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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 343511	NM_024334.3(TMEM43):c.*115T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +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 343558	NM_004628.5(XPC):c.*192T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C +3 more	GLikely benign
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 190215	NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)	TMEM43, XPC (Q939K +4 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GBenign/Likely benign
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 1248238	NM_004628.5(XPC):c.2605-51A>G	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198186	NM_004628.5(XPC):c.2605-56C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248215	NM_004628.5(XPC):c.2604+90G>T	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259470	NM_004628.5(XPC):c.2604+28C>G	XPC	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1183056	NM_004628.5(XPC):c.2515-198C>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248671	NM_004628.5(XPC):c.2514+261T>C	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243736	NM_004628.5(XPC):c.2514+68T>C	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221328	NM_004628.5(XPC):c.2421-76T>C	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197949	NM_004628.5(XPC):c.2421-173A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259333	NM_004628.5(XPC):c.2421-249C>T	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215615	NM_004628.5(XPC):c.2420+42G>A	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 135470	NM_004628.5(XPC):c.2404G>A (p.Gly802Ser)	XPC (G802S +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
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 1810487	NM_004628.5(XPC):c.2257C>T (p.Arg753Trp)	XPC (R560W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 190214	NM_004628.5(XPC):c.2251-6A>C	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group C +3 more	GBenign
Select item 1810492	NM_004628.5(XPC):c.2251-12_2251-8delinsAACCG	XPC	Indel (intron variant)	not provided	GUncertain significance
Select item 259469	NM_004628.5(XPC):c.2251-37C>G	XPC	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 695673	NM_004628.5(XPC):c.2232A>C (p.Pro744=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1177672	NM_004628.5(XPC):c.2116-42G>A	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214595	NM_004628.5(XPC):c.2116-153dup	XPC	Duplication (intron variant)	not provided	GLikely benign
Select item 2446605	NM_004628.5(XPC):c.2116-195C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178620	NM_004628.5(XPC):c.2116-325C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215905	NM_004628.5(XPC):c.2115+227A>C	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198982	NM_004628.5(XPC):c.2115+136G>A	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 135468	NM_004628.5(XPC):c.2066C>T (p.Thr689Met)	XPC (T689M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +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)	Xeroderma pigmentosum, group C +3 more	GBenign
Select item 1282354	NM_004628.5(XPC):c.2034-178A>C	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222507	NM_004628.5(XPC):c.2034-273G>A	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273262	NM_004628.5(XPC):c.2033+289T>C	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223722	NM_004628.5(XPC):c.2033+183_2033+184del	XPC	Deletion (intron variant)	not provided	GLikely benign
Select item 1190712	NM_004628.5(XPC):c.2033+123A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200753	NM_004628.5(XPC):c.2033+57C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 135491	NM_004628.5(XPC):c.1841T>C (p.Phe614Ser)	XPC (F614S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
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 3342986	NM_004628.5(XPC):c.1552G>A (p.Glu518Lys)	XPC (E325K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 135485	NM_004628.5(XPC):c.1496C>T (p.Ala499Val)	XPC (A499V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +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)	not specified +3 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 +1 more	GBenign/Likely benign
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 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 +3 more	GBenign/Likely benign
Select item 1245293	NM_004628.5(XPC):c.991-81C>T	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211751	NM_004628.5(XPC):c.991-100T>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208022	NM_004628.5(XPC):c.990+46A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259475	NM_004628.5(XPC):c.901-22A>G	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group C +3 more	GBenign
Select item 1291862	NM_004628.5(XPC):c.901-70A>C	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252748	NM_004628.5(XPC):c.901-126C>G	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196962	NM_004628.5(XPC):c.901-227T>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200112	NM_004628.5(XPC):c.901-280A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278364	NM_004628.5(XPC):c.900+196G>A	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135482	NM_004628.5(XPC):c.860T>G (p.Phe287Cys)	XPC (F287C +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +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 1240813	NM_004628.5(XPC):c.780-139T>C	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
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 452115	NM_004628.5(XPC):c.690dup (p.Ala231fs)	XPC (A231fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 259473	NM_004628.5(XPC):c.622-16C>G	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group C +3 more	GBenign
Select item 1185965	NM_004628.5(XPC):c.621+272C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259472	NM_004628.5(XPC):c.621+44C>G	XPC	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1253057	NM_004628.5(XPC):c.621+39C>T	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188615	NM_004628.5(XPC):c.621+28C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187408	NM_004628.5(XPC):c.621+24del	XPC	Deletion (intron variant)	not provided	GLikely benign
Select item 1266004	NM_004628.5(XPC):c.621+22G>A	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
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 1193158	NM_004628.5(XPC):c.536+328C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197693	NM_004628.5(XPC):c.536+236_536+242del	XPC	Deletion (intron variant)	not provided	GLikely benign
Select item 1272978	NM_004628.5(XPC):c.413-159T>C	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215716	NM_004628.5(XPC):c.412+298A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707118	NM_004628.5(XPC):c.412+119A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283152	NM_004628.5(XPC):c.412+73G>T	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707117	NM_004628.5(XPC):c.412+34G>A	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1205297	NM_004628.5(XPC):c.300-108C>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191979	NM_004628.5(XPC):c.300-190A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245842	NM_004628.5(XPC):c.300-208G>T	XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179959	NM_004628.5(XPC):c.299+267T>C	XPC	Single nucleotide variant (intron variant)	not provided	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)	Xeroderma pigmentosum, group C +3 more	GBenign/Likely benign
Select item 1707382	NM_004628.5(XPC):c.104-88A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186554	NM_004628.5(XPC):c.103+242C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely 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)	Xeroderma pigmentosum, group C +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
Select item 1201213	NM_004628.5(XPC):c.-22G>A	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 259465	NM_004628.5(XPC):c.-27G>C	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group C +3 more	GBenign
Select item 343591	NM_004628.4(XPC):c.-71C>T	LOC129936244, XPC	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 1201875	NC_000003.12:g.14178765CT[1]	XPC	Microsatellite	not provided	GLikely benign
Select item 1167092	NC_000003.12:g.14178939C>T	LSM3, XPC	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1283981	NC_000003.12:g.14179017C>G	LSM3, XPC	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 95