C2752147[trait identifier] AND "Counsyl"[submitter] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 557637	NM_004628.5(XPC):c.2782A>T (p.Lys928Ter)	XPC (K928* +4 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 555045	NM_004628.5(XPC):c.2765_2773del (p.Lys922_Lys924del)	XPC	Deletion (inframe_deletion +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 558629	NM_004628.5(XPC):c.2724AGA[1] (p.Glu909del)	XPC (E909del +4 more)	Microsatellite (inframe_deletion +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 551033	NM_004628.5(XPC):c.2722C>T (p.Arg908Ter)	XPC (R908* +4 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 556883	NM_004628.5(XPC):c.2703del (p.Ala902fs)	XPC (A709fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 553308	NM_004628.5(XPC):c.2633del (p.Ala878fs)	XPC (A878fs +4 more)	Deletion (frameshift 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 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 550023	NM_004628.5(XPC):c.2605-2A>T	XPC	Single nucleotide variant (splice acceptor variant)	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 551745	NM_004628.5(XPC):c.2336dup (p.His780fs)	XPC (H587fs +4 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 555832	NM_004628.5(XPC):c.2331dup (p.Asn778fs)	XPC (N776fs +4 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550662	NM_004628.5(XPC):c.2317C>T (p.Gln773Ter)	XPC (Q773* +4 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 558141	NM_004628.5(XPC):c.2287del (p.Leu763fs)	XPC (L681fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 558243	NM_004628.5(XPC):c.2251-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 557140	NM_004628.5(XPC):c.2218G>T (p.Glu740Ter)	XPC (E740* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 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 552436	NM_004628.5(XPC):c.2116-1G>A	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 557297	NM_004628.5(XPC):c.2101G>T (p.Glu701Ter)	XPC (E701* +4 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 553916	NM_004628.5(XPC):c.2086GTG[3] (p.Val697_Arg698insVal)	XPC	Microsatellite (inframe_insertion +1 more)	not specified +1 more	GUncertain significance
Select item 496267	NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)	XPC (K692* +4 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum +2 more	GPathogenic
Select item 554256	NM_004628.5(XPC):c.2033+5G>A	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
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 553710	NM_004628.5(XPC):c.2011C>T (p.Arg671Cys)	XPC (R671C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 555481	NM_004628.5(XPC):c.1934del (p.Pro645fs)	XPC (P645fs +3 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
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 555204	NM_004628.5(XPC):c.1750_1751del (p.Arg584fs)	XPC (R391fs +2 more)	Microsatellite (frameshift variant +2 more)	not provided +1 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 558522	NM_004628.5(XPC):c.1686del (p.Thr563fs)	XPC (T370fs +2 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 190211	NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter)	XPC (Y559* +2 more)	Single nucleotide variant (nonsense +2 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 558678	NM_004628.5(XPC):c.1673_1675dup (p.Cys558dup)	XPC	Duplication (inframe_insertion +2 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 549952	NM_004628.5(XPC):c.1564A>T (p.Lys522Ter)	XPC (K522* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
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 550935	NM_004628.5(XPC):c.1465_1476del (p.Gly489_Arg492del)	XPC	Deletion (inframe_deletion +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 552854	NM_004628.5(XPC):c.1464_1466del (p.Gly489del)	XPC (G489del +2 more)	Deletion (inframe_deletion +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 555393	NM_004628.5(XPC):c.1421dup (p.Arg475fs)	XPC (R282fs +2 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552454	NM_004628.5(XPC):c.1381G>T (p.Glu461Ter)	XPC (E461* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 556820	NM_004628.5(XPC):c.1328_1329del (p.Gly442_Ser443insTer)	XPC	Microsatellite (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 556913	NM_004628.5(XPC):c.1293_1294insT (p.Glu432Ter)	XPC (E426* +2 more)	Insertion (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 558241	NM_004628.5(XPC):c.1289_1293del (p.Ser429_Tyr430insTer)	XPC	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 256	NM_004628.5(XPC):c.1292_1293del (p.Lys431fs)	XPC (K238fs +2 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 438623	NM_004628.5(XPC):c.1243C>T (p.Arg415Ter)	XPC (R415* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
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 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 550157	NM_004628.5(XPC):c.1143dup (p.Lys382fs)	XPC (K376fs +2 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
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 555333	NM_004628.5(XPC):c.991-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 551337	NM_004628.5(XPC):c.958C>T (p.Gln320Ter)	XPC (Q320* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 554582	NM_004628.5(XPC):c.915dup (p.Leu306fs)	XPC (L300fs +2 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 554485	NM_004628.5(XPC):c.877C>T (p.Arg293Ter)	XPC (R293* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C +2 more	GPathogenic
Select item 555583	NM_004628.5(XPC):c.779+1G>A	XPC	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 554889	NM_004628.5(XPC):c.779+1G>T	XPC	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 556301	NM_004628.5(XPC):c.739C>T (p.Arg247Ter)	XPC (R247* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
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 550020	NM_004628.5(XPC):c.658C>T (p.Arg220Ter)	XPC (R220* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C +2 more	GPathogenic
Select item 550100	NM_004628.5(XPC):c.622-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 190209	NM_004628.5(XPC):c.622-2A>C	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum +2 more	GPathogenic
Select item 558646	NM_004628.5(XPC):c.621+2dup	XPC	Duplication (splice donor variant)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 558641	NM_004628.5(XPC):c.618_619del (p.His206fs)	XPC (H200fs +2 more)	Microsatellite (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
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 258	NM_004628.5(XPC):c.566_567del (p.Tyr189fs)	XPC (Y189fs +1 more)	Microsatellite (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +2 more	GConflicting classifications of pathogenicity
Select item 557580	NM_004628.5(XPC):c.537-1G>C	XPC	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 553705	NM_004628.5(XPC):c.515dup (p.Ala173fs)	XPC (A173fs +1 more)	Duplication (frameshift variant +2 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
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 557065	NM_004628.5(XPC):c.445_446del (p.Glu149fs)	XPC (E143fs +1 more)	Microsatellite (frameshift variant +2 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 550638	NM_004628.5(XPC):c.420_423del (p.Glu141fs)	XPC (E135fs +1 more)	Deletion (frameshift variant +2 more)	not provided +2 more	GPathogenic
Select item 557268	NM_004628.5(XPC):c.409dup (p.Glu137fs)	XPC (E131fs +1 more)	Duplication (5 prime UTR variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554298	NM_004628.5(XPC):c.368del (p.Asn123fs)	XPC (N123fs +1 more)	Deletion (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 557411	NM_004628.5(XPC):c.351_352insGTA (p.Thr117_Met118insVal)	XPC	Insertion (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 553148	NM_004628.5(XPC):c.342_343del (p.Ala116fs)	XPC (A110fs +1 more)	Microsatellite (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic
Select item 551510	NM_004628.5(XPC):c.299+1G>A	XPC	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum, group C +1 more	GLikely pathogenic
Select item 554251	NM_004628.5(XPC):c.147del (p.Val51fs)	XPC (V51fs +1 more)	Deletion (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 551235	NM_004628.5(XPC):c.128del (p.Pro43fs)	XPC (P37fs +1 more)	Deletion (5 prime UTR variant +2 more)	not provided +1 more	GPathogenic
Select item 554399	NM_004628.5(XPC):c.103+2T>G	LOC129936244, XPC	Single nucleotide variant (intron variant +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 553460	NM_004628.5(XPC):c.103+1G>A	LOC129936244, XPC	Single nucleotide variant (intron variant +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
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 551359	NM_004628.5(XPC):c.55C>T (p.Gln19Ter)	LOC129936244, XPC (Q19*)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
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 555303	NM_004628.5(XPC):c.1A>T (p.Met1Leu)	LOC129936244, XPC (M1L)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551388	NM_004628.5(XPC):c.1A>G (p.Met1Val)	LOC129936244, XPC (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	Xeroderma pigmentosum, group C +2 more	GConflicting classifications of pathogenicity

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Items: 86