"ITMI"[submitter] AND "XPA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135462	NM_000380.4(XPA):c.772C>T (p.Arg258Cys)	XPA (R258C +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 135460	NM_000380.4(XPA):c.766A>G (p.Met256Val)	XPA (M256V +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group A +1 more	GBenign/Likely benign
Select item 135461	NM_000380.4(XPA):c.754C>G (p.Leu252Val)	XPA (L252V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 135463	NM_000380.4(XPA):c.683G>A (p.Arg228Gln)	XPA (R228Q +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +2 more	GUncertain significance
Select item 135458	NM_000380.4(XPA):c.571C>G (p.Leu191Val)	XPA (L191V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 135459	NM_000380.4(XPA):c.568T>G (p.Ser190Ala)	XPA (S190A +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group A +2 more	GBenign/Likely benign
Select item 135457	NM_000380.4(XPA):c.497T>C (p.Val166Ala)	XPA (V166A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

ClinVar