"Illumina Laboratory Services, Illumina"[submitter] AND "XPC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 343511	NM_024334.3(TMEM43):c.*115T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 343512	NM_024334.3(TMEM43):c.*217G>A	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 343515	NM_024334.3(TMEM43):c.*277C>T	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343516	NM_024334.3(TMEM43):c.*312A>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343518	NM_024334.3(TMEM43):c.*463A>G	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343520	NM_024334.3(TMEM43):c.*719G>T	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GBenign/Likely benign
Select item 343522	NM_024334.3(TMEM43):c.*766CAAAA[1]	TMEM43, XPC	Microsatellite (3 prime UTR variant)	Xeroderma pigmentosum +1 more	GBenign/Likely benign
Select item 343523	NM_024334.3(TMEM43):c.*779A>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343527	NM_024334.3(TMEM43):c.*924T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343532	NM_024334.3(TMEM43):c.*1160A>G	XPC, TMEM43	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343535	NM_024334.3(TMEM43):c.*1374T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343536	NM_024334.3(TMEM43):c.*1424T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343548	NM_004628.5(XPC):c.*792A>G	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343549	NM_004628.5(XPC):c.*756T>C	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343550	NM_004628.5(XPC):c.*684G>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C +2 more	GBenign/Likely benign
Select item 900776	NM_004628.5(XPC):c.*682A>G	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 900777	NM_004628.5(XPC):c.*648C>T	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
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 343551	NM_004628.5(XPC):c.*618A>G	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GBenign/Likely benign
Select item 900779	NM_004628.5(XPC):c.*611T>C	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343552	NM_004628.5(XPC):c.*611T>A	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GBenign/Likely benign
Select item 343553	NM_004628.5(XPC):c.*483A>C	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343554	NM_004628.5(XPC):c.*452G>A	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343555	NM_004628.5(XPC):c.*428G>A	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 343556	NM_004628.5(XPC):c.*411dup	XPC	Duplication (3 prime UTR variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 369401	NM_004628.5(XPC):c.397_400del	TMEM43, XPC	Deletion (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 343557	NM_004628.5(XPC):c.*270A>G	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GLikely benign
Select item 343558	NM_004628.5(XPC):c.*192T>C	XPC, TMEM43	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GLikely benign
Select item 902445	NM_004628.5(XPC):c.*139G>T	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343559	NM_004628.5(XPC):c.*133G>A	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 343560	NM_004628.5(XPC):c.*96C>G	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GBenign/Likely benign
Select item 343561	NM_004628.5(XPC):c.*89G>C	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 190215	NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)	TMEM43, XPC (Q939K +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +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)	XPC-related condition +3 more	GBenign/Likely benign
Select item 903308	NM_004628.5(XPC):c.2596G>A (p.Gly866Arg)	XPC (G860R +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343562	NM_004628.5(XPC):c.2591G>A (p.Arg864His)	XPC (R864H +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343563	NM_004628.5(XPC):c.2515A>G (p.Lys839Glu)	XPC (K839E +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 903309	NM_004628.5(XPC):c.2514+6C>T	XPC	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 712680	NM_004628.5(XPC):c.2496T>C (p.Ile832=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 343564	NM_004628.5(XPC):c.2421-11T>C	XPC, TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GBenign/Likely benign
Select item 899702	NM_004628.5(XPC):c.2418C>A (p.Pro806=)	XPC	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 899703	NM_004628.5(XPC):c.2412C>T (p.Ser804=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899704	NM_004628.5(XPC):c.2351G>A (p.Arg784His)	XPC (R782H +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +2 more	GUncertain significance
Select item 190214	NM_004628.5(XPC):c.2251-6A>C	XPC	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 899705	NM_004628.5(XPC):c.2251-7G>A	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group C +1 more	GConflicting classifications of pathogenicity
Select item 738187	NM_004628.5(XPC):c.2250+6G>A	XPC	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1342722	NM_004628.5(XPC):c.2250+1G>A	XPC	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum, group C	GPathogenic
Select item 731076	NM_004628.5(XPC):c.2238C>T (p.Ala746=)	XPC	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group C +2 more	GConflicting classifications of pathogenicity
Select item 557267	NM_004628.5(XPC):c.2194dup (p.Leu732fs)	XPC (L539fs +4 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 900851	NM_004628.5(XPC):c.2174G>A (p.Arg725Gln)	XPC (R532Q +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343565	NM_004628.5(XPC):c.2161G>A (p.Glu721Lys)	XPC (E721K +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 343566	NM_004628.5(XPC):c.2138G>A (p.Arg713His)	XPC (R713H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 900852	NM_004628.5(XPC):c.2137C>T (p.Arg713Cys)	XPC (R711C +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
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 712980	NM_004628.5(XPC):c.2028C>T (p.Tyr676=)	XPC	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group C +3 more	GBenign
Select item 902528	NM_004628.5(XPC):c.2020G>T (p.Ala674Ser)	XPC (A674S +3 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343567	NM_004628.5(XPC):c.1984G>A (p.Glu662Lys)	XPC (E662K +3 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 902529	NM_004628.5(XPC):c.1947G>A (p.Leu649=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 902530	NM_004628.5(XPC):c.1942G>T (p.Ala648Ser)	XPC (A566S +3 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 902531	NM_004628.5(XPC):c.1913T>C (p.Ile638Thr)	XPC (I445T +3 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 343568	NM_004628.5(XPC):c.1873-10G>T	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group C	GUncertain significance
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 343569	NM_004628.5(XPC):c.1823G>A (p.Arg608Lys)	XPC (R608K +2 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 903380	NM_004628.5(XPC):c.1781G>A (p.Arg594His)	XPC (R594H +2 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 135486	NM_004628.5(XPC):c.1780C>T (p.Arg594Cys)	XPC (R594C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 720863	NM_004628.5(XPC):c.1734C>A (p.Val578=)	XPC	Single nucleotide variant (synonymous variant +2 more)	Xeroderma pigmentosum, group C +1 more	GBenign
Select item 262	NM_004628.5(XPC):c.1643_1644del (p.Val548fs)	XPC (V548fs +2 more)	Microsatellite (frameshift variant +2 more)	XPC-related condition +4 more	GPathogenic
Select item 903381	NM_004628.5(XPC):c.1634T>C (p.Val545Ala)	XPC (V352A +2 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343570	NM_004628.5(XPC):c.1616A>G (p.Glu539Gly)	XPC (E539G +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +2 more	GConflicting classifications of pathogenicity
Select item 343571	NM_004628.5(XPC):c.1539G>A (p.Met513Ile)	XPC (M513I +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
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 899765	NM_004628.5(XPC):c.1531A>C (p.Lys511Gln)	XPC (K511Q +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 756305	NM_004628.5(XPC):c.1509C>T (p.Ser503=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 899766	NM_004628.5(XPC):c.1474C>A (p.Arg492Ser)	XPC (R486S +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343572	NM_004628.5(XPC):c.1469G>A (p.Ser490Asn)	XPC (S490N +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
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 797284	NM_004628.5(XPC):c.1365C>T (p.Pro455=)	XPC	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group C +1 more	GConflicting classifications of pathogenicity
Select item 343573	NM_004628.5(XPC):c.1268G>A (p.Arg423Gln)	XPC (R423Q +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 900924	NM_004628.5(XPC):c.1246C>G (p.Arg416Gly)	XPC (R223G +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 343574	NM_004628.5(XPC):c.1185G>A (p.Lys395=)	XPC	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group C	GConflicting classifications of pathogenicity
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 343575	NM_004628.5(XPC):c.1131C>T (p.Cys377=)	XPC	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group C +1 more	GConflicting classifications of pathogenicity
Select item 900925	NM_004628.5(XPC):c.1023G>A (p.Ala341=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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, group C +1 more	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)	XPC-related condition +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)	Xeroderma pigmentosum, group C +2 more	GBenign/Likely benign
Select item 902588	NM_004628.5(XPC):c.940C>T (p.Arg314Trp)	XPC (R121W +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
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 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 902589	NM_004628.5(XPC):c.779+12C>G	XPC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 902590	NM_004628.5(XPC):c.779+11C>T	XPC	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 902591	NM_004628.5(XPC):c.574A>G (p.Arg192Gly)	XPC (R192G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 258	NM_004628.5(XPC):c.566_567del (p.Tyr189fs)	XPC (Y189fs +1 more)	Microsatellite (5 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 343576	NM_004628.5(XPC):c.537-16dup	XPC	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903434	NM_004628.5(XPC):c.536+11G>T	XPC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343577	NM_004628.5(XPC):c.413-4A>G	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum +2 more	GConflicting classifications of pathogenicity

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