"Revvity Omics, Revvity"[submitter] AND "ERCC4"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1324343	NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs)	ERCC4 (A400fs)	Insertion (frameshift variant)	Xeroderma pigmentosum, group F +3 more	GPathogenic/Likely pathogenic
Select item 2441286	NM_005236.3(ERCC4):c.1298T>G (p.Leu433Trp)	ERCC4 (L433W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441285	NM_005236.3(ERCC4):c.1459A>G (p.Lys487Glu)	ERCC4 (K487E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441284	NM_005236.3(ERCC4):c.1477A>C (p.Thr493Pro)	ERCC4 (T493P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037640	NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys)	ERCC4 (E517K)	Single nucleotide variant (missense variant)	not provided +3 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 2074753	NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)	ERCC4 (V588I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2441287	NM_005236.3(ERCC4):c.2017G>A (p.Gly673Ser)	ERCC4 (G673S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 55824	NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)	ERCC4 (R689S)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely pathogenic
Select item 858128	NM_005236.3(ERCC4):c.2102G>A (p.Arg701His)	ERCC4 (R701H)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 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