"Counsyl"[submitter] AND "LOC129936244"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554399	NM_004628.5(XPC):c.103+2T>G	LOC129936244, XPC	Single nucleotide variant (intron variant +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 553460	NM_004628.5(XPC):c.103+1G>A	LOC129936244, XPC	Single nucleotide variant (intron variant +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 551668	NM_004628.5(XPC):c.90GGA[6] (p.Glu34dup)	LOC129936244, XPC	Microsatellite (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 551359	NM_004628.5(XPC):c.55C>T (p.Gln19Ter)	LOC129936244, XPC (Q19*)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 135464	NM_004628.5(XPC):c.52A>C (p.Ser18Arg)	LOC129936244, XPC (S18R)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 555303	NM_004628.5(XPC):c.1A>T (p.Met1Leu)	LOC129936244, XPC (M1L)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551388	NM_004628.5(XPC):c.1A>G (p.Met1Val)	LOC129936244, XPC (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	Xeroderma pigmentosum, group C +2 more	GConflicting classifications of pathogenicity

ClinVar