"Baylor Genetics"[submitter] AND "ERCC4"[gene] - ClinVar

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Items: 23

	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)	not provided +7 more	GUncertain significance
Select item 998306	NM_005236.3(ERCC4):c.17C>T (p.Pro6Leu)	ERCC4, LOC130058543 (P6L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q	GUncertain significance
Select item 1327065	NM_005236.3(ERCC4):c.127C>T (p.Arg43Trp)	ERCC4, LOC130058543 (R43W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q	GUncertain significance
Select item 997597	NM_005236.3(ERCC4):c.207+5G>C	ERCC4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group Q	GUncertain significance
Select item 647625	NM_005236.3(ERCC4):c.257G>A (p.Arg86His)	ERCC4 (R86H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +3 more	GUncertain significance
Select item 695963	NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)	ERCC4 (A168V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +3 more	GConflicting classifications of pathogenicity
Select item 240126	NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly)	ERCC4 (A168G)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GConflicting classifications of pathogenicity
Select item 652281	NM_005236.3(ERCC4):c.798C>G (p.Ile266Met)	ERCC4 (I266M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 963460	NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr)	ERCC4 (S331T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 474200	NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe)	ERCC4 (Y344F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GConflicting classifications of pathogenicity
Select item 2675071	NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)	ERCC4 (A428V)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 134152	NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)	ERCC4 (P472L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GConflicting classifications of pathogenicity
Select item 134153	NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)	ERCC4 (S521R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +6 more	GConflicting classifications of pathogenicity
Select item 855799	NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)	ERCC4 (E527D)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 more	GUncertain significance
Select item 134151	NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val)	ERCC4 (I553V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +2 more	GUncertain significance
Select item 134158	NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)	ERCC4 (R576T)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 317816	NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser)	ERCC4 (R576S)	Single nucleotide variant (missense variant)	XFE progeroid syndrome +3 more	GUncertain significance
Select item 998305	NM_005236.3(ERCC4):c.1765C>G (p.Arg589Gly)	ERCC4 (R589G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q	GUncertain significance
Select item 541252	NM_005236.3(ERCC4):c.1812-5T>C	ERCC4	Single nucleotide variant (intron variant)	Cockayne syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1077179	NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu)	ERCC4 (P696L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +3 more	GUncertain significance
Select item 134142	NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)	ERCC4 (I706T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +7 more	GConflicting classifications of pathogenicity
Select item 998307	NM_005236.3(ERCC4):c.2249G>A (p.Arg750His)	ERCC4 (R750H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q	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

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Items: 23