P06400
PR
Gene name |
RB1 |
Protein name |
Retinoblastoma-associated protein |
Names |
p105-Rb, p110-RB1, pRb, Rb, pp110 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5925 |
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
16 structures for P06400
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1AD6 | X-ray | 230 A | A | 378-562 | PDB |
| 1GH6 | X-ray | 320 A | PDB | ||
| 1GUX | X-ray | 185 A | PDB | ||
| 1H25 | X-ray | 250 A | E | 868-878 | PDB |
| 1N4M | X-ray | 220 A | A/B | 380-785 | PDB |
| 1O9K | X-ray | 260 A | PDB | ||
| 1PJM | X-ray | 250 A | A | 858-881 | PDB |
| 2AZE | X-ray | 255 A | C | 829-874 | PDB |
| 2QDJ | X-ray | 200 A | A | 52-355 | PDB |
| 2R7G | X-ray | 167 A | A/C | 380-787 | PDB |
| 3N5U | X-ray | 320 A | C | 870-882 | PDB |
| 3POM | X-ray | 250 A | PDB | ||
| 4CRI | X-ray | 235 A | C/D | 802-817 | PDB |
| 4ELJ | X-ray | 270 A | A | 53-787 | PDB |
| 4ELL | X-ray | 198 A | A/B | 380-787 | PDB |
| AF-P06400-F1 | Predicted | AlphaFoldDB |
1189 variants for P06400
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001229314 rs1328198608 |
2 | P>T | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388250154 RCV001057690 rs1371181708 |
4 | K>R | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002393325 rs898303682 RCV001067348 |
5 | T>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002390624 rs1265159988 RCV000809422 CA388250161 |
5 | T>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs898303682 CA249842021 RCV000632954 |
5 | T>P | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000382603 RCV001085098 RCV002401991 rs886043138 CA10605156 |
6 | P>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000795397 RCV003222002 rs1131690852 RCV000492515 |
7 | R>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs564059250 CA249842023 RCV001207424 RCV002418695 |
7 | R>Q | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001317389 rs1952051803 |
9 | T>M | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952051803 RCV001351756 |
9 | T>R | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989105 rs1593411974 |
11 | A>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002325216 CA249842025 RCV000632957 rs899323337 TCGA novel |
11 | A>G | Variant assessed as Somatic; impact. Hereditary cancer-predisposing syndrome Retinoblastoma [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ClinVar Ensembl dbSNP |
|
CA026450 RCV000114708 rs587778852 |
11 | A>S | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000822727 CA388250195 rs1566174063 |
12 | T>A | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566174063 RCV001020458 RCV000703761 CA388250196 |
12 | T>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000704628 rs1566174065 |
13 | A>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064792974 RCV000462003 |
13 | A>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492677 rs1555279195 |
15 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693012 rs564137727 CA249842026 |
15 | A>G | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
rs572454921 RCV001297511 |
16 | A>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs572454921 RCV001354146 RCV000173106 RCV000492473 RCV000231673 |
16 | A>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000816353 rs1593412002 |
17 | A>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388250222 rs1566174092 RCV001294674 RCV002339719 |
17 | A>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388250226 RCV001023539 rs1593412070 RCV001862264 |
17 | A>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003160471 rs1173330253 RCV001058154 |
17 | A>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952052800 RCV001050997 |
18 | A>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs528218090 RCV000568995 RCV000226647 CA038529 |
18 | A>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000802787 CA388250228 rs528218090 |
18 | A>T | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000173107 RCV002345489 rs727504120 |
19 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952053203 RCV001231370 |
20 | P>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000477348 RCV000121915 CA026462 RCV000569325 rs587778637 |
20 | P>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1444353743 CA388250249 RCV000698668 RCV002360783 |
21 | P>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000013971 rs587776790 |
23 | P>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048894 rs1952053594 |
23 | P>Q | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036984 rs1349657979 |
23 | P>S | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220684 CA388250259 rs1349657979 |
23 | P>T | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000687725 rs1566174074 |
24 | P>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340818 rs1285455572 CA388250268 |
24 | P>L | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000553322 rs1555279212 |
25 | P>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388250274 rs1593412158 RCV001026505 RCV001862369 |
25 | P>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492663 RCV000697493 rs1555279210 |
26 | P>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs925399787 RCV002256701 RCV001213879 CA249842029 |
27 | P>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000632928 rs1555279223 RCV002413811 |
28 | P>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388250287 RCV003117490 rs776175164 RCV002440436 RCV000688608 |
28 | P>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002551967 RCV001026508 rs587778823 |
28 | P>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1276653645 RCV000704145 |
28 | P>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA039558 RCV000470650 rs776175164 RCV001017708 |
28 | P>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002374984 CA249842031 rs938094455 RCV001068419 |
29 | P>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000565292 rs587778823 RCV000820387 |
29 | P>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564121 rs587778823 RCV000474548 |
29 | P>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388250297 RCV001018600 RCV000799491 rs1482284498 |
30 | E>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000567305 rs1555279228 RCV001231699 CA388250295 |
30 | E>Q | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000722027 rs1566174147 |
32 | D>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1593412219 RCV001347499 |
32 | D>H | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002370065 CA388250310 RCV000791727 rs1593412219 RCV001090332 |
32 | D>N | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000693443 rs1201977804 CA388250323 |
33 | P>L | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001305982 CA388250321 rs1201977804 |
33 | P>R | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001048241 rs1952054473 |
34 | E>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000114710 CA026359 rs587778869 |
35 | Q>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1480581747 RCV001017125 RCV000699680 CA388250336 |
35 | Q>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1131690913 RCV000492357 |
36 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001017194 CA027539 rs745822791 RCV000526693 |
36 | D>N | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001017289 rs896487590 CA249842033 RCV000632948 |
37 | S>G | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs896487590 RCV000632929 RCV002448948 CA388250346 |
37 | S>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000114711 rs886037649 |
38 | G>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989106 RCV000567067 CA027677 rs766529534 |
38 | G>D | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001010099 RCV000632939 rs1180053508 CA388250363 |
39 | P>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1593412261 RCV001010236 |
40 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1593412262 RCV000810985 RCV002336667 CA388250364 |
40 | E>K | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001308227 rs775161380 |
41 | D>N | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002402424 RCV001058904 rs1312883856 |
42 | L>M | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel rs1593412272 RCV001296049 |
42 | L>P | Variant assessed as Somatic; impact. Retinoblastoma [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1593412272 RCV000796882 CA388250381 |
42 | L>Q | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1312883856 CA388250380 RCV000989107 |
42 | L>V | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA388250389 rs1555279239 RCV000569605 |
43 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809007 RCV002381794 rs1345893304 CA388250390 |
44 | L>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001036270 rs1952088853 |
47 | L>F | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388250448 RCV001011950 rs1330924197 RCV002551753 |
50 | E>D | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000461996 CA16614037 RCV002393152 rs1060503085 |
50 | E>Q | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001011986 rs756860689 RCV002549355 CA029080 |
51 | E>D | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA029086 RCV000688857 rs780588550 RCV001012161 |
52 | T>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780588550 RCV001343400 |
52 | T>R | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952089186 RCV001204303 |
54 | E>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952089249 RCV001043064 |
54 | E>G | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769618862 RCV001307163 |
55 | P>S | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001012876 CA388250499 rs1593414365 RCV001064651 |
58 | T>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632963 CA026400 rs138574644 RCV000121923 RCV003162556 |
58 | T>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs184754468 CA032482 RCV001203295 |
59 | A>P | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1593414375 RCV001012954 CA915948548 |
59 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000800503 rs1593414390 CA388250518 |
61 | C>Y | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1952089702 RCV001327638 |
66 | I>V | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001352329 rs1952089775 RCV002420767 |
67 | P>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952089852 RCV001212771 |
68 | D>G | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001349229 rs776591592 CA033894 |
69 | H>R | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA388250592 RCV001205611 rs1326990660 RCV002255627 |
71 | R>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_005572 | 72 | E>Q | RB [UniProt] | Yes | UniProt |
|
RCV000114737 rs587778840 |
73 | R>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000114738 RCV000492118 rs587778862 |
73 | R>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690854 RCV000492501 CA388250603 |
73 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA034844 RCV000550936 rs764472420 |
74 | A>G | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1952090208 RCV002431912 RCV001318907 |
74 | A>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000114739 rs587778824 |
77 | T>* | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1593414417 RCV001015232 CA388250635 |
78 | W>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002446828 RCV000472444 rs1060503090 CA16613996 |
79 | E>Q | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000456691 rs751870680 RCV001015371 CA035434 |
80 | K>E | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs755704180 RCV001039105 |
82 | S>* | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388250666 rs1593414429 RCV000799593 |
83 | S>F | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001061391 rs1952090656 |
85 | D>G | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952090786 RCV001228573 |
88 | L>F | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555279518 RCV000632930 CA388250698 |
88 | L>W | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001016265 CA036961 RCV001873275 rs371655281 |
89 | G>E | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001299909 rs1952455387 |
89 | G>R | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000763897 rs554727080 RCV000559096 CA037060 RCV002438313 |
90 | G>V | Bone osteosarcoma Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1593434175 RCV000816071 |
91 | Y>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388252324 RCV000786881 rs750136284 |
91 | Y>* | Lynch syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000867444 rs750850735 CA037370 RCV002427143 |
91 | Y>C | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000763898 RCV000537741 rs1555282772 CA388252332 |
92 | I>M | Bone osteosarcoma Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1477250 COSM1477249 RCV000492378 rs1131690915 CA388252335 |
93 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1131690862 RCV000492579 |
95 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388252351 RCV000632934 rs1555282775 |
95 | K>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1952455844 RCV001204113 |
99 | W>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000177038 RCV001386156 COSM1735721 RCV000492718 CA026447 rs794727481 |
99 | W>* | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. skin Retinoblastoma [Ensembl, ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000703743 rs1566186087 |
100 | G>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10639629 RCV000302815 rs886050268 RCV002436160 |
100 | G>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001236136 CA388252389 rs886050268 |
100 | G>V | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA388252391 rs1555282783 RCV001018070 RCV000632951 |
101 | I>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587778825 RCV000114701 |
102 | C>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018557 CA388252409 rs1593434231 |
103 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001240257 rs1952456105 |
104 | F>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018947 RCV001237092 rs1210328667 CA388252427 |
106 | A>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA249846141 RCV001303187 rs376408183 |
108 | V>A | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs1952456285 RCV001112472 |
111 | D>N | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388252465 rs1199831823 RCV001063389 |
112 | E>K | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000822166 RCV001020197 rs1593434250 CA388252479 |
113 | M>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001350780 RCV001020137 rs1593434246 CA388252475 |
113 | M>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632935 COSM1367144 rs139673557 CA249846142 RCV001020260 COSM1367143 |
114 | S>L | large_intestine Hereditary cancer-predisposing syndrome Retinoblastoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP TOPMed dbSNP gnomAD |
|
CA388252489 RCV000541400 rs1555282792 |
115 | F>L | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1429553692 RCV002451247 RCV001059400 RCV002482041 CA388252511 |
118 | T>S | Bone osteosarcoma Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1347755761 RCV002456070 CA388252518 RCV000551740 |
119 | E>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001339799 rs1301539544 CA388252536 |
122 | K>E | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs149800437 RCV001262454 RCV000525619 RCV000568188 COSM927 CA037735 |
123 | N>D | ovary Hereditary cancer-predisposing syndrome Neoplasm of ovary Retinoblastoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001020949 rs1566186125 RCV000722028 |
124 | I>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301503 RCV001020984 rs1593434342 CA388252556 |
124 | I>M | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020939 RCV000697537 rs769858139 CA037766 |
124 | I>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886042357 RCV000312051 RCV000725057 |
126 | I>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001231903 rs1131690843 |
127 | S>I | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1367152 COSM1367151 RCV000492187 RCV001591131 rs1131690843 CA388252575 |
127 | S>N | Retinoblastoma (rb1) large_intestine Hereditary cancer-predisposing syndrome [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1131690843 CA388252576 RCV000814584 RCV000492301 |
127 | S>T | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388252596 RCV000700453 rs1566186839 |
128 | V>A | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1593435676 CA388252604 RCV002363126 RCV000815320 |
129 | H>Q | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055489 rs1952480132 |
129 | H>Y | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566186840 RCV000690735 CA388252607 |
130 | K>* | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000800264 rs1593435682 CA388252610 RCV002360947 |
130 | K>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs749495284 RCV000309105 RCV002375357 CA038069 RCV001299885 |
131 | F>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
rs1593435687 CA388252617 RCV000801034 |
131 | F>S | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021530 rs762380973 RCV001035290 CA249846374 |
132 | F>Y | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs3092900 RCV000981682 CA249846375 VAR_051909 RCV002354884 |
133 | N>H | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1593435713 CA388252644 RCV001021751 |
135 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000427414 COSM1587107 rs121913296 RCV000114702 CA026454 COSM890 |
137 | E>* | eye Neoplasm Retinoblastoma (rb1) large_intestine Variant assessed as Somatic; impact. endometrium Retinoblastoma [Cosmic, ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
VAR_005573 RCV000989108 rs3092902 CA026455 RCV000034596 RCV000570544 |
137 | E>D | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma RB; unilateral form [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1952480749 RCV001041977 |
143 | K>T | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690912 RCV000492586 |
145 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587778841 RCV000114703 |
146 | N>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492616 rs1131690867 |
148 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002326809 rs587778870 RCV000114704 CA026458 |
149 | S>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Retinoblastoma [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002327320 rs587778870 CA038186 RCV001056115 |
149 | S>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587778854 RCV000114705 |
155 | Y>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1034616967 RCV001350275 RCV002341733 |
156 | D>H | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA249846378 RCV002339613 RCV001226438 rs1034616967 |
156 | D>Y | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000705554 CA891844331 rs1566186889 |
157 | V>* | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1952481401 RCV001257127 |
158 | L>* | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1319691084 RCV002334328 RCV000697025 CA388252801 |
158 | L>F | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001327710 RCV002329296 rs1952481513 |
159 | F>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001314959 rs1952481610 |
160 | A>V | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002505547 RCV001023161 CA038278 rs764881599 RCV001059649 |
162 | F>Y | Bone osteosarcoma Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000492150 CA388252855 rs1131690874 |
166 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1251503080 RCV001324507 |
169 | C>S | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1251503080 RCV002339344 RCV001068939 CA388156786 |
169 | C>Y | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000632933 rs1555283482 |
170 | E>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000114706 rs587778826 CA026460 |
170 | E>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001226489 RCV002339615 rs1952511717 |
172 | I>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1426744051 RCV001345274 |
174 | L>V | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035710 rs1952511865 |
176 | Q>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952511945 RCV001229698 |
177 | P>H | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000538419 CA388156840 RCV002350196 rs1357310270 |
177 | P>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1131690871 RCV000492454 |
179 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566187849 RCV001023986 CA388156857 RCV000697833 |
179 | S>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1629123 rs367654488 RCV000632972 CA038630 RCV002343228 COSM1629124 |
180 | S>L | Variant assessed as Somatic; 0.0 impact. liver Hereditary cancer-predisposing syndrome Retinoblastoma [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001351014 RCV002350658 rs781708508 |
181 | I>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002345801 CA388156891 RCV000803727 rs1593437952 |
183 | T>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001343521 rs1952522583 RCV003169651 |
183 | T>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690887 RCV000492370 |
184 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632958 RCV002343227 rs1220347917 CA388156901 |
184 | E>D | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_005574 | 185 | I>T | RB [UniProt] | Yes | UniProt |
|
RCV002350550 rs770277291 RCV001303376 |
187 | S>C | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001246900 CA038793 rs770277291 RCV001024323 |
187 | S>F | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001024341 RCV000692163 rs1189153218 CA388156923 |
188 | A>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1593437973 CA388156928 RCV001024353 |
188 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000476719 RCV003168838 rs1060503093 CA16613998 |
193 | V>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1952523027 RCV001224305 RCV002356953 |
193 | V>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952523113 RCV001297982 |
196 | I>V | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1421476380 RCV001072028 CA388156980 |
197 | T>A | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388156982 RCV000492266 rs1131690883 |
197 | T>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121913298 RCV000437633 CA16602773 COSM915 COSM317958 |
199 | L>* | lung Retinoblastoma (rb1) skin Retinoblastoma [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1555283670 CA658798141 RCV000626660 |
201 | A>D | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388157020 rs1012377281 RCV000709344 |
203 | G>R | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002358465 rs1012377281 RCV000531975 CA249269407 |
203 | G>W | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000989109 rs1593438023 |
204 | E>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989110 rs1593443469 |
204 | E>DFL | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770100636 RCV001024932 RCV000476876 CA039119 |
205 | V>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002366006 rs1952625286 RCV001223161 |
210 | D>E | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001079302 RCV000492290 rs148992508 RCV000034597 CA026464 RCV000601517 |
210 | D>Y | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002365719 RCV001057563 rs147085238 |
212 | L>M | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220343 rs1952625382 |
214 | I>V | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388158248 RCV000492073 COSM432451 COSM1477252 RCV000812389 COSM1477251 rs768305224 COSM13412 |
215 | S>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Retinoblastoma breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002368127 RCV001341831 rs768305224 CA039154 |
215 | S>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001025270 rs748923368 RCV001326894 CA039142 |
215 | S>P | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000989111 rs1593443514 |
217 | Q>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693455 rs1566191596 CA388158295 |
218 | L>V | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1952625561 RCV001201492 |
219 | M>K | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060902 rs1952625561 |
219 | M>T | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492621 rs1131690905 |
228 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001025740 rs766131342 CA039248 RCV000535072 |
229 | L>F | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1952625902 RCV001319434 |
230 | S>A | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1459523811 RCV000818155 CA388158506 RCV002363141 |
230 | S>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001342968 rs1952625956 |
231 | P>S | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1195873978 RCV000545275 CA388158529 RCV001025836 |
232 | P>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1952626050 RCV003169698 RCV001347440 |
233 | M>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000559948 RCV002367788 CA249273488 rs770860809 |
233 | M>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000492229 rs1131690878 |
234 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952626193 RCV001343280 |
236 | K>R | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492435 rs1131690904 CA388158618 |
237 | E>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001026182 CA388159225 rs1593445085 RCV001873406 |
241 | T>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1593445096 RCV000810383 |
243 | V>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952655034 RCV002384458 RCV001340167 |
243 | V>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492252 rs1131690890 |
244 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA039420 rs147754935 RCV001026275 RCV000533722 |
244 | I>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1952655166 RCV001222289 |
245 | P>S | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492562 rs1131690847 |
246 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001303031 rs1429451823 RCV002384365 CA388159280 |
247 | N>D | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001340667 rs1952655335 |
250 | P>R | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002393706 rs1566192505 RCV001298460 CA388159313 |
250 | P>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000548468 RCV000492399 COSM1367181 COSM878 CA388159319 rs1131690863 |
251 | R>* | lung eye oesophagus large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system skin Retinoblastoma [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM1367183 RCV000763899 RCV002388279 CA039463 rs772678500 COSM1367182 RCV000697570 |
251 | R>Q | Bone osteosarcoma Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001212235 rs1952655426 |
252 | T>S | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952655473 RCV001203986 |
253 | P>T | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA249274381 RCV001026628 RCV000699465 rs200674097 |
254 | R>K | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587778842 CA026466 RCV000114712 RCV000790825 RCV000492345 COSM943 |
255 | R>* | eye Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Retinoblastoma [Cosmic, Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM1562226 RCV001862376 RCV001026664 CA388159358 COSM1562227 rs746954896 |
255 | R>Q | large_intestine Hereditary cancer-predisposing syndrome Retinoblastoma breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000697565 rs1232080974 COSM363247 RCV001026741 CA388159375 |
257 | Q>R | lung Hereditary cancer-predisposing syndrome Retinoblastoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1566192530 RCV002397438 RCV000699397 |
258 | N>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1342634687 RCV001062828 CA388159411 |
260 | S>T | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA039490 RCV000704004 rs776307088 |
261 | A>V | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003160326 CA039524 COSM1367191 rs752342013 COSM1367190 RCV001044586 |
262 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Retinoblastoma [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs556201144 RCV000466550 RCV002411502 CA16614007 |
262 | R>W | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587778827 RCV000114713 |
265 | K>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566192557 RCV000684936 |
267 | L>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388159480 rs1593445172 RCV000817113 |
267 | L>V | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA249274436 rs922948338 RCV002420375 RCV000538040 |
269 | N>K | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002416366 CA388159537 RCV001045195 rs1191072088 |
271 | T>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA388159539 rs1555284945 RCV000566921 |
272 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492405 rs1131690849 |
282 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1593445220 CA915948647 RCV000793959 |
283 | C>* | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001062650 rs1273219762 CA388159672 |
283 | C>Y | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000763900 CA039582 RCV000541240 rs761609284 RCV001017932 |
284 | N>D | Bone osteosarcoma Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1593445228 RCV002442647 CA388159691 RCV000798763 COSM1152652 COSM947789 |
285 | I>V | Hereditary cancer-predisposing syndrome endometrium Retinoblastoma [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1131690864 RCV000492155 RCV000684899 CA388159708 |
286 | D>G | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1593445246 RCV000806858 RCV002264985 CA388159717 |
287 | E>* | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000555963 rs1555284956 CA388159722 |
287 | E>D | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001314108 rs1952657220 |
287 | E>G | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555285117 CA388159825 RCV000632927 |
288 | V>M | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001054663 RCV000569991 CA388159845 rs1555285126 |
289 | K>N | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000699793 RCV000492694 rs1131690901 |
290 | N>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775381228 RCV001227129 CA039759 |
293 | F>L | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA388159899 RCV002442627 rs1453047397 RCV000794865 |
294 | K>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587778828 RCV000114714 |
295 | N>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001315290 RCV002375401 rs1952680086 |
297 | I>M | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1593446608 RCV000792703 CA388159939 |
297 | I>T | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772362181 RCV000812372 CA039787 RCV002370189 |
299 | F>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060503086 CA16614038 RCV000471474 RCV002374802 |
300 | M>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1060503086 CA388159963 RCV000700289 |
300 | M>V | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001018735 rs1208736713 CA388159997 RCV002549484 |
302 | S>F | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000525153 CA388159994 rs1208736713 RCV001018731 |
302 | S>Y | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA249275372 rs900955797 RCV001220023 |
303 | L>P | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388160003 rs900955797 RCV001069558 RCV001018825 |
303 | L>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA026468 RCV000989112 RCV001719890 RCV000121926 rs183898408 RCV000492127 |
307 | T>I | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002447196 RCV001239767 rs1952680701 |
309 | N>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200844292 RCV000730555 RCV000456021 CA039832 VAR_010045 RCV000232627 RCV000563177 COSM327253 |
310 | G>E | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Retinoblastoma RB; unknown pathological significance [Ensembl, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA026469 rs587778843 RCV000114715 |
313 | E>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000866271 rs780006952 CA040028 RCV002510994 RCV002442821 |
314 | V>D | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1566194312 RCV000709345 CA388160567 |
314 | V>F | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566194323 RCV000686416 |
318 | S>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886050271 RCV000274995 CA10643558 |
318 | S>C | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000114716 COSM1152653 RCV001558107 COSM891 RCV000492534 rs121913300 CA026470 |
320 | R>* | eye Retinoblastoma (rb1) ovary large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium Retinoblastoma [Cosmic, Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002375336 RCV001294162 rs1952715820 |
320 | R>* | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA040068 RCV000812789 RCV002381810 rs121913300 |
320 | R>G | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000700340 CA388160631 COSM1367193 COSM1367192 RCV002369921 rs760787104 |
320 | R>L | large_intestine Hereditary cancer-predisposing syndrome Retinoblastoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000572744 CA040077 RCV001046752 rs760787104 |
320 | R>Q | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1367197 COSM1367196 CA388160640 RCV001019577 RCV000699731 rs1566194338 |
321 | Y>C | large_intestine Hereditary cancer-predisposing syndrome Retinoblastoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA388160650 COSM317951 RCV000492263 rs776534331 |
322 | E>* | lung Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs142620145 CA040114 RCV001044302 RCV003160322 |
322 | E>G | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1367201 RCV002372754 RCV001037332 COSM1367200 CA040100 rs776534331 |
322 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Retinoblastoma [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
COSM1367202 COSM938 rs1060503077 RCV000471380 CA16614439 |
323 | E>* | eye Retinoblastoma (rb1) large_intestine Variant assessed as Somatic; impact. prostate Retinoblastoma [Cosmic, Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1566194351 RCV000699780 RCV001019734 CA388160690 |
326 | L>F | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306965 RCV002384377 rs1952716275 |
328 | N>K | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227594 rs878853952 |
328 | N>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000786933 rs1593448449 |
334 | R>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1161993720 RCV001338894 CA388160830 |
339 | H>Q | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000705482 CA388160827 rs1566194383 |
339 | H>R | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000114717 rs587778855 CA026357 |
341 | K>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001312830 CA388160857 RCV002447323 rs1393042716 |
341 | K>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000114718 RCV000492203 rs587778844 |
342 | T>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001269244 rs751263356 CA027361 RCV000693501 RCV002386205 |
342 | T>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000492602 rs1131690873 |
343 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566194400 CA388160894 RCV000709346 |
344 | Q>R | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555285429 CA256704 RCV000013956 |
345 | T>K | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388160924 RCV000797773 rs1566194403 RCV002388454 |
346 | D>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388160948 rs1295421967 RCV002397449 RCV000700816 |
348 | I>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001066074 rs1952726441 |
351 | F>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952726482 RCV001211166 |
352 | E>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587778829 RCV000114720 RCV000492557 |
354 | Q>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492316 rs1131690861 |
355 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000815778 rs774525913 CA027515 |
356 | T>I | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000492572 rs1131690872 |
358 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA026363 RCV000725187 COSM879 rs121913301 RCV000013951 RCV000492492 |
358 | R>* | eye Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Retinoblastoma [Cosmic, Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_010046 | 358 | R>G | RB [UniProt] | Yes | UniProt |
|
CA027547 COSM1367209 rs767011440 RCV002418415 RCV000469444 COSM1367210 VAR_005575 |
358 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Retinoblastoma RB [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
CA388161174 RCV001009861 rs1593449010 |
360 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000699895 rs976503237 CA388161199 RCV003163242 |
361 | N>K | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1952727001 RCV003169590 RCV001338265 |
362 | L>F | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA027567 RCV000694026 rs750094760 RCV002458244 |
365 | E>D | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA388161245 RCV000811611 rs1270702085 |
365 | E>K | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA388161247 RCV000632962 RCV002448949 rs1270702085 |
365 | E>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Retinoblastoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA388161312 RCV000541581 RCV002431548 rs1168863456 |
370 | P>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1952727399 RCV002249815 RCV001228386 |
371 | P>S | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001316528 rs1015497370 |
372 | H>L | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952727463 RCV001231641 |
373 | T>S | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002438746 RCV001325823 rs1952727557 |
375 | V>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952727580 RCV001308672 |
376 | R>G | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952727608 RCV001339020 |
376 | R>K | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001051798 CA249278758 rs908738769 RCV002320287 |
376 | R>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000575152 CA027663 RCV000989115 RCV001557297 rs146897002 |
377 | T>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1470523018 RCV002325217 RCV000632965 CA388161451 |
380 | N>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002451448 RCV001208378 CA388161462 rs1286489738 |
382 | I>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587778830 RCV000114722 |
383 | Q>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690846 RCV000492255 CA388161469 |
383 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000226485 rs878853947 CA10583158 |
385 | L>* | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs564780653 CA027706 RCV000989116 RCV000570461 |
386 | M>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000532803 CA027719 RCV002358464 rs190689977 |
387 | M>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs767908749 RCV001234074 CA027727 |
387 | M>T | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA388161499 RCV002358463 rs190689977 RCV000554391 |
387 | M>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000823567 RCV003128716 rs373623059 RCV002319924 CA027748 COSM35887 |
388 | I>S | Hereditary cancer-predisposing syndrome Retinoblastoma breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs373623059 COSM1367213 COSM1367214 CA388161509 RCV000701961 |
388 | I>T | large_intestine Retinoblastoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001315873 rs1375214454 |
388 | I>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM911 CA026365 RCV000114723 rs587778845 |
389 | L>* | eye Variant assessed as Somatic; impact. Retinoblastoma [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001010134 CA027764 RCV002506302 RCV000543132 rs181988132 |
392 | A>T | Bone osteosarcoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA027779 RCV000492333 RCV000691694 rs753350745 |
394 | D>N | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1566196458 RCV000697663 CA388161580 COSM1559414 COSM936 |
395 | Q>* | eye lung Variant assessed as Somatic; impact. central_nervous_system Retinoblastoma [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001850106 RCV000174238 rs727504121 |
398 | E>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388161643 RCV001010249 rs535576919 RCV002307568 RCV000632945 |
400 | L>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1462238834 RCV000796634 CA388161948 RCV002360926 |
408 | T>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1952830946 RCV001206402 RCV002365932 |
409 | V>M | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492277 rs1131690897 |
410 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952831003 RCV001230002 RCV002366030 |
410 | N>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555286220 RCV000632938 |
414 | S>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305564 rs1952831176 |
414 | S>N | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA249280048 rs974956317 RCV001043640 RCV001010519 |
414 | S>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA388161992 RCV000697691 rs1346693507 |
415 | I>V | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1131690889 RCV000492660 |
418 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002418926 rs1952831579 RCV001305506 |
418 | R>K | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952831606 RCV001038726 |
420 | K>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000480107 CA028058 RCV001010666 rs748635133 RCV000531874 |
423 | G>E | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001061444 rs1952831740 |
427 | K>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555286236 RCV000539506 |
427 | K>* | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952831856 RCV001065656 |
428 | E>G | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802344 rs965729205 CA249280056 |
431 | A>T | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388162113 RCV000722030 rs1566197747 |
432 | K>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702115 rs1166566395 CA388162119 RCV002386253 |
433 | A>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs4151534 RCV000492701 CA028112 RCV000229330 VAR_019379 |
436 | Q>K | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1952832267 RCV001295165 |
438 | C>F | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002379771 rs1952832267 RCV001203708 |
438 | C>Y | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1367223 RCV000492148 rs1060503078 RCV000466200 COSM254913 CA16614305 |
440 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome urinary_tract endometrium Retinoblastoma [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1131690875 RCV000492415 |
441 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000691816 RCV001766483 CA388162181 RCV001011037 rs1370947947 |
442 | G>A | Malignant tumor of urinary bladder Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16614041 RCV000471628 COSM1514096 COSM1514095 rs1060503079 RCV000492335 |
443 | S>* | lung Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Retinoblastoma [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA388162194 rs1555286250 COSM932 RCV000632946 |
444 | Q>H | lung soft_tissue Retinoblastoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1593454115 RCV000820318 |
445 | R>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002496351 rs3092891 RCV000492544 CA026371 RCV002508188 RCV000013946 COSM880 COSM1367224 |
445 | R>* | eye Retinoblastoma (rb1) Bone osteosarcoma Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome central_nervous_system Retinoblastoma [Cosmic, Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001236052 RCV002379900 rs747509282 CA028247 |
445 | R>Q | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001011110 CA388162540 rs1593455621 RCV001788396 RCV001811622 |
446 | Y>* | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001047936 rs1948513840 |
446 | Y>H | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_010048 | 447 | K>Q | RB [UniProt] | Yes | UniProt |
|
COSM326322 CA388162556 rs1131690851 RCV000492212 RCV000698759 |
449 | G>R | lung Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Retinoblastoma [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs587778847 CA026372 RCV000114728 |
449 | G>V | Variant assessed as Somatic; impact. Retinoblastoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001053080 rs1948513922 |
450 | V>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA028280 RCV000697674 RCV002386221 rs759079385 COSM1147221 COSM176711 |
451 | R>C | lung large_intestine Hereditary cancer-predisposing syndrome Retinoblastoma Variant assessed as Somatic; 4.629e-05 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM947793 RCV001011087 rs1312442837 CA388162569 RCV000695279 COSM1587099 |
451 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Retinoblastoma [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002386237 RCV000699994 CA388162577 rs201285819 |
452 | L>F | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000486601 RCV003156072 COSM1367229 CA026373 COSM895 RCV000114729 rs121913302 RCV000492246 |
455 | R>* | eye Retinoblastoma (rb1) liver large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. skin Retinoblastoma breast [Cosmic, Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000492725 CA388162596 rs769425649 |
455 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA028293 RCV000699837 RCV002386234 rs769425649 |
455 | R>Q | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002379562 RCV001054844 rs1948514269 |
457 | M>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_005576 | 457 | M>R | RB [UniProt] | Yes | UniProt |
|
rs1131690884 CA388162615 RCV000492526 |
458 | E>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1948514334 RCV001066968 |
458 | E>A | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388162625 rs1593455667 RCV000822868 RCV001011230 RCV002487851 |
459 | S>F | Bone osteosarcoma Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001235023 rs1948514475 |
460 | M>I | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002386391 rs1258210045 RCV000794747 CA388162628 |
460 | M>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001226539 rs1948519774 |
465 | E>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM866 RCV000078633 RCV000114730 CA026376 COSM1587098 RCV000492734 rs398123331 |
467 | R>* | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium bone Retinoblastoma [Ensembl, ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA388162691 RCV000709347 rs398123331 |
467 | R>G | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1948519905 RCV001225314 |
467 | R>Q | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000587932 rs1555286570 |
469 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700965 rs1243796201 RCV002388310 CA388162707 |
469 | S>F | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001345146 RCV002395757 rs1243796201 CA388162705 |
469 | S>Y | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000808070 rs139960834 CA028629 |
470 | I>L | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002255534 RCV000812984 rs578226820 CA249281342 |
470 | I>M | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA388162715 RCV000589929 COSM29529 rs1354030520 |
471 | Q>* | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome skin [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002393223 RCV001045257 rs1948520103 |
471 | Q>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555286573 RCV001237743 RCV000586996 |
473 | F>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388162742 RCV000589809 rs1555286575 |
474 | S>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1593456261 RCV001048082 |
475 | K>R | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388162760 RCV001011522 rs1593456261 |
475 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587776788 RCV000492635 RCV000013967 |
480 | N>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555286598 CA388162795 RCV000632926 |
480 | N>S | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_005577 | 480 | N>del | RB; mild form [UniProt] | Yes | UniProt |
|
rs1948522676 RCV001231196 |
481 | I>M | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699038 rs1566199059 |
482 | F>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492573 rs1131690910 |
483 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002393296 rs1948522792 RCV001060697 |
484 | M>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002393714 RCV001301473 rs1948522862 |
484 | M>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1948522929 RCV001050879 |
485 | S>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1431881254 CA388162835 RCV000798932 |
485 | S>C | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1948522903 RCV001053356 |
485 | S>P | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587778832 RCV000114731 |
486 | L>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000535718 rs1555286611 |
486 | L>F | Variant assessed as Somatic; impact. Retinoblastoma [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
COSM1587097 RCV000550618 CA028837 COSM254915 RCV002395309 rs780248969 |
488 | A>V | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome urinary_tract endometrium Retinoblastoma [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001312801 rs1948523129 |
489 | C>G | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388162860 RCV001042740 RCV000492634 rs1131690877 |
489 | C>Y | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001210843 CA028880 RCV002393480 rs201458896 COSM1607123 COSM1607124 |
490 | A>S | Retinoblastoma (rb1) liver Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA028873 RCV000462974 RCV003153636 rs201458896 RCV001753905 RCV001011725 |
490 | A>T | Retinoblastoma (rb1) Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Retinoblastoma Ovarian cancer [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
CA388162872 RCV000695948 rs587778848 RCV003163199 |
491 | L>H | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA026379 RCV000114732 RCV000273920 rs587778848 |
491 | L>P | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614015 RCV000492129 RCV000460404 rs1060503084 |
492 | E>K | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000687998 CA388162902 RCV002388212 rs1366675428 |
496 | A>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000529022 rs776531398 CA028922 |
497 | T>A | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003163649 RCV001215038 rs1948523564 |
498 | Y>C | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050300 RCV002393246 CA028947 RCV002286805 rs774706300 |
499 | S>N | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_011580 | 500 | R>G | RB [UniProt] | Yes | UniProt |
|
rs1593456939 CA388163256 RCV000804792 |
500 | R>I | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131690856 RCV000492261 |
501 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002395310 rs752334972 CA029053 RCV000541847 |
502 | T>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886043247 RCV001855163 CA10605288 RCV000387387 |
504 | Q>* | Variant assessed as Somatic; impact. Retinoblastoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1593456963 RCV000809364 |
505 | N>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1948533141 RCV002393535 RCV001221890 |
505 | N>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1204086259 CA388163359 RCV001012004 |
508 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA388163370 rs1555286684 RCV000552265 |
509 | G>A | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1948533324 RCV002402907 RCV001324313 |
511 | D>G | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860689 RCV001012041 CA388163383 rs145729675 |
511 | D>H | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs866664638 RCV001236727 RCV002402742 |
515 | P>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209058 rs138201027 |
516 | W>R | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000526136 rs1555286687 CA388163457 |
516 | W>S | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067330 rs1948533760 |
523 | L>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs4151539 RCV000492469 CA388163580 |
525 | A>D | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA026381 rs4151539 VAR_019380 RCV000121918 RCV000492428 RCV000203079 RCV001719889 |
525 | A>G | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs587778640 RCV000121919 RCV003153399 CA026380 RCV002399489 RCV000701091 |
525 | A>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.627e-05 impact. Retinoblastoma Ovarian cancer [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs4151539 RCV001215865 |
525 | A>V | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492541 rs1131690876 |
526 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1948533963 RCV001053360 |
529 | Y>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340617 VAR_010049 rs1948534047 |
530 | K>R | Retinoblastoma RB [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000689035 rs1566199571 CA388163680 |
532 | I>N | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012357 rs1237070816 CA388163692 |
533 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1948534275 RCV001039706 |
536 | I>M | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1948534262 RCV001339751 |
536 | I>V | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000571118 rs371031574 RCV000632952 CA029151 |
539 | E>D | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA029168 RCV001012454 rs769696726 RCV000541001 |
540 | G>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA388163807 RCV002397604 rs1593457065 RCV000799793 |
542 | L>* | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs143948310 CA029212 RCV001241709 |
544 | R>S | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000632942 rs1555286695 |
545 | E>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000793292 rs1593457070 RCV002535890 |
545 | E>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001257128 rs1948534542 RCV002402800 |
545 | E>* | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1050717570 RCV001012517 CA388163898 |
549 | H>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1050717570 CA388163896 RCV000800448 |
549 | H>N | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1050717570 CA249281991 VAR_005578 |
549 | H>Y | RB [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
CA249281995 RCV001012575 rs147534828 |
551 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121913303 RCV000114733 COSM887 CA026383 RCV000492730 COSM1300225 |
552 | R>* | eye Retinoblastoma (rb1) liver Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. urinary_tract Retinoblastoma breast [Cosmic, Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002258081 rs146236493 CA249282003 RCV000983840 |
552 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Retinoblastoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP NCI-TCGA dbSNP gnomAD |
|
RCV000816000 rs1593457108 CA388163957 |
553 | C>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001209434 rs1948534757 |
553 | C>S | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388163981 RCV000552483 RCV002395311 rs1555286700 |
555 | H>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000430238 COSM888 rs121913304 CA026386 RCV000114734 RCV000013966 RCV000492084 COSM1367249 |
556 | R>* | eye Neoplasm Retinoblastoma (rb1) Trilateral retinoblastoma large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system Retinoblastoma [Cosmic, ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002397570 COSM1367251 RCV000792877 rs773116120 COSM1367250 CA029288 |
556 | R>Q | large_intestine Hereditary cancer-predisposing syndrome Retinoblastoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA388164012 rs1419550675 RCV000530909 |
558 | M>L | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555286707 RCV000456907 |
559 | E>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690869 RCV000492749 CA388164029 |
559 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000807102 CA388164038 rs1593457138 |
560 | S>P | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA029297 rs761257231 RCV001220561 RCV003163697 |
561 | L>F | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001305303 rs1948535194 |
562 | A>V | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814656 rs1593457156 |
563 | W>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1367257 COSM1367256 COSM48894 rs587778863 RCV000114735 CA026388 |
563 | W>* | lung large_intestine Retinoblastoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs137853292 COSM1300229 COSM1300228 RCV000013947 VAR_005579 CA026396 |
567 | S>L | Retinoblastoma (rb1) Variant assessed as Somatic; impact. urinary_tract Retinoblastoma RB [Ensembl, NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs1131690842 RCV000492517 RCV000722018 |
569 | L>missing | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs3092895 VAR_051910 RCV001071312 CA249305414 |
569 | L>F | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001012844 RCV001205411 CA388165474 rs1593529910 |
574 | K>E | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388165479 rs1171421079 RCV001012853 |
574 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587778864 CA026397 COSM1322860 RCV000114676 COSM1322861 |
575 | Q>* | Retinoblastoma (rb1) ovary Variant assessed as Somatic; impact. Retinoblastoma [Ensembl, Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001321020 RCV001043649 rs1949337837 |
577 | K>N | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA026398 COSM1756816 RCV000114677 RCV000492238 RCV000521112 rs121913305 COSM892 |
579 | R>* | eye lung Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. urinary_tract Retinoblastoma [Cosmic, Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001012950 RCV000477144 rs751560923 CA032389 |
579 | R>Q | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587778858 CA026399 COSM1579286 RCV000114678 COSM1579285 |
580 | E>* | NS Variant assessed as Somatic; impact. Retinoblastoma [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001012919 rs375645171 CA249305436 RCV001054750 |
581 | G>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA032429 RCV001299389 rs757198343 |
582 | P>R | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1343212063 RCV002400325 COSM1152657 COSM947798 CA388165533 RCV001057017 |
584 | D>Y | Hereditary cancer-predisposing syndrome endometrium Retinoblastoma [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000700788 rs1401332173 CA388165540 |
585 | H>D | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1401332173 RCV002411788 CA388165541 RCV002249802 RCV001213634 |
585 | H>Y | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000013957 rs587776784 |
587 | E>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555293637 CA388165566 RCV001013074 RCV000556068 |
588 | S>F | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs779045727 RCV002402288 RCV000457051 CA16614018 |
589 | A>G | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001227388 rs1949338354 |
589 | A>T | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA032509 rs779045727 RCV001067783 RCV002402461 |
589 | A>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001322482 rs1949338458 |
590 | C>F | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614059 rs1060503089 RCV000458679 RCV002402289 |
590 | C>G | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1949338513 RCV001257130 |
591 | P>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002406568 rs1221157259 RCV000692294 CA388165583 |
591 | P>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000792481 RCV002256502 CA249305466 rs138033832 |
593 | N>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA388165616 RCV000706340 COSM1731706 rs1566233076 COSM1731707 |
597 | Q>* | NS skin Retinoblastoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1949338800 RCV001221786 |
597 | Q>R | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690893 RCV000492235 |
604 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001039086 rs1949339014 |
604 | D>G | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1472724809 RCV000804246 CA388165686 RCV002406789 |
605 | M>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA388165673 rs1555293654 RCV002413464 RCV000529955 |
605 | M>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137853297 COSM1477260 RCV000013970 COSM1651764 RCV002408459 CA026402 COSM432456 |
606 | Y>* | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome soft_tissue Retinoblastoma breast [Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001064536 rs934931283 CA249306654 RCV001013338 |
610 | V>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA032771 RCV001351287 rs762613976 |
610 | V>L | Retinoblastoma [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
RCV001301159 rs1949358874 |
613 | P>L | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555293835 RCV000632949 CA388165732 |
613 | P>S | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388165746 RCV000809338 rs1334513810 RCV001013374 |
615 | K>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_011581 | 616 | K>E | RB [UniProt] | Yes | UniProt |
|
RCV001205068 CA388165778 rs554834063 |
620 | T>K | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001013423 RCV000632964 CA032831 rs554834063 |
620 | T>M | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Retinoblastoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1367279 RCV000460516 RCV001821287 CA032901 RCV000565788 COSM1367280 rs367578442 |
621 | R>C | Retinoblastoma (rb1) large_intestine Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002408954 CA032891 RCV000231374 rs367578442 |
621 | R>G | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000121922 RCV001013435 CA026404 rs373601944 RCV001083762 |
621 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Retinoblastoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1046 COSM1740016 RCV000121920 rs367578442 RCV000457901 RCV001570931 RCV000572000 CA026403 |
621 | R>S | pituitary Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Retinoblastoma [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002409106 rs747147942 RCV000874888 CA032954 |
626 | A>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000802384 rs1329826610 CA388165983 |
628 | A>V | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA032967 RCV000465473 rs367668687 RCV001013560 |
629 | E>D | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1593532012 RCV000815802 CA388166011 |
630 | T>I | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003117734 RCV001066595 rs1217977493 |
631 | Q>* | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388166021 RCV001860744 RCV001013591 rs1593532019 |
631 | Q>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002411895 rs1949359489 RCV001242805 |
632 | A>E | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632941 rs587778641 RCV000121921 CA026405 RCV001013545 |
633 | T>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1949359603 RCV001290128 |
634 | S>* | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388166073 rs1593532038 RCV000799493 |
635 | A>G | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_005580 | 635 | A>P | RB [UniProt] | Yes | UniProt |
|
RCV001298563 rs1949359622 |
635 | A>S | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000128457 rs587781257 |
636 | F>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1162723 COSM1162722 RCV000114680 rs587778833 CA026407 |
637 | Q>* | pancreas Variant assessed as Somatic; impact. Retinoblastoma [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001219872 rs1949359779 |
639 | Q>* | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002409365 rs775880919 RCV001036357 CA033033 |
639 | Q>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001209871 rs1949359821 |
640 | K>T | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA026408 rs587778865 RCV000114681 |
642 | L>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1949359922 RCV001051627 |
642 | L>V | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000114682 rs587778866 CA026409 |
643 | K>E | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1593532084 RCV000803123 |
650 | F>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000013958 rs587776785 CA026410 |
650 | F>* | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697676 rs1566234123 |
654 | V>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002422584 CA033353 RCV000703311 rs769113950 |
654 | V>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001257131 VAR_005581 rs769113950 |
654 | V>E | Retinoblastoma RB [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
CA16614062 rs483352690 RCV000466407 COSM35800 RCV001013858 COSM2150876 |
654 | V>L | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system Retinoblastoma [Ensembl, ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA026413 RCV001854505 COSM1135502 rs483352690 RCV000087166 COSM225014 |
654 | V>M | Retinoblastoma (rb1) kidney Variant assessed as Somatic; impact. skin Retinoblastoma [Ensembl, Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001257132 rs774196937 |
655 | Y>C | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA033367 RCV001343293 rs774196937 |
655 | Y>F | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001013867 RCV000476165 rs202031219 CA033414 |
656 | R>Q | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000034595 RCV003153323 rs142509759 RCV001762099 RCV001085189 CA026415 RCV000566730 RCV002281727 |
656 | R>W | Retinoblastoma (rb1) Malignant tumor of urinary bladder Hereditary cancer-predisposing syndrome Retinoblastoma Ovarian cancer [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_010050 | 657 | L>P | RB [UniProt] | Yes | UniProt |
|
CA026416 rs587778834 RCV000114685 |
658 | A>D | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001230746 rs751799266 CA033544 |
659 | Y>C | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1593534586 RCV000807700 |
660 | L>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750578651 CA033613 RCV001013947 RCV001063089 |
661 | R>Q | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000013962 COSM1367287 COSM861 RCV000763335 RCV000790652 RCV000510137 CA026417 VAR_005582 RCV000492717 rs137853294 |
661 | R>W | Retinoblastoma (rb1) Bone osteosarcoma Variant assessed as Somatic; 0.0 impact. oesophagus pancreas large_intestine Hereditary cancer-predisposing syndrome urinary_tract central_nervous_system Vulvar adenocarcinoma of mammary gland type Retinoblastoma RB; mild form [Ensembl, ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
| VAR_005583 | 662 | L>P | RB [UniProt] | Yes | UniProt |
|
rs1007286459 RCV000692624 RCV002422501 CA249308126 |
663 | N>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002418827 RCV001241114 rs749739772 |
664 | T>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000087167 COSM326321 RCV001854506 CA026418 rs483352689 |
665 | L>R | lung Retinoblastoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA388166731 RCV002418904 rs1160394123 RCV001299736 |
666 | C>F | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001112571 RCV003163262 rs1949383921 |
666 | C>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000793991 rs369755801 RCV002422691 CA033725 |
668 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Retinoblastoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001014061 rs551747882 RCV000397474 CA033741 |
668 | R>H | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001316503 CA388166741 rs369755801 RCV001014055 |
668 | R>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001207217 rs1949384058 |
669 | L>P | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492076 rs1131690885 |
672 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388166764 RCV000492423 rs1131690903 |
672 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_005584 | 673 | H>P | RB [UniProt] | Yes | UniProt |
|
rs1949384169 RCV001210539 |
673 | H>Q | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1949384188 RCV001351577 |
674 | P>S | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000013963 CA249308167 rs137853295 COSM1731418 COSM1731417 |
675 | E>* | Retinoblastoma (rb1) liver Variant assessed as Somatic; impact. Retinoblastoma [Ensembl, Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1566235448 RCV001064630 RCV002509605 |
676 | L>* | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566235448 CA388166793 RCV000709348 |
676 | L>S | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614022 RCV000470261 rs1060503067 |
677 | E>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1949384321 RCV001322389 |
677 | E>G | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503067 RCV001113911 |
677 | E>K | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388166808 rs201046651 RCV002422474 RCV000687177 |
678 | H>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002420696 CA249308179 rs897199998 RCV000632947 |
679 | I>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1949384403 RCV001290129 |
680 | I>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1949384455 RCV001255642 |
680 | I>T | Lip and oral cavity carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388166818 RCV001322691 RCV001014097 rs1422900655 |
680 | I>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000492272 rs1131690844 |
685 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1367290 RCV000492351 rs878853949 RCV000234228 CA10583160 COSM13117 |
685 | Q>* | eye Retinoblastoma (rb1) large_intestine Hereditary cancer-predisposing syndrome Retinoblastoma [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
| VAR_005585 | 685 | Q>P | RB [UniProt] | Yes | UniProt |
|
rs1566235470 CA388166881 RCV000693421 |
689 | Q>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388166884 rs1447082021 RCV002420374 RCV000533565 |
689 | Q>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001326436 rs1949384761 |
690 | N>S | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1593534748 RCV000796980 CA388166897 |
691 | E>K | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs775195256 RCV001014347 RCV000686681 CA033921 |
693 | E>G | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_051911 RCV000306444 COSM551466 rs3092903 RCV002305481 RCV001014403 CA033984 |
697 | D>E | lung Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Retinoblastoma [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1367296 RCV001294065 rs1131690891 RCV000492514 CA388166951 COSM1367295 |
698 | R>S | large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Retinoblastoma [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA388166959 rs1593534809 RCV001014421 |
699 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000114686 rs587778859 CA026421 |
701 | D>N | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388166977 COSM1942410 COSM22911 rs1131690865 RCV000492425 |
702 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000492437 CA388166979 rs1131690857 |
702 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121913295 COSM883 CA16602774 RCV000419273 |
706 | C>F | lung Small cell lung carcinoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
| VAR_005586 | 706 | C>Y | RB [UniProt] | Yes | UniProt |
|
rs1131690896 RCV000492727 |
710 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799512 rs1593538155 |
711 | I>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492516 rs137853296 RCV000013968 CA026423 VAR_005587 RCV002466401 |
712 | C>R | Retinoblastoma (rb1) Hereditary retinoblastoma Hereditary cancer-predisposing syndrome Retinoblastoma RB [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001014474 CA388167074 rs1593538161 |
713 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388167105 RCV000536039 rs1555294518 |
717 | I>M | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001209694 rs1949419727 |
718 | D>E | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1593538175 RCV000808999 |
720 | K>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000114688 rs587778849 CA026424 RCV001014655 |
722 | K>* | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566237098 RCV000695245 |
725 | V>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150600740 RCV001066407 CA249309787 |
729 | K>R | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000476967 rs1060503075 |
732 | P>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014746 CA249309812 rs778503152 RCV001306596 |
733 | H>L | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000632936 rs778503152 RCV001014744 CA388167209 |
733 | H>R | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587778835 CA026427 RCV000114689 |
733 | H>Y | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000793849 rs1593538220 CA388167225 |
736 | Q>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1372842030 RCV001860773 RCV001014727 CA388167228 |
736 | Q>P | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA026428 rs587778868 RCV000114690 |
737 | E>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388167239 rs587776787 RCV000632924 |
737 | E>D | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA034862 RCV001014843 RCV000632953 rs529366765 |
741 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Retinoblastoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs764520289 CA034875 RCV001014847 RCV000704707 |
741 | R>H | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001218489 rs529366765 |
741 | R>S | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000477058 CA16614063 rs1060503083 |
742 | V>L | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000114692 rs587778836 |
745 | K>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs958914211 CA249310350 RCV000697556 |
746 | E>Q | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1949430414 RCV001233849 |
747 | E>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000810234 rs1593539163 CA388167539 |
747 | E>K | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000013949 rs587776781 |
748 | E>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1949430616 RCV001196146 |
748 | E>* | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000013953 RCV002272016 rs121913297 COSM868 CA026433 RCV000429561 |
748 | E>* | lung Neoplasm Retinoblastoma (rb1) Small cell lung carcinoma Retinoblastoma [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs1131690911 RCV001326597 |
748 | E>D | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632956 rs121913297 CA388167545 |
748 | E>K | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA026435 rs587778861 RCV000114693 |
749 | Y>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555294600 RCV000632960 |
750 | D>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555294601 CA388167573 RCV000632940 |
752 | I>L | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555294601 RCV000705826 CA388167574 |
752 | I>V | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA026436 RCV002444580 rs587778642 RCV000121925 RCV001045444 |
754 | V>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000873005 COSM1587092 COSM947803 RCV002444946 CA035040 rs754814477 |
758 | S>L | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Retinoblastoma [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1593539225 RCV000801885 CA388167645 COSM947804 COSM1152658 |
762 | Q>* | endometrium Retinoblastoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA388167643 RCV002442661 RCV000801621 rs1593539225 |
762 | Q>K | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1593539228 RCV000817643 CA388167648 |
762 | Q>L | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388167657 rs1167280920 RCV000535183 RCV001015075 |
763 | R>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002458008 CA035090 rs138637932 RCV000632950 |
764 | L>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000492451 rs1131690894 |
767 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001015190 CA388167732 rs1593539271 |
775 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000573124 rs912203557 RCV001069557 CA249310458 |
776 | P>H | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000228067 RCV002444884 CA10583161 rs878853950 |
778 | T>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1593539364 RCV001015215 RCV001063422 CA388167764 |
778 | T>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1593539366 RCV000819160 COSM3955645 CA388167776 COSM3955646 |
780 | S>* | lung Retinoblastoma (rb1) Retinoblastoma [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001051062 RCV002256661 rs1949432262 |
782 | I>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1283644725 RCV002427480 RCV001035332 CA388167785 |
782 | I>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000528489 CA035332 RCV001015131 RCV000761011 rs754507551 |
786 | P>S | Medulloblastoma Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000013948 COSM1367318 RCV000492108 RCV000760351 rs137853293 CA026438 COSM23824 |
787 | R>* | Retinoblastoma (rb1) ovary large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system prostate Retinoblastoma [Ensembl, Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs137853293 RCV001320631 |
787 | R>G | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM947805 CA035361 RCV000859119 RCV000566207 rs748094394 RCV000459571 COSM1587091 RCV000455977 |
787 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Retinoblastoma [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1467492987 RCV002298827 CA388167831 RCV001015300 |
789 | P>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003166864 RCV001321511 rs1949432512 |
789 | P>S | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA035387 RCV002447426 rs777670056 RCV001349024 |
791 | K>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs947540268 CA249310474 RCV001300150 |
793 | P>S | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002458421 rs1240896329 CA388167861 RCV000795079 |
794 | S>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs869264218 RCV001214854 |
797 | L>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002249562 RCV001015383 RCV000870444 RCV002510996 rs374523971 CA035464 |
798 | R>Q | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1593539386 RCV001015294 CA915948572 RCV001523800 |
798 | R>Q | Retinoblastoma (rb1) Hereditary cancer-predisposing syndrome Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA035443 rs187912365 COSM925 RCV000467563 RCV000566527 |
798 | R>W | ovary Hereditary cancer-predisposing syndrome Retinoblastoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA035479 RCV000539938 rs749392116 RCV001015403 |
799 | I>M | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000811806 rs1593539435 |
802 | G>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1949433098 RCV001037141 |
803 | N>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_005588 | 803 | N>K | RB [UniProt] | Yes | UniProt |
|
RCV000492166 rs1131690868 |
805 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388167940 RCV001052322 rs1368593116 |
806 | I>M | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1949433250 RCV001214682 |
810 | K>* | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001295727 CA388167966 rs1371240619 RCV001015510 |
811 | S>G | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001015514 RCV001860796 CA388167968 rs1220980701 |
811 | S>N | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1949433358 RCV001064923 |
812 | P>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774744607 RCV000492309 CA388167986 RCV000492755 CA388167985 |
813 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000692489 rs1566237790 RCV002458234 CA388167993 |
814 | K>N | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388167991 RCV002458329 rs1566237785 RCV000709349 |
814 | K>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001302439 RCV001015556 CA388167990 rs1566237785 |
814 | K>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388168005 rs1593539493 RCV000989138 |
816 | S>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1949433558 RCV001301435 |
817 | E>G | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA035554 rs762271261 RCV001351863 |
817 | E>Q | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000114695 rs587778837 |
818 | G>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213847 rs1949433617 |
818 | G>D | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375751988 RCV000562044 RCV000539011 CA035571 RCV003153682 |
819 | L>V | Hereditary cancer-predisposing syndrome Retinoblastoma Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001208925 rs761015353 CA035646 |
821 | T>A | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000492188 rs1131690866 |
822 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368413787 RCV001015621 RCV000868331 CA035683 |
822 | P>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000801998 rs1593539538 |
825 | M>missing | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1949433927 RCV001308884 |
825 | M>I | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322861 rs1949433950 |
827 | P>A | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001344827 rs761068783 |
831 | I>L | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA035903 RCV001015689 rs761068783 RCV000467333 |
831 | I>V | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1131690906 RCV001228827 CA388168125 RCV000492748 |
834 | S>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Retinoblastoma [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA388168127 RCV000817795 rs1131690906 |
834 | S>L | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492489 CA388168153 CA388168152 rs1131690908 RCV000702285 |
838 | S>* | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001231360 rs1949484337 |
838 | S>P | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690900 CA388168164 RCV000492571 |
840 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015828 RCV000232184 RCV001038781 rs374157786 RCV002427492 CA035961 |
840 | G>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP ClinGen ESP ExAC TOPMed gnomAD |
|
rs374157786 RCV001301653 |
840 | G>W | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000114698 rs587778851 |
842 | S>* | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001203441 rs1949505926 |
843 | E>G | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000701850 rs1566240914 CA388168190 |
843 | E>Q | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1949505926 RCV001248637 |
843 | E>V | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA249314576 RCV000706270 RCV001770524 RCV000575829 rs754183765 |
845 | F>L | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000699688 rs1566240932 CA388168254 |
851 | M>T | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388168268 RCV001015955 rs1295589257 |
853 | C>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000693294 RCV003163168 CA388168267 rs1295589257 |
853 | C>R | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA388168269 rs1566240940 RCV001015957 RCV000792181 RCV000761115 |
853 | C>Y | Hereditary cancer-predisposing syndrome Retinoblastoma B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015974 RCV001225078 rs1566240957 CA388157279 |
856 | D>E | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388157275 rs1555295331 RCV000632955 |
856 | D>G | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492588 rs149359120 RCV001555707 RCV000467622 RCV000761059 CA036169 RCV001821379 |
856 | D>N | Hereditary cancer-predisposing syndrome Retinoblastoma B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA249287892 rs149359120 RCV002258096 RCV001042193 |
856 | D>Y | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002431949 rs1032510984 RCV001339753 CA388157283 |
857 | R>G | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000563507 rs144668210 RCV002510914 COSM1587090 RCV000552996 CA036194 COSM947807 |
857 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Retinoblastoma [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs144668210 RCV001015985 CA036220 |
857 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1593547157 CA388157352 RCV001324747 |
862 | S>R | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001233492 rs1949506505 RCV002429999 |
863 | A>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001049945 rs1949506524 |
864 | E>G | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1949506548 RCV001214983 |
865 | G>* | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235182 rs1949506548 |
865 | G>R | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388157395 rs1593547165 RCV001015900 |
866 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1949506601 RCV001308158 |
866 | S>R | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1949506622 RCV001109889 |
867 | N>D | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566240970 RCV000693529 CA388157417 |
867 | N>K | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1161450606 RCV001340381 RCV002431953 CA388157420 |
868 | P>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1949506762 RCV001315856 |
871 | P>L | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001359224 rs1470516350 CA388157474 RCV001016108 |
872 | L>P | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000814186 rs757818801 CA249287944 RCV002433970 |
874 | K>Q | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM1587089 RCV000078638 CA026444 RCV000810054 RCV000573514 COSM947808 rs143105337 |
876 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Retinoblastoma [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
CA036403 RCV000530269 RCV002431549 rs767232453 |
876 | R>H | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002458274 CA249287972 rs764140783 RCV000699594 |
879 | I>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1949507139 RCV002429638 RCV001049870 |
881 | G>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000366807 rs765537411 CA036632 RCV002256200 |
884 | E>D | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA036675 RCV000697825 rs758494086 |
885 | A>E | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA036655 RCV002456068 rs752897010 RCV000559975 |
885 | A>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000693027 rs1460190600 RCV002424638 CA388157637 |
886 | D>N | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA388157657 RCV000699975 rs1566241021 |
887 | G>E | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211053 rs777789154 CA036703 |
887 | G>R | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA388157668 rs1555295354 RCV000632966 |
888 | S>N | Retinoblastoma (rb1) Retinoblastoma [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388157786 RCV000692549 rs1566241168 |
893 | G>R | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566241180 RCV000706319 CA388157856 |
898 | Q>* | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757275103 CA037046 RCV000544257 |
898 | Q>H | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA388157943 CA388157941 rs1461167778 RCV001016379 RCV000537562 |
904 | M>I | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Retinoblastoma [ClinVar, NCI-TCGA] | Yes |
ClinGen gnomAD ClinVar NCI-TCGA dbSNP |
|
rs761999108 RCV001315389 RCV002431895 |
909 | T>I | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632943 rs761999108 CA037358 RCV001016407 |
909 | T>K | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1360367329 RCV000808820 CA388158244 |
910 | R>Q | Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
TCGA novel RCV001314437 rs1949528429 |
912 | Q>R | Variant assessed as Somatic; impact. Retinoblastoma [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV002438314 RCV000559312 rs1555295597 CA388158459 |
919 | S>G | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1949528633 RCV001318589 |
920 | M>I | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233281 RCV001016519 CA037404 rs148501460 |
920 | M>T | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1949528654 RCV001067412 |
921 | D>N | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067010 rs1949528678 RCV002436666 |
922 | T>A | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1949528716 RCV001047703 |
924 | N>K | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750946437 RCV001315901 |
925 | K>T | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067738 rs1433767914 RCV002436669 CA388158636 |
926 | E>D | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA388158629 RCV001016560 rs1593549718 RCV001860835 |
926 | E>G | Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053468 rs1949528826 |
927 | E>Q | Retinoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388250138 rs1328198608 |
2 | P>S | No |
ClinGen gnomAD |
|
|
CA388250159 TCGA novel rs1265159988 |
5 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
| rs1226865525 | 5 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs898303682 CA388250158 |
5 | T>S | No |
ClinGen TOPMed |
|
|
rs755482658 CA032568 |
6 | P>L | No |
ClinGen ExAC gnomAD |
|
| rs1131690852 | 7 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388250185 rs1593411967 |
10 | A>P | No |
ClinGen Ensembl |
|
| rs759465865 | 12 | T>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA026457 rs587778638 RCV000121916 |
15 | A>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA249842027 rs1046808421 |
19 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 19 | E>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297224382 CA388250240 |
20 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1444353743 CA388250250 |
21 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 22 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566174119 CA388250271 |
25 | P>S | No |
ClinGen Ensembl |
|
|
CA039485 rs770488256 |
26 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA388250282 rs1309325353 |
27 | P>S | No |
ClinGen gnomAD |
|
|
CA249842030 rs1020342293 |
28 | P>S | No |
ClinGen Ensembl |
|
|
CA388250333 rs587778869 |
35 | Q>E | No |
ClinGen gnomAD |
|
|
rs1411090163 CA388250352 |
37 | S>R | No |
ClinGen gnomAD |
|
|
CA027989 rs775161380 |
41 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA388250402 rs1436107555 |
46 | R>G | No |
ClinGen gnomAD |
|
|
CA028831 rs746702843 |
49 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1411922611 CA388250458 |
52 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 53 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769618862 CA029236 |
55 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA388250482 rs1265459908 |
56 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 64 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA033572 rs761011109 |
66 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs766579526 CA033856 |
69 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA034326 rs753307498 |
72 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA034309 rs369833913 |
72 | E>K | No |
ClinGen ESP ExAC |
|
|
CA034382 rs758881668 |
73 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 79 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780829988 CA035513 |
80 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751870680 CA035417 |
80 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA035609 rs755704180 |
82 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA388250658 rs1233268756 |
82 | S>T | No |
ClinGen TOPMed |
|
|
CA036273 rs543611480 |
87 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751925851 CA037032 |
90 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs779647793 CA037506 |
99 | W>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000480648 rs1064795438 |
112 | E>missing | No |
ClinVar dbSNP |
|
|
CA388252492 rs1593434259 |
115 | F>C | No |
ClinGen Ensembl |
|
| TCGA novel | 117 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 119 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA249846144 rs983885759 |
120 | L>Q | No |
ClinGen Ensembl |
|
|
rs1301539544 CA388252535 |
122 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| rs1566186125 | 124 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271889879 CA388252554 |
124 | I>T | No |
ClinGen gnomAD |
|
|
CA037786 rs775559506 COSM1367147 COSM1367148 |
127 | S>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA388252572 rs775559506 |
127 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 130 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 131 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886043313 RCV000402085 |
132 | F>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 133 | N>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 137 | E>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388252682 rs1322130234 |
141 | S>G | No |
ClinGen gnomAD |
|
|
CA388252690 rs1307149332 |
142 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 143 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 143 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 144 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266294051 CA388252717 |
146 | N>H | No |
ClinGen TOPMed |
|
| TCGA novel | 148 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA038167 rs748717860 |
148 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs895447213 CA249846377 |
150 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs773642334 CA038197 |
153 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs766849295 CA038243 |
155 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 162 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 165 | L>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 166 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388156792 rs587778826 |
170 | E>K | No |
ClinGen TOPMed |
|
|
CA388156810 rs1179558571 |
172 | I>M | No |
ClinGen gnomAD |
|
| VAR_069376 | 173 | Y>H | No | UniProt | |
|
CA388156824 rs1414479499 |
174 | L>F | No |
ClinGen gnomAD |
|
|
CA038515 rs777105879 |
176 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA249268744 rs970490020 |
179 | S>G | No |
ClinGen TOPMed |
|
|
CA038765 rs781708508 |
181 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA038807 rs746371228 |
187 | S>KI* | No |
ClinGen ExAC gnomAD |
|
|
CA388156925 rs1189153218 |
188 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA249269374 rs141366046 |
190 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 192 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs888654278 CA249269381 |
192 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 193 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA038876 rs768091260 |
194 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA038907 rs571823638 |
200 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388158089 rs1340261233 |
204 | E>K | No |
ClinGen gnomAD |
|
|
rs1446210103 CA388158097 |
204 | E>V | No |
ClinGen gnomAD |
|
|
CA249273450 rs763132212 |
206 | L>S | No |
ClinGen Ensembl |
|
|
CA249273454 rs868262022 |
209 | E>K | No |
ClinGen Ensembl |
|
|
CA388158211 rs1267000381 |
213 | V>M | No |
ClinGen gnomAD |
|
|
CA249273465 rs969056249 |
218 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs771567627 CA039184 |
225 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
COSM1236129 rs760584178 COSM1236130 CA039234 |
228 | K>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA388158561 rs1362138725 |
234 | L>V | No |
ClinGen gnomAD |
|
|
rs1173696113 CA388158611 |
236 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 237 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388158635 rs1402069667 |
238 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA388158638 COSM1587104 COSM947787 rs1402069667 |
238 | P>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 239 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171026832 CA388159254 |
244 | I>M | No |
ClinGen gnomAD |
|
|
rs778605591 CA039400 |
244 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 254 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746954896 CA039468 |
255 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA039474 rs770857159 |
256 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs770857159 CA388159365 |
256 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA388159395 rs1299654789 |
259 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1477712842 CA388159462 |
265 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388159529 rs1461707277 |
271 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 271 | T>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 271 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA249274439 rs576147971 |
274 | I>V | No |
ClinGen Ensembl |
|
|
rs1566192577 CA388159620 |
279 | K>E | No |
ClinGen Ensembl |
|
|
rs933023013 CA249274444 |
281 | H>Y | No |
ClinGen TOPMed |
|
|
rs1566192594 CA388159700 |
285 | I>M | No |
ClinGen Ensembl |
|
|
CA388159697 rs1168833404 |
285 | I>T | No |
ClinGen gnomAD |
|
|
CA388159838 rs1160807049 |
289 | K>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1425691895 CA388159896 |
294 | K>E | No |
ClinGen TOPMed |
|
|
RCV000657187 rs1555285133 |
297 | I>missing | No |
ClinVar dbSNP |
|
|
CA388159934 rs1286975378 |
297 | I>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 297 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759675910 CA249275364 |
298 | P>H | No |
ClinGen Ensembl |
|
|
CA039770 rs762149180 |
299 | F>S | No |
ClinGen ExAC |
|
| TCGA novel | 300 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 300 | M>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388160000 rs1411089830 |
303 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 303 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388160019 rs1292944238 |
305 | L>F | No |
ClinGen gnomAD |
|
|
rs773169052 CA039806 |
306 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA388160055 rs1328571912 |
309 | N>D | No |
ClinGen gnomAD |
|
|
rs1214283717 CA388160067 |
310 | G>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA388160571 rs780006952 |
314 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1566194323 | 318 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA040053 rs768565766 |
318 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 321 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388160648 rs776534331 |
322 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1367204 CA040123 COSM1367203 rs765678030 |
323 | E>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA388160675 rs1593448413 |
324 | I>M | No |
ClinGen Ensembl |
|
|
rs868847993 CA249276582 |
325 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 326 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753067086 CA040132 |
327 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 328 | N>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 328 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA040137 rs763377384 |
330 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763184576 CA040158 |
332 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 337 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172934380 CA388160821 |
339 | H>N | No |
ClinGen gnomAD |
|
| rs587778844 | 342 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 343 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388160922 rs1566194403 |
346 | D>G | No |
ClinGen Ensembl |
|
|
CA027372 rs780772793 |
348 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 349 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA249276614 rs1054869437 |
349 | D>N | No |
ClinGen Ensembl |
|
|
CA388160977 rs1368390928 |
350 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 352 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA027500 rs764547244 |
354 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA027528 rs568421803 |
357 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388161184 rs1198811715 |
360 | S>R | No |
ClinGen gnomAD |
|
|
rs1335567469 CA388161179 |
360 | S>T | No |
ClinGen TOPMed |
|
|
CA388161210 rs1566194740 |
362 | L>P | No |
ClinGen Ensembl |
|
|
rs1015497370 CA249277025 |
372 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 375 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239088692 CA388161550 |
393 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 394 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 399 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765021598 CA027795 |
402 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 404 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462517568 CA388161980 |
413 | E>A | No |
ClinGen gnomAD |
|
|
rs1346693507 CA388161994 |
415 | I>L | No |
ClinGen gnomAD |
|
|
rs1454134039 CA388161998 |
415 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA388161999 rs1438600147 |
416 | L>M | No |
ClinGen gnomAD |
|
|
CA388162002 rs1299630954 |
416 | L>P | No |
ClinGen gnomAD |
|
| rs1131690889 | 418 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 419 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 423 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 423 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772584049 COSM1562222 COSM1562223 CA028070 |
424 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 425 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464633359 CA388162064 |
425 | I>T | No |
ClinGen TOPMed |
|
|
CA388162078 rs778296403 |
427 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA028078 rs778296403 |
427 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771421892 CA028101 |
434 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA388162145 rs1262874800 |
437 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 450 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 451 | R>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 453 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388162591 rs1281607292 |
454 | Y>C | No |
ClinGen TOPMed |
|
|
CA388162597 rs769425649 |
455 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1131690884 CA388162613 |
458 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 462 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1316072808 CA388162678 |
465 | E>A | No |
ClinGen gnomAD |
|
|
rs1593456114 CA388162683 |
466 | E>K | No |
ClinGen Ensembl |
|
|
RCV000174841 rs797044649 |
471 | Q>missing | No |
ClinVar dbSNP |
|
|
CA388162786 rs1324397945 |
479 | D>Y | No |
ClinGen gnomAD |
|
|
CA388162798 rs1593456272 |
480 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 482 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388162824 rs1391587135 |
484 | M>V | No |
ClinGen TOPMed |
|
| rs587778832 | 486 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 491 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 492 | E>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA028885 rs771480219 |
492 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1465200753 CA388162888 |
494 | V>L | No |
ClinGen gnomAD |
|
|
rs746901651 CA028904 |
495 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA028910 rs560971404 |
496 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388162919 rs1384871566 |
499 | S>G | No |
ClinGen TOPMed |
|
|
rs1368944270 CA388163261 |
500 | R>S | No |
ClinGen Ensembl |
|
| TCGA novel | 503 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA249281910 rs146801558 |
504 | Q>L | No |
ClinGen Ensembl |
|
| TCGA novel | 505 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388163355 rs1204086259 |
508 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 509 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs917780773 CA249281918 |
510 | T>A | No |
ClinGen TOPMed |
|
|
CA249281921 rs145729675 |
511 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs879124999 CA249281930 |
512 | L>F | No |
ClinGen Ensembl |
|
|
rs1158433317 CA388163406 |
512 | L>S | No |
ClinGen gnomAD |
|
|
COSM35888 COSM1367237 CA249281937 rs1054316395 |
515 | P>L | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA249281936 rs866664638 |
515 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs138201027 CA249281938 |
516 | W>G | No |
ClinGen Ensembl |
|
|
rs1188370740 CA388163497 |
519 | N>I | No |
ClinGen gnomAD |
|
|
rs149620934 CA249281939 |
519 | N>K | No |
ClinGen Ensembl |
|
|
rs1174618849 CA388163512 |
520 | V>M | No |
ClinGen gnomAD |
|
| rs1131690876 | 526 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388163589 rs1331702695 |
526 | F>V | No |
ClinGen gnomAD |
|
|
CA388163611 rs1336947639 |
527 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 528 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000175134 rs398123332 |
529 | Y>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 529 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143324585 CA249281949 |
531 | V>G | No |
ClinGen Ensembl |
|
|
rs1237070816 COSM1367241 CA388163690 COSM1367242 |
533 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 535 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148379933 CA249281961 |
539 | E>K | No |
ClinGen Ensembl |
|
|
CA388163796 rs1566199584 |
541 | N>T | No |
ClinGen Ensembl |
|
|
CA249281976 rs143269980 |
544 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 545 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 548 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 549 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388163919 rs1347506622 |
550 | L>F | No |
ClinGen gnomAD |
|
|
rs772222746 CA029262 |
555 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA388163994 rs773116120 |
556 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 556 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA249282019 rs139494954 |
558 | M>R | No |
ClinGen Ensembl |
|
|
rs1419550675 CA388164011 |
558 | M>V | No |
ClinGen gnomAD |
|
|
rs1131690869 CA388164031 |
559 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 559 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA026387 RCV000121917 rs587778639 |
559 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs143400770 CA249282023 |
561 | L>P | No |
ClinGen Ensembl |
|
|
CA249282026 rs139500527 |
563 | W>G | No |
ClinGen Ensembl |
|
|
rs918222012 CA249282041 |
565 | S>P | No |
ClinGen TOPMed |
|
|
CA388165427 rs1190813356 |
566 | D>E | No |
ClinGen gnomAD |
|
|
CA249305407 rs754634473 |
568 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 572 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388165470 rs1478823304 |
573 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 574 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 574 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388165488 rs1423561311 |
576 | S>P | No |
ClinGen gnomAD |
|
|
CA249305423 rs988652249 |
577 | K>Q | No |
ClinGen Ensembl |
|
|
CA249305426 rs763635151 |
578 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA032372 rs763635151 |
578 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 581 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388165519 rs1350821464 |
581 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1350821464 CA388165521 |
581 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs968643096 CA249305437 |
582 | P>S | No |
ClinGen Ensembl |
|
|
CA032443 rs781151884 |
583 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 584 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 584 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388165579 rs1322074724 |
591 | P>A | No |
ClinGen gnomAD |
|
|
rs1361971661 CA388165597 |
594 | L>F | No |
ClinGen TOPMed |
|
|
CA032551 rs772068738 |
595 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs3092896 CA249305472 |
599 | N>S | No |
ClinGen Ensembl |
|
|
CA249305477 rs910909092 |
601 | T>S | No |
ClinGen Ensembl |
|
|
rs867778929 CA249305482 |
602 | A>E | No |
ClinGen Ensembl |
|
|
CA032614 rs777791058 |
603 | A>T | No |
ClinGen ExAC |
|
|
rs1453229619 CA388165690 |
606 | Y>H | No |
ClinGen TOPMed |
|
|
rs775051210 CA032761 |
608 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA388165719 rs1359386263 |
611 | R>K | No |
ClinGen gnomAD |
|
|
CA388165724 rs1398478487 |
612 | S>T | No |
ClinGen gnomAD |
|
|
CA032808 rs751060248 |
614 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs761397680 CA032821 |
614 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA249306666 rs267603840 |
618 | S>* | No |
ClinGen Ensembl |
|
| TCGA novel | 620 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA249306690 rs373601944 |
621 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388165785 rs1555293837 |
622 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 623 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA032983 rs781691254 |
630 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA388166013 rs1217977493 |
631 | Q>K | No |
ClinGen gnomAD |
|
|
rs1566234088 CA388166045 |
633 | T>A | No |
ClinGen Ensembl |
|
|
CA388166043 rs1566234088 |
633 | T>P | No |
ClinGen Ensembl |
|
|
rs1249069450 CA388166154 |
641 | P>Q | No |
ClinGen gnomAD |
|
|
rs1173892082 CA388166215 |
646 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 647 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768484859 CA033062 |
649 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 650 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 650 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388166673 rs769113950 |
654 | V>G | No |
ClinGen ExAC gnomAD |
|
| rs1566234123 | 654 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA033440 rs562956970 |
657 | L>Q | No |
ClinGen 1000Genomes ExAC |
|
|
rs202119986 CA033458 |
658 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA033500 rs587778834 |
658 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM327254 rs759365746 CA033537 |
659 | Y>H | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA033521 rs759365746 |
659 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA033625 rs750578651 |
661 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA033652 rs749739772 |
664 | T>K | No |
ClinGen ExAC |
|
|
CA249308151 rs774826703 |
667 | E>K | No |
ClinGen Ensembl |
|
|
rs79200171 CA249308162 |
673 | H>D | No |
ClinGen Ensembl |
|
| TCGA novel | 677 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201046651 CA033805 |
678 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 679 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 680 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 680 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 684 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388166864 rs1172128543 |
686 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
RCV000176032 rs398123333 |
689 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1294102595 CA388166907 |
692 | Y>C | No |
ClinGen gnomAD |
|
|
rs1283902639 CA388166929 |
695 | M>I | No |
ClinGen gnomAD |
|
|
CA026420 rs727504122 |
695 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 697 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388166940 rs1358369644 |
697 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 707 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200948879 CA388167095 |
716 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 719 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 725 | V>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 726 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA249309782 rs760770528 |
727 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs760770528 CA034342 |
727 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 728 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150600740 CA388167184 |
729 | K>T | No |
ClinGen ESP TOPMed |
|
|
rs766487603 CA034359 |
730 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 735 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593539110 CA388167455 |
738 | T>K | No |
ClinGen Ensembl |
|
|
rs529366765 CA388167484 |
741 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764520289 CA034898 |
741 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1060503083 CA388167491 |
742 | V>F | No |
ClinGen gnomAD |
|
|
rs1593539141 CA388167508 |
743 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 744 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388167510 rs1306675913 |
744 | I>V | No |
ClinGen gnomAD |
|
|
CA249310355 VAR_034442 rs3092905 |
746 | E>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs767200255 CA034948 |
747 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs750057315 CA034985 |
747 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 750 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388167588 rs587778642 |
754 | V>I | No |
ClinGen gnomAD |
|
|
rs769184222 CA035024 |
758 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 759 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 759 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 767 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 769 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777040395 CA388167704 |
770 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA388167709 rs1363146373 |
771 | Y>C | No |
ClinGen gnomAD |
|
|
CA035138 rs746038522 |
771 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
RCV000121924 rs267603841 CA026437 |
773 | S>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA388167753 rs912203557 |
776 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 777 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 778 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 779 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388167814 rs778755215 |
786 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA035346 rs778755215 |
786 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 786 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA035373 rs748094394 |
787 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467492987 CA388167829 |
789 | P>H | No |
ClinGen TOPMed |
|
|
RCV000176364 COSM3733248 CA026439 rs794727372 COSM3733249 |
790 | Y>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA249310468 rs777965926 |
791 | K>Q | No |
ClinGen Ensembl |
|
|
rs746089525 CA035396 |
794 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA388167876 rs1158706854 |
796 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 797 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451667942 CA388167902 |
801 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 801 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 803 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 804 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768761378 CA035527 |
809 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA388167969 rs1220980701 |
811 | S>T | No |
ClinGen gnomAD |
|
|
CA388167975 rs1264333384 |
812 | P>S | No |
ClinGen gnomAD |
|
|
rs759015619 CA035708 |
823 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs771303006 CA035912 |
833 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA035927 rs776167810 |
835 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1394610552 CA388168137 |
836 | G>D | No |
ClinGen gnomAD |
|
|
rs1167049945 CA388168134 |
836 | G>S | No |
ClinGen gnomAD |
|
|
RCV000756594 rs1566240909 |
841 | T>* | No |
ClinVar dbSNP |
|
|
CA388168183 rs1358216534 |
841 | T>I | No |
ClinGen gnomAD |
|
|
rs1179208056 CA388168186 |
842 | S>A | No |
ClinGen gnomAD |
|
|
CA388168215 rs1231557654 |
846 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 848 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243148353 CA388168240 |
849 | N>S | No |
ClinGen gnomAD |
|
|
COSM1300235 rs886042935 CA10604891 RCV000376609 COSM13404 |
850 | Q>* | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA388168259 rs1346717703 |
851 | M>I | No |
ClinGen TOPMed |
|
|
rs1204453868 CA388157260 |
855 | S>N | No |
ClinGen gnomAD |
|
|
CA249287897 rs1032510984 |
857 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 857 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388157297 rs1242773691 |
858 | V>A | No |
ClinGen gnomAD |
|
|
CA036302 rs769539980 |
868 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775273085 CA036315 |
869 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA388157433 rs1415559108 |
869 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 875 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 875 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 877 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259535894 CA388157570 |
880 | E>A | No |
ClinGen TOPMed |
|
|
CA036610 rs575278710 |
883 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1455323877 CA388157759 |
890 | H>R | No |
ClinGen TOPMed |
|
|
CA388157755 rs1481077087 |
890 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 891 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768950233 CA249288367 |
892 | P>L | No |
ClinGen Ensembl |
|
|
rs764171812 CA388157791 |
893 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs764171812 CA036995 |
893 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA037124 rs781740936 |
902 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA388158210 rs1432581053 |
908 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 913 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388158411 rs1475201975 |
917 | N>S | No |
ClinGen TOPMed |
|
|
rs1319312586 CA388158484 |
920 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750946437 CA037427 |
925 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs756634613 CA037436 |
927 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA388158674 rs1185752129 |
929 | K>G | No |
ClinGen gnomAD |
3 associated diseases with P06400
[MIM: 180200]: Childhood cancer retinoblastoma (RB)
Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated. {ECO:0000269|PubMed:10671068, ECO:0000269|PubMed:11524739, ECO:0000269|PubMed:1352883, ECO:0000269|PubMed:2594029, ECO:0000269|PubMed:7704558, ECO:0000269|PubMed:7795591, ECO:0000269|PubMed:7927327, ECO:0000269|PubMed:8346255, ECO:0000269|PubMed:8605116, ECO:0000269|PubMed:8776589, ECO:0000269|PubMed:9140452, ECO:0000269|PubMed:9311732, ECO:0000269|PubMed:9973307}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 109800]: Bladder cancer (BLC)
A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 259500]: Osteogenic sarcoma (OSRC)
A sarcoma originating in bone-forming cells, affecting the ends of long bones. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated. {ECO:0000269|PubMed:10671068, ECO:0000269|PubMed:11524739, ECO:0000269|PubMed:1352883, ECO:0000269|PubMed:2594029, ECO:0000269|PubMed:7704558, ECO:0000269|PubMed:7795591, ECO:0000269|PubMed:7927327, ECO:0000269|PubMed:8346255, ECO:0000269|PubMed:8605116, ECO:0000269|PubMed:8776589, ECO:0000269|PubMed:9140452, ECO:0000269|PubMed:9311732, ECO:0000269|PubMed:9973307}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A sarcoma originating in bone-forming cells, affecting the ends of long bones. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P06400
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Retinoblastoma-associated protein, B-box | 646 - 765 | IPR002719 |
| domain | Retinoblastoma-associated protein, A-box | 373 - 573 | IPR002720 |
| domain | Cyclin-like domain | 660 - 761 | IPR013763 |
| domain | Retinoblastoma-associated protein, C-terminal | 768 - 927 | IPR015030 |
| domain | Retinoblastoma-associated protein, N-terminal | 103 - 229 | IPR024599 |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| chromatin lock complex | A chromatin silencing complex that binds and bridges separate nucleosomal histones resulting in heterochromatin assembly and chromatin looping. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| Rb-E2F complex | A multiprotein complex containing a heterodimeric E2F transcription factor and a Retinoblastoma (Rb) family member. This complex is capable of repressing transcription of E2F-regulated genes in order to regulate cell cycle progression. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
| SWI/SNF complex | A SWI/SNF-type complex that contains 8 to 14 proteins, including both conserved (core) and nonconserved components; contains the ATPase product of the yeast SNF2 or mammalian SMARCA4/BAF190A/BRG1 gene, or an ortholog thereof. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| disordered domain specific binding | Binding to a disordered domain of a protein. |
| 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. |
| identical protein binding | Binding to an identical protein or proteins. |
| importin-alpha family protein binding | Binding to a member of the importin-alpha family. |
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
| phosphoprotein binding | Binding to a phosphorylated protein. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
60 GO annotations of biological process
| Name | Definition |
|---|---|
| aortic valve morphogenesis | The process in which the structure of the aortic valve is generated and organized. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| cell morphogenesis involved in neuron differentiation | The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron. |
| cellular response to insulin stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| cellular response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| chondrocyte differentiation | The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte. A chondrocyte is a polymorphic cell that forms cartilage. |
| chromatin remodeling | A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication. |
| digestive tract development | The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed. |
| enucleate erythrocyte differentiation | The process in which a myeloid precursor cell acquires specialized features of an erythrocyte without a nucleus. An example of this process is found in Mus musculus. |
| epithelial cell proliferation | The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. |
| glial cell apoptotic process | Any apoptotic process in a glial cell, a non-neuronal cell of the nervous system. |
| glial cell proliferation | The multiplication or reproduction of glial cells by cell division, resulting in the expansion of their population. Glial cells exist throughout the nervous system, and include Schwann cells, astrocytes, and oligodendrocytes among others. |
| hepatocyte apoptotic process | Any apoptotic process in a hepatocyte, the main structural component of the liver. |
| heterochromatin assembly | An epigenetic gene silencing mechanism in which chromatin is compacted into heterochromatin, resulting in a chromatin conformation refractory to transcription. This process starts with heterochromatin nucleation, its spreading, and ends with heterochromatin boundary formation. |
| maintenance of mitotic sister chromatid cohesion | The process in which the association between sister chromatids of a replicated chromosome is maintained as chromosomes condense, attach to the spindle in a bipolar orientation, and congress to the metaphase plate during a mitotic cell cycle. |
| myoblast differentiation | The process in which a relatively unspecialized cell acquires specialized features of a myoblast. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers. |
| negative regulation of apoptotic signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway. |
| negative regulation of cell cycle | Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle. |
| negative regulation of cell growth | Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
| negative regulation of cold-induced thermogenesis | Any process that stops, prevents, or reduces the rate of cold-induced thermogenesis. |
| negative regulation of DNA-binding transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of epithelial cell proliferation | Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. |
| negative regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that decreases or inhibits the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of glial cell proliferation | Any process that stops or decreases the rate or extent of glial cell proliferation. |
| negative regulation of hepatocyte apoptotic process | Any process that stops, prevents or reduces the frequency, rate or extent of hepatocyte apoptotic process. |
| negative regulation of inflammatory response | Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. |
| negative regulation of myofibroblast differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of myofibroblast differentiation. |
| negative regulation of protein kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. |
| negative regulation of protein serine/threonine kinase activity | Any process that decreases the rate, frequency, or extent of protein serine/threonine kinase activity. |
| negative regulation of smoothened signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of smoothened signaling. |
| negative regulation of tau-protein kinase activity | Any process that stops, prevents or reduces the frequency, rate or extent of tau-protein kinase activity. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| negative regulation of transcription involved in G1/S transition of mitotic cell cycle | Any process that stop, prevents or decreases transcription as part of the G1/S transition of the mitotic cell cycle. |
| neuron apoptotic process | Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. |
| neuron maturation | A developmental process, independent of morphogenetic (shape) change, that is required for a neuron to attain its fully functional state. |
| neuron projection development | The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| positive regulation of collagen fibril organization | Any process that activates or increases the frequency, rate or extent of collagen fibril organization. |
| positive regulation of extracellular matrix organization | Any process that activates or increases the frequency, rate or extent of extracellular matrix organization. |
| positive regulation of macrophage differentiation | Any process that activates or increases the frequency, rate or extent of macrophage differentiation. |
| positive regulation of mitotic metaphase/anaphase transition | Any process that activates or increases the frequency, rate or extent of the cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of transcription regulatory region DNA binding | Any process that activates or increases the frequency, rate or extent of transcription regulatory region DNA binding. |
| protein localization to chromosome, centromeric region | Any process in which a protein is transported to, or maintained at, the centromeric region of a chromosome. |
| Ras protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of centromere complex assembly | Any process that modulates the rate, frequency, or extent of centromere complex assembly, the aggregation, arrangement and bonding together of proteins and centromeric DNA molecules to form a centromeric protein-DNA complex. |
| regulation of cohesin loading | Any process that modulates the frequency, rate or extent of a process in which a cohesin complex is transported to, or maintained at, a part of a chromosome that is organized into chromatin. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of lipid kinase activity | Any process that modulates the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. |
| regulation of mitotic cell cycle | Any process that modulates the rate or extent of progress through the mitotic cell cycle. |
| sister chromatid biorientation | The cell cycle process in which sister chromatids establish stable attachments to microtubules emanating from opposite spindle poles. |
| skeletal muscle cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a skeletal muscle cell, a somatic cell located in skeletal muscle. |
| smoothened signaling pathway | The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
| striated muscle cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle. |
| tissue homeostasis | A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPPKTPRKTA | ATAAAAAAEP | PAPPPPPPPE | EDPEQDSGPE | DLPLVRLEFE | ETEEPDFTAL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CQKLKIPDHV | RERAWLTWEK | VSSVDGVLGG | YIQKKKELWG | ICIFIAAVDL | DEMSFTFTEL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QKNIEISVHK | FFNLLKEIDT | STKVDNAMSR | LLKKYDVLFA | LFSKLERTCE | LIYLTQPSSS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ISTEINSALV | LKVSWITFLL | AKGEVLQMED | DLVISFQLML | CVLDYFIKLS | PPMLLKEPYK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TAVIPINGSP | RTPRRGQNRS | ARIAKQLEND | TRIIEVLCKE | HECNIDEVKN | VYFKNFIPFM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NSLGLVTSNG | LPEVENLSKR | YEEIYLKNKD | LDARLFLDHD | KTLQTDSIDS | FETQRTPRKS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NLDEEVNVIP | PHTPVRTVMN | TIQQLMMILN | SASDQPSENL | ISYFNNCTVN | PKESILKRVK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DIGYIFKEKF | AKAVGQGCVE | IGSQRYKLGV | RLYYRVMESM | LKSEEERLSI | QNFSKLLNDN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IFHMSLLACA | LEVVMATYSR | STSQNLDSGT | DLSFPWILNV | LNLKAFDFYK | VIESFIKAEG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NLTREMIKHL | ERCEHRIMES | LAWLSDSPLF | DLIKQSKDRE | GPTDHLESAC | PLNLPLQNNH |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TAADMYLSPV | RSPKKKGSTT | RVNSTANAET | QATSAFQTQK | PLKSTSLSLF | YKKVYRLAYL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RLNTLCERLL | SEHPELEHII | WTLFQHTLQN | EYELMRDRHL | DQIMMCSMYG | ICKVKNIDLK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FKIIVTAYKD | LPHAVQETFK | RVLIKEEEYD | SIIVFYNSVF | MQRLKTNILQ | YASTRPPTLS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PIPHIPRSPY | KFPSSPLRIP | GGNIYISPLK | SPYKISEGLP | TPTKMTPRSR | ILVSIGESFG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TSEKFQKINQ | MVCNSDRVLK | RSAEGSNPPK | PLKKLRFDIE | GSDEADGSKH | LPGESKFQQK |
| 910 | 920 | ||||
| LAEMTSTRTR | MQKQKMNDSM | DTSNKEEK |