2068[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	GUncertain significance
Select item 145941	GRCh38/hg38 19q13.32(chr19:45334306-45387389)x3	ERCC2, KLC3 +4 more	Copy number gain	See cases	GLikely benign
Select item 2319181	NM_177417.3(KLC3):c.1147T>G (p.Ser383Ala)	ERCC2, KLC3 (S383A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616121	NM_177417.3(KLC3):c.1164G>C (p.Gln388His)	ERCC2, KLC3 (Q388H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411692	NM_177417.3(KLC3):c.1166A>G (p.Asn389Ser)	ERCC2, KLC3 (N389S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454665	NM_177417.3(KLC3):c.1264G>A (p.Ala422Thr)	ERCC2, KLC3 (A422T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2335078	NM_177417.3(KLC3):c.1269A>C (p.Glu423Asp)	ERCC2, KLC3 (E423D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115222	NM_177417.3(KLC3):c.1279C>T (p.Arg427Cys)	ERCC2, KLC3 (R427C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115223	NM_177417.3(KLC3):c.1280G>A (p.Arg427His)	ERCC2, KLC3 (R427H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391029	NM_177417.3(KLC3):c.1298C>T (p.Ser433Phe)	ERCC2, KLC3 (S433F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219577	NM_177417.3(KLC3):c.1307G>A (p.Arg436His)	ERCC2, KLC3 (R436H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115224	NM_177417.3(KLC3):c.1352G>C (p.Arg451Pro)	ERCC2, KLC3 (R451P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220443	NM_177417.3(KLC3):c.1352G>A (p.Arg451Gln)	ERCC2, KLC3 (R451Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115225	NM_177417.3(KLC3):c.1364C>T (p.Ala455Val)	ERCC2, KLC3 (A455V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115226	NM_177417.3(KLC3):c.1370G>A (p.Gly457Glu)	ERCC2, KLC3 (G457E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454947	NM_177417.3(KLC3):c.1394T>C (p.Met465Thr)	ERCC2, KLC3 (M465T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115227	NM_177417.3(KLC3):c.1414G>A (p.Val472Met)	ERCC2, KLC3 (V472M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524349	NM_177417.3(KLC3):c.1459C>A (p.Leu487Met)	ERCC2, KLC3 (L487M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115228	NM_177417.3(KLC3):c.1475G>A (p.Arg492Gln)	ERCC2, KLC3 (R492Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650099	NM_177417.3(KLC3):c.1485C>T (p.Ser495=)	ERCC2, KLC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1319785	NM_177417.3(KLC3):c.1486G>A (p.Ala496Thr)	ERCC2, KLC3 (A496T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3115229	NM_177417.3(KLC3):c.1510C>T (p.His504Tyr)	ERCC2, KLC3 (H504Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 892627	NM_177417.3(KLC3):c.*48G>A	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 892628	NM_177417.3(KLC3):c.*56C>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GLikely benign
Select item 329495	NM_177417.3(KLC3):c.66_67insT	ERCC2, KLC3	Insertion (3 prime UTR variant)	Xeroderma pigmentosum	GUncertain significance
Select item 892629	NM_177417.3(KLC3):c.*91C>A	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 329496	NM_177417.3(KLC3):c.*100C>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D +3 more	GLikely benign
Select item 329497	NM_177417.3(KLC3):c.*101C>G	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GBenign
Select item 893430	NM_177417.3(KLC3):c.*105G>A	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893431	NM_177417.3(KLC3):c.*110C>A	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 329498	NM_177417.3(KLC3):c.*120A>G	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893432	NM_177417.3(KLC3):c.*135C>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 1209384	NM_177417.3(KLC3):c.*153del	ERCC2, KLC3	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 329499	NM_177417.3(KLC3):c.*153G>C	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893433	NM_000400.4(ERCC2):c.*78C>A	ERCC2	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893434	NM_000400.4(ERCC2):c.*70C>T	ERCC2	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893737	NM_000400.4(ERCC2):c.*68G>A	ERCC2	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 329500	NM_000400.4(ERCC2):c.*31G>A	ERCC2	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 1493811	NM_000400.4(ERCC2):c.2282G>C (p.Ter761Ser)	ERCC2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 893738	NM_000400.4(ERCC2):c.2278C>T (p.Leu760Phe)	ERCC2 (L760F)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 1788877	NM_000400.4(ERCC2):c.2277G>T (p.Gln759His)	ERCC2 (Q759H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788834	NM_000400.4(ERCC2):c.2274G>A (p.Gln758=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2566691	NM_000400.4(ERCC2):c.2270C>T (p.Ala757Val)	ERCC2 (A757V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624812	NM_000400.4(ERCC2):c.2269G>A (p.Ala757Thr)	ERCC2 (A757T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2452375	NM_000400.4(ERCC2):c.2269G>C (p.Ala757Pro)	ERCC2 (A757P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788727	NM_000400.4(ERCC2):c.2268T>G (p.Ile756Met)	ERCC2 (I756M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788678	NM_000400.4(ERCC2):c.2264A>G (p.Gln755Arg)	ERCC2 (Q755R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 134106	NM_000400.4(ERCC2):c.2263C>T (p.Gln755Ter)	ERCC2 (Q755*)	Single nucleotide variant (nonsense)	not specified	Gnot provided
Select item 1788656	NM_000400.4(ERCC2):c.2262G>A (p.Glu754=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 329501	NM_000400.4(ERCC2):c.2260G>C (p.Glu754Gln)	ERCC2 (E754Q)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +1 more	GUncertain significance
Select item 3231688	NM_000400.4(ERCC2):c.2258T>C (p.Ile753Thr)	ERCC2 (I753T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1408799	NM_000400.4(ERCC2):c.2257A>T (p.Ile753Leu)	ERCC2 (I753L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2447123	NM_000400.4(ERCC2):c.2256G>A (p.Arg752=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2452374	NM_000400.4(ERCC2):c.2253G>A (p.Lys751=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1396699	NM_000400.4(ERCC2):c.2251A>T (p.Lys751Ter)	ERCC2 (K751*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 134105	NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)	ERCC2 (K751Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 2452344	NM_000400.4(ERCC2):c.2250G>A (p.Leu750=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1788425	NM_000400.4(ERCC2):c.2250G>C (p.Leu750=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2586771	NM_000400.4(ERCC2):c.2249T>G (p.Leu750Arg)	ERCC2 (L750R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788383	NM_000400.4(ERCC2):c.2249T>A (p.Leu750Gln)	ERCC2 (L750Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 893739	NM_000400.4(ERCC2):c.2247G>A (p.Thr749=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2179277	NM_000400.4(ERCC2):c.2246C>T (p.Thr749Met)	ERCC2 (T749M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3231687	NM_000400.4(ERCC2):c.2244G>A (p.Glu748=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1444716	NM_000400.4(ERCC2):c.2241G>C (p.Glu747Asp)	ERCC2 (E747D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2452365	NM_000400.4(ERCC2):c.2240A>T (p.Glu747Val)	ERCC2 (E747V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231686	NM_000400.4(ERCC2):c.2238A>G (p.Ser746=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1788210	NM_000400.4(ERCC2):c.2237C>T (p.Ser746Leu)	ERCC2 (S746L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3231685	NM_000400.4(ERCC2):c.2236T>G (p.Ser746Ala)	ERCC2 (S746A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788198	NM_000400.4(ERCC2):c.2236T>A (p.Ser746Thr)	ERCC2 (S746T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788157	NM_000400.4(ERCC2):c.2233G>C (p.Glu745Gln)	ERCC2 (E745Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1447509	NM_000400.4(ERCC2):c.2227_2233del (p.Gln743fs)	ERCC2 (Q743fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3231684	NM_000400.4(ERCC2):c.2232A>T (p.Leu744=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1788131	NM_000400.4(ERCC2):c.2232A>G (p.Leu744=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 134107	NM_000400.4(ERCC2):c.2231T>C (p.Leu744Pro)	ERCC2 (L744P)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 1788103	NM_000400.4(ERCC2):c.2230C>T (p.Leu744=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231683	NM_000400.4(ERCC2):c.2229G>C (p.Gln743His)	ERCC2 (Q743H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602363	NM_000400.4(ERCC2):c.2226G>A (p.Glu742=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1787977	NM_000400.4(ERCC2):c.2224G>C (p.Glu742Gln)	ERCC2 (E742Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2883911	NM_000400.4(ERCC2):c.2223G>A (p.Leu741=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560821	NM_000400.4(ERCC2):c.2221C>T (p.Leu741=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3231682	NM_000400.4(ERCC2):c.2218A>C (p.Ser740Arg)	ERCC2 (S740R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1787862	NM_000400.4(ERCC2):c.2218A>G (p.Ser740Gly)	ERCC2 (S740G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566710	NM_000400.4(ERCC2):c.2217C>T (p.Leu739=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1787850	NM_000400.4(ERCC2):c.2217C>G (p.Leu739=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1787824	NM_000400.4(ERCC2):c.2215C>G (p.Leu739Val)	ERCC2 (L739V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2172502	NM_000400.4(ERCC2):c.2214G>T (p.Leu738=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1787813	NM_000400.4(ERCC2):c.2214G>A (p.Leu738=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2884364	NM_000400.4(ERCC2):c.2212C>T (p.Leu738=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2561086	NM_000400.4(ERCC2):c.2211C>G (p.Ser737=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3231681	NM_000400.4(ERCC2):c.2209T>A (p.Ser737Thr)	ERCC2 (S737T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2447134	NM_000400.4(ERCC2):c.2209T>G (p.Ser737Ala)	ERCC2 (S737A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1354821	NM_000400.4(ERCC2):c.2209T>C (p.Ser737Pro)	ERCC2 (S737P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693544	NM_000400.4(ERCC2):c.2208G>C (p.Leu736=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1787691	NM_000400.4(ERCC2):c.2206C>T (p.Leu736=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1787674	NM_000400.4(ERCC2):c.2204G>A (p.Gly735Asp)	ERCC2 (G735D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2889199	NM_000400.4(ERCC2):c.2202G>A (p.Leu734=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1787532	NM_000400.4(ERCC2):c.2199G>A (p.Gln733=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3231680	NM_000400.4(ERCC2):c.2196T>G (p.Asp732Glu)	ERCC2 (D732E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1319434	NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly)	ERCC2 (D732G)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +1 more	GConflicting classifications of pathogenicity

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