ClinVar for MedGen (Select 416702) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24386271.	NM_004628.5(XPC):c.806C>G (p.Ala269Gly) GRCh37: Chr3:14206407 GRCh38: Chr3:14164907	XPC	A263G, A269G, A76G	Xeroderma pigmentosum, group C	Uncertain significance (May 9, 2019)	criteria provided, single submitter
Select item 24386262.	NM_004628.5(XPC):c.1246C>T (p.Arg416Cys) GRCh37: Chr3:14200137 GRCh38: Chr3:14158637	XPC	R223C, R410C, R416C	Xeroderma pigmentosum, group C	Uncertain significance (Jan 6, 2020)	criteria provided, single submitter
Select item 24317323.	NM_004628.5(XPC):c.1969G>T (p.Glu657Ter) GRCh37: Chr3:14197899 GRCh38: Chr3:14156399	XPC	E464, E575, E651, E657	Xeroderma pigmentosum, group C	Likely pathogenic (Jan 13, 2023)	criteria provided, single submitter
Select item 24317224.	NM_004628.5(XPC):c.919C>T (p.Arg307Trp) GRCh37: Chr3:14201312 GRCh38: Chr3:14159812	XPC	R114W, R301W, R307W	Xeroderma pigmentosum, group C	Uncertain significance (Oct 29, 2022)	criteria provided, single submitter
Select item 16928255.	NM_004628.5(XPC):c.259G>C (p.Val87Leu) GRCh37: Chr3:14214407 GRCh38: Chr3:14172907	XPC	V81L, V87L	Xeroderma pigmentosum, group C, Xeroderma pigmentosum	Uncertain significance (Dec 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16928216.	NM_004628.5(XPC):c.205G>C (p.Gly69Arg) GRCh37: Chr3:14214461 GRCh38: Chr3:14172961	XPC	G63R, G69R	Xeroderma pigmentosum, Xeroderma pigmentosum, group C	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16854767.	NM_004628.5(XPC):c.749A>G (p.Asp250Gly) GRCh37: Chr3:14206958 GRCh38: Chr3:14165458	XPC	D244G, D250G, D57G	Xeroderma pigmentosum, Xeroderma pigmentosum, group C	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 16842388.	NM_004628.5(XPC):c.1897C>T (p.Pro633Ser) GRCh37: Chr3:14197971 GRCh38: Chr3:14156471	XPC	P440S, P551S, P627S, P633S	Xeroderma pigmentosum, group C	Benign (Dec 5, 2021)	criteria provided, single submitter
Select item 13427229.	NM_004628.5(XPC):c.2250+1G>A GRCh37: Chr3:14190313 GRCh38: Chr3:14148813	XPC		Xeroderma pigmentosum, group C	Pathogenic (Feb 25, 2022)	no assertion criteria provided
Select item 134133910.	NM_004628.5(XPC):c.2525A>G (p.Lys842Arg) GRCh37: Chr3:14188869 GRCh38: Chr3:14147369	XPC	K649R, K760R, K836R, K840R, K842R	Xeroderma pigmentosum, group C	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 132709811.	NM_004628.5(XPC):c.1455G>T (p.Arg485Ser) GRCh37: Chr3:14199928 GRCh38: Chr3:14158428	XPC	R292S, R479S, R485S	Xeroderma pigmentosum, group C	Uncertain significance (Mar 2, 2021)	criteria provided, single submitter
Select item 116324412.	NM_004628.5(XPC):c.26G>T (p.Gly9Val) GRCh37: Chr3:14220043 GRCh38: Chr3:14178543	XPC	G9V	not provided, Xeroderma pigmentosum, group C	Uncertain significance (May 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99825013.	NM_004628.5(XPC):c.728G>A (p.Arg243Lys) GRCh37: Chr3:14206979 GRCh38: Chr3:14165479	XPC	R237K, R243K, R50K	Xeroderma pigmentosum, group C	Uncertain significance (Apr 17, 2019)	criteria provided, single submitter
Select item 99755114.	NM_004628.5(XPC):c.1946T>C (p.Leu649Pro) GRCh37: Chr3:14197922 GRCh38: Chr3:14156422	XPC	L456P, L567P, L643P, L649P	Xeroderma pigmentosum, group C	Uncertain significance (Mar 19, 2019)	criteria provided, single submitter
Select item 99748115.	NM_004628.5(XPC):c.1133G>A (p.Arg378Lys) GRCh37: Chr3:14200250 GRCh38: Chr3:14158750	XPC	R185K, R372K, R378K	Xeroderma pigmentosum, group C, Inborn genetic diseases, not provided, Xeroderma pigmentosum	Conflicting interpretations of pathogenicity (Dec 5, 2021)	criteria provided, conflicting interpretations
Select item 94404716.	NM_004628.5(XPC):c.1677C>G (p.Tyr559Ter) GRCh37: Chr3:14199706 GRCh38: Chr3:14158206	XPC	Y553, Y559, Y366*	not provided, Xeroderma pigmentosum, group C	Pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91657717.	NM_004628.5(XPC):c.2127del (p.Ser711fs) GRCh37: Chr3:14190437 GRCh38: Chr3:14148937	XPC	S711fs, S629fs, S705fs, S709fs, S518fs	Xeroderma pigmentosum, group C	Pathogenic (Dec 1, 2019)	criteria provided, single submitter
Select item 91657618.	NM_004628.5(XPC):c.395_398del (p.Asp132fs) GRCh37: Chr3:14211952-14211955 GRCh38: Chr3:14170452-14170455	XPC	D126fs, D132fs	Xeroderma pigmentosum, group C	Pathogenic (Dec 1, 2019)	criteria provided, single submitter
Select item 91657519.	NM_004628.5(XPC):c.524_525dup (p.Arg176fs) GRCh37: Chr3:14209767-14209768 GRCh38: Chr3:14168267-14168268	XPC	R176fs, R170fs	Xeroderma pigmentosum, group C	Pathogenic (Dec 1, 2015)	criteria provided, single submitter
Select item 90348920.	NM_004628.4(XPC):c.-82C>G GRCh37: Chr3:14220150 GRCh38: Chr3:14178650	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90348821.	NM_004628.5(XPC):c.17C>G (p.Ala6Gly) GRCh37: Chr3:14220052 GRCh38: Chr3:14178552	XPC	A6G	Xeroderma pigmentosum, group C	Uncertain significance (Oct 9, 2019)	criteria provided, multiple submitters, no conflicts
Select item 90343622.	NM_004628.5(XPC):c.392A>C (p.Asn131Thr) GRCh37: Chr3:14211958 GRCh38: Chr3:14170458	XPC	N125T, N131T	Xeroderma pigmentosum, group C	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90343523.	NM_004628.5(XPC):c.393T>C (p.Asn131=) GRCh37: Chr3:14211957 GRCh38: Chr3:14170457	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90343424.	NM_004628.5(XPC):c.536+11G>T GRCh37: Chr3:14209746 GRCh38: Chr3:14168246	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90338125.	NM_004628.5(XPC):c.1634T>C (p.Val545Ala) GRCh37: Chr3:14199749 GRCh38: Chr3:14158249	XPC	V352A, V545A, V539A	Xeroderma pigmentosum, group C	Uncertain significance (May 17, 2018)	criteria provided, single submitter
Select item 90338026.	NM_004628.5(XPC):c.1781G>A (p.Arg594His) GRCh37: Chr3:14199602 GRCh38: Chr3:14158102	XPC	R594H, R401H, R588H	Xeroderma pigmentosum, Xeroderma pigmentosum, group C	Uncertain significance (May 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90330927.	NM_004628.5(XPC):c.2514+6C>T GRCh37: Chr3:14189402 GRCh38: Chr3:14147902	XPC		not provided, Xeroderma pigmentosum, group C	Uncertain significance (Aug 30, 2018)	criteria provided, multiple submitters, no conflicts
Select item 90330828.	NM_004628.5(XPC):c.2596G>A (p.Gly866Arg) GRCh37: Chr3:14188798 GRCh38: Chr3:14147298	XPC	G860R, G673R, G784R, G866R, G864R	Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90259129.	NM_004628.5(XPC):c.574A>G (p.Arg192Gly) GRCh37: Chr3:14208716 GRCh38: Chr3:14167216	XPC	R192G, R186G	not provided, Xeroderma pigmentosum, group C	Uncertain significance (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90259030.	NM_004628.5(XPC):c.779+11C>T GRCh37: Chr3:14206917 GRCh38: Chr3:14165417	XPC		not provided, Xeroderma pigmentosum, Xeroderma pigmentosum, group C	Conflicting interpretations of pathogenicity (Apr 3, 2022)	criteria provided, conflicting interpretations
Select item 90258931.	NM_004628.5(XPC):c.779+12C>G GRCh37: Chr3:14206916 GRCh38: Chr3:14165416	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90258832.	NM_004628.5(XPC):c.940C>T (p.Arg314Trp) GRCh37: Chr3:14201291 GRCh38: Chr3:14159791	XPC	R121W, R308W, R314W	Xeroderma pigmentosum, group C	Uncertain significance (Mar 31, 2020)	criteria provided, multiple submitters, no conflicts
Select item 90253133.	NM_004628.5(XPC):c.1913T>C (p.Ile638Thr) GRCh37: Chr3:14197955 GRCh38: Chr3:14156455	XPC	I445T, I556T, I638T, I632T	Xeroderma pigmentosum, Xeroderma pigmentosum, group C	Uncertain significance (Jul 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90253034.	NM_004628.5(XPC):c.1942G>T (p.Ala648Ser) GRCh37: Chr3:14197926 GRCh38: Chr3:14156426	XPC	A566S, A455S, A642S, A648S	Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90252935.	NM_004628.5(XPC):c.1947G>A (p.Leu649=) GRCh37: Chr3:14197921 GRCh38: Chr3:14156421	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90252836.	NM_004628.5(XPC):c.2020G>T (p.Ala674Ser) GRCh37: Chr3:14197848 GRCh38: Chr3:14156348	XPC	A674S, A592S, A668S, A481S	Xeroderma pigmentosum, group C	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90244537.	NM_004628.5(XPC):c.*139G>T GRCh37: Chr3:14187302 GRCh38: Chr3:14145802	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 90092638.	NM_004628.5(XPC):c.1022C>T (p.Ala341Val) GRCh37: Chr3:14200361 GRCh38: Chr3:14158861	XPC	A148V, A335V, A341V	Xeroderma pigmentosum, group C, Xeroderma pigmentosum	Uncertain significance (Aug 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90092539.	NM_004628.5(XPC):c.1023G>A (p.Ala341=) GRCh37: Chr3:14200360 GRCh38: Chr3:14158860	XPC		Xeroderma pigmentosum, group C, not provided	Conflicting interpretations of pathogenicity (Jun 28, 2022)	criteria provided, conflicting interpretations
Select item 90092440.	NM_004628.5(XPC):c.1246C>G (p.Arg416Gly) GRCh37: Chr3:14200137 GRCh38: Chr3:14158637	XPC	R223G, R410G, R416G	Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90085241.	NM_004628.5(XPC):c.2137C>T (p.Arg713Cys) GRCh37: Chr3:14190427 GRCh38: Chr3:14148927	XPC	R711C, R520C, R707C, R713C, R631C	Inborn genetic diseases, Xeroderma pigmentosum, group C	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90085142.	NM_004628.5(XPC):c.2174G>A (p.Arg725Gln) GRCh37: Chr3:14190390 GRCh38: Chr3:14148890	XPC	R532Q, R643Q, R723Q, R725Q, R719Q	Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90077943.	NM_004628.5(XPC):c.*611T>C GRCh37: Chr3:14186830 GRCh38: Chr3:14145330	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90077844.	NM_004628.5(XPC):c.*624A>C GRCh37: Chr3:14186817 GRCh38: Chr3:14145317	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Jul 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90077745.	NM_004628.5(XPC):c.*648C>T GRCh37: Chr3:14186793 GRCh38: Chr3:14145293	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90077646.	NM_004628.5(XPC):c.*682A>G GRCh37: Chr3:14186759 GRCh38: Chr3:14145259	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89987647.	NM_004628.4(XPC):c.-84C>T GRCh37: Chr3:14220152 GRCh38: Chr3:14178652	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89982248.	NM_004628.5(XPC):c.105T>A (p.Asp35Glu) GRCh37: Chr3:14214561 GRCh38: Chr3:14173061	XPC	D35E, H29Q	not provided, Xeroderma pigmentosum, group C	Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89976649.	NM_004628.5(XPC):c.1474C>A (p.Arg492Ser) GRCh37: Chr3:14199909 GRCh38: Chr3:14158409	XPC	R486S, R299S, R492S	Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89976550.	NM_004628.5(XPC):c.1531A>C (p.Lys511Gln) GRCh37: Chr3:14199852 GRCh38: Chr3:14158352	XPC	K511Q, K318Q, K505Q	Xeroderma pigmentosum, Xeroderma pigmentosum, group C	Uncertain significance (Apr 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89970551.	NM_004628.5(XPC):c.2251-7G>A GRCh37: Chr3:14190238 GRCh38: Chr3:14148738	XPC		not provided, Xeroderma pigmentosum, group C	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 89970452.	NM_004628.5(XPC):c.2351G>A (p.Arg784His) GRCh37: Chr3:14190131 GRCh38: Chr3:14148631	XPC	R782H, R702H, R778H, R591H, R784H	Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89970353.	NM_004628.5(XPC):c.2412C>T (p.Ser804=) GRCh37: Chr3:14190070 GRCh38: Chr3:14148570	XPC		Xeroderma pigmentosum, group C, not provided	Conflicting interpretations of pathogenicity (Jul 6, 2021)	criteria provided, conflicting interpretations
Select item 89970254.	NM_004628.5(XPC):c.2418C>A (p.Pro806=) GRCh37: Chr3:14190064 GRCh38: Chr3:14148564	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 83622455.	NM_004628.5(XPC):c.2216_2217del (p.Glu739fs) GRCh37: Chr3:14190347-14190348 GRCh38: Chr3:14148847-14148848	XPC	E546fs, E737fs, E739fs, E657fs, E733fs	not provided, Xeroderma pigmentosum, group C	Pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80443356.	NM_004628.5(XPC):c.470_471del (p.Leu157fs) GRCh37: Chr3:14209822-14209823 GRCh38: Chr3:14168322-14168323	XPC	L151fs, L157fs	Xeroderma pigmentosum, group C	Likely pathogenic (Jun 20, 2019)	criteria provided, single submitter
Select item 80193857.	NM_004628.5(XPC):c.90GGA[4] (p.Glu34del) GRCh37: Chr3:14219966-14219968 GRCh38: Chr3:14178466-14178468	XPC	E34del	Xeroderma pigmentosum, Xeroderma pigmentosum, group C, not provided	Conflicting interpretations of pathogenicity (May 7, 2022)	criteria provided, conflicting interpretations
Select item 80193758.	NM_004628.5(XPC):c.706A>G (p.Ile236Val) GRCh37: Chr3:14207001 GRCh38: Chr3:14165501	XPC	I230V, I236V, I43V	Xeroderma pigmentosum, group C	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 79728459.	NM_004628.5(XPC):c.1365C>T (p.Pro455=) GRCh37: Chr3:14200018 GRCh38: Chr3:14158518	XPC		not provided, Xeroderma pigmentosum, group C	Conflicting interpretations of pathogenicity (Jul 20, 2021)	criteria provided, conflicting interpretations
Select item 78503560.	NM_004628.5(XPC):c.1497G>A (p.Ala499=) GRCh37: Chr3:14199886 GRCh38: Chr3:14158386	XPC		Xeroderma pigmentosum, not provided, Xeroderma pigmentosum, group C	Benign/Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76237061.	NM_004628.5(XPC):c.203A>T (p.Asp68Val) GRCh37: Chr3:14214463 GRCh38: Chr3:14172963	XPC	D68V, D62V	not provided, Xeroderma pigmentosum, group C	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 75630562.	NM_004628.5(XPC):c.1509C>T (p.Ser503=) GRCh37: Chr3:14199874 GRCh38: Chr3:14158374	XPC		Xeroderma pigmentosum, Xeroderma pigmentosum, group C, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 73818763.	NM_004628.5(XPC):c.2250+6G>A GRCh37: Chr3:14190308 GRCh38: Chr3:14148808	XPC		not provided, Xeroderma pigmentosum, Xeroderma pigmentosum, group C	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 73107664.	NM_004628.5(XPC):c.2238C>T (p.Ala746=) GRCh37: Chr3:14190326 GRCh38: Chr3:14148826	XPC		not provided, Xeroderma pigmentosum, Xeroderma pigmentosum, group C	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 72148565.	NM_004628.5(XPC):c.102G>A (p.Glu34=) GRCh37: Chr3:14219967 GRCh38: Chr3:14178467	XPC		not provided, Xeroderma pigmentosum, group C	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 72086366.	NM_004628.5(XPC):c.1734C>A (p.Val578=) GRCh37: Chr3:14199649 GRCh38: Chr3:14158149	XPC		not provided, Xeroderma pigmentosum, group C	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71298067.	NM_004628.5(XPC):c.2028C>T (p.Tyr676=) GRCh37: Chr3:14197840 GRCh38: Chr3:14156340	XPC		not specified, Xeroderma pigmentosum, group C, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71268068.	NM_004628.5(XPC):c.2496T>C (p.Ile832=) GRCh37: Chr3:14189426 GRCh38: Chr3:14147926	XPC		not provided, Xeroderma pigmentosum, group C, Xeroderma pigmentosum	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 69569569.	NM_004628.5(XPC):c.303C>T (p.Asp101=) GRCh37: Chr3:14212047 GRCh38: Chr3:14170547	XPC		not provided, Xeroderma pigmentosum, group C	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69567370.	NM_004628.5(XPC):c.2232A>C (p.Pro744=) GRCh37: Chr3:14190332 GRCh38: Chr3:14148832	XPC		not provided, Xeroderma pigmentosum, Xeroderma pigmentosum, group C	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69556171.	NM_004628.5(XPC):c.1362T>C (p.Asp454=) GRCh37: Chr3:14200021 GRCh38: Chr3:14158521	XPC		Xeroderma pigmentosum, group C, not provided	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69556072.	NM_004628.5(XPC):c.2088G>A (p.Val696=) GRCh37: Chr3:14193862 GRCh38: Chr3:14152362	XPC		not provided, Xeroderma pigmentosum, Xeroderma pigmentosum, group C	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 63532973.	NM_004628.5(XPC):c.2126_2129del (p.Gly709fs) GRCh37: Chr3:14190435-14190438 GRCh38: Chr3:14148935-14148938	XPC	G516fs, G627fs, G707fs, G703fs, G709fs	Xeroderma pigmentosum, group C	Pathogenic (May 15, 2019)	criteria provided, single submitter
Select item 56114474.	NM_004628.5(XPC):c.1872+1G>C GRCh37: Chr3:14199510 GRCh38: Chr3:14158010	XPC		Xeroderma pigmentosum, group C, not provided	Pathogenic/Likely pathogenic (Jun 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55867875.	NM_004628.5(XPC):c.1673_1675dup (p.Cys558dup) GRCh37: Chr3:14199707-14199708 GRCh38: Chr3:14158207-14158208	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Jun 4, 2018)	criteria provided, single submitter
Select item 55864676.	NM_004628.5(XPC):c.621+2dup GRCh37: Chr3:14208666-14208667 GRCh38: Chr3:14167166-14167167	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Jun 4, 2018)	criteria provided, single submitter
Select item 55864177.	NM_004628.5(XPC):c.618_619del (p.His206fs) GRCh37: Chr3:14208671-14208672 GRCh38: Chr3:14167171-14167172	XPC	H200fs, H206fs, H13fs	Xeroderma pigmentosum, group C	Likely pathogenic (Jun 4, 2018)	criteria provided, single submitter
Select item 55862978.	NM_004628.5(XPC):c.2724AGA[1] (p.Glu909del) GRCh37: Chr3:14187535-14187537 GRCh38: Chr3:14146035-14146037	XPC	E909del, E716del, E907del, E903del, E827del	Xeroderma pigmentosum, group C	Uncertain significance (Jun 5, 2018)	criteria provided, single submitter
Select item 55852279.	NM_004628.5(XPC):c.1686del (p.Thr563fs) GRCh37: Chr3:14199697 GRCh38: Chr3:14158197	XPC	T370fs, T557fs, T563fs	Xeroderma pigmentosum, group C	Likely pathogenic (May 24, 2018)	criteria provided, single submitter
Select item 55846680.	NM_004628.5(XPC):c.2215GAG[1] (p.Glu740del) GRCh37: Chr3:14190344-14190346 GRCh38: Chr3:14148844-14148846	XPC	E740del, E734del, E738del, E547del, E658del	Xeroderma pigmentosum, group C	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter
Select item 55824381.	NM_004628.5(XPC):c.2251-2A>G GRCh37: Chr3:14190233 GRCh38: Chr3:14148733	XPC		Xeroderma pigmentosum, group C	Likely pathogenic (May 8, 2018)	criteria provided, single submitter
Select item 55824182.	NM_004628.5(XPC):c.1289_1293del (p.Ser429_Tyr430insTer) GRCh37: Chr3:14200090-14200094 GRCh38: Chr3:14158590-14158594	XPC		not provided, Xeroderma pigmentosum, group C	Pathogenic/Likely pathogenic (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55817983.	NM_004628.5(XPC):c.2033+1G>A GRCh37: Chr3:14197834 GRCh38: Chr3:14156334	XPC		not provided, Xeroderma pigmentosum, Xeroderma pigmentosum, group C	Likely pathogenic (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55814184.	NM_004628.5(XPC):c.2287del (p.Leu763fs) GRCh37: Chr3:14190195 GRCh38: Chr3:14148695	XPC	L681fs, L757fs, L570fs, L761fs, L763fs	not provided, Xeroderma pigmentosum, group C	Pathogenic (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55763785.	NM_004628.5(XPC):c.2782A>T (p.Lys928Ter) GRCh37: Chr3:14187482 GRCh38: Chr3:14145982	XPC	K928, K926, K922, K735, K846*	Xeroderma pigmentosum, group C	Uncertain significance (Apr 3, 2018)	criteria provided, single submitter
Select item 55758086.	NM_004628.5(XPC):c.537-1G>C GRCh37: Chr3:14208754 GRCh38: Chr3:14167254	XPC		not provided, Xeroderma pigmentosum, group C	Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55741187.	NM_004628.5(XPC):c.351_352insGTA (p.Thr117_Met118insVal) GRCh37: Chr3:14211998-14211999 GRCh38: Chr3:14170498-14170499	XPC		Xeroderma pigmentosum, group C	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 55729788.	NM_004628.5(XPC):c.2101G>T (p.Glu701Ter) GRCh37: Chr3:14193849 GRCh38: Chr3:14152349	XPC	E701, E699, E619, E508, E695*	Xeroderma pigmentosum, group C	Likely pathogenic (Mar 21, 2018)	criteria provided, single submitter
Select item 55726889.	NM_004628.5(XPC):c.409dup (p.Glu137fs) GRCh37: Chr3:14211940-14211941 GRCh38: Chr3:14170440-14170441	XPC	E131fs, E137fs	Xeroderma pigmentosum, group C	Likely pathogenic (Mar 19, 2018)	criteria provided, single submitter
Select item 55726790.	NM_004628.5(XPC):c.2194dup (p.Leu732fs) GRCh37: Chr3:14190369-14190370 GRCh38: Chr3:14148869-14148870	XPC	L539fs, L732fs, L650fs, L730fs, L726fs	Xeroderma pigmentosum, group C, not provided	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 55714091.	NM_004628.5(XPC):c.2218G>T (p.Glu740Ter) GRCh37: Chr3:14190346 GRCh38: Chr3:14148846	XPC	E740, E547, E734, E658, E738*	Xeroderma pigmentosum, group C, not provided	Pathogenic/Likely pathogenic (Sep 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55706592.	NM_004628.5(XPC):c.445_446del (p.Glu149fs) GRCh37: Chr3:14209847-14209848 GRCh38: Chr3:14168347-14168348	XPC	E143fs, E149fs	Xeroderma pigmentosum, group C	Pathogenic (Mar 7, 2018)	criteria provided, single submitter
Select item 55691393.	NM_004628.5(XPC):c.1293_1294insT (p.Glu432Ter) GRCh37: Chr3:14200089-14200090 GRCh38: Chr3:14158589-14158590	XPC	E426, E432, E239*	Xeroderma pigmentosum, group C	Likely pathogenic (Feb 27, 2018)	criteria provided, single submitter
Select item 55688394.	NM_004628.5(XPC):c.2703del (p.Ala902fs) GRCh37: Chr3:14187561 GRCh38: Chr3:14146061	XPC	A709fs, A820fs, A900fs, A896fs, A902fs	Xeroderma pigmentosum, group C	Uncertain significance (Feb 28, 2018)	criteria provided, single submitter
Select item 55682095.	NM_004628.5(XPC):c.1328_1329del (p.Gly442_Ser443insTer) GRCh37: Chr3:14200054-14200055 GRCh38: Chr3:14158554-14158555	XPC		Xeroderma pigmentosum, group C	Likely pathogenic (Feb 21, 2018)	criteria provided, single submitter
Select item 55630196.	NM_004628.5(XPC):c.739C>T (p.Arg247Ter) GRCh37: Chr3:14206968 GRCh38: Chr3:14165468	XPC	R247, R54, R241*	not provided, Xeroderma pigmentosum, group C	Pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55583297.	NM_004628.5(XPC):c.2331dup (p.Asn778fs) GRCh37: Chr3:14190150-14190151 GRCh38: Chr3:14148650-14148651	XPC	N776fs, N585fs, N772fs, N696fs, N778fs	Xeroderma pigmentosum, group C, not provided	Pathogenic/Likely pathogenic (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55558398.	NM_004628.5(XPC):c.779+1G>A GRCh37: Chr3:14206927 GRCh38: Chr3:14165427	XPC		Xeroderma pigmentosum, group C	Likely pathogenic (Dec 15, 2017)	criteria provided, single submitter
Select item 55548199.	NM_004628.5(XPC):c.1934del (p.Pro645fs) GRCh37: Chr3:14197934 GRCh38: Chr3:14156434	XPC	P645fs, P563fs, P639fs, P452fs	Xeroderma pigmentosum, group C	Likely pathogenic (Dec 8, 2017)	criteria provided, single submitter
Select item 555393100.	NM_004628.5(XPC):c.1421dup (p.Arg475fs) GRCh37: Chr3:14199961-14199962 GRCh38: Chr3:14158461-14158462	XPC	R282fs, R469fs, R475fs	not provided, Xeroderma pigmentosum, group C	Pathogenic/Likely pathogenic (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts

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