"Genetic Testing Center for Deafness, Department of Otolaryngology Hea - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627441	NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter)	ERCC2 (E100* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum, group D	GPathogenic
Select item 627440	NM_000400.4(ERCC2):c.184-1G>T	ERCC2	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group D	GPathogenic
Select item 627442	NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter)	ERCC2 (E41* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum, group D	GPathogenic

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