O60934
PR
Gene name |
NBN (NBS, NBS1, P95) |
Protein name |
Nibrin |
Names |
Cell cycle regulatory protein p95, Nijmegen breakage syndrome protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4683 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for O60934
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5WQD | X-ray | 300 A | H/I/J/K/L/M/N | 423-438 | PDB |
| 7SID | EM | 253 A | B/D | 727-754 | PDB |
| 8BAH | EM | 413 A | C | 1-754 | PDB |
| AF-O60934-F1 | Predicted | AlphaFoldDB |
1465 variants for O60934
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1554569682 RCV001178337 RCV000525671 |
1 | M>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746422391 RCV001184071 RCV000695139 RCV000484157 |
1 | M>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876661130 RCV000220864 RCV001854740 CA10577371 |
2 | W>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002537743 rs1812244679 RCV001270990 |
2 | W>* | Microcephaly, normal intelligence and immunodeficiency Breast and/or ovarian cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000707330 CA4803108 rs779098734 RCV000581960 |
3 | K>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000480086 RCV000575658 rs1064793210 RCV000529669 |
4 | L>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001840577 rs748090667 RCV000463112 CA16612508 RCV000569693 |
4 | L>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs748090667 CA181286161 RCV000565981 RCV000764792 RCV000546827 |
4 | L>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003163634 RCV001214168 rs1426394881 |
4 | L>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371664190 rs1586116142 RCV000793304 |
5 | L>Q | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371664193 rs1563588747 RCV001337830 RCV000776598 |
5 | L>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4803106 rs730881859 RCV002402609 RCV001208049 |
6 | P>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000222282 CA10578821 rs876658432 RCV001233526 |
6 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730881859 RCV000212724 RCV000197183 COSM1102345 CA299642 RCV000160798 |
6 | P>S | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs730881859 RCV001052228 |
6 | P>T | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014001 rs587780779 RCV000123211 CA332820 |
7 | A>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA181286152 rs781057669 RCV002418811 RCV001236445 |
7 | A>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000457469 CA16612557 RCV001805079 rs1060503459 |
8 | A>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000458518 rs1060503485 |
9 | G>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554569664 RCV000535302 CA371664155 |
9 | G>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000775397 rs758228844 CA4803102 RCV000795693 |
10 | P>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000160799 RCV001208076 rs730881860 CA299645 |
12 | G>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000166444 rs730881860 RCV001220952 CA195890 |
12 | G>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371664132 RCV000228075 RCV000772147 rs878854511 RCV000775704 CA10582607 RCV000762529 |
12 | G>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA4803099 rs757112911 RCV001184070 RCV000526745 |
13 | G>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000216199 RCV001540678 RCV001800579 rs745439506 CA4803065 |
14 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA371663709 rs1586112154 RCV001022588 |
15 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371663723 RCV000771577 rs1563584802 |
15 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001289551 rs1812139426 |
16 | Y>missing | Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371663697 RCV001800935 RCV001023075 TCGA novel rs864622726 |
16 | Y>C | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV000204001 CA348276 rs864622726 |
16 | Y>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659305 RCV001204788 |
18 | L>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781939 RCV001582603 RCV000232902 CA166136 RCV000130303 |
18 | L>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001220381 RCV000213118 RCV001546090 rs876659305 |
19 | L>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1586112097 RCV002350515 RCV001295567 |
19 | L>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562197 RCV001853722 rs749263651 CA4803063 |
19 | L>W | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001524977 RCV000685243 CA371663612 rs1563584711 |
20 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000815061 RCV000657335 rs758708229 RCV001024899 |
21 | G>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1586112049 CA371663608 RCV001025001 |
21 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000540870 rs369910645 CA371663582 |
22 | V>F | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4803061 RCV000227804 rs369910645 RCV000572001 |
22 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1812137322 RCV001190382 |
24 | Y>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1812137176 RCV001350461 |
24 | Y>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781748 CA371663475 RCV000693538 RCV001026395 |
25 | V>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587781748 RCV000656923 RCV000212726 RCV000129954 CA294139 RCV000232974 |
25 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1199711768 RCV001207042 RCV000573403 |
26 | V>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002408973 RCV000820194 CA4803059 rs781536675 |
26 | V>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002487734 rs752964949 RCV002397652 RCV000807597 CA371663454 |
26 | V>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001039445 rs755171159 |
27 | G>E | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000228051 rs755171159 RCV000568019 CA4803058 RCV001582771 |
27 | G>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000574627 rs1554569106 RCV000794401 |
28 | R>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1563584545 CA371663424 RCV000773728 RCV001315586 |
28 | R>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694610 CA10578816 rs876658581 RCV000218413 |
28 | R>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1554569112 RCV000556426 CA371663405 RCV001178803 |
29 | K>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1812135206 RCV001190397 |
30 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000988091 RCV000129902 RCV000411130 rs587781718 |
30 | N>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781450 RCV000129374 CA164297 |
30 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001363922 CA10578815 RCV000218564 rs876658553 |
31 | C>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1377520302 RCV000798750 CA371663332 |
31 | C>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1377520302 CA371663334 RCV000692664 |
31 | C>Y | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000221111 RCV001569090 RCV001824684 rs864622253 RCV000206712 |
32 | A>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003160205 rs1172365532 RCV001035513 CA371663283 |
33 | I>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001188198 RCV000709064 rs1563584435 CA371663305 |
33 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586111855 RCV001016978 CA371663278 |
34 | L>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000549829 rs1012390181 CA181281117 RCV002367816 RCV002298649 |
34 | L>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs730881840 RCV000160767 RCV001180837 RCV000664795 |
35 | I>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000216738 CA4803056 RCV001570359 rs78870221 RCV000533679 |
35 | I>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1554569095 RCV000579707 CA658683519 |
35 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000484131 RCV000221417 CA332807 RCV001264517 RCV000123202 rs587780773 |
35 | I>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000217641 rs876658411 CA10578814 RCV000469351 |
37 | N>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578813 RCV000219457 rs876659565 RCV001372465 |
38 | D>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000775395 rs864622511 RCV000204010 |
39 | Q>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377730553 RCV001862938 RCV001186594 |
39 | Q>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377730553 RCV000820955 CA164970 RCV000129719 |
39 | Q>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs377730553 CA181281098 RCV000636775 RCV001010019 |
39 | Q>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001059176 rs765551184 RCV002327330 |
39 | Q>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000232275 rs587781530 RCV000586924 RCV000764791 RCV000129524 CA164600 |
40 | S>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001856077 RCV000774018 CA371663107 rs1563584220 |
41 | I>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575311 CA371663098 rs1554569074 |
41 | I>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001231264 rs1554569074 |
41 | I>T | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057800 RCV001182851 rs1563584220 |
41 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000466522 RCV000130227 RCV000482320 rs587781891 |
42 | S>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200287925 RCV000131193 RCV003162586 RCV000489509 CA167743 RCV000409406 |
43 | R>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs759146120 RCV001235839 |
43 | R>L | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4803053 RCV000567458 COSM1102344 rs759146120 RCV001304163 |
43 | R>Q | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA371663033 RCV000777185 rs773865323 RCV000527832 |
45 | H>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000540420 rs1554569059 CA371663027 |
45 | H>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000213612 rs876658446 CA10578811 |
47 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371663010 RCV001354454 RCV000564780 rs876658446 |
47 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000775394 RCV000657304 rs750375741 RCV000685564 |
48 | L>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554569035 CA371662979 RCV000636752 RCV001011910 |
50 | A>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000222963 rs876661214 CA10577370 RCV001854751 CA371662962 |
51 | N>K | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV000584632 rs767454740 RCV002502428 RCV000410370 RCV000502852 RCV002252110 RCV000484600 RCV000587195 |
53 | S>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Acute lymphoid leukemia Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660243 CA10578809 RCV000220179 |
53 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769700749 RCV001306333 |
54 | V>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1211487080 RCV001030568 CA371662916 |
54 | V>I | Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001036960 rs1812127566 |
55 | T>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636725 RCV002248838 rs1554569009 RCV000773220 CA371662880 |
56 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4803045 rs747920256 RCV000583436 RCV000636739 |
57 | L>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1554568431 RCV000568176 CA371662646 |
58 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586109204 RCV001012939 CA371662645 |
58 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1381256979 RCV000580454 CA371662641 |
58 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003133388 RCV001013002 RCV000688264 CA371662638 rs1554568427 RCV000586448 |
59 | Q>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057516392 RCV000412330 |
60 | T>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000672694 rs768378152 RCV000166151 |
60 | T>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002249631 RCV001013218 rs1586109164 CA371662629 |
60 | T>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554568419 RCV000561968 |
60 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782147 RCV000130711 RCV002514735 |
61 | D>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1460282206 RCV000772939 RCV001056239 CA371662623 |
61 | D>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA371662612 rs1586109110 RCV000821079 |
62 | E>D | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1812067152 RCV001191222 |
62 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001270988 RCV000657396 rs876659592 RCV000221586 RCV000636697 |
63 | I>missing | Microcephaly, normal intelligence and immunodeficiency Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA181280638 RCV000698049 rs961554359 RCV000772344 |
63 | I>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001217448 RCV000772229 CA371662600 rs1563581492 |
64 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371662601 RCV000688507 RCV001805805 rs1563581492 |
64 | P>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000670697 rs267602038 RCV001013653 CA4803023 |
64 | P>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs267602038 CA371662604 RCV000581948 |
64 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002422565 CA371662597 RCV000700707 rs1563581457 |
65 | V>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778998026 CA4803022 RCV000565097 RCV001039847 |
65 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001322027 rs778998026 RCV000564755 CA371662599 |
65 | V>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
RCV000574071 rs1554568371 CA371662593 |
66 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001047145 rs1812065476 |
66 | L>W | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000220748 RCV000636750 rs876660922 CA10578807 |
67 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000813374 CA181280618 RCV002422804 rs1015793589 |
67 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000164274 rs786201800 RCV001850292 CA190510 |
68 | L>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000544879 RCV001180793 CA371662582 rs1200599843 |
68 | L>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000165335 rs786202494 RCV000457752 RCV000679458 |
70 | D>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001800772 rs1554568357 RCV000575857 CA371662564 |
70 | D>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586108952 CA371662567 RCV000802204 |
70 | D>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002256540 rs560337591 RCV000815138 CA4803018 |
70 | D>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000478442 rs1064795634 RCV000688577 |
71 | N>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000200419 RCV002503780 rs762664474 RCV001014466 |
71 | N>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503484 RCV000572489 CA16612677 RCV000462437 |
72 | S>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000674860 rs1554568352 |
72 | S>WNRSGQP | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000668995 rs1554568348 |
73 | K>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1563581193 CA371662537 RCV000696443 |
74 | Y>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16612555 rs1060503471 RCV000457973 |
74 | Y>C | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA287925 RCV000229027 RCV001193075 RCV000219762 RCV002477281 RCV000115790 rs587780094 |
74 | Y>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000197450 rs587782179 RCV000213490 RCV001193077 CA167130 RCV000130798 |
75 | G>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000546587 rs1554568340 |
76 | T>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371662530 RCV001014993 rs1586108851 |
76 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781412 RCV000478706 RCV000573181 RCV000636706 CA16618714 |
76 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587781412 RCV000200027 CA294017 RCV000212727 RCV000129274 |
76 | T>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000568222 RCV001800786 CA371662521 RCV001755948 rs1554568336 |
77 | F>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000799598 rs1586108827 |
78 | V>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812346 rs786202749 RCV000165721 CA194070 RCV003153447 |
79 | N>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16618713 rs786202749 RCV000478498 RCV000636765 RCV001015283 |
79 | N>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371662498 RCV000794512 rs1064795037 |
81 | E>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000164724 RCV001850303 CA191642 rs786202085 |
81 | E>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064795037 CA371662499 RCV000774907 RCV001045961 |
81 | E>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs193921030 RCV000149134 COSM1178997 CA174421 RCV000667547 |
82 | K>E | Malignant tumor of prostate Microcephaly, normal intelligence and immunodeficiency prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1438838735 RCV000806996 CA371662482 RCV001770504 RCV000566420 |
83 | M>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000574610 RCV001065058 CA181280587 rs940160589 |
83 | M>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636702 RCV000570692 CA181280588 rs955258267 |
83 | M>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA371662485 RCV001284194 rs955258267 RCV001064087 RCV000561949 |
83 | M>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000804317 rs1586108714 RCV003166237 CA371662477 |
84 | Q>* | Microcephaly, normal intelligence and immunodeficiency Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001175414 RCV001239604 RCV002436731 rs1586108714 |
84 | Q>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4803015 RCV000580048 RCV001800798 rs762702597 |
84 | Q>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA287928 RCV000214236 RCV001800403 rs587780095 RCV000115791 RCV000231493 |
85 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001280994 CA197121 rs786203573 RCV000475158 RCV000166951 |
87 | F>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001862951 RCV001187415 rs1812059810 |
88 | S>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516320 RCV000410234 RCV001782863 RCV001176293 RCV002504201 CA16041212 RCV003168586 |
89 | R>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1057516320 RCV001178737 |
89 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001354099 rs747315554 RCV000473711 RCV000164059 CA189935 RCV000483231 |
89 | R>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747315554 RCV000215544 RCV000204158 CA348406 RCV002466468 COSM1314257 |
89 | R>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome urinary_tract [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001057028 RCV001016416 rs1586108633 |
90 | T>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574025 rs1554568315 CA371662444 |
90 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1812059152 RCV001327075 |
90 | T>I | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773610 rs1563580865 |
91 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000566890 CA371662427 rs1554568311 RCV001853783 |
92 | K>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586108601 CA371662421 RCV001016586 |
93 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000193311 VAR_025792 CA206703 RCV001354986 RCV000131226 RCV000586867 RCV000168344 rs12721593 |
93 | S>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA371662413 rs1586108566 RCV001016684 |
94 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563580785 CA371662418 RCV001035742 RCV000780523 |
94 | G>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA166516 RCV000459979 rs545276922 RCV000130482 RCV000486308 RCV001193649 |
95 | D>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002440502 RCV002509518 RCV000699951 CA371662412 rs61753720 |
95 | D>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000121616 VAR_025793 CA160975 RCV000123216 rs61753720 RCV000588621 RCV000115792 |
95 | D>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61753720 RCV000575515 CA371662411 |
95 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000161942 RCV002478492 rs730882133 CA333815 RCV000574837 |
96 | G>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1812056882 RCV001346958 |
97 | I>M | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000560465 rs1554568295 CA371662385 |
97 | I>T | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002433715 RCV000160793 rs730881855 RCV000636730 CA299627 |
97 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16612676 rs1060503453 RCV000475140 RCV002436459 |
98 | T>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000796681 CA371662351 rs1187898389 RCV000574101 |
99 | F>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000467071 RCV000164413 RCV000679462 CA190887 rs185493105 |
101 | V>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs185493105 CA371662326 RCV000536492 |
101 | V>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000164802 RCV001770126 rs786202139 CA191801 RCV000636741 |
101 | V>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000129019 RCV000668848 RCV000478932 rs587781305 |
102 | F>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001800787 rs1554568285 RCV001193650 RCV000569484 CA371662321 |
102 | F>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371662299 RCV000636762 RCV000985876 rs1554568272 |
103 | G>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000803693 rs876658400 CA10578805 RCV000220892 |
104 | S>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002505995 RCV001177303 rs745355767 RCV000409799 |
107 | R>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019241 rs1345924774 RCV001228207 CA371662246 |
107 | R>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4802997 RCV000818428 RCV000567115 RCV000478600 rs775217949 |
108 | I>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA371662166 RCV002322033 RCV001213378 rs1286492027 |
108 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1554568029 RCV000574950 |
110 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057519585 RCV003138000 RCV000417080 CA16044376 |
110 | Y>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001019774 rs1355269482 RCV000696752 CA371662147 |
110 | Y>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000220573 rs876659320 CA10578804 RCV001219804 RCV001770177 |
111 | E>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000557130 rs876659320 CA16618710 RCV000481220 RCV002323817 |
111 | E>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs759723870 CA371662134 RCV001233028 RCV001020084 |
112 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002323751 rs759723870 CA4802996 RCV000470002 RCV000478392 |
112 | P>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000767209 RCV000764790 RCV000206877 RCV000220601 RCV000486552 rs771034958 CA350859 |
114 | V>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771034958 RCV000462040 CA4802994 RCV000217636 |
114 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001341247 RCV000222524 rs876658434 CA10578803 |
115 | A>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002453878 rs876658434 RCV000819413 CA371662122 |
115 | A>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000800926 CA371662116 rs1586107344 |
116 | C>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001183671 RCV002560846 rs1060503468 |
117 | S>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001190863 RCV000471065 rs1060503468 CA16612506 |
117 | S>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371662108 rs1563579445 RCV000697167 RCV002458261 |
117 | S>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001036608 rs1060503468 |
117 | S>Y | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002484998 RCV000198706 RCV001355557 RCV000656924 RCV000575427 rs730881841 |
118 | S>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574113 RCV001372748 rs749272832 CA371662094 |
119 | C>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000636734 RCV001020638 CA371662095 rs749272832 |
119 | C>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001020635 rs749272832 CA4802993 RCV001321192 |
119 | C>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001206069 rs1563579387 |
120 | L>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1563579387 CA371662088 RCV000705028 RCV002458309 |
120 | L>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA181280399 RCV002456093 rs987369991 RCV000537971 |
121 | D>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001276021 rs770163751 CA4802991 RCV000480445 |
121 | D>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000213516 CA4802992 rs777916019 RCV000764789 RCV000817138 |
121 | D>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA371662084 RCV000569308 rs777916019 |
121 | D>Y | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001190618 rs1216167429 |
122 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000167055 CA197382 rs786203652 |
122 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203615 RCV001041662 CA197249 RCV000167005 |
123 | S>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781671474 RCV000229933 CA4802989 |
124 | G>E | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1064794806 RCV001020944 RCV000550486 CA16618709 RCV000480135 |
124 | G>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA371662024 RCV001021009 RCV000706412 rs1563579253 |
125 | K>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636723 rs1554567972 |
126 | T>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1484120047 CA371662009 RCV001191218 RCV001592998 RCV000804370 |
126 | T>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002358487 RCV000539193 CA371662000 rs1554567966 |
127 | A>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021178 CA371662004 rs876658453 |
127 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578802 rs876658453 RCV000215641 |
127 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000467395 rs1060503463 RCV002365663 CA16612505 |
128 | L>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306498 RCV002357110 rs1060503477 |
129 | N>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16612380 rs1060503477 RCV000456497 |
129 | N>H | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586107038 RCV000816700 CA371661968 RCV001021363 |
130 | Q>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001177957 rs1812028294 |
130 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699244 CA371661936 rs1469136096 RCV001189744 |
131 | A>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1469136096 RCV001069681 |
131 | A>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021549 RCV000460586 RCV001800688 CA16612674 rs1060503462 |
132 | I>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563579078 RCV000771724 CA371661930 |
132 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000223570 RCV000636732 CA4802987 rs756946899 |
132 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA371661897 RCV001365062 rs1586106962 RCV001021672 |
134 | Q>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021730 RCV000698957 rs1409617560 CA371661884 |
135 | L>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1812025943 RCV001350373 |
136 | G>E | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371661869 RCV000555403 rs1554567936 RCV000581461 RCV001193651 |
136 | G>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs747462107 RCV001177302 RCV001875843 |
137 | G>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1563578967 CA371661827 RCV000774338 |
138 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001706081 RCV002225484 RCV000165497 CA193554 RCV000168457 rs543852763 |
139 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA371661803 RCV000566133 rs543852763 |
139 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000794767 rs1586106848 CA371661748 |
142 | N>D | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000589414 RCV000515292 RCV000168260 rs769414 VAR_051226 CA160978 RCV000121617 RCV001355243 RCV000115794 COSM1258763 |
142 | N>S | Microcephaly, normal intelligence and immunodeficiency oesophagus Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001061415 rs1812023981 |
143 | W>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4802982 rs770995856 RCV001298630 RCV002327640 |
143 | W>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001343667 rs1812023859 |
144 | T>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570614 RCV001339323 CA371661706 rs1554567906 RCV000764788 |
144 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371661707 RCV000818512 rs1554567906 RCV000777594 |
144 | T>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000665020 rs1554567902 |
145 | E>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220913 rs1812023357 RCV002327522 |
146 | E>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222707 rs1812023357 |
146 | E>K | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16612552 RCV002248692 rs1060503479 RCV000775713 RCV000457136 |
148 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554567892 RCV000985878 RCV000636715 RCV000568920 |
149 | H>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306778 rs868089138 CA181280344 RCV002327673 |
149 | H>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA371661646 RCV001862672 rs1161054161 RCV002327376 RCV001090212 |
149 | H>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003156319 VAR_025795 RCV001177301 CA4802981 rs773119929 |
150 | L>F | Hereditary cancer-predisposing syndrome BC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs773119929 RCV001184402 |
150 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000777298 rs1563578727 RCV002535601 |
151 | V>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781549 RCV000129563 CA164672 RCV001225616 |
151 | V>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs201816949 RCV000515395 RCV000197783 RCV001356300 RCV000509203 CA287934 RCV000115795 RCV000781635 |
152 | M>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000701299 rs1554567872 CA371661606 RCV000566919 |
152 | M>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371661576 RCV001022749 RCV000598503 rs1554567865 RCV001800818 |
153 | V>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586106651 RCV001022797 CA371661552 |
154 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730881858 RCV000222254 CA299636 RCV000456204 RCV000160796 RCV000781643 |
156 | K>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA371661531 rs1586106635 RCV001022872 |
156 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563578596 RCV002334343 RCV000699739 |
157 | V>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503486 RCV002257725 RCV000472954 CA16612551 |
157 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1271849120 CA371661488 RCV000570831 |
158 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002334278 RCV000689922 rs1563578540 |
159 | I>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4802980 rs747319065 RCV001177300 |
159 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA371660719 RCV000558349 rs1554566766 |
162 | I>K | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371660724 RCV000819497 rs750594114 |
162 | I>L | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000569087 RCV001800792 CA371660713 rs1554566760 |
162 | I>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001361956 RCV000571569 CA4802953 rs750594114 |
162 | I>V | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs786201252 RCV001326092 RCV000163172 CA187645 |
164 | A>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs786201252 RCV001238775 |
164 | A>T | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1586101609 RCV001023278 |
165 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371660684 rs776810966 RCV000529846 RCV000571587 RCV001764556 |
165 | L>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16612670 rs1060503458 RCV000472142 |
165 | L>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758830069 RCV000636716 |
166 | I>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1586101561 RCV000796626 |
167 | C>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001023386 RCV001873370 CA371660663 rs1586101551 |
167 | C>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503464 CA16612667 RCV000461101 |
167 | C>Y | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000559552 RCV001023458 CA371660643 RCV001192404 RCV000764787 rs1554566728 |
168 | G>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000587269 CA287937 RCV001030567 RCV000764786 RCV000123218 RCV000115796 rs182756889 RCV001549273 |
169 | R>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000166315 RCV000460960 CA195555 RCV000214523 RCV000780528 rs776134250 |
169 | R>H | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1554566720 RCV000535863 CA371660403 |
170 | P>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782411 RCV000457816 CA168174 RCV000131450 |
170 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000576061 CA181279296 RCV000636728 rs61754966 |
171 | I>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000115797 RCV000007360 RCV000121618 RCV000589577 RCV001358233 RCV000490266 RCV000007361 RCV001030566 VAR_025796 rs61754966 RCV000197512 RCV001262350 CA160981 |
171 | I>V | Carcinoma of colon Breast carcinoma Microcephaly, normal intelligence and immunodeficiency Leukemia, acute lymphoblastic, susceptibility to Hereditary cancer-predisposing syndrome Aplastic anemia Acute lymphoid leukemia Hereditary breast ovarian cancer syndrome some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant; associated with aplastic anemia at homozygosity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001800771 CA371660375 RCV000574936 RCV002476214 rs1554566701 |
172 | V>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000811270 CA371660381 rs1586101456 RCV001023619 |
172 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000776941 rs1563574056 RCV000709063 CA371660369 RCV000781641 |
173 | K>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023731 CA160984 RCV000690603 rs587778546 RCV000121619 |
174 | P>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000687653 CA371660345 rs730881861 RCV000771741 |
175 | E>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001190278 RCV001318570 rs1811866878 |
176 | Y>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516787 RCV000409476 |
177 | F>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000482441 rs1064796090 RCV001302493 CA16618707 |
177 | F>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574501 rs1554566678 RCV001239591 |
179 | E>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001024003 RCV000548351 CA371660267 rs1554566673 |
179 | E>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1293382034 CA371660279 RCV001313559 RCV001023973 |
179 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000206504 rs864622578 CA350524 RCV001799634 RCV000575816 |
179 | E>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16612375 rs1060503457 RCV000462336 |
180 | F>C | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636727 CA371660252 rs1060504930 |
181 | L>M | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000774135 CA371660248 rs1563573858 |
181 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs151070415 CA4802945 RCV000570581 RCV000586067 RCV000475501 |
183 | A>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001218013 rs1811865315 |
184 | V>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001024208 rs1554566641 CA371660215 RCV000636731 |
184 | V>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002350224 RCV000558763 rs1554566641 CA371660218 |
184 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000121620 CA160987 RCV000162358 VAR_025797 RCV001705896 rs1805794 RCV000374656 RCV002225385 |
185 | E>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1586101246 RCV001862284 CA371660192 RCV001024291 |
186 | S>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554566633 CA371660176 RCV001024306 |
187 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554566633 RCV000547583 CA371660179 |
187 | K>Q | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002349979 CA16612370 rs1060503476 RCV000471532 |
188 | K>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1811864250 RCV001234160 |
189 | Q>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001024355 rs1586101226 |
189 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1198614767 CA371660147 RCV000581698 RCV001853931 |
189 | Q>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1198614767 CA371660149 RCV001024379 RCV001343630 |
189 | Q>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001024219 rs1586101198 |
190 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371660133 RCV001860093 RCV000583171 rs1554566620 |
190 | P>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577369 RCV000475053 RCV001024457 rs876661071 RCV000223056 |
191 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000584671 rs1554566613 CA371660109 |
192 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586101162 CA371660090 RCV000985879 RCV001275522 RCV001024532 |
193 | I>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636704 CA371660085 rs1554566610 RCV002358788 |
194 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001310162 rs1811862674 RCV001368080 |
195 | S>N | Microcephaly, normal intelligence and immunodeficiency Breast-ovarian cancer, familial, susceptibility to, 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322493 RCV003166874 rs1811508521 |
196 | F>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1586088924 RCV001024655 RCV001391000 |
197 | Y>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000666402 rs1554564309 CA658823271 |
197 | Y>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371659331 RCV000690999 rs1563562194 RCV001191345 |
197 | Y>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067335 RCV002355090 rs1563562194 |
197 | Y>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001328957 RCV000572469 rs1554564297 RCV000700009 RCV001779012 RCV002526831 |
198 | P>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Inborn genetic diseases Acute lymphoid leukemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000528152 CA181276835 RCV000759888 RCV000565625 rs951997505 |
198 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001206381 rs951997505 |
198 | P>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562640 RCV000636772 rs1554564306 CA371659324 |
198 | P>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580320 CA371659318 rs730881844 |
199 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA299593 RCV002229765 RCV000205060 RCV000160780 RCV000726896 rs730881844 |
199 | P>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000115798 RCV000235189 rs587780097 RCV000461206 RCV000515203 CA287940 |
199 | P>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755050499 RCV001047446 RCV000771591 |
201 | D>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001568159 RCV000562999 RCV000636721 rs587780098 CA4802922 |
201 | D>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002356873 RCV001202437 rs757186245 |
201 | D>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757186245 CA4802923 RCV001773674 RCV001338503 |
201 | D>N | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000693128 RCV000115799 CA287943 rs587780098 RCV000561072 |
201 | D>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001067860 rs1811506628 |
202 | E>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002357020 RCV001238965 rs1811506628 |
202 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000568663 rs1554564291 RCV001247962 CA371659298 |
203 | P>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000219068 rs876659478 RCV000687695 CA10578799 |
204 | S>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001217810 CA195851 rs786203215 RCV000166430 |
205 | I>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000212732 RCV000470960 CA299596 rs730881845 RCV000160781 |
205 | I>V | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587780099 RCV000219658 RCV000792329 RCV000115800 CA287946 |
207 | S>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587780099 RCV001189547 |
207 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000168062 RCV000515300 RCV001358247 VAR_025798 rs61754796 RCV000115801 RCV000121622 RCV000114880 CA160993 |
210 | V>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001876175 rs61754796 RCV001185815 |
210 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002551916 CA371659210 RCV001025091 rs61754796 |
210 | V>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000128984 RCV000199629 RCV000486252 CA163608 rs377700348 |
211 | D>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001025136 rs752104183 RCV001862313 CA371659194 |
211 | D>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002366118 rs1563561889 RCV001296163 |
212 | L>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554564269 RCV001034793 RCV000562538 RCV002222555 CA371659161 |
214 | G>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1811503368 RCV001177473 |
214 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001025265 CA181276776 rs34767364 |
215 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000461583 RCV000587953 rs61753718 RCV001818316 RCV000130586 CA166707 |
215 | R>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000487932 VAR_025799 rs34767364 RCV000115802 RCV000121621 CA160990 RCV000007363 |
215 | R>W | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001025298 rs769416 VAR_025800 CA181276755 RCV000688542 |
216 | Q>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA4802915 RCV000482311 rs760275251 RCV002356787 RCV001324222 |
217 | E>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs786202250 RCV000693014 COSM1102343 CA192192 RCV000164968 |
218 | R>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000415248 RCV000212733 RCV000133576 RCV000007353 RCV000007354 RCV001357671 RCV001391203 RCV001574072 RCV002280859 RCV001270991 RCV001535498 rs587776650 |
219 | K>missing | Breast carcinoma Carcinoma of pancreas Microcephaly, normal intelligence and immunodeficiency Lissencephaly Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Familial cancer of breast Hepatocellular carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001045190 rs730881846 CA299599 RCV000160782 RCV002362851 |
219 | K>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4802914 rs376951288 RCV001192339 RCV000636770 |
219 | K>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs876659811 CA10578797 RCV000477515 COSM1739469 RCV000221411 RCV001575753 |
220 | Q>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs1563561699 RCV000701215 |
220 | Q>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1187082186 CA371659059 RCV001208269 RCV000579431 |
221 | I>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002477323 RCV000129030 RCV000212734 RCV000123219 rs541992192 CA293935 |
222 | F>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001226080 rs1811500671 |
223 | K>Q | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000561794 CA371659032 RCV001858318 rs530438634 |
223 | K>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001778750 RCV000196737 CA165270 rs199845467 RCV000129875 RCV000222691 |
224 | G>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA371659023 RCV000773313 rs1563561588 |
224 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586088503 RCV001025586 |
226 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1563561558 RCV000704393 RCV001025628 |
226 | T>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371658993 rs1554564219 RCV000579800 RCV001307945 |
226 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057519586 RCV000417079 |
227 | F>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000548804 RCV000478980 CA4802912 rs749025721 |
227 | F>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000484512 RCV000798099 rs1064793416 CA16618705 |
228 | I>M | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000165931 rs777460725 RCV000764785 RCV000855653 RCV000198580 RCV000587016 CA194560 |
228 | I>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1204337347 RCV000583818 RCV001226963 CA371658968 |
228 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs876660152 RCV000216007 CA10578795 RCV001223538 |
229 | F>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1309274168 RCV000999052 RCV000809097 CA371658940 RCV000773378 |
231 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1309274168 RCV000807525 CA371658939 |
231 | N>T | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002365192 rs878854515 RCV000231298 CA10582603 |
232 | A>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000212735 RCV000115804 RCV000193543 RCV001354502 RCV002498497 rs587780100 |
233 | K>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371658918 rs1586088352 RCV000798336 |
234 | Q>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554564044 RCV001241645 RCV000561396 CA371658903 |
235 | H>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001025982 rs1586087184 COSM1624268 CA371658899 RCV002551946 |
235 | H>Q | Microcephaly, normal intelligence and immunodeficiency liver Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs769519885 RCV000580946 CA4802894 RCV001222101 |
235 | H>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA371658904 RCV000565872 RCV001339647 rs1554564044 |
235 | H>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001575608 RCV000569502 rs1060503482 CA16612547 RCV000468446 |
236 | K>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1811466776 RCV001325281 RCV002366200 |
236 | K>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213262 rs1811466882 |
236 | K>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306319 rs1811466265 |
238 | L>F | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244645 rs587781868 |
239 | S>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636708 rs587781868 RCV000480469 RCV000130185 CA165897 |
239 | S>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002375350 rs1554564033 RCV001298778 |
240 | S>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572928 CA371658864 rs1554564033 |
240 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781333 RCV001066743 |
241 | A>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781333 CA163785 RCV000467707 RCV000480756 RCV000129086 |
241 | A>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA371658857 rs1434146100 RCV001207637 RCV001026199 |
242 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs786203253 RCV000166481 CA195992 |
243 | V>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000571357 RCV002506321 CA371658850 RCV000530856 rs786203253 |
243 | V>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
TCGA novel RCV000810698 rs1586087079 CA371658842 |
244 | F>S | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
rs1811464751 RCV001269127 |
246 | G>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001056854 CA371658825 rs1554564023 RCV000566197 |
246 | G>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16618703 RCV003168940 RCV000483310 rs1064793212 |
246 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000657237 RCV000007364 rs864309670 RCV001525344 |
248 | E>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000483869 RCV000701954 rs758852942 RCV000775389 CA4802890 |
250 | R>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA169496 RCV001339147 rs587782746 RCV000132252 |
252 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4802889 RCV002388044 rs765602971 RCV000636757 |
253 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000115805 rs61754967 RCV000656925 CA160999 RCV000121624 RCV000168183 |
253 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000555956 rs1554563994 RCV000580984 CA371658719 |
256 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878854516 CA10582602 RCV000227599 |
257 | E>K | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000166661 CA196412 rs786203380 RCV000481585 RCV000636759 |
258 | E>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000475482 RCV000568106 rs922057169 CA16612546 RCV001174792 |
258 | E>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000764784 CA299602 RCV000781645 RCV000160783 rs201559159 RCV000204371 RCV000212736 |
259 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA4802887 rs767013459 RCV001319510 |
260 | H>N | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000772586 rs1328090653 RCV001055654 CA371658679 |
260 | H>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1811461476 RCV002509604 RCV001061819 RCV002411577 |
261 | N>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000216808 rs375336614 RCV000532301 CA4802886 RCV000565009 |
261 | N>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001264536 RCV000165014 CA192297 RCV001302594 CA371658650 RCV000775829 RCV000473725 rs372159380 RCV000214639 |
262 | F>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.622e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD NCI-TCGA |
|
rs1554563966 RCV000571687 CA371658648 RCV000688165 |
263 | F>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA287950 rs147626427 RCV000115806 RCV000656926 RCV000212737 RCV000199794 |
263 | F>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10578792 RCV000218092 rs876658382 |
265 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001064128 rs876658382 RCV000564477 CA371658624 |
265 | A>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000204340 rs61612852 CA348590 |
265 | A>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs762956906 CA4802885 RCV000581122 RCV001800799 |
266 | P>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA161002 RCV002225386 RCV000129165 rs769420 RCV002498573 VAR_025801 RCV000121625 RCV001082237 RCV000425619 |
266 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000777036 RCV000805768 rs762956906 CA371658615 |
266 | P>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4802883 RCV001066171 RCV001027059 rs747837246 |
267 | G>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1554563955 RCV000776982 RCV000657440 RCV001800841 |
268 | T>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA299651 COSM1102342 RCV000160801 RCV000212738 RCV002484999 rs535602436 RCV000465872 RCV000999051 |
268 | T>M | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000809056 CA371658583 rs768822147 |
269 | C>F | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4802881 rs768822147 RCV000709062 |
269 | C>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10582601 RCV001027137 rs768822147 RCV000234276 |
269 | C>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000480505 RCV000165330 rs786202490 RCV000205978 |
270 | V>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1811458659 RCV001219534 |
270 | V>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001070998 rs1811458935 |
270 | V>I | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1811458181 RCV001306375 RCV002418928 |
271 | V>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220365 RCV000567422 CA371658567 rs876659388 |
271 | V>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1811458181 RCV001322580 |
271 | V>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000213119 CA10578791 RCV000704308 rs876659388 |
271 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA299605 RCV001027233 rs730881847 RCV000160784 RCV001045936 |
272 | D>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554563922 RCV000573107 CA371658558 COSM1330878 |
272 | D>N | ovary Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000160766 rs730881839 RCV001226188 RCV000258971 |
273 | T>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554563912 RCV000636779 CA371658541 RCV001525443 |
273 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001231194 rs1554563912 |
273 | T>K | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs540837864 RCV000165067 CA192429 RCV001324635 |
274 | G>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001027360 rs1586086621 |
276 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371658518 RCV002528147 RCV000574259 rs1554563895 |
276 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000759889 CA349372 RCV000205187 rs864622304 RCV000219109 |
276 | T>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000574393 rs1554563895 RCV000813090 CA371658517 |
276 | T>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000777331 RCV001058594 CA371658510 rs1563559349 |
277 | N>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578790 rs876658579 RCV000221665 |
277 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000772494 RCV001355653 CA371658496 RCV000589829 rs1225178489 RCV000701071 |
278 | S>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001189581 rs1811455813 |
278 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371658498 RCV002536652 rs1225178489 RCV000773456 |
278 | S>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs864309668 RCV000007356 |
279 | Q>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554563878 RCV000533541 |
279 | Q>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1586086585 CA371658491 RCV000812872 RCV002257980 |
279 | Q>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000206209 rs864622116 CA350268 RCV000999050 RCV001017610 |
279 | Q>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001036872 RCV002434431 RCV001772214 rs864622116 |
279 | Q>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000007357 rs864309669 |
281 | L>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA334800 rs786205135 RCV000170447 RCV000772328 |
281 | L>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1554563861 RCV000776980 RCV000572150 |
282 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786202604 CA193540 RCV000165493 |
282 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002257884 CA371658429 RCV000636760 rs1554563853 |
283 | P>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1811453358 RCV002447134 RCV001226182 |
283 | P>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002442616 COSM1102341 rs772176894 RCV000792912 CA4802880 |
284 | D>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1563559186 RCV000698817 CA371658388 |
285 | C>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000196198 rs863224715 CA336228 RCV001017981 |
285 | C>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001018031 rs1586086458 CA371658368 |
286 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003168857 rs1060503475 CA16612369 RCV000475235 |
289 | W>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371658329 RCV002369842 RCV000687801 rs1563559145 |
289 | W>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660117 CA10578788 RCV000223412 RCV001205387 |
289 | W>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371658327 RCV000698816 rs1563559145 |
289 | W>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554563822 RCV000656225 CA371658288 RCV001387363 |
291 | Q>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001018239 CA371658284 rs587778547 |
291 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA160996 RCV000583974 RCV000666592 RCV000121623 rs587778547 |
291 | Q>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563559078 RCV001189634 RCV001565743 RCV000698778 |
292 | S>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1811450828 RCV001068095 |
292 | S>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001208143 rs1811450946 RCV002375149 |
292 | S>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660700 RCV000219392 CA10578787 RCV000537309 |
292 | S>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001186859 RCV001224280 rs1811450612 |
293 | I>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1283506577 RCV001055556 CA371658260 RCV001018310 |
293 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001018369 rs1586086338 |
294 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236570 rs1811450172 RCV002447181 |
294 | M>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746381477 CA196894 RCV000478151 RCV000166860 RCV000545234 |
294 | M>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002446933 rs779346343 RCV001036229 RCV000478839 CA4802879 |
294 | M>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000808308 CA371658220 RCV000776271 rs1208423434 |
295 | D>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000636707 rs1208423434 CA371658217 RCV002377380 |
295 | D>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1811152792 RCV001068601 |
300 | Q>H | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018596 CA4802851 RCV001238397 rs758070132 |
300 | Q>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1057519587 RCV000417085 RCV002374624 |
301 | G>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000579648 CA4802850 rs749857140 RCV001367833 |
301 | G>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1280333137 RCV002377381 CA371657160 RCV000636753 |
301 | G>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1563549036 RCV000690767 |
304 | P>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4802848 RCV000231105 rs536965870 RCV000583221 |
304 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA10578785 RCV000217672 RCV000706657 rs536965870 RCV001354721 |
304 | P>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA371657117 RCV000551269 rs1554562189 RCV002377046 |
305 | I>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586076225 RCV001192405 RCV001018920 CA371657107 RCV001800927 RCV002281146 |
305 | I>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554562185 RCV000705860 RCV000569950 |
306 | P>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1563548981 RCV002372322 CA371657094 RCV000818441 |
306 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000773030 rs1563548981 CA371657096 |
306 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001350978 rs1811151665 |
306 | P>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371657091 RCV000527251 rs1554562182 |
307 | E>Q | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554562176 CA371657069 RCV000547926 RCV000570689 |
308 | A>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554562176 RCV001237853 |
308 | A>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001237958 rs1811150445 |
309 | E>D | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA287953 RCV000214503 RCV000588924 rs587780101 RCV000636751 |
309 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371657054 RCV001019108 rs1586076147 |
310 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4802847 RCV000570742 RCV000233897 RCV002478858 rs753812768 |
310 | I>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000777081 rs1563548856 RCV000806728 RCV001539258 CA371657037 |
311 | G>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001019179 RCV001800929 CA371657034 rs1563548856 |
311 | G>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000544042 CA371657029 rs371480039 |
312 | L>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10578784 rs148517156 RCV001800569 RCV000216349 |
312 | L>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001557142 CA169602 RCV000528665 rs371480039 RCV000132302 |
312 | L>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000215710 CA10578783 rs876660584 RCV000690052 |
313 | A>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001358619 CA247602 RCV000656927 RCV000160802 rs730881862 RCV001420902 RCV000204213 |
313 | A>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs771086262 CA371657010 RCV000806235 |
314 | V>E | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs529845940 RCV002469021 CA166244 RCV000781636 RCV000130348 RCV000464039 |
314 | V>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10582600 RCV000228792 rs878854517 RCV002444895 |
315 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371656974 rs1586075972 RCV001827198 RCV001019444 |
317 | M>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782502 RCV000819960 CA371656983 RCV000584721 |
317 | M>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001019435 CA371656978 rs1586075983 RCV001221194 |
317 | M>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000485286 CA168521 RCV000477065 rs587782502 RCV000131642 |
317 | M>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001365455 rs1811146292 RCV001181020 |
318 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002372803 rs1811146499 RCV001048315 |
318 | T>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000213476 RCV000685781 CA10577367 rs876659969 RCV000213401 |
319 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002249473 CA371656951 RCV000773117 RCV001800872 rs1563548624 |
320 | K>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001048929 RCV001019574 CA371656942 rs1554562125 TCGA novel |
320 | K>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl dbSNP NCI-TCGA |
|
rs1586075907 RCV001004532 |
321 | N>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804176 RCV001564018 rs748453607 CA371656922 CA371656921 |
322 | Y>* | Breast carcinoma Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001218260 rs1811144443 |
322 | Y>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371656928 RCV000636768 rs1554562123 |
322 | Y>D | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000160785 RCV001054949 rs730881848 RCV000766497 RCV001019625 CA299608 |
323 | C>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554562110 RCV000657467 RCV001390697 |
325 | P>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325038 rs1586075820 CA371656883 RCV001019699 |
325 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000007359 rs121908973 RCV000166946 CA197104 |
326 | Q>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001280672 CA371656881 RCV003128640 RCV001176635 rs121908973 RCV002485614 RCV000688246 |
326 | Q>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000217834 rs876659586 RCV001853581 CA10578781 |
326 | Q>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586075779 CA371656868 RCV000793085 |
327 | G>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636754 RCV000776635 rs1554562099 CA371656861 |
328 | H>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001052277 rs1386471248 |
329 | P>H | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000561487 RCV001038610 rs1386471248 CA371656852 |
329 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000525614 CA371656849 rs1554562092 |
330 | S>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1811142330 RCV001347087 RCV002384482 |
330 | S>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782905 RCV000132550 RCV001371455 CA170056 |
331 | T>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA371656799 RCV000582203 RCV001056610 rs1554560506 |
336 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002515698 rs876660218 CA10578778 RCV000220662 |
336 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs770500095 RCV000759884 RCV000636749 RCV000771590 |
337 | T>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000465315 RCV000483396 RCV000166078 rs770500095 |
337 | T>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002438527 RCV001304203 rs1554560492 CA371656794 RCV000586602 |
337 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371656790 RCV000773596 RCV000806130 rs1335655343 |
337 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA371656787 RCV000574017 rs1554560467 RCV000534490 RCV001264446 |
338 | P>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554560467 RCV001034829 |
338 | P>T | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009713 CA371656776 rs1586066127 |
340 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000230649 RCV001818596 CA4802815 rs756023239 RCV000446226 RCV001770195 |
341 | S>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001228079 CA169196 RCV000132071 rs587782656 |
342 | L>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001227540 rs1810856747 |
343 | S>L | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001858196 RCV000570503 rs530636519 CA4802814 |
343 | S>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1563539146 RCV000772351 |
344 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000220210 RCV000170448 CA274767 RCV000763607 RCV000446931 rs767215758 |
344 | Q>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587780089 RCV001215264 |
345 | G>D | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000764783 rs587780089 RCV000212740 CA287889 RCV000476299 RCV000115774 |
345 | G>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001355371 RCV001082179 RCV000115776 RCV001293998 COSM1258764 RCV001255161 RCV000212741 RCV000589164 rs200297914 CA287895 |
346 | V>M | Malignant tumor of prostate Microcephaly, normal intelligence and immunodeficiency oesophagus Aplastic anemia Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1554560432 RCV000467574 |
347 | S>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10578777 RCV000213986 rs876660290 |
347 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371656735 RCV000705012 rs1563539035 |
347 | S>P | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578776 RCV000221225 RCV001229616 rs876660929 RCV002262811 |
348 | V>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001009784 RCV001041103 CA371656732 rs1586065979 |
348 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000218169 rs876660721 |
349 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035544 rs876659431 CA10578775 RCV000216015 |
349 | D>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371656720 RCV001017079 rs1586065938 |
350 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA350623 rs864622489 RCV000206611 |
353 | M>L | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA181263712 RCV000562581 RCV001829602 rs1028462350 |
353 | M>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064794336 RCV000776899 CA371656691 RCV001069235 |
354 | P>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566751 CA371656688 RCV001788291 RCV001800779 rs1354459986 |
354 | P>L | Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1354459986 RCV000564642 CA371656690 |
354 | P>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000479772 RCV002481512 CA16618701 COSM1102340 rs1064794336 RCV000550823 |
354 | P>S | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001188076 CA4802811 rs762376159 RCV001326911 |
355 | S>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001009794 RCV000527248 rs762376159 RCV000484152 CA4802810 |
355 | S>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000215331 rs777259845 RCV000539852 COSM1194753 RCV000780526 CA4802809 RCV000759885 |
356 | A>T | lung Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002222634 RCV000776898 CA371656666 RCV001043820 rs1563538793 |
358 | V>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001764710 rs768886664 RCV000583638 RCV000796652 CA4802808 |
359 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1810851931 RCV001176436 |
359 | N>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009860 RCV001210589 CA371656657 rs1307700838 |
360 | T>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA181263650 RCV001751315 rs879020505 RCV001800956 RCV001179042 |
360 | T>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002249405 rs1563538728 RCV000708721 CA371656651 RCV000686541 |
361 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001058136 rs1810850707 |
362 | T>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000132251 rs587782745 |
362 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371656634 RCV000007362 RCV001800916 RCV001009876 CA254010 rs121908974 RCV000772327 |
363 | Y>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000700024 CA287898 RCV000217684 RCV001818277 rs370229163 RCV000115777 |
364 | V>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs765403660 RCV000775386 RCV001373068 CA4802806 |
364 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1554560367 RCV000570307 CA371656623 |
366 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371656612 RCV000809117 rs1586065643 |
367 | T>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1425019959 RCV000668774 |
369 | S>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000129342 CA164242 rs587781438 |
372 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1377878017 RCV001209151 CA371656579 RCV001191157 |
372 | A>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000696308 CA371656571 rs1563538492 |
373 | D>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002440480 rs1563538477 CA371656565 RCV000696006 |
374 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000573000 RCV000636726 CA371656563 RCV001560376 rs1174990974 |
374 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1394437421 CA371656558 RCV001858316 RCV000564232 |
375 | W>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16044374 RCV000417077 rs1057519588 |
375 | W>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371656557 rs1394437421 RCV000700128 |
375 | W>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA332054 rs587780547 RCV000119184 |
377 | L>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000206036 RCV000564126 rs864622123 CA350106 |
378 | S>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371656517 RCV001800874 rs1563532732 RCV000773942 |
379 | E>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001009974 rs1586059630 CA371656521 |
379 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001279847 rs1810674788 |
380 | R>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130355 rs587781969 RCV000007358 RCV000220768 |
381 | P>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000695959 rs1554559357 CA371656494 |
382 | K>N | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586059584 RCV001860867 RCV001017460 |
383 | E>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573284 RCV000528325 rs772909239 CA4802789 RCV001584263 |
383 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000573508 rs772909239 CA371656492 RCV001341050 |
383 | E>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1554559348 RCV000583124 |
384 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs551802153 RCV000218105 RCV001067296 CA10578769 |
384 | I>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs748513310 RCV001554322 RCV002343244 RCV000636743 |
385 | K>missing | Breast carcinoma Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003153818 CA371656478 rs1563532612 RCV000704263 |
385 | K>E | Microcephaly, normal intelligence and immunodeficiency Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002343653 rs769453547 RCV000793737 CA4802788 |
385 | K>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748513310 RCV000775385 RCV001043609 |
386 | V>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299024 rs1810672909 |
386 | V>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4802785 RCV000699656 rs747632184 RCV000215651 |
387 | S>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1252203605 RCV000817973 RCV000581093 CA371656460 |
388 | K>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1252203605 RCV000584581 CA371656461 |
388 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554559323 RCV001783067 RCV000694464 CA371656435 RCV000569344 |
391 | Q>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000775384 RCV000808471 CA181260751 rs201958895 |
391 | Q>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
CA16612543 RCV000570523 rs941732827 RCV001194317 RCV001800687 RCV000468237 |
393 | F>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1060503470 CA16612368 RCV000466216 RCV002339187 |
394 | R>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1810670587 RCV001221720 |
394 | R>K | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554559314 RCV000583084 |
396 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs182030463 RCV001188074 CA4802784 RCV001239968 |
396 | L>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
CA371656390 RCV000564989 rs1554559308 RCV002530253 |
397 | S>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580312 rs200046373 CA4802782 RCV000800615 |
398 | Q>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs746965070 RCV000573003 RCV000473002 CA4802783 |
398 | Q>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001010176 CA915945778 rs1586059342 |
399 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002339633 CA371656383 RCV001230933 rs1430248021 |
399 | D>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1586059342 RCV001184974 |
399 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065088 rs779218232 |
400 | A>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs551602980 RCV000636712 CA371656374 |
400 | A>P | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000685569 rs1064795318 |
400 | A>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000217029 RCV002478803 rs551602980 RCV000988085 CA4802781 |
400 | A>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4802780 RCV000565537 RCV001835853 rs779218232 |
400 | A>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000206791 RCV000484365 RCV000217964 rs104895033 CA350787 |
401 | P>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs104895033 CA165947 RCV000130209 |
401 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000196440 RCV000114876 CA230732 rs104895033 RCV000131207 |
401 | P>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1563532144 RCV000778865 |
402 | T>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA197574 rs201373377 RCV000686355 RCV000167134 |
402 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1810667631 RCV001055302 |
403 | V>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371656359 RCV000568538 rs1554559273 |
403 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1810666621 RCV002357158 RCV001323664 |
405 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002355037 rs1810666233 RCV001052606 |
406 | S>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503460 RCV000466617 CA16612666 |
407 | C>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1473253247 RCV001341643 CA371656334 RCV001178736 |
407 | C>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002225329 RCV000588672 rs34120922 RCV000115778 RCV000200989 RCV000119194 VAR_051227 CA151515 RCV002490777 |
408 | K>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1810665559 RCV001227281 |
409 | T>I | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1185542329 RCV000531310 RCV002367817 CA371656315 |
410 | S>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000700924 RCV001010445 CA371656312 rs982325971 |
410 | S>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000773081 CA181260667 RCV001856041 rs982325971 |
410 | S>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000234208 rs878854504 CA10582598 RCV000579919 |
410 | S>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000833202 RCV000574288 RCV000694630 rs551032019 CA4802777 |
411 | S>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA371656309 rs1563531982 RCV000773900 RCV003117561 |
411 | S>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000775687 rs1563531964 CA371656298 |
412 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1810664293 RCV002366012 RCV001224703 |
413 | N>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA287901 RCV000589729 RCV000222002 RCV001087448 rs529340553 |
413 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1563531915 RCV000689933 |
414 | N>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000129532 rs587781532 RCV000560712 |
414 | N>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636713 rs1554559235 RCV002386023 CA371656286 |
414 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs764832388 CA4802776 RCV001010512 RCV000792228 |
415 | S>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4802775 rs776180689 RCV001318912 |
415 | S>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs756572268 RCV001010556 CA191930 RCV000534913 CA371656272 RCV002295316 RCV001582649 RCV000164855 |
416 | M>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA337757 rs863224713 RCV001010551 RCV000781644 RCV002503783 RCV000198264 RCV000759886 |
416 | M>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA371656276 rs1554559222 RCV000575533 |
416 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554559216 RCV002409468 RCV001057321 |
417 | V>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554559216 RCV000542974 CA371656266 |
417 | V>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4802773 RCV001299558 RCV001010563 rs768087330 |
417 | V>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
COSM347774 RCV000819368 COSM1102339 rs1554559212 RCV002415924 CA371656261 |
418 | S>* | lung upper_aerodigestive_tract Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome endometrium [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000636748 rs1554559212 CA16622017 |
418 | S>L | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001010571 RCV000657459 RCV000636766 rs1238152597 |
419 | N>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001304232 CA299611 RCV000212744 RCV000160786 rs730881849 |
419 | N>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000559800 RCV001010572 rs730881849 CA4802771 |
419 | N>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA371656260 rs730881849 RCV001010573 RCV001364886 |
419 | N>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1586058892 RCV001010617 |
420 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000515275 RCV000123203 RCV000757930 rs104895032 RCV000115780 CA230729 RCV001358304 RCV000114875 RCV000212745 |
421 | L>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001228702 rs1810660625 RCV002447146 |
422 | A>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572328 RCV001041861 CA371656233 rs1444306607 |
423 | K>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000463281 RCV002279233 RCV000565324 CA16612541 rs1060503478 |
425 | R>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA181260496 RCV001856009 rs916556331 RCV000772165 |
425 | R>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1060503478 RCV001307685 |
425 | R>T | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs778881191 RCV000700776 RCV001805815 CA4802769 |
427 | P>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001054209 rs1554559171 CA371656207 RCV000569911 RCV002491138 |
427 | P>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202302 RCV000165044 RCV000588529 RCV000476294 RCV001788056 CA192382 |
428 | N>D | Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1406123091 RCV000564622 CA371656201 RCV000525048 |
428 | N>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA371656197 rs1586058745 RCV001221145 RCV001010746 |
428 | N>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001188073 CA181260442 RCV000636699 rs370121348 |
429 | Y>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587782409 RCV001039652 RCV000131448 RCV000173758 CA168168 |
429 | Y>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001051883 rs370121348 |
429 | Y>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371656184 rs1554559149 RCV000537438 RCV001010788 |
430 | Q>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563531531 RCV001239659 RCV000773903 CA371656186 |
430 | Q>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1586058701 CA371656180 RCV001010796 |
431 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1258938703 RCV001010810 RCV001221398 CA371656173 |
432 | S>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554559140 RCV000550358 CA371656166 |
433 | P>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000164372 RCV000464605 rs757452107 RCV001797059 CA190795 |
434 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000167272 RCV000820553 rs757452107 CA197896 |
434 | T>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs757452107 RCV000538781 RCV001010864 CA371656162 |
434 | T>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1810656128 RCV001044578 |
437 | P>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1456827107 RCV000573699 RCV001063253 CA371656141 |
438 | S>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000166304 CA195519 RCV000780521 RCV000204846 rs786203131 |
438 | S>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000774986 RCV000699980 CA371656139 rs786203131 |
438 | S>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001355697 RCV001082062 rs28538230 RCV001719859 CA200704 RCV000115781 RCV000173760 RCV001292773 |
439 | I>M | Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs752837508 CA4802766 RCV000214707 RCV000229100 |
439 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001177230 rs1810654891 |
440 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636774 RCV001011010 CA371656119 rs1329281031 |
441 | K>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002386255 CA371656120 RCV000702528 rs1329281031 |
441 | K>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554559097 CA371656114 RCV000576143 RCV001069253 |
442 | S>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554559096 RCV000580205 CA371656111 |
442 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000799574 rs1554559094 CA371656107 |
443 | K>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636729 rs1554559094 CA371656105 |
443 | K>E | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575267 rs1554559092 CA371656103 |
443 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1237800234 RCV000571693 CA371656096 RCV000636738 |
444 | D>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000817450 rs1586058444 RCV002381840 |
445 | R>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563792 rs1554559085 CA371656086 RCV000806910 RCV001800777 CA371656085 |
445 | R>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575279 RCV001858317 rs1448696637 CA371656089 |
445 | R>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000573746 RCV001058183 rs1554559083 |
446 | A>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371656084 rs1586058411 RCV001545957 RCV000802333 |
446 | A>T | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs146403088 RCV000160787 CA239214 RCV000200818 RCV001264572 RCV000656928 |
448 | Q>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1563531108 RCV000777423 CA371656062 |
449 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001860655 RCV001011001 rs776210901 CA371656055 |
450 | Q>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs776210901 CA371656054 RCV000693711 |
450 | Q>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1011573169 CA371656050 RCV001591329 RCV000563541 RCV001050887 |
451 | Q>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000808353 CA371656046 rs1554559063 |
451 | Q>H | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554559065 CA658657799 RCV001228078 RCV000562977 RCV001764643 |
451 | Q>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371656048 RCV001011083 rs1554559068 |
451 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554559068 CA371656047 RCV000571072 RCV001245760 |
451 | Q>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1810650900 RCV002379872 RCV001228269 |
452 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs141137543 RCV000735122 RCV000131458 RCV002225444 RCV000199946 CA294382 RCV000212747 |
452 | T>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001187616 rs1810650609 |
453 | N>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1412358437 RCV001011162 CA371656032 RCV000791840 |
453 | N>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000123204 RCV001284025 rs587780774 RCV000571647 CA332810 |
454 | S>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA371656024 rs1554559041 RCV000561589 |
455 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1810649752 RCV001070358 |
455 | I>M | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236893 rs1554559041 RCV000772506 CA371656025 |
455 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554559038 RCV000584154 RCV001060890 |
456 | R>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001827176 rs1586058203 CA371656019 RCV001011063 |
456 | R>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554559036 RCV001800867 CA371656014 RCV000771446 |
456 | R>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1810649390 RCV001188474 |
456 | R>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371656011 rs1554559034 RCV001303461 RCV000582543 |
457 | N>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000222178 rs876659312 RCV000636705 RCV000479010 RCV000590244 CA10578767 |
457 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA332094 RCV000507373 RCV001575895 RCV000119215 rs544909538 RCV000215482 |
458 | Y>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
rs1810648570 RCV001188565 |
459 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554559028 RCV000552774 |
460 | Q>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000567288 RCV000539528 rs367760321 CA4802760 RCV001591216 RCV001821527 |
461 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA371655980 RCV000533485 rs1554559015 |
461 | P>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371655972 RCV000685203 rs1563530730 |
462 | S>F | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563530730 RCV001179520 |
462 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812465 CA4802758 rs745821964 |
463 | T>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001270949 rs1563530658 |
465 | K>* | Breast and/or ovarian cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1349928568 RCV000673266 RCV000584003 RCV002388183 RCV003159982 RCV000636764 |
466 | R>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001208142 rs1810646211 |
466 | R>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371655931 RCV000801906 rs1554558613 RCV000571949 RCV001356206 |
467 | E>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781213350 RCV001011347 CA4802727 RCV000468108 |
468 | R>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs730881851 RCV000562418 RCV000160789 CA299615 RCV000206062 |
468 | R>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001011348 rs781213350 CA4802728 RCV000815957 |
468 | R>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000697437 rs780365310 RCV001176913 CA371655921 |
469 | D>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000166769 rs148205441 CA196691 RCV000636701 |
469 | D>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA160966 RCV000129788 RCV000167890 RCV002225383 RCV000588734 RCV000121613 rs148205441 |
469 | D>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10578764 RCV000806185 RCV000220377 rs876660501 |
470 | E>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371655905 RCV001853929 RCV000581836 rs1554558584 |
471 | E>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000567179 CA10582597 RCV000231885 rs878854505 |
471 | E>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750711786 RCV000568186 RCV001559451 CA4802723 RCV000226778 |
472 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001190614 rs1810561933 |
473 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011437 RCV000988084 rs755805461 CA371655897 |
473 | Q>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755805461 CA4802721 RCV000484796 RCV000463881 RCV000213681 |
473 | Q>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA371655877 RCV002388045 RCV000636763 RCV000772316 rs1180796619 CA371655876 RCV001042170 |
475 | M>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001043821 CA16612537 RCV000579999 RCV000465521 rs767106269 |
475 | M>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen TOPMed gnomAD |
|
CA4802720 RCV000218142 rs767123014 RCV000506485 RCV000532578 |
477 | S>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1586054780 RCV001211950 RCV001011539 CA371655866 |
477 | S>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000775382 rs864622333 RCV000205695 |
478 | C>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1199013619 RCV001038392 RCV002391102 |
478 | C>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1199013619 RCV002391110 RCV001039705 |
478 | C>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1199013619 RCV000773787 RCV001067584 CA371655861 |
478 | C>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001850302 rs786202028 RCV000164629 CA191434 |
479 | K>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001194316 CA10631650 RCV000310003 RCV000563872 rs886063168 |
482 | R>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000460258 RCV002393159 CA16612361 rs775451862 |
482 | R>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001011636 rs1586054662 RCV001860676 CA371655827 |
483 | I>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002388484 CA371655829 rs876658347 RCV000801918 |
483 | I>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578763 rs876658347 RCV000214099 RCV001559436 RCV000229263 |
483 | I>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001308431 rs1586054649 |
485 | T>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001284189 RCV000473153 rs200891292 RCV000218203 COSM120953 CA4802717 RCV001800560 |
485 | T>M | upper_aerodigestive_tract Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA371655816 rs1586054649 RCV001011660 RCV001860677 |
485 | T>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002487589 RCV000775381 RCV001800875 rs572568222 CA4802716 |
486 | S>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000129206 CA163959 RCV000636744 rs587781380 RCV000486944 |
486 | S>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001849936 CA166803 RCV000130640 rs587782118 |
487 | C>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011702 rs1060503472 RCV000473379 CA16612477 |
488 | S>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503472 RCV001325784 |
488 | S>Y | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143948240 RCV000164141 RCV001354892 CA190135 RCV000197233 |
489 | L>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA371655788 RCV000820960 rs1447979380 |
490 | L>F | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA371655790 rs1586054565 RCV001011733 RCV001043710 |
490 | L>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002395149 RCV000546529 RCV000482670 rs776900339 CA4802715 |
491 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA166874 RCV000529643 rs587782130 RCV000130673 RCV000480769 |
492 | Q>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1382919150 RCV000571802 RCV001343892 CA371655776 |
492 | Q>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000559007 rs587782130 CA10578762 RCV000213507 RCV000732065 |
492 | Q>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs768883132 RCV001867862 CA4802714 RCV000576077 |
492 | Q>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002393580 RCV001233080 rs1586054483 |
493 | T>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1810557417 RCV001060662 |
493 | T>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1810557294 RCV001178464 |
493 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011801 rs1586054483 |
494 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA164698 RCV000129575 RCV000636783 rs587781557 |
494 | Q>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1381248118 RCV000580659 CA371655766 RCV001067525 |
494 | Q>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000482780 RCV000636722 RCV002485031 RCV000166379 rs764884516 |
495 | P>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000198393 RCV000781646 RCV000562638 rs863224714 RCV000223448 CA337891 |
495 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA371655759 RCV002390680 rs863224714 RCV000818907 |
495 | P>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA371655760 RCV000636740 rs747027298 |
495 | P>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000816943 CA371655753 rs1586054406 |
496 | A>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_025802 RCV000128985 RCV000759168 RCV000121612 rs3026268 RCV001079822 RCV002225382 RCV002498571 RCV001354750 CA160963 |
497 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001856099 rs1563527011 RCV000774899 CA371655748 |
497 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011858 CA371655745 rs1586054351 |
498 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772411713 RCV001057404 |
499 | S>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4802711 RCV000214461 rs772411713 RCV001306382 |
499 | S>L | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1554558483 RCV001049326 CA371655741 RCV000567802 RCV001566497 |
499 | S>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000684953 RCV001011907 CA371655734 rs1563526901 |
500 | L>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568444 CA371655727 RCV000657733 rs1554558472 RCV001005050 RCV001388337 |
501 | W>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011918 CA371655730 rs1586054279 |
501 | W>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000565151 RCV002225668 RCV001296546 CA371655706 RCV000792565 rs876660751 |
503 | N>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV000566537 rs757754183 RCV000815889 CA4802708 |
504 | K>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000773804 rs1563526839 |
504 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564904 RCV000781642 rs759232053 |
505 | E>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042538 rs1810553632 |
505 | E>K | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658535 RCV001227877 |
506 | Q>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10578760 RCV001354368 rs876658535 RCV000217177 RCV000471111 |
506 | Q>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001219487 rs587782520 |
507 | H>P | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371655678 RCV001011969 RCV000811328 rs1586054212 |
507 | H>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782520 RCV001561788 RCV000669514 RCV000131697 CA168618 |
507 | H>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000636735 rs1554558456 CA371655681 |
507 | H>Y | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000590402 rs1554558449 |
509 | S>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000686792 rs1563526747 |
509 | S>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001279846 RCV002393682 rs1810552588 |
509 | S>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371655668 RCV000535492 RCV000566294 rs1554558450 |
509 | S>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001838014 RCV001535627 RCV000636787 RCV001012033 CA371655659 rs1283330641 |
510 | E>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587780776 CA332816 RCV000123207 |
511 | N>K | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs876659367 RCV002515640 CA10578759 RCV000218117 COSM94803 |
512 | E>G | lung Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA371655649 rs1554558445 RCV000548104 RCV001012068 |
512 | E>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000560363 CA371655638 rs1554558440 |
513 | P>L | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001045276 RCV002256656 rs1810551219 |
513 | P>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060846 rs376653589 CA4802705 RCV000985866 RCV001012047 |
516 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001061291 CA4802704 rs754706758 |
516 | T>I | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587782344 RCV000131283 |
517 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002293443 CA16612475 RCV000475341 rs1040315184 RCV001175824 |
517 | N>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs876658744 RCV001323375 RCV001187829 |
517 | N>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503480 RCV000473949 CA16612360 |
518 | S>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858315 rs1554558423 RCV000561057 |
519 | D>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573249 CA181257926 RCV000536553 rs944499155 |
520 | N>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA339215 rs750981708 RCV000580918 RCV000200286 |
520 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1810549229 RCV001037286 |
521 | N>Y | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371655579 rs1554558419 RCV000566671 |
523 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1292640945 RCV000549479 RCV000561811 CA371655571 |
524 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000130718 RCV001338002 CA166976 rs587782150 |
525 | D>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000579440 CA371655562 rs1455928001 |
525 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000562848 rs1554558406 |
527 | D>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371655547 RCV000797531 rs1586053893 |
527 | D>E | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554558407 CA371655549 RCV000525608 RCV001012254 |
527 | D>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000410169 rs1057516332 |
530 | S>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs920311188 RCV001188975 RCV002560035 |
530 | S>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000705237 rs1554558401 RCV000582046 RCV000508363 CA371655530 |
530 | S>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA167864 RCV001778752 rs587782330 RCV000542468 RCV001357760 RCV000131247 |
531 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001012316 RCV001293999 rs545435120 RCV000524734 CA4802702 CA181257898 |
532 | V>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000484172 CA4802701 rs545435120 RCV000550537 RCV001012314 |
532 | V>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1586053803 RCV001012338 CA915945772 |
532 | V>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563526265 RCV000780525 RCV001873187 RCV002397557 CA371655500 |
535 | S>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1810545673 RCV001320319 |
537 | S>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572023 rs1554558319 |
538 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227109 rs1810545480 |
538 | K>I | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA181257891 RCV001525020 rs768431216 RCV000686615 |
539 | S>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000204344 rs730881852 RCV000771330 CA299618 RCV000160790 |
540 | H>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM3651644 CA371655467 rs1554558393 RCV000541863 RCV000583564 |
540 | H>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10578757 RCV000216784 RCV000460642 rs876658501 |
541 | A>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001805803 RCV000687714 CA181257881 rs876658501 |
541 | A>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001348753 rs764263689 CA4802699 |
542 | A>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4802698 rs760911186 RCV002397566 RCV000792579 |
542 | A>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000814543 rs587781624 CA371655450 |
543 | E>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001800429 rs587781624 RCV000781639 CA164976 RCV000129722 |
543 | E>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776417262 RCV000412165 RCV002402097 |
546 | R>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002388043 RCV000636709 rs1360502904 CA371655431 |
546 | R>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs772234785 RCV000801779 CA4802696 RCV001012541 |
548 | N>D | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs772234785 CA371655421 RCV000636719 |
548 | N>H | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1810540992 RCV001060946 RCV002402432 RCV001270950 |
549 | K>* | Microcephaly, normal intelligence and immunodeficiency Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1810540992 RCV002402830 RCV001299173 |
549 | K>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002491128 RCV000564317 rs766044684 RCV000458733 RCV001764666 RCV000636742 |
550 | K>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371655406 RCV000564900 rs1468125809 RCV001858197 |
550 | K>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000572703 RCV000810849 CA371655400 rs1554558368 |
550 | K>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000221563 rs766044684 RCV000985867 RCV000472929 |
551 | R>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001049849 rs1810539994 |
551 | R>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001191742 rs1586053587 RCV001863040 |
551 | R>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1586053587 RCV001012593 CA371655394 |
551 | R>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636767 RCV002388046 rs760237820 |
552 | E>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001012604 RCV000484053 CA16618700 RCV000554168 rs1064793213 |
552 | E>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578756 RCV001658036 rs876659960 RCV000213628 RCV000530341 RCV001800566 |
553 | M>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs746347634 RCV000701373 CA371655384 |
553 | M>L | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000985868 RCV000636736 rs746347634 CA4802693 RCV000573104 |
553 | M>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA371655376 RCV001860091 rs1554558349 RCV000582431 |
554 | D>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000459014 RCV001356139 RCV000115782 RCV001328384 CA287904 rs558023830 RCV000212748 |
556 | V>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000636784 rs771567358 CA4802692 |
556 | V>L | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002404780 RCV000636781 CA4802691 RCV000780527 rs771567358 RCV001292842 |
556 | V>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1286743873 RCV002404778 RCV000636733 CA371655354 |
557 | A>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA371655353 rs1286743873 RCV002397380 RCV000688543 |
557 | A>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001236330 rs1810537849 |
558 | I>K | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371655352 rs876659451 RCV000538636 RCV000566431 |
558 | I>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000216080 CA10578755 RCV000465308 rs876659451 |
558 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563525678 RCV000699746 |
559 | E>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235406 rs1810537339 |
560 | D>E | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000810168 rs1586053460 CA371655328 |
561 | E>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000463767 rs1060503455 RCV001190631 CA16612535 |
562 | V>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575315 rs754651655 CA4802689 RCV000679453 RCV000690804 |
562 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000773031 RCV001216933 CA371655319 rs1466493008 |
563 | L>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs935736921 CA181257800 RCV001213047 |
563 | L>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371655310 RCV000555795 RCV002404414 rs1554558323 |
564 | E>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001356803 RCV000129092 RCV000205604 CA293957 rs72550742 RCV000589500 RCV000212749 |
564 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1586053399 RCV000792089 CA371655306 |
565 | Q>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001313380 rs1586053399 |
565 | Q>K | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000815625 rs1586053378 |
566 | L>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636747 RCV000775111 rs980167139 CA181257789 |
567 | F>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA371655291 RCV000796112 rs1554558312 RCV000563554 |
567 | F>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs730881853 RCV001800471 RCV000160791 CA299621 RCV000771478 |
567 | F>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001012784 CA371655281 RCV000636745 RCV001591419 rs1488036998 |
568 | K>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA299624 RCV000576135 rs730881854 RCV000160792 RCV000531700 |
570 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA287907 RCV000115783 RCV000216588 RCV000685440 rs587780090 |
571 | K>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000636718 CA371655253 rs1554558303 RCV002464275 RCV001525100 |
572 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002404777 CA4802687 rs749918573 RCV000636724 |
572 | P>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000468647 RCV000481568 rs1060503483 RCV000582798 |
573 | E>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000587365 CA160969 VAR_025803 RCV000123208 rs142334798 RCV000121614 RCV000115784 RCV001354070 |
574 | L>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000216186 rs142334798 RCV001228729 CA10578754 |
574 | L>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000164194 CA190280 rs786201745 RCV000456402 |
575 | E>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1255733657 RCV002402794 RCV001248747 CA371655228 |
576 | I>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA371655222 RCV001012883 rs1341969209 |
577 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587781881 CA371655225 RCV000572371 |
577 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001236947 CA371655223 rs1341969209 |
577 | D>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000499428 RCV000589088 RCV000130210 rs587781881 CA165950 RCV000199051 |
577 | D>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000571489 rs1554558284 RCV001340530 CA371655216 |
578 | V>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs993110145 RCV000557188 RCV000777261 CA181257688 |
579 | K>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs993110145 RCV000636780 CA371655212 RCV002404779 |
579 | K>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563525210 RCV000697515 |
580 | V>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854506 RCV001248151 |
580 | V>F | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854506 RCV000232061 CA10582596 |
580 | V>I | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1337679118 RCV002411748 RCV001204081 CA371655198 |
581 | Q>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA371655200 RCV000574278 rs1337679118 |
581 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001185207 rs1337679118 |
581 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218804 rs1810529464 |
583 | Q>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA350525 RCV000217030 RCV001753608 RCV000206506 rs864622143 RCV002478725 |
583 | Q>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1810529233 RCV001180741 |
583 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554558270 RCV000636737 CA371655176 |
584 | E>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554558267 RCV000533101 CA371655171 RCV000581270 CA371655170 |
584 | E>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000461649 RCV000567576 RCV002475888 rs763926389 CA4802685 RCV000679454 RCV002282161 RCV001358087 |
585 | E>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554558265 RCV002406510 RCV000669632 |
585 | E>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001349456 RCV001184834 rs1810527909 |
586 | D>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA193486 RCV001221587 RCV000165470 rs786202588 |
586 | D>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586053076 RCV000814255 CA371655155 |
587 | V>I | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1810527499 RCV001204074 |
587 | V>QGHKTRVRN* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001180650 rs1810527107 |
588 | N>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000545718 RCV001562276 RCV000218049 rs876658681 CA10578753 RCV001264445 |
588 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001182415 rs1810526502 |
589 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000566788 CA371655142 rs1554558251 |
589 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002397412 RCV000694299 rs1563525004 |
590 | R>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000824343 RCV002397743 rs1586053003 CA371655130 |
590 | R>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371655132 RCV001873193 rs1563524967 RCV000781640 |
590 | R>T | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554558249 RCV000568906 CA371655129 |
591 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554558245 RCV000636776 CA371655121 |
592 | R>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001013103 rs1586052969 CA371655117 |
592 | R>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554558244 RCV000558525 CA371655116 |
592 | R>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA287910 RCV000656929 RCV000988083 RCV000115785 rs146989944 RCV000212750 |
593 | P>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA371655114 RCV001827182 rs146989944 RCV001013108 |
593 | P>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000812953 rs1586052920 |
594 | R>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580378 CA371655109 RCV001218433 rs1554558241 |
594 | R>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1170559670 RCV000563668 CA371655106 |
594 | R>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1586052885 CA371655095 CA371655096 RCV001013174 RCV000815451 |
595 | M>I | Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001069753 RCV002411609 RCV001759846 rs1005715125 CA181257649 |
596 | D>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371655092 rs1467034784 RCV001349814 |
596 | D>H | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1467034784 CA371655093 RCV001231153 |
596 | D>N | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001241999 rs1005715125 RCV001013181 CA371655089 |
596 | D>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001013180 rs1467034784 CA371655091 |
596 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003166371 RCV000817780 rs1586052851 |
597 | I>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000772164 CA181257648 RCV001800869 RCV002282362 rs864622167 |
597 | I>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1810523727 RCV001751680 RCV001348627 |
597 | I>M | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001183452 rs864622167 RCV000205939 CA350030 |
597 | I>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1810523605 RCV001184576 |
598 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854507 CA10582594 RCV000229725 |
599 | T>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000797402 rs775848374 CA371655070 |
599 | T>I | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000534730 rs775848374 RCV000215909 RCV003153514 CA4802684 |
599 | T>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001217851 CA4802683 RCV002411808 rs553571469 |
601 | D>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
rs1563524801 RCV001013242 RCV001314073 CA371655049 |
602 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563524801 CA371655050 RCV000774837 RCV001351644 |
602 | T>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000589243 RCV001081367 RCV000424535 RCV001030565 RCV000164543 RCV001357000 rs192236678 CA191232 |
603 | F>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs774324419 CA195896 RCV000636773 RCV000586042 RCV000166446 |
606 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1810521873 RCV001221049 |
607 | A>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000776791 rs773678006 CA371655004 |
609 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001201882 rs372012641 |
609 | P>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563298 rs372012641 RCV000206603 CA350617 |
609 | P>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA371654982 rs1563524682 RCV000772916 |
612 | S>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001040493 rs1554558199 RCV000569440 CA371654978 |
613 | K>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000483770 RCV000551607 rs770345026 RCV000567792 RCV000985869 CA4802680 |
614 | I>M | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003166205 rs1586052647 RCV000801397 CA371654967 |
614 | I>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1810520002 RCV001039183 |
615 | S>F | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000483350 RCV000471606 RCV001290536 CA4802679 rs746632073 RCV000569351 |
615 | S>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1586043842 RCV001013395 CA371677327 |
616 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001525393 RCV000411194 rs1057516611 |
617 | E>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001238488 rs766602873 |
617 | E>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001177958 rs1660299603 RCV001875869 |
617 | E>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219280 RCV000460678 RCV001290554 rs766602873 CA4802667 |
617 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000817787 CA371677320 rs766602873 |
617 | E>Q | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060503466 RCV000475546 RCV001013351 |
618 | N>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244246 RCV000985870 rs763546746 RCV002409315 CA4802666 |
619 | E>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1810270891 RCV001227171 |
620 | I>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001309694 rs1810270999 |
620 | I>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1810270617 RCV001068022 |
621 | G>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000167920 CA167364 RCV000130912 rs587782221 |
622 | K>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1810269932 RCV001037324 |
623 | K>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA181275404 RCV000565273 RCV000687082 rs962092255 COSM1102335 |
624 | R>C | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002412054 RCV001337645 rs962092255 |
624 | R>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA294312 RCV000131180 RCV000197335 RCV000212751 rs587782297 |
624 | R>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000572017 RCV001068570 rs587782297 CA371677268 |
624 | R>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587782297 RCV001179448 |
624 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000550938 rs1554556932 |
624 | R>Q | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371677263 rs1554556929 RCV002406368 RCV000636714 |
625 | E>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000466304 CA16612359 rs369049359 RCV000775379 |
625 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000636700 CA371677254 rs1237629649 RCV001013503 |
626 | L>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs762174459 CA338447 RCV000199176 |
627 | K>M | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002272179 CA4802664 rs762174459 RCV000214447 RCV000232800 |
627 | K>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000582656 rs1178384498 RCV000795888 RCV001770534 |
628 | E>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA294275 RCV001084223 RCV000212752 RCV000224857 RCV002498542 rs115321485 RCV000131006 RCV002225345 |
628 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000814763 CA371677239 rs1586043675 |
629 | D>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001162815 rs1586043675 |
629 | D>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745559078 CA16612655 RCV000462714 RCV001764447 |
629 | D>Y | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000766498 rs377132067 CA208304 RCV000194251 RCV000206789 RCV000561571 |
630 | S>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
rs1064793477 RCV000486410 CA16618699 RCV001013475 RCV001309682 |
631 | L>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371677219 RCV000821475 CA371677218 rs1221760506 |
632 | W>C | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV001050061 rs1586043635 CA371677224 RCV001013520 RCV000985871 |
632 | W>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371677211 rs1554556897 RCV001013546 RCV000636720 |
633 | S>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000534847 rs1554556892 CA371677210 |
634 | A>T | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA168703 RCV000219708 rs587782545 RCV000227700 RCV000131755 RCV000763606 |
635 | K>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587782545 RCV001247748 |
635 | K>E | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697007 rs1563516272 CA371677191 |
636 | E>D | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000779565 CA913189512 RCV002406705 rs1563516254 |
637 | I>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658613 RCV000795459 RCV000221383 CA10578751 |
637 | I>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001034923 rs372877871 CA4802660 COSM198245 |
637 | I>M | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000229344 CA164965 RCV001354210 RCV000129714 rs199657566 RCV000214531 RCV001193652 |
638 | S>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Familial ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000473926 RCV001589032 CA192486 RCV000165086 rs756036331 |
638 | S>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1810188771 RCV002412057 RCV001338456 |
640 | N>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000204732 RCV000483254 CA197577 rs748073091 RCV000167135 |
640 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000698523 rs1563513669 CA371676796 |
641 | D>E | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs921235584 CA16612357 RCV000731912 RCV000471777 |
641 | D>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000807436 rs1586040820 CA371676801 |
641 | D>N | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000204812 RCV000129561 RCV000780524 rs587781547 CA164668 RCV000206550 |
642 | K>R | Malignant tumor of prostate Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1586040775 RCV001219743 |
643 | L>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000588176 RCV000564678 rs764050423 RCV001345706 CA181274836 |
644 | Q>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371676778 rs1554556598 RCV000553376 |
644 | Q>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000816582 rs1172294340 CA371676761 |
645 | D>E | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1064796613 RCV000478655 CA16618698 RCV001317951 RCV002413340 |
645 | D>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064796613 RCV000565372 RCV001571743 RCV001071353 CA371676770 |
645 | D>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554556587 RCV000574244 |
647 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1477953712 RCV000525296 CA371676724 RCV001577433 RCV000573162 |
647 | S>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554556579 RCV001071174 RCV000572263 RCV001821661 CA371676688 |
649 | M>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371676695 RCV001013779 rs1554556582 RCV000590872 RCV001041010 |
649 | M>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000542436 CA371676661 rs1554556572 |
651 | P>L | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001188309 RCV001859128 rs1810185871 |
651 | P>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703677 CA4802637 RCV002422587 rs780360772 |
652 | K>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs780235686 RCV002420406 RCV000554742 |
654 | L>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636769 rs758728938 CA4802634 RCV002420712 |
654 | L>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1057516668 RCV001008143 RCV000566195 RCV000411916 |
658 | E>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130735 CA167004 rs587782155 RCV001547889 RCV000543794 |
658 | E>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000817079 rs1410677050 CA371676539 |
659 | F>C | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16612653 RCV000456698 RCV001524345 rs1060503469 |
659 | F>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580517 CA181274807 rs201781110 |
660 | R>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000213321 CA10578750 rs201781110 RCV001812237 RCV000695934 |
660 | R>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000195616 RCV000486313 RCV000566063 CA335799 RCV001731429 rs201781110 |
660 | R>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002418960 rs1810183784 RCV001317621 |
661 | S>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1810183362 RCV001342947 RCV002419010 |
662 | L>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371676504 rs1586040566 RCV001013911 |
662 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000132067 rs587782653 |
663 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000556348 CA371676495 rs1554556547 |
663 | V>L | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000684896 rs1554556544 RCV000570062 CA371676482 |
665 | K>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000410892 rs1057516852 |
667 | S>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs374638426 CA181274796 RCV001297668 |
667 | S>F | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000230585 RCV000115786 RCV000515337 RCV001778709 RCV000212753 rs587780091 CA287913 RCV001328956 |
667 | S>P | Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138913151 CA4802632 RCV000562305 RCV000636746 |
668 | T>A | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001800543 rs876658336 CA10578748 RCV000215899 |
668 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658336 RCV001208843 |
668 | T>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658488 RCV000213231 RCV001828089 CA10578747 |
670 | R>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574937 CA371676451 rs1554556522 |
670 | R>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554556522 RCV000807866 CA371676453 |
670 | R>K | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014078 rs1563513183 RCV000706937 CA371676444 |
671 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs6413508 CA4802630 RCV000568348 RCV000234509 RCV000788461 |
672 | P>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001338810 RCV002418996 rs1810179050 |
673 | S>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371676428 RCV000774854 rs1563513091 |
674 | G>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371676430 rs1563513091 RCV000988080 |
674 | G>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001856045 CA371676425 rs1563513080 RCV000773353 |
674 | G>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371676423 RCV001858631 RCV000985872 rs1586040318 |
675 | I>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1404296922 RCV000794371 RCV000573489 CA371676413 |
676 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA299630 RCV000235191 RCV000205938 RCV000160794 rs730881856 RCV001788054 |
677 | D>N | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. Aplastic anemia Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1810178166 RCV001063192 |
678 | D>G | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554556498 RCV000667632 RCV000772514 |
678 | D>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000560001 CA4802628 rs370295427 RCV000567272 |
679 | Y>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1036111786 RCV001221956 |
680 | G>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000204839 rs200564603 CA349023 RCV000505926 RCV000220088 |
680 | G>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1425101720 RCV001238227 CA371676383 RCV001014161 |
680 | G>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA371676380 RCV000567898 RCV001858377 rs1554556485 |
681 | Q>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001233381 rs1554556485 |
681 | Q>E | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516869 RCV000410853 |
683 | K>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1586040200 RCV002551769 RCV001014209 |
684 | N>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002558926 rs1810176238 RCV001179908 |
684 | N>H | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800211 rs1554556477 RCV000561958 CA371676357 |
684 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371676347 RCV000810146 rs765458801 |
685 | F>L | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768715280 CA4802627 RCV001014243 RCV002549404 |
685 | F>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001366480 RCV001014246 RCV000985873 CA371676350 rs1181142133 |
685 | F>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002516520 rs786203920 RCV000167435 CA198303 |
686 | K>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001052398 rs786203920 |
686 | K>E | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580181 rs186371605 RCV000709061 CA4802625 |
687 | K>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000706693 rs1563512800 CA371676328 |
688 | F>C | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563512800 RCV001348021 |
688 | F>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371676325 rs1554556461 RCV000584702 |
689 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000582103 RCV001860092 CA371676320 rs1554556458 |
689 | K>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1810173689 RCV001295808 |
690 | K>N | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000115787 RCV000569267 CA287916 RCV000206186 rs587780092 |
690 | K>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772059959 CA371675938 RCV001014294 RCV001315087 |
691 | V>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1563508748 CA371675930 RCV001856011 RCV000772231 |
691 | V>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575268 CA4802607 rs772059959 RCV000227442 |
691 | V>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060503474 CA16612649 RCV001755702 RCV000466915 RCV000775743 |
692 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563508706 RCV000699683 CA371675893 |
693 | Y>C | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4802606 RCV000561103 RCV001059040 rs746090959 |
694 | P>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1586035536 CA371675874 RCV000818554 |
694 | P>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000556515 CA371675852 rs1554555835 |
695 | G>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000564238 RCV001307872 CA371675849 rs1554555834 |
695 | G>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001217920 RCV001773488 rs1554555835 |
695 | G>R | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749276965 RCV001014382 CA371675832 RCV001243253 |
696 | A>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs749276965 RCV000805300 CA4802604 RCV002422757 |
696 | A>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000685451 RCV000773958 rs1462278909 CA371675824 |
696 | A>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1586035456 CA371675792 RCV001014405 |
698 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001525576 rs1810039016 RCV001034830 |
699 | L>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1301956720 RCV001239340 |
700 | P>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219087 rs1367898317 |
700 | P>L | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000464532 RCV001821291 rs1060503461 CA16612356 RCV000562388 |
700 | P>T | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1810038215 RCV001051769 |
701 | H>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001826793 rs587781567 RCV000129592 CA164739 |
701 | H>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568027 CA371675710 rs1554555821 |
702 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371675685 rs1554555819 RCV000550160 |
703 | I>T | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001186847 rs1810037245 |
704 | G>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1810037139 RCV001062356 |
705 | G>E | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881857 RCV001535781 RCV000212754 RCV000160795 CA299633 RCV000409031 |
706 | S>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001014517 rs1563508381 RCV000688159 |
707 | D>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554555782 RCV000636703 |
707 | D>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4802603 RCV002418849 RCV001246959 rs756580887 |
708 | L>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001014538 rs1586035313 RCV002549405 CA915945760 |
709 | I>L | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371675559 RCV000568915 rs1554555808 RCV000704836 |
710 | A>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002248691 RCV000475083 rs1060503454 RCV000564631 CA16612647 |
710 | A>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001040396 RCV003155341 RCV001284192 rs1810035825 |
711 | H>L | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA181273288 rs780333168 RCV001014560 RCV000701361 |
711 | H>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000575158 rs786204096 RCV000168012 |
712 | H>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA194574 rs781520763 RCV001241624 RCV000165937 |
712 | H>N | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001224421 CA371675513 rs1361799559 RCV002418780 |
712 | H>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001040397 rs781520763 RCV003155342 RCV001284193 RCV002416346 |
712 | H>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563097 rs986903713 CA16612646 RCV000470877 |
713 | A>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554555795 RCV000568665 CA371675491 |
713 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001041492 rs1810034741 |
714 | R>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160804 CA299657 RCV000215628 RCV000204431 rs730881864 RCV000515171 |
714 | R>* | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4802601 RCV000575176 rs730881864 RCV000636782 RCV001584370 |
714 | R>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753270166 RCV000569966 CA4802599 RCV001561929 RCV000526011 |
714 | R>Q | Microcephaly, normal intelligence and immunodeficiency Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001246652 rs1810033651 |
715 | K>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066631 rs1810034093 |
715 | K>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1810033982 RCV001242070 |
716 | N>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002498572 RCV000121615 RCV000128986 RCV000589914 rs72563785 RCV002225384 CA160972 RCV000168432 |
716 | N>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA371675415 RCV000551501 RCV000583856 rs1554555764 |
717 | T>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000780522 RCV000534044 rs587780093 RCV000212755 RCV000115788 RCV000515194 CA287919 |
717 | T>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs864622241 RCV000775377 RCV000206749 |
719 | L>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000772940 RCV001869091 rs1563508063 CA371675389 |
719 | L>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586035111 RCV000808618 |
720 | E>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066917 rs1810032277 |
720 | E>D | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000223177 RCV001297564 rs876660294 CA10578744 |
720 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001860770 rs876660294 CA371675375 RCV001014622 |
720 | E>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000486706 RCV001383121 rs1064795816 CA16618697 RCV000573618 |
721 | E>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064795816 RCV002256715 RCV001233494 |
721 | E>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000527358 rs1554555751 CA371675355 |
721 | E>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA334459 RCV000168229 rs786204181 |
722 | W>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001349925 rs1810031465 |
722 | W>C | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564002 CA371675343 RCV001235751 rs1554555748 |
722 | W>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001766677 RCV001014662 RCV000805582 rs786204181 CA371675340 |
722 | W>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000775376 CA181273264 RCV001856114 rs759888769 |
723 | L>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001210140 RCV002429891 rs759888769 |
723 | L>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003117692 rs1586035037 RCV001014666 CA371675321 |
724 | R>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1810030774 RCV001071287 |
725 | Q>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014678 CA10582591 RCV000234128 rs878854510 |
725 | Q>P | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs878854510 RCV001212875 CA371675302 RCV001186738 |
725 | Q>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000539958 CA371675287 rs1554555736 |
726 | E>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002431894 RCV001315344 rs1554555736 |
726 | E>G | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001307900 rs1421870412 CA371675292 RCV001014641 |
726 | E>K | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA371675262 rs1586034984 RCV000793368 |
727 | M>I | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000563873 CA371675275 RCV001858119 rs1554555732 |
727 | M>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586034964 RCV001233607 |
728 | E>D | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16612355 rs1060503487 RCV000469108 |
728 | E>V | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001213273 rs1809726528 |
729 | V>A | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371674836 RCV000636698 rs1554554267 |
730 | Q>* | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs369649307 RCV001049269 RCV000115789 CA287922 RCV000775375 |
731 | N>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1554554265 RCV000552881 RCV002431579 CA371674821 |
732 | Q>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000771688 rs1311278427 RCV001059710 CA371674815 |
733 | H>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001014745 RCV000636756 CA181268780 rs998714046 RCV000985874 |
733 | H>R | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4802588 RCV001529445 rs751824753 RCV001800788 RCV000570498 |
734 | A>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1809724889 RCV001343582 RCV001187985 |
736 | E>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756831345 RCV001014726 RCV003163056 CA4802587 RCV000665016 |
736 | E>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs756831345 RCV001177815 RCV001323041 |
736 | E>Q | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753596803 RCV000220264 CA10578742 RCV001303812 |
737 | E>D | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA371674784 RCV000529007 rs1554554247 RCV001014801 |
737 | E>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000665934 rs1554554251 RCV000773336 |
737 | E>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10578741 RCV001800553 RCV000759174 RCV000214956 rs876659097 |
738 | S>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1809723362 RCV001309554 |
739 | L>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA299639 RCV000160797 RCV000764782 rs370058152 RCV000590749 RCV000168129 |
739 | L>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554554240 CA371674767 RCV000580703 RCV000670155 COSM1102332 |
740 | A>V | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000811175 CA371674765 rs1586024237 |
741 | D>N | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001527001 CA4802584 RCV000541325 rs767523514 RCV000216943 RCV000566491 RCV000553933 CA371674753 |
742 | D>E | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001014850 CA181268727 rs746479577 RCV000702271 RCV001174569 |
742 | D>Y | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000666188 RCV000215231 rs876659551 |
743 | L>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000532625 rs1554554233 RCV000679459 |
744 | F>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698449 RCV000564630 CA4802562 RCV000578737 rs751570713 CA371674717 RCV000670725 |
746 | Y>* | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1554553893 RCV000565543 RCV001858118 CA371674719 |
746 | Y>C | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs766237464 RCV001236948 RCV002430012 |
747 | N>I | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4802561 rs766237464 RCV000985875 RCV000545104 RCV000564498 |
747 | N>S | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001337785 rs1809633675 |
748 | P>S | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs864622446 RCV000205239 CA349423 RCV000219183 |
749 | Y>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371674703 RCV001014913 rs1199617209 |
749 | Y>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000529264 CA371674690 RCV002448665 rs1554553868 |
750 | L>F | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001058000 rs1809632346 |
753 | R>missing | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773020664 RCV000685557 CA371674672 |
753 | R>K | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000403315 CA10631746 rs773020664 |
753 | R>T | Microcephaly, normal intelligence and immunodeficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002447325 RCV001313010 rs1809632212 |
754 | R>missing | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1563495055 RCV000773957 CA371674662 |
755 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371664203 rs1586116169 |
3 | K>N | No |
ClinGen Ensembl |
|
|
rs771376603 CA4803107 |
3 | K>R | No |
ClinGen ExAC |
|
|
CA4803100 rs764914981 |
11 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752964949 CA181281141 |
26 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs752964949 CA4803060 |
26 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4803054 rs765551184 |
39 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs770618624 CA371663023 |
45 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4803052 rs773865323 |
45 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371662985 rs1450189149 |
49 | T>I | No |
ClinGen gnomAD |
|
|
rs1064794807 RCV000485569 CA16618717 |
49 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000481636 rs1064794651 CA16618716 |
51 | N>KC | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4803046 rs769700749 |
54 | V>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 62 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560337591 CA4803019 |
70 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 74 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554568344 RCV000657291 |
75 | G>missing | No |
ClinVar dbSNP |
|
|
CA371662532 rs587782179 |
75 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1064795037 CA16618712 RCV000486983 |
81 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 82 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 83 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 99 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778943002 CA4803013 |
104 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA181280563 rs13312858 VAR_025794 |
105 | K>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1161413131 CA371662255 |
106 | F>L | No |
ClinGen TOPMed |
|
|
rs587780096 CA16618711 RCV000485413 |
109 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs587780096 CA287931 RCV000115793 |
109 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1355269482 CA371662146 |
110 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 111 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371662144 rs1306328242 |
111 | E>K | No |
ClinGen TOPMed |
|
|
CA371662113 rs1415842714 |
116 | C>Y | No |
ClinGen gnomAD |
|
|
CA371662055 rs1216167429 |
122 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 124 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs111244949 CA181280374 |
133 | L>S | No |
ClinGen Ensembl |
|
|
rs753219054 CA4802985 |
137 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4802983 rs752672571 |
140 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 147 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554567847 RCV000657818 |
160 | K>* | No |
ClinVar dbSNP |
|
|
rs766055272 CA4802954 |
161 | T>R | No |
ClinGen ExAC |
|
|
rs1463253830 CA371660705 |
163 | C>Y | No |
ClinGen TOPMed |
|
|
CA4802951 rs776810966 |
165 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4802950 rs776810966 |
165 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs182756889 CA371660412 |
169 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371660398 rs587782411 |
170 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs904773926 CA181279293 |
173 | K>N | No |
ClinGen Ensembl |
|
|
RCV000160800 CA299648 rs730881861 |
175 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA371660275 rs1293382034 |
179 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
RCV000483781 CA16618706 rs1064793211 |
182 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA181279270 rs151070415 |
183 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 185 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371659240 rs1272494402 |
208 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 208 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752104183 CA4802917 |
211 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1811503894 RCV001192402 |
213 | S>A | No |
ClinVar dbSNP |
|
|
CA181276735 rs530438634 |
223 | K>T | No |
ClinGen Ensembl |
|
|
RCV000657660 rs1554564205 CA371658928 |
233 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA371658879 rs1358736677 |
238 | L>S | No |
ClinGen TOPMed |
|
|
rs1434146100 CA371658855 |
242 | V>F | No |
ClinGen TOPMed |
|
| TCGA novel | 244 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4802888 rs754243946 |
255 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 259 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 259 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328090653 CA371658678 |
260 | H>R | No |
ClinGen gnomAD |
|
|
rs1382088021 CA371658671 |
261 | N>H | No |
ClinGen gnomAD |
|
|
CA371658554 rs730881847 |
272 | D>V | No |
ClinGen gnomAD |
|
|
RCV001175271 rs1554563912 |
273 | T>R | No |
ClinVar dbSNP |
|
|
CA371658509 RCV000759890 rs1563559349 |
277 | N>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs876661254 CA10577366 RCV000223024 |
284 | D>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA371658311 rs1439418573 |
290 | I>V | No |
ClinGen gnomAD |
|
|
CA181276279 rs796945047 |
295 | D>N | No |
ClinGen Ensembl |
|
|
rs1241439290 CA371658202 |
296 | M>V | No |
ClinGen gnomAD |
|
|
CA4802878 rs757787958 |
297 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1037051703 CA181276263 |
298 | Q>R | No |
ClinGen gnomAD |
|
|
CA4802877 rs754113612 |
299 | R>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000220368 CA10577365 rs779798363 |
299 | R>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs764823411 CA4802849 |
303 | R>G | No |
ClinGen ExAC |
|
| TCGA novel | 309 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs876660584 CA371657022 |
313 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4802846 rs771086262 |
314 | V>G | No |
ClinGen ExAC gnomAD |
|
|
COSM3432604 rs1429467104 CA371656985 |
316 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1586075954 RCV001008460 |
319 | T>missing | No |
ClinVar dbSNP |
|
|
rs1191959691 CA371656953 |
319 | T>I | No |
ClinGen gnomAD |
|
|
CA371656933 rs1586075889 |
321 | N>K | No |
ClinGen Ensembl |
|
|
CA4802844 rs770441030 COSM1458552 |
322 | Y>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
| TCGA novel | 323 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4802843 rs781711300 |
324 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA181268894 rs868355628 |
325 | P>F | No |
ClinGen Ensembl |
|
| TCGA novel | 328 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs587782905 CA4802841 |
331 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 332 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371656838 rs1437392838 |
332 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 332 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205025865 CA371656770 |
341 | S>G | No |
ClinGen TOPMed |
|
|
CA371656716 rs1252084303 |
350 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 357 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371656656 rs1307700838 |
360 | T>A | No |
ClinGen gnomAD |
|
|
RCV000589984 CA371656613 rs1554560363 |
367 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 371 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4802804 rs769361806 |
375 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA371656475 rs769453547 |
385 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586059509 CA371656472 |
386 | V>I | No |
ClinGen Ensembl |
|
|
CA181260760 rs947104724 |
388 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371656454 rs1246157539 |
389 | M>L | No |
ClinGen TOPMed |
|
|
CA371656377 rs709816 |
399 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4802779 rs761214266 |
404 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA371656352 rs753212974 |
404 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1387037890 CA371656346 |
405 | E>G | No |
ClinGen Ensembl |
|
|
rs1810666368 RCV001194315 |
406 | S>A | No |
ClinVar dbSNP |
|
|
rs764832388 CA181260567 |
415 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA4802770 rs772147514 |
420 | T>S | No |
ClinGen ExAC |
|
|
CA371656241 rs1336243918 |
422 | A>S | No |
ClinGen gnomAD |
|
|
CA371656237 rs1330644372 |
423 | K>E | No |
ClinGen gnomAD |
|
|
rs1349554940 CA371656227 |
424 | M>V | No |
ClinGen TOPMed |
|
|
CA371656200 rs1406123091 |
428 | N>S | No |
ClinGen gnomAD |
|
|
rs1320528508 CA371656178 |
431 | L>P | No |
ClinGen gnomAD |
|
|
rs1258938703 CA371656172 |
432 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 433 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181260434 rs977871677 |
434 | T>A | No |
ClinGen Ensembl |
|
|
CA4802768 RCV000479687 rs749512960 |
435 | K>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs756208277 CA4802767 |
436 | L>F | No |
ClinGen ExAC TOPMed |
|
|
rs1287344038 CA371656125 |
440 | N>I | No |
ClinGen gnomAD |
|
|
rs751876787 CA4802764 |
441 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1237800234 CA371656095 |
444 | D>G | No |
ClinGen gnomAD |
|
|
rs146403088 CA181260389 |
448 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776210901 CA4802762 |
450 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1011573169 CA181260382 |
451 | Q>* | No |
ClinGen Ensembl |
|
|
rs1380924268 CA371656034 |
453 | N>S | No |
ClinGen gnomAD |
|
|
CA371656028 rs587780774 |
454 | S>C | No |
ClinGen gnomAD |
|
|
CA371655991 rs1397458119 |
459 | F>L | No |
ClinGen gnomAD |
|
|
CA371655957 rs1563530658 |
465 | K>E | No |
ClinGen Ensembl |
|
|
rs1213870507 CA371655951 |
465 | K>N | No |
ClinGen gnomAD |
|
| rs1349928568 | 466 | R>G | Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1349928568 | 466 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434652935 CA371655929 |
467 | E>G | No |
ClinGen Ensembl |
|
|
CA4802729 rs769862680 |
468 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4802725 rs780365310 |
469 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371655920 rs780365310 |
469 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758947240 CA4802724 |
470 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 471 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371655896 rs755805461 |
473 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767106269 CA371655882 |
475 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs786202028 CA371655851 |
479 | K>I | No |
ClinGen TOPMed |
|
|
CA181258170 rs775451862 |
482 | R>I | No |
ClinGen TOPMed |
|
|
CA371655831 rs1371060137 |
483 | I>V | No |
ClinGen TOPMed |
|
|
rs1323759953 CA371655825 |
484 | E>Q | No |
ClinGen gnomAD |
|
|
rs200891292 CA4802718 |
485 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747027298 CA4802713 |
495 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000160803 CA299654 rs730881863 |
496 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs915825113 CA181258037 |
498 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 503 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371655644 rs754267250 |
512 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs921830647 CA181257975 |
515 | D>Y | No |
ClinGen Ensembl |
|
|
CA181257948 rs111239312 |
519 | D>Y | No |
ClinGen Ensembl |
|
|
rs1186140215 CA371655556 |
526 | T>K | No |
ClinGen TOPMed |
|
|
RCV000114874 rs104895031 CA230726 |
527 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA181257903 rs920311188 |
530 | S>Y | No |
ClinGen TOPMed |
|
|
rs761541023 CA4802700 |
532 | V>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 537 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000757548 rs1563526063 |
546 | R>missing | No |
ClinVar dbSNP |
|
|
CA371655432 rs1360502904 |
546 | R>K | No |
ClinGen gnomAD |
|
|
CA371655424 rs1418547527 |
547 | S>* | No |
ClinGen gnomAD |
|
|
rs1334479226 CA371655426 |
547 | S>T | No |
ClinGen gnomAD |
|
|
CA371655416 rs1358008479 |
548 | N>K | No |
ClinGen gnomAD |
|
|
rs778302563 CA4802690 |
558 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1810537449 RCV001284190 |
559 | E>D | No |
ClinVar dbSNP |
|
|
rs1278512307 CA371655208 |
579 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 580 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335640199 CA371655173 |
584 | E>G | No |
ClinGen gnomAD |
|
|
rs1563525021 CA371655135 |
590 | R>* | No |
ClinGen Ensembl |
|
|
CA371655113 rs146989944 |
593 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 600 | N>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218915019 CA371655053 |
602 | T>A | No |
ClinGen gnomAD |
|
|
rs112524180 CA181257606 |
603 | F>V | No |
ClinGen Ensembl |
|
|
rs1810522103 RCV001194318 |
605 | D>V | No |
ClinVar dbSNP |
|
|
rs773678006 CA4802681 |
609 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1320533210 CA371654992 |
611 | S>N | No |
ClinGen gnomAD |
|
|
CA371654975 rs1479338369 |
613 | K>R | No |
ClinGen TOPMed |
|
|
CA371677318 rs1377580273 |
617 | E>G | No |
ClinGen gnomAD |
|
|
CA371677282 rs1381148233 |
622 | K>R | No |
ClinGen gnomAD |
|
|
rs745559078 CA4802662 |
629 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1164780835 CA371677187 |
637 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 638 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371676785 rs1586040775 |
643 | L>F | No |
ClinGen Ensembl |
|
|
CA181274831 rs904204347 |
648 | E>K | No |
ClinGen Ensembl |
|
|
rs368703936 CA181274829 |
650 | L>F | No |
ClinGen ESP |
|
|
CA181274824 rs780360772 |
652 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA4802636 rs780360772 |
652 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 653 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780235686 | 654 | L>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 656 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057523508 CA371676468 |
666 | N>K | No |
ClinGen gnomAD |
|
|
rs587780091 CA4802633 |
667 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202198205 CA181274782 |
673 | S>A | No |
ClinGen 1000Genomes |
|
| TCGA novel | 678 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_064738 | 679 | Y>H | found in a renal cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA371676385 rs1425101720 |
680 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs768715280 RCV001293550 |
685 | F>V | No |
ClinVar dbSNP |
|
|
CA4802626 rs746764974 |
686 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs746135009 CA4802623 |
688 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 688 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4802622 rs779048193 |
690 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1038132485 CA181273325 |
697 | G>R | No |
ClinGen Ensembl |
|
|
CA371675742 rs1367898317 |
700 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs942302974 CA181273319 |
703 | I>V | No |
ClinGen Ensembl |
|
|
rs876661189 RCV000220883 |
704 | G>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 708 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753269019 CA4802602 |
709 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs753270166 COSM1132677 CA4802600 |
714 | R>L | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA16605422 RCV000437585 rs587780093 |
717 | T>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1217913746 CA371675405 |
718 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 724 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 727 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755536922 CA4802589 |
734 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs774508816 RCV000479191 |
737 | E>missing | No |
ClinVar dbSNP |
|
|
CA371674758 rs746479577 |
742 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA181268717 rs894189734 |
743 | L>I | No |
ClinGen Ensembl |
|
|
CA181268699 rs969171734 |
744 | F>L | No |
ClinGen Ensembl |
|
| rs1554554233 | 744 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199617209 CA371674702 |
749 | Y>H | No |
ClinGen TOPMed |
|
|
CA371674685 rs1301372320 |
751 | K>R | No |
ClinGen gnomAD |
|
|
rs773020664 CA4802560 |
753 | R>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 754 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
4 associated diseases with O60934
[MIM: 251260]: Nijmegen breakage syndrome (NBS)
A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies. {ECO:0000269|PubMed:9590180}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 114480]: Breast cancer (BC)
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269|PubMed:14684699}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 609135]: Aplastic anemia (AA)
A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia. {ECO:0000269|PubMed:15338273}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies. {ECO:0000269|PubMed:9590180}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269|PubMed:14684699}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia. {ECO:0000269|PubMed:15338273}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Functions
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| BRCA1-C complex | A protein complex that contains the BRCA1-BARD1 heterodimer, CtIP and Mre11/Rad50/NBS1 (M/R/N) complex, and binds to DNA at DNA damage sites. BRCA1-C binding ta damaged DNA is required for DNA damage-induced Chk1 phosphorylation and the G2/M transition checkpoint. |
| chromosomal region | Any subdivision of a chromosome along its length. |
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Mre11 complex | Trimeric protein complex that possesses endonuclease activity; involved in meiotic recombination, DNA repair and checkpoint signaling. In Saccharomyces cerevisiae, the complex comprises Mre11p, Rad50p, and Xrs2p; complexes identified in other species generally contain proteins orthologous to the Saccharomyces cerevisiae proteins. |
| nuclear inclusion body | An intranuclear focus at which aggregated proteins have been sequestered. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| PML body | A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection. |
| replication fork | The Y-shaped region of a replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| damaged DNA binding | Binding to damaged DNA. |
| DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| protein N-terminus binding | Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
26 GO annotations of biological process
| Name | Definition |
|---|---|
| blastocyst growth | An increase in size of a blastocyst due to expansion of the blastocoelic cavity cell shape changes and cell proliferation. |
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| DNA damage checkpoint signaling | A signal transduction process that contributes to a DNA damage checkpoint. |
| DNA damage response, signal transduction by p53 class mediator | A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage. |
| DNA double-strand break processing | The 5' to 3' exonucleolytic resection of the DNA at the site of the break to form a 3' single-strand DNA overhang. |
| DNA duplex unwinding | The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating a region of unpaired single strands. |
| DNA strand resection involved in replication fork processing | The 5' to 3' exonucleolytic resection of DNA at the site of a stalled replication fork that contributes to replication fork processing. |
| double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
| double-strand break repair via homologous recombination | The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule. |
| homologous recombination | A DNA recombination process that results in the exchange of an equal amount of genetic material between highly homologous DNA molecules. |
| intrinsic apoptotic signaling pathway | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP). |
| isotype switching | The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. |
| meiotic cell cycle | Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. |
| mitotic G2 DNA damage checkpoint signaling | A mitotic cell cycle checkpoint that detects and negatively regulates progression through the G2/M transition of the cell cycle in response to DNA damage. |
| mitotic G2/M transition checkpoint | A cell cycle checkpoint that detects and negatively regulates progression from G2 to M phase as part of a mitotic cell cycle. |
| negative regulation of telomere capping | Any process that stops, prevents or reduces the frequency, rate or extent of telomere capping. |
| neuromuscular process controlling balance | Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors. |
| positive regulation of kinase activity | Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| positive regulation of protein autophosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation by a protein of one or more of its own residues. |
| positive regulation of telomere maintenance | Any process that activates or increases the frequency, rate or extent of a process that affects and monitors the activity of telomeric proteins and the length of telomeric DNA. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of DNA-templated DNA replication initiation | Any process that modulates the frequency, rate or extent of initiation of DNA-dependent DNA replication; the process in which DNA becomes competent to replicate. In eukaryotes, replication competence is established in early G1 and lost during the ensuing S phase. |
| t-circle formation | A telomere maintenance process that results in the formation of a telomeric circle, or t-circle. A t-circle is an extrachromosomal duplex or single-stranded circular DNA molecule composed of t-arrays. T-circles are involved in the control of telomere length via alternative-lengthening of telomeres (ALT) pathway and telomere rapid deletion (TRD). |
| telomere maintenance | Any process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins, the length of telomeric DNA and the replication and repair of the DNA. These processes includes those that shorten, lengthen, replicate and repair the telomeric DNA sequences. |
| telomere maintenance via telomere trimming | A process that contributes to the maintenance of proper telomeric length and structure via the activation of telomere shortening pathways that compensate telomerase-dependent excessive telomere elongation. Telomere attrition is mediated by a mechanism which involves the generation of single-stranded C-rich telomeric DNA, and the formation and removal of double-stranded telomeric circular DNA (T-circles). Telomere trimming is an independent pathway to recombination-mediated telomere elongation and the well-documented gradual telomere attrition that accompanies cellular replication. |
| telomeric 3' overhang formation | The formation of the single stranded telomeric 3' overhang, a conserved feature that ranges in length from 12 nt in budding yeast to approximately 500 nt in humans. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWKLLPAAGP | AGGEPYRLLT | GVEYVVGRKN | CAILIENDQS | ISRNHAVLTA | NFSVTNLSQT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DEIPVLTLKD | NSKYGTFVNE | EKMQNGFSRT | LKSGDGITFG | VFGSKFRIEY | EPLVACSSCL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DVSGKTALNQ | AILQLGGFTV | NNWTEECTHL | VMVSVKVTIK | TICALICGRP | IVKPEYFTEF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LKAVESKKQP | PQIESFYPPL | DEPSIGSKNV | DLSGRQERKQ | IFKGKTFIFL | NAKQHKKLSS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AVVFGGGEAR | LITEENEEEH | NFFLAPGTCV | VDTGITNSQT | LIPDCQKKWI | QSIMDMLQRQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GLRPIPEAEI | GLAVIFMTTK | NYCDPQGHPS | TGLKTTTPGP | SLSQGVSVDE | KLMPSAPVNT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TTYVADTESE | QADTWDLSER | PKEIKVSKME | QKFRMLSQDA | PTVKESCKTS | SNNNSMVSNT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LAKMRIPNYQ | LSPTKLPSIN | KSKDRASQQQ | QTNSIRNYFQ | PSTKKRERDE | ENQEMSSCKS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ARIETSCSLL | EQTQPATPSL | WKNKEQHLSE | NEPVDTNSDN | NLFTDTDLKS | IVKNSASKSH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AAEKLRSNKK | REMDDVAIED | EVLEQLFKDT | KPELEIDVKV | QKQEEDVNVR | KRPRMDIETN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DTFSDEAVPE | SSKISQENEI | GKKRELKEDS | LWSAKEISNN | DKLQDDSEML | PKKLLLTEFR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SLVIKNSTSR | NPSGINDDYG | QLKNFKKFKK | VTYPGAGKLP | HIIGGSDLIA | HHARKNTELE |
| 730 | 740 | 750 | |||
| EWLRQEMEVQ | NQHAKEESLA | DDLFRYNPYL | KRRR |