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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 900778	NM_004628.5(XPC):c.*624A>C	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 550681	NM_004628.5(XPC):c.*156G>A	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 135474	NM_004628.5(XPC):c.2633C>G (p.Ala878Gly)	XPC (A878G +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 135471	NM_004628.5(XPC):c.2537G>C (p.Gly846Ala)	XPC (G846A +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 135470	NM_004628.5(XPC):c.2404G>A (p.Gly802Ser)	XPC (G802S +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 190213	NM_004628.5(XPC):c.2251-1G>C	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C +2 more	GPathogenic
Select item 551486	NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)	XPC (R718* +4 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C +2 more	GPathogenic/Likely pathogenic
Select item 259	NM_004628.5(XPC):c.1735C>T (p.Arg579Ter)	XPC (R579* +2 more)	Single nucleotide variant (nonsense +2 more)	Xeroderma pigmentosum, group C +2 more	GPathogenic
Select item 262	NM_004628.5(XPC):c.1643_1644del (p.Val548fs)	XPC (V548fs +2 more)	Microsatellite (frameshift variant +2 more)	Xeroderma pigmentosum, group C +3 more	GPathogenic
Select item 785035	NM_004628.5(XPC):c.1497G>A (p.Ala499=)	XPC	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group C +2 more	GBenign/Likely benign
Select item 695561	NM_004628.5(XPC):c.1362T>C (p.Asp454=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 135484	NM_004628.5(XPC):c.1177C>T (p.Arg393Trp)	XPC (R393W +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +3 more	GUncertain significance
Select item 267279	NM_004628.5(XPC):c.1103_1104del (p.Gln368fs)	XPC (Q362fs +2 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C +2 more	GPathogenic
Select item 900926	NM_004628.5(XPC):c.1022C>T (p.Ala341Val)	XPC (A148V +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 135487	NM_004628.5(XPC):c.1000C>T (p.Pro334Ser)	XPC (P334S +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +2 more	GBenign/Likely benign
Select item 496268	NM_004628.5(XPC):c.463C>T (p.Arg155Ter)	XPC (R155* +1 more)	Single nucleotide variant (nonsense +2 more)	Xeroderma pigmentosum +2 more	GPathogenic
Select item 1692821	NM_004628.5(XPC):c.205G>C (p.Gly69Arg)	XPC (G63R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum +1 more	GUncertain significance
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 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