"Baylor Genetics"[submitter] AND "XPC"[gene] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240752	NM_004628.5(XPC):c.2605-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679637	NM_004628.5(XPC):c.2552dup (p.Ala852fs)	XPC (A659fs +4 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 1341339	NM_004628.5(XPC):c.2525A>G (p.Lys842Arg)	XPC (K649R +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 2679636	NM_004628.5(XPC):c.2515A>T (p.Lys839Ter)	XPC (K646* +4 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679656	NM_004628.5(XPC):c.2421_2440del20 (p.Thr808fs)	XPC (T615fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 3240751	NM_004628.5(XPC):c.2432_2435dup (p.Val813fs)	XPC (V620fs +4 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679648	NM_004628.5(XPC):c.2421-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 963704	NM_004628.5(XPC):c.2420+2T>C	XPC	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely 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 2679645	NM_004628.5(XPC):c.2301del (p.Met767fs)	XPC (M574fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely 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 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 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 836224	NM_004628.5(XPC):c.2216_2217del (p.Glu739fs)	XPC (E546fs +4 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679642	NM_004628.5(XPC):c.2176_2192del (p.Glu726fs)	XPC (E533fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 3240749	NM_004628.5(XPC):c.2153del (p.Arg718fs)	XPC (R525fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 635329	NM_004628.5(XPC):c.2126_2129del (p.Gly709fs)	XPC (G516fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 3240748	NM_004628.5(XPC):c.2115+1G>C	XPC	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
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 1072652	NM_004628.5(XPC):c.2050_2051del (p.Leu684fs)	XPC (L491fs +4 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679650	NM_004628.5(XPC):c.2047_2048del (p.Thr683fs)	XPC (T490fs +4 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240756	NM_004628.5(XPC):c.2034-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 558179	NM_004628.5(XPC):c.2033+1G>A	XPC	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 1454617	NM_004628.5(XPC):c.2010T>A (p.Cys670Ter)	XPC (C477* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 997551	NM_004628.5(XPC):c.1946T>C (p.Leu649Pro)	XPC (L456P +3 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 2679655	NM_004628.5(XPC):c.1939_1942del (p.Tyr647fs)	XPC (Y454fs +3 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 1939311	NM_004628.5(XPC):c.1872+1G>A	XPC	Single nucleotide variant (splice donor variant +1 more)	Xeroderma pigmentosum, group C +1 more	GLikely pathogenic
Select item 561144	NM_004628.5(XPC):c.1872+1G>C	XPC	Single nucleotide variant (splice donor variant +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 2679649	NM_004628.5(XPC):c.1798dup (p.Ala600fs)	XPC (A407fs +2 more)	Duplication (frameshift variant +2 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679652	NM_004628.5(XPC):c.1752_1756del (p.Tyr585fs)	XPC (Y392fs +2 more)	Deletion (frameshift variant +2 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2581665	NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)	XPC (Y392C +2 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum, group C +1 more	GLikely 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 944047	NM_004628.5(XPC):c.1677C>G (p.Tyr559Ter)	XPC (Y553* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 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 343570	NM_004628.5(XPC):c.1616A>G (p.Glu539Gly)	XPC (E539G +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +2 more	GConflicting classifications of pathogenicity
Select item 2679644	NM_004628.5(XPC):c.1593G>A (p.Trp531Ter)	XPC (W338* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 1327098	NM_004628.5(XPC):c.1455G>T (p.Arg485Ser)	XPC (R292S +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 2679654	NM_004628.5(XPC):c.1420C>T (p.Gln474Ter)	XPC (Q281* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240754	NM_004628.5(XPC):c.1399C>T (p.Gln467Ter)	XPC (Q274* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GPathogenic
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 2679639	NM_004628.5(XPC):c.1336G>T (p.Glu446Ter)	XPC (E253* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 1438933	NM_004628.5(XPC):c.1306del (p.Ser436fs)	XPC (S430fs +2 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 2679643	NM_004628.5(XPC):c.1288dup (p.Tyr430fs)	XPC (Y237fs +2 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 1073314	NM_004628.5(XPC):c.1266del (p.Arg423fs)	XPC (R230fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 997481	NM_004628.5(XPC):c.1133G>A (p.Arg378Lys)	XPC (R185K +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +3 more	GConflicting classifications of pathogenicity
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 2679640	NM_004628.5(XPC):c.1102C>T (p.Gln368Ter)	XPC (Q175* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 3240753	NM_004628.5(XPC):c.1067_1077del (p.Asn356fs)	XPC (N163fs +2 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 3240750	NM_004628.5(XPC):c.992del	XPC	Deletion (splice acceptor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2732875	NM_004628.5(XPC):c.991-2A>C	XPC	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2734445	NM_004628.5(XPC):c.990+1G>A	XPC	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679651	NM_004628.5(XPC):c.977C>G (p.Ser326Ter)	XPC (S133* +2 more)	Single nucleotide variant (nonsense +1 more)	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 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 2679638	NM_004628.5(XPC):c.861dup (p.Ala288fs)	XPC (A282fs +2 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 3240755	NM_004628.5(XPC):c.780-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 1028796	NM_004628.5(XPC):c.780-2A>T	XPC	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely 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 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 998250	NM_004628.5(XPC):c.728G>A (p.Arg243Lys)	XPC (R237K +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 2679653	NM_004628.5(XPC):c.673_692dup (p.Ile232fs)	XPC (I226fs +2 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
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 2679646	NM_004628.5(XPC):c.621+1G>A	XPC	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum, group C +1 more	GLikely pathogenic
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 2139390	NM_004628.5(XPC):c.525_526del (p.Glu177fs)	XPC (E171fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2805968	NM_004628.5(XPC):c.514C>T (p.Gln172Ter)	XPC (Q172* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 2679641	NM_004628.5(XPC):c.385dup (p.Ser129fs)	XPC (S123fs +1 more)	Duplication (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C	GLikely 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 2679647	NM_004628.5(XPC):c.362del (p.Asp121fs)	XPC (D115fs +1 more)	Deletion (5 prime UTR variant +2 more)	not provided +1 more	GPathogenic
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 762370	NM_004628.5(XPC):c.203A>T (p.Asp68Val)	XPC (D68V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +1 more	GConflicting classifications of pathogenicity
Select item 3240757	NM_004628.5(XPC):c.155C>G (p.Ser52Ter)	XPC (S46* +1 more)	Single nucleotide variant (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 959809	NM_004628.5(XPC):c.104-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely 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 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 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
Select item 1163244	NM_004628.5(XPC):c.26G>T (p.Gly9Val)	LOC129936244, XPC (G9V)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 903488	NM_004628.5(XPC):c.17C>G (p.Ala6Gly)	XPC, LOC129936244 (A6G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 87