"Ambry Genetics"[submitter] AND "ERCC5"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134159	NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu)	BIVM-ERCC5, ERCC5 (P19L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2380373	NM_000123.4(ERCC5):c.211C>T (p.Arg71Cys)	ERCC5, BIVM-ERCC5 (R71C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1319539	NM_000123.4(ERCC5):c.314C>T (p.Thr105Met)	ERCC5, BIVM-ERCC5 (T105M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 310914	NM_000123.4(ERCC5):c.542A>G (p.His181Arg)	BIVM-ERCC5, ERCC5 (H181R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2312976	NM_000123.4(ERCC5):c.550C>G (p.Gln184Glu)	BIVM-ERCC5, ERCC5 (Q184E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 883414	NM_000123.4(ERCC5):c.932C>G (p.Ser311Cys)	BIVM-ERCC5, ERCC5 (S765C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 310920	NM_000123.4(ERCC5):c.1232C>T (p.Thr411Met)	BIVM-ERCC5, ERCC5 (T411M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2459600	NM_000123.4(ERCC5):c.1307A>T (p.Asp436Val)	BIVM-ERCC5, ERCC5 (D436V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986267	NM_000123.4(ERCC5):c.1358_1359del (p.Ser453fs)	BIVM-ERCC5, ERCC5 (S453fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 881519	NM_000123.4(ERCC5):c.1498C>T (p.Arg500Trp)	BIVM-ERCC5, ERCC5 (R954W +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +1 more	GUncertain significance
Select item 2234448	NM_000123.4(ERCC5):c.1615C>T (p.His539Tyr)	BIVM-ERCC5, ERCC5 (H539Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1805670	NM_000123.4(ERCC5):c.1669G>A (p.Asp557Asn)	BIVM-ERCC5, ERCC5 (D1011N +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +1 more	GUncertain significance
Select item 16577	NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr)	BIVM-ERCC5, ERCC5 (A874T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 310936	NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)	BIVM-ERCC5, ERCC5 (V940M +1 more)	Single nucleotide variant (missense variant)	BIVM-ERCC5-related condition +6 more	GConflicting classifications of pathogenicity
Select item 2266558	NM_000123.4(ERCC5):c.3196G>A (p.Glu1066Lys)	BIVM-ERCC5, ERCC5 (E1520K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291949	NM_000123.4(ERCC5):c.3314C>G (p.Ala1105Gly)	ERCC5, BIVM-ERCC5 (A1105G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262918	NM_000123.4(ERCC5):c.3521G>A (p.Arg1174Lys)	ERCC5, BIVM-ERCC5 (R1174K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance