"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ERCC4"[gen - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134131	NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)	ERCC4, LOC130058543 (P6S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +6 more	GUncertain significance
Select item 134144	NM_005236.3(ERCC4):c.241G>T (p.Val81Phe)	ERCC4 (V81F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +5 more	GBenign/Likely benign
Select item 240124	NM_005236.3(ERCC4):c.252C>T (p.Leu84=)	ERCC4	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 807995	NM_005236.3(ERCC4):c.473G>A (p.Arg158His)	ERCC4 (R158H)	Single nucleotide variant (missense variant)	XFE progeroid syndrome +3 more	GUncertain significance
Select item 840550	NM_005236.3(ERCC4):c.580_584+1del	ERCC4	Deletion (splice donor variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 695609	NM_005236.3(ERCC4):c.738G>A (p.Ser246=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum +4 more	GLikely benign
Select item 2646238	NM_005236.3(ERCC4):c.850T>C (p.Leu284=)	ERCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218668	NM_005236.3(ERCC4):c.974-6T>C	ERCC4	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group F +5 more	GBenign/Likely benign
Select item 810700	NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu)	ERCC4 (S334L)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1175884	NM_005236.3(ERCC4):c.1081dup (p.Met361fs)	ERCC4 (M361fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 134148	NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)	ERCC4 (P379S)	Single nucleotide variant (missense variant)	Cockayne syndrome +7 more	GConflicting classifications of pathogenicity
Select item 317811	NM_005236.3(ERCC4):c.1284G>A (p.Ala428=)	ERCC4	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3027158	NM_005236.3(ERCC4):c.1315del (p.Thr439fs)	ERCC4 (T439fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 415025	NM_005236.3(ERCC4):c.1446A>G (p.Glu482=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +4 more	GBenign/Likely benign
Select item 1675616	NM_005236.3(ERCC4):c.1449A>G (p.Arg483=)	ERCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 374688	NM_005236.3(ERCC4):c.1489A>G (p.Met497Val)	ERCC4 (M497V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134153	NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)	ERCC4 (S521R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +7 more	GConflicting classifications of pathogenicity
Select item 1635402	NM_005236.3(ERCC4):c.1632C>T (p.Phe544=)	ERCC4	Single nucleotide variant (synonymous variant)	ERCC4-related condition +4 more	GLikely benign
Select item 1337090	NM_005236.3(ERCC4):c.1853G>A (p.Arg618His)	ERCC4 (R618H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +5 more	GUncertain significance
Select item 932547	NM_005236.3(ERCC4):c.1860C>G (p.Leu620=)	ERCC4	Single nucleotide variant (synonymous variant)	Cockayne syndrome +3 more	GLikely benign
Select item 425096	NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys)	ERCC4 (R740C)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GUncertain significance
Select item 16580	NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	ERCC4 (R799W)	Single nucleotide variant (missense variant)	ERCC4-related condition +8 more	GConflicting classifications of pathogenicity
Select item 1534696	NM_005236.3(ERCC4):c.2434T>C (p.Leu812=)	ERCC4	Single nucleotide variant (synonymous variant)	Cockayne syndrome +3 more	GLikely benign
Select item 700435	NM_005236.3(ERCC4):c.2517C>T (p.Pro839=)	ERCC4	Single nucleotide variant (synonymous variant)	Cockayne syndrome +4 more	GLikely benign
Select item 1175885	NM_005236.3(ERCC4):c.2604C>T (p.His868=)	ERCC4	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 134135	NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val)	ERCC4 (I873V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +5 more	GBenign/Likely benign
Select item 697490	NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)	ERCC4 (E883K)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +6 more	GBenign/Likely benign
Select item 259684	NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +5 more	GBenign/Likely benign
Select item 259685	NM_005236.3(ERCC4):c.2724C>T (p.Val908=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +5 more	GBenign/Likely benign
Select item 642503	NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile)	ERCC4 (V909I)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GUncertain significance

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Items: 30