"Leiden Open Variation Database"[submitter] AND "ERCC4"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 625138	NM_005236.3(ERCC4):c.388+1164_792+795del	ERCC4	Deletion (splice acceptor variant +1 more)	XFE progeroid syndrome +2 more	GPathogenic/Likely pathogenic
Select item 929553	NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys)	ERCC4 (R150C)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 929554	NM_005236.3(ERCC4):c.516_517del (p.Thr173fs)	ERCC4 (T173fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 929555	NM_005236.3(ERCC4):c.540_541del (p.Arg180fs)	ERCC4 (R180fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 929556	NM_005236.3(ERCC4):c.584+1G>A	ERCC4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 55826	NM_005236.3(ERCC4):c.689T>C (p.Leu230Pro)	ERCC4 (L230P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q	GPathogenic
Select item 929557	NM_005236.3(ERCC4):c.800G>A (p.Arg267His)	ERCC4 (R267H)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 55823	NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs)	ERCC4 (T495fs)	Deletion (frameshift variant)	Precursor B-cell acute lymphoblastic leukemia	GPathogenic
Select item 929558	NM_005236.3(ERCC4):c.1861A>G (p.Thr621Ala)	ERCC4 (T621A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 929559	NM_005236.3(ERCC4):c.2291del (p.Ser764fs)	ERCC4 (S764fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 929560	NM_005236.3(ERCC4):c.2357C>T (p.Ser786Phe)	ERCC4 (S786F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 55825	NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs)	ERCC4 (I800fs)	Duplication (frameshift variant)	Xeroderma pigmentosum, group F	GLikely pathogenic