"ITMI"[submitter] AND "XPC"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135472	NM_004628.5(XPC):c.2782A>C (p.Lys928Gln)	XPC (K928Q +4 more)	Single nucleotide variant (missense variant +1 more)	XPC-related condition +3 more	GBenign/Likely benign
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 135473	NM_004628.5(XPC):c.2621C>T (p.Pro874Leu)	XPC (P874L +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	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)	not provided +1 more	GUncertain significance
Select item 135468	NM_004628.5(XPC):c.2066C>T (p.Thr689Met)	XPC (T689M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 135469	NM_004628.5(XPC):c.2061G>A (p.Arg687=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 135467	NM_004628.5(XPC):c.1921T>C (p.Tyr641His)	XPC (Y641H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 135491	NM_004628.5(XPC):c.1841T>C (p.Phe614Ser)	XPC (F614S +2 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum, group C +1 more	GBenign/Likely benign
Select item 135486	NM_004628.5(XPC):c.1780C>T (p.Arg594Cys)	XPC (R594C +2 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum, group C +2 more	GConflicting classifications of pathogenicity
Select item 135490	NM_004628.5(XPC):c.1539G>C (p.Met513Ile)	XPC (M513I +2 more)	Single nucleotide variant (missense variant +1 more)	XPC-related condition +2 more	GBenign
Select item 135485	NM_004628.5(XPC):c.1496C>T (p.Ala499Val)	XPC (A499V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 135489	NM_004628.5(XPC):c.1475G>A (p.Arg492His)	XPC (R492H +2 more)	Single nucleotide variant (missense variant +1 more)	XPC-related condition +4 more	GBenign/Likely benign
Select item 135483	NM_004628.5(XPC):c.1229A>G (p.Glu410Gly)	XPC (E410G +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
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 +3 more	GUncertain significance
Select item 135488	NM_004628.5(XPC):c.1022C>G (p.Ala341Gly)	XPC (A341G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253	NM_004628.5(XPC):c.1001C>A (p.Pro334His)	XPC (P334H +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +4 more	GBenign/Likely benign
Select item 135487	NM_004628.5(XPC):c.1000C>T (p.Pro334Ser)	XPC (P334S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 135481	NM_004628.5(XPC):c.872C>G (p.Ser291Cys)	XPC (S291C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 135482	NM_004628.5(XPC):c.860T>G (p.Phe287Cys)	XPC (F287C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 135478	NM_004628.5(XPC):c.755A>G (p.Tyr252Cys)	XPC (Y252C +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 135480	NM_004628.5(XPC):c.736C>T (p.Pro246Ser)	XPC (P246S +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 135479	NM_004628.5(XPC):c.718C>T (p.Arg240Cys)	XPC (R240C +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 135477	NM_004628.5(XPC):c.597A>C (p.Lys199Asn)	XPC (K199N +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 135492	NM_004628.5(XPC):c.478G>T (p.Val160Leu)	XPC (V160L +1 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 135476	NM_004628.5(XPC):c.300G>A (p.Arg100=)	XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign
Select item 135475	NM_004628.5(XPC):c.142C>T (p.Leu48Phe)	XPC (L48F +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign/Likely benign
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 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
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

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Items: 30