ClinVar for MedGen (Select 363064) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1363277	NM_000400.4(ERCC2):c.1867dup (p.Val623fs)	ERCC2 (V623fs)	Duplication (frameshift variant)	Trichothiodystrophy +2 more	GPathogenic
Select item 634549	NM_000400.4(ERCC2):c.1636G>A (p.Glu546Lys)	ERCC2 (E546K)	Single nucleotide variant (missense variant)	Trichothiodystrophy	GLikely pathogenic
Select item 16792	NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	ERCC2 (R722W)	Single nucleotide variant (missense variant)	ERCC2-related conditions +7 more	GPathogenic

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