"Genetics and Molecular Pathology, SA Pathology"[submitter] AND "ERCC2 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134102	NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	ERCC2 (A717G)	Single nucleotide variant (missense variant)	ERCC2-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 16779	NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)	ERCC2 (L461V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity