ClinVar for Gene (Select 2067) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342960	NM_001983.4(ERCC1):c.109A>T (p.Lys37Ter)	ERCC1 (K37*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3342052	NM_001983.4(ERCC1):c.192C>T (p.Ala64=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3308792	NM_012099.3(POLR1G):c.644A>C (p.Lys215Thr)	ERCC1, POLR1G (K215T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308791	NM_012099.3(POLR1G):c.1528G>A (p.Val510Met)	ERCC1, POLR1G (V512M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216494	NM_012099.3(POLR1G):c.887C>T (p.Thr296Met)	ERCC1, POLR1G (T296M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216492	NM_012099.3(POLR1G):c.752A>G (p.Lys251Arg)	ERCC1, POLR1G (K253R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216491	NM_012099.3(POLR1G):c.685C>T (p.Pro229Ser)	ERCC1, POLR1G (P231S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216490	NM_012099.3(POLR1G):c.677C>G (p.Ala226Gly)	ERCC1, POLR1G (A228G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216488	NM_012099.3(POLR1G):c.625G>A (p.Asp209Asn)	ERCC1, POLR1G (D209N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216487	NM_012099.3(POLR1G):c.568G>T (p.Ala190Ser)	ERCC1, POLR1G (A192S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216486	NM_012099.3(POLR1G):c.536T>C (p.Met179Thr)	ERCC1, POLR1G (M179T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216485	NM_012099.3(POLR1G):c.449G>A (p.Cys150Tyr)	ERCC1, POLR1G (C150Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216482	NM_012099.3(POLR1G):c.305G>A (p.Gly102Glu)	ERCC1, POLR1G (G104E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216481	NM_012099.3(POLR1G):c.256T>C (p.Cys86Arg)	ERCC1, POLR1G (C88R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216480	NM_012099.3(POLR1G):c.236G>A (p.Arg79His)	ERCC1, POLR1G (R81H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216479	NM_012099.3(POLR1G):c.1493G>A (p.Arg498Gln)	ERCC1, POLR1G (R498Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216478	NM_012099.3(POLR1G):c.1420G>C (p.Glu474Gln)	ERCC1, POLR1G (E474Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216477	NM_012099.3(POLR1G):c.1393A>C (p.Lys465Gln)	ERCC1, POLR1G (K465Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216476	NM_012099.3(POLR1G):c.1324G>A (p.Glu442Lys)	ERCC1, POLR1G (E442K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216475	NM_012099.3(POLR1G):c.1322T>C (p.Leu441Pro)	ERCC1, POLR1G (L441P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216473	NM_012099.3(POLR1G):c.1195C>A (p.Pro399Thr)	ERCC1, POLR1G (P399T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216472	NM_012099.3(POLR1G):c.1124A>G (p.Gln375Arg)	ERCC1, POLR1G (Q377R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216471	NM_012099.3(POLR1G):c.1082G>C (p.Gly361Ala)	ERCC1, POLR1G (G363A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216470	NM_012099.3(POLR1G):c.1019T>A (p.Met340Lys)	ERCC1, POLR1G (M340K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053329	NM_001983.4(ERCC1):c.333C>T (p.Pro111=)	ERCC1	Single nucleotide variant (synonymous variant)	ERCC1-related disorder	GLikely benign
Select item 3053135	NM_001983.4(ERCC1):c.844-9C>T	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	ERCC1-related disorder	GLikely benign
Select item 3043696	NM_001983.4(ERCC1):c.*9G>C	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant)	ERCC1-related disorder	GLikely benign
Select item 3036757	NM_001983.4(ERCC1):c.864C>T (p.Val288=)	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	ERCC1-related disorder	GLikely benign
Select item 3026481	NM_001983.4(ERCC1):c.426C>T (p.Ser142=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021775	NM_001983.4(ERCC1):c.462T>C (p.His154=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2964053	NM_001983.4(ERCC1):c.426-10C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842638	NM_001983.4(ERCC1):c.603-26G>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794730	NM_001983.4(ERCC1):c.426-6dup	ERCC1	Duplication (intron variant)	not provided	GBenign
Select item 2717401	NM_001983.4(ERCC1):c.372C>T (p.Gly124=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650112	NM_001983.4(ERCC1):c.795C>T (p.Ala265=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650111	NM_001983.4(ERCC1):c.843+105C>G	ERCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650110	NM_001983.4(ERCC1):c.870C>T (p.His290=)	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2610854	NM_012099.3(POLR1G):c.1497C>G (p.Asp499Glu)	ERCC1, POLR1G (D499E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2570147	NM_012099.3(POLR1G):c.275C>T (p.Ala92Val)	ERCC1, POLR1G (A94V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568859	NM_012099.3(POLR1G):c.883G>C (p.Gly295Arg)	ERCC1, POLR1G (G295R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547301	NM_001983.4(ERCC1):c.758T>G (p.Leu253Arg)	ERCC1 (L253R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533455	NM_001983.4(ERCC1):c.31C>G (p.Pro11Ala)	ERCC1 (P11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518031	NM_012099.3(POLR1G):c.409C>T (p.Pro137Ser)	ERCC1, POLR1G (P137S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514460	NM_012099.3(POLR1G):c.287C>T (p.Ala96Val)	ERCC1, POLR1G (A96V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466989	NM_012099.3(POLR1G):c.230G>A (p.Arg77Gln)	ERCC1, POLR1G (R77Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465983	NM_012099.3(POLR1G):c.992A>G (p.Lys331Arg)	ERCC1, POLR1G (K331R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463111	NM_012099.3(POLR1G):c.476C>T (p.Thr159Ile)	ERCC1, POLR1G (T159I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455342	NM_001983.4(ERCC1):c.266A>G (p.Asn89Ser)	ERCC1 (N89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442006	NM_001983.4(ERCC1):c.467G>A (p.Arg156Gln)	ERCC1 (R156Q)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 4	GUncertain significance
Select item 2401929	NM_001983.4(ERCC1):c.442C>G (p.Leu148Val)	ERCC1 (L148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323143	NM_001983.4(ERCC1):c.149A>T (p.Asp50Val)	ERCC1 (D50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223233	NM_001983.4(ERCC1):c.223A>T (p.Thr75Ser)	ERCC1 (T75S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2193121	NM_001983.4(ERCC1):c.155C>T (p.Ser52Leu)	ERCC1 (S52L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185225	NM_001983.4(ERCC1):c.576C>T (p.Ala192=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180112	NM_001983.4(ERCC1):c.619C>T (p.Arg207Trp)	ERCC1 (R207W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173577	NM_001983.4(ERCC1):c.345C>T (p.Phe115=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131714	NM_001983.4(ERCC1):c.27G>T (p.Gly9=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069389	NM_001983.4(ERCC1):c.843+121C>T	ERCC1 (R298C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2045417	NM_001983.4(ERCC1):c.204T>C (p.Pro68=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2025049	NM_001983.4(ERCC1):c.502G>T (p.Val168Phe)	ERCC1 (V168F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018170	NM_001983.4(ERCC1):c.502G>A (p.Val168Ile)	ERCC1 (V168I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994452	NM_001983.4(ERCC1):c.301A>G (p.Ile101Val)	ERCC1 (I101V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992132	NM_001983.4(ERCC1):c.577G>A (p.Asp193Asn)	ERCC1 (D193N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990232	NM_001983.4(ERCC1):c.205C>T (p.Leu69=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989888	NM_001983.4(ERCC1):c.329A>G (p.Asn110Ser)	ERCC1 (N110S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987543	NM_001983.4(ERCC1):c.775-16C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1982026	NM_001983.4(ERCC1):c.426-6del	ERCC1	Deletion (intron variant)	not provided	GBenign
Select item 1958879	NM_001983.4(ERCC1):c.15G>A (p.Lys5=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958516	NM_001983.4(ERCC1):c.350G>A (p.Arg117His)	ERCC1 (R117H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949158	NM_001983.4(ERCC1):c.775-14C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930894	NM_001983.4(ERCC1):c.306T>C (p.Ile102=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925509	NM_001983.4(ERCC1):c.775-20C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925023	NM_001983.4(ERCC1):c.124T>C (p.Ser42Pro)	ERCC1 (S42P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923077	NM_001983.4(ERCC1):c.322-13C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922483	NM_001983.4(ERCC1):c.798A>G (p.Ala266=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920337	NM_001983.4(ERCC1):c.114C>T (p.Pro38=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916818	NM_001983.4(ERCC1):c.523G>T (p.Val175Leu)	ERCC1 (V175L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914616	NM_001983.4(ERCC1):c.723C>T (p.Thr241=)	ERCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1911118	NM_001983.4(ERCC1):c.426-19C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904969	NM_001983.4(ERCC1):c.426-9C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904190	NM_001983.4(ERCC1):c.775-15G>A	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902114	NM_001983.4(ERCC1):c.321+14C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897124	NM_001983.4(ERCC1):c.106-14C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1804560	NM_001983.4(ERCC1):c.426-168C>G	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683582	NM_001983.4(ERCC1):c.231del (p.Thr78fs)	ERCC1 (T78fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 4	GLikely pathogenic
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 1501659	NM_001983.4(ERCC1):c.526-1G>A	ERCC1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1343022	NM_001983.4(ERCC1):c.844-170TAA[5]	ERCC1, POLR1G	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1342066	NM_001983.4(ERCC1):c.844-179A>T	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1322828	NM_001983.4(ERCC1):c.121C>T (p.Arg41Ter)	ERCC1 (R41*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 4 +1 more	GPathogenic
Select item 1319212	NM_001983.4(ERCC1):c.-8+1G>C	ERCC1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1319211	NM_001983.4(ERCC1):c.181G>A (p.Ala61Thr)	ERCC1 (A61T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319210	NM_001983.4(ERCC1):c.253G>A (p.Gly85Arg)	ERCC1 (G85R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311774	NM_001983.4(ERCC1):c.793G>A (p.Ala265Thr)	ERCC1 (A241T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311345	NM_001983.4(ERCC1):c.482G>A (p.Gly161Glu)	ERCC1 (G161E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310442	NM_001983.4(ERCC1):c.843+52A>G	ERCC1 (N275D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1294452	NM_001983.4(ERCC1):c.844-172_844-171insATAAT	ERCC1, POLR1G	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1294443	NM_001983.4(ERCC1):c.844-170TAA[4]	ERCC1, POLR1G	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1291714	NM_001983.4(ERCC1):c.844-168_844-167insAAAAAAAA	POLR1G, ERCC1	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1290045	NM_001983.4(ERCC1):c.-105C>T	ERCC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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