"GeneDx"[submitter] AND "ERCC4"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1200406	NC_000016.10:g.13919990C>G	ERCC4	Single nucleotide variant	not provided	GLikely benign
Select item 1253478	NC_000016.10:g.13920136T>A	ERCC4, LOC130058543	Single nucleotide variant	not provided	GBenign
Select item 1316477	NM_005236.3(ERCC4):c.2T>C (p.Met1Thr)	ERCC4, LOC130058543 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 134131	NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)	ERCC4, LOC130058543 (P6S)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 240125	NM_005236.3(ERCC4):c.33C>T (p.Ala11=)	ERCC4, LOC130058543	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +4 more	GBenign/Likely benign
Select item 884829	NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe)	ERCC4, LOC130058543 (L49F)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +5 more	GUncertain significance
Select item 259683	NM_005236.3(ERCC4):c.207+11G>A	ERCC4	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 1177770	NM_005236.3(ERCC4):c.207+49G>A	ERCC4, LOC130058544	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320951	NM_005236.3(ERCC4):c.207+79G>C	ERCC4, LOC130058544	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238968	NM_005236.3(ERCC4):c.208-311C>G	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 240124	NM_005236.3(ERCC4):c.252C>T (p.Leu84=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +4 more	GBenign/Likely benign
Select item 474205	NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr)	ERCC4 (A109T)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +5 more	GConflicting classifications of pathogenicity
Select item 1216670	NM_005236.3(ERCC4):c.389-206C>T	ERCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225225	NM_005236.3(ERCC4):c.389-200G>A	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273436	NM_005236.3(ERCC4):c.389-36C>G	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 435075	NM_005236.3(ERCC4):c.396G>T (p.Leu132Phe)	ERCC4 (L132F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 474207	NM_005236.3(ERCC4):c.532G>T (p.Val178Leu)	ERCC4 (V178L)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GUncertain significance
Select item 646508	NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr)	ERCC4 (A235T)	Single nucleotide variant (missense variant)	Cockayne syndrome +6 more	GUncertain significance
Select item 55827	NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg)	ERCC4 (C236R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1288461	NM_005236.3(ERCC4):c.793-160C>T	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223749	NM_005236.3(ERCC4):c.793-69G>T	ERCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272320	NM_005236.3(ERCC4):c.974-303T>G	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229090	NM_005236.3(ERCC4):c.974-122C>A	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194973	NM_005236.3(ERCC4):c.974-72A>G	ERCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259686	NM_005236.3(ERCC4):c.974-7G>A	ERCC4	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1016989	NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys)	ERCC4 (E368K)	Single nucleotide variant (missense variant)	Cockayne syndrome +5 more	GUncertain significance
Select item 1265968	NM_005236.3(ERCC4):c.1102+219G>A	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229165	NM_005236.3(ERCC4):c.1102+237C>G	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277680	NM_005236.3(ERCC4):c.1102+307G>A	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277732	NM_005236.3(ERCC4):c.1103-317C>T	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237414	NM_005236.3(ERCC4):c.1103-311C>G	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229975	NM_005236.3(ERCC4):c.1103-90T>C	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194281	NM_005236.3(ERCC4):c.1213+214G>A	ERCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178890	NM_005236.3(ERCC4):c.1213+220G>A	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 134155	NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln)	ERCC4 (R415Q)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GBenign/Likely benign
Select item 1315619	NM_005236.3(ERCC4):c.1493T>C (p.Val498Ala)	ERCC4 (V498A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1806583	NM_005236.3(ERCC4):c.1554A>G (p.Ile518Met)	ERCC4 (I518M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320478	NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp)	ERCC4 (C525W)	Single nucleotide variant (missense variant)	Cockayne syndrome +3 more	GUncertain significance
Select item 840996	NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu)	ERCC4 (S540L)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +4 more	GUncertain significance
Select item 1274439	NM_005236.3(ERCC4):c.1811+234G>A	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259052	NM_005236.3(ERCC4):c.1812-103G>A	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723058	NM_005236.3(ERCC4):c.1838C>G (p.Ser613Ter)	ERCC4 (S613*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1270271	NM_005236.3(ERCC4):c.1904+156A>C	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219637	NM_005236.3(ERCC4):c.1904+190G>A	ERCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224724	NM_005236.3(ERCC4):c.1905-241T>C	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276400	NM_005236.3(ERCC4):c.1905-215_1905-213del	ERCC4	Microsatellite (intron variant)	not provided	GBenign
Select item 1201257	NM_005236.3(ERCC4):c.1905-140A>T	ERCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255392	NM_005236.3(ERCC4):c.1905-35T>C	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q +3 more	GBenign
Select item 1229533	NM_005236.3(ERCC4):c.1905-28G>A	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q +3 more	GBenign
Select item 317818	NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser)	ERCC4 (G648S)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 more	GUncertain significance
Select item 541253	NM_005236.3(ERCC4):c.1983A>G (p.Ala661=)	ERCC4	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 134134	NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro)	ERCC4 (S662P)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 1294062	NM_005236.3(ERCC4):c.2017+223G>A	ERCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 664022	NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)	ERCC4 (C723*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group Q +3 more	GPathogenic/Likely pathogenic
Select item 1318493	NM_005236.3(ERCC4):c.2323T>G (p.Leu775Val)	ERCC4 (L775V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16580	NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	ERCC4 (R799W)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 3340578	NM_005236.3(ERCC4):c.2406G>A (p.Trp802Ter)	ERCC4 (W802*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 129007	NM_005236.3(ERCC4):c.2505T>C (p.Ser835=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +5 more	GBenign
Select item 129008	NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)	ERCC4 (E875G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 259684	NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)	ERCC4	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 579347	NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp)	ERCC4 (N893D)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +6 more	GUncertain significance
Select item 259685	NM_005236.3(ERCC4):c.2724C>T (p.Val908=)	ERCC4	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 3364396	NM_005236.3(ERCC4):c.2743A>G (p.Lys915Glu)	ERCC4 (K915E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259682	NM_005236.3(ERCC4):c.*11C>T	ERCC4	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign

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Items: 64