C0268135[trait identifier] AND "Medical Molecular Genetics Department, - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 996	NM_000380.4(XPA):c.619C>T (p.Arg207Ter)	XPA (R207* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
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 267186	NM_000380.4(XPA):c.374del (p.Thr125fs)	XPA (T125fs +1 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum group A	GPathogenic

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