"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ERCC4"[gene] - ClinVar

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Items: 22

	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 134132	NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe)	ERCC4, LOC130058543 (L27F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +4 more	GUncertain significance
Select item 134143	NM_005236.3(ERCC4):c.217A>G (p.Ile73Val)	ERCC4 (I73V)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GUncertain significance
Select item 408562	NM_005236.3(ERCC4):c.241G>A (p.Val81Ile)	ERCC4 (V81I)	Single nucleotide variant (missense variant)	XFE progeroid syndrome +3 more	GConflicting classifications of pathogenicity
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 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 864133	NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala)	ERCC4 (S312A)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 more	GUncertain significance
Select item 317810	NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg)	ERCC4 (Q406R)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +4 more	GUncertain significance
Select item 885830	NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln)	ERCC4 (E448Q)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 more	GLikely benign
Select item 885831	NM_005236.3(ERCC4):c.1488A>C (p.Gln496His)	ERCC4 (Q496H)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	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 +6 more	GConflicting classifications of pathogenicity
Select item 1356203	NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu)	ERCC4 (P526L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +3 more	GUncertain significance
Select item 317815	NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp)	ERCC4 (G559D)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 more	GUncertain significance
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 55829	NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)	ERCC4 (R589W)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, type F/Cockayne syndrome +6 more	GPathogenic/Likely pathogenic
Select item 1089716	NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=)	ERCC4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group Q +3 more	GLikely benign
Select item 1448926	NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln)	ERCC4 (R670Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +4 more	GUncertain significance
Select item 1580206	NM_005236.3(ERCC4):c.2124C>T (p.Pro708=)	ERCC4	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group F +3 more	GLikely benign
Select item 647874	NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr)	ERCC4 (I729T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +5 more	GUncertain significance
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 645946	NM_005236.3(ERCC4):c.2603A>C (p.His868Pro)	ERCC4 (H868P)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +4 more	GUncertain significance
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

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Items: 22