Q12879
PR
Gene name |
GRIN2A (NMDAR2A) |
Protein name |
Glutamate receptor ionotropic, NMDA 2A |
Names |
GluN2A, Glutamate [NMDA] receptor subunit epsilon-1, N-methyl D-aspartate receptor subtype 2A, NMDAR2A, NR2A, hNR2A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2903 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
23 structures for Q12879
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3NFL | X-ray | 191 A | E/F/G/H | 1449-1464 | PDB |
| 5H8F | X-ray | 181 A | PDB | ||
| 5H8H | X-ray | 223 A | PDB | ||
| 5H8N | X-ray | 250 A | PDB | ||
| 5H8Q | X-ray | 190 A | PDB | ||
| 5I2K | X-ray | 286 A | PDB | ||
| 5I2N | X-ray | 212 A | PDB | ||
| 5KCJ | X-ray | 209 A | PDB | ||
| 5KDT | X-ray | 244 A | PDB | ||
| 5TP9 | X-ray | 240 A | PDB | ||
| 5TPA | X-ray | 248 A | PDB | ||
| 6IRA | EM | 450 A | B/D | 1-842 | PDB |
| 6IRF | EM | 510 A | B/D | 1-841 | PDB |
| 6IRG | EM | 550 A | B/D | 1-841 | PDB |
| 6IRH | EM | 780 A | B/D | 1-841 | PDB |
| 7EOQ | EM | 410 A | A/C | 1-842 | PDB |
| 7EOR | EM | 400 A | A/C | 1-842 | PDB |
| 7EOS | EM | 390 A | A/C | 1-842 | PDB |
| 7EOT | EM | 380 A | A/C | 1-842 | PDB |
| 7EOU | EM | 430 A | A/C | 1-842 | PDB |
| 7EU7 | EM | 350 A | B/D | 1-841 | PDB |
| 8E99 | EM | 424 A | B | 30-851 | PDB |
| AF-Q12879-F1 | Predicted | AlphaFoldDB |
1645 variants for Q12879
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000074387 rs397518466 |
1 | M>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795964 rs1596587600 CA394715900 |
4 | V>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000084751 rs367543131 RCV000697889 CA225871 |
13 | P>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2050242587 RCV001175147 |
17 | V>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7897059 RCV001351082 rs768469157 |
19 | R>C | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1285592726 CA394715806 RCV000931531 |
21 | P>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001221730 rs749314552 CA7897056 |
21 | P>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001333571 rs775540481 |
23 | P>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000822999 rs1596587476 |
23 | P>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000187633 rs751198815 RCV000545221 CA314929 |
26 | A>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7897050 RCV001058553 RCV000835714 rs765986049 |
26 | A>V | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001865480 RCV000484425 rs767188122 |
28 | E>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7897046 RCV000274951 rs146839931 |
28 | E>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002536519 RCV000734427 rs1567354651 CA394715751 |
30 | G>D | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002375317 rs199942034 RCV002541606 CA277615946 RCV001263310 |
31 | P>S | Intellectual disability Variant assessed as Somatic; impact. Landau-Kleffner syndrome Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001855316 rs1555491538 RCV001420305 RCV000624673 |
33 | A>missing | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001115422 rs2050238895 |
42 | H>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2050238313 RCV001211384 |
46 | V>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796052542 RCV001234576 RCV000187634 CA314931 |
46 | V>M | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1413736970 CA394715634 RCV000802443 |
49 | R>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1057521810 CA16607095 RCV000445092 RCV001782904 |
55 | W>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001034327 CA7897036 rs769971551 |
56 | G>V | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001318539 RCV000424997 CA7897034 rs143833346 COSM1375745 |
58 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine Landau-Kleffner syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
CA7897031 rs758117698 COSM269276 RCV000705679 |
60 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine Landau-Kleffner syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs2050235998 RCV001253076 |
61 | A>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322519 rs764026892 CA7897026 |
70 | V>I | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000498896 RCV001857023 rs775422876 CA7897023 |
73 | L>M | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394715452 VAR_070345 RCV001782995 RCV000656053 rs1250662891 |
79 | P>R | Landau-Kleffner syndrome Childhood epilepsy with centrotemporal spikes FESD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA277615758 RCV000989529 rs1006328489 |
84 | T>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001227607 rs2050232660 |
90 | M>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394715360 rs1282664179 RCV001298761 |
94 | R>C | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1282664179 RCV001034198 |
94 | R>G | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7897008 RCV000639589 rs74853460 RCV002529980 |
96 | H>Q | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000800699 rs1596586969 CA394715335 |
98 | L>F | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596586938 CA394715292 RCV000804366 |
104 | T>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA204473 RCV000190515 rs797045015 |
105 | D>G | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2050229149 RCV001235046 |
120 | T>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA277615500 rs376125239 RCV000678802 |
122 | V>F | Pyridoxine-dependent epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2050228721 RCV001298836 |
123 | P>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs77288930 CA277615495 RCV001034341 |
133 | M>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000809920 rs776317814 CA7896954 |
140 | P>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001078919 CA7896953 RCV002527567 COSM2141676 RCV000522946 rs142566406 |
140 | P>L | central_nervous_system Landau-Kleffner syndrome Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001040629 rs776317814 |
140 | P>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7896951 RCV000814349 rs78631453 RCV002318326 |
141 | T>K | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs78631453 RCV000300786 RCV000187623 RCV000711851 RCV002314718 CA314914 |
141 | T>M | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000795346 rs763500409 RCV002334479 CA7896944 |
156 | T>M | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA394799390 rs1555455805 RCV001215292 RCV000658434 |
159 | L>P | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16608367 RCV000438586 rs1057524089 RCV000546009 |
163 | Q>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394799275 rs1433795312 RCV001217307 |
166 | D>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM106428 RCV000117178 CA153033 RCV000989528 RCV000711852 RCV002313887 VAR_067726 RCV000656052 rs587780353 |
183 | F>I | NS Landau-Kleffner syndrome Childhood epilepsy with centrotemporal spikes Inborn genetic diseases found in a cutaneous malignant melanoma sample; somatic mutation; also found in a patient with benign epilepsy with centrotemporal spike [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_070346 | 184 | I>S | FESD; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001595028 RCV000639583 rs751692867 CA7896930 RCV000623157 |
187 | V>I | Landau-Kleffner syndrome Variant assessed as Somatic; 9.249e-05 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001043570 rs1377082706 VAR_079930 CA394798987 |
189 | T>N | Landau-Kleffner syndrome found in a patient with schizophrenia; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002348058 CA10638810 rs886051634 RCV000392799 |
190 | T>A | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA278194587 RCV001314287 rs901580617 |
196 | V>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555455727 CA394798931 RCV001330049 |
198 | W>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001351328 CA394798925 rs1200624532 |
199 | D>N | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002362736 RCV000703188 rs367543124 RCV000194289 CA208372 RCV000084744 |
208 | T>I | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001781552 rs796052560 RCV000187672 |
210 | F>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1396813794 CA394798839 RCV000694641 |
212 | D>N | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2044765102 RCV001346189 |
213 | A>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000022584 CA128600 rs387906637 |
218 | Q>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs61731464 CA288902 RCV002313889 RCV000117188 RCV000354436 |
221 | K>R | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001319086 rs996900968 |
230 | Y>F | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001782994 RCV000656051 CA394798706 VAR_070347 rs1238779318 |
231 | C>Y | Landau-Kleffner syndrome Childhood epilepsy with centrotemporal spikes FESD; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar TOPMed dbSNP UniProt |
|
rs2044763223 RCV001192665 |
235 | E>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_070348 | 243 | A>V | FESD; results in reduced high-affinity zinc mediated inhibition [UniProt] | Yes | UniProt |
|
rs2044762657 RCV001260639 |
244 | R>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7896907 RCV001120323 RCV002282350 rs555768104 RCV000733007 COSM556776 |
246 | L>I | lung Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs747214620 COSM180470 CA7896898 RCV000700262 |
265 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine Landau-Kleffner syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001037963 rs2044759670 |
275 | G>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2044759550 RCV001338362 |
276 | L>P | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7896889 rs376979811 RCV001036970 |
277 | I>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1351708359 CA394798400 RCV001270869 |
279 | V>I | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001237105 CA394798357 rs1555455618 |
284 | W>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555455620 RCV001223817 CA394798362 |
284 | W>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001042230 rs1016685456 CA278194573 |
285 | D>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000497713 RCV001865574 rs1555455615 CA394798339 |
287 | S>G | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199528312 RCV000187630 VAR_070349 CA314926 RCV000989527 |
290 | A>V | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome FESD [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001223202 rs568484876 |
295 | G>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7896884 RCV000639584 RCV001816592 RCV002369668 VAR_070350 rs568484876 |
295 | G>S | Landau-Kleffner syndrome Inborn genetic diseases FESD; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA278194571 RCV000639577 rs953400144 |
296 | I>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA278194570 rs775591257 RCV002312435 |
297 | G>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000816728 CA394798250 rs901717931 |
302 | A>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs901717931 COSM180469 RCV002318685 CA278194568 RCV000820732 |
302 | A>T | pancreas large_intestine Landau-Kleffner syndrome stomach Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000814520 rs1596344343 CA394798231 |
305 | S>C | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778386295 RCV000992091 RCV000812539 CA7896879 |
306 | M>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001296287 rs754698963 |
311 | S>F | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2044756352 RCV001204033 |
312 | Y>D | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7896870 rs765104792 RCV001238618 |
315 | E>K | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7896869 RCV000862897 RCV000607820 rs141326581 |
317 | K>Q | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394798148 RCV000686801 rs1567186996 |
318 | A>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs374637415 CA7896865 RCV001205412 |
322 | G>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2044755009 RCV001038616 |
323 | Q>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809579 rs1596344233 CA394798106 |
324 | M>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000347315 CA7896864 rs771168389 |
327 | P>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA225851 rs367543120 RCV000084740 RCV001034256 |
330 | P>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7896854 RCV001288625 RCV002541788 rs757262372 |
336 | P>L | Variant assessed as Somatic; 9.284e-05 impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001372971 VAR_079931 RCV000187632 CA314927 rs148511104 |
336 | P>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2043686499 RCV001121956 |
338 | M>K | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777505684 CA7896835 RCV000702243 |
344 | D>H | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2043685576 RCV001175145 |
352 | E>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000707521 rs373239575 CA7896832 |
353 | E>K | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001034263 rs78929970 RCV000728016 CA278188161 RCV000613526 |
357 | V>M | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs763315364 CA7896831 RCV000809095 |
358 | H>Q | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001330041 rs2043684301 |
363 | V>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2043683703 RCV001316600 |
370 | R>Q | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_070351 CA7896825 rs761168789 |
370 | R>W | FESD [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA7896795 rs746834456 RCV000480663 RCV001368694 |
375 | V>M | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000272860 RCV000612927 RCV002522904 rs757464009 CA7896793 |
381 | H>Y | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003153781 CA394801261 rs1555496181 RCV000639580 |
390 | W>C | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2042851617 RCV001220196 |
402 | D>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2042851567 RCV001210155 |
402 | D>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2042850660 RCV001228341 |
416 | F>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749504561 CA394801080 RCV002318321 |
417 | V>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM472251 rs749504561 RCV000470104 CA7896776 |
417 | V>I | kidney Landau-Kleffner syndrome Variant assessed as Somatic; 4.619e-05 impact. breast [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001323819 RCV000730547 CA278182625 rs372628324 |
422 | I>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1596494678 RCV000792826 |
422 | I>VKVPWK | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879253760 RCV002286727 RCV000234913 |
424 | P>* | Intellectual disability Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7896769 RCV001091976 RCV000794220 rs375260513 |
424 | P>H | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003114372 CA358223 RCV000210702 rs375260513 |
424 | P>L | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001782993 RCV000656048 CA394800960 rs1555496111 VAR_070352 RCV001091975 |
436 | C>R | Landau-Kleffner syndrome Childhood epilepsy with centrotemporal spikes FESD; decreased protein abundance; loss of localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate potency and decreased glycine potency [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs770071260 RCV001171503 RCV002269340 CA7896760 |
437 | R>Q | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2042848665 RCV001330042 |
438 | K>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752012396 RCV000269473 CA10648502 |
439 | F>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000690173 rs903996899 CA278182620 |
441 | K>N | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2042847762 RCV001119968 |
442 | I>M | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394800918 rs1596494610 RCV000989526 |
443 | N>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs747167014 CA7896739 RCV001223856 |
444 | N>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA225899 rs367543145 RCV001034014 RCV000084765 |
447 | N>I | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs779989663 CA7896738 RCV001069604 |
447 | N>K | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA278181488 rs368026708 RCV000730548 RCV002536449 |
448 | E>K | Variant assessed as Somatic; impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP |
|
RCV001337684 rs2042669462 |
450 | M>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001084905 RCV000187635 CA314933 rs145956175 VAR_079932 RCV000726971 RCV002314719 |
452 | V>M | Landau-Kleffner syndrome Inborn genetic diseases no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate potency [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000678803 RCV000693871 rs1567337914 CA394800772 |
461 | I>N | Landau-Kleffner syndrome Childhood epilepsy with centrotemporal spikes [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001253355 rs2042668320 |
467 | L>H | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752320310 RCV001220789 |
470 | T>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2042667786 RCV001324876 |
473 | F>C | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2042667786 RCV001234040 |
473 | F>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2042667439 RCV001229045 |
478 | Y>C | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_070353 RCV001031008 rs2042667149 |
483 | G>R | Landau-Kleffner syndrome FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000808480 CA394800529 rs1596483730 RCV002508259 |
497 | I>F | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000762190 CA394800523 RCV002290010 rs749732928 |
498 | G>D | Variant assessed as Somatic; impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs757713617 RCV001209558 |
498 | G>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001171608 CA394800471 rs1331671132 |
504 | R>Q | Neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_070354 rs1360906241 RCV002245677 COSM1208970 RCV000806105 CA394800472 |
504 | R>W | large_intestine Variant assessed as Somatic; impact. central_nervous_system Landau-Kleffner syndrome FESD; decreased protein abundance; decreased localization to the cell membrane; no significant effect on calcium ion transmembrane import into cytosol [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
VAR_079933 CA314935 rs796052543 RCV000187636 |
506 | V>A | FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate potency [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs368188808 CA278181468 RCV001330043 |
506 | V>I | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
COSM1708747 RCV001326955 CA278181465 RCV001570463 rs267604688 |
511 | S>L | large_intestine Variant assessed as Somatic; impact. skin Landau-Kleffner syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA16620325 RCV001851273 RCV000486634 rs1064796950 |
513 | T>I | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394800391 RCV001235339 rs1555494686 |
517 | E>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2042659440 RCV001064199 |
517 | E>D | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001781553 CA315005 RCV000187674 rs747838255 |
518 | R>C | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397518470 CA145318 VAR_070355 RCV000379543 RCV000074391 |
518 | R>H | Landau-Kleffner syndrome FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by affected receptor kinetics [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397518470 CA394800382 RCV000687870 |
518 | R>L | Variant assessed as Somatic; impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
VAR_070356 COSM180453 CA145316 RCV000074389 RCV001557828 rs397518468 |
531 | T>M | large_intestine Variant assessed as Somatic; impact. Landau-Kleffner syndrome FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by affected receptor kinetics [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000489886 RCV001782975 rs1085307961 CA394800293 |
532 | G>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000656047 rs1555494676 |
547 | S>missing | Childhood epilepsy with centrotemporal spikes [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_070357 | 547 | S>del | FESD [UniProt] | Yes | UniProt |
|
RCV000441942 CA16607161 RCV001782905 rs1057523843 |
548 | A>P | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_070358 | 548 | A>T | FESD; no effect on localization to the cell membrane; loss of glutamate-gated calcium ion channel activity [UniProt] | Yes | UniProt |
|
RCV000794560 rs1596483044 |
549 | F>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000623435 CA394800172 rs1555494671 |
551 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001091973 rs397518450 RCV000032867 CA130442 VAR_069382 |
552 | P>R | Landau-Kleffner syndrome FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate and glycine potency with delay in rise time and slower deactivation time course [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1596476657 CA394800131 RCV001858504 RCV000851496 |
554 | S>R | Intellectual disability Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001260637 rs2042547937 |
555 | A>S | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000639585 CA394800109 rs1555493585 |
558 | W>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1476673300 RCV001205706 CA394800104 RCV000516783 |
559 | V>M | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1057519248 RCV002468574 RCV000416220 |
561 | M>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001782756 rs886039604 RCV000255631 |
564 | M>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503228 RCV000473955 CA16615062 |
578 | Y>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002318778 rs777029084 CA7896646 RCV002534937 |
580 | S>G | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394799956 rs1567332765 RCV002317595 |
580 | S>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394799931 RCV000807539 rs1596476519 COSM361833 |
584 | Y>C | lung Landau-Kleffner syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs768958947 RCV002064691 RCV000872086 CA7896645 |
586 | R>K | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA7896644 RCV000791582 rs563779542 |
590 | K>N | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000084760 rs367543140 CA225889 RCV000530708 |
594 | P>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001252253 rs2042451238 |
596 | G>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs869312916 RCV001330044 RCV000210655 CA358154 |
614 | N>S | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397518447 CA128602 VAR_065899 RCV000022585 |
615 | N>K | Landau-Kleffner syndrome FESD; the mutant receptor has decreased calcium permeability; shows a dominant-negative effect [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000639593 rs1555492769 CA394799494 |
634 | W>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2042448930 RCV001202493 |
635 | A>D | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001780221 RCV001266902 rs2042449005 |
635 | A>T | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394799428 RCV000679998 rs1567329011 |
638 | A>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs796052562 RCV003223530 |
642 | L>M | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001266634 rs2042448519 |
642 | L>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879253875 RCV000236367 CA10584094 |
643 | A>D | Dystonia, intellectual disability and language impairment [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs796052544 RCV001785401 |
644 | S>G | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394799342 rs1555492758 RCV000578290 |
646 | T>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2042447850 RCV001089991 |
647 | A>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000187638 rs796052545 RCV001781548 CA314939 |
648 | N>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA130441 RCV000032866 rs397514557 VAR_069383 |
649 | L>V | Landau-Kleffner syndrome FESD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001321605 rs2042447713 |
650 | A>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_070359 CA145319 rs397518471 RCV000074392 |
652 | F>V | Landau-Kleffner syndrome FESD; affects receptor kinetics [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2042447540 RCV001576146 RCV001211099 |
654 | I>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2042447316 RCV001039879 |
657 | E>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_070360 | 669 | K>N | FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate and glycine potency [UniProt] | Yes | UniProt |
|
rs1555491685 RCV001239408 |
672 | R>G | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs910115733 CA278179185 RCV001315731 |
674 | H>Q | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7896593 RCV002418504 rs75130648 RCV002282443 RCV001057644 |
675 | D>A | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000260469 CA145320 COSM177417 RCV000074393 rs397518472 |
681 | R>* | large_intestine Variant assessed as Somatic; impact. Landau-Kleffner syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001253617 rs753203288 CA7896591 RCV001255353 |
681 | R>Q | Intellectual disability Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs796052547 RCV001781549 CA314943 RCV000187640 |
684 | T>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs796052548 RCV000187641 VAR_079935 CA314945 |
685 | V>G | FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1445802934 RCV002274166 RCV001260638 |
690 | T>K | Intellectual disability Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000585851 RCV000624530 CA394797877 rs1445802934 RCV001375043 RCV000513348 |
690 | T>M | Landau-Kleffner syndrome Neurodevelopmental disorder Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2042303226 RCV001290247 |
693 | N>D | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_070361 | 694 | I>T | FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency and decreased open probability [UniProt] | Yes | UniProt |
|
CA315009 RCV001253314 RCV001778779 rs1555491654 |
695 | R>Q | Variant assessed as Somatic; impact. Landau-Kleffner syndrome Neurodevelopmental disorder [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM1719008 rs1555491648 VAR_070362 RCV000656046 CA394797815 RCV001782992 |
699 | P>S | NS Variant assessed as Somatic; impact. Landau-Kleffner syndrome Childhood epilepsy with centrotemporal spikes FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate potency and decreased open probability [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
| VAR_070363 | 705 | M>V | FESD; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency and decreased open probability [UniProt] | Yes | UniProt |
|
RCV001218215 rs1555491635 |
712 | G>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001782889 rs1057518070 RCV000413937 CA16043098 |
713 | V>G | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_070364 | 714 | E>K | FESD; decreased protein abundance; no effect on localization to the cell membrane; no significant effect on calcium ion transmembrane import into cytosol [UniProt] | Yes | UniProt |
|
rs2042301516 RCV001266802 |
715 | D>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_078110 rs1057519552 CA16044331 RCV000416976 |
716 | A>D | Landau-Kleffner syndrome FESD; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs762659685 VAR_070365 CA314947 |
716 | A>T | FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA7896586 RCV001079576 rs376029542 RCV002429230 RCV000726029 |
722 | T>M | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001043528 rs1903139235 |
725 | L>P | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_070366 CA394797328 RCV000996205 RCV001360564 RCV000656045 COSM705238 rs1555488144 |
727 | A>T | lung Variant assessed as Somatic; impact. Landau-Kleffner syndrome Childhood epilepsy with centrotemporal spikes FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency and decreased open probability [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000488007 RCV001851290 rs773358718 CA16621685 |
728 | F>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1903138230 RCV001175146 |
730 | Y>C | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796052549 RCV000187643 CA314948 VAR_070367 RCV001781550 |
731 | D>N | Variant assessed as Somatic; impact. Landau-Kleffner syndrome FESD; decreased protein abundance; decreased localization to the cell membrane; decreased glutamate-gated calcium ion channel activity characterized by drastically decreased glutamate agonist potency, decreased glycine agonist potency, reduced amplitude of current response, shortened synaptic-like response time course, decreased channel open probability and enhanced sensitivity to negative allosteric modulators [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000639588 rs796052550 CA314949 RCV000187644 |
733 | A>T | Variant assessed as Somatic; impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
VAR_070368 rs1439688451 RCV000656044 CA394797281 |
734 | V>L | Childhood epilepsy with centrotemporal spikes FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency [ClinVar, UniProt] | Yes |
ClinGen ClinVar dbSNP gnomAD UniProt |
|
rs1903135567 RCV001253642 |
741 | R>G | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3937226 RCV002469190 RCV003128410 rs1555488119 CA394797109 RCV000544675 |
760 | G>S | oesophagus Variant assessed as Somatic; impact. Landau-Kleffner syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001345400 rs1903130042 |
763 | I>M | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_070369 | 772 | K>E | FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency and decreased open probability [UniProt] | Yes | UniProt |
|
RCV001252735 rs748291723 CA7896544 |
775 | I>M | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776791010 RCV001224720 |
776 | D>Y | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1903126465 RCV001253479 |
779 | L>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001262726 rs1555488084 |
779 | L>W | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA277546588 RCV001230424 rs893189529 RCV001760228 |
793 | T>I | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555483728 RCV001262220 CA394710270 |
795 | W>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000479794 RCV001782970 rs1064795647 CA16620323 |
809 | S>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_072750 | 812 | L>M | FESD; increase in receptor response to agonists; decrease in the actions of endogenous negative modulators; increase in channel open probability; prolonged deactivation time course [UniProt] | Yes | UniProt |
|
rs780654733 CA7896511 RCV001501303 VAR_070370 RCV000656043 RCV000471487 |
814 | I>T | Landau-Kleffner syndrome Childhood epilepsy with centrotemporal spikes FESD; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs754929310 RCV000703773 CA7896510 |
815 | D>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000479309 RCV001782971 CA16620322 rs1064796608 |
817 | M>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000989525 CA394710109 rs1064796608 |
817 | M>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000187645 RCV001781551 CA314951 rs796052551 VAR_071626 |
817 | M>V | Landau-Kleffner syndrome FESD; gain-of-function characterized by enhanced agonist potency, reduced sensitivity to endogenous negative inhibitors, prolonged synaptic-like response time course, increased single-channel mean open time and increased channel open probability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA394710102 RCV000585832 rs751455326 |
818 | A>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394710105 RCV000626032 COSM3937225 rs1555483699 |
818 | A>T | oesophagus Landau-Kleffner syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs145495027 RCV001806099 RCV002430085 CA277546480 RCV001296334 |
832 | L>F | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000391042 rs774656858 CA7896500 |
833 | I>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001855640 CA7896496 RCV000730549 rs769482103 |
839 | H>Q | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs371352783 CA7896495 RCV001202868 |
840 | L>F | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000502746 CA7896491 rs779911797 RCV002295300 |
848 | C>Y | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16615052 rs1060503230 RCV000462169 |
850 | T>M | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000660446 rs150316865 CA394709879 |
852 | V>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM975082 CA315011 RCV000639592 rs796052564 RCV000187677 RCV001563618 |
855 | D>N | Variant assessed as Somatic; 0.0 impact. Complex neurodevelopmental disorder endometrium Landau-Kleffner syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001115289 rs1901083292 |
858 | G>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs374474575 CA7896480 RCV001236787 |
861 | F>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001040551 CA394709708 rs199784503 |
876 | I>N | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199784503 CA315015 RCV002317106 RCV000187679 RCV000233041 |
876 | I>T | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs183029507 RCV001640286 CA209072 RCV000194713 RCV000861495 |
879 | K>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs766019656 RCV002427036 RCV000818864 |
881 | K>missing | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342212 rs777684328 VAR_078690 CA7896450 |
884 | D>N | Landau-Kleffner syndrome found in a patient with autism; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001586070 CA7896445 rs149698593 RCV001225007 |
888 | T>M | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002438782 rs149698593 RCV001342099 |
888 | T>R | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503229 RCV000457905 CA16615492 |
892 | S>G | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1436853714 CA394709575 RCV001057534 RCV001772273 |
896 | K>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000456951 CA314954 RCV000187647 rs796052553 |
899 | R>W | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA394709525 rs1555482933 VAR_070371 RCV000656042 RCV001196955 |
904 | I>F | Landau-Kleffner syndrome Childhood epilepsy with centrotemporal spikes FESD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs200588845 RCV000559359 CA7896433 RCV001703840 |
912 | S>C | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1060503231 RCV000458374 CA16615071 |
915 | M>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503232 RCV000465329 CA16615490 |
917 | S>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7896428 RCV001317233 RCV002318252 rs778940856 |
918 | P>S | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA314956 VAR_079937 RCV000687669 rs200037904 RCV000187648 |
922 | A>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA394709391 rs1177789326 RCV001325870 RCV002438747 |
924 | F>S | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1596377481 RCV000808666 |
926 | Q>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000543881 rs761044372 CA7896425 |
927 | R>G | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1596377439 RCV000822453 |
932 | M>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA277538510 VAR_070372 rs933322445 |
933 | D>N | Variant assessed as Somatic; impact. FESD; unknown pathological significance [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt Ensembl NCI-TCGA dbSNP |
|
RCV002485270 CA314960 rs540019898 RCV002433844 RCV000187650 |
934 | M>T | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000639596 rs570907044 CA7896417 |
937 | D>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001203501 RCV002436779 rs769602505 CA7896418 VAR_079938 |
937 | D>N | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000074388 CA145314 rs397518467 |
943 | Y>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000347959 RCV000858631 RCV000187628 rs139795367 CA314923 |
951 | G>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001121858 RCV002275294 rs778404336 CA7896411 |
955 | I>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394709156 rs756576680 RCV001327307 CA7896410 |
959 | N>K | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000321319 RCV001855099 rs886042323 CA10604082 |
965 | T>I | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000423176 rs61731465 RCV000117184 CA288898 RCV002312125 RCV000227940 |
967 | V>L | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs772589363 RCV000187651 CA314962 RCV000694542 RCV002433845 |
969 | N>K | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148669437 RCV001121857 RCV001722416 CA7896404 |
970 | R>Q | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000623690 CA10588015 rs886039239 RCV000254569 VAR_070373 |
976 | N>S | Landau-Kleffner syndrome Inborn genetic diseases FESD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs776506065 CA7896403 RCV000661908 |
977 | N>H | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_078111 CA7896399 RCV000691068 rs531782747 RCV000417020 |
989 | N>S | Landau-Kleffner syndrome found in a patient with neonatal onset epileptic encephalopathy; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000824198 CA394708891 rs1596377028 |
1000 | V>M | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001218580 rs200526162 |
1006 | A>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200526162 RCV001034471 CA7896387 |
1006 | A>V | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001348865 rs1900786503 |
1009 | R>K | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM377879 rs753651908 RCV000795114 CA7896385 RCV002536994 |
1010 | P>T | lung Landau-Kleffner syndrome Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA394708816 RCV000658739 rs1163766811 RCV002317909 RCV001298860 |
1011 | R>Q | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7896383 RCV000494547 RCV001436852 rs760522909 |
1011 | R>W | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1306036000 RCV000706633 CA394708794 |
1014 | W>* | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001308195 rs775756583 CA277537951 RCV001310319 COSM240045 |
1018 | V>M | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome prostate [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1181382897 RCV001223210 CA394708751 |
1021 | I>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000523552 COSM975079 RCV000325946 CA7896379 rs560057284 |
1022 | R>C | Variant assessed as Somatic; 9.243e-05 impact. endometrium Landau-Kleffner syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA394708745 RCV000804213 RCV000504253 rs560057284 |
1022 | R>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs796052554 CA314964 RCV001196589 RCV000187652 |
1028 | Q>H | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen TOPMed gnomAD |
|
COSM327818 RCV000502160 CA7896372 RCV000795333 rs540445580 |
1035 | D>N | skin Landau-Kleffner syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001239491 rs1900778341 |
1039 | A>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756663920 CA7896370 RCV000585166 COSM1128835 RCV002063834 |
1040 | E>D | Landau-Kleffner syndrome prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001052692 CA7896371 rs778490114 |
1040 | E>K | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs574425467 RCV001305437 CA7896368 |
1041 | N>K | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA394708562 RCV000762189 COSM281554 RCV003130030 rs1567277844 |
1051 | Y>C | large_intestine Variant assessed as Somatic; impact. Landau-Kleffner syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002524656 rs370107080 RCV002323580 RCV000413152 CA7896360 |
1055 | E>Q | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1900773737 RCV001065179 |
1055 | E>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16620319 rs1064796658 RCV000484465 RCV001823142 |
1058 | H>Q | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772497745 RCV000639578 CA394708461 |
1059 | S>C | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000798378 RCV000238921 CA10586029 rs879255358 |
1060 | D>N | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000658737 rs138809301 VAR_079941 RCV002321756 RCV000378987 CA315017 RCV000187680 |
1064 | T>A | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001062283 rs756930722 RCV000187653 CA314966 COSM2150675 |
1064 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system Landau-Kleffner syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001195874 rs1900770162 |
1067 | R>W | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805163 rs777249842 CA7896353 COSM333162 RCV002537196 |
1069 | T>M | lung Variant assessed as Somatic; 0.0 impact. central_nervous_system Landau-Kleffner syndrome Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555482611 RCV000554587 CA394708372 |
1071 | H>Y | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394708361 rs767326993 CA394708362 RCV000801335 |
1072 | R>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1900768310 RCV001216874 |
1074 | P>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA288900 RCV002312126 RCV000117185 RCV000419597 rs61758995 CA7896349 RCV000230705 |
1076 | N>K | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs1427368529 RCV001330045 |
1077 | S>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001347254 rs1900765657 |
1085 | N>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000817416 COSM180434 CA394708235 rs1596376431 |
1090 | V>A | large_intestine Landau-Kleffner syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1320797353 RCV002290576 RCV001059006 CA394708239 |
1090 | V>M | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs746257794 CA7896341 RCV000466279 RCV002461199 |
1098 | C>Y | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002561129 rs755577016 CA277537451 RCV001203497 |
1104 | T>I | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1419346546 RCV000989524 |
1107 | K>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394708123 RCV000989523 rs1185300490 |
1107 | K>I | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1215972111 RCV000989522 |
1108 | T>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989521 rs1379582796 |
1114 | R>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001950723 rs796052556 |
1114 | R>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1440127051 RCV000989520 |
1115 | D>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002453690 CA314976 RCV001721196 rs764292783 RCV000707285 |
1121 | D>E | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760885908 CA314978 RCV000187659 RCV001262668 |
1122 | G>D | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000519655 CA394708005 rs1177482891 RCV001324285 |
1125 | E>D | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1360004561 RCV001330046 |
1127 | G>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1900748818 RCV001065099 |
1131 | D>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1243412120 RCV000688753 CA394707968 |
1131 | D>Y | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001294612 rs1311723266 CA394707952 |
1133 | P>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7896323 RCV000697772 rs748967552 RCV001704310 |
1134 | Q>K | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002055254 RCV000084755 rs367543135 CA225879 |
1138 | N>I | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7896318 rs61758996 RCV000357114 |
1143 | E>K | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001231062 rs267604687 |
1153 | D>Y | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001697480 rs778180100 RCV001821738 CA7896313 RCV000639604 |
1156 | E>D | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000696027 RCV000484253 rs534440095 CA7896309 |
1159 | R>H | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7896311 rs534440095 RCV000817491 |
1159 | R>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7896310 RCV001252252 rs534440095 RCV000794217 |
1159 | R>P | Intellectual disability Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1900740837 RCV001296807 |
1161 | G>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM332280 RCV001346777 rs761399460 CA7896303 |
1169 | R>Q | lung Variant assessed as Somatic; 0.0 impact. oesophagus endometrium Landau-Kleffner syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs369878342 RCV000699031 RCV001576213 COSM2924176 CA7896304 |
1169 | R>W | pancreas Landau-Kleffner syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394707455 rs1177807348 RCV001227786 |
1172 | L>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs745723771 RCV001232900 RCV001760240 CA7896297 |
1177 | G>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001091966 RCV002557958 rs377152953 CA7896296 |
1178 | L>I | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs142670870 RCV000658736 RCV000538485 CA7896295 |
1179 | S>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA394707406 rs972229279 RCV000639579 |
1180 | N>I | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs375160358 RCV001071221 CA7896292 |
1182 | D>N | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375160358 CA208106 RCV001762409 RCV000764100 RCV000194135 |
1182 | D>Y | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000187660 rs562833714 CA314980 RCV002514006 |
1191 | F>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs75761674 RCV000767019 RCV002517864 CA314982 RCV000187661 RCV000806416 |
1193 | L>W | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA231149 rs587780355 RCV002528213 RCV000117187 |
1207 | Y>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001118336 rs1042202486 |
1212 | T>M | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002311998 RCV000084754 CA225877 rs367543134 |
1216 | S>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000493501 rs1131691913 RCV000690578 CA394707141 |
1220 | N>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001252251 CA10644789 RCV000353829 COSM77810 rs770966136 |
1223 | T>S | ovary Intellectual disability Landau-Kleffner syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000187663 RCV002514007 rs747136651 CA314986 VAR_079942 |
1229 | T>S | Landau-Kleffner syndrome found in a patient with schizophrenia; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1029138195 CA277536739 RCV001196116 |
1235 | K>N | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1224957842 RCV001347644 |
1237 | D>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003129820 RCV000283729 COSM180432 rs886042648 CA10604519 |
1241 | R>Q | lung large_intestine Variant assessed as Somatic; impact. Landau-Kleffner syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs779437393 RCV000639581 CA7896260 |
1246 | Y>C | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_070374 | 1251 | D>N | FESD [UniProt] | Yes | UniProt |
|
RCV000117176 CA231147 RCV001306465 rs587780351 |
1262 | T>I | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147556384 RCV001226922 CA7896254 RCV000498350 |
1265 | Q>H | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001260239 rs1333994593 |
1267 | Y>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394706815 RCV001204060 CA394706814 rs1303683757 |
1268 | Q>H | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
rs750649530 RCV000348486 CA10638791 |
1270 | D>V | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA394706785 rs762745084 RCV000817096 |
1273 | Q>K | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000703855 CA394706778 rs1567275934 |
1274 | N>D | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000187665 CA314990 COSM107888 RCV000309897 RCV000417003 RCV000514244 rs145063086 RCV002311270 VAR_067746 |
1276 | A>G | Focal epilepsy skin Landau-Kleffner syndrome Inborn genetic diseases found in a patient with continuous spike-wave discharges during slow-wave sleep; also found in a patient with drug-resistant focal epilepsy; also found in a cutaneous malignant melanoma sample as somatic mutation; unknown pathological significance [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1900705371 RCV001209554 |
1283 | K>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000084752 COSM107820 RCV000474726 VAR_067747 rs367543132 CA225873 |
1285 | R>K | skin Landau-Kleffner syndrome found in a cutaneous malignant melanoma sample; somatic mutation [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs367543132 RCV000703274 CA7896247 RCV001571268 |
1285 | R>M | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA315027 rs796052569 RCV001034282 |
1292 | Y>C | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs757351084 RCV000187667 CA314992 RCV000406626 |
1295 | I>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1900702353 RCV001070099 |
1296 | V>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel rs1156972587 RCV001330047 |
1299 | P>R | Variant assessed as Somatic; impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001221887 RCV002317795 rs372353067 RCV000255236 CA7896241 |
1300 | R>G | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs765744766 CA7896239 RCV002318317 |
1303 | D>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001308713 CA7896236 RCV002322214 rs199830697 |
1305 | S>R | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002372373 RCV002538265 rs148827608 RCV000827641 CA7896234 |
1307 | P>S | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1900699130 RCV001226778 |
1309 | R>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000546826 rs149745535 COSM3402558 CA7896229 |
1318 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system Landau-Kleffner syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM109239 CA7896230 VAR_067748 rs774419037 RCV001227727 |
1318 | R>W | skin Landau-Kleffner syndrome found in a cutaneous malignant melanoma sample; somatic mutation [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000639586 RCV001281433 RCV000187668 rs370754278 CA314994 |
1321 | E>Q | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1411064283 CA394706302 RCV001294504 |
1340 | K>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10583445 RCV000228394 rs77282679 |
1362 | T>A | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7896211 RCV001034455 RCV002320224 rs762981158 |
1370 | S>C | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001205909 CA394706033 rs1426934537 |
1376 | R>G | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001310317 RCV001871760 rs1277391984 |
1386 | P>L | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199696775 CA7896202 RCV001055738 |
1395 | A>V | Landau-Kleffner syndrome Variant assessed as Somatic; 0.0002772 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002332542 rs74935155 RCV001359825 CA394705777 RCV000762188 |
1402 | R>P | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs74935155 RCV000704555 CA7896199 RCV001412212 RCV002536386 |
1402 | R>Q | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001330048 rs1262702313 |
1412 | C>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327153 rs1900675462 |
1412 | C>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777328885 CA7896190 RCV000639591 RCV002529981 |
1415 | D>E | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394705582 RCV001342113 rs377712891 |
1416 | S>I | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7896189 RCV001034466 rs377712891 |
1416 | S>N | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs377712891 CA394705584 RCV000639594 |
1416 | S>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000688073 CA7896187 rs775911833 |
1420 | N>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000767350 CA394705509 rs1567275051 |
1421 | D>Y | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001348358 rs1900671651 |
1423 | Y>D | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs77029288 RCV000187670 RCV000623372 RCV000287434 CA314998 RCV000723931 |
1436 | N>S | Landau-Kleffner syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394705246 RCV000799560 rs1427097667 |
1437 | N>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7896181 rs200593691 RCV001247160 |
1438 | M>T | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
rs1596373985 RCV001294450 CA394705203 |
1440 | S>P | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001224565 rs1900666405 |
1441 | T>missing | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA315000 RCV000727440 RCV000639595 rs150574045 |
1444 | V>I | Variant assessed as Somatic; 0.0 impact. Landau-Kleffner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs143693526 RCV000285287 RCV000379602 CA7896172 |
1451 | R>S | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000694880 rs774039446 CA7896169 COSM559594 |
1452 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine Landau-Kleffner syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs568622613 RCV000624346 CA394705093 |
1452 | R>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000639590 rs933017490 CA394705048 |
1458 | P>R | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA354186 RCV000209878 rs869312681 |
1459 | S>G | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs748047572 RCV002543549 CA7896164 RCV001310316 |
1463 | D>E | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1304533759 CA394715918 |
2 | G>S | No |
ClinGen gnomAD |
|
|
CA394715911 rs1555491572 |
3 | R>* | No |
ClinGen Ensembl |
|
| TCGA novel | 5 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389308491 CA394715899 |
5 | G>S | No |
ClinGen gnomAD |
|
|
CA394715894 rs1160964676 |
5 | G>V | No |
ClinGen gnomAD |
|
|
rs979274695 CA277616086 |
6 | Y>H | No |
ClinGen Ensembl |
|
|
rs1555491563 COSM110701 CA394715879 |
7 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1555491564 COSM110701 CA394715883 |
7 | W>* | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs773135168 CA7897063 |
8 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA394715872 rs1364379971 |
9 | L>M | No |
ClinGen gnomAD |
|
|
CA7897062 rs769657047 |
11 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs769657047 CA394715861 |
11 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1270808019 CA394715857 |
12 | L>M | No |
ClinGen gnomAD |
|
|
rs1201806901 CA394715852 |
13 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 14 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596587522 RCV000996210 CA394715847 |
14 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555491558 CA394715820 |
18 | W>* | No |
ClinGen Ensembl |
|
|
CA394715818 rs1555491556 |
18 | W>* | No |
ClinGen Ensembl |
|
|
rs1302734897 CA394715813 |
19 | R>H | No |
ClinGen gnomAD |
|
|
rs779149309 CA7897058 |
20 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7897057 rs779149309 |
20 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969233060 CA394715791 |
23 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs969233060 CA277615988 |
23 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1337036703 CA394715787 |
24 | S>N | No |
ClinGen TOPMed |
|
|
rs781722466 CA7897052 |
24 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM295081 CA7897051 rs542256226 |
25 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs751198815 CA394715777 |
26 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394715774 rs1478469530 |
27 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV000084749 rs367543129 CA225867 |
27 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA394715768 rs1057050893 |
28 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA277615971 rs1057050893 |
28 | E>K | No |
ClinGen TOPMed |
|
|
rs761782126 CA394715762 |
29 | K>* | No |
ClinGen ExAC |
|
|
CA7897045 rs761782126 |
29 | K>E | No |
ClinGen ExAC |
|
|
CA277615955 rs199942034 |
31 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA394715744 rs1463948759 |
32 | P>S | No |
ClinGen gnomAD |
|
| rs1555491538 | 33 | A>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3690721 CA394715738 rs1567354612 |
33 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs960622904 CA277615926 |
33 | A>V | No |
ClinGen Ensembl |
|
|
rs768360948 CA7897042 |
40 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA394715677 rs1365236386 |
42 | H>Q | No |
ClinGen gnomAD |
|
|
CA394715655 rs1432737328 |
45 | D>E | No |
ClinGen gnomAD |
|
|
CA277615904 rs866582475 |
45 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 45 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273398229 CA394715644 |
47 | T>R | No |
ClinGen gnomAD |
|
|
CA394715640 rs1555491526 |
48 | E>* | No |
ClinGen Ensembl |
|
|
rs1555491526 RCV000514616 CA394715642 |
48 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs774442834 CA7897040 |
49 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1555491522 CA394715629 |
50 | E>* | No |
ClinGen Ensembl |
|
|
rs1171000379 CA394715625 |
50 | E>G | No |
ClinGen gnomAD |
|
|
rs771127161 CA7897039 |
51 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394715615 rs1555491518 COSM327911 |
52 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1596587259 CA394715614 |
52 | R>Q | No |
ClinGen Ensembl |
|
|
rs370793598 CA7897037 |
54 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394715598 rs1555491514 |
55 | W>* | No |
ClinGen Ensembl |
|
| VAR_067725 | 57 | P>L | found in a cutaneous malignant melanoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs143833346 CA7897033 |
58 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394715577 rs1432050454 |
58 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 58 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555491500 CA394715574 |
59 | Q>* | No |
ClinGen Ensembl |
|
|
rs780265201 CA7897032 |
59 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA394715569 rs1276986122 |
60 | A>T | No |
ClinGen gnomAD |
|
|
CA7897029 rs764780280 |
61 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs750050760 COSM966903 CA7897030 |
61 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA394715548 rs994256744 |
64 | P>S | No |
ClinGen gnomAD |
|
|
CA277615855 rs994256744 |
64 | P>T | No |
ClinGen gnomAD |
|
|
CA394715543 rs753806713 |
65 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394715519 rs1330657376 |
68 | N>K | No |
ClinGen gnomAD |
|
|
CA394715516 rs367543128 |
69 | V>L | No |
ClinGen gnomAD |
|
|
CA225865 RCV000084748 rs367543128 |
69 | V>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1404928108 CA394715503 |
71 | A>G | No |
ClinGen TOPMed |
|
|
rs553783914 CA7897021 |
74 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7897022 rs531731817 |
74 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1236030143 CA394715474 |
76 | R>C | No |
ClinGen gnomAD |
|
|
rs1184494228 CA394715472 |
76 | R>H | No |
ClinGen gnomAD |
|
|
rs546261105 CA394715449 |
80 | K>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7897020 rs546261105 |
80 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7897019 rs748169341 |
80 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1360911587 CA394715447 |
80 | K>R | No |
ClinGen gnomAD |
|
|
CA7897018 rs777013501 |
83 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1354238435 CA394715420 |
84 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA277615739 rs201951938 |
85 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758742694 CA7897014 |
86 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1555491472 CA394715401 |
87 | C>* | No |
ClinGen Ensembl |
|
|
CA394715397 rs1215025585 |
88 | D>H | No |
ClinGen gnomAD |
|
|
rs1405276485 CA394715380 |
90 | M>I | No |
ClinGen gnomAD |
|
|
rs933535128 CA277615680 |
90 | M>T | No |
ClinGen gnomAD |
|
|
rs778499284 CA7897013 |
92 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs753332062 CA7897011 |
93 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA7897012 rs756766370 |
93 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1179489169 CA394715357 |
94 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1179489169 CA394715359 |
94 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA315003 rs1555491463 |
95 | I>T | No |
ClinGen Ensembl |
|
|
CA394715339 rs1085307680 |
97 | G>A | No |
ClinGen TOPMed |
|
|
CA394715342 rs1480537862 |
97 | G>C | No |
ClinGen TOPMed |
|
|
CA394715340 RCV000489830 rs1085307680 |
97 | G>D | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA7897005 rs773569899 |
99 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277615589 rs773569899 |
99 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 102 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200850130 CA394715307 |
102 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567354094 CA394715288 |
105 | D>Y | No |
ClinGen Ensembl |
|
|
rs1555491453 CA394715281 |
106 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA394715273 rs1555491452 |
107 | E>* | No |
ClinGen Ensembl |
|
|
rs768592036 CA394715248 |
111 | Q>* | No |
ClinGen ExAC |
|
|
CA7897001 rs768592036 |
111 | Q>E | No |
ClinGen ExAC |
|
| TCGA novel | 111 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA277615512 rs112342099 |
111 | Q>R | No |
ClinGen Ensembl |
|
|
rs1226737542 CA394715239 |
112 | M>T | No |
ClinGen gnomAD |
|
|
CA394715208 rs1373259478 |
116 | I>M | No |
ClinGen TOPMed |
|
|
rs200651963 CA277615506 |
116 | I>V | No |
ClinGen gnomAD |
|
|
rs376125239 CA7896998 |
122 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394715157 rs1458256024 |
124 | I>M | No |
ClinGen gnomAD |
|
|
CA394715154 rs1555491439 |
125 | L>* | No |
ClinGen Ensembl |
|
|
RCV000996209 rs1596586834 CA394715100 |
133 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs540018457 CA7896996 |
134 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000597548 rs1555491437 CA394715062 |
136 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555491436 CA394715029 |
138 | K>* | No |
ClinGen Ensembl |
|
|
CA394799690 rs1183084745 |
139 | D>G | No |
ClinGen gnomAD |
|
|
CA394799695 rs1555455852 RCV000504462 |
139 | D>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA16603244 RCV000434534 rs1057520114 |
141 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 142 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333590996 CA394799663 |
142 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 142 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_079929 | 143 | T>I | found in a patient with autism spectrum disorder; unknown pathological significance [UniProt] | No | UniProt |
|
CA394799636 rs1596345035 |
143 | T>P | No |
ClinGen Ensembl |
|
|
rs932600164 CA278194595 |
144 | F>L | No |
ClinGen TOPMed |
|
|
rs1331615178 CA394799611 |
144 | F>S | No |
ClinGen gnomAD |
|
|
CA394799579 rs1555455835 COSM1253743 |
146 | Q>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA394799578 rs1596345013 |
146 | Q>P | No |
ClinGen Ensembl |
|
|
rs1227332120 CA394799561 |
147 | F>S | No |
ClinGen gnomAD |
|
|
CA394799550 rs1555455834 |
148 | G>* | No |
ClinGen Ensembl |
|
|
rs1348316426 CA394799530 |
149 | A>V | No |
ClinGen gnomAD |
|
|
CA394799495 rs1555455829 |
152 | Q>* | No |
ClinGen Ensembl |
|
|
rs1555455823 CA394799482 |
153 | Q>* | No |
ClinGen Ensembl |
|
|
CA7896945 rs766736618 |
153 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394799469 rs1555455815 |
154 | Q>* | No |
ClinGen Ensembl |
|
|
rs1458755226 CA394799450 |
155 | A>G | No |
ClinGen gnomAD |
|
|
CA394799381 rs1555455801 |
160 | K>* | No |
ClinGen Ensembl |
|
|
rs182751705 CA7896942 |
161 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867985853 CA278194593 |
164 | D>N | No |
ClinGen Ensembl |
|
|
CA394799288 rs1201061670 |
166 | D>N | No |
ClinGen gnomAD |
|
|
rs1555455773 CA394799261 |
167 | W>* | No |
ClinGen Ensembl |
|
|
CA394799263 rs1555455776 |
167 | W>* | No |
ClinGen Ensembl |
|
|
CA394799255 rs1266794502 |
168 | H>N | No |
ClinGen gnomAD |
|
|
CA394799251 rs1266794502 |
168 | H>Y | No |
ClinGen gnomAD |
|
|
CA278194592 rs1016179733 |
169 | V>I | No |
ClinGen Ensembl |
|
|
COSM3957097 CA394799227 RCV000996208 rs1596344877 |
170 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA278194591 rs908347608 |
173 | V>L | No |
ClinGen TOPMed |
|
|
rs1160344109 CA394799164 |
175 | T>P | No |
ClinGen TOPMed |
|
|
rs1386011098 CA394799115 |
178 | P>L | No |
ClinGen TOPMed |
|
|
rs1348074566 CA394799122 |
178 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555455742 CA394799069 |
182 | E>* | No |
ClinGen Ensembl |
|
|
rs888920557 CA278194590 |
185 | S>T | No |
ClinGen Ensembl |
|
|
CA394799006 rs1596344817 |
186 | F>S | No |
ClinGen Ensembl |
|
|
rs1555455735 CA394798995 |
188 | K>* | No |
ClinGen Ensembl |
|
|
CA7896929 rs766473924 |
189 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7896927 rs750915745 |
192 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA278194589 rs778870912 |
193 | N>H | No |
ClinGen Ensembl |
|
|
rs981166445 CA278194588 |
193 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394798951 rs1445598953 |
195 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs969690586 CA278194586 |
197 | G>C | No |
ClinGen TOPMed |
|
|
rs1555455726 CA394798928 |
198 | W>* | No |
ClinGen Ensembl |
|
|
rs138958941 CA278194585 |
199 | D>E | No |
ClinGen ESP |
|
|
CA7896925 rs762233114 |
200 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA394798918 rs1343930973 |
200 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1555455724 CA394798908 |
201 | Q>* | No |
ClinGen Ensembl |
|
|
CA394798904 rs1235477869 |
201 | Q>H | No |
ClinGen gnomAD |
|
|
CA7896924 rs753547381 |
201 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394798891 rs1422562931 |
203 | V>A | No |
ClinGen TOPMed |
|
|
CA394798893 CA394798894 rs1342755805 |
203 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394798895 rs1342755805 |
203 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7896923 rs763785374 |
204 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs774932381 CA7896922 |
209 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA278194584 rs957100552 |
210 | F>S | No |
ClinGen TOPMed |
|
|
rs1555455713 CA394798847 |
211 | E>* | No |
ClinGen Ensembl |
|
|
rs771580780 CA394798841 |
211 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs759441215 CA7896920 |
213 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1555455710 CA394798822 |
214 | K>* | No |
ClinGen Ensembl |
|
|
CA394798808 rs1555455708 |
216 | Q>* | No |
ClinGen Ensembl |
|
|
CA394798782 rs1555455705 |
220 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 221 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390901149 CA394798761 |
223 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1555455700 CA394798726 |
228 | L>* | No |
ClinGen Ensembl |
|
|
CA7896917 rs777529531 |
228 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA278194582 rs996900968 |
230 | Y>C | No |
ClinGen TOPMed |
|
|
rs1596344646 CA394798716 |
230 | Y>H | No |
ClinGen Ensembl |
|
|
rs1555455685 CA394798704 |
231 | C>* | No |
ClinGen Ensembl |
|
|
CA394798707 rs1238779318 |
231 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7896915 rs747198986 |
232 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA394798695 rs1555455683 |
233 | K>* | No |
ClinGen Ensembl |
|
|
CA7896914 rs780042633 |
234 | D>A | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA394798663 rs1596344614 |
237 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA278194581 rs899780729 |
238 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA394798662 rs899780729 |
238 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1555455674 CA394798635 |
242 | E>* | No |
ClinGen Ensembl |
|
|
RCV000084743 rs367543123 CA225857 |
244 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs201674066 CA7896911 |
244 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7896910 rs574122648 |
245 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394798602 rs1371184678 |
248 | L>V | No |
ClinGen gnomAD |
|
|
rs759019028 CA7896905 |
249 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA394798592 rs1473377043 COSM3672150 |
250 | G>R | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs868215122 VAR_067727 CA278194578 COSM109185 |
252 | D>N | Variant assessed as Somatic; impact. skin found in a cutaneous malignant melanoma sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt Ensembl NCI-TCGA dbSNP |
| TCGA novel | 253 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000762191 rs762869573 CA394798568 |
253 | F>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs762869573 CA7896902 |
253 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394798552 rs1555455647 |
255 | W>* | No |
ClinGen Ensembl |
|
|
CA394798548 rs1555455645 |
255 | W>* | No |
ClinGen Ensembl |
|
|
rs2044761053 RCV001092814 |
257 | V>I | No |
ClinVar dbSNP |
|
|
rs1555455642 CA394798516 |
260 | L>* | No |
ClinGen Ensembl |
|
|
CA394798483 rs747214620 |
265 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7896897 rs780286303 |
267 | L>V | No |
ClinGen ExAC gnomAD |
|
| VAR_010938 | 270 | K>E | No | UniProt | |
|
rs1555455636 CA394798446 |
271 | E>* | No |
ClinGen Ensembl |
|
|
CA7896895 rs778849362 COSM3387170 |
272 | F>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA394798424 rs539907710 |
274 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs539907710 CA7896893 |
274 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394798420 rs1555455632 |
275 | G>* | No |
ClinGen Ensembl |
|
|
CA7896891 rs756499758 |
276 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs148531310 VAR_067728 COSM22050 CA278194575 |
278 | S>F | NS skin found in a cutaneous malignant melanoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
rs185993125 CA278194574 |
280 | S>F | No |
ClinGen 1000Genomes |
|
|
CA394798334 rs1252446296 |
287 | S>R | No |
ClinGen TOPMed |
|
|
rs1555455611 CA394798327 |
289 | E>* | No |
ClinGen Ensembl |
|
|
CA7896886 rs765841145 |
289 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA394798315 rs1555455603 |
291 | R>* | No |
ClinGen Ensembl |
|
|
rs1006113591 CA278194572 |
291 | R>T | No |
ClinGen Ensembl |
|
| TCGA novel | 295 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775591257 CA7896883 |
297 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7896882 COSM702026 rs775591257 |
297 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA394798273 rs1246789585 |
298 | I>V | No |
ClinGen gnomAD |
|
|
rs772400474 CA7896881 |
300 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 300 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 300 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771113247 CA7896880 |
304 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394798235 rs1283765213 |
305 | S>T | No |
ClinGen gnomAD |
|
|
rs778386295 CA7896878 |
306 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394798216 rs756447522 |
308 | E>* | No |
ClinGen ExAC |
|
|
rs1275523625 CA394798212 |
308 | E>D | No |
ClinGen gnomAD |
|
|
CA7896877 rs756447522 |
308 | E>K | No |
ClinGen ExAC |
|
|
CA7896876 rs748601438 |
309 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 310 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754698963 CA7896874 |
311 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1465063447 CA394798182 |
313 | I>L | No |
ClinGen TOPMed |
|
|
rs765104792 CA394798168 |
315 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 316 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452471642 CA394798156 |
316 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394798154 rs141326581 |
317 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7896868 rs776559667 |
319 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7896867 rs763767512 |
319 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA394798129 rs1555455539 |
320 | C>* | No |
ClinGen Ensembl |
|
|
CA394798124 rs1240144483 |
321 | Y>C | No |
ClinGen gnomAD |
|
|
CA394798113 rs1555455535 |
323 | Q>* | No |
ClinGen Ensembl |
|
|
CA394798102 rs1233711595 |
324 | M>T | No |
ClinGen gnomAD |
|
|
rs1555455534 CA394798096 |
325 | E>* | No |
ClinGen Ensembl |
|
|
CA394798083 rs771168389 |
327 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300381776 CA394798076 |
328 | E>* | No |
ClinGen gnomAD |
|
|
CA394798077 rs1300381776 |
328 | E>Q | No |
ClinGen gnomAD |
|
|
CA7896863 rs146610239 |
329 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7896862 rs367543120 |
330 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7896858 RCV000494090 rs370306281 |
333 | T>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7896859 rs370306281 |
333 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394798038 rs1555455521 |
334 | L>* | No |
ClinGen Ensembl |
|
| rs1432275575 | 335 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757921185 CA394798032 |
335 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7896856 rs757921185 |
335 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148511104 CA7896855 |
336 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394797615 rs1453013171 |
338 | M>V | No |
ClinGen TOPMed |
|
|
rs1432079771 CA394797607 |
339 | V>L | No |
ClinGen Ensembl |
|
|
rs756673830 CA7896837 |
340 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1040519934 CA278188163 |
340 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394797580 rs1231057100 COSM106759 COSM222315 |
343 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA278188162 COSM106759 COSM222315 rs144703143 |
343 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1231057100 CA394797578 |
343 | W>L | No |
ClinGen gnomAD |
|
|
rs753846392 CA7896836 |
343 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390365288 CA394797547 |
347 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA394797549 rs1379285680 |
347 | D>V | No |
ClinGen TOPMed |
|
| VAR_071624 | 349 | S>F | found in a cutaneous malignant melanoma sample [UniProt] | No | UniProt |
|
rs1555501118 CA394797519 |
352 | E>* | No |
ClinGen Ensembl |
|
|
rs373239575 CA394797510 |
353 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458361061 CA394797500 |
354 | G>A | No |
ClinGen gnomAD |
|
|
rs1359194668 CA394797493 |
355 | Y>F | No |
ClinGen TOPMed |
|
|
rs1555501109 CA394797488 |
356 | Q>* | No |
ClinGen Ensembl |
|
|
rs1299048782 CA394797483 |
356 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 356 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78929970 CA394797481 |
357 | V>L | No |
ClinGen gnomAD |
|
|
CA394797472 rs1368175896 |
358 | H>L | No |
ClinGen gnomAD |
|
|
rs1465126724 CA394797468 |
359 | P>S | No |
ClinGen TOPMed |
|
|
rs908023827 CA278188159 |
360 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 361 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750620368 CA394797452 CA7896830 COSM3717149 |
362 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7896829 rs765385926 |
365 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs777206280 CA7896827 |
367 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1555501095 CA394797416 |
368 | K>* | No |
ClinGen Ensembl |
|
|
CA7896826 rs369655584 |
369 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs77772378 CA278188157 |
369 | D>N | No |
ClinGen Ensembl |
|
|
rs149344082 CA394797397 |
371 | E>* | No |
ClinGen Ensembl |
|
|
rs149344082 COSM108119 VAR_067729 CA278188156 |
371 | E>K | skin found in a cutaneous malignant melanoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
CA394797387 rs1555501093 |
372 | W>* | No |
ClinGen Ensembl |
|
|
rs1555501090 CA394797385 |
372 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1555501088 CA394797382 |
373 | E>* | No |
ClinGen Ensembl |
|
| VAR_067730 | 373 | E>K | found in a cutaneous malignant melanoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs1555501079 CA394797372 |
374 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 375 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394801357 rs1555496207 |
377 | K>* | No |
ClinGen Ensembl |
|
|
rs1555496202 CA394801343 COSM107600 |
378 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA394801346 COSM107600 rs1555496205 |
378 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1555496201 CA394801338 |
379 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 379 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16044332 rs1057519551 COSM975092 VAR_078109 RCV000416946 |
380 | N>D | Variant assessed as Somatic; impact. endometrium found in a patient with neonatal onset epileptic encephalopathy; unknown pathological significance [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA278182632 rs4781938 |
380 | N>T | No |
ClinGen Ensembl |
|
|
CA7896794 rs757464009 |
381 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401631812 CA394801325 |
381 | H>R | No |
ClinGen TOPMed |
|
|
COSM559572 CA394801315 rs1394587285 |
382 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA394801316 rs1394587285 |
382 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394801305 rs1300680701 |
384 | S>T | No |
ClinGen TOPMed |
|
|
CA394801288 rs1444903192 |
387 | H>D | No |
ClinGen gnomAD |
|
|
CA394801279 rs1211198789 COSM975091 |
388 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1277595711 CA394801275 COSM1678830 |
389 | V>M | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1555496181 CA394801263 |
390 | W>* | No |
ClinGen Ensembl |
|
|
CA394801266 rs1555496182 |
390 | W>* | No |
ClinGen Ensembl |
|
|
rs1596494988 CA394801245 |
393 | Y>D | No |
ClinGen Ensembl |
|
|
rs1555496180 CA394801239 |
394 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 394 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555496178 CA394801197 |
399 | C>* | No |
ClinGen Ensembl |
|
| TCGA novel | 399 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766743064 CA394801194 |
400 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs766743064 CA7896786 |
400 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762535029 CA7896785 |
401 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3402561 RCV000509151 rs1489261681 CA394801184 |
401 | P>L | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
CA394801185 rs1489261681 |
401 | P>R | No |
ClinGen TOPMed |
|
|
CA278182629 rs773990289 |
404 | N>S | No |
ClinGen Ensembl |
|
|
rs747599424 CA7896782 |
406 | L>I | No |
ClinGen ExAC |
|
|
CA394801142 rs1567344580 |
407 | S>I | No |
ClinGen Ensembl |
|
|
CA394801135 rs1431001691 |
408 | I>T | No |
ClinGen TOPMed |
|
|
rs1351978664 CA394801132 COSM3402560 |
409 | V>I | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA394801113 rs1555496162 |
412 | E>* | No |
ClinGen Ensembl |
|
|
CA394801106 rs866275641 |
413 | E>* | No |
ClinGen Ensembl |
|
|
rs866275641 CA278182627 |
413 | E>K | No |
ClinGen Ensembl |
|
|
CA394801095 rs1567344535 |
414 | A>V | No |
ClinGen Ensembl |
|
|
rs1555496150 CA394801062 |
420 | E>* | No |
ClinGen Ensembl |
|
|
CA278182624 rs755485940 |
422 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs766685370 CA7896771 |
423 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394801031 rs375260513 |
424 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs879253760 | 425 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765037038 CA7896768 |
425 | L>V | No |
ClinGen ExAC |
|
|
CA394801020 rs560839364 |
427 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA278182622 rs560839364 |
427 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA7896766 rs560839364 |
427 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555496123 CA394801002 |
429 | C>* | No |
ClinGen Ensembl |
|
|
rs771768582 CA394800989 |
431 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA394800982 rs1390579090 |
432 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 433 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394800962 rs1234115938 |
435 | P>L | No |
ClinGen gnomAD |
|
|
COSM3742072 rs1222001106 CA394800955 |
436 | C>* | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1596494684 RCV000996207 CA394800956 |
436 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7896759 CA7896758 rs781270566 |
438 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7896757 rs755045335 |
439 | F>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7896753 rs750881842 |
440 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758815434 CA7896754 |
440 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7896755 rs758815434 |
440 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394800932 rs1555496104 |
441 | K>* | No |
ClinGen Ensembl |
|
|
rs765663965 CA7896752 |
441 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs747167014 CA394800894 |
444 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206387361 CA394800879 |
447 | N>D | No |
ClinGen Ensembl |
|
|
rs367543145 CA394800875 |
447 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394800872 rs368026708 |
448 | E>* | No |
ClinGen ESP TOPMed |
|
|
rs758982116 CA7896737 |
448 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273711716 CA394800870 |
448 | E>G | No |
ClinGen TOPMed |
|
|
COSM106644 rs139033056 VAR_067731 CA278181486 |
449 | G>E | skin found in a cutaneous malignant melanoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
CA394800863 rs139033056 |
449 | G>V | No |
ClinGen gnomAD |
|
|
CA394800865 rs1218196720 |
449 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs143739614 CA7896736 |
451 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 452 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394800839 rs1555494827 |
453 | K>* | No |
ClinGen Ensembl |
|
|
rs1555494825 CA394800831 |
454 | K>* | No |
ClinGen Ensembl |
|
|
CA394800819 rs1555494819 |
455 | C>* | No |
ClinGen Ensembl |
|
|
CA394800823 rs1226496333 |
455 | C>G | No |
ClinGen TOPMed |
|
|
CA394800811 rs1555494817 |
456 | C>* | No |
ClinGen Ensembl |
|
|
rs1219270954 CA394800807 |
457 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1219270954 CA394800808 |
457 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs753549372 CA7896735 |
459 | F>L | No |
ClinGen ExAC gnomAD |
|
| VAR_067732 | 459 | F>S | found in a cutaneous malignant melanoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA394800781 rs375291296 |
460 | C>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs763745544 CA7896734 |
462 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs866473134 CA278181485 |
462 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7896733 rs755710558 |
463 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1555494812 CA394800751 |
465 | K>* | No |
ClinGen Ensembl |
|
|
CA394800743 rs1555494810 |
466 | K>* | No |
ClinGen Ensembl |
|
|
rs1555494808 CA394800724 |
469 | R>* | No |
ClinGen Ensembl |
|
| TCGA novel | 469 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7896732 rs752320310 |
470 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs759490557 CA7896731 |
471 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1555494800 CA394800707 |
472 | K>* | No |
ClinGen Ensembl |
|
|
rs766162952 CA7896729 |
476 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA394800669 rs1285260219 |
477 | L>I | No |
ClinGen Ensembl |
|
|
CA394800665 rs1421390977 |
478 | Y>H | No |
ClinGen gnomAD |
|
|
rs747167223 CA7896725 |
481 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7896724 rs775686618 |
482 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA394800626 rs1555494783 |
484 | K>* | No |
ClinGen Ensembl |
|
|
rs1555494781 RCV000598137 |
485 | H>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 485 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394800605 rs1555494778 |
487 | K>* | No |
ClinGen Ensembl |
|
|
rs1555494776 CA394800596 |
488 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1047483436 CA278181482 |
488 | K>N | No |
ClinGen Ensembl |
|
|
rs1215472949 CA394800575 |
491 | N>D | No |
ClinGen gnomAD |
|
|
rs1555494772 CA394800558 |
493 | W>* | No |
ClinGen Ensembl |
|
|
rs1555494770 CA394800557 |
493 | W>* | No |
ClinGen Ensembl |
|
|
CA394800546 rs1555494769 |
495 | G>* | No |
ClinGen Ensembl |
|
| TCGA novel | 495 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112193824 CA278181480 |
497 | I>T | No |
ClinGen Ensembl |
|
|
CA7896719 rs749732928 |
498 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7896720 rs757713617 |
498 | G>C | No |
ClinGen ExAC |
|
|
CA394800521 rs1555494757 |
499 | E>* | No |
ClinGen Ensembl |
|
|
CA394800493 rs1406890062 |
501 | V>F | No |
ClinGen TOPMed |
|
|
RCV001008660 CA394800479 rs1555494699 |
503 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 505 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368188808 CA7896682 |
506 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1365602370 CA394800446 |
508 | A>V | No |
ClinGen gnomAD |
|
|
rs267604688 CA394800429 |
511 | S>* | No |
ClinGen Ensembl |
|
|
rs1555494687 CA394800399 |
516 | E>* | No |
ClinGen Ensembl |
|
|
CA394800373 rs1555494685 |
520 | E>* | No |
ClinGen Ensembl |
|
|
CA7896678 rs780761179 |
520 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA7896676 rs751136407 |
521 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA278181464 rs866185977 |
523 | D>A | No |
ClinGen Ensembl |
|
|
CA7896675 rs779507103 |
527 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1555494681 CA394800309 |
530 | E>* | No |
ClinGen Ensembl |
|
|
CA394800296 rs1555494680 |
532 | G>* | No |
ClinGen Ensembl |
|
|
CA394800282 rs1481850778 |
534 | S>N | No |
ClinGen TOPMed |
|
|
rs1555494679 CA394800249 |
539 | R>* | No |
ClinGen Ensembl |
|
| TCGA novel | 542 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394800203 rs1567337154 |
546 | P>A | No |
ClinGen Ensembl |
|
|
rs2042657887 RCV001311425 |
548 | A>G | No |
ClinVar dbSNP |
|
|
CA394800171 rs1555494671 |
551 | E>* | No |
ClinGen Ensembl |
|
|
rs397518450 RCV001091974 |
552 | P>Q | No |
ClinVar dbSNP |
|
| TCGA novel | 555 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA153029 RCV000117173 rs587780349 |
556 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555493581 CA394800107 |
558 | W>* | No |
ClinGen Ensembl |
|
|
CA394800110 rs1555493585 |
558 | W>* | No |
ClinGen Ensembl |
|
|
CA394800102 rs1476673300 |
559 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 563 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188103962 CA394800065 |
564 | M>V | No |
ClinGen gnomAD |
|
|
rs762880673 CA7896650 |
568 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7896649 rs773325355 |
571 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA394800021 rs1265165634 |
571 | I>V | No |
ClinGen TOPMed |
|
|
CA7896648 rs765726510 |
573 | V>L | No |
ClinGen ExAC |
|
|
rs540499505 CA394799985 |
576 | F>L | No |
ClinGen gnomAD |
|
| VAR_079934 | 576 | F>S | No | UniProt | |
|
rs1555493555 CA394799981 |
577 | E>* | No |
ClinGen Ensembl |
|
|
rs1295182898 CA394799939 |
583 | G>* | No |
ClinGen gnomAD |
|
|
CA394799941 rs1295182898 |
583 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394799894 rs1332704840 |
589 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1339979085 CA394799896 |
589 | A>S | No |
ClinGen gnomAD |
|
|
rs1555493540 CA394799891 |
590 | K>* | No |
ClinGen Ensembl |
|
|
rs867195830 CA278180661 |
591 | G>E | No |
ClinGen Ensembl |
|
|
CA394799885 rs1397649822 |
591 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394799878 rs1555493534 |
592 | K>* | No |
ClinGen Ensembl |
|
|
CA394799849 rs1331281411 |
594 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs551688681 CA278180082 |
595 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs551688681 CA7896630 VAR_067733 |
595 | H>R | found in a cutaneous malignant melanoma sample; somatic mutation [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
CA278180083 rs565111836 |
595 | H>Y | No |
ClinGen 1000Genomes |
|
|
rs372504185 CA7896628 |
596 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
| VAR_067734 | 598 | S>F | found in a cutaneous malignant melanoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA394799808 rs1404462639 |
601 | I>T | No |
ClinGen gnomAD |
|
|
CA394799803 rs1555492804 |
602 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA394799797 rs1555492802 |
603 | K>* | No |
ClinGen Ensembl |
|
|
rs2042450868 RCV001091972 |
604 | A>missing | No |
ClinVar dbSNP |
|
|
rs986690961 CA278180081 |
605 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
COSM435959 rs775819322 CA394799773 |
606 | W>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM435959 rs1555492799 CA394799775 |
606 | W>* | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs775819322 CA7896626 |
606 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1470460131 CA394799770 |
607 | L>V | No |
ClinGen gnomAD |
|
|
rs771688818 CA7896625 |
608 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1596471934 RCV001008483 |
609 | W>missing | No |
ClinVar dbSNP |
|
|
CA394799757 rs1555492793 |
609 | W>* | No |
ClinGen Ensembl |
|
|
rs1555492790 CA394799752 |
609 | W>* | No |
ClinGen Ensembl |
|
|
rs1555492779 CA394799662 |
620 | Q>* | No |
ClinGen Ensembl |
|
|
CA394799632 rs1555492778 |
623 | K>* | No |
ClinGen Ensembl |
|
|
rs1555492777 CA394799573 |
628 | K>* | No |
ClinGen Ensembl |
|
|
CA278180079 rs962487040 |
630 | M>I | No |
ClinGen TOPMed |
|
|
rs1163757477 CA394799541 |
630 | M>T | No |
ClinGen TOPMed |
|
|
rs1225488033 CA394799547 |
630 | M>V | No |
ClinGen gnomAD |
|
|
rs1057520116 RCV000441603 CA16603246 |
632 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394799489 rs867454593 |
634 | W>* | No |
ClinGen Ensembl |
|
|
rs867454593 CA278180078 |
634 | W>C | No |
ClinGen Ensembl |
|
|
rs1555492766 CA315007 |
642 | L>M | No |
ClinGen Ensembl |
|
|
CA314937 rs1555492763 |
644 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 646 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1000800098 CA278180077 |
646 | T>K | No |
ClinGen Ensembl |
|
|
rs1555492758 CA394799344 |
646 | T>P | No |
ClinGen Ensembl |
|
|
RCV000497833 CA394799337 rs1000800098 |
646 | T>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| VAR_067735 | 653 | M>I | found in a cutaneous malignant melanoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs1555492747 CA394799230 |
655 | Q>* | No |
ClinGen Ensembl |
|
|
CA394799218 rs1555492746 |
656 | E>* | No |
ClinGen Ensembl |
|
|
rs867335598 CA394799201 |
657 | E>* | No |
ClinGen Ensembl |
|
|
rs867335598 CA278180076 |
657 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1555492744 CA394799146 |
661 | Q>* | No |
ClinGen Ensembl |
|
|
CA394799044 rs1555492741 |
668 | K>* | No |
ClinGen Ensembl |
|
|
CA394799030 rs1555492739 |
669 | K>* | No |
ClinGen Ensembl |
|
|
rs1555491689 CA394798000 |
671 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA394797996 rs1483993406 |
671 | Q>H | No |
ClinGen gnomAD |
|
|
rs1555491685 CA394797993 |
672 | R>* | No |
ClinGen Ensembl |
|
|
CA7896594 rs753985352 |
673 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA314941 rs1555491681 |
674 | H>N | No |
ClinGen Ensembl |
|
|
rs1275623319 CA394797970 |
675 | D>E | No |
ClinGen gnomAD |
|
|
CA394797967 rs1214763733 |
676 | Y>N | No |
ClinGen gnomAD |
|
|
rs1275934660 CA394797950 |
678 | P>L | No |
ClinGen gnomAD |
|
|
rs1415214536 CA394797947 |
679 | P>S | No |
ClinGen TOPMed |
|
|
rs1278155592 CA394797929 |
682 | F>S | No |
ClinGen gnomAD |
|
|
CA394797892 rs1555491668 |
688 | G>* | No |
ClinGen Ensembl |
|
|
rs932803191 CA278179183 |
689 | S>N | No |
ClinGen Ensembl |
|
|
CA394797875 rs1555491658 |
691 | E>* | No |
ClinGen Ensembl |
|
|
CA394797866 rs1555491656 |
692 | R>* | No |
ClinGen Ensembl |
|
|
RCV000520893 rs1555491645 CA394797797 |
701 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs145142345 CA7896589 |
701 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394797785 rs1555491643 |
703 | Q>* | No |
ClinGen Ensembl |
|
|
CA394797757 rs1423127538 |
706 | T>I | No |
ClinGen gnomAD |
|
|
rs1555491639 CA394797754 |
707 | K>* | No |
ClinGen Ensembl |
|
|
rs1555491637 CA394797730 |
710 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA394797722 rs1555491636 |
711 | K>* | No |
ClinGen Ensembl |
|
|
rs1555491635 CA394797714 |
712 | G>* | No |
ClinGen Ensembl |
|
|
CA394797713 rs143031592 |
712 | G>A | No |
ClinGen TOPMed |
|
|
VAR_067736 COSM106836 rs143031592 CA278179181 |
712 | G>E | Variant assessed as Somatic; impact. skin found in a cutaneous malignant melanoma sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt NCI-TCGA TOPMed dbSNP |
|
CA394797704 rs1555491625 |
714 | E>* | No |
ClinGen Ensembl |
|
|
rs1555491614 CA394797684 |
717 | L>* | No |
ClinGen Ensembl |
|
| TCGA novel | 718 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394797666 rs1482585408 |
719 | S>R | No |
ClinGen gnomAD |
|
|
CA394797658 rs1555491604 |
721 | K>* | No |
ClinGen Ensembl |
|
|
CA7896587 rs772894145 |
722 | T>A | No |
ClinGen ExAC gnomAD |
|
| rs771808833 | 723 | G>= | Variant assessed as Somatic; 0.00037 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394797648 rs1355678094 |
723 | G>R | No |
ClinGen TOPMed |
|
|
CA394797349 rs1555488153 |
724 | K>* | No |
ClinGen Ensembl |
|
|
rs1391662912 CA394797329 |
726 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 726 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs796052549 RCV000658207 CA394797300 |
731 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 732 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439688451 CA394797282 |
734 | V>I | No |
ClinGen gnomAD |
|
|
CA394797274 rs1555488135 |
735 | L>* | No |
ClinGen Ensembl |
|
| VAR_067737 | 740 | G>W | found in a cutaneous malignant melanoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs747422717 CA7896556 |
742 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA278175998 rs868291959 |
742 | D>N | No |
ClinGen Ensembl |
|
|
CA394797218 rs1555488129 |
743 | E>* | No |
ClinGen Ensembl |
|
|
rs1266182066 CA394797214 |
743 | E>D | No |
ClinGen gnomAD |
|
|
rs780596085 CA7896555 |
744 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA394797200 rs1555488127 |
745 | C>* | No |
ClinGen Ensembl |
|
|
CA394797197 rs1555488126 |
746 | K>* | No |
ClinGen Ensembl |
|
|
CA7896552 rs765039129 |
750 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555488124 RCV000514028 CA394797150 |
753 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7896549 rs763490638 |
755 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7896548 rs760684996 |
756 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394797093 rs1555488117 |
762 | G>* | No |
ClinGen Ensembl |
|
| VAR_071625 | 762 | G>A | found in a cutaneous malignant melanoma sample [UniProt] | No | UniProt |
|
CA394797085 rs1085307688 RCV000489963 |
763 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394797068 rs1555488115 |
766 | Q>* | No |
ClinGen Ensembl |
|
|
rs1555488112 CA394797060 |
767 | K>* | No |
ClinGen Ensembl |
|
|
CA394797051 rs1419600530 |
768 | G>D | No |
ClinGen gnomAD |
|
|
CA394797030 rs1555488097 |
771 | W>* | No |
ClinGen Ensembl |
|
|
CA394797033 rs1555488102 |
771 | W>* | No |
ClinGen Ensembl |
|
|
rs1555488094 CA394797027 |
772 | K>* | No |
ClinGen Ensembl |
|
|
rs1176115385 CA394797017 |
773 | R>K | No |
ClinGen gnomAD |
|
|
rs1555488093 CA394797010 |
774 | Q>* | No |
ClinGen Ensembl |
|
|
rs776791010 COSM975086 CA7896542 |
776 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA394796978 rs1555488084 |
779 | L>* | No |
ClinGen Ensembl |
|
|
CA394796966 rs1555488081 |
781 | Q>* | No |
ClinGen Ensembl |
|
|
CA394796947 rs1192241725 |
783 | V>A | No |
ClinGen gnomAD |
|
|
CA7896540 rs76392464 |
784 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394710327 rs1555483743 |
787 | E>* | No |
ClinGen Ensembl |
|
|
rs1163381321 CA394710315 |
788 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 788 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394710310 rs1555483740 |
789 | E>* | No |
ClinGen Ensembl |
|
|
CA394710302 rs1555483737 |
790 | E>* | No |
ClinGen Ensembl |
|
|
CA394710289 rs1555483734 |
792 | E>* | No |
ClinGen Ensembl |
|
|
rs1555483727 CA394710267 |
795 | W>* | No |
ClinGen Ensembl |
|
|
CA394710245 rs1235395999 |
799 | I>V | No |
ClinGen TOPMed |
|
|
rs1555483719 CA394710233 |
800 | C>* | No |
ClinGen Ensembl |
|
|
CA394710219 rs1257824288 |
802 | N>S | No |
ClinGen TOPMed |
|
|
rs1198247451 CA394710213 |
803 | E>* | No |
ClinGen gnomAD |
|
|
CA394710215 rs1198247451 |
803 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394710205 rs1555483710 |
804 | K>* | No |
ClinGen Ensembl |
|
|
rs777235967 CA394710193 |
805 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394710190 rs868222927 |
806 | E>* | No |
ClinGen Ensembl |
|
|
CA277546557 COSM1686229 rs868222927 |
806 | E>K | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA394710151 rs1210459147 |
811 | Q>P | No |
ClinGen gnomAD |
|
|
rs751455326 CA7896509 |
818 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA277546484 rs74458073 |
820 | V>G | No |
ClinGen Ensembl |
|
|
COSM1662072 rs764289741 CA7896505 |
820 | V>I | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA394710047 rs1404178457 |
827 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1387969625 CA394710040 |
828 | M>T | No |
ClinGen gnomAD |
|
|
rs145495027 CA7896501 |
832 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA277546473 rs1012398659 |
836 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7896498 rs749678183 |
836 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394709979 rs1555483682 |
837 | W>* | No |
ClinGen Ensembl |
|
|
CA394709974 rs1555483677 |
838 | E>* | No |
ClinGen Ensembl |
|
|
rs773625892 CA7896497 |
839 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1555483669 CA394709938 |
843 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA394709935 rs1555483666 |
843 | W>* | No |
ClinGen Ensembl |
|
|
rs1377674858 CA394709930 |
844 | K>* | No |
ClinGen TOPMed |
|
|
rs1377674858 CA394709932 |
844 | K>Q | No |
ClinGen TOPMed |
|
|
rs1285952756 CA394709917 |
846 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM975084 CA7896492 rs746978701 |
846 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 847 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555483656 CA394709901 |
848 | C>* | No |
ClinGen Ensembl |
|
|
CA394709882 rs1447076076 |
851 | G>A | No |
ClinGen TOPMed |
|
|
CA394709884 rs1328846513 |
851 | G>R | No |
ClinGen gnomAD |
|
|
VAR_079936 rs150316865 CA7896488 |
852 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA394709870 rs1555483644 |
853 | C>* | No |
ClinGen Ensembl |
|
|
CA7896486 rs752930232 |
853 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1388409847 CA394709872 |
853 | C>Y | No |
ClinGen TOPMed |
|
|
rs767711525 CA7896485 |
855 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7896484 RCV000996204 rs201072838 |
856 | R>G | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA7896482 rs368881818 |
856 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7896483 rs201072838 |
856 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394709853 rs1195869916 |
857 | P>A | No |
ClinGen gnomAD |
|
|
rs796052565 CA315013 |
858 | G>A | No |
ClinGen Ensembl |
|
|
CA394709841 rs1555483634 |
859 | L>* | No |
ClinGen Ensembl |
|
|
rs1596382621 CA394709842 |
859 | L>V | No |
ClinGen Ensembl |
|
|
rs747800111 CA7896478 |
865 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA7896457 rs768337205 |
867 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA394709773 rs1302220183 |
867 | I>V | No |
ClinGen gnomAD |
|
|
CA277538850 rs867959101 |
869 | S>N | No |
ClinGen Ensembl |
|
|
CA394709754 rs1402208981 |
869 | S>R | No |
ClinGen gnomAD |
|
|
CA394709747 rs1555482983 |
870 | C>* | No |
ClinGen Ensembl |
|
|
CA277538842 rs927932970 |
871 | I>L | No |
ClinGen TOPMed |
|
|
rs1555482977 CA394709729 |
873 | G>* | No |
ClinGen Ensembl |
|
|
CA394709709 rs1399604502 |
876 | I>F | No |
ClinGen gnomAD |
|
|
RCV001091971 rs199784503 |
876 | I>S | No |
ClinVar dbSNP |
|
|
rs1399604502 CA394709710 |
876 | I>V | No |
ClinGen gnomAD |
|
|
rs1555482967 CA394709703 |
877 | E>* | No |
ClinGen Ensembl |
|
|
rs1555482966 CA394709695 |
878 | E>* | No |
ClinGen Ensembl |
|
|
rs1555482965 CA394709680 |
880 | K>* | No |
ClinGen Ensembl |
|
|
rs778938265 CA7896454 |
880 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA225883 rs367543137 RCV000084757 |
880 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555482962 CA394709674 |
881 | K>* | No |
ClinGen Ensembl |
|
|
CA394709667 rs1384190116 |
882 | S>P | No |
ClinGen TOPMed |
|
|
CA394709668 RCV000585401 rs1384190116 |
882 | S>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs770982536 CA7896452 |
883 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457079236 CA394709654 |
884 | D>G | No |
ClinGen gnomAD |
|
|
CA7896448 rs751762600 |
885 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs367543136 COSM368368 RCV000084756 CA225881 |
886 | N>S | lung pancreas [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001268613 rs1900820269 |
887 | L>missing | No |
ClinVar dbSNP |
|
|
rs1309768715 CA394709624 |
889 | G>* | No |
ClinGen gnomAD |
|
| VAR_067738 | 889 | G>E | found in a cutaneous malignant melanoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA394709626 rs1309768715 |
889 | G>R | No |
ClinGen gnomAD |
|
|
CA394709619 COSM1135865 rs1241660491 |
890 | S>P | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1555482946 CA394709612 COSM109179 |
891 | Q>* | NS [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1296700089 CA394709602 |
892 | S>N | No |
ClinGen gnomAD |
|
|
CA394709586 rs1350556261 |
894 | M>I | No |
ClinGen gnomAD |
|
|
rs775144380 CA7896439 |
894 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394709588 rs775144380 |
894 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775144380 CA394709587 |
894 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 894 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394709574 rs1436853714 |
896 | K>* | No |
ClinGen gnomAD |
|
|
CA277538662 rs766603575 |
897 | L>P | No |
ClinGen Ensembl |
|
|
RCV000479065 rs759145938 CA7896438 |
899 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA394709553 rs1596377696 RCV000996203 |
900 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7896437 rs773996543 |
901 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555482934 CA394709541 |
902 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 903 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 903 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771035775 CA7896436 |
904 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1281919606 CA394709519 |
905 | S>A | No |
ClinGen TOPMed |
|
|
CA394709518 rs1488512845 |
905 | S>Y | No |
ClinGen gnomAD |
|
|
CA7896435 rs749220456 |
906 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs777737583 CA7896434 |
909 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1286684467 CA394709481 |
910 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394709482 rs1286684467 |
910 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394709470 rs1209627670 |
911 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 913 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555482923 CA394709457 |
914 | R>* | No |
ClinGen Ensembl |
|
|
CA394709447 rs1420605035 |
915 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7896431 rs780378454 |
915 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA7896429 rs533512756 |
916 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7896430 rs758542448 |
916 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555482911 CA394709426 |
919 | K>* | No |
ClinGen Ensembl |
|
|
rs1555482909 CA394709419 |
920 | R>* | No |
ClinGen Ensembl |
|
| VAR_067739 | 920 | R>K | found in a cutaneous malignant melanoma sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 920 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419416460 CA394709412 |
921 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200037904 CA7896426 |
922 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394709397 rs1396902143 |
923 | D>E | No |
ClinGen TOPMed |
|
|
CA394709378 rs1555482895 |
926 | Q>* | No |
ClinGen Ensembl |
|
|
rs761044372 CA394709372 |
927 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA7896424 rs752992319 |
927 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_067740 CA7896423 COSM107839 rs767268773 |
929 | S>F | Variant assessed as Somatic; 0.0 impact. skin found in a cutaneous malignant melanoma sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7896422 rs759235765 |
931 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1215825826 CA394709345 |
931 | I>S | No |
ClinGen gnomAD |
|
|
CA394709349 rs1393475387 |
931 | I>V | No |
ClinGen TOPMed |
|
|
TCGA novel CA314958 RCV000187649 rs765941753 |
932 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC dbSNP gnomAD NCI-TCGA |
|
CA277538534 rs1050421930 |
932 | M>T | No |
ClinGen Ensembl |
|
|
CA7896421 rs758671206 |
932 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277538505 rs540019898 |
934 | M>K | No |
ClinGen 1000Genomes |
|
|
rs923195287 CA277538500 |
935 | V>A | No |
ClinGen Ensembl |
|
|
CA394709322 rs1335676858 |
935 | V>F | No |
ClinGen TOPMed |
|
|
rs1555482883 CA394709305 |
938 | K>* | No |
ClinGen Ensembl |
|
|
rs776257994 CA7896416 |
940 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555482879 CA394709283 |
941 | L>* | No |
ClinGen Ensembl |
|
|
CA7896415 rs772385154 |
941 | L>F | No |
ClinGen ExAC |
|
|
CA394709277 rs1399998162 |
942 | M>R | No |
ClinGen gnomAD |
|
|
rs746041907 CA7896414 |
943 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1064797025 RCV000480276 CA16620320 |
944 | S>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001172097 rs1900803126 |
944 | S>P | No |
ClinVar dbSNP |
|
|
CA7896413 rs778996050 |
945 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1305013569 CA394709260 |
945 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1232959576 CA394709238 |
948 | S>T | No |
ClinGen TOPMed |
|
|
CA314952 rs1555482861 |
950 | Q>* | No |
ClinGen Ensembl |
|
|
CA394709210 rs1555482852 |
952 | K>* | No |
ClinGen Ensembl |
|
|
CA394709202 rs1555482851 |
953 | E>* | No |
ClinGen Ensembl |
|
|
CA7896412 rs749810424 |
953 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA277538426 rs111354251 |
954 | S>G | No |
ClinGen gnomAD |
|
|
CA394709185 rs1249626887 |
955 | I>M | No |
ClinGen TOPMed |
|
|
CA394709187 rs778404336 |
955 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394709174 rs1555482839 |
957 | G>* | No |
ClinGen Ensembl |
|
| TCGA novel | 958 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3818766 CA277538419 rs868771153 |
960 | M>I | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1445257808 CA394709152 |
960 | M>K | No |
ClinGen gnomAD |
|
|
rs765370528 CA394709139 |
962 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA277538406 VAR_067741 rs765370528 COSM109143 |
962 | E>K | lung large_intestine Variant assessed as Somatic; impact. skin meninges found in a cutaneous malignant melanoma sample; somatic mutation [Cosmic, NCI-TCGA, UniProt] | No |
ClinGen cosmic curated UniProt Ensembl NCI-TCGA dbSNP |
|
rs765370528 CA277538390 |
962 | E>Q | No |
ClinGen Ensembl |
|
|
rs1395645259 CA394709131 |
963 | L>F | No |
ClinGen TOPMed |
|
|
RCV000328046 rs886042168 |
964 | Q>missing | No |
ClinVar dbSNP |
|
|
CA394709127 rs751186803 |
964 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7896407 rs751186803 |
964 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs751186803 CA7896408 |
964 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 966 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 966 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394709108 rs61731465 |
967 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| VAR_079939 | 968 | A>T | probable disease-associated variant found in a patient with schizophrenia [UniProt] | No | UniProt |
|
rs765257420 CA7896405 COSM975080 |
970 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA394709085 rs1555482817 |
971 | Q>* | No |
ClinGen Ensembl |
|
|
CA394709077 rs1555482811 |
972 | K>* | No |
ClinGen Ensembl |
|
|
CA394709065 rs1226843957 |
973 | D>E | No |
ClinGen gnomAD |
|
|
rs1900795341 RCV001091969 |
973 | D>N | No |
ClinVar dbSNP |
|
|
rs1445070010 CA394709043 |
976 | N>K | No |
ClinGen TOPMed |
|
|
RCV000600362 rs1555482808 CA394709039 |
977 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs948782419 CA277538262 |
978 | Y>C | No |
ClinGen TOPMed |
|
|
rs548589120 CA277538244 |
979 | V>I | No |
ClinGen 1000Genomes TOPMed |
|
|
CA394709028 rs548589120 |
979 | V>L | No |
ClinGen 1000Genomes TOPMed |
|
| TCGA novel | 980 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394709015 rs1555482803 |
981 | Q>* | No |
ClinGen Ensembl |
|
|
rs1567278391 CA394709011 |
981 | Q>R | No |
ClinGen Ensembl |
|
|
rs1555482802 CA394709005 |
982 | G>* | No |
ClinGen Ensembl |
|
|
rs768295624 CA7896402 |
982 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA394709000 rs1555482800 |
983 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 984 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7896401 rs746095246 |
987 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1555482795 CA394708955 |
990 | E>* | No |
ClinGen Ensembl |
|
|
rs916022207 CA277538190 |
992 | N>K | No |
ClinGen TOPMed |
|
|
CA7896397 rs749438401 |
995 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs777687136 COSM212453 CA7896396 |
995 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1201972116 CA394708914 |
996 | V>M | No |
ClinGen gnomAD |
|
|
rs1555482789 CA394708908 |
997 | E>* | No |
ClinGen Ensembl |
|
|
rs755332991 CA7896392 |
997 | E>D | No |
ClinGen ExAC gnomAD |
|
|
VAR_079940 rs1258974659 CA394708902 |
998 | V>M | found in a patient with schizophrenia; unknown pathological significance [UniProt] | No |
ClinGen UniProt dbSNP gnomAD |
|
CA394708897 rs1195264315 |
999 | A>T | No |
ClinGen gnomAD |
|
|
rs749997301 CA394708870 |
1002 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749997301 CA7896388 |
1002 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs749997301 CA394708871 |
1002 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM289688 CA394708869 rs1555482781 |
1003 | E>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA394708855 rs1555482774 |
1005 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1005 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555482761 CA394708827 |
1009 | R>* | No |
ClinGen Ensembl |
|
|
rs1407733149 CA394708823 |
1009 | R>S | No |
ClinGen Ensembl |
|
|
rs753651908 CA277538083 |
1010 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA394708811 rs1555482748 |
1012 | Q>* | No |
ClinGen Ensembl |
|
|
rs1555482745 CA394708797 |
1014 | W>* | No |
ClinGen Ensembl |
|
|
rs1306036000 CA394708793 |
1014 | W>C | No |
ClinGen gnomAD |
|
|
rs1555482743 CA394708791 |
1015 | K>* | No |
ClinGen Ensembl |
|
|
CA394708787 rs1180224224 |
1015 | K>R | No |
ClinGen gnomAD |
|
|
rs1555482740 CA394708782 |
1016 | K>* | No |
ClinGen Ensembl |
|
|
rs933333894 CA277537930 |
1019 | D>N | No |
ClinGen Ensembl |
|
|
rs977994581 CA277537915 |
1020 | S>F | No |
ClinGen TOPMed |
|
|
CA394708743 COSM172364 rs1349281989 |
1022 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs748697551 CA394708739 |
1023 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748697551 CA7896378 |
1023 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596376846 CA394708723 |
1025 | S>T | No |
ClinGen Ensembl |
|
|
rs1363361753 CA394708718 |
1026 | L>V | No |
ClinGen TOPMed |
|
|
rs769279188 CA7896376 |
1027 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA7896374 rs780542669 |
1029 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs747415328 CA7896375 |
1029 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA277537889 rs569342611 |
1031 | V>L | No |
ClinGen gnomAD |
|
|
CA277537878 rs966623983 |
1033 | Q>R | No |
ClinGen TOPMed |
|
|
rs540445580 CA277537873 |
1035 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555482679 CA394708657 |
1036 | E>* | No |
ClinGen Ensembl |
|
|
rs925208428 CA277537868 |
1038 | T>I | No |
ClinGen Ensembl |
|
|
rs778490114 CA394708633 |
1040 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1040 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753376881 CA7896369 |
1041 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA394708617 CA7896366 rs142053517 |
1042 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394708611 rs1567277910 |
1043 | T>I | No |
ClinGen Ensembl |
|
|
CA394708606 rs1452486107 |
1044 | H>R | No |
ClinGen gnomAD |
|
|
CA277537767 rs989161420 |
1045 | S>Y | No |
ClinGen TOPMed |
|
|
CA7896364 rs763270712 |
1046 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA394708597 rs763270712 |
1046 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555482653 CA394708591 |
1047 | K>* | No |
ClinGen Ensembl |
|
|
rs770039926 RCV000658738 CA7896362 |
1047 | K>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs201716879 CA7896361 |
1051 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555482651 CA394708534 |
1054 | E>* | No |
ClinGen Ensembl |
|
|
rs370107080 CA394708517 |
1055 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7896359 CA7896358 rs747468312 |
1055 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA394708501 rs1221693782 |
1056 | M>T | No |
ClinGen gnomAD |
|
|
CA7896357 rs780595948 |
1057 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA394708491 rs1187237144 COSM1380661 |
1057 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1190495786 CA394708472 |
1058 | H>L | No |
ClinGen TOPMed |
|
|
CA277537696 rs988036800 |
1058 | H>N | No |
ClinGen TOPMed |
|
|
CA277537686 rs988036800 |
1058 | H>Y | No |
ClinGen TOPMed |
|
|
CA7896356 rs772497745 |
1059 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs954863522 CA277537672 |
1061 | I>N | No |
ClinGen TOPMed |
|
|
rs1222305391 CA394708445 |
1061 | I>V | No |
ClinGen gnomAD |
|
|
rs1555482636 CA394708419 |
1063 | E>* | No |
ClinGen Ensembl |
|
|
CA277537664 rs1026907481 |
1063 | E>A | No |
ClinGen TOPMed |
|
|
CA7896355 rs138809301 |
1064 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA277537623 rs991874779 |
1065 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA394708409 rs991874779 |
1065 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394708405 rs1464623074 |
1066 | N>D | No |
ClinGen Ensembl |
|
|
CA394708376 rs1555482616 |
1070 | C>* | No |
ClinGen Ensembl |
|
|
CA315019 rs1555482618 |
1070 | C>S | No |
ClinGen Ensembl |
|
|
rs377746289 CA277537572 |
1072 | R>K | No |
ClinGen ESP |
|
|
rs1900768625 RCV001091967 |
1073 | E>missing | No |
ClinVar dbSNP |
|
|
CA394708358 rs1555482609 |
1073 | E>* | No |
ClinGen Ensembl |
|
| VAR_067742 | 1073 | E>K | found in a cutaneous malignant melanoma sample; somatic mutation [UniProt] | No | UniProt |
|
COSM108601 rs867432846 VAR_067743 CA277537560 |
1074 | P>L | skin found in a cutaneous malignant melanoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
rs1177431276 CA394708347 |
1075 | D>N | No |
ClinGen gnomAD |
|
|
rs1427368529 CA394708328 |
1077 | S>I | No |
ClinGen gnomAD |
|
|
CA394708330 rs1427368529 |
1077 | S>N | No |
ClinGen gnomAD |
|
|
CA394708326 rs1196431210 |
1077 | S>R | No |
ClinGen gnomAD |
|
|
rs1416184766 CA394708323 |
1078 | K>* | No |
ClinGen TOPMed |
|
|
rs1416184766 CA394708324 |
1078 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 1078 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765447838 CA394708301 |
1081 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs765447838 CA7896348 |
1081 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1555482593 CA394708287 |
1083 | K>* | No |
ClinGen Ensembl |
|
|
CA7896345 rs764204930 CA394708282 |
1083 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7896344 rs761296880 |
1084 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1085 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200172603 CA277537515 |
1086 | F>S | No |
ClinGen 1000Genomes |
|
|
CA394708252 rs1487356919 |
1087 | K>N | No |
ClinGen TOPMed |
|
|
rs1260275472 CA394708259 |
1087 | K>Q | No |
ClinGen TOPMed |
|
|
rs1064796981 RCV000482727 CA16620318 |
1089 | S>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1320797353 CA394708237 |
1090 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394708228 rs1279591281 |
1091 | A>V | No |
ClinGen gnomAD |
|
|
rs1555482577 CA394708221 |
1093 | K>* | No |
ClinGen Ensembl |
|
|
rs1180524992 CA394708212 |
1094 | Y>H | No |
ClinGen TOPMed |
|
|
CA394708200 rs1410758105 |
1095 | P>L | No |
ClinGen TOPMed |
|
|
CA394708198 rs1555482570 |
1096 | K>* | No |
ClinGen Ensembl |
|
|
CA277537493 rs773991023 |
1096 | K>M | No |
ClinGen Ensembl |
|
| TCGA novel | 1097 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA315021 rs1555482566 |
1097 | D>G | No |
ClinGen Ensembl |
|
|
rs1555482555 CA394708180 |
1098 | C>* | No |
ClinGen Ensembl |
|
|
rs1420268399 CA394708170 |
1100 | E>* | No |
ClinGen TOPMed |
|
|
CA394708166 rs1268346603 |
1100 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM3937224 rs1420268399 CA394708168 |
1100 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA394708165 rs1268346603 |
1100 | E>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1101 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770546037 CA394708155 |
1102 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA7896339 rs770546037 |
1102 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA314968 rs748879665 RCV000187654 |
1103 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA16620317 rs1064796904 RCV000479217 |
1103 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs755577016 CA7896337 |
1104 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394708129 rs1429228993 |
1106 | L>R | No |
ClinGen gnomAD |
|
|
rs1555482535 CA394708126 |
1107 | K>* | No |
ClinGen Ensembl |
|
|
rs1555482528 CA394708112 |
1109 | K>* | No |
ClinGen Ensembl |
|
|
CA621175135 rs1371053098 |
1109 | K>IF* | No |
ClinGen gnomAD |
|
| TCGA novel | 1109 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394708102 rs1244209721 |
1110 | S>* | No |
ClinGen gnomAD |
|
|
CA314970 rs796052555 RCV000187655 |
1111 | S>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA7896335 COSM311635 rs781151528 |
1111 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs796052555 CA394708096 |
1111 | S>T | No |
ClinGen gnomAD |
|
|
rs1436083069 CA394708091 |
1112 | S>Y | No |
ClinGen TOPMed |
|
|
COSM1520249 rs201698049 CA7896334 |
1113 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA394708082 rs1555482510 |
1114 | R>* | No |
ClinGen Ensembl |
|
|
rs1555482510 CA394708083 |
1114 | R>G | No |
ClinGen Ensembl |
|
|
rs1230022480 CA394708079 |
1114 | R>S | No |
ClinGen gnomAD |
|
|
CA314972 COSM1253747 rs1555482504 |
1114 | R>T | oesophagus Variant assessed as Somatic; impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs751372210 CA7896333 CA277537425 |
1115 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs796052557 CA394708075 |
1115 | D>G | No |
ClinGen gnomAD |
|
|
rs1006805133 CA277537427 |
1115 | D>H | No |
ClinGen Ensembl |
|
|
rs796052557 CA314974 RCV000187657 |
1115 | D>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
COSM225733 CA394708071 rs1313058740 |
1116 | K>* | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA394708072 rs1313058740 |
1116 | K>E | No |
ClinGen TOPMed |
|
|
COSM343237 CA394708066 rs766142005 |
1116 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs1462511588 CA394708058 |
1117 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 1118 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1120 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7896330 rs754074897 |
1121 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7896331 rs757427207 |
1121 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7896329 rs760885908 |
1122 | G>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1128836 rs775679737 CA394708026 |
1123 | E>* | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA394708024 rs1239554350 |
1123 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1239554350 CA394708023 |
1123 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7896328 rs775679737 |
1123 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA394708018 rs1555482466 |
1124 | K>* | No |
ClinGen Ensembl |
|
|
rs1200593226 CA394708010 COSM559587 |
1125 | E>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1200593226 CA394708012 |
1125 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394708000 rs1230714956 |
1126 | P>R | No |
ClinGen gnomAD |
|
|
rs767974762 CA7896327 |
1126 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394707998 rs1360004561 |
1127 | G>S | No |
ClinGen gnomAD |
|
|
CA7896325 rs774589370 |
1129 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_071627 | 1132 | P>L | found in a cutaneous malignant melanoma sample [UniProt] | No | UniProt |
|
rs771257899 CA7896324 |
1132 | P>T | No |
ClinGen ExAC gnomAD |
|
| VAR_071628 | 1133 | P>S | found in a cutaneous malignant melanoma sample [UniProt] | No | UniProt |
|
CA394707949 rs748967552 |
1134 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394707927 rs1372666082 |
1137 | E>* | No |
ClinGen gnomAD |
|
|
rs1372666082 CA394707928 |
1137 | E>Q | No |
ClinGen gnomAD |
|
|
CA394707924 rs1296578905 |
1137 | E>V | No |
ClinGen gnomAD |
|
|
CA394707909 rs1265897228 |
1139 | V>G | No |
ClinGen gnomAD |
|
|
CA7896322 rs772799061 |
1140 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163517430 CA394707896 |
1142 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394707891 rs61758996 |
1143 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746900457 CA394707879 |
1144 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7896316 rs779746293 COSM1302381 |
1145 | V>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1146 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7896315 rs140536516 |
1148 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394707853 rs140536516 |
1148 | P>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394707843 rs1173762597 |
1150 | P>T | No |
ClinGen TOPMed |
|
|
CA315023 rs1555482433 |
1151 | Y>N | No |
ClinGen Ensembl |
|
|
CA394707833 rs1490371319 |
1151 | Y>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1151 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555482427 CA394707730 |
1152 | Q>* | No |
ClinGen Ensembl |
|
|
CA394707721 rs1085307669 RCV000488954 |
1152 | Q>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA394707728 rs1268024101 |
1152 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA277537260 COSM109634 VAR_067744 rs267604687 |
1153 | D>N | Variant assessed as Somatic; impact. skin found in a cutaneous malignant melanoma sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt Ensembl NCI-TCGA dbSNP |
|
CA394707689 rs1412461359 |
1154 | P>L | No |
ClinGen TOPMed |
|
|
rs750221539 CA7896314 |
1155 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA394707666 rs1555482417 |
1156 | E>* | No |
ClinGen Ensembl |
|
|
rs1261134798 CA394707661 |
1156 | E>G | No |
ClinGen gnomAD |
|
|
CA7896312 rs749175723 |
1157 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1157 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394707605 rs752062763 |
1160 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752062763 CA7896308 |
1160 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394707575 rs1303071374 |
1162 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 1166 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA277537203 rs999523910 |
1168 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394707470 rs1453534484 |
1170 | N>H | No |
ClinGen gnomAD |
|
|
rs768174483 CA7896302 |
1171 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768174483 CA7896301 |
1171 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1177807348 CA394707456 |
1172 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs746944419 CA7896300 |
1172 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA394707447 rs1308402838 |
1173 | H>Q | No |
ClinGen TOPMed |
|
|
rs199975988 CA277537159 |
1173 | H>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7896299 rs772104446 |
1174 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394707438 rs867464241 |
1175 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM107381 VAR_067745 CA277537117 rs867464241 |
1175 | E>K | Variant assessed as Somatic; impact. skin breast found in a cutaneous malignant melanoma sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt Ensembl NCI-TCGA dbSNP |
|
rs1555482388 COSM3818763 CA394707429 |
1176 | E>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA7896294 rs752894839 |
1179 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200950335 CA277537053 |
1180 | N>D | No |
ClinGen 1000Genomes |
|
|
rs972229279 CA277537043 |
1180 | N>S | No |
ClinGen TOPMed |
|
|
CA277537032 rs963586639 |
1182 | D>A | No |
ClinGen TOPMed |
|
|
CA394707388 rs1555482367 |
1183 | Q>* | No |
ClinGen Ensembl |
|
|
rs587780354 CA394707373 |
1185 | K>* | No |
ClinGen Ensembl |
|
|
CA153038 rs587780354 RCV000117186 |
1185 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7896290 rs763440308 |
1186 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555482361 CA394707346 |
1189 | K>* | No |
ClinGen Ensembl |
|
|
CA394707336 rs1396587099 |
1190 | H>L | No |
ClinGen TOPMed |
|
|
CA7896288 rs765522252 |
1190 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394707321 rs1304220791 |
1192 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394707318 rs75761674 |
1193 | L>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1016506983 CA394707320 |
1193 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7896285 rs774858773 |
1194 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA394707297 rs1555482346 |
1196 | K>* | No |
ClinGen Ensembl |
|
|
rs868033792 CA277536949 |
1197 | G>D | No |
ClinGen Ensembl |
|
|
CA277536955 rs867030174 |
1197 | G>S | No |
ClinGen Ensembl |
|
|
CA7896282 rs774291111 |
1200 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA7896281 rs748338352 |
1201 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs748338352 CA7896280 |
1201 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1555482336 CA394707260 |
1202 | E>* | No |
ClinGen Ensembl |
|
|
rs1555482336 RCV001256098 |
1202 | E>Q | No |
ClinVar dbSNP |
|
|
rs1461901808 CA394707249 |
1203 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs796052558 RCV000187662 CA394707242 CA314984 |
1204 | S>R | No |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
|
rs918332999 CA394707240 |
1205 | E>* | No |
ClinGen Ensembl |
|
|
rs918332999 CA277536889 |
1205 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1555482324 COSM79196 CA394707233 |
1206 | R>* | ovary large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA7896278 rs145861983 COSM1380655 |
1206 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs780055204 CA7896277 |
1208 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78544202 CA394707222 |
1208 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555482312 CA394707218 |
1209 | Q>* | No |
ClinGen Ensembl |
|
|
COSM705245 rs1042202486 CA277536849 |
1212 | T>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs757691776 CA7896273 |
1213 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394707179 rs763873428 |
1214 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs754121731 CA7896272 |
1214 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1555482298 CA394707177 |
1215 | R>* | No |
ClinGen Ensembl |
|
|
CA7896270 rs367543134 |
1216 | S>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000996202 CA394707155 rs1596375400 |
1218 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs909465034 CA277536815 |
1219 | S>F | No |
ClinGen Ensembl |
|
|
rs767067753 CA7896269 |
1221 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA277536797 rs893718815 |
1221 | M>V | No |
ClinGen TOPMed |
|
|
CA394707130 rs1242698676 |
1222 | P>A | No |
ClinGen gnomAD |
|
|
rs759574912 CA7896268 |
1222 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7896266 rs770966136 |
1223 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7896264 rs772873242 |
1227 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1265808274 CA394707091 |
1228 | F>S | No |
ClinGen gnomAD |
|
|
CA394707083 rs1312451714 |
1229 | T>I | No |
ClinGen gnomAD |
|
|
rs1399572684 CA394707080 |
1230 | M>V | No |
ClinGen TOPMed |
|
|
RCV000364483 rs886041308 |
1234 | F>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1234 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA225875 RCV000084753 rs367543133 |
1234 | F>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1443971497 CA394707051 |
1234 | F>Y | No |
ClinGen gnomAD |
|
|
rs1555482276 CA394707045 |
1235 | K>* | No |
ClinGen Ensembl |
|
|
rs1284100964 CA394707043 |
1235 | K>R | No |
ClinGen TOPMed |
|
|
CA394707034 COSM975074 rs780909404 |
1236 | C>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA394707032 COSM232449 rs1389208302 |
1237 | D>N | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA394707012 rs1284412439 |
1239 | C>* | No |
ClinGen TOPMed |
|
|
CA394707008 rs1487682603 |
1240 | L>Q | No |
ClinGen TOPMed |
|
|
rs1303700994 CA394707004 |
1241 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394706992 rs1213959880 |
1242 | M>I | No |
ClinGen TOPMed |
|
|
CA394706997 rs1383221934 |
1242 | M>K | No |
ClinGen gnomAD |
|
|
CA394706998 rs1423751165 |
1242 | M>L | No |
ClinGen gnomAD |
|
|
CA394706987 rs1471308483 |
1243 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745928545 CA7896261 |
1243 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA315025 RCV000187684 rs754286517 |
1249 | D>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA394706947 rs1286071613 |
1249 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394706940 rs1555482239 |
1250 | E>* | No |
ClinGen Ensembl |
|
|
rs1555482237 CA394706924 |
1252 | Q>* | No |
ClinGen Ensembl |
|
|
CA7896258 rs367548624 |
1252 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1366642108 CA394706919 |
1253 | M>L | No |
ClinGen TOPMed |
|
|
rs1555482232 CA394706902 |
1255 | Q>* | No |
ClinGen Ensembl |
|
|
rs866748846 CA394706895 |
1256 | E>* | No |
ClinGen gnomAD |
|
|
COSM1708737 rs866748846 CA277536704 |
1256 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 1257 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394706883 rs1159089801 |
1258 | G>S | No |
ClinGen TOPMed |
|
|
rs56241810 CA277536699 |
1258 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 1259 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1261 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7896257 rs587780351 |
1262 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM325446 rs142113044 CA7896255 |
1263 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1555482222 CA394706844 |
1264 | E>* | No |
ClinGen Ensembl |
|
|
rs1377552077 CA394706836 |
1265 | Q>* | No |
ClinGen TOPMed |
|
|
CA394706837 rs1377552077 |
1265 | Q>E | No |
ClinGen TOPMed |
|
|
rs758615952 CA277536658 |
1266 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA314988 rs758615952 RCV000187664 |
1266 | V>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs758615952 CA7896253 |
1266 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA394706824 rs1333994593 |
1267 | Y>C | No |
ClinGen TOPMed |
|
|
rs1555482217 CA394706818 |
1268 | Q>* | No |
ClinGen Ensembl |
|
|
rs766488132 CA7896252 |
1268 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA394706813 rs1555482216 |
1269 | Q>* | No |
ClinGen Ensembl |
|
|
CA277536585 COSM108603 rs267604686 |
1271 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA10605142 RCV000361693 COSM108603 rs886043129 |
1271 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1363459634 CA394706790 |
1272 | A>P | No |
ClinGen gnomAD |
|
|
rs762745084 CA394706784 |
1273 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs762745084 CA7896251 |
1273 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA277536566 rs564962551 |
1273 | Q>R | No |
ClinGen Ensembl |
|
|
CA7896249 rs760983091 |
1277 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394706756 rs1471646319 |
1277 | L>P | No |
ClinGen gnomAD |
|
|
rs1555482204 CA394706751 |
1278 | Q>* | No |
ClinGen Ensembl |
|
|
CA394706736 rs1555482197 |
1280 | Q>* | No |
ClinGen Ensembl |
|
|
rs1200752172 CA394706728 |
1281 | K>* | No |
ClinGen gnomAD |
|
|
rs1200752172 CA394706729 |
1281 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1282 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394706718 rs1480366023 |
1282 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1555482189 CA394706712 |
1283 | K>* | No |
ClinGen Ensembl |
|
|
rs1453409362 CA394706703 |
1284 | L>P | No |
ClinGen gnomAD |
|
|
COSM1380653 rs778951185 CA7896246 |
1288 | R>H | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1555482178 CA394706674 |
1289 | Q>* | No |
ClinGen Ensembl |
|
|
CA7896245 rs771482705 |
1290 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA394706656 rs1325032512 |
1291 | S>F | No |
ClinGen gnomAD |
|
|
CA394706648 rs778230379 |
1293 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA7896243 rs778230379 |
1293 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA277536485 rs778230379 |
1293 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7896242 rs756382250 |
1294 | N>S | No |
ClinGen ExAC |
|
|
rs757351084 CA277536466 |
1295 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277536473 rs933066755 |
1295 | I>V | No |
ClinGen TOPMed |
|
|
rs1439140081 CA394706621 |
1297 | D>G | No |
ClinGen TOPMed |
|
|
CA394706624 rs1431125566 |
1297 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1431125566 CA394706625 |
1297 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394706623 rs1431125566 |
1297 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394706615 rs1555482165 |
1298 | K>* | No |
ClinGen Ensembl |
|
|
CA394706606 rs1156972587 |
1299 | P>H | No |
ClinGen TOPMed |
|
|
CA394706601 rs1317908832 |
1300 | R>T | No |
ClinGen gnomAD |
|
|
rs754669800 CA7896240 |
1301 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA7896237 rs762982217 |
1304 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1172222657 CA394706568 |
1305 | S>T | No |
ClinGen TOPMed |
|
|
CA7896235 rs368627311 |
1306 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1188859709 CA394706561 |
1306 | R>S | No |
ClinGen gnomAD |
|
|
CA394706550 rs1393526899 |
1308 | S>F | No |
ClinGen TOPMed |
|
|
CA7896233 rs145602289 |
1309 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA277536427 rs963554909 |
1310 | S>I | No |
ClinGen TOPMed |
|
|
rs1403990996 CA394706544 |
1310 | S>R | No |
ClinGen gnomAD |
|
|
rs772340081 CA7896232 |
1311 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs267604685 CA394706526 |
1312 | S>R | No |
ClinGen TOPMed |
|
|
CA394706528 rs1462339220 |
1312 | S>T | No |
ClinGen gnomAD |
|
|
rs375287911 CA394706524 |
1313 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375287911 CA277536406 |
1313 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA394706517 rs1555482148 |
1314 | K>* | No |
ClinGen Ensembl |
|
|
rs759696882 CA394706511 |
1315 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759696882 CA7896231 |
1315 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394706495 rs1555482145 |
1317 | E>* | No |
ClinGen Ensembl |
|
|
rs774419037 CA394706489 |
1318 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866152574 CA277536368 |
1319 | L>I | No |
ClinGen Ensembl |
|
|
CA394706475 rs370754278 |
1321 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394706472 rs1257308309 |
1321 | E>A | No |
ClinGen TOPMed |
|
|
rs1257308309 CA394706474 |
1321 | E>G | No |
ClinGen TOPMed |
|
|
rs1555482135 CA394706467 |
1322 | G>* | No |
ClinGen Ensembl |
|
|
CA394706460 rs1456436673 |
1323 | N>S | No |
ClinGen TOPMed |
|
|
CA277536355 rs1036750557 |
1326 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA394706439 rs1268143219 |
1326 | G>S | No |
ClinGen gnomAD |
|
|
CA394706424 rs1596374645 |
1328 | L>P | No |
ClinGen Ensembl |
|
|
rs1567275622 CA394706421 |
1329 | F>I | No |
ClinGen Ensembl |
|
|
rs1164376588 CA394706418 |
1329 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 1330 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596374624 CA394706409 RCV000996201 |
1330 | S>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1333 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394706383 rs1385173240 |
1334 | S>T | No |
ClinGen gnomAD |
|
|
CA394706377 rs1555482120 |
1335 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1336 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394706358 rs1555482116 |
1337 | S>* | No |
ClinGen Ensembl |
|
|
CA277536286 rs754258505 |
1338 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs781677674 CA7896225 |
1338 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394706336 rs754686222 |
1339 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs754686222 CA7896224 |
1339 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394706306 rs779641000 |
1340 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779641000 CA7896221 |
1340 | K>E | No |
ClinGen ExAC gnomAD |
|
| rs761213659 | 1341 | S>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749919548 CA7896219 |
1341 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7896220 rs757898035 |
1341 | S>T | No |
ClinGen ExAC |
|
|
CA394706263 rs1446827645 |
1343 | L>H | No |
ClinGen gnomAD |
|
|
TCGA novel CA394706256 rs1596374520 |
1344 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1555482100 CA394706246 |
1346 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1346 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555482091 CA394706225 |
1349 | E>* | No |
ClinGen Ensembl |
|
|
rs1171916093 CA394706210 |
1351 | S>G | No |
ClinGen TOPMed |
|
|
rs1555482085 CA394706201 |
1352 | K>* | No |
ClinGen Ensembl |
|
|
CA7896216 rs753647469 |
1352 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1187451026 CA394706191 |
1353 | R>S | No |
ClinGen gnomAD |
|
|
rs1555482079 CA394706179 |
1355 | K>* | No |
ClinGen Ensembl |
|
|
RCV000187669 rs796052559 CA314996 |
1355 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7896215 rs763809945 |
1357 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA394706161 rs1555482074 |
1358 | L>* | No |
ClinGen Ensembl |
|
|
CA394706154 rs1270800004 |
1359 | P>S | No |
ClinGen gnomAD |
|
|
RCV000194066 rs797045606 CA207978 |
1361 | H>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA394706142 rs797045606 |
1361 | H>N | No |
ClinGen gnomAD |
|
|
CA277536188 rs77282679 |
1362 | T>P | No |
ClinGen Ensembl |
|
|
CA394706133 rs1465067482 |
1362 | T>S | No |
ClinGen gnomAD |
|
|
CA394706124 rs1245573153 |
1364 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766598240 CA7896212 |
1366 | P>A | No |
ClinGen ExAC gnomAD |
|
| VAR_067749 | 1366 | P>L | found in a cutaneous malignant melanoma sample; somatic mutation [UniProt] | No | UniProt |
|
COSM3361969 RCV000423593 rs766598240 CA16607504 |
1366 | P>S | kidney [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA394706089 rs1567275428 |
1369 | H>Y | No |
ClinGen Ensembl |
|
|
CA394706082 rs1443062815 |
1370 | S>P | No |
ClinGen gnomAD |
|
|
CA394706080 rs762981158 |
1370 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394706062 rs1306734992 |
1372 | R>S | No |
ClinGen gnomAD |
|
|
CA394706032 COSM3795252 rs1426934537 |
1376 | R>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA277536138 rs544975518 |
1376 | R>H | No |
ClinGen Ensembl |
|
|
CA7896210 rs773333556 |
1377 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386324916 CA394706025 |
1377 | L>V | No |
ClinGen gnomAD |
|
|
rs959225527 CA277536129 |
1379 | I>T | No |
ClinGen TOPMed |
|
|
CA277536119 rs867820641 |
1380 | G>R | No |
ClinGen Ensembl |
|
|
rs1555482036 CA394705985 |
1382 | C>* | No |
ClinGen Ensembl |
|
|
rs777171195 CA7896207 |
1382 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs769095466 CA7896206 |
1382 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1003306588 CA277536082 |
1383 | P>S | No |
ClinGen TOPMed |
|
|
rs866228360 CA394705971 |
1384 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs866228360 CA277536075 |
1384 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394705955 rs1277391984 |
1386 | P>H | No |
ClinGen TOPMed |
|
|
CA277536051 rs78444267 |
1387 | Y>N | No |
ClinGen Ensembl |
|
|
rs1490443176 CA394705939 |
1388 | K>* | No |
ClinGen gnomAD |
|
|
rs1490443176 CA394705940 |
1388 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 1389 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394705921 rs377337296 |
1390 | S>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA277536018 rs377337296 |
1390 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs377337296 CA7896203 |
1390 | S>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394705916 rs1555482017 |
1391 | L>* | No |
ClinGen Ensembl |
|
|
CA394705905 rs1309428568 |
1392 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1555482011 CA394705891 |
1394 | Q>* | No |
ClinGen Ensembl |
|
|
CA394705881 rs199696775 |
1395 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407346368 CA394705876 |
1396 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 1397 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1399 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA277535958 rs866121846 COSM175923 |
1402 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1456715393 CA394705765 |
1403 | S>* | No |
ClinGen gnomAD |
|
|
CA394705763 rs1456715393 |
1403 | S>W | No |
ClinGen gnomAD |
|
|
rs868492773 CA277535949 |
1404 | S>F | No |
ClinGen Ensembl |
|
|
CA394705741 rs1555481994 |
1405 | L>* | No |
ClinGen Ensembl |
|
|
rs1417994203 CA394705733 |
1405 | L>F | No |
ClinGen gnomAD |
|
|
CA7896195 rs766574975 |
1407 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs763219483 CA394705696 |
1408 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763219483 CA7896194 |
1408 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394705671 rs1555481986 |
1410 | S>* | No |
ClinGen Ensembl |
|
| rs1555481986 | 1410 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555481982 CA394705638 |
1412 | C>* | No |
ClinGen Ensembl |
|
|
CA394705646 rs1262702313 |
1412 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1414 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201489076 CA277535897 |
1414 | R>G | No |
ClinGen gnomAD |
|
|
rs1456937724 CA394705613 |
1414 | R>T | No |
ClinGen TOPMed |
|
|
RCV000512766 CA394705567 rs1346618506 |
1417 | R>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA7896188 rs369508378 |
1417 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394705528 rs1297205218 |
1420 | N>H | No |
ClinGen TOPMed |
|
|
CA394705518 rs775911833 |
1420 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7896186 rs771637517 |
1420 | N>K | No |
ClinGen ExAC gnomAD |
|
| VAR_067750 | 1421 | D>N | found in a cutaneous malignant melanoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA394705444 rs976259560 |
1425 | S>* | No |
ClinGen gnomAD |
|
|
CA277535861 VAR_067751 COSM109484 rs976259560 |
1425 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium skin found in a cutaneous malignant melanoma sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt NCI-TCGA dbSNP gnomAD |
|
CA394705434 rs138415164 |
1426 | E>* | No |
ClinGen Ensembl |
|
|
rs1177916783 CA394705430 |
1426 | E>G | No |
ClinGen gnomAD |
|
|
VAR_067752 CA277535846 COSM106528 rs138415164 |
1426 | E>K | skin found in a cutaneous malignant melanoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
CA277535842 rs372746751 |
1432 | A>G | No |
ClinGen ESP |
|
|
rs1596374041 CA394705328 |
1432 | A>T | No |
ClinGen Ensembl |
|
|
RCV000521620 CA394705277 rs1555481948 |
1435 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394705224 rs1262244793 |
1438 | M>I | No |
ClinGen gnomAD |
|
|
rs1262772875 CA394705210 |
1439 | Y>F | No |
ClinGen TOPMed |
|
|
CA7896180 rs752489703 |
1440 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs767282709 COSM1609805 CA7896179 |
1441 | T>A | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs59975221 CA277535815 |
1442 | P>A | No |
ClinGen 1000Genomes TOPMed |
|
| TCGA novel | 1443 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7896177 rs765538398 |
1445 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs762028580 CA7896176 |
1447 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1555481924 CA394705117 |
1448 | C>* | No |
ClinGen Ensembl |
|
|
rs753964102 CA7896175 |
1448 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7896174 rs764756799 |
1448 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1555481917 CA394705098 |
1451 | R>* | No |
ClinGen Ensembl |
|
|
rs889055328 CA277535783 |
1451 | R>I | No |
ClinGen TOPMed |
|
|
COSM3402556 rs568622613 CA7896170 |
1452 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201707833 CA7896167 |
1453 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201707833 CA394705090 |
1453 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1169395855 CA394705079 |
1454 | Y>* | No |
ClinGen gnomAD |
|
|
CA394705075 rs1555481908 |
1455 | K>* | No |
ClinGen Ensembl |
|
|
CA394705067 rs1555481905 |
1456 | K>* | No |
ClinGen Ensembl |
|
|
CA277535732 rs933017490 |
1458 | P>L | No |
ClinGen TOPMed |
|
|
rs769629103 CA277535715 |
1460 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394705038 rs1394154823 |
1460 | I>T | No |
ClinGen TOPMed |
|
|
CA7896166 rs146055721 |
1460 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555481892 CA394705033 |
1461 | E>* | No |
ClinGen Ensembl |
|
|
rs1555481892 CA394705035 COSM298682 |
1461 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| VAR_067753 | 1462 | S>C | found in a cutaneous malignant melanoma sample; somatic mutation [UniProt] | No | UniProt |
3 associated diseases with Q12879
[MIM: 245570]: Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD)
An autosomal dominant, highly variable neurologic disorder. Features range from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and intellectual disability to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, intellectual disability and speech dyspraxia, and benign epilepsy with centrotemporal spikes. {ECO:0000269|PubMed:20890276, ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:23933818, ECO:0000269|PubMed:23933819, ECO:0000269|PubMed:23933820, ECO:0000269|PubMed:24504326, ECO:0000269|PubMed:24903190, ECO:0000269|PubMed:27839871, ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:28095420, ECO:0000269|PubMed:28126851, ECO:0000269|PubMed:28182669}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant, highly variable neurologic disorder. Features range from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and intellectual disability to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, intellectual disability and speech dyspraxia, and benign epilepsy with centrotemporal spikes. {ECO:0000269|PubMed:20890276, ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:23933818, ECO:0000269|PubMed:23933819, ECO:0000269|PubMed:23933820, ECO:0000269|PubMed:24504326, ECO:0000269|PubMed:24903190, ECO:0000269|PubMed:27839871, ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:28095420, ECO:0000269|PubMed:28126851, ECO:0000269|PubMed:28182669}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q12879
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ionotropic glutamate receptor, C-terminal | 431 - 828 | IPR001320 |
| domain | Receptor, ligand binding region | 106 - 272 | IPR001828 |
| domain | Glutamate [NMDA] receptor, epsilon subunit, C-terminal | 839 - 1464 | IPR018884 |
| domain | Ionotropic glutamate receptor, L-glutamate and glycine-binding domain | 439 - 539 | IPR019594 |
Functions
16 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of postsynaptic density membrane | The component of the postsynaptic density membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| NMDA selective glutamate receptor complex | An assembly of four or five subunits which form a structure with an extracellular N-terminus and a large loop that together form the ligand binding domain. The C-terminus is intracellular. The ionotropic glutamate receptor complex itself acts as a ligand gated ion channel; on binding glutamate, charged ions pass through a channel in the center of the receptor complex. NMDA receptors are composed of assemblies of NR1 subunits (Figure 3) and NR2 subunits, which can be one of four separate gene products (NR2A-D). Expression of both subunits are required to form functional channels. The glutamate binding domain is formed at the junction of NR1 and NR2 subunits. NMDA receptors are permeable to calcium ions as well as being permeable to other ions. Thus NMDA receptor activation leads to a calcium influx into the post-synaptic cells, a signal thought to be crucial for the induction of NMDA-receptor dependent LTP and LTD. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| postsynaptic density membrane | The membrane component of the postsynaptic density. This is the region of the postsynaptic membrane in which the population of neurotransmitter receptors involved in synaptic transmission are concentrated. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| presynaptic membrane | A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane. |
| synaptic membrane | A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| amyloid-beta binding | Binding to an amyloid-beta peptide/protein. |
| glutamate-gated calcium ion channel activity | Enables the transmembrane transfer of a calcium ion by a channel that opens when glutamate has been bound by the channel complex or one of its constituent parts. |
| ligand-gated ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. |
| NMDA glutamate receptor activity | An cation channel that opens in response to binding by extracellular glutmate, but only if glycine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages. |
| signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
| zinc ion binding | Binding to a zinc ion (Zn). |
33 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of cysteine-type endopeptidase activity | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| calcium ion transmembrane import into cytosol | A process in which a calcium ion is transported from one side of a membrane to the other into the cytosol by means of some agent such as a transporter or pore. |
| cation transmembrane transport | The process in which a cation is transported across a membrane. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| directional locomotion | Self-propelled movement of a cell or organism from one location to another along an axis. |
| dopamine metabolic process | The chemical reactions and pathways involving dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. |
| excitatory chemical synaptic transmission | Synaptic transmission that results in an excitatory postsynaptic potential. |
| excitatory postsynaptic potential | A process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. |
| glutamate receptor signaling pathway | The series of molecular signals initiated by the binding of glutamate to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| ionotropic glutamate receptor signaling pathway | The series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| learning or memory | The acquisition and processing of information and/or the storage and retrieval of this information over time. |
| long-term synaptic potentiation | A process that modulates synaptic plasticity such that synapses are changed resulting in the increase in the rate, or frequency of synaptic transmission at the synapse. |
| memory | The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). |
| negative regulation of protein catabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of protein catabolic process. |
| neurogenesis | Generation of cells within the nervous system. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of excitatory postsynaptic potential | Any process that enhances the establishment or increases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. |
| positive regulation of synaptic transmission, glutamatergic | Any process that activates, maintains or increases the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. |
| protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| protein localization to postsynaptic membrane | A process in which a protein is transported to, or maintained in, a location within a postsynaptic membrane. |
| regulation of cation transmembrane transport | Any process that modulates the frequency, rate or extent of cation transmembrane transport. |
| regulation of neuronal synaptic plasticity | A process that modulates neuronal synaptic plasticity, the ability of neuronal synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers. |
| regulation of synaptic plasticity | A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers. |
| response to amphetamine | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amphetamine stimulus. Amphetamines consist of a group of compounds related to alpha-methylphenethylamine. |
| response to ethanol | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ethanol stimulus. |
| response to wounding | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| sensory perception of pain | The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process. |
| serotonin metabolic process | The chemical reactions and pathways involving serotonin (5-hydroxytryptamine), a monoamine neurotransmitter occurring in the peripheral and central nervous systems, also having hormonal properties. |
| sleep | Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain. |
| startle response | An action or movement due to the application of a sudden unexpected stimulus. |
| visual learning | Any process in an organism in which a change in behavior of an individual occurs in response to repeated exposure to a visual cue. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O60391 | GRIN3B | Glutamate receptor ionotropic, NMDA 3B | Homo sapiens (Human) | PR |
| Q91ZU9 | Grin3b | Glutamate receptor ionotropic, NMDA 3B | Mus musculus (Mouse) | PR |
| Q8VHN2 | Grin3b | Glutamate receptor ionotropic, NMDA 3B | Rattus norvegicus (Rat) | PR |
| Q9SHV1 | GLR2.2 | Glutamate receptor 2.2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SHV2 | GLR2.3 | Glutamate receptor 2.3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O81776 | GLR2.4 | Glutamate receptor 2.4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O04660 | GLR2.1 | Glutamate receptor 2.1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O81078 | GLR2.9 | Glutamate receptor 2.9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SDQ4 | GLR3.7 | Glutamate receptor 3.7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q84W41 | GLR3.6 | Glutamate receptor 3.6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C8E7 | GLR3.3 | Glutamate receptor 3.3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGRVGYWTLL | VLPALLVWRG | PAPSAAAEKG | PPALNIAVML | GHSHDVTERE | LRTLWGPEQA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AGLPLDVNVV | ALLMNRTDPK | SLITHVCDLM | SGARIHGLVF | GDDTDQEAVA | QMLDFISSHT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FVPILGIHGG | ASMIMADKDP | TSTFFQFGAS | IQQQATVMLK | IMQDYDWHVF | SLVTTIFPGY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| REFISFVKTT | VDNSFVGWDM | QNVITLDTSF | EDAKTQVQLK | KIHSSVILLY | CSKDEAVLIL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SEARSLGLTG | YDFFWIVPSL | VSGNTELIPK | EFPSGLISVS | YDDWDYSLEA | RVRDGIGILT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TAASSMLEKF | SYIPEAKASC | YGQMERPEVP | MHTLHPFMVN | VTWDGKDLSF | TEEGYQVHPR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LVVIVLNKDR | EWEKVGKWEN | HTLSLRHAVW | PRYKSFSDCE | PDDNHLSIVT | LEEAPFVIVE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DIDPLTETCV | RNTVPCRKFV | KINNSTNEGM | NVKKCCKGFC | IDILKKLSRT | VKFTYDLYLV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TNGKHGKKVN | NVWNGMIGEV | VYQRAVMAVG | SLTINEERSE | VVDFSVPFVE | TGISVMVSRS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NGTVSPSAFL | EPFSASVWVM | MFVMLLIVSA | IAVFVFEYFS | PVGYNRNLAK | GKAPHGPSFT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IGKAIWLLWG | LVFNNSVPVQ | NPKGTTSKIM | VSVWAFFAVI | FLASYTANLA | AFMIQEEFVD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QVTGLSDKKF | QRPHDYSPPF | RFGTVPNGST | ERNIRNNYPY | MHQYMTKFNQ | KGVEDALVSL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KTGKLDAFIY | DAAVLNYKAG | RDEGCKLVTI | GSGYIFATTG | YGIALQKGSP | WKRQIDLALL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QFVGDGEMEE | LETLWLTGIC | HNEKNEVMSS | QLDIDNMAGV | FYMLAAAMAL | SLITFIWEHL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FYWKLRFCFT | GVCSDRPGLL | FSISRGIYSC | IHGVHIEEKK | KSPDFNLTGS | QSNMLKLLRS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| AKNISSMSNM | NSSRMDSPKR | AADFIQRGSL | IMDMVSDKGN | LMYSDNRSFQ | GKESIFGDNM |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| NELQTFVANR | QKDNLNNYVF | QGQHPLTLNE | SNPNTVEVAV | STESKANSRP | RQLWKKSVDS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| IRQDSLSQNP | VSQRDEATAE | NRTHSLKSPR | YLPEEMAHSD | ISETSNRATC | HREPDNSKNH |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| KTKDNFKRSV | ASKYPKDCSE | VERTYLKTKS | SSPRDKIYTI | DGEKEPGFHL | DPPQFVENVT |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| LPENVDFPDP | YQDPSENFRK | GDSTLPMNRN | PLHNEEGLSN | NDQYKLYSKH | FTLKDKGSPH |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| SETSERYRQN | STHCRSCLSN | MPTYSGHFTM | RSPFKCDACL | RMGNLYDIDE | DQMLQETGNP |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| ATGEQVYQQD | WAQNNALQLQ | KNKLRISRQH | SYDNIVDKPR | ELDLSRPSRS | ISLKDRERLL |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| EGNFYGSLFS | VPSSKLSGKK | SSLFPQGLED | SKRSKSLLPD | HTSDNPFLHS | HRDDQRLVIG |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| RCPSDPYKHS | LPSQAVNDSY | LRSSLRSTAS | YCSRDSRGHN | DVYISEHVMP | YAANKNNMYS |
| 1450 | 1460 | ||||
| TPRVLNSCSN | RRVYKKMPSI | ESDV |