ERCC3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 148393	GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1	AMMECR1L, BIN1 +116 more	Copy number loss	See cases	GLikely pathogenic
Select item 146132	GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1	AMMECR1L, BIN1 +100 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 1180433	NC_000002.12:g.124348648_129410245del	LOC129934710, LOC129934711 +112 more	Deletion	See cases	Gnot provided
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	GUncertain significance
Select item 331068	NM_000122.2(ERCC3):c.*259G>A	ERCC3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 331069	NM_000122.2(ERCC3):c.*242dup	ERCC3	Duplication (3 prime UTR variant)	Xeroderma pigmentosum	GUncertain significance
Select item 892772	NM_000122.2(ERCC3):c.*220G>C	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 331070	NM_000122.2(ERCC3):c.*177A>G	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B	GBenign
Select item 892773	NM_000122.2(ERCC3):c.*138G>C	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 331071	NM_000122.2(ERCC3):c.*106T>C	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B +1 more	GLikely benign
Select item 893583	NM_000122.2(ERCC3):c.*83C>T	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 331072	NM_000122.2(ERCC3):c.*29C>T	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B +1 more	GBenign/Likely benign
Select item 2083774	NM_000122.2(ERCC3):c.2336G>A (p.Arg779His)	ERCC3 (R715H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720551	NM_000122.2(ERCC3):c.2334G>A (p.Lys778=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2081478	NM_000122.2(ERCC3):c.2325G>A (p.Pro775=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1399406	NM_000122.2(ERCC3):c.2306C>T (p.Pro769Leu)	ERCC3 (P705L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394536	NM_000122.2(ERCC3):c.2305C>A (p.Pro769Thr)	ERCC3 (P705T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005492	NM_000122.2(ERCC3):c.2304G>A (p.Ala768=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192604	NM_000122.2(ERCC3):c.2303C>G (p.Ala768Gly)	ERCC3 (A704G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134123	NM_000122.2(ERCC3):c.2303C>T (p.Ala768Val)	ERCC3 (A768V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359810	NM_000122.2(ERCC3):c.2294G>A (p.Arg765Gln)	ERCC3 (R701Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428473	NM_000122.2(ERCC3):c.2293C>T (p.Arg765Trp)	ERCC3 (R701W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648259	NM_000122.2(ERCC3):c.2292G>A (p.Ser764=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1429853	NM_000122.2(ERCC3):c.2286C>G (p.His762Gln)	ERCC3 (H698Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1022047	NM_000122.2(ERCC3):c.2285A>G (p.His762Arg)	ERCC3 (H698R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3250468	NM_000122.2(ERCC3):c.2275_2283del (p.Met759_Tyr761del)	ERCC3	Deletion (inframe_deletion)	Xeroderma pigmentosum group B	GUncertain significance
Select item 1511119	NM_000122.2(ERCC3):c.2270T>A (p.Val757Glu)	ERCC3 (V757E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416691	NM_000122.2(ERCC3):c.2263G>A (p.Asp755Asn)	ERCC3 (D691N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2824828	NM_000122.2(ERCC3):c.2262C>T (p.Asp754=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356642	NM_000122.2(ERCC3):c.2260G>A (p.Asp754Asn)	ERCC3 (D690N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879083	NM_000122.2(ERCC3):c.2259C>T (p.Ala753=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3020772	NM_000122.2(ERCC3):c.2253T>G (p.Ser751=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1692164	NM_000122.2(ERCC3):c.2248A>G (p.Met750Val)	ERCC3 (M686V +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 1189980	NM_000122.2(ERCC3):c.2248A>C (p.Met750Leu)	ERCC3 (M686L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1935905	NM_000122.2(ERCC3):c.2247T>C (p.Ser749=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965677	NM_000122.2(ERCC3):c.2227C>T (p.Arg743Cys)	ERCC3 (R743C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 710683	NM_000122.2(ERCC3):c.2226G>A (p.Arg742=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 893584	NM_000122.2(ERCC3):c.2224C>T (p.Arg742Trp)	ERCC3 (R678W +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B +1 more	GUncertain significance
Select item 695354	NM_000122.2(ERCC3):c.2218-5G>A	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum +2 more	GConflicting classifications of pathogenicity
Select item 758079	NM_000122.2(ERCC3):c.2218-6C>T	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B +2 more	GConflicting classifications of pathogenicity
Select item 16582	NM_000122.2(ERCC3):c.2218-6C>A	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B	GPathogenic
Select item 2017319	NM_000122.2(ERCC3):c.2218-8C>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649927	NM_000122.2(ERCC3):c.2218-11C>T	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2037115	NM_000122.2(ERCC3):c.2218-16T>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2059306	NM_000122.2(ERCC3):c.2218-17T>C	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970273	NM_000122.2(ERCC3):c.2218-18G>C	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277158	NM_000122.2(ERCC3):c.2218-64G>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239854	NM_000122.2(ERCC3):c.2218-91G>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1713714	NM_000122.2(ERCC3):c.2210C>G (p.Ser737Cys)	ERCC3 (S673C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395585	NM_000122.2(ERCC3):c.2208A>C (p.Arg736Ser)	ERCC3 (R736S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134122	NM_000122.2(ERCC3):c.2207G>T (p.Arg736Ile)	ERCC3 (R736I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929831	NM_000122.2(ERCC3):c.2205C>T (p.Ser735=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762376	NM_000122.2(ERCC3):c.2203T>C (p.Ser735Pro)	ERCC3 (S735P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 758923	NM_000122.2(ERCC3):c.2187G>A (p.Val729=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 134121	NM_000122.2(ERCC3):c.2182G>A (p.Val728Met)	ERCC3 (V728M +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 720761	NM_000122.2(ERCC3):c.2172C>T (p.Ala724=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011579	NM_000122.2(ERCC3):c.2163C>T (p.Asp721=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1405590	NM_000122.2(ERCC3):c.2159C>G (p.Thr720Ser)	ERCC3 (T720S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980975	NM_000122.2(ERCC3):c.2146G>A (p.Val716Ile)	ERCC3 (V652I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804402	NM_000122.2(ERCC3):c.2140C>G (p.Gln714Glu)	ERCC3 (Q650E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651328	NM_000122.2(ERCC3):c.2136C>T (p.Leu712=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1458593	NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter)	ERCC3 (Q647* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1306453	NM_000122.2(ERCC3):c.2120A>G (p.Glu707Gly)	ERCC3 (E643G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567200	NM_000122.2(ERCC3):c.2112G>T (p.Ser704=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 331073	NM_000122.2(ERCC3):c.2112G>A (p.Ser704=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum group B +2 more	GConflicting classifications of pathogenicity
Select item 134120	NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu)	ERCC3 (S704L +1 more)	Single nucleotide variant (missense variant)	ERCC3-related disorder +3 more	GBenign/Likely benign
Select item 1494664	NM_000122.2(ERCC3):c.2109T>C (p.Phe703=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 331074	NM_000122.2(ERCC3):c.2106G>A (p.Ala702=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum +2 more	GConflicting classifications of pathogenicity
Select item 331075	NM_000122.2(ERCC3):c.2105C>T (p.Ala702Val)	ERCC3 (A702V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2182394	NM_000122.2(ERCC3):c.2098G>T (p.Asp700Tyr)	ERCC3 (D700Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361081	NM_000122.2(ERCC3):c.2089G>A (p.Glu697Lys)	ERCC3 (E633K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893870	NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg)	ERCC3 (M632R +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +2 more	GUncertain significance
Select item 1436646	NM_000122.2(ERCC3):c.2086A>G (p.Met696Val)	ERCC3 (M632V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700449	NM_000122.2(ERCC3):c.2082T>C (p.Ala694=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 893871	NM_000122.2(ERCC3):c.2080G>T (p.Ala694Ser)	ERCC3 (A630S +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 331076	NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr)	ERCC3 (A694T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1929166	NM_000122.2(ERCC3):c.2079C>T (p.Leu693=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1349286	NM_000122.2(ERCC3):c.2077C>T (p.Leu693Phe)	ERCC3 (L693F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406739	NM_000122.2(ERCC3):c.2072C>T (p.Thr691Met)	ERCC3 (T627M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160636	NM_000122.2(ERCC3):c.2065-6T>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871731	NM_000122.2(ERCC3):c.2065-16G>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1194655	NM_000122.2(ERCC3):c.2065-267A>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183522	NM_000122.2(ERCC3):c.2064+334_2064+343del	ERCC3	Microsatellite (intron variant)	not provided	GBenign
Select item 1246427	NM_000122.2(ERCC3):c.2064+282A>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1595880	NM_000122.2(ERCC3):c.2064+8T>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1432642	NM_000122.2(ERCC3):c.2064+5A>G	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 1497934	NM_000122.2(ERCC3):c.2064+4C>T	ERCC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2651329	NM_000122.2(ERCC3):c.2064G>C (p.Lys688Asn)	ERCC3 (K624N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002384	NM_000122.2(ERCC3):c.2043A>C (p.Val681=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1008184	NM_000122.2(ERCC3):c.2026C>T (p.Arg676Trp)	ERCC3 (R612W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011929	NM_000122.2(ERCC3):c.2022C>G (p.Thr674=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150386	NM_000122.2(ERCC3):c.2020A>G (p.Thr674Ala)	ERCC3 (T610A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059885	NM_000122.2(ERCC3):c.2016C>T (p.Tyr672=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953926	NM_000122.2(ERCC3):c.1998C>T (p.Asp666=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 134119	NM_000122.2(ERCC3):c.1996G>A (p.Asp666Asn)	ERCC3 (D666N +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 2, photosensitive +2 more	GUncertain significance

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