"PreventionGenetics, part of Exact Sciences"[submitter] AND "XPC"[gene - ClinVar

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Items: 33

	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 specified +4 more	GBenign/Likely benign
Select item 135472	NM_004628.5(XPC):c.2782A>C (p.Lys928Gln)	XPC (K928Q +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +3 more	GBenign/Likely benign
Select item 1152276	NM_004628.5(XPC):c.2697A>C (p.Ile899=)	XPC	Single nucleotide variant (synonymous variant +1 more)	XPC-related disorder +1 more	GLikely benign
Select item 2630396	NM_004628.5(XPC):c.2605-9_2609del	XPC	Deletion (splice acceptor variant)	XPC-related disorder	GUncertain significance
Select item 259471	NM_004628.5(XPC):c.2605-40A>G	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group C +3 more	GBenign
Select item 830381	NM_004628.5(XPC):c.2421-25_2604+301del	XPC	Deletion (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 259470	NM_004628.5(XPC):c.2604+28C>G	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group C +3 more	GBenign
Select item 190213	NM_004628.5(XPC):c.2251-1G>C	XPC	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic
Select item 190214	NM_004628.5(XPC):c.2251-6A>C	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group A +3 more	GBenign
Select item 259469	NM_004628.5(XPC):c.2251-37C>G	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group C +3 more	GBenign
Select item 695560	NM_004628.5(XPC):c.2088G>A (p.Val696=)	XPC	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum +3 more	GConflicting classifications of pathogenicity
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 259468	NM_004628.5(XPC):c.2033+4C>T	XPC	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 712980	NM_004628.5(XPC):c.2028C>T (p.Tyr676=)	XPC	Single nucleotide variant (synonymous variant +1 more)	XPC-related disorder +3 more	GBenign
Select item 732520	NM_004628.5(XPC):c.2022G>A (p.Ala674=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 830380	NM_004628.5(XPC):c.1709T>G (p.Val570Gly)	XPC (V564G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 +4 more	GPathogenic
Select item 135490	NM_004628.5(XPC):c.1539G>C (p.Met513Ile)	XPC (M513I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Xeroderma pigmentosum group A +4 more	GBenign/Likely benign
Select item 259466	NM_004628.5(XPC):c.1443G>T (p.Lys481Asn)	XPC (K481N +2 more)	Single nucleotide variant (missense 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 +2 more	GBenign/Likely benign
Select item 1128034	NM_004628.5(XPC):c.1233G>A (p.Lys411=)	XPC	Single nucleotide variant (synonymous variant +1 more)	XPC-related disorder +1 more	GLikely benign
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 259475	NM_004628.5(XPC):c.901-22A>G	XPC	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 259474	NM_004628.5(XPC):c.780-15C>T	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group C +3 more	GBenign/Likely benign
Select item 259473	NM_004628.5(XPC):c.622-16C>G	XPC	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 259472	NM_004628.5(XPC):c.621+44C>G	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group C +3 more	GBenign
Select item 1319090	NM_004628.5(XPC):c.572G>A (p.Arg191Gln)	XPC (R185Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	XPC-related disorder +1 more	GConflicting classifications of pathogenicity
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 259467	NM_004628.5(XPC):c.147C>T (p.Ser49=)	XPC	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +2 more	GBenign/Likely benign
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 259465	NM_004628.5(XPC):c.-27G>C	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign

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Items: 33