"Sema4, Sema4"[submitter] AND "LOC129936244"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801938	NM_004628.5(XPC):c.90GGA[4] (p.Glu34del)	LOC129936244, XPC (E34del)	Microsatellite (5 prime UTR variant +3 more)	Xeroderma pigmentosum +2 more	GConflicting classifications of pathogenicity
Select item 1692832	NM_004628.5(XPC):c.91G>A (p.Glu31Lys)	LOC129936244, XPC (E31K)	Single nucleotide variant (5 prime UTR variant +3 more)	Xeroderma pigmentosum	GUncertain significance
Select item 135466	NM_004628.5(XPC):c.37G>C (p.Gly13Arg)	LOC129936244, XPC (G13R)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +2 more	GUncertain significance
Select item 1692818	NM_004628.5(XPC):c.15C>T (p.Arg5=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum	GLikely benign
Select item 1692817	NM_004628.5(XPC):c.10A>G (p.Lys4Glu)	LOC129936244, XPC (K4E)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692831	NM_004628.5(XPC):c.8G>A (p.Arg3Gln)	LOC129936244, XPC (R3Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum	GUncertain significance

ClinVar