P07954
PR
Gene name |
FH |
Protein name |
Fumarate hydratase, mitochondrial |
Names |
Fumarase, HsFH |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2271 |
EC number |
4.2.1.2: Hydro-lyases |
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
8 structures for P07954
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3E04 | X-ray | 195 A | A/B/C/D | 44-510 | PDB |
| 5D6B | X-ray | 210 A | A | 49-510 | PDB |
| 5UPP | X-ray | 180 A | A/B | 45-510 | PDB |
| 6EBT | X-ray | 230 A | A/B | 45-510 | PDB |
| 6V8F | X-ray | 230 A | A/B | 45-510 | PDB |
| 6VBE | X-ray | 190 A | A/B | 45-510 | PDB |
| 7LUB | X-ray | 215 A | A/B | 45-510 | PDB |
| AF-P07954-F1 | Predicted | AlphaFoldDB |
801 variants for P07954
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000794812 RCV002522126 RCV002535910 RCV002418146 RCV002422699 RCV000369616 rs776806414 RCV000307949 |
1 | M>L | Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002524006 rs201261794 RCV000493638 |
1 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002551805 rs201261794 RCV001017952 |
1 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000498198 rs776806414 RCV002417984 |
1 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002461294 RCV000572622 CA40338139 rs199971078 |
2 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002358784 rs1553342167 RCV002529839 CA345443111 |
2 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023401 CA1478785 rs112335468 RCV001662540 |
2 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002547376 RCV002546842 rs112335468 |
2 | Y>N | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA321335 RCV000196918 RCV002415845 rs202166344 |
3 | R>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000346414 RCV000568788 RCV000204400 RCV001818470 CA319970 RCV000195609 rs202166344 |
3 | R>G | Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001018625 rs1573890051 RCV002549481 CA345443104 |
3 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1252151546 RCV002563872 CA345443095 RCV002348799 |
4 | A>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA345443100 rs1573890047 RCV002534780 RCV000804394 |
4 | A>T | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553342165 RCV000566793 CA345443088 |
5 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002388217 rs200099371 RCV002544830 CA40338101 |
5 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1395036789 RCV002427510 RCV001042383 RCV002551514 |
9 | A>missing | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001764682 RCV000562796 rs766915154 RCV000635299 CA40338096 |
9 | A>G | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA40338083 rs201507555 RCV002434450 RCV001759736 RCV001759949 RCV001039209 |
10 | R>C | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs199912971 CA40338059 RCV002551468 RCV002339199 |
12 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000700942 CA1478782 RCV001771986 rs367826177 RCV001020691 |
12 | R>L | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002514640 RCV000121087 rs587778360 RCV002354305 CA159734 |
13 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA345442989 rs1190505598 RCV001021388 |
13 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002518291 CA10577692 RCV000217403 rs587778360 |
13 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587778360 CA40338045 RCV002537277 RCV000808009 RCV002363079 |
13 | P>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1060500900 RCV001556671 RCV000493321 |
14 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000635308 CA40338036 rs981562354 RCV002509481 RCV002325224 |
14 | L>F | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000635314 rs1553342163 CA345442977 RCV002331135 RCV002508241 |
14 | L>P | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204220 rs1660322018 RCV002561147 |
15 | V>A | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA345442973 RCV001022429 rs1463008959 RCV002551854 |
15 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001023079 rs762310232 CA345442957 |
16 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1324875131 RCV002334348 CA345442959 RCV002533605 |
16 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000563316 RCV002528981 rs755886213 CA1478780 |
17 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA321044 RCV000566056 RCV001722092 rs111548093 |
17 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002350561 RCV002543525 rs1660321288 |
18 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000273634 RCV000121088 RCV002498563 rs201887750 RCV000756164 CA289157 RCV000493989 RCV000331003 |
18 | P>L | Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1478777 RCV001024665 rs572324497 RCV002550899 |
20 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002551905 rs1573889953 CA345442915 RCV001024776 RCV001832358 |
20 | A>V | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000493959 CA345442894 rs1131691251 |
21 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003163189 CA40338006 rs1031919395 RCV001771965 CA40338008 RCV001025446 RCV002508277 |
22 | L>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1573889943 RCV001025670 RCV002551934 RCV001827208 CA345442855 |
23 | A>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003103886 RCV001026389 CA345442825 rs999146815 RCV001243101 |
25 | A>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000121090 RCV002515870 RCV000570367 rs187226800 RCV000392281 RCV002483216 CA289160 RCV000227292 |
26 | P>L | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1339215584 CA345442784 RCV002532214 RCV002422500 |
27 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000219137 CA10577691 RCV002519693 rs876659347 |
31 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345442723 rs1371664717 RCV000569300 RCV002530338 |
32 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1371664717 RCV001019431 CA345442725 |
32 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1319755767 RCV002509451 RCV000562224 RCV001046087 CA345442710 |
33 | V>G | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002436991 RCV001280071 CA345442706 rs1191023697 |
34 | P>S | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs942065027 CA345442696 RCV001760354 RCV002402840 |
35 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs942065027 RCV001017127 CA40337936 RCV001827191 RCV001574592 |
35 | S>W | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA345442670 RCV001009917 rs1573889881 |
37 | W>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1660318244 RCV003104040 RCV002546922 |
37 | W>S | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA40337913 RCV001010297 RCV001037079 rs876658186 RCV002549316 |
40 | N>K | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000837956 CA189176 RCV000394167 RCV000342312 RCV000163787 RCV002267906 rs201486221 |
41 | A>V | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002384077 rs200496951 RCV002528325 RCV000537507 CA345442626 |
43 | R>G | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000561722 CA323363 rs863223982 RCV002515400 |
44 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000494432 rs1131691237 |
45 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA345442071 RCV001010940 rs1260007300 RCV002549331 |
45 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000494159 RCV000200269 rs863223980 RCV000445602 CA324825 |
47 | Q>* | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs976734433 RCV002537051 CA345442006 RCV000797723 |
51 | R>P | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1478759 RCV002537177 RCV002256525 RCV002465783 rs778678782 COSM138282 RCV000804384 |
51 | R>W | Fumarase deficiency Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1478757 rs543844061 RCV000565315 RCV002528977 RCV001273185 |
52 | I>L | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001529890 RCV000445623 rs863224013 CA16609380 RCV002402222 |
53 | E>* | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002517215 CA322588 rs863224013 RCV002399736 |
53 | E>K | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001216082 rs1660245455 |
55 | D>N | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001766358 RCV002528877 rs1232573732 CA345441963 |
56 | T>A | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002551761 rs1433872618 RCV001012693 CA345441961 |
56 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002549374 CA345441960 RCV001012692 rs1433872618 |
56 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs11545659 RCV001012881 CA345441941 RCV001731888 |
58 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA645369175 RCV002524010 rs1131691246 RCV000494321 |
60 | L>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230326 rs1660244612 |
61 | K>Q | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002548469 CA345441902 RCV002413827 rs199894369 |
62 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000387476 rs886046319 RCV002520481 RCV000570874 RCV000338926 CA10609927 |
64 | N>D | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA321905 RCV000456662 rs145116688 RCV001013787 RCV000197441 |
65 | D>G | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs769956664 RCV002413481 CA1478750 RCV000549382 RCV002528326 |
65 | D>N | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002491134 RCV002530335 CA40335952 RCV000574732 rs145116688 |
65 | D>V | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001784335 rs1558402241 CA345441848 CA345441846 RCV002422551 RCV001014112 |
67 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1660243497 RCV002418844 RCV002568623 |
67 | Y>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573888450 RCV001014114 |
68 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001782930 rs1060500883 RCV000493845 COSM3804563 CA16610089 |
68 | Y>* | Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA345441843 RCV001266670 rs1189016440 |
68 | Y>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003153423 RCV000462728 rs587782207 RCV000130874 CA167291 RCV000200494 |
70 | A>T | Variant assessed as Somatic; 0.0 impact. Fumarase deficiency Hereditary cancer-predisposing syndrome Ovarian cancer [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000804160 RCV002537175 RCV002422752 CA345441815 rs1573888433 |
70 | A>V | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886039362 RCV001062945 CA10588293 RCV000254803 RCV002429193 |
72 | T>P | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001532106 RCV000163293 CA187930 rs201878591 RCV000467508 RCV002291575 |
73 | V>M | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000571616 RCV002528980 CA1478746 rs146739519 RCV000635311 |
74 | R>S | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1660242061 RCV001201265 |
75 | S>missing | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1243267 RCV002442637 CA1478745 RCV000796492 rs778578307 RCV002537027 |
76 | T>M | Variant assessed as Somatic; 0.0 impact. Fumarase deficiency oesophagus Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA40335889 RCV001015256 rs993218685 RCV002549414 |
78 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1553341945 RCV000567476 RCV002526809 |
80 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573888362 RCV001233377 RCV002480762 |
80 | K>N | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001326221 RCV003166913 RCV002546165 rs1660241142 |
80 | K>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000445591 RCV000486885 RCV000493657 rs1553341942 |
81 | I>missing | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001015542 rs1573888356 |
81 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10581787 RCV002519779 rs878853692 RCV000765098 |
84 | V>A | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002438735 rs1324632356 RCV002546095 RCV001322322 CA345441658 |
85 | T>R | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA1478738 RCV000467729 RCV001530785 rs139642944 RCV000568361 |
87 | R>C | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1478737 COSM906412 RCV001016095 RCV002550814 RCV003153886 rs200007371 RCV001051373 |
87 | R>H | Variant assessed as Somatic; 4.624e-05 impact. Fumarase deficiency Hereditary cancer-predisposing syndrome endometrium Ovarian cancer [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002563042 RCV002429949 CA40335864 rs200007371 |
87 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002561911 RCV002436829 CA345441105 rs1455612736 |
91 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1573886490 RCV001016588 |
93 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1660148115 RCV002546075 RCV001320190 |
95 | A>V | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003104006 RCV001017627 rs1573886484 RCV001274350 CA345440957 |
98 | I>M | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1660147766 RCV002547082 RCV003169701 |
98 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002286713 RCV000199584 rs863224017 |
99 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558401094 RCV002544854 RCV001018055 |
101 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000017619 RCV000130873 rs121913120 RCV000199330 CA167288 RCV000515176 |
101 | R>* | Hereditary leiomyomatosis and renal cell cancer (hlrcc) Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA341389 RCV000017625 rs75086406 RCV000489422 RCV002433458 |
101 | R>P | Hereditary leiomyomatosis and renal cell cancer (hlrcc) Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000466487 rs75086406 RCV001018184 CA1478716 RCV001546164 |
101 | R>Q | Hereditary leiomyomatosis and renal cell cancer (hlrcc) Fumarase deficiency Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000349307 CA192361 RCV000165037 RCV000388495 RCV001582651 rs61753295 |
102 | A>V | Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1256116208 RCV001018556 RCV001772194 CA345440828 |
103 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1303488878 CA345440826 RCV002552524 RCV002320255 |
104 | A>T | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000213630 RCV000275674 rs876658569 |
105 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001766846 RCV001019019 rs1382226356 CA345440765 RCV001832344 |
106 | V>A | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_013497 RCV000493777 RCV000017620 CA257456 RCV000078148 rs121913121 |
107 | N>T | Hereditary leiomyomatosis and renal cell cancer (hlrcc) Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer HLRCC [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000445632 CA16609377 RCV000626620 RCV002526367 rs1060499630 |
108 | Q>* | Hereditary leiomyomatosis and renal cell cancer Uterine leiomyoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002537480 RCV000820876 RCV002442754 rs757312078 CA1478714 RCV001766737 |
109 | D>E | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA345440701 RCV001019537 rs1573886432 RCV002551818 |
109 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1478712 RCV002320359 rs764340490 RCV002554632 |
111 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002537497 CA40333058 RCV000821202 rs1029743950 RCV002453887 |
113 | D>E | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000463959 RCV000575301 RCV001101031 rs201532589 RCV000034484 CA215560 |
116 | I>F | Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000255340 rs886039363 VAR_013498 RCV001020456 CA10588292 |
117 | A>P | Hereditary cancer-predisposing syndrome HLRCC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002533543 rs1558401064 RCV001020556 |
118 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001020531 RCV000808925 RCV002538041 RCV002487745 rs200738857 CA1478711 |
118 | N>D | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002453804 rs1395827785 CA345440536 RCV002537211 |
119 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA197225 RCV000166997 rs199641124 RCV002516512 RCV000469505 RCV001101030 |
120 | I>V | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1660144128 RCV001327400 |
123 | A>P | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002538492 RCV001297602 rs1660143983 |
124 | A>T | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573886367 CA345440410 RCV001021145 |
126 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003165593 RCV002516308 rs878853693 CA10581785 RCV000232407 |
127 | V>L | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345440227 RCV002528327 RCV000530788 RCV000765097 rs1553341620 RCV002358479 |
128 | A>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000445600 rs863223995 RCV000195662 |
131 | K>* | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000445618 rs1060499631 |
131 | K>* | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000445629 rs1060499632 CA16609375 |
132 | L>S | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001209597 rs1298815479 RCV002322024 RCV001751383 CA345440175 |
135 | H>Q | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000165850 RCV001557300 CA194346 rs786202833 |
135 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001215674 RCV001760194 rs1660101853 |
137 | P>L | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1466082062 RCV000561208 CA16621976 RCV002528328 RCV000559902 |
138 | L>V | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA345440149 RCV002332687 RCV002534912 rs1573885528 |
139 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021974 CA1478683 RCV000810319 RCV001252807 RCV003153850 rs200343823 RCV001100769 RCV001585739 |
139 | V>M | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer Microcephaly Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000195996 RCV000821881 CA320385 RCV002327039 rs746195750 RCV002515401 |
140 | V>L | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA345440135 rs1355199594 RCV001022133 RCV002551848 |
142 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002550874 RCV001022160 CA345440131 rs1573885503 |
142 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549552 RCV001022288 CA345440117 rs1057521425 |
144 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001784560 RCV001022335 RCV001766853 rs1573885482 CA345440112 |
145 | S>* | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000345017 RCV000166128 rs11545654 CA195071 |
146 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000657166 RCV000445601 rs1060499633 |
147 | T>missing | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863223983 CA322337 RCV002327040 RCV002517213 |
147 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345440080 RCV000493891 RCV002524008 rs1131691242 |
150 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1660099266 RCV002339648 RCV001773530 |
151 | M>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1478678 RCV000802996 RCV002537153 rs749752047 |
151 | M>L | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001230001 RCV002339629 rs1660099266 |
151 | M>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001023046 rs878853694 CA10581784 RCV001782719 |
160 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573885421 CA345440008 RCV001023109 RCV002550882 |
161 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002543856 rs1370195868 CA345439981 RCV002341671 |
164 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1660097824 RCV002348780 RCV002563775 |
166 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA345439962 RCV002334365 RCV002534406 rs1558400520 |
167 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023474 rs776190273 RCV000484908 |
168 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA345439945 RCV001023520 rs1573885366 |
170 | G>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002537094 CA345439943 rs1573885360 RCV002334505 |
170 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345439938 RCV002348731 rs1157774951 RCV001780139 |
171 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002528329 RCV002341290 rs201154463 CA40331857 RCV000548223 |
172 | K>E | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1558400504 CA345439926 RCV002534369 RCV000699131 |
173 | I>L | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000353057 RCV000492836 CA220381 RCV000078149 RCV000022554 rs199822819 |
174 | P>R | Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000572769 rs1553341598 CA345439919 |
174 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000445619 rs1060499634 |
175 | V>missing | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001196074 rs1158759883 RCV000498190 CA345439904 |
176 | H>R | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000572955 RCV002527731 RCV000551411 COSM906408 rs1553341588 CA345439887 |
179 | D>N | Fumarase deficiency large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
VAR_013499 RCV001781575 RCV000493387 CA324566 rs863224015 |
180 | H>R | Hereditary cancer-predisposing syndrome HLRCC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000445584 RCV000486167 RCV000572356 rs768182640 |
185 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206935 rs1660094798 |
185 | Q>H | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779707997 RCV000445603 VAR_013500 RCV000494490 RCV000196456 CA320867 |
185 | Q>R | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome HLRCC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA345439509 RCV000494364 rs1131691233 |
186 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000131997 rs587782618 CA169030 RCV001029752 RCV002514749 |
186 | S>N | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000445585 CA16610114 rs398123166 RCV001024322 RCV001782935 RCV000078150 CA220384 |
187 | S>* | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs398123166 RCV000492920 CA1478650 RCV000445604 RCV002522732 |
187 | S>L | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000494308 rs1131691248 |
188 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16617118 RCV000478475 rs1064793125 RCV002350049 |
189 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024403 RCV002528876 rs1553341367 |
190 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002551894 RCV001024493 CA345439467 rs1573883342 |
192 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573883345 RCV001024482 RCV001098959 CA345439470 RCV002551893 RCV001100768 |
192 | P>S | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573883332 RCV002487693 CA345439461 RCV002537132 |
193 | T>I | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002526368 rs1060499635 RCV000563738 RCV000445627 |
193 | T>missing | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA167337 RCV000130897 RCV000765096 RCV000477037 RCV001731390 rs587782215 RCV001547779 |
194 | A>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000505795 rs863223965 RCV002222438 RCV002354552 CA324917 |
195 | M>T | Hereditary leiomyomatosis and renal cell cancer (hlrcc) Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002527733 RCV002358480 rs1553341364 CA345439454 |
195 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1478649 rs763601207 RCV000493685 |
196 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000572384 rs1553341363 CA345439445 |
196 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201764931 CA40329595 RCV002355064 RCV002554436 |
197 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA345439430 rs1414507017 RCV001764648 RCV000575434 |
198 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1478647 rs775099009 RCV001252752 |
199 | A>G | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001317256 rs1659997677 RCV002543721 |
200 | A>V | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002515155 rs786202907 RCV000165970 |
200 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002553773 RCV002355040 rs1476664795 CA345439415 |
201 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002546202 rs1659997422 RCV001326843 |
201 | I>V | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002352107 CA345439396 RCV002544714 rs1060500898 |
204 | H>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000196812 RCV002354553 rs863223996 CA321226 |
204 | H>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1424868653 CA345439394 RCV002256724 RCV002561897 RCV002570382 |
204 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
RCV000460134 RCV001591075 rs763183520 RCV001024965 CA1478645 |
206 | V>I | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002528331 RCV001783040 CA345439351 rs1553341353 |
212 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002553885 rs770141324 RCV002255615 |
215 | H>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002547560 rs199536615 RCV001821687 RCV001352503 RCV001529212 CA1478642 RCV000564564 RCV000705539 |
216 | D>E | Hereditary cancer-predisposing syndrome Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA345439320 rs1553341348 RCV002527734 RCV000531582 |
216 | D>V | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345439307 rs1553341345 RCV001025388 |
218 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001025411 RCV002523294 RCV001098958 rs11545656 RCV000472774 CA1478641 |
219 | D>N | Hereditary leiomyomatosis and renal cell cancer (hlrcc) Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060500893 RCV001025432 RCV002525538 CA16610058 |
220 | A>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001025484 rs1573883195 |
222 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761058 RCV001816725 RCV002360790 RCV000699536 RCV002533564 rs1448268784 CA345439288 RCV001843543 |
222 | S>T | Fumarase deficiency Hereditary cancer-predisposing syndrome B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified Hepatoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002535449 rs1064795294 CA345439280 RCV000817439 |
223 | K>I | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001069489 rs1064795294 RCV001025534 CA16617117 RCV000480081 |
223 | K>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002513083 RCV000017621 rs780001199 |
224 | E>missing | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002367803 rs149651434 CA40329413 RCV002527736 |
225 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001766736 RCV002363154 CA1478635 rs778786425 |
226 | A>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs753773918 RCV002537466 CA345439247 RCV002363155 |
228 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002547160 rs755587163 CA345439239 RCV002360738 |
229 | I>M | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000820286 RCV002535515 rs764065194 CA1478632 |
229 | I>V | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_002445 RCV000494410 CA1478630 RCV001782983 rs752232718 |
230 | K>R | Hereditary cancer-predisposing syndrome FMRD and HLRCC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1335587342 CA345439228 RCV000804121 RCV001770522 RCV000562550 |
231 | I>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000549060 RCV000129845 CA165194 RCV000153237 rs587781682 |
233 | R>C | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002551940 RCV001025872 CA345439219 rs587781682 |
233 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000178717 RCV000017623 RCV000493379 RCV003128387 CA257459 RCV000196988 VAR_013501 rs121913123 |
233 | R>H | Hereditary leiomyomatosis and renal cell cancer (hlrcc) Variant assessed as Somatic; 0.0 impact. Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer HLRCC; catalytically inactive mutant; abolished ability to promote DNA repair [Ensembl, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002362588 RCV000017624 CA257461 RCV001781272 rs121913123 |
233 | R>L | Hereditary leiomyomatosis and renal cell cancer (hlrcc) Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002498811 RCV000163828 rs372505976 RCV000195694 CA189288 |
234 | T>A | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA16609371 rs863223968 RCV000445621 |
235 | H>D | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001784597 RCV002365686 rs1659990191 |
235 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863223968 RCV002257492 CA323994 RCV000199454 |
235 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002528978 RCV000563559 CA345439171 RCV002465724 rs1553341319 |
241 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002386008 rs1060499636 CA345439154 RCV000635312 |
244 | L>P | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16609370 RCV003168712 RCV000445612 rs1060499636 |
244 | L>R | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691243 RCV001782986 RCV000493486 CA345439127 |
247 | E>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA345439087 rs1131691239 RCV000493068 |
253 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001273817 RCV001026656 CA1478610 RCV002552415 rs752144845 RCV001759919 |
255 | V>I | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs978988174 RCV000561375 CA40328261 RCV002526808 |
256 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1553341166 CA345439050 RCV000569320 |
258 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000796601 rs1407485828 CA345439044 |
259 | M>K | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002399735 RCV000199721 rs863223984 |
260 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1659924638 RCV002409418 RCV002553184 |
261 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570420 rs61736558 RCV002528982 CA40328246 |
261 | R>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001577505 rs786203177 RCV000166376 CA195695 |
262 | I>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002411574 CA40328243 rs199829765 RCV002553904 |
262 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001559555 RCV000164936 rs786202220 |
263 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001759921 RCV001026914 rs765997824 CA1478606 |
263 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000017617 CA257450 rs387906545 |
265 | A>T | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000493233 rs1131691234 RCV002524005 |
269 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000522295 RCV003139736 rs1553341163 |
269 | I>* | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569054 CA40328204 RCV002530240 RCV001241084 RCV001554283 rs377015873 |
269 | I>V | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1060499637 RCV000445636 |
270 | Y>missing | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs202060616 RCV000525718 RCV000573963 CA1478602 RCV001551931 |
270 | Y>C | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16610105 RCV000574968 RCV001770311 rs779019570 |
272 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs863223985 RCV002288798 RCV002415846 RCV000195479 |
273 | A>missing | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000200636 CA325227 RCV000467363 rs772190176 RCV000572182 |
273 | A>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs1573881663 CA345438956 RCV001027257 |
273 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000445594 rs1060499638 CA16609367 |
274 | A>P | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060499639 CA16609366 CA16610104 RCV002525542 RCV000494229 RCV000489286 RCV000445614 |
275 | G>R | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002429988 RCV003142196 RCV002563210 rs1659922131 |
277 | T>missing | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553341160 RCV002431570 RCV001755818 CA345438935 |
277 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002433881 RCV001249415 rs863223969 RCV000197030 CA321464 |
280 | G>D | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549462 CA345438912 RCV001017764 rs1573881633 |
281 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA40328150 RCV002563808 VAR_013502 rs935002190 |
282 | G>V | HLRCC [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002442613 CA40328147 rs200791185 RCV002535856 |
285 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001018267 RCV001053290 RCV002549474 rs771087739 CA1478598 |
292 | K>Q | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1659920259 RCV002374983 RCV002555864 |
294 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM109577 CA40328124 rs147437099 RCV002257117 |
294 | A>V | Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000166620 rs145843819 RCV000121091 RCV000687788 CA159740 RCV000034485 |
295 | A>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000493248 RCV000445630 CA246534 RCV000442479 rs201395553 |
298 | A>P | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1162334354 RCV001229703 RCV001553142 |
302 | G>D | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002375352 CA40328111 RCV002541881 rs200412958 RCV001299094 |
302 | G>S | Variant assessed as Somatic; 0.0 impact. Fumarase deficiency Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs201502246 CA215563 RCV000568576 RCV000471678 RCV000034486 |
303 | L>S | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1057523697 RCV002481331 CA16603666 RCV000445241 |
303 | L>V | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200491078 RCV002377041 RCV001545353 RCV000525503 CA1478574 |
304 | P>R | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs794727836 RCV000199793 RCV000179717 RCV001018881 |
305 | F>missing | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002549490 rs1439046582 RCV001018919 CA345438419 |
305 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs147991516 RCV000569138 RCV001731756 CA1478573 RCV002490990 RCV000540225 RCV001097195 |
306 | V>A | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16603595 rs1057524385 RCV000430394 RCV001019060 |
308 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs121913118 VAR_002446 CA40327917 |
308 | A>T | FMRD [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001589168 rs756528378 RCV002487046 CA1478570 RCV000230405 RCV002372248 |
309 | P>L | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1478571 rs368849989 RCV000571863 RCV001591074 |
309 | P>S | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1553341046 VAR_002447 CA345438376 RCV001784209 |
312 | F>C | FMRD [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000197788 rs863224000 RCV000493445 CA322251 |
312 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553341046 RCV002445265 RCV001558848 |
312 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002372179 CA321156 RCV000196740 rs863224001 |
313 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001832346 RCV001019358 rs1573880536 CA345438360 RCV003117697 |
315 | L>V | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558397845 RCV000778976 |
316 | A>missing | FH-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224002 RCV000199702 RCV000494152 CA324246 |
316 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA285329 RCV000762893 RCV000445608 RCV000078152 RCV002371923 rs398123168 |
318 | H>Y | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002570350 RCV001246874 CA40327915 rs766441385 RCV003166550 |
320 | A>S | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA40327914 RCV001019524 rs202147731 |
320 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001019611 RCV000445631 CA320499 rs863224003 RCV000196089 |
322 | V>G | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002532308 rs1423324601 RCV001019701 RCV000695514 CA345438303 |
325 | S>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553341037 RCV002386007 RCV002533197 CA345438297 |
326 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1333344957 CA345438294 RCV001346594 RCV002377470 RCV002547064 |
327 | A>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_013503 | 328 | M>R | HLRCC [UniProt] | Yes | UniProt |
|
RCV000574405 RCV000457338 rs768483509 CA1478562 RCV001591073 |
329 | N>S | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1478561 rs776313200 RCV003160398 RCV002553244 |
330 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA345438274 RCV002534338 rs776313200 RCV001019860 |
330 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553341034 RCV000635294 |
331 | T>missing | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000635309 RCV001019941 CA345438264 RCV003103816 rs1157768121 |
332 | A>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553341031 RCV002386006 CA345438252 RCV002529840 |
333 | C>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001784211 rs1553341032 RCV002386009 CA345438255 |
333 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002564124 rs1659853029 RCV002339690 |
334 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA345438250 RCV002549302 rs587782216 RCV001009653 |
334 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA167342 RCV000130899 rs587782216 RCV002512544 |
334 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs863223972 CA322414 RCV000493913 |
336 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA159743 RCV001061733 RCV001558721 rs201975537 RCV000121092 RCV000575122 |
338 | I>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1659852423 RCV002339570 RCV002561926 |
339 | A>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs398123159 RCV000220396 RCV000445596 RCV000078140 CA285319 |
340 | N>K | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000493972 RCV002515398 CA319914 rs863223973 |
341 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002525530 CA16609365 RCV000445616 rs1060499640 |
341 | D>G | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1478559 RCV002528003 RCV001050789 rs201383596 RCV000569364 |
342 | I>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000197989 COSM906404 RCV000017622 rs121913122 RCV000130875 CA167294 |
343 | R>* | Hereditary leiomyomatosis and renal cell cancer (hlrcc) Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome endometrium Variant assessed as Somatic; 4.619e-05 impact. [Ensembl, ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002549447 CA1478558 rs756990249 RCV001017058 RCV001214537 |
343 | R>Q | Variant assessed as Somatic; 0.0 impact. Fumarase deficiency Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000445598 rs1060499641 RCV000575212 RCV001782908 |
348 | G>missing | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1254962869 RCV000563710 CA345438151 |
349 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002528002 RCV000572030 rs1553341017 CA345438145 |
349 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000567804 RCV000994324 RCV000635318 CA1478555 rs749316923 |
350 | R>Q | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000198662 RCV001100941 RCV002465557 RCV000696839 rs755436052 CA323206 RCV003165454 |
350 | R>W | Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002402239 COSM679716 CA345438126 CA16610049 rs1060500896 RCV001782982 RCV000494465 RCV001782931 |
351 | S>* | lung Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD NCI-TCGA |
|
RCV002288799 RCV000494113 RCV000197689 rs863224016 |
353 | L>missing | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16603671 rs1057523184 RCV002411379 RCV000418837 |
354 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001782909 RCV000445617 CA16609363 rs1060499642 |
355 | E>* | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727503927 RCV000190645 CA233988 RCV000790808 |
356 | L>* | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017201 CA345438056 RCV001273816 rs1388251431 |
357 | I>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002411925 RCV001280070 rs1027877625 |
357 | I>V | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000635303 rs1553341012 |
361 | N>missing | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493004 rs756469140 RCV000196197 RCV000445586 |
362 | E>missing | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002552593 rs121913119 RCV002281646 |
362 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA257453 RCV000017618 VAR_081606 RCV002426509 rs121913119 |
362 | E>Q | Fumarase deficiency Hereditary cancer-predisposing syndrome HLRCC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000220270 rs863223966 RCV000445606 CA320604 RCV000196179 |
365 | S>G | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1131691238 RCV000493020 RCV002527073 CA345437940 |
365 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000200592 rs863224004 RCV001017278 RCV002291591 CA325181 |
366 | S>N | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002546908 rs1659848371 RCV002456480 |
370 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA345437664 RCV000701529 rs1060499643 |
373 | N>I | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000445626 RCV002525531 rs1060499643 CA16609362 |
373 | N>S | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577685 RCV000222416 rs876660446 |
374 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA220373 RCV000445587 RCV000078141 RCV002444546 rs398123160 |
376 | Q>* | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002550828 rs1467002768 RCV001017415 CA345437598 |
376 | Q>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA189211 rs200796606 RCV000199873 RCV000163798 RCV000034920 RCV001762109 RCV002280864 |
376 | Q>P | Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome Hepatocellular carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs398123161 RCV000078142 CA220376 RCV002321568 |
377 | C>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345437584 rs1553340880 RCV000635286 |
377 | C>Y | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001782910 rs781466938 RCV000445607 RCV002323668 |
380 | M>missing | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000121093 RCV002514641 RCV000554866 RCV000567053 rs587778362 CA159746 |
380 | M>V | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886039365 RCV000254948 RCV000492991 CA10588290 |
382 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA40327751 RCV002352347 rs904463039 RCV002298778 |
384 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA295616 RCV000445620 rs727503926 RCV000153234 RCV000217529 |
385 | A>D | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001197942 rs1659807516 |
386 | Q>H | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16610070 rs750447792 RCV001551727 RCV000562894 |
386 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000219659 CA10577684 RCV001762501 RCV000695731 rs876660830 |
388 | M>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549308 CA345437473 rs1573879331 RCV001010056 |
388 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573879313 RCV000810743 |
389 | G>missing | Fumarase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA345437446 RCV001072142 RCV003128750 rs1178007598 |
390 | N>S | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000445595 CA325330 RCV000465210 RCV002336534 rs863224007 RCV000200752 |
397 | G>R | Variant assessed as Somatic; 0.0 impact. Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA345437370 rs1372936109 RCV002334258 RCV002509510 |
399 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000493140 CA345437357 rs1131691247 |
400 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002545608 rs1659805291 RCV002350651 |
400 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764430466 RCV000568126 RCV002526908 CA1478531 RCV001223310 |
400 | N>S | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1573879289 RCV001010204 CA345437342 RCV002550757 |
401 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10588289 rs886039366 RCV002347970 RCV000255487 |
402 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002533514 CA1478530 rs760360724 RCV000698203 RCV002343499 |
402 | H>Y | Variant assessed as Somatic; 0.0 impact. Fumarase deficiency Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1060499644 RCV001010289 RCV000445613 RCV002525532 |
403 | F>missing | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA347361 rs797044974 RCV001579461 RCV000192733 |
404 | E>* | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10577683 RCV002515638 rs876659362 RCV000216325 |
406 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201381362 RCV002537475 CA1478525 RCV001010457 |
411 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1573878145 CA345436949 RCV002549320 RCV002282425 RCV001010521 |
414 | K>* | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573878136 CA345436898 RCV001010544 |
417 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002524009 rs1131691244 RCV000494270 CA345436872 COSM3789718 |
419 | S>L | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. urinary_tract [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA285322 RCV000078144 rs200004220 RCV000492881 RCV000445624 |
419 | S>P | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs766377516 RCV002543121 RCV003166728 RCV001305118 RCV002486186 CA1478486 |
420 | A>V | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001222615 rs1659747962 RCV002562557 RCV002447119 |
421 | R>M | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001010667 RCV000196004 CA320395 rs863224009 |
423 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345436828 RCV000635297 RCV002528875 rs1553340705 |
424 | G>R | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_002448 | 425 | D>V | FMRD [UniProt] | Yes | UniProt |
|
CA345436781 COSM350010 rs1573878095 RCV001010728 RCV002549325 |
427 | S>L | lung Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1558396381 CA345436774 RCV000705052 RCV002533725 |
428 | V>L | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002563050 rs1659746788 RCV002379848 |
430 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA40327543 RCV000543314 rs201005880 RCV002527719 RCV001098856 RCV001010798 |
431 | T>I | Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000078145 RCV000445588 RCV000461548 RCV000493624 rs398123163 |
432 | E>missing | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573878071 RCV001010580 |
433 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492797 rs398123164 RCV000078146 CA285326 |
434 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM906402 RCV001564388 RCV000571469 RCV000121094 RCV000473170 CA159749 rs147528200 |
435 | V>M | Variant assessed as Somatic; 0.0 impact. Fumarase deficiency Hereditary cancer-predisposing syndrome endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA345436666 RCV002551736 rs1324526971 RCV001010900 |
436 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002379423 COSM74665 CA16610101 rs1060500899 RCV002525541 |
442 | T>R | ovary Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
CA345436556 rs749266351 RCV002532321 RCV000695735 |
444 | R>G | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000478909 rs1553340686 RCV003139683 |
446 | N>missing | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863223977 CA324795 RCV002515399 RCV000493806 |
447 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000445609 rs1553340681 |
449 | M>missing | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376502356 RCV002384360 RCV001301673 CA40327539 RCV002539479 CA1478473 |
449 | M>I | Fumarase deficiency Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD NCI-TCGA |
|
rs863223990 RCV000494640 |
451 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201388169 RCV002544745 CA40327538 RCV002386167 RCV000686337 |
452 | S>T | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002530336 rs200244096 CA40327537 RCV000569843 CA40327536 |
456 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV000198336 rs863223992 RCV000494183 |
458 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1478469 RCV003159781 RCV002527720 RCV000536299 COSM337661 rs767253363 |
460 | N>S | lung Fumarase deficiency Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000635290 RCV002388028 rs201625211 CA40327534 RCV002529841 |
462 | H>Y | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001818531 RCV000222699 rs876659472 RCV002515649 CA10577682 |
463 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691250 CA345451186 RCV000493404 |
464 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573877922 RCV001011297 CA345436270 |
464 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1193325 CA345451179 RCV002388029 RCV002528874 rs1131691250 |
464 | G>V | lung Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000445635 RCV002390521 rs863224010 RCV000197211 CA321656 |
465 | Y>C | Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000693306 CA345451104 RCV002532233 rs1558395525 |
466 | D>E | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000457993 rs1060500906 CA16610027 RCV002525543 |
469 | A>T | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs922905323 CA40371763 RCV001011420 RCV000550902 RCV002254703 RCV002527721 |
470 | K>E | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs765643179 RCV001772135 CA40371759 RCV000819944 RCV001011457 |
472 | A>V | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002529838 RCV000635283 CA1478441 RCV001011509 rs369802820 RCV001766357 |
474 | T>I | Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA215566 RCV000381370 RCV001011508 RCV000034487 rs369802820 RCV000332300 |
474 | T>R | Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000445597 CA319934 rs863224012 |
475 | A>E | Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001762110 rs367543046 RCV000034483 RCV001000649 RCV000034921 RCV000164180 |
477 | K>missing | Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
CA345450716 rs786202199 RCV000801893 RCV002537140 |
478 | N>K | Fumarase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003103776 RCV002393092 CA1478439 RCV000462215 rs201886827 |
478 | N>S | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA345450690 rs1131691245 RCV003103996 RCV000493518 |
480 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000485484 rs1064796708 RCV003168979 CA16617112 |
482 | L>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001591415 CA40371654 RCV002388030 RCV000635302 rs1017406473 |
483 | K>Q | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570137 RCV001001725 rs201115573 RCV001550243 CA1478433 |
488 | E>K | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002393069 rs1060499645 RCV000445610 RCV002522734 |
490 | G>missing | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002528983 rs773801940 CA40371583 RCV000565062 |
491 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs749713004 RCV000528987 RCV002395335 RCV001811037 CA1478431 |
491 | Y>H | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000297629 rs886041201 RCV000494455 |
492 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002552061 rs1659663430 RCV001034756 RCV002391089 |
492 | L>V | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777256203 RCV002393255 CA1478430 RCV002553248 |
493 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA345450431 RCV002526907 RCV001829607 rs1553340508 RCV000561988 |
494 | A>P | Fumarase deficiency Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002393477 CA1478428 RCV002562364 rs752369363 |
494 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001011782 rs750838853 RCV001326411 RCV002549347 CA1478425 RCV001585920 |
499 | E>K | Variant assessed as Somatic; 0.0 impact. Fumarase deficiency Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000494499 RCV000254913 CA10588287 rs886039368 RCV000445633 |
500 | W>* | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1478424 RCV002546179 RCV002395722 rs201893992 |
501 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000494476 RCV000354790 RCV000445599 rs886041202 |
503 | P>missing | Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002395762 rs1659661748 RCV002547060 |
503 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002395536 RCV000597494 CA345450002 rs1425094515 |
507 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA345449932 RCV000569393 rs1553340499 |
509 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002534620 CA915942118 rs1573890070 |
2 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553342165 RCV002563802 |
5 | L>V | No |
ClinVar dbSNP |
|
|
RCV002563737 rs1660323820 |
8 | L>V | No |
ClinVar dbSNP |
|
|
rs1226883651 CA345443018 |
11 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1226883651 CA345443020 |
11 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs762310232 CA1478781 |
16 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1194889415 CA345442932 |
19 | A>T | No |
ClinGen gnomAD |
|
|
rs990315199 CA40338027 |
19 | A>V | No |
ClinGen Ensembl |
|
|
CA1478778 rs572324497 |
20 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345442891 rs1131691251 |
21 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV000121089 CA159737 rs587778361 |
24 | S>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs999146815 CA40337987 |
25 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA345442817 rs1573889933 RCV002534700 |
25 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 27 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553342155 RCV000598954 |
28 | L>missing | No |
ClinVar dbSNP |
|
|
RCV002539537 rs876659347 |
31 | A>E | No |
ClinVar dbSNP |
|
|
CA1478774 rs765041223 |
33 | V>M | No |
ClinGen ExAC |
|
|
rs1398860901 CA345442702 |
34 | P>L | No |
ClinGen gnomAD |
|
|
CA345442700 rs1573889890 RCV002534772 |
35 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1415259326 CA345442654 |
39 | P>L | No |
ClinGen TOPMed |
|
|
rs1415259326 CA345442655 |
39 | P>Q | No |
ClinGen TOPMed |
|
|
rs1573889860 RCV001784412 |
41 | A>missing | No |
ClinVar dbSNP |
|
|
CA345442627 rs1194980336 RCV003103968 |
42 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV001784418 CA40337895 rs200496951 |
43 | R>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA345442612 rs1296948655 |
44 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 45 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345442051 rs1211942353 |
46 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV001008066 rs1573888556 |
47 | Q>missing | No |
ClinVar dbSNP |
|
|
CA345442022 rs1200934499 |
49 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1558402284 CA345442019 |
50 | F>L | No |
ClinGen Ensembl |
|
|
CA40336041 rs976734433 |
51 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs543844061 RCV002567915 |
52 | I>V | No |
ClinVar dbSNP |
|
|
rs1270054582 CA345441980 |
54 | Y>C | No |
ClinGen TOPMed |
|
|
rs1660245400 RCV002563200 |
55 | D>G | No |
ClinVar dbSNP |
|
|
CA1478755 RCV002546810 rs759884607 |
57 | F>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1573888513 RCV001784432 CA345441931 |
59 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1478753 CA345441906 rs766840026 RCV002563812 |
61 | K>N | No |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
|
CA40336010 rs199894369 |
62 | V>L | No |
ClinGen TOPMed |
|
|
CA345441892 RCV002536952 rs1573888488 |
63 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV002532876 rs1558402255 |
64 | N>missing | No |
ClinVar dbSNP |
|
|
rs773309062 CA1478751 |
64 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA40335968 rs387906546 |
64 | N>T | No |
ClinGen Ensembl |
|
|
RCV002553374 rs769956664 CA345441874 |
65 | D>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA345441840 rs1472397242 |
68 | Y>C | No |
ClinGen gnomAD |
|
|
rs1660243078 RCV003104026 |
69 | G>D | No |
ClinVar dbSNP |
|
|
CA345441802 rs886039362 |
72 | T>A | No |
ClinGen gnomAD |
|
|
rs200922399 CA1478747 |
74 | R>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000599074 rs1553341951 |
75 | S>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 77 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250096728 RCV002534915 CA345441743 |
77 | M>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA345441748 rs1277364872 |
77 | M>V | No |
ClinGen gnomAD |
|
|
rs1558402209 RCV002533555 CA345441733 |
78 | N>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs961743629 CA40335888 |
79 | F>C | No |
ClinGen TOPMed |
|
|
CA345441715 rs1443879574 |
79 | F>L | No |
ClinGen gnomAD |
|
|
CA345441687 rs1558402197 RCV002533711 |
82 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1478740 rs767697201 |
83 | G>HSF* | No |
ClinGen ExAC |
|
|
CA1478739 rs755343833 |
86 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs763390436 CA323841 |
88 | M>K | No |
ClinGen ExAC gnomAD |
|
|
RCV002563231 rs1660240175 |
88 | M>L | No |
ClinVar dbSNP |
|
|
rs763390436 CA1478736 |
88 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1489304373 CA345441609 |
89 | P>S | No |
ClinGen TOPMed |
|
|
TCGA novel CA345441120 RCV002536941 rs1401508226 |
90 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA345441128 rs1401508226 |
90 | T>S | No |
ClinGen gnomAD |
|
|
rs1171873052 CA345441113 |
91 | P>A | No |
ClinGen gnomAD |
|
|
CA345441112 rs1171873052 |
91 | P>S | No |
ClinGen gnomAD |
|
|
RCV002553183 rs1660148233 |
93 | I>T | No |
ClinVar dbSNP |
|
|
rs573311798 CA1478718 |
93 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1660147877 RCV002554626 |
97 | G>R | No |
ClinVar dbSNP |
|
|
CA345440939 rs1217611838 |
99 | L>F | No |
ClinGen gnomAD |
|
|
CA40333101 rs61753295 |
102 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1252176030 CA345440793 |
105 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 108 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 110 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199539887 CA40333051 RCV002546228 |
114 | P>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
RCV002535487 rs1573886415 |
115 | K>missing | No |
ClinVar dbSNP |
|
|
rs1002840183 CA40333038 |
115 | K>E | No |
ClinGen Ensembl |
|
|
rs1465574376 CA345440562 |
118 | N>K | No |
ClinGen TOPMed |
|
|
rs1395827785 CA345440529 |
119 | A>E | No |
ClinGen gnomAD |
|
|
rs776891545 CA40333025 |
119 | A>T | No |
ClinGen TOPMed |
|
|
CA345440498 rs1573886382 |
121 | M>K | No |
ClinGen Ensembl |
|
|
rs76196814 CA40332993 |
121 | M>L | No |
ClinGen Ensembl |
|
|
rs1660143834 RCV002552519 |
126 | E>* | No |
ClinVar dbSNP |
|
|
rs1417243893 CA345440414 |
126 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769184741 CA1478685 |
134 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA345440176 RCV002527727 rs786202833 |
135 | H>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553341617 CA345440178 RCV000521844 |
135 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA40331981 rs947067446 |
136 | F>S | No |
ClinGen TOPMed |
|
|
RCV002561813 rs1660101853 |
137 | P>R | No |
ClinVar dbSNP |
|
| TCGA novel | 139 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200343823 RCV002547438 |
139 | V>L | No |
ClinVar dbSNP |
|
|
rs1573885519 RCV002535912 |
140 | V>missing | No |
ClinVar dbSNP |
|
|
CA1478681 rs746195750 |
140 | V>I | No |
ClinGen ExAC gnomAD |
|
|
RCV002538003 CA345440133 rs1355199594 |
142 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
RCV002563904 rs1660100641 |
144 | G>missing | No |
ClinVar dbSNP |
|
|
CA345440120 rs1232023682 |
144 | G>R | No |
ClinGen TOPMed |
|
|
RCV000438718 CA16603598 rs1057521425 |
144 | G>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1573885482 RCV002545027 |
145 | S>L | No |
ClinVar dbSNP |
|
|
RCV001784340 CA345440100 rs1558400571 |
148 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553341610 RCV000657292 |
149 | T>missing | No |
ClinVar dbSNP |
|
|
RCV002544999 rs1660099527 |
150 | N>D | No |
ClinVar dbSNP |
|
|
RCV002546990 rs1660099527 |
150 | N>H | No |
ClinVar dbSNP |
|
|
CA321960 rs1553341607 |
155 | E>V | No |
ClinGen Ensembl |
|
|
RCV003018491 rs863224014 |
155 | E>V | No |
ClinVar dbSNP |
|
|
rs778399986 RCV002561226 CA1478677 |
157 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV002563924 rs1060500902 |
158 | S>I | No |
ClinVar dbSNP |
|
|
RCV002268071 rs1060500902 CA16610060 RCV000498842 |
158 | S>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1307815197 CA345440003 |
161 | A>V | No |
ClinGen gnomAD |
|
|
RCV002561135 rs1660098180 |
162 | I>missing | No |
ClinVar dbSNP |
|
|
rs752857980 CA1478675 |
162 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA40331862 RCV002544752 rs746612719 |
166 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV002543537 rs1660097679 |
167 | G>missing | No |
ClinVar dbSNP |
|
|
RCV002534618 rs1573885382 CA345439960 |
168 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1323852794 CA345439958 |
168 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1391253764 CA345439949 |
169 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV002533626 CA345439916 rs199822819 |
174 | P>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345439903 rs1158759883 |
176 | H>L | No |
ClinGen gnomAD |
|
|
CA1478673 rs200222595 |
178 | N>D | No |
ClinGen 1000Genomes ExAC |
|
|
RCV002547371 rs1553341588 |
179 | D>Y | No |
ClinVar dbSNP |
|
| TCGA novel | 180 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV002544920 CA345439859 rs1558400468 |
182 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs750316531 CA1478671 |
184 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs377660762 CA345439829 RCV002536398 |
184 | S>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs750316531 CA1478670 RCV002553274 |
184 | S>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA345439820 rs779707997 RCV002534328 |
185 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV002561766 rs1659999781 |
186 | S>missing | No |
ClinVar dbSNP |
|
|
RCV002535991 rs1573883310 |
188 | N>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 188 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285653127 CA345439485 |
190 | T>A | No |
ClinGen TOPMed |
|
|
RCV002531461 CA345439458 rs1558399442 |
194 | A>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs201764931 RCV002543512 |
197 | I>L | No |
ClinVar dbSNP |
|
|
CA1478648 rs775099009 |
199 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1478646 rs767193939 |
200 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200796921 CA40329564 |
203 | V>G | No |
ClinGen Ensembl |
|
|
CA16610080 RCV002525540 rs1060500898 |
204 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1187596432 CA345439390 |
205 | E>A | No |
ClinGen gnomAD |
|
|
CA345439385 rs763183520 RCV002534719 |
206 | V>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1060500894 RCV002526398 CA16610111 COSM3385956 |
207 | L>P | pancreas [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
| TCGA novel | 209 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949267641 RCV002523295 CA16610109 |
210 | G>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA345439347 rs1270956851 |
212 | Q>H | No |
ClinGen gnomAD |
|
|
RCV002546129 rs1659995341 |
213 | K>R | No |
ClinVar dbSNP |
|
|
CA1478643 rs770141324 |
215 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 216 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345439316 rs1370459100 |
217 | A>T | No |
ClinGen TOPMed |
|
|
CA345439305 rs1553341345 RCV002527735 |
218 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs995196012 CA40329469 RCV002537007 |
219 | D>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA40329483 rs11545656 |
219 | D>Y | Hereditary leiomyomatosis and renal cell cancer (hlrcc) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1478638 rs758678272 |
220 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747135440 CA1478640 |
220 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747135440 CA1478639 |
220 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1478637 rs758678272 |
220 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1478636 rs745606057 |
222 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs886039364 RCV000255892 |
223 | K>missing | No |
ClinVar dbSNP |
|
| rs886039364 | 223 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1060500905 RCV002523296 CA16610057 |
224 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000599039 rs1553341337 |
225 | F>missing | No |
ClinVar dbSNP |
|
|
CA345439264 CA345439265 rs1270246282 |
225 | F>L | No |
ClinGen gnomAD |
|
|
CA345439269 rs1573883177 |
225 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 226 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001782932 rs11545658 CA16610075 |
227 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA345439251 rs1209612410 |
227 | Q>H | No |
ClinGen gnomAD |
|
|
rs753773918 CA1478633 |
228 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA345439249 rs1450533010 |
228 | I>V | No |
ClinGen Ensembl |
|
|
RCV002517212 rs863223967 CA323255 |
230 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV002561677 rs1659991322 |
231 | I>V | No |
ClinVar dbSNP |
|
|
rs727503929 CA233992 |
232 | G>E | No |
ClinGen Ensembl |
|
|
rs1231254705 CA345439225 |
232 | G>R | No |
ClinGen gnomAD |
|
|
rs878853695 CA10581783 RCV002518307 |
234 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA345439217 RCV002527738 rs372505976 |
234 | T>P | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
RCV002535932 CA345439208 rs919993170 |
235 | H>Q | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
RCV000482578 CA16617116 rs1064793126 |
236 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1478628 rs773382103 |
236 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA322037 rs1553341321 |
237 | Q>* | No |
ClinGen Ensembl |
|
|
rs1659989676 RCV002561866 |
238 | D>N | No |
ClinVar dbSNP |
|
|
CA345439182 rs1291740270 |
240 | V>L | No |
ClinGen gnomAD |
|
|
rs1349419396 RCV002561228 |
241 | P>A | No |
ClinVar dbSNP |
|
|
rs1349419396 CA345439174 |
241 | P>S | No |
ClinGen gnomAD |
|
|
CA345439153 rs1287444534 |
245 | G>R | No |
ClinGen TOPMed |
|
|
RCV000153236 rs727503928 |
246 | Q>missing | No |
ClinVar dbSNP |
|
|
RCV000200102 rs863223998 CA324662 |
246 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs201223034 CA1478614 |
247 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs200094834 CA1478613 |
248 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs777643800 CA1478612 |
249 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs951611697 CA40328262 |
250 | G>D | No |
ClinGen Ensembl |
|
|
rs1353871297 CA345439093 |
252 | V>I | No |
ClinGen gnomAD |
|
|
rs398123167 CA220387 RCV000078151 |
254 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1478607 rs751210164 |
258 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1044975651 CA40328249 |
259 | M>I | No |
ClinGen Ensembl |
|
|
rs1407485828 CA345439045 |
259 | M>T | No |
ClinGen gnomAD |
|
|
CA345439048 rs1343775223 |
259 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199829765 RCV002561890 |
262 | I>L | No |
ClinVar dbSNP |
|
|
rs863223981 RCV000195789 |
266 | M>missing | No |
ClinVar dbSNP |
|
|
CA345439005 rs754285771 |
266 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764648497 CA1478603 |
266 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1478604 rs754285771 |
266 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345438994 rs1415140301 |
267 | P>L | No |
ClinGen gnomAD |
|
|
rs1447662403 CA345438979 |
270 | Y>H | No |
ClinGen gnomAD |
|
|
RCV002554458 rs1659921742 |
280 | G>S | No |
ClinVar dbSNP |
|
|
CA345438910 rs1573881629 RCV002537286 |
282 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1659921346 RCV002551393 |
283 | L>S | No |
ClinVar dbSNP |
|
|
CA345438898 rs1240119974 |
284 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 284 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345438863 rs1189411374 |
289 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA40328127 rs771087739 |
292 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323449 rs1553341157 |
293 | V>D | No |
ClinGen Ensembl |
|
|
rs749029092 RCV002535465 CA1478597 |
293 | V>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1131691622 RCV000493606 |
294 | A>missing | No |
ClinVar dbSNP |
|
|
rs933479705 CA40328119 RCV002539534 |
296 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1245254230 CA345438807 |
297 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1573881563 RCV002537081 CA345438793 |
298 | A>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs201395553 COSM533675 CA40328116 |
298 | A>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs863223986 RCV000197901 |
299 | A>missing | No |
ClinVar dbSNP |
|
|
CA345438759 rs1457448744 |
301 | T>I | No |
ClinGen TOPMed |
|
|
rs1162334354 CA345438435 |
302 | G>A | No |
ClinGen gnomAD |
|
|
rs1659857790 RCV002568660 |
304 | P>S | No |
ClinVar dbSNP |
|
|
CA40327918 rs989876911 |
305 | F>L | No |
ClinGen TOPMed |
|
|
RCV002562620 rs1659857390 |
306 | V>I | No |
ClinVar dbSNP |
|
|
RCV002529843 rs1553341049 |
307 | T>missing | No |
ClinVar dbSNP |
|
|
RCV000199631 CA324175 rs863224001 |
313 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 313 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV002545624 rs1659856002 |
314 | A>G | No |
ClinVar dbSNP |
|
|
rs886042044 RCV000291565 |
315 | L>missing | No |
ClinVar dbSNP |
|
|
RCV002536030 rs1573880531 CA345438358 |
315 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs755449276 CA1478568 |
318 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs755449276 COSM210577 CA1478569 |
318 | H>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1659855240 RCV002563061 |
319 | D>G | No |
ClinVar dbSNP |
|
|
CA1478566 rs766441385 COSM906405 |
320 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1478565 rs763077972 |
321 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs201124581 CA40327913 |
325 | S>G | No |
ClinGen Ensembl |
|
|
RCV002515397 rs1553341038 CA320477 |
326 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002562441 rs1659854224 |
327 | A>V | No |
ClinVar dbSNP |
|
|
rs146816517 CA1478564 |
328 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146816517 CA1478563 |
328 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA40327911 rs200028270 RCV002527739 |
330 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs776313200 CA345438273 |
330 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1459131048 CA345438269 |
331 | T>A | No |
ClinGen gnomAD |
|
|
RCV002552513 rs1203364199 |
335 | L>V | No |
ClinVar dbSNP |
|
|
CA40327909 rs201652136 |
337 | K>R | No |
ClinGen 1000Genomes |
|
|
rs775639021 CA1478560 |
340 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11545655 CA40327908 |
341 | D>H | No |
ClinGen Ensembl |
|
|
rs11545655 RCV002274031 CA16610053 |
341 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553341026 RCV001784208 |
343 | R>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 344 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345438176 rs1553341024 RCV002529842 |
346 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA345438166 RCV002537274 rs1573880377 |
347 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1478556 rs781411095 |
348 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 348 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345438149 rs1254962869 |
349 | P>S | No |
ClinGen TOPMed |
|
|
rs766918221 RCV002537310 CA1478554 |
351 | S>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA345438128 rs1060500896 |
351 | S>L | No |
ClinGen gnomAD |
|
|
rs766918221 RCV002553264 |
351 | S>T | No |
ClinVar dbSNP |
|
|
RCV002543724 rs1659850534 |
352 | G>D | No |
ClinVar dbSNP |
|
|
CA40327906 rs1027877625 |
357 | I>L | No |
ClinGen TOPMed |
|
|
RCV002543042 rs1391140770 |
357 | I>M | No |
ClinVar dbSNP |
|
|
rs918902822 CA345438048 |
358 | L>V | No |
ClinGen TOPMed |
|
|
rs1659849280 RCV002546813 |
361 | N>K | No |
ClinVar dbSNP |
|
|
RCV002537079 CA345437965 rs1483975363 |
363 | P>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1558397685 CA345437914 |
367 | I>V | No |
ClinGen Ensembl |
|
|
rs863223987 CA323289 RCV000198761 |
368 | M>IL | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV002533196 rs1553340894 CA345437719 |
370 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1060500904 RCV001782934 |
371 | K>missing | No |
ClinVar dbSNP |
|
|
rs1553340891 CA321448 |
371 | K>R | No |
ClinGen Ensembl |
|
|
rs1368699396 CA345437682 |
372 | V>G | No |
ClinGen gnomAD |
|
|
rs1433607345 CA345437674 |
373 | N>H | No |
ClinGen gnomAD |
|
|
RCV002563071 rs542014575 |
373 | N>K | No |
ClinVar dbSNP |
|
|
rs1553340884 RCV002527717 |
373 | N>missing | No |
ClinVar dbSNP |
|
|
CA345437647 rs876660446 |
374 | P>S | No |
ClinGen gnomAD |
|
|
rs1573879366 CA345437634 RCV002534613 |
375 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1659809804 RCV001780246 |
375 | T>I | No |
ClinVar dbSNP |
|
|
RCV001784319 rs781466938 |
379 | A>* | No |
ClinVar dbSNP |
|
|
rs863223988 RCV000199986 |
380 | M>missing | No |
ClinVar dbSNP |
|
|
RCV000198172 rs863224006 CA322667 |
382 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs758927661 CA1478536 |
383 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs750447792 CA1478535 |
386 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1659806898 RCV002546833 |
390 | N>K | No |
ClinVar dbSNP |
|
|
CA321926 rs863223974 |
390 | N>Y | No |
ClinGen gnomAD |
|
|
rs1659806824 RCV002561091 |
391 | H>P | No |
ClinVar dbSNP |
|
|
rs1659806431 RCV002545023 |
393 | A>missing | No |
ClinVar dbSNP |
|
|
rs1455198803 CA345437410 |
393 | A>V | No |
ClinGen TOPMed |
|
|
RCV002519778 CA10581782 rs878853690 |
395 | T>I | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs753996659 CA1478532 |
396 | V>L | No |
ClinGen ExAC |
|
|
rs1659805662 RCV002554511 |
399 | S>N | No |
ClinVar dbSNP |
|
|
rs398123162 RCV000078143 |
400 | N>missing | No |
ClinVar dbSNP |
|
|
RCV002536351 rs1558397011 |
402 | H>missing | No |
ClinVar dbSNP |
|
|
rs767500963 CA1478528 |
407 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs767500963 CA345437280 |
407 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1478527 rs759548413 |
408 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1338260755 CA345437266 |
408 | F>Y | No |
ClinGen gnomAD |
|
|
RCV002552545 rs774493741 |
409 | K>N | No |
ClinVar dbSNP |
|
|
RCV002523907 RCV000412803 CA16042326 rs1057517735 |
410 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV002555830 rs1057517735 |
410 | P>R | No |
ClinVar dbSNP |
|
|
RCV002538131 rs1573879248 CA345437209 |
412 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV002543133 rs1573878145 |
414 | K>E | No |
ClinVar dbSNP |
|
|
rs1659748903 RCV001269356 |
415 | N>D | No |
ClinVar dbSNP |
|
|
RCV000497497 CA345436902 rs1553340709 |
417 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV002527718 rs1553340708 |
418 | H>missing | No |
ClinVar dbSNP |
|
|
rs766377516 RCV002543763 |
420 | A>D | No |
ClinVar dbSNP |
|
|
RCV000196430 rs863223989 |
421 | R>missing | No |
ClinVar dbSNP |
|
|
RCV002547035 rs1659748055 |
421 | R>G | No |
ClinVar dbSNP |
|
|
CA40327546 rs777409218 CA345436851 RCV003103925 |
421 | R>S | No |
ClinGen gnomAD ClinVar dbSNP |
|
|
rs1659747962 RCV003103915 |
421 | R>T | No |
ClinVar dbSNP |
|
|
rs899743834 CA40327545 |
424 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 424 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA40327544 rs1038324354 |
425 | D>G | No |
ClinGen Ensembl |
|
|
CA345436816 COSM1690050 rs1228511377 |
425 | D>H | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1228511377 CA345436818 |
425 | D>N | No |
ClinGen gnomAD |
|
|
RCV002528324 rs1553340703 CA345436795 |
426 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 426 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201644919 CA1478485 |
428 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV002534456 rs1558396375 CA345436760 |
429 | S>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV002567910 CA345436739 rs1315943292 |
431 | T>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA40327542 rs200121326 |
433 | N>Y | No |
ClinGen Ensembl |
|
|
RCV000413968 rs2070080 CA16042384 |
434 | C>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1659745968 RCV002563095 |
434 | C>R | No |
ClinVar dbSNP |
|
|
rs982483795 CA40327541 |
435 | V>E | No |
ClinGen Ensembl |
|
|
CA345436664 rs1324526971 RCV002529845 |
436 | V>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA320930 rs1553340690 |
439 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs945101483 CA40327540 |
441 | N>K | No |
ClinGen TOPMed |
|
|
rs1357584529 RCV002529846 CA345436593 |
441 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV002553820 CA1478479 rs771503401 |
442 | T>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1060500899 CA345436577 |
442 | T>I | No |
ClinGen TOPMed |
|
|
CA322853 rs1553340687 RCV001781573 |
443 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1573878004 RCV002537451 |
445 | I>missing | No |
ClinVar dbSNP |
|
|
CA345436537 rs1190517872 |
445 | I>F | No |
ClinGen gnomAD |
|
|
CA1478476 rs756326120 |
447 | K>T | No |
ClinGen ExAC |
|
|
RCV002526399 rs1060500903 |
449 | M>missing | No |
ClinVar dbSNP |
|
|
rs199664825 CA1478474 |
449 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs863223990 RCV000200843 |
450 | N>missing | No |
ClinVar dbSNP |
|
|
RCV002553223 rs1659742832 |
450 | N>D | No |
ClinVar dbSNP |
|
|
CA345436446 RCV001784332 rs1558396320 |
451 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751400708 CA1478472 |
451 | E>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000197139 rs863223991 |
453 | L>missing | No |
ClinVar dbSNP |
|
|
COSM1296079 rs1218102979 CA345436414 |
453 | L>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1478471 rs766177929 RCV002538025 |
454 | M>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1353763695 CA345436396 |
454 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 457 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1478470 rs758370443 |
458 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1466657268 CA345436290 |
462 | H>R | No |
ClinGen gnomAD |
|
|
rs764801019 CA1478468 |
463 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA345436281 rs1558396291 |
463 | I>V | No |
ClinGen Ensembl |
|
|
CA1478443 rs775067487 |
465 | Y>D | No |
ClinGen ExAC |
|
|
rs863223993 RCV000200182 |
468 | A>missing | No |
ClinVar dbSNP |
|
|
CA1478442 rs766749545 |
468 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1659667519 RCV002541874 |
471 | I>F | No |
ClinVar dbSNP |
|
|
rs765643179 RCV002547565 |
472 | A>D | No |
ClinVar dbSNP |
|
|
CA345450899 rs1254892371 |
473 | K>E | No |
ClinGen gnomAD |
|
|
rs1202960869 CA345450797 |
476 | H>P | No |
ClinGen TOPMed |
|
|
CA345450802 rs1484545927 |
476 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs547519260 CA40371721 |
477 | K>Q | No |
ClinGen Ensembl |
|
|
CA1478440 rs761934894 |
477 | K>R | No |
ClinGen ExAC gnomAD |
|
|
RCV002553784 rs761934894 |
477 | K>T | No |
ClinVar dbSNP |
|
|
rs547519260 RCV002561188 |
477 | K>E | No |
ClinVar dbSNP |
|
| TCGA novel | 478 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1478438 rs201886827 |
478 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345450709 RCV001784440 rs1573876584 |
479 | G>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs863223994 RCV000199224 |
480 | S>missing | No |
ClinVar dbSNP |
|
|
CA345450684 rs1261707355 |
481 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs747250739 CA1478437 |
481 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs863223979 CA322922 RCV000198419 |
482 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs398123165 RCV000078147 |
484 | E>missing | No |
ClinVar dbSNP |
|
|
rs1391195810 CA345450577 |
487 | I>F | No |
ClinGen TOPMed |
|
|
COSM464229 CA345450573 rs1391195810 |
487 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1553340515 RCV002527723 CA345450517 |
490 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1558395446 RCV002532863 CA345450445 |
493 | T>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV002533198 rs752369363 CA345450421 |
494 | A>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 494 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1060500907 RCV002523297 |
495 | E>missing | No |
ClinVar dbSNP |
|
|
CA345450387 rs1553340506 RCV000521079 |
496 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV003104022 rs1659662318 |
499 | E>missing | No |
ClinVar dbSNP |
|
|
RCV002523293 rs1060500895 |
503 | P>missing | No |
ClinVar dbSNP |
|
|
CA1478423 RCV002543824 rs762413315 |
506 | M>V | No |
ClinGen ClinVar ExAC dbSNP |
|
|
CA345450005 rs1425094515 |
507 | L>Q | No |
ClinGen gnomAD |
|
|
RCV002562986 rs1659661545 |
508 | G>R | No |
ClinVar dbSNP |
No associated diseases with P07954
1 regional properties for P07954
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Nucleotide exchange factor Fes1 | 1 - 82 | IPR013918 |
Functions
| Description | ||
|---|---|---|
| EC Number | 4.2.1.2 | Hydro-lyases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
| tricarboxylic acid cycle enzyme complex | Any of the heteromeric enzymes that act in the TCA cycle. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| fumarate hydratase activity | Catalysis of the reaction: (S)-malate = fumarate + H(2)O. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage 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 indicating damage to its DNA from environmental insults or errors during metabolism. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| fumarate metabolic process | The chemical reactions and pathways involving fumarate, the anion of trans-1,2-ethenedicarboxylic acid, the diastereoisomer of maleate. It is a key intermediate in metabolism and is formed in the TCA cycle from succinate and converted into malate. |
| homeostasis of number of cells within a tissue | Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue. |
| malate metabolic process | The chemical reactions and pathways involving malate, the anion of hydroxybutanedioic acid, a chiral hydroxydicarboxylic acid. The (+) enantiomer is an important intermediate in metabolism as a component of both the TCA cycle and the glyoxylate cycle. |
| negative regulation of histone H3-K36 methylation | Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 36 of histone H3. |
| positive regulation of cold-induced thermogenesis | Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis. |
| positive regulation of double-strand break repair via nonhomologous end joining | Any process that activates or increases the frequency, rate or extent of double-strand break repair via nonhomologous end joining. |
| regulation of arginine metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving arginine, 2-amino-5-(carbamimidamido)pentanoic acid. |
| tricarboxylic acid cycle | A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle. |
| urea cycle | The sequence of reactions by which arginine is synthesized from ornithine, then cleaved to yield urea and regenerate ornithine. The overall reaction equation is NH3 + CO2 + aspartate + 3 ATP + 2 H2O = urea + fumarate + 2 ADP + 2 phosphate + AMP + diphosphate. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P97807 | Fh | Fumarate hydratase, mitochondrial | Mus musculus (Mouse) | PR |
| P14408 | Fh | Fumarate hydratase, mitochondrial | Rattus norvegicus (Rat) | PR |
| O17214 | fum-1 | Probable fumarate hydratase, mitochondrial | Caenorhabditis elegans | PR |
| Q9FI53 | FUM2 | Fumarate hydratase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q7SX99 | fh | Fumarate hydratase, mitochondrial | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MYRALRLLAR | SRPLVRAPAA | ALASAPGLGG | AAVPSFWPPN | AARMASQNSF | RIEYDTFGEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KVPNDKYYGA | QTVRSTMNFK | IGGVTERMPT | PVIKAFGILK | RAAAEVNQDY | GLDPKIANAI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MKAADEVAEG | KLNDHFPLVV | WQTGSGTQTN | MNVNEVISNR | AIEMLGGELG | SKIPVHPNDH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VNKSQSSNDT | FPTAMHIAAA | IEVHEVLLPG | LQKLHDALDA | KSKEFAQIIK | IGRTHTQDAV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PLTLGQEFSG | YVQQVKYAMT | RIKAAMPRIY | ELAAGGTAVG | TGLNTRIGFA | EKVAAKVAAL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TGLPFVTAPN | KFEALAAHDA | LVELSGAMNT | TACSLMKIAN | DIRFLGSGPR | SGLGELILPE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NEPGSSIMPG | KVNPTQCEAM | TMVAAQVMGN | HVAVTVGGSN | GHFELNVFKP | MMIKNVLHSA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RLLGDASVSF | TENCVVGIQA | NTERINKLMN | ESLMLVTALN | PHIGYDKAAK | IAKTAHKNGS |
| 490 | 500 | ||||
| TLKETAIELG | YLTAEQFDEW | VKPKDMLGPK |