"Claritas Genomics"[submitter] AND "XPC"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190215	NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)	TMEM43, XPC (Q939K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 190208	NM_004628.5(XPC):c.2262del (p.Asn754fs)	XPC (N672fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 190213	NM_004628.5(XPC):c.2251-1G>C	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C +3 more	GPathogenic
Select item 190214	NM_004628.5(XPC):c.2251-6A>C	XPC	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 190212	NM_004628.5(XPC):c.1881T>A (p.Ala627=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 190211	NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter)	XPC (Y559* +2 more)	Single nucleotide variant (nonsense +2 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 262	NM_004628.5(XPC):c.1643_1644del (p.Val548fs)	XPC (V548fs +2 more)	Microsatellite (frameshift variant +2 more)	XPC-related disorder +4 more	GPathogenic
Select item 190209	NM_004628.5(XPC):c.622-2A>C	XPC	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 135465	NM_004628.5(XPC):c.46C>G (p.Leu16Val)	LOC129936244, XPC (L16V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign