"Fulgent Genetics, Fulgent Genetics"[submitter] AND "XPA"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523608	NM_000380.4(XPA):c.772_785del (p.Arg258fs)	XPA (R216fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 995	NM_000380.4(XPA):c.682C>T (p.Arg228Ter)	XPA (R186*)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum group A +2 more	GPathogenic
Select item 996	NM_000380.4(XPA):c.619C>T (p.Arg207Ter)	XPA (R207* +1 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum +2 more	GPathogenic
Select item 1692417	NM_000380.4(XPA):c.599T>C (p.Leu200Ser)	XPA (L158S +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group A +1 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 267185	NM_000380.4(XPA):c.553C>T (p.Gln185Ter)	XPA (Q185* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 557900	NM_000380.4(XPA):c.331G>T (p.Glu111Ter)	XPA (E111* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic