ERCC2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not provided +1 more	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 3276282	NM_000400.4(ERCC2):c.2267T>G (p.Ile756Ser)	ERCC2 (I756S)	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 3276239	NM_000400.4(ERCC2):c.2263C>G (p.Gln755Glu)	ERCC2 (Q755E)	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)	not provided +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)	Trichothiodystrophy 1, photosensitive +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)	Xeroderma pigmentosum, group D +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)	Xeroderma pigmentosum +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)	not provided +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)	not provided +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)	not provided +1 more	GLikely benign
Select item 2884364	NM_000400.4(ERCC2):c.2212C>T (p.Leu738=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	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)	not provided +1 more	GLikely benign
Select item 3276219	NM_000400.4(ERCC2):c.2205C>T (p.Gly735=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	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)	not provided +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)	Cerebrooculofacioskeletal syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1787468	NM_000400.4(ERCC2):c.2194G>C (p.Asp732His)	ERCC2 (D732H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1705268	NM_000400.4(ERCC2):c.2191-1G>A	ERCC2	Single nucleotide variant (splice acceptor variant)	Trichothiodystrophy 1, photosensitive	GPathogenic
Select item 2675054	NM_000400.4(ERCC2):c.2191-2A>G	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 329502	NM_000400.4(ERCC2):c.2191-3C>T	ERCC2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 785627	NM_000400.4(ERCC2):c.2191-4G>A	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group D +3 more	GConflicting classifications of pathogenicity
Select item 3015240	NM_000400.4(ERCC2):c.2191-5T>G	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2002761	NM_000400.4(ERCC2):c.2191-6C>T	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702607	NM_000400.4(ERCC2):c.2191-11G>C	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1319435	NM_000400.4(ERCC2):c.2191-11G>A	ERCC2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2798576	NM_000400.4(ERCC2):c.2191-13_2191-12del	ERCC2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2975462	NM_000400.4(ERCC2):c.2191-13C>G	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964418	NM_000400.4(ERCC2):c.2191-13C>A	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901239	NM_000400.4(ERCC2):c.2191-19_2191-14del	ERCC2	Deletion (intron variant)	not provided	GLikely benign
Select item 1952095	NM_000400.4(ERCC2):c.2191-15C>G	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946715	NM_000400.4(ERCC2):c.2191-20_2191-15del	ERCC2	Deletion (intron variant)	not provided	GLikely benign
Select item 2974154	NM_000400.4(ERCC2):c.2191-16C>T	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848339	NM_000400.4(ERCC2):c.2191-17T>G	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826914	NM_000400.4(ERCC2):c.2191-20C>T	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251370	NM_000400.4(ERCC2):c.2191-83dup	ERCC2	Duplication (intron variant)	not provided	GBenign
Select item 1182968	NM_000400.4(ERCC2):c.2191-81G>C	ERCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203184	NM_000400.4(ERCC2):c.2191-82G>C	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179824	NM_000400.4(ERCC2):c.2191-84del	ERCC2	Deletion (intron variant)	not provided	GLikely benign
Select item 2650100	NM_000400.4(ERCC2):c.2191-197G>T	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2650101	NM_000400.4(ERCC2):c.2191-230C>T	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230280	NM_000400.4(ERCC2):c.2190+205C>A	ERCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296760	NM_000400.4(ERCC2):c.2190+149T>C	ERCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3257296	NM_000400.4(ERCC2):c.2190+138A>G	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3341969	NM_000400.4(ERCC2):c.2190+129C>T	ERCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2650102	NM_000400.4(ERCC2):c.2190+98G>A	ERCC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2769578	NM_000400.4(ERCC2):c.2190+13_2190+23del	ERCC2	Deletion (intron variant)	not provided	GLikely benign
Select item 1601731	NM_000400.4(ERCC2):c.2190+20C>T	ERCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2753542	NM_000400.4(ERCC2):c.2190+17_2190+18dup	ERCC2	Duplication (intron variant)	not provided	GLikely benign

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