Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004628.5(XPC):c.2033+2T>G	SNV Germline	Chr3:14156333	Pathogenic	Xeroderma pigmentosum, group C	No Assertion Criteria Provided	CA251392	rs_794729655	1 SubmittersRCV000000281
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter)	SNV Germline	Chr3:14158148	Pathogenic	Xeroderma pigmentosum, group C Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251394	rs_121965088	8 SubmittersRCV000000283 RCV001260295 RCV001851508
NM_004628.5(XPC):c.413-9T>A	SNV Germline	Chr3:14168389	Pathogenic	Xeroderma pigmentosum, group C	No Assertion Criteria Provided	CA251397	rs_794729656	1 SubmittersRCV000000284
NM_004628.5(XPC):c.413-24A>G	SNV Germline	Chr3:14168404	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251398	rs_794729657	3 SubmittersRCV000000285 RCV002292452
NM_000380.4(XPA):c.323G>T (p.Cys108Phe)	SNV Germline	Chr9:97689600	Likely pathogenic	Xeroderma pigmentosum group A Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA251648	rs_104894131	4 SubmittersRCV000001048 RCV005055500
NM_000380.4(XPA):c.682C>T (p.Arg228Ter)	SNV Germline	Chr9:97675579	Pathogenic	Xeroderma pigmentosum group A Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251650	rs_104894132	8 SubmittersRCV000001050 RCV000781924 RCV000815514
NM_000380.4(XPA):c.619C>T (p.Arg207Ter)	SNV Germline	Chr9:97684977	Pathogenic	Xeroderma pigmentosum group A Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA251653	rs_104894133	11 SubmittersRCV000001051 RCV000657642 RCV001420782
NM_000380.4(XPA):c.348T>A (p.Tyr116Ter)	SNV Germline	Chr9:97689575	Pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter	CA251656	rs_104894134	2 SubmittersRCV000001052
NM_000380.4(XPA):c.172+2T>G	SNV Germline	Chr9:97697119	Pathogenic	Xeroderma pigmentosum group A	No Assertion Criteria Provided	CA374188335	rs_1587755557	1 SubmittersRCV000001053
NM_006502.3(POLH):c.916G>T (p.Glu306Ter)	SNV Germline	Chr6:43604646	Pathogenic	Xeroderma pigmentosum variant type	No Assertion Criteria Provided	CA253638	rs_121908562	2 SubmittersRCV000006245
NM_006502.3(POLH):c.376C>T (p.Gln126Ter)	SNV Germline	Chr6:43587375	Pathogenic	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Single Submitter	CA253641	rs_121908563	2 SubmittersRCV000006247 RCV003555934
NM_006502.3(POLH):c.1117C>T (p.Gln373Ter)	SNV Germline	Chr6:43610596	Pathogenic	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Single Submitter	CA253644	rs_121908564	2 SubmittersRCV000006248 RCV003555935
NM_000107.3(DDB2):c.730A>G (p.Lys244Glu)	SNV Germline	Chr11:47234784	Pathogenic	Xeroderma pigmentosum, group E	No Assertion Criteria Provided	CA254554	rs_121434639	1 SubmittersRCV000009332
NM_000107.3(DDB2):c.818G>A (p.Arg273His)	SNV Germline	Chr11:47234872	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group E Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254556	rs_121434640	3 SubmittersRCV000009333 RCV003555986
NM_000107.3(DDB2):c.937C>T (p.Arg313Ter)	SNV Germline	Chr11:47235326	Pathogenic	Xeroderma pigmentosum, group E	Criteria Provided Single Submitter	CA254558	rs_121434641	2 SubmittersRCV000009334
NM_000107.3(DDB2):c.919G>T (p.Asp307Tyr)	SNV Germline	Chr11:47235308	Pathogenic	Xeroderma pigmentosum, group E	No Assertion Criteria Provided	CA254561	rs_121434642	1 SubmittersRCV000009335
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter)	SNV Germline	Chr13:102872397	Pathogenic	Xeroderma pigmentosum, group G Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257525	rs_121434570	3 SubmittersRCV000018034 RCV000587956 RCV003556039
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val)	SNV Germline	Chr13:102866687	Likely pathogenic	Xeroderma pigmentosum, group G Cerebrooculofacioskeletal syndrome 3 Xeroderma pigmentosum, group G Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA257528	rs_121434571	3 SubmittersRCV000018035 RCV005007865 RCV005417434
NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter)	SNV Germline	Chr13:102861621	Pathogenic	Xeroderma pigmentosum group G/Cockayne syndrome	No Assertion Criteria Provided	CA126677	rs_121434572	1 SubmittersRCV000018038
NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter)	SNV Germline	Chr13:102856110	Pathogenic	Xeroderma pigmentosum group G/Cockayne syndrome	No Assertion Criteria Provided	CA126680	rs_121434573	1 SubmittersRCV000018039
NM_000123.4(ERCC5):c.215C>A (p.Pro72His)	SNV Germline	Chr13:102852244	Pathogenic	Xeroderma pigmentosum group G/Cockayne syndrome	No Assertion Criteria Provided	CA126683	rs_121434574	1 SubmittersRCV000018040
NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro)	SNV Germline	Chr13:102868152	Pathogenic	Xeroderma pigmentosum, group G	No Assertion Criteria Provided	CA257531	rs_121434575	1 SubmittersRCV000018041
NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter)	SNV Germline	Chr13:102854313	Pathogenic	Xeroderma pigmentosum, group G	No Assertion Criteria Provided	CA257540	rs_121434577	1 SubmittersRCV000018046
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	SNV Germline	Chr16:13947991	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F not specified Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome XFE progeroid syndrome Condition: not provided Breast carcinoma Hutchinson-Gilford syndrome Carcinoma of pancreas Fanconi anemia complementation group Q ERCC4-related disorder Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA126686	rs_121913049	24 SubmittersRCV000018048 RCV000120808 RCV000467658 RCV000766208 RCV000415873 RCV001262417 RCV001034542 RCV001391196 RCV001787804 RCV003924841 RCV000768209 RCV002257360
NM_000122.2(ERCC3):c.2218-6C>A	SNV Germline	Chr2:127257733	Pathogenic	Xeroderma pigmentosum group B	No Assertion Criteria Provided	CA535645771	rs_200733704	1 SubmittersRCV000018050
NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser)	SNV Germline	Chr2:127292785	Pathogenic	Xeroderma pigmentosum group B Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Single Submitter	CA257543	rs_121913045	2 SubmittersRCV000018051 RCV005025066
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)	SNV Germline	Chr2:127286772	Pathogenic	Condition: not provided Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA257545	rs_121913047	6 SubmittersRCV001851900 RCV004541009 RCV000018053 RCV005025067 RCV002513092
NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter)	SNV Germline	Chr2:127279270	Pathogenic	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Single Submitter	CA257548	rs_121913048	2 SubmittersRCV000018056 RCV005089269
NM_000122.2(ERCC3):c.471+1G>A	SNV Germline	Chr2:127292609	Pathogenic	Xeroderma pigmentosum group B Xeroderma pigmentosum	Criteria Provided Single Submitter	CA348391447	rs_1558964705	2 SubmittersRCV000018057 RCV003226162
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)	SNV Germline	Chr19:45357368	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D not specified Trichothiodystrophy 1, photosensitive Condition: not provided Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158746	rs_121913016	12 SubmittersRCV000018267 RCV000120764 RCV000171546 RCV000897210 RCV002256001 RCV002513097
NM_000400.4(ERCC2):c.2176C>T (p.Gln726Ter)	SNV Germline	Chr19:45352223	Pathogenic	Xeroderma pigmentosum, group D	No Assertion Criteria Provided	CA257623	rs_121913017	1 SubmittersRCV000018269
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)	SNV Germline	Chr19:45352226	Pathogenic/Likely pathogenic	Trichothiodystrophy 1, photosensitive Condition: not provided Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum Inborn genetic diseases Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA126881	rs_121913018	7 SubmittersRCV000018270 RCV001851906 RCV002490383 RCV003155035 RCV003343601 RCV003460482
NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg)	SNV Germline	Chr19:45354774	Pathogenic	Xeroderma pigmentosum, group D	No Assertion Criteria Provided	CA257626	rs_121913019	1 SubmittersRCV000018272
NM_000400.4(ERCC2):c.335G>A (p.Arg112His)	SNV Germline	Chr19:45368655	Pathogenic	Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA126883	rs_121913020	6 SubmittersRCV000018274 RCV000018273 RCV000424822 RCV003466865
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)	SNV Germline	Chr19:45352580	Pathogenic/Likely pathogenic	Trichothiodystrophy 1, photosensitive Condition: not provided Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Ovarian cancer Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA126885	rs_121913021	7 SubmittersRCV000018275 RCV002513098 RCV002482884 RCV003153304 RCV003460483
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)	SNV Germline	Chr19:45352802	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Condition: not provided Xeroderma pigmentosum, group D Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA126891	rs_121913024	7 SubmittersRCV000171547 RCV001582486 RCV000018278 RCV005016278 RCV002468972
NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro)	SNV Germline	Chr19:45357295	Pathogenic	Xeroderma pigmentosum, group D	No Assertion Criteria Provided	CA257628	rs_121913025	1 SubmittersRCV000018282
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	SNV Germline	Chr19:45352235	Pathogenic	Trichothiodystrophy 1, photosensitive Condition: not provided Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy Hypotrichosis simplex ERCC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA126893	rs_121913026	16 SubmittersRCV000018283 RCV000255624 RCV000677676 RCV000763052 RCV001199920 RCV001449816 RCV004532382
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)	SNV Germline	Chr19:45352352	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group D Inborn genetic diseases Condition: not provided Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA257630	rs_41556519	8 SubmittersRCV000018284 RCV000623275 RCV000518900 RCV000763053 RCV003460484
NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp)	SNV Germline	Chr13:102846349	Pathogenic	Xeroderma pigmentosum, group G	No Assertion Criteria Provided	CA261269	rs_267607281	1 SubmittersRCV000034376
NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys)	SNV Germline	Chr13:102873283	Pathogenic	Xeroderma pigmentosum, group G	No Assertion Criteria Provided	CA261272	rs_267607280	1 SubmittersRCV000034377
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)	SNV Germline	Chr16:13947661	Likely pathogenic	Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Condition: not provided ERCC4-Related Disorders	Criteria Provided Multiple Submitters No Conflicts	CA143933	rs_149364215	5 SubmittersRCV000049245 RCV001067959 RCV005016345 RCV003144119 RCV004700343
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg)	SNV Germline	Chr16:13928149	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, type F/Cockayne syndrome Condition: not provided Xeroderma pigmentosum, group F	Criteria Provided Multiple Submitters No Conflicts	CA143938	rs_397509403	3 SubmittersRCV000049248 RCV001568088 RCV004814985
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)	SNV Germline	Chr16:13935697	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, type F/Cockayne syndrome Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum ERCC4-related disorder Autosomal recessive cerebellar ataxia	Criteria Provided Multiple Submitters No Conflicts	CA143941	rs_147105770	7 SubmittersRCV000049250 RCV000700109 RCV000762956 RCV002222373 RCV003415812 RCV005429220
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr)	SNV Germline	Chr11:47238177	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum Xeroderma pigmentosum, group E DDB2-related disorder	Criteria Provided Conflicting Classifications	CA158255	rs_143049891	9 SubmittersRCV000120630 RCV000861341 RCV002257417 RCV001102816 RCV003935146
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys)	SNV Germline	Chr19:45370191	Conflicting classifications of pathogenicity	not specified Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Condition: not provided Ovarian cancer Xeroderma pigmentosum, group D Xeroderma pigmentosum ERCC2-related disorder	Criteria Provided Conflicting Classifications	CA158761	rs_147972150	8 SubmittersRCV000120770 RCV001292799 RCV001329858 RCV000893772 RCV003153388 RCV001136196 RCV002258797 RCV004542872
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val)	SNV Germline	Chr19:45352648	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group D Xeroderma pigmentosum ERCC2-related disorder Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Conflicting Classifications	CA158767	rs_34517175	7 SubmittersRCV000120772 RCV000860939 RCV001129001 RCV002257422 RCV004542873 RCV005400425
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	SNV Germline	Chr19:45352249	Pathogenic/Likely pathogenic	not specified Condition: not provided ERCC2-related disorder Trichothiodystrophy 1, photosensitive Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified Xeroderma pigmentosum, group D Inborn genetic diseases Xeroderma pigmentosum Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA158773	rs_144564120	15 SubmittersRCV000120774 RCV000255243 RCV000778547 RCV001329855 RCV000761018 RCV000990227 RCV002515854 RCV003114266 RCV005025191
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val)	SNV Germline	Chr19:45364887	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group D Hepatoblastoma Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA158809	rs_142936491	6 SubmittersRCV000120786 RCV000358437 RCV001843479 RCV000896557 RCV002256053
NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys)	SNV Germline	Chr2:127261332	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum ERCC3-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158821	rs_568193912	6 SubmittersRCV000120790 RCV001462857 RCV002258798 RCV003915201 RCV005328213
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys)	SNV Germline	Chr2:127288840	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B Inborn genetic diseases Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA248735	rs_145201970	13 SubmittersRCV000120800 RCV000765502 RCV001294157 RCV001129472 RCV004019680 RCV001362006 RCV002257425
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)	SNV Germline	Chr16:13948141	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Inborn genetic diseases Ovarian cancer Xeroderma pigmentosum, group F Xeroderma pigmentosum Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158873	rs_374186605	7 SubmittersRCV000120810 RCV000535348 RCV002515858 RCV003153389 RCV003315749 RCV002257428 RCV002470769
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)	SNV Germline	Chr16:13948175	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Inborn genetic diseases Condition: not provided Hereditary cancer-predisposing syndrome Xeroderma pigmentosum Hutchinson-Gilford syndrome	Criteria Provided Conflicting Classifications	CA158876	rs_4986933	11 SubmittersRCV000120811 RCV000476568 RCV000989535 RCV002515859 RCV004704960 RCV005251066 RCV002257429 RCV001034545
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)	SNV Germline	Chr16:13948330	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Condition: not provided Xeroderma pigmentosum, group F	Criteria Provided Conflicting Classifications	CA158885	rs_150077735	5 SubmittersRCV000120814 RCV000474309 RCV001356061 RCV003315750
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)	SNV Germline	Chr16:13947713	Conflicting classifications of pathogenicity	not specified XFE progeroid syndrome ERCC4-related disorder Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Hereditary cancer-predisposing syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158888	rs_1800069	13 SubmittersRCV000120815 RCV001332584 RCV003915202 RCV001121237 RCV000463526 RCV005251067 RCV001788036 RCV002257430 RCV001354835 RCV002515860
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)	SNV Germline	Chr16:13922034	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Condition: not provided	Criteria Provided Conflicting Classifications	CA158897	rs_145315496	5 SubmittersRCV000120818 RCV001209805 RCV001543122 RCV000728799
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)	SNV Germline	Chr16:13934224	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Hereditary cancer-predisposing syndrome Xeroderma pigmentosum ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA158906	rs_1799802	12 SubmittersRCV000120821 RCV000224511 RCV001116216 RCV003224157 RCV001083882 RCV005251068 RCV002257432 RCV003925183
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)	SNV Germline	Chr16:13935420	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Xeroderma pigmentosum Condition: not provided Hutchinson-Gilford syndrome Inborn genetic diseases Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA158912	rs_146601373	10 SubmittersRCV000120823 RCV000459235 RCV001117661 RCV002258800 RCV004704961 RCV001034544 RCV002515862 RCV005251069
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)	SNV Germline	Chr16:13935347	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Condition: not provided Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158918	rs_572439259	5 SubmittersRCV000120825 RCV005394415 RCV005229925 RCV000651482 RCV001294104
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)	SNV Germline	Chr16:13935495	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q Condition: not provided ERCC4-related disorder Hereditary cancer-predisposing syndrome Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA158921	rs_41552412	13 SubmittersRCV000120826 RCV000343662 RCV000546465 RCV000764023 RCV001292825 RCV001355143 RCV003975071 RCV005251070 RCV002258801
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)	SNV Germline	Chr16:13935538	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158933	rs_143347563	4 SubmittersRCV000120830 RCV000989533 RCV001854624 RCV004786378
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)	SNV Germline	Chr16:13935659	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Condition: not provided Xeroderma pigmentosum Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q Inborn genetic diseases Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA158936	rs_1800068	14 SubmittersRCV000120831 RCV000651477 RCV001119237 RCV001357601 RCV002257433 RCV002055332 RCV001294105 RCV002515863 RCV005251071
NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu)	SNV Germline	Chr13:102846322	Conflicting classifications of pathogenicity	not specified Cerebrooculofacioskeletal syndrome 3 Condition: not provided Xeroderma pigmentosum, group G Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158939	rs_34291397	9 SubmittersRCV000120832 RCV001293875 RCV000995079 RCV001109705 RCV002517588
NM_000123.4(ERCC5):c.2890C>T (p.Arg964Trp)	SNV Germline	Chr13:102873269	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group G Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA158962	rs_574826021	5 SubmittersRCV000120838 RCV000356768 RCV000912403 RCV002256055
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val)	SNV Germline	Chr13:102875698	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group G Hereditary cancer-predisposing syndrome ERCC5-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA158978	rs_2227871	8 SubmittersRCV000120842 RCV001112637 RCV002256057 RCV003925184 RCV000861420
NM_000123.4(ERCC5):c.2995T>G (p.Leu999Val)	SNV Germline	Chr13:102875337	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group G Ovarian cancer Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA159002	rs_368550097	5 SubmittersRCV000120848 RCV000312757 RCV003153390 RCV000980003 RCV002255297
NM_000123.4(ERCC5):c.592C>A (p.Pro198Thr)	SNV Germline	Chr13:102858338	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group G Condition: not provided	Criteria Provided Conflicting Classifications	CA159018	rs_141369732	4 SubmittersRCV000120852 RCV001112453 RCV000903966
NM_000123.4(ERCC5):c.1259G>A (p.Arg420His)	SNV Germline	Chr13:102862408	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Xeroderma pigmentosum, group G	Criteria Provided Conflicting Classifications	CA159073	rs_143667470	6 SubmittersRCV000120866 RCV002256060 RCV000897102 RCV001109781
NM_000380.4(XPA):c.571C>G (p.Leu191Val)	SNV Germline	Chr9:97685025	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum group A	Criteria Provided Conflicting Classifications	CA162832	rs_562768588	5 SubmittersRCV000122316 RCV000930543 RCV000665704
NM_004628.5(XPC):c.872C>G (p.Ser291Cys)	SNV Germline	Chr3:14164841	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Conflicting Classifications	CA162901	rs_184879571	3 SubmittersRCV000122339 RCV000318203 RCV000898282
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp)	SNV Germline	Chr3:14158706	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group C Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA162910	rs_121965090	11 SubmittersRCV000122342 RCV000998003 RCV001146474 RCV002257448
NM_004628.5(XPC):c.1780C>T (p.Arg594Cys)	SNV Germline	Chr3:14158103	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group C Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA162916	rs_183238369	7 SubmittersRCV000122344 RCV001150642 RCV002257449 RCV000861309
NM_000400.4(ERCC2):c.1119-5G>A	SNV Germline	Chr19:45361647	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases ERCC2-related disorder Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA162980	rs_369538318	5 SubmittersRCV000122383 RCV000913781 RCV002514657 RCV004530044 RCV002256081
NM_005236.3(ERCC4):c.2017+1G>A	SNV Germline	Chr16:13944836	Likely pathogenic	not specified Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q	Criteria Provided Single Submitter	CA162991	rs_587777943	2 SubmittersRCV000122394 RCV005016423
NM_004628.5(XPC):c.2251-1G>C	SNV Germline	Chr3:14148732	Pathogenic	Xeroderma pigmentosum, group C Xeroderma pigmentosum XPC-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274757	rs_754673606	15 SubmittersRCV000170434 RCV000590804 RCV003954993 RCV001071689
NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter)	SNV Germline	Chr3:14158206	Pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter	CA274754	rs_767569346	2 SubmittersRCV000170432
NM_004628.5(XPC):c.622-2A>C	SNV Germline	Chr3:14165587	Pathogenic	Xeroderma pigmentosum, group C Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274753	rs_201940931	5 SubmittersRCV000170430 RCV001174681 RCV001205980
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter)	SNV Germline	Chr13:102875580	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group G not specified Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA275994	rs_9514067	4 SubmittersRCV000190581 RCV002247614 RCV004017474
NM_005236.3(ERCC4):c.974-6T>C	SNV Germline	Chr16:13932151	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F not specified Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F Condition: not provided Xeroderma pigmentosum Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA249006	rs_201181735	10 SubmittersRCV000353369 RCV000202807 RCV000964431 RCV003417735 RCV002257501 RCV005251092
NM_004628.5(XPC):c.2034-1G>A	SNV Germline	Chr3:14152417	Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter	CA353867	rs_869025275	1 SubmittersRCV000207299
NM_006502.3(POLH):c.764+1G>A	SNV Germline	Chr6:43601092	Pathogenic/Likely pathogenic	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA204515	rs_772570523	4 SubmittersRCV000208975 RCV003556267
NM_006502.3(POLH):c.907C>T (p.Arg303Ter)	SNV Germline	Chr6:43604637	Pathogenic	Xeroderma pigmentosum variant type Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA205006	rs_759607901	3 SubmittersRCV000209179 RCV003556268 RCV005055738
NM_006502.3(POLH):c.490G>T (p.Glu164Ter)	SNV Germline	Chr6:43587489	Pathogenic/Likely pathogenic	Xeroderma pigmentosum variant type Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3826982	rs_767433001	5 SubmittersRCV000251879 RCV001195542 RCV003556274
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly)	SNV Germline	Chr16:13926675	Conflicting classifications of pathogenicity	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q ERCC4-related disorder XFE progeroid syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Conflicting Classifications	CA7910211	rs_2020961	4 SubmittersRCV000226103 RCV001294109 RCV003929973 RCV005016640
NM_006502.3(POLH):c.725C>G (p.Ser242Ter)	SNV Germline	Chr6:43601052	Pathogenic	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Single Submitter	CA3827063	rs_745778317	2 SubmittersRCV000243669 RCV003556302
NM_000380.4(XPA):c.390-1G>C	SNV Germline	Chr9:97687262	Pathogenic	Xeroderma pigmentosum group A Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA5148823	rs_750218942	9 SubmittersRCV000246304 RCV001063951 RCV001255518
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	SNV Germline	Chr19:45352351	Pathogenic	Xeroderma pigmentosum, group D Condition: not provided Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Inflammatory bowel disease 1 Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA10587999	rs_758439420	7 SubmittersRCV000248679 RCV000812198 RCV002487166 RCV004813082 RCV003463714
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	SNV Germline	Chr2:127292756	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B ERCC3-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA090899	rs_34295337	15 SubmittersRCV000255849 RCV001175535 RCV000986812 RCV002487171 RCV004757184 RCV005251109
NM_004628.5(XPC):c.1894C>T (p.Gln632Ter)	SNV Germline	Chr3:14156474	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2267331	rs_3731139	2 SubmittersRCV001172308 RCV003660775
NM_000380.4(XPA):c.553C>T (p.Gln185Ter)	SNV Germline	Chr9:97687098	Pathogenic	Xeroderma pigmentosum group A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA374187268	rs_1828741490	3 SubmittersRCV001172311 RCV001386670
NM_000122.2(ERCC3):c.2112G>A (p.Ser704=)	SNV Germline	Chr2:127259401	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA1858080	rs_114710997	4 SubmittersRCV000402887 RCV000963605 RCV002255366
NM_000122.2(ERCC3):c.618C>T (p.Ala206=)	SNV Germline	Chr2:127289728	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Conflicting Classifications	CA1858497	rs_145830873	6 SubmittersRCV000330405 RCV000896796
NM_000122.2(ERCC3):c.28+8G>A	SNV Germline	Chr2:127294046	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Conflicting Classifications	CA10610734	rs_886054844	2 SubmittersRCV000405663 RCV002521285
NM_000122.2(ERCC3):c.1929G>T (p.Val643=)	SNV Germline	Chr2:127271352	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Conflicting Classifications	CA1858145	rs_375556869	2 SubmittersRCV000305009 RCV000908742
NM_000122.2(ERCC3):c.1371C>T (p.Ile457=)	SNV Germline	Chr2:127280603	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA1858278	rs_769083884	3 SubmittersRCV000303849 RCV002255367 RCV002523083
NM_000122.2(ERCC3):c.657+15G>A	SNV Germline	Chr2:127289674	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Conflicting Classifications	CA1858482	rs_781533251	2 SubmittersRCV000294077 RCV002521283
NM_000122.2(ERCC3):c.279C>T (p.Tyr93=)	SNV Germline	Chr2:127292802	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA1858572	rs_146938627	2 SubmittersRCV000407654 RCV002057569
NM_000122.2(ERCC3):c.2106G>A (p.Ala702=)	SNV Germline	Chr2:127259407	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA1858081	rs_114508982	4 SubmittersRCV000301311 RCV002256207 RCV002057567
NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr)	SNV Germline	Chr2:127259433	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided Xeroderma pigmentosum Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Conflicting Classifications	CA1858090	rs_151216904	8 SubmittersRCV000404854 RCV001366056 RCV002256208 RCV005018692
NM_000122.2(ERCC3):c.1731-11T>C	SNV Germline	Chr2:127272972	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Conflicting Classifications	CA1858192	rs_746754189	2 SubmittersRCV000362103 RCV002057568
NM_000122.2(ERCC3):c.1155C>T (p.Asp385=)	SNV Germline	Chr2:127286890	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA1858342	rs_371396764	4 SubmittersRCV000263793 RCV000908712 RCV002255368
NM_000122.2(ERCC3):c.1026C>T (p.Cys342=)	SNV Germline	Chr2:127288661	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA1858385	rs_752026166	3 SubmittersRCV000334035 RCV002521282 RCV002257645
NM_000122.2(ERCC3):c.822+14C>T	SNV Germline	Chr2:127289323	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Conflicting Classifications	CA1858438	rs_200833462	2 SubmittersRCV000388395 RCV001464767
NM_004628.5(XPC):c.413-4A>G	SNV Germline	Chr3:14168384	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA2267712	rs_367977379	3 SubmittersRCV000335770 RCV000905236 RCV002258881
NM_004628.5(XPC):c.1616A>G (p.Glu539Gly)	SNV Germline	Chr3:14158267	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA2267401	rs_563236303	5 SubmittersRCV000365299 RCV000940955 RCV002257651
NM_004628.5(XPC):c.1131C>T (p.Cys377=)	SNV Germline	Chr3:14158752	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Conflicting Classifications	CA2267503	rs_187340581	3 SubmittersRCV000284141 RCV001481011
NM_006502.3(POLH):c.2024C>A (p.Ser675Tyr)	SNV Germline	Chr6:43614439	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided Xeroderma pigmentosum POLH-related disorder	Criteria Provided Conflicting Classifications	CA3827348	rs_151095678	4 SubmittersRCV000299804 RCV000911755 RCV002258882 RCV003912527
NM_006502.3(POLH):c.491-4T>G	SNV Germline	Chr6:43597692	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Conflicting Classifications	CA3826998	rs_185508862	3 SubmittersRCV000354571 RCV000998609
NM_006502.3(POLH):c.698A>G (p.Asn233Ser)	SNV Germline	Chr6:43601025	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Conflicting Classifications	CA3827058	rs_61756403	4 SubmittersRCV000319612 RCV000959617
NM_006502.3(POLH):c.1266T>C (p.Leu422=)	SNV Germline	Chr6:43613681	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA3827223	rs_758340317	2 SubmittersRCV000380775 RCV003669141
NM_006502.3(POLH):c.738C>T (p.Leu246=)	SNV Germline	Chr6:43601065	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA3827066	rs_145530456	3 SubmittersRCV000355710 RCV002524483 RCV002257656
NM_006502.3(POLH):c.1074+7T>G	SNV Germline	Chr6:43605326	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Conflicting Classifications	CA3827170	rs_765856970	2 SubmittersRCV000294499 RCV003766053
NM_000380.4(XPA):c.390-13A>C	SNV Germline	Chr9:97687274	Conflicting classifications of pathogenicity	Xeroderma pigmentosum XPA-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5148825	rs_373762653	4 SubmittersRCV000321214 RCV003957859 RCV002524578
NM_000380.4(XPA):c.731A>G (p.His244Arg)	SNV Germline	Chr9:97675530	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group A Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA5148691	rs_144725456	5 SubmittersRCV000668335 RCV003237833 RCV005418100
NM_000107.3(DDB2):c.702+12G>A	SNV Germline	Chr11:47234684	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group E Condition: not provided	Criteria Provided Conflicting Classifications	CA5972594	rs_55847708	2 SubmittersRCV000359705 RCV002056207
NM_000107.3(DDB2):c.984G>A (p.Pro328=)	SNV Germline	Chr11:47235373	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group E Condition: not provided	Criteria Provided Conflicting Classifications	CA5972674	rs_138255134	2 SubmittersRCV000289960 RCV003391077
NM_000123.4(ERCC5):c.1917A>G (p.Glu639=)	SNV Germline	Chr13:102863066	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group G Condition: not provided	Criteria Provided Conflicting Classifications	CA7041479	rs_765554006	2 SubmittersRCV000263844 RCV000911965
NM_000123.4(ERCC5):c.3003A>G (p.Gln1001=)	SNV Germline	Chr13:102875345	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group G Condition: not provided	Criteria Provided Conflicting Classifications	CA10633798	rs_886049942	2 SubmittersRCV000367389 RCV000924684
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val)	SNV Germline	Chr13:102875770	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group G Condition: not provided	Criteria Provided Conflicting Classifications	CA7041894	rs_376411022	3 SubmittersRCV000989162 RCV003319347
NM_005236.3(ERCC4):c.105C>T (p.Cys35=)	SNV Germline	Chr16:13920270	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910086	rs_762885804	2 SubmittersRCV000285190 RCV002061190
NM_000107.3(DDB2):c.264+8A>G	SNV Germline	Chr11:47216480	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group E Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA5972465	rs_374094218	3 SubmittersRCV000263888 RCV000932733 RCV002257631
NM_000107.3(DDB2):c.930C>T (p.Ser310=)	SNV Germline	Chr11:47235319	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group E Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA5972662	rs_549041558	2 SubmittersRCV000324996 RCV002257632
NM_000123.4(ERCC5):c.442C>T (p.Pro148Ser)	SNV Germline	Chr13:102854349	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group G Hereditary cancer-predisposing syndrome Cerebrooculofacioskeletal syndrome 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA7041148	rs_778333931	4 SubmittersRCV000264358 RCV002256194 RCV001294161 RCV002520847
NM_000123.4(ERCC5):c.2295C>T (p.Thr765=)	SNV Germline	Chr13:102866357	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group G Condition: not provided	Criteria Provided Conflicting Classifications	CA7041584	rs_201206202	2 SubmittersRCV000343615 RCV003992274
NM_000123.4(ERCC5):c.2534-10T>G	SNV Germline	Chr13:102868103	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group G Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7041670	rs_199562917	4 SubmittersRCV000289993 RCV002256197 RCV000861321
NM_005236.3(ERCC4):c.840G>A (p.Lys280=)	SNV Germline	Chr16:13930757	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA10642903	rs_886051659	2 SubmittersRCV000315093 RCV002522811
NM_005236.3(ERCC4):c.1102+13G>T	SNV Germline	Chr16:13932298	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910361	rs_199772721	2 SubmittersRCV000260868 RCV002061191
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=)	SNV Germline	Chr16:13935216	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7910435	rs_3136151	4 SubmittersRCV000321953 RCV000529282 RCV003422265 RCV001820939
NM_000400.4(ERCC2):c.2127C>T (p.Thr709=)	SNV Germline	Chr19:45352272	Conflicting classifications of pathogenicity	Inborn genetic diseases Xeroderma pigmentosum, group D Condition: not provided ERCC2-related disorder	Criteria Provided Conflicting Classifications	CA9512876	rs_147128863	6 SubmittersRCV002418191 RCV000390659 RCV000915697 RCV004537834
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=)	SNV Germline	Chr19:45352647	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group D Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9512977	rs_145835916	6 SubmittersRCV000861246 RCV000990228 RCV002257644 RCV002411223
NM_000400.4(ERCC2):c.1644C>T (p.Thr548=)	SNV Germline	Chr19:45354751	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D ERCC2-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9513175	rs_375824454	4 SubmittersRCV000272985 RCV004544596 RCV002392884 RCV002057518
NM_000400.4(ERCC2):c.183+2T>A	SNV Germline	Chr19:45369068	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group D Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA9513899	rs_201127596	4 SubmittersRCV000260066 RCV001859951 RCV003470317
NM_000123.4(ERCC5):c.1641C>T (p.Asn547=)	SNV Germline	Chr13:102862790	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group G Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7041447	rs_200615101	5 SubmittersRCV000317912 RCV000918496 RCV002258871
NM_000123.4(ERCC5):c.3492C>A (p.Thr1164=)	SNV Germline	Chr13:102875834	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group G Condition: not provided	Criteria Provided Conflicting Classifications	CA7041911	rs_148782406	2 SubmittersRCV000377553 RCV003326404
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=)	SNV Germline	Chr16:13947795	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910701	rs_372425414	2 SubmittersRCV000407678 RCV002522813
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=)	SNV Germline	Chr16:13947888	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F not specified Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F Condition: not provided	Criteria Provided Conflicting Classifications	CA7910719	rs_139406689	5 SubmittersRCV000354867 RCV000863529 RCV001820940 RCV005016696 RCV005621935
NM_000400.4(ERCC2):c.1962C>T (p.Phe654=)	SNV Germline	Chr19:45352590	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9512958	rs_762985501	5 SubmittersRCV000370543 RCV000931954 RCV002258877 RCV002418192
NM_000400.4(ERCC2):c.988C>T (p.Leu330=)	SNV Germline	Chr19:45363873	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided Inborn genetic diseases Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA9513552	rs_146022050	4 SubmittersRCV000318853 RCV000900496 RCV002379214 RCV002256205
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	SNV Germline	Chr19:45352801	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group D Condition: not provided Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Inborn genetic diseases Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA9513025	rs_376556895	11 SubmittersRCV000312948 RCV000489442 RCV000763054 RCV002523070 RCV001195426 RCV003470315
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr)	SNV Germline	Chr19:45364274	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D	Criteria Provided Multiple Submitters No Conflicts	CA9513634	rs_370454709	5 SubmittersRCV000435999 RCV002256206 RCV003470316 RCV005025467
NM_000400.4(ERCC2):c.2142C>G (p.Val714=)	SNV Germline	Chr19:45352257	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9512871	rs_546902024	4 SubmittersRCV000300493 RCV002429293 RCV002057517
NM_000400.4(ERCC2):c.1404C>T (p.Pro468=)	SNV Germline	Chr19:45357345	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA10652530	rs_886054497	3 SubmittersRCV000363853 RCV003168490 RCV003727685
NM_000400.4(ERCC2):c.950-13C>A	SNV Germline	Chr19:45363924	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided	Criteria Provided Conflicting Classifications	CA10652536	rs_886054498	2 SubmittersRCV000375762 RCV003698769
NM_000400.4(ERCC2):c.949+9C>T	SNV Germline	Chr19:45363977	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D ERCC2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA9513571	rs_529824119	3 SubmittersRCV000279128 RCV004544597 RCV000915640
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile)	SNV Germline	Chr16:13922064	Conflicting classifications of pathogenicity	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Condition: not provided	Criteria Provided Conflicting Classifications	CA7910134	rs_55761944	3 SubmittersRCV000473210 RCV002496767 RCV004822054
NM_000400.4(ERCC2):c.1666-2A>T	SNV Germline	Chr19:45353336	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D	Criteria Provided Multiple Submitters No Conflicts	CA16620862	rs_199658345	4 SubmittersRCV000479437 RCV003470562 RCV005018808
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr)	SNV Germline	Chr9:97689600	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum group A Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA374187825	rs_104894131	6 SubmittersRCV000492893 RCV000672811 RCV004586740
NM_005236.3(ERCC4):c.471A>G (p.Lys157=)	SNV Germline	Chr16:13926643	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910208	rs_3136092	2 SubmittersRCV000499897 RCV002060112
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=)	SNV Germline	Chr16:13948023	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910736	rs_2020960	2 SubmittersRCV000503360 RCV000651480
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter)	SNV Germline	Chr3:14158640	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA2267485	rs_757958943	8 SubmittersRCV000505517 RCV001090469 RCV001175486
NM_005236.3(ERCC4):c.228G>A (p.Leu76=)	SNV Germline	Chr16:13922051	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F Xeroderma pigmentosum ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA7910129	rs_61760162	4 SubmittersRCV000560297 RCV001116102 RCV002257838 RCV003900232
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr)	SNV Germline	Chr16:13922148	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum not specified Xeroderma pigmentosum, group F Condition: not provided	Criteria Provided Conflicting Classifications	CA7910153	rs_148791570	5 SubmittersRCV000547965 RCV002257839 RCV001821617 RCV001117537 RCV001569666
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe)	SNV Germline	Chr16:13932214	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910342	rs_145851520	2 SubmittersRCV000540520 RCV001292941
NM_004628.5(XPC):c.463C>T (p.Arg155Ter)	SNV Germline	Chr3:14168330	Pathogenic	Xeroderma pigmentosum Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA2267705	rs_755825264	4 SubmittersRCV000587243 RCV000821094 RCV002497239
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)	SNV Germline	Chr3:14152376	Pathogenic	Xeroderma pigmentosum Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2267274	rs_374117852	4 SubmittersRCV000589424 RCV000666668 RCV001390105
NM_000122.2(ERCC3):c.658-7C>G	SNV Germline	Chr2:127289508	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA1858466	rs_200361738	4 SubmittersRCV000612099 RCV001480670 RCV002256408
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter)	SNV Germline	Chr13:102866665	Likely pathogenic	Xeroderma pigmentosum, group G	Criteria Provided Single Submitter	CA388576262	rs_1244074570	2 SubmittersRCV000625479
NM_005236.3(ERCC4):c.1812-5T>C	SNV Germline	Chr16:13937761	Conflicting classifications of pathogenicity	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Xeroderma pigmentosum Condition: not provided Inborn genetic diseases ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA7910562	rs_2020952	8 SubmittersRCV000651479 RCV001788310 RCV000989534 RCV002257913 RCV005231238 RCV002531975 RCV003965394
NM_005236.3(ERCC4):c.714G>A (p.Lys238=)	SNV Germline	Chr16:13928157	Conflicting classifications of pathogenicity	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Condition: not provided	Criteria Provided Conflicting Classifications	CA7910255	rs_780166871	2 SubmittersRCV000651473 RCV004692038
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr)	SNV Germline	Chr19:45364541	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group D Xeroderma pigmentosum ERCC2-related disorder	Criteria Provided Conflicting Classifications	CA9513702	rs_1799792	8 SubmittersRCV000658844 RCV001131818 RCV002257921 RCV004544916
NM_004628.5(XPC):c.2033+5G>A	SNV Germline	Chr3:14156330	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Conflicting Classifications	CA2267299	rs_374329989	3 SubmittersRCV000669856 RCV004692065
NM_004628.5(XPC):c.779+1G>A	SNV Germline	Chr3:14165427	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA69758674	rs_975121308	3 SubmittersRCV000671425 RCV003558514
NM_004628.5(XPC):c.2116-1G>A	SNV Unknown	Chr3:14148949	Likely pathogenic	Xeroderma pigmentosum, group C	No Assertion Criteria Provided	CA351538295	rs_1553604620	1 SubmittersRCV000667696
NM_004628.5(XPC):c.2101G>T (p.Glu701Ter)	SNV Unknown	Chr3:14152349	Likely pathogenic	Xeroderma pigmentosum, group C	No Assertion Criteria Provided	CA351538337	rs_1553605023	1 SubmittersRCV000673420
NM_004628.5(XPC):c.622-2A>G	SNV Germline	Chr3:14165587	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351542228	rs_201940931	7 SubmittersRCV000664737 RCV001529516
NM_004628.5(XPC):c.2317C>T (p.Gln773Ter)	SNV Germline	Chr3:14148665	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Single Submitter	CA351537856	rs_1281090187	2 SubmittersRCV000665464 RCV002530657
NM_004628.5(XPC):c.2218G>T (p.Glu740Ter)	SNV Germline	Chr3:14148846	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351538080	rs_770308917	4 SubmittersRCV000673240 RCV000797367
NM_004628.5(XPC):c.103+1G>A	SNV Germline	Chr3:14178465	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351543560	rs_1423398589	3 SubmittersRCV000668920 RCV001868226
NM_004628.5(XPC):c.2251-2A>G	SNV Germline	Chr3:14148733	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Single Submitter	CA351538002	rs_1553604570	2 SubmittersRCV000674481 RCV003660830
NM_004628.5(XPC):c.1A>G (p.Met1Val)	SNV Germline	Chr3:14178568	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA2267848	rs_763678756	5 SubmittersRCV000666438 RCV002509495 RCV001861752
NM_004628.5(XPC):c.1381G>T (p.Glu461Ter)	SNV Unknown	Chr3:14158502	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter	CA69753225	rs_754197041	2 SubmittersRCV000667716
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)	SNV Germline	Chr3:14148912	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA69742495	rs_754775337	6 SubmittersRCV000666559 RCV001532474 RCV001280679
NM_004628.5(XPC):c.877C>T (p.Arg293Ter)	SNV Germline	Chr3:14164836	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA2267576	rs_373519125	4 SubmittersRCV000670127 RCV002531245 RCV003403557
NM_004628.5(XPC):c.739C>T (p.Arg247Ter)	SNV Germline	Chr3:14165468	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2267613	rs_764321665	4 SubmittersRCV000672294 RCV001048861
NM_004628.5(XPC):c.537-1G>C	SNV Germline	Chr3:14167254	Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351542430	rs_1326646197	3 SubmittersRCV000673738 RCV001855602
NM_004628.5(XPC):c.2033+1G>A	SNV Germline	Chr3:14156334	Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA2267302	rs_764480429	4 SubmittersRCV000674407 RCV001225610 RCV003235341
NM_004628.5(XPC):c.1564A>T (p.Lys522Ter)	SNV Germline	Chr3:14158319	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Single Submitter	CA2267409	rs_746250060	2 SubmittersRCV000664538 RCV002532032
NM_004628.5(XPC):c.299+1G>A	SNV Germline	Chr3:14172866	Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351542988	rs_1553607744	4 SubmittersRCV000666590 RCV000805953
NM_004628.5(XPC):c.103+2T>G	SNV Germline	Chr3:14178464	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Single Submitter	CA351543555	rs_1553608616	2 SubmittersRCV000670023 RCV003767980
NM_004628.5(XPC):c.991-2A>G	SNV Unknown	Chr3:14158894	Likely pathogenic	Xeroderma pigmentosum, group C	No Assertion Criteria Provided	CA351541326	rs_1553605894	1 SubmittersRCV000671134
NM_004628.5(XPC):c.958C>T (p.Gln320Ter)	SNV Germline	Chr3:14159773	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA69754557	rs_867461743	3 SubmittersRCV000666370 RCV001241797
NM_004628.5(XPC):c.779+1G>T	SNV Germline	Chr3:14165427	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA69758666	rs_975121308	4 SubmittersRCV000670600 RCV000806741
NM_004628.5(XPC):c.658C>T (p.Arg220Ter)	SNV Germline	Chr3:14165549	Pathogenic	Xeroderma pigmentosum, group C Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2267625	rs_745679643	4 SubmittersRCV000664637 RCV001201195 RCV001385310
NM_004628.5(XPC):c.55C>T (p.Gln19Ter)	SNV Germline	Chr3:14178514	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351543783	rs_1553608637	4 SubmittersRCV000666399 RCV001038115
NM_004628.5(XPC):c.1A>T (p.Met1Leu)	SNV Germline	Chr3:14178568	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Single Submitter	CA351543954	rs_763678756	2 SubmittersRCV000671101 RCV003669168
NM_000380.4(XPA):c.599T>G (p.Leu200Ter)	SNV Unknown	Chr9:97684997	Likely pathogenic	Xeroderma pigmentosum group A	No Assertion Criteria Provided	CA374187069	rs_755803064	1 SubmittersRCV000674552
NM_000380.4(XPA):c.673+2T>C	SNV Unknown	Chr9:97684921	Likely pathogenic	Xeroderma pigmentosum group A	No Assertion Criteria Provided	CA196750291	rs_1019535182	1 SubmittersRCV000674401
NM_000380.4(XPA):c.646C>T (p.Gln216Ter)	SNV Germline	Chr9:97684950	Pathogenic/Likely pathogenic	Xeroderma pigmentosum group A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5148772	rs_761978351	5 SubmittersRCV000669338 RCV001855518
NM_000380.4(XPA):c.631C>T (p.Arg211Ter)	SNV Germline	Chr9:97684965	Pathogenic/Likely pathogenic	Xeroderma pigmentosum group A Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA5148774	rs_149226993	6 SubmittersRCV000666956 RCV001045901 RCV000781923
NM_000380.4(XPA):c.555+2T>A	SNV Unknown	Chr9:97687094	Likely pathogenic	Xeroderma pigmentosum group A	No Assertion Criteria Provided	CA374187261	rs_1554701478	1 SubmittersRCV000668662
NM_000380.4(XPA):c.555+1G>A	SNV Unknown	Chr9:97687095	Likely pathogenic	Xeroderma pigmentosum group A	No Assertion Criteria Provided	CA374187264	rs_1554701481	1 SubmittersRCV000670923
NM_000380.4(XPA):c.555G>C (p.Gln185His)	SNV Germline	Chr9:97687096	Pathogenic/Likely pathogenic	Xeroderma pigmentosum group A Xeroderma pigmentosum Condition: not provided XPA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA196751062	rs_746617574	6 SubmittersRCV000665444 RCV001174635 RCV001855442 RCV003403537
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)	SNV Germline	Chr9:97689545	Likely pathogenic	Xeroderma pigmentosum group A Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA374187695	rs_1451780491	3 SubmittersRCV000668799 RCV002256462
NM_000380.4(XPA):c.677T>A (p.Leu226Ter)	SNV Germline	Chr9:97675584	Pathogenic	Xeroderma pigmentosum group A Condition: not provided	Criteria Provided Single Submitter	CA374185561	rs_1554699334	2 SubmittersRCV000670364 RCV001035389
NM_000380.4(XPA):c.389+1G>A	SNV Germline	Chr9:97689533	Pathogenic	Xeroderma pigmentosum group A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA374187665	rs_1554701931	3 SubmittersRCV000673551 RCV003688877
NM_000380.4(XPA):c.331G>T (p.Glu111Ter)	SNV Germline	Chr9:97689592	Pathogenic	Xeroderma pigmentosum group A Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA5148841	rs_769255883	6 SubmittersRCV000674100 RCV001230906 RCV001194216
NM_000380.4(XPA):c.172+1G>T	SNV Unknown	Chr9:97697120	Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter	CA374188338	rs_1554703119	2 SubmittersRCV000672997
NM_000380.4(XPA):c.2T>C (p.Met1Thr)	SNV Unknown	Chr9:97697291	Likely pathogenic	Xeroderma pigmentosum group A	No Assertion Criteria Provided	CA374188668	rs_1253496792	1 SubmittersRCV000666994
NM_000380.4(XPA):c.451A>T (p.Lys151Ter)	SNV Unknown	Chr9:97687200	Pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter	CA374187512	rs_1554701532	2 SubmittersRCV000669539
NM_000380.4(XPA):c.389G>A (p.Arg130Lys)	SNV Germline	Chr9:97689534	Likely pathogenic	Xeroderma pigmentosum group A Xeroderma pigmentosum	Criteria Provided Single Submitter	CA374187668	rs_1324310300	2 SubmittersRCV000666137 RCV003403540
NM_000380.4(XPA):c.235G>T (p.Glu79Ter)	SNV Unknown	Chr9:97693697	Likely pathogenic	Xeroderma pigmentosum group A	No Assertion Criteria Provided	CA374188116	rs_1554702608	1 SubmittersRCV000671257
NM_000380.4(XPA):c.172+1G>A	SNV Germline	Chr9:97697120	Likely pathogenic	Xeroderma pigmentosum group A Condition: not provided	Criteria Provided Single Submitter	CA374188340	rs_1554703119	2 SubmittersRCV000667207 RCV001855476
NM_004628.5(XPC):c.1872+1G>C	SNV Germline	Chr3:14158010	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351538848	rs_1559374923	5 SubmittersRCV000680142 RCV003314635
NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter)	SNV Germline	Chr2:127289763	Pathogenic	Xeroderma pigmentosum group B Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA1858507	rs_138385061	3 SubmittersRCV000770819 RCV002536615 RCV004800578
NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter)	SNV Germline	Chr19:45368692	Pathogenic	Xeroderma pigmentosum, group D	No Assertion Criteria Provided	CA406378491	rs_964247601	1 SubmittersRCV000770817
NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter)	SNV Germline	Chr19:45369132	Pathogenic	Xeroderma pigmentosum, group D	No Assertion Criteria Provided	CA406379637	rs_1568546252	1 SubmittersRCV000770818
NM_000400.4(ERCC2):c.184-1G>T	SNV Germline	Chr19:45368993	Pathogenic	Xeroderma pigmentosum, group D	No Assertion Criteria Provided	CA406379304	rs_1568546120	1 SubmittersRCV000770816
NM_000400.4(ERCC2):c.816-2A>G	SNV Germline	Chr19:45364121	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group D Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA9513603	rs_746795177	4 SubmittersRCV000778549 RCV002535637 RCV004569485 RCV004800582
NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter)	SNV Germline	Chr19:45365053	Pathogenic/Likely pathogenic	ERCC2-related disorder Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9513783	rs_151235136	5 SubmittersRCV000784900 RCV003461060 RCV005231325 RCV005029440 RCV003558587
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu)	SNV Germline	Chr16:13935719	Conflicting classifications of pathogenicity	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA7910535	rs_751782722	2 SubmittersRCV000820566 RCV003153866
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)	SNV Germline	Chr16:13947765	Pathogenic/Likely pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Condition: not provided XFE progeroid syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Multiple Submitters No Conflicts	CA7910691	rs_2020959	4 SubmittersRCV000822020 RCV001194781 RCV005021255
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly)	SNV Germline	Chr16:13948019	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Ovarian cancer Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7910734	rs_746576915	3 SubmittersRCV000812059 RCV003153852 RCV003353046
NM_004628.5(XPC):c.2088G>A (p.Val696=)	SNV Germline	Chr3:14152362	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group C Xeroderma pigmentosum XPC-related disorder	Criteria Provided Conflicting Classifications	CA2267272	rs_182189497	5 SubmittersRCV000861308 RCV001146339 RCV002258001 RCV003965637
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)	SNV Germline	Chr16:13926675	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7910210	rs_2020961	4 SubmittersRCV000862022 RCV001292967 RCV002536230 RCV005231406
NM_000122.2(ERCC3):c.2218-5G>A	SNV Germline	Chr2:127257732	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum group B Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA1858035	rs_201054106	3 SubmittersRCV000860911 RCV001132081 RCV002255546
NM_000107.3(DDB2):c.127+5T>G	SNV Germline	Chr11:47215268	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group E not specified Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA5972408	rs_199965459	5 SubmittersRCV000860803 RCV001104634 RCV001579936 RCV002257998
NM_000107.3(DDB2):c.511C>G (p.Gln171Glu)	SNV Germline	Chr11:47232868	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group E	Criteria Provided Conflicting Classifications	CA5972543	rs_201703288	2 SubmittersRCV000950762 RCV001293007
NM_000107.3(DDB2):c.1053T>C (p.Ile351=)	SNV Germline	Chr11:47237866	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group E Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA5972702	rs_61741581	4 SubmittersRCV000957633 RCV001108033 RCV002256631
NM_000122.2(ERCC3):c.2226G>A (p.Arg742=)	SNV Germline	Chr2:127257719	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum group B Xeroderma pigmentosum ERCC3-related disorder	Criteria Provided Conflicting Classifications	CA1858031	rs_376593226	5 SubmittersRCV000882310 RCV001132079 RCV002259043 RCV003955848
NM_004628.5(XPC):c.2496T>C (p.Ile832=)	SNV Germline	Chr3:14147926	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group C Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA2267121	rs_201597537	4 SubmittersRCV000884681 RCV001144433 RCV002258026
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=)	SNV Germline	Chr19:45352782	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group D Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9513021	rs_16979773	6 SubmittersRCV000880351 RCV001129004 RCV002256581 RCV002409124
NM_000400.4(ERCC2):c.1377+8C>T	SNV Germline	Chr19:45357466	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group D	Criteria Provided Conflicting Classifications	CA9513331	rs_370862494	3 SubmittersRCV000880158 RCV001132706
NM_004628.5(XPC):c.2238C>T (p.Ala746=)	SNV Germline	Chr3:14148826	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group C Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA2267228	rs_375170067	4 SubmittersRCV000905965 RCV001146336 RCV002259046
NM_004628.5(XPC):c.102G>A (p.Glu34=)	SNV Germline	Chr3:14178467	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Conflicting Classifications	CA2267822	rs_72561774	3 SubmittersRCV000895000 RCV001147509
NM_006502.3(POLH):c.1473G>A (p.Gln491=)	SNV Germline	Chr6:43613888	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum variant type Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA3827253	rs_142864589	3 SubmittersRCV000925879 RCV001162425 RCV002258047
NM_000380.4(XPA):c.774T>A (p.Arg258=)	SNV Germline	Chr9:97675487	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum group A	Criteria Provided Conflicting Classifications	CA5148678	rs_746694561	2 SubmittersRCV000913206 RCV001166526
NM_000123.4(ERCC5):c.294G>A (p.Ala98=)	SNV Germline	Chr13:102853786	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group G	Criteria Provided Conflicting Classifications	CA7041107	rs_780506840	2 SubmittersRCV000916387 RCV001112011
NM_000123.4(ERCC5):c.2280C>T (p.Ile760=)	SNV Germline	Chr13:102866342	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group G	Criteria Provided Conflicting Classifications	CA7041581	rs_773823921	3 SubmittersRCV000920416 RCV001113895
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=)	SNV Germline	Chr19:45353125	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group D Xeroderma pigmentosum Inborn genetic diseases ERCC2-related disorder	Criteria Provided Conflicting Classifications	CA9513078	rs_138038607	7 SubmittersRCV000914167 RCV001131690 RCV002256596 RCV002409169 RCV004541962
NM_000400.4(ERCC2):c.552G>C (p.Gly184=)	SNV Germline	Chr19:45364880	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group D Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9513747	rs_769750286	3 SubmittersRCV000927354 RCV001131819 RCV002346099
NM_004628.5(XPC):c.2250+6G>A	SNV Germline	Chr3:14148808	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group C Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA2267222	rs_201446851	3 SubmittersRCV000914044 RCV001146335 RCV002258039
NM_000400.4(ERCC2):c.1378-8C>T	SNV Germline	Chr19:45357379	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA9513309	rs_558250151	3 SubmittersRCV000917756 RCV002256598
NM_004628.5(XPC):c.1509C>T (p.Ser503=)	SNV Germline	Chr3:14158374	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group C Xeroderma pigmentosum not specified	Criteria Provided Conflicting Classifications	CA2267420	rs_760867012	5 SubmittersRCV000933789 RCV001144543 RCV002259058 RCV005436356
NM_004628.5(XPC):c.203A>T (p.Asp68Val)	SNV Germline	Chr3:14172963	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Conflicting Classifications	CA2267778	rs_56012223	2 SubmittersRCV000940509 RCV001292834
NM_000380.4(XPA):c.234A>G (p.Glu78=)	SNV Germline	Chr9:97693698	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum XPA-related disorder	Criteria Provided Conflicting Classifications	CA5148878	rs_144543144	3 SubmittersRCV000930082 RCV002255580 RCV003933165
NM_000400.4(ERCC2):c.156G>A (p.Leu52=)	SNV Germline	Chr19:45369097	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group D Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9513901	rs_202156896	4 SubmittersRCV000931392 RCV001136194 RCV002258050 RCV002400043
NM_000122.2(ERCC3):c.2218-6C>T	SNV Germline	Chr2:127257733	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum group B Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA1858036	rs_200733704	3 SubmittersRCV000935765 RCV001132082 RCV002256615
NM_000400.4(ERCC2):c.2191-4G>A	SNV Germline	Chr19:45351725	Conflicting classifications of pathogenicity	Condition: not provided Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA9512820	rs_201840907	4 SubmittersRCV000967520 RCV001294171 RCV001135983 RCV002256635
NM_004628.5(XPC):c.1365C>T (p.Pro455=)	SNV Germline	Chr3:14158518	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Conflicting Classifications	CA2267446	rs_753527196	2 SubmittersRCV000980736 RCV001144546
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile)	SNV Germline	Chr19:45357323	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum Xeroderma pigmentosum, group D	Criteria Provided Conflicting Classifications	CA9513295	rs_531021258	4 SubmittersRCV000978494 RCV002258075 RCV001132705
NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter)	SNV Unknown	Chr2:127271348	Likely pathogenic	Xeroderma pigmentosum group B	Criteria Provided Single Submitter	CA348387004	rs_1404157087	1 SubmittersRCV000986806
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter)	SNV Germline	Chr2:127292621	Pathogenic	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA348391475	rs_1404293670	2 SubmittersRCV000986811 RCV001858655
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile)	SNV Germline	Chr13:102862917	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group G Condition: not provided Hereditary cancer-predisposing syndrome Cerebrooculofacioskeletal syndrome 3 ERCC5-related disorder	Criteria Provided Conflicting Classifications	CA7041463	rs_4150318	9 SubmittersRCV000989159 RCV001579437 RCV002255601 RCV001788388 RCV003936244
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter)	SNV Germline	Chr2:127279315	Pathogenic/Likely pathogenic	Condition: not provided Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B	Criteria Provided Multiple Submitters No Conflicts	CA348388639	rs_1302552127	3 SubmittersRCV000997199 RCV005029555
NM_000380.4(XPA):c.555+8A>G	SNV Germline	Chr9:97687088	Pathogenic	Condition: not provided Xeroderma pigmentosum Inborn genetic diseases Xeroderma pigmentosum group A	Criteria Provided Multiple Submitters No Conflicts	CA5148803	rs_756967163	5 SubmittersRCV001056570 RCV001585956 RCV002553365 RCV003467782
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala)	SNV Germline	Chr6:43614489	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum variant type not specified	Criteria Provided Conflicting Classifications	CA3827358	rs_199562456	5 SubmittersRCV001090592 RCV003132220 RCV003155358
NM_000107.3(DDB2):c.59G>A (p.Arg20Lys)	SNV Germline	Chr11:47215195	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group E Condition: not provided Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5972396	rs_373622283	7 SubmittersRCV001104633 RCV002555028 RCV002258135 RCV002555027
NM_000123.4(ERCC5):c.3533G>A (p.Arg1178His)	SNV Germline	Chr13:102875875	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group G Ovarian cancer	Criteria Provided Conflicting Classifications	CA7041924	rs_188710607	2 SubmittersRCV001109957 RCV003153930
NM_000123.4(ERCC5):c.1955-6G>A	SNV Germline	Chr13:102865661	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group G Condition: not provided	Criteria Provided Conflicting Classifications	CA7041505	rs_371527587	2 SubmittersRCV001112551 RCV005093514
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=)	SNV Germline	Chr16:13935672	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome	Criteria Provided Conflicting Classifications	CA278472140	rs_374556359	2 SubmittersRCV001119238 RCV002556538
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=)	SNV Germline	Chr16:13947774	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome	Criteria Provided Conflicting Classifications	CA493689735	rs_1255618541	2 SubmittersRCV001121238 RCV001312489
NM_005236.3(ERCC4):c.2514T>C (p.Leu838=)	SNV Germline	Chr16:13948110	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F ERCC4-related disorder Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910758	rs_200069811	3 SubmittersRCV001116323 RCV003898110 RCV002558148
NM_005236.3(ERCC4):c.973+11A>T	SNV Germline	Chr16:13930901	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F not specified Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7910316	rs_185779788	4 SubmittersRCV001121129 RCV001819831 RCV002069968 RCV003238307
NM_000122.2(ERCC3):c.1986G>A (p.Leu662=)	SNV Germline	Chr2:127261306	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Conflicting Classifications	CA428609430	rs_1419254389	2 SubmittersRCV001133017 RCV003769258
NM_000122.2(ERCC3):c.1911C>G (p.Ala637=)	SNV Germline	Chr2:127271370	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA428604605	rs_1258857605	2 SubmittersRCV001133018 RCV002256688
NM_000122.2(ERCC3):c.1182C>T (p.Ser394=)	SNV Germline	Chr2:127286863	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Conflicting Classifications	CA1858338	rs_377391723	2 SubmittersRCV001136454 RCV002070587
NM_000122.2(ERCC3):c.1110T>C (p.Ser370=)	SNV Germline	Chr2:127286935	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Conflicting Classifications	CA1858353	rs_774063464	3 SubmittersRCV001129470 RCV004694815
NM_000400.4(ERCC2):c.2247G>A (p.Thr749=)	SNV Germline	Chr19:45351665	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9512803	rs_200756227	3 SubmittersRCV001132598 RCV002418589 RCV002070546
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=)	SNV Germline	Chr19:45353099	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Xeroderma pigmentosum Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9513070	rs_368708674	5 SubmittersRCV001131687 RCV002258138 RCV002411639 RCV002070536
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp)	SNV Germline	Chr19:45353113	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided not specified Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D	Criteria Provided Conflicting Classifications	CA9513075	rs_753641926	7 SubmittersRCV001131689 RCV001267911 RCV002282460 RCV005400488
NM_000400.4(ERCC2):c.1725C>T (p.Ala575=)	SNV Germline	Chr19:45353275	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D ERCC2-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9513134	rs_116544270	5 SubmittersRCV001132703 RCV004538355 RCV002402511 RCV001510707
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)	SNV Germline	Chr19:45357512	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications	CA9513344	rs_141457460	3 SubmittersRCV001136105 RCV003405337 RCV001294169
NM_000400.4(ERCC2):c.978C>G (p.Ala326=)	SNV Germline	Chr19:45363883	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA507821940	rs_746258199	3 SubmittersRCV001136107 RCV002375034 RCV003718354
NM_000400.4(ERCC2):c.930G>C (p.Leu310=)	SNV Germline	Chr19:45364005	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA507821970	rs_1471014609	3 SubmittersRCV001129132 RCV002375030 RCV003769239
NM_000400.4(ERCC2):c.348T>C (p.Cys116=)	SNV Germline	Chr19:45368642	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9513828	rs_769231981	3 SubmittersRCV001132799 RCV002451337 RCV002070548
NM_000400.4(ERCC2):c.57C>T (p.Pro19=)	SNV Germline	Chr19:45370181	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9513947	rs_369106754	4 SubmittersRCV001136195 RCV002355119 RCV002070584
NM_000400.4(ERCC2):c.2190+11C>T	SNV Germline	Chr19:45352198	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided	Criteria Provided Conflicting Classifications	CA9512856	rs_374737560	2 SubmittersRCV001135984 RCV002070582
NM_000400.4(ERCC2):c.1307+14C>G	SNV Germline	Chr19:45357616	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided	Criteria Provided Conflicting Classifications	CA9513378	rs_368946956	2 SubmittersRCV001136106 RCV003769643
NM_004628.5(XPC):c.2412C>T (p.Ser804=)	SNV Germline	Chr3:14148570	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Conflicting Classifications	CA2267165	rs_752120059	2 SubmittersRCV001144436 RCV001460111
NM_004628.5(XPC):c.1947G>A (p.Leu649=)	SNV Germline	Chr3:14156421	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Conflicting Classifications	CA2267319	rs_764572758	2 SubmittersRCV001149138 RCV003769713
NM_004628.5(XPC):c.1023G>A (p.Ala341=)	SNV Germline	Chr3:14158860	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2267515	rs_370847346	4 SubmittersRCV001146475 RCV001433313 RCV005437004
NM_004628.5(XPC):c.2251-7G>A	SNV Germline	Chr3:14148738	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Conflicting Classifications	CA2267201	rs_756300837	2 SubmittersRCV001144438 RCV001457378
NM_004628.5(XPC):c.779+12C>G	SNV Germline	Chr3:14165416	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Conflicting Classifications	CA2267602	rs_754591857	2 SubmittersRCV001149248 RCV003718365
NM_004628.5(XPC):c.779+11C>T	SNV Germline	Chr3:14165417	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA2267603	rs_199838876	3 SubmittersRCV001149249 RCV002557211 RCV002258144
NM_004628.5(XPC):c.536+11G>T	SNV Germline	Chr3:14168246	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Conflicting Classifications	CA2267686	rs_182782193	2 SubmittersRCV001150748 RCV003574846
NM_006502.3(POLH):c.229C>T (p.Leu77=)	SNV Germline	Chr6:43583098	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum variant type	Criteria Provided Conflicting Classifications	CA3826909	rs_199840329	2 SubmittersRCV003558732 RCV001164354
NM_006502.3(POLH):c.396A>G (p.Leu132=)	SNV Germline	Chr6:43587395	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum variant type	Criteria Provided Conflicting Classifications	CA450293030	rs_1449546916	2 SubmittersRCV003698847 RCV001164359
NM_006502.3(POLH):c.525C>T (p.Leu175=)	SNV Germline	Chr6:43597730	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Conflicting Classifications	CA3827003	rs_150901869	3 SubmittersRCV001159433 RCV003558726
NM_006502.3(POLH):c.815T>C (p.Ile272Thr)	SNV Germline	Chr6:43603942	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA3827088	rs_147712217	4 SubmittersRCV001160807 RCV002258146 RCV002070990
NM_006502.3(POLH):c.1299C>A (p.Ala433=)	SNV Germline	Chr6:43613714	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA3827230	rs_140331414	4 SubmittersRCV001162422 RCV003546668 RCV002259086
NM_006502.3(POLH):c.1406C>T (p.Ala469Val)	SNV Germline	Chr6:43613821	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Inborn genetic diseases Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA3827242	rs_200438344	3 SubmittersRCV001162423 RCV005262257 RCV002258147
NM_006502.3(POLH):c.2031A>T (p.Val677=)	SNV Germline	Chr6:43614446	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Conflicting Classifications	CA3827353	rs_746206386	3 SubmittersRCV001159537 RCV001594410
NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter)	SNV Germline	Chr3:14158179	Pathogenic	Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351539228	rs_1695999145	2 SubmittersRCV001192698 RCV003558747
NM_004628.5(XPC):c.1660C>T (p.Gln554Ter)	SNV Germline	Chr3:14158223	Likely pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter	CA351539874	rs_1696002966	1 SubmittersRCV001194077
NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg)	SNV Germline	Chr13:102866725	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA255229275	rs_899478069	4 SubmittersRCV001200393 RCV001844271
NM_004628.5(XPC):c.1677C>G (p.Tyr559Ter)	SNV Germline	Chr3:14158206	Pathogenic	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA2267390	rs_767569346	3 SubmittersRCV001214362 RCV001828707
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys)	SNV Germline	Chr16:13947844	Conflicting classifications of pathogenicity	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Spastic ataxia	Criteria Provided Conflicting Classifications	CA7910710	rs_374978891	2 SubmittersRCV001211525 RCV001644951
NM_005236.3(ERCC4):c.793-2A>G	SNV Germline	Chr16:13930708	Pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome	Criteria Provided Single Submitter	CA394803715	rs_2032155264	1 SubmittersRCV001212995
NM_004628.5(XPC):c.2420+2T>C	SNV Germline	Chr3:14148560	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA2267162	rs_778987248	3 SubmittersRCV001237768 RCV003462805
NM_004628.5(XPC):c.104-2A>G	SNV Germline	Chr3:14173064	Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA351543417	rs_1696679400	2 SubmittersRCV001233225 RCV003462792
NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)	SNV Germline	Chr2:127280620	Pathogenic/Likely pathogenic	Condition: not provided Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B Xeroderma pigmentosum group B	Criteria Provided Multiple Submitters No Conflicts	CA1858281	rs_150954655	4 SubmittersRCV001871730 RCV005014332 RCV001523810
NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val)	SNV Germline	Chr13:102866765	Pathogenic/Likely pathogenic	Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7041643	rs_774078839	3 SubmittersRCV001291297 RCV001760329
NM_004628.5(XPC):c.1133G>A (p.Arg378Lys)	SNV Germline	Chr3:14158750	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Condition: not provided Inborn genetic diseases Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA2267501	rs_533121927	5 SubmittersRCV001292648 RCV003238336 RCV002538414 RCV002258181
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)	SNV Germline	Chr19:45352801	Conflicting classifications of pathogenicity	Condition: not provided Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 ERCC2-related disorder Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Conflicting Classifications	CA308951355	rs_376556895	6 SubmittersRCV001780237 RCV001292729 RCV002256728 RCV003469508 RCV004531070 RCV005029860
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)	SNV Germline	Chr16:13935323	Conflicting classifications of pathogenicity	Ovarian cancer XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome	Criteria Provided Conflicting Classifications	CA7910457	rs_780488548	3 SubmittersRCV003153976 RCV005014361 RCV001300359
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)	SNV Germline	Chr16:13935734	Conflicting classifications of pathogenicity	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum Condition: not provided not specified Xeroderma pigmentosum, group F Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7910540	rs_138532294	6 SubmittersRCV001294384 RCV002258183 RCV005051884 RCV001819982 RCV005601734 RCV005550237
NM_000122.2(ERCC3):c.1854G>A (p.Pro618=)	SNV Germline	Chr2:127271427	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA1858154	rs_765724086	2 SubmittersRCV001326876 RCV002258204
NM_000400.4(ERCC2):c.1267G>A (p.Asp423Asn)	SNV Germline	Chr19:45357670	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum Inborn genetic diseases not specified Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications	CA9513390	rs_143710107	7 SubmittersRCV001323801 RCV002259105 RCV002545132 RCV004800977 RCV005400502
NM_004628.5(XPC):c.780-2A>T	SNV Germline	Chr3:14164935	Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA351541887	rs_1696314718	2 SubmittersRCV001376873 RCV004570800
NM_000400.4(ERCC2):c.595-10G>A	SNV Germline	Chr19:45364557	Conflicting classifications of pathogenicity	Trichothiodystrophy 1, photosensitive Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA9513705	rs_761737358	3 SubmittersRCV001331198 RCV001871815 RCV003387999
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys)	SNV Germline	Chr19:45368656	Conflicting classifications of pathogenicity	Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 not specified Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Conflicting Classifications	CA9513829	rs_760820378	3 SubmittersRCV001329857 RCV003469559 RCV004690082 RCV005014439
NM_004628.5(XPC):c.2T>G (p.Met1Arg)	SNV Germline	Chr3:14178567	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA2267847	rs_760324503	2 SubmittersRCV001377067 RCV004800999
NM_005236.3(ERCC4):c.1102+1G>T	SNV Germline	Chr16:13932286	Likely pathogenic	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA394806012	rs_1314323456	2 SubmittersRCV001377820 RCV003226467
NM_004628.5(XPC):c.2544G>A (p.Trp848Ter)	SNV Germline	Chr3:14147350	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA351537344	rs_1317050260	2 SubmittersRCV001388885 RCV005038205
NM_004628.5(XPC):c.2263G>T (p.Glu755Ter)	SNV Germline	Chr3:14148719	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA351537978	rs_776361955	2 SubmittersRCV001383686 RCV005023141
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)	SNV Germline	Chr16:13920187	Pathogenic	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Single Submitter	CA394815859	rs_774510191	1 SubmittersRCV001389442
NM_004628.5(XPC):c.2116-10T>C	SNV Germline	Chr3:14148958	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA1346951089	rs_1695570524	2 SubmittersRCV001431615 RCV002259124
NM_004628.5(XPC):c.338A>G (p.Lys113Arg)	SNV Germline	Chr3:14170512	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA2267740	rs_560354293	2 SubmittersRCV001449341 RCV002258264
NM_005236.3(ERCC4):c.537A>G (p.Glu179=)	SNV Germline	Chr16:13926709	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome not specified Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA7910215	rs_373408411	3 SubmittersRCV001437611 RCV001820131 RCV002258256
NM_000400.4(ERCC2):c.2010C>T (p.Gly670=)	SNV Germline	Chr19:45352542	Likely pathogenic	Xeroderma pigmentosum, group D	Criteria Provided Single Submitter	CA507953362	rs_754967981	1 SubmittersRCV001507019
NM_000400.4(ERCC2):c.139G>A (p.Gly47Arg)	SNV Germline	Chr19:45369114	Pathogenic	Condition: not provided Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA406379545	rs_1360631927	3 SubmittersRCV001531476 RCV003994304 RCV005023184
NM_000400.4(ERCC2):c.1585G>A (p.Ala529Thr)	SNV Germline	Chr19:45354810	Conflicting classifications of pathogenicity	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications	CA9513194	rs_370819591	3 SubmittersRCV001576927 RCV005014595
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter)	SNV Germline	Chr19:45352256	Conflicting classifications of pathogenicity	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications	CA9512870	rs_774392894	5 SubmittersRCV001765013 RCV003464127 RCV005419200 RCV005014629
NM_000400.4(ERCC2):c.1377+2T>C	SNV Germline	Chr19:45357472	Conflicting classifications of pathogenicity	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications	CA9513333	rs_201505264	4 SubmittersRCV001774101 RCV003470884 RCV005014634
NM_000400.4(ERCC2):c.1726G>A (p.Glu576Lys)	SNV Germline	Chr19:45353274	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group D	Criteria Provided Conflicting Classifications	CA9513133	rs_201165309	3 SubmittersRCV001758572 RCV004577922
NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln)	SNV Germline	Chr19:45365091	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA9513791	rs_150000483	3 SubmittersRCV002256833 RCV002540725
NM_000400.4(ERCC2):c.1759-2A>G	SNV Germline	Chr19:45353157	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA9513089	rs_774936846	4 SubmittersRCV003237447 RCV003470891 RCV005014652
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter)	SNV Germline	Chr2:127286883	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA348389868	rs_1055129064	2 SubmittersRCV001780443 RCV002478003
NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter)	SNV Germline	Chr3:14147299	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Xeroderma pigmentosum, group C	Criteria Provided Conflicting Classifications	CA351537240	rs_370126012	2 SubmittersRCV001797908 RCV005397020
NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly)	SNV Germline	Chr19:45352580	Likely pathogenic	Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Single Submitter	CA406363209	rs_121913021	1 SubmittersRCV001799560
NM_000107.3(DDB2):c.1187C>A (p.Ser396Ter)	SNV Germline	Chr11:47238000	Pathogenic	Xeroderma pigmentosum, group E	Criteria Provided Single Submitter	CA5972723	rs_781655324	1 SubmittersRCV001808076
NM_006502.3(POLH):c.1561C>T (p.Gln521Ter)	SNV Germline	Chr6:43613976	Likely pathogenic	Xeroderma pigmentosum variant type	Criteria Provided Single Submitter	CA364266642	rs_2127821940	1 SubmittersRCV001808275
NM_000123.4(ERCC5):c.673-2A>G	SNV Germline	Chr13:102861505	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 3 Xeroderma pigmentosum, group G	Criteria Provided Multiple Submitters No Conflicts	CA7041261	rs_756420203	2 SubmittersRCV001822133 RCV002503310
NM_005236.3(ERCC4):c.576G>C (p.Leu192=)	SNV Germline	Chr16:13926748	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome	Criteria Provided Conflicting Classifications	CA493424896	rs_2141944936	2 SubmittersRCV001820410 RCV002074332
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)	SNV Germline	Chr16:13926751	Pathogenic	Condition: not provided Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome ERCC4-Related Disorders	Criteria Provided Multiple Submitters No Conflicts	CA7910224	rs_753325454	3 SubmittersRCV001817844 RCV001869789 RCV004782796
NM_004628.5(XPC):c.2250+1G>A	SNV Germline	Chr3:14148813	Pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter	CA2267223	rs_746319045	2 SubmittersRCV002280586
NM_000122.2(ERCC3):c.657+1G>A	SNV Germline	Chr2:127289688	Likely pathogenic	Condition: not provided Xeroderma pigmentosum Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA1858486	rs_56116802	3 SubmittersRCV001973143 RCV002266076 RCV005025553
NM_006502.3(POLH):c.1066C>T (p.Arg356Ter)	SNV Germline	Chr6:43605311	Pathogenic	Condition: not provided Xeroderma pigmentosum variant type	Criteria Provided Multiple Submitters No Conflicts	CA3827165	rs_559497462	2 SubmittersRCV001963029 RCV003994368
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter)	SNV Germline	Chr16:13935183	Pathogenic	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Single Submitter	CA7910429	rs_762738968	1 SubmittersRCV001919468
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr)	SNV Germline	Chr19:45365077	Conflicting classifications of pathogenicity	Condition: not provided not specified Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications	CA9513788	rs_201382232	5 SubmittersRCV001926551 RCV002222744 RCV004728951
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)	SNV Germline	Chr16:13920223	Pathogenic	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q	Criteria Provided Single Submitter	CA394816007	rs_1355878901	1 SubmittersRCV002037756
NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter)	SNV Germline	Chr19:45357497	Pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D	Criteria Provided Multiple Submitters No Conflicts	CA308959192	rs_199643821	4 SubmittersRCV001942186 RCV003471163 RCV005016946
NM_004628.5(XPC):c.2010T>A (p.Cys670Ter)	SNV Germline	Chr3:14156358	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA351538542	rs_781023624	2 SubmittersRCV001941958 RCV003464300
NM_000400.4(ERCC2):c.1480-2A>C	SNV Germline	Chr19:45355730	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA406366011	rs_1971989621	2 SubmittersRCV002050221 RCV005023282
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val)	SNV Germline	Chr16:13947832	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA394822651	rs_756050702	2 SubmittersRCV002034990 RCV005552438
NM_005236.3(ERCC4):c.2016C>T (p.Ala672=)	SNV Germline	Chr16:13944834	Conflicting classifications of pathogenicity	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7910637	rs_775414253	2 SubmittersRCV002015265 RCV005242145
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter)	SNV Germline	Chr2:127279183	Pathogenic/Likely pathogenic	Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1858212	rs_768687646	2 SubmittersRCV002507014 RCV001935189
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter)	SNV Germline	Chr2:127259382	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B	Criteria Provided Multiple Submitters No Conflicts	CA1858073	rs_763315862	4 SubmittersRCV001956455 RCV002564395 RCV003136379 RCV005025533
NM_000400.4(ERCC2):c.1308-2A>G	SNV Germline	Chr19:45357545	Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA9513353	rs_766369300	3 SubmittersRCV002021331 RCV005017086 RCV003471277
NM_000400.4(ERCC2):c.184-6C>T	SNV Germline	Chr19:45368998	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA9513877	rs_763639137	2 SubmittersRCV002205230 RCV002258367
NM_000400.4(ERCC2):c.1832-7C>T	SNV Germline	Chr19:45352823	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA633480443	rs_1410724947	2 SubmittersRCV002105132 RCV002256918
NM_000400.4(ERCC2):c.949+5G>A	SNV Germline	Chr19:45363981	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided	Criteria Provided Conflicting Classifications	CA308966588	rs_899469885	3 SubmittersRCV002249939 RCV003101342
NM_006502.3(POLH):c.638C>G (p.Ser213Ter)	SNV Germline	Chr6:43597843	Pathogenic/Likely pathogenic	Xeroderma pigmentosum variant type See cases	Criteria Provided Multiple Submitters No Conflicts	CA138324767	rs_763654639	2 SubmittersRCV002250252 RCV002252782
NM_000107.3(DDB2):c.619C>T (p.Leu207=)	SNV Germline	Chr11:47234589	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA5972570	rs_753070223	2 SubmittersRCV002258481 RCV004809803
NM_000122.2(ERCC3):c.235-1G>A	SNV Germline	Chr2:127292847	Likely pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter	CA348391970	rs_1420747225	1 SubmittersRCV002257080
NM_000122.2(ERCC3):c.472-10G>A	SNV Germline	Chr2:127290283	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA1858534	rs_369227601	2 SubmittersRCV002257082 RCV003101408
NM_000123.4(ERCC5):c.592C>G (p.Pro198Ala)	SNV Germline	Chr13:102858338	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Inborn genetic diseases Condition: not provided Xeroderma pigmentosum, group G Cerebrooculofacioskeletal syndrome 3	Criteria Provided Conflicting Classifications	CA7041222	rs_141369732	4 SubmittersRCV002257092 RCV004047400 RCV003718462 RCV005002811
NM_000400.4(ERCC2):c.1666-4C>T	SNV Germline	Chr19:45353338	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA9513145	rs_761821592	2 SubmittersRCV002258538 RCV003094220
NM_004628.5(XPC):c.352A>G (p.Met118Val)	SNV Germline	Chr3:14170498	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA69762847	rs_967577305	2 SubmittersRCV002259264 RCV003250478
NM_005236.3(ERCC4):c.2017+1G>C	SNV Germline	Chr16:13944836	Likely pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter	CA394818383	rs_587777943	1 SubmittersRCV002259275
NM_006502.3(POLH):c.1000C>G (p.Arg334Gly)	SNV Germline	Chr6:43604730	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided POLH-related disorder	Criteria Provided Conflicting Classifications	CA3827136	rs_9333548	4 SubmittersRCV002258726 RCV003325597 RCV003960970
NM_000380.4(XPA):c.673+1G>A	SNV Germline	Chr9:97684922	Likely pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter	CA374186799	rs_2131393093	1 SubmittersRCV002266270
NM_000380.4(XPA):c.520C>T (p.Gln174Ter)	SNV Germline	Chr9:97687131	Pathogenic	Xeroderma pigmentosum group A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA374187351	rs_2490221098	2 SubmittersRCV002289322 RCV003097777
NM_005236.3(ERCC4):c.2026G>T (p.Glu676Ter)	SNV Germline	Chr16:13947622	Pathogenic	Xeroderma pigmentosum, group F	Criteria Provided Single Submitter	CA394820854	rs_2141619663	1 SubmittersRCV002468705
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)	SNV Germline	Chr2:127286745	Pathogenic/Likely pathogenic	Xeroderma pigmentosum group B Xeroderma pigmentosum Condition: not provided Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA348389568	rs_1434876636	4 SubmittersRCV002472162 RCV003317611 RCV003730245 RCV005019216
NM_000400.4(ERCC2):c.1805G>A (p.Gly602Asp)	SNV Germline	Chr19:45353109	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA9513073	rs_771824813	2 SubmittersRCV004765643 RCV003064589
NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter)	SNV Germline	Chr19:45363844	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA406372750	rs_1412068236	3 SubmittersRCV003084939 RCV005028233 RCV003465963
NM_000400.4(ERCC2):c.1132C>T (p.Arg378Cys)	SNV Germline	Chr19:45361629	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Xeroderma pigmentosum, group D	Criteria Provided Conflicting Classifications	CA9513494	rs_186220206	3 SubmittersRCV002605879 RCV002605878 RCV003388152
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)	SNV Germline	Chr16:13930789	Pathogenic	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Single Submitter	CA278466697	rs_900093826	1 SubmittersRCV002595685
NM_000122.2(ERCC3):c.1828-1G>C	SNV Germline	Chr2:127271454	Likely pathogenic	Condition: not provided Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA1858160	rs_755760603	2 SubmittersRCV002622145 RCV005025908
NM_004628.5(XPC):c.1872+1G>A	SNV Germline	Chr3:14158010	Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA351538847	rs_1559374923	2 SubmittersRCV002666746 RCV003465807
NM_004628.5(XPC):c.1969G>T (p.Glu657Ter)	SNV Germline	Chr3:14156399	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter	CA351538629	rs_759561565	1 SubmittersRCV003225860
NM_006502.3(POLH):c.1613T>C (p.Leu538Pro)	SNV Germline	Chr6:43614028	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Conflicting Classifications	CA3827275	rs_189022924	2 SubmittersRCV003135092 RCV003730403
NM_000123.4(ERCC5):c.381-2A>G	SNV Germline	Chr13:102854286	Likely pathogenic	Xeroderma pigmentosum, group G	No Assertion Criteria Provided	CA388568324	rs_2501536677	1 SubmittersRCV003326669
NM_005236.3(ERCC4):c.1214-1G>A	SNV Germline	Chr16:13935145	Likely pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter	CA394808760	rs_2543179894	1 SubmittersRCV003155758
NM_005236.3(ERCC4):c.100G>A (p.Val34Met)	SNV Germline	Chr16:13920265	Conflicting classifications of pathogenicity	Ovarian cancer Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA394816150	rs_61731714	2 SubmittersRCV003154735 RCV003778920
NM_000380.4(XPA):c.674-2A>G	SNV Germline	Chr9:97675589	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum group A	Criteria Provided Conflicting Classifications	CA374185574	rs_1384309620	3 SubmittersRCV003226668 RCV004572885
NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter)	SNV Germline	Chr16:13922126	Likely pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter	CA394818119	rs_2141940032	1 SubmittersRCV003226760
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)	SNV Germline	Chr19:45368728	Pathogenic/Likely pathogenic	Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9513844	rs_748842373	3 SubmittersRCV003236423 RCV003466048 RCV003561256
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)	SNV Germline	Chr19:45353112	Pathogenic/Likely pathogenic	Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9513074	rs_140522180	4 SubmittersRCV003317740 RCV003459829 RCV005021903 RCV003561292
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)	SNV Germline	Chr3:14158129	Likely pathogenic	Xeroderma pigmentosum Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA2267372	rs_749681216	2 SubmittersRCV003332070 RCV003459839
NM_000400.4(ERCC2):c.361-1G>A	SNV Germline	Chr19:45365159	Pathogenic	Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D	Criteria Provided Multiple Submitters No Conflicts	CA9513812	rs_773645934	2 SubmittersRCV003467918 RCV005030037
NM_000380.4(XPA):c.574G>T (p.Glu192Ter)	SNV Germline	Chr9:97685022	Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Multiple Submitters No Conflicts	CA374187165	rs_2490215392	2 SubmittersRCV003464890
NM_004628.5(XPC):c.2515A>T (p.Lys839Ter)	SNV Unknown	Chr3:14147379	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter	CA69741321	rs_765684436	1 SubmittersRCV003464893
NM_004628.5(XPC):c.1336G>T (p.Glu446Ter)	SNV Unknown	Chr3:14158547	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter	CA351540583	rs_1696028787	1 SubmittersRCV003466560
NM_004628.5(XPC):c.1102C>T (p.Gln368Ter)	SNV Unknown	Chr3:14158781	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter	CA351541083	rs_2470261046	1 SubmittersRCV003466561
NM_004628.5(XPC):c.1593G>A (p.Trp531Ter)	SNV Unknown	Chr3:14158290	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter	CA351540028	rs_2470257940	1 SubmittersRCV003464895
NM_004628.5(XPC):c.621+1G>A	SNV Germline	Chr3:14167168	Likely pathogenic	Xeroderma pigmentosum, group C Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA351542234	rs_1399465960	2 SubmittersRCV003464896 RCV004765852
NM_004628.5(XPC):c.2421-2A>G	SNV Unknown	Chr3:14148003	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter	CA351537633	rs_2470222942	1 SubmittersRCV003466567
NM_004628.5(XPC):c.977C>G (p.Ser326Ter)	SNV Unknown	Chr3:14159754	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter	CA351541358	rs_924205965	1 SubmittersRCV003466570
NM_004628.5(XPC):c.1420C>T (p.Gln474Ter)	SNV Germline	Chr3:14158463	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2267437	rs_776865296	3 SubmittersRCV003464899 RCV003720933
NM_006502.3(POLH):c.571A>C (p.Thr191Pro)	SNV Germline	Chr6:43597776	Likely pathogenic	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA364280655	rs_760104150	2 SubmittersRCV003479531 RCV003779188
NM_004628.5(XPC):c.991-2A>C	SNV Germline	Chr3:14158894	Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA351541327	rs_1553605894	2 SubmittersRCV003561934 RCV004574086
NM_004628.5(XPC):c.990+1G>A	SNV Germline	Chr3:14159740	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA351541333	rs_2470264146	2 SubmittersRCV003555030 RCV004574096
NM_000380.4(XPA):c.283G>A (p.Gly95Arg)	SNV Germline	Chr9:97693649	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum group A Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA374187933	rs_2490237534	3 SubmittersRCV003557460 RCV004574099 RCV005063025
NM_006502.3(POLH):c.499C>T (p.Arg167Ter)	SNV Germline	Chr6:43597704	Pathogenic	Condition: not provided Xeroderma pigmentosum variant type	Criteria Provided Multiple Submitters No Conflicts	CA364280217	rs_1396889047	2 SubmittersRCV003555256 RCV003991058
NM_004628.5(XPC):c.514C>T (p.Gln172Ter)	SNV Germline	Chr3:14168279	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA351542488	rs_778940656	2 SubmittersRCV003679492 RCV004574214
NM_000400.4(ERCC2):c.2125A>C (p.Thr709Pro)	SNV Germline	Chr19:45352274	Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA9512879	rs_758758729	2 SubmittersRCV003725638 RCV005014903
NM_000380.4(XPA):c.173-2A>G	SNV Germline	Chr9:97693761	Likely pathogenic	Condition: not provided Xeroderma pigmentosum group A	Criteria Provided Multiple Submitters No Conflicts	CA374188324	rs_1468099690	2 SubmittersRCV003717029 RCV004573252
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)	SNV Germline	Chr16:13920313	Pathogenic	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Single Submitter	CA394816321	rs_2543161364	1 SubmittersRCV003797867
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)	SNV Germline	Chr16:13930773	Pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome	Criteria Provided Single Submitter	CA7910293	rs_750971687	1 SubmittersRCV003781269
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)	SNV Germline	Chr16:13935308	Pathogenic/Likely pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Condition: not provided XFE progeroid syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Multiple Submitters No Conflicts	CA7910452	rs_201179693	3 SubmittersRCV003781677 RCV005242434 RCV005014966
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)	SNV Germline	Chr16:13937856	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q XFE progeroid syndrome	Criteria Provided Conflicting Classifications	CA7910587	rs_749634352	2 SubmittersRCV003788402 RCV004784178
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)	SNV Germline	Chr16:13930803	Pathogenic	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Single Submitter	CA7910296	rs_753149023	1 SubmittersRCV003792676
NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)	SNV Germline	Chr13:102852234	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group G Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA388566955	rs_1882232971	3 SubmittersRCV003988755 RCV004780694 RCV004798985
NM_004628.5(XPC):c.856A>T (p.Arg286Ter)	SNV Germline	Chr3:14164857	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter	CA351541716	rs_2470278370	1 SubmittersRCV003988964
NM_000380.4(XPA):c.283+1G>A	SNV Unknown	Chr9:97693648	Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter		rs_2490237527	1 SubmittersRCV004573877
NM_000380.4(XPA):c.389+1G>T	SNV Unknown	Chr9:97689533	Pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter		rs_1554701931	1 SubmittersRCV004573878
NM_004628.5(XPC):c.2115+1G>C	SNV Unknown	Chr3:14152334	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter		rs_2470237973	1 SubmittersRCV004573879
NM_004628.5(XPC):c.2605-2A>G	SNV Unknown	Chr3:14146161	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter		rs_1553604251	1 SubmittersRCV004573883
NM_004628.5(XPC):c.1399C>T (p.Gln467Ter)	SNV Unknown	Chr3:14158484	Pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter		rs_2470258893	1 SubmittersRCV004573885
NM_004628.5(XPC):c.780-2A>G	SNV Unknown	Chr3:14164935	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter		rs_1696314718	1 SubmittersRCV004573886
NM_004628.5(XPC):c.2034-2A>G	SNV Unknown	Chr3:14152418	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter		rs_2470238559	1 SubmittersRCV004573887
NM_004628.5(XPC):c.155C>G (p.Ser52Ter)	SNV Unknown	Chr3:14173011	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter		rs_1696675107	1 SubmittersRCV004573888
NM_000400.4(ERCC2):c.570C>A (p.Cys190Ter)	SNV Germline	Chr19:45364862	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive	Criteria Provided Multiple Submitters No Conflicts		rs_2514033921	3 SubmittersRCV005101926 RCV004576377 RCV005023578
NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)	SNV Germline	Chr19:45355676	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts		rs_772572683	3 SubmittersRCV005023579 RCV004576392 RCV004587649
NM_000122.2(ERCC3):c.760C>T (p.Gln254Ter)	SNV Germline	Chr2:127289399	Pathogenic	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_755764533	2 SubmittersRCV004595407 RCV005059596
NM_000122.2(ERCC3):c.2065-1G>C	SNV Germline	Chr2:127259449	Likely pathogenic	Xeroderma pigmentosum group B	Criteria Provided Single Submitter			1 SubmittersRCV004698744
NM_005236.3(ERCC4):c.307C>T (p.Gln103Ter)	SNV Germline	Chr16:13922130	Pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter			1 SubmittersRCV004702685
NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)	SNV Germline	Chr19:45354772	Likely pathogenic	Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004699966 RCV005017218
NM_000123.4(ERCC5):c.265-2A>G	SNV Germline	Chr13:102853755	Likely pathogenic	Cerebrooculofacioskeletal syndrome 3 Xeroderma pigmentosum, group G	Criteria Provided Single Submitter			1 SubmittersRCV004797335
NM_000123.4(ERCC5):c.265-1G>T	SNV Germline	Chr13:102853756	Likely pathogenic	Xeroderma pigmentosum, group G Cerebrooculofacioskeletal syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005005520
NM_000123.4(ERCC5):c.1924G>T (p.Glu642Ter)	SNV Germline	Chr13:102863073	Likely pathogenic	Xeroderma pigmentosum, group G Cerebrooculofacioskeletal syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005013325
NM_000123.4(ERCC5):c.2533G>T (p.Gly845Ter)	SNV Germline	Chr13:102866845	Likely pathogenic	Xeroderma pigmentosum, group G Cerebrooculofacioskeletal syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005013327
NM_000123.4(ERCC5):c.2836G>T (p.Gly946Ter)	SNV Germline	Chr13:102872355	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group G Cerebrooculofacioskeletal syndrome 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005013328 RCV005412710
NM_000400.4(ERCC2):c.1543+2T>A	SNV Germline	Chr19:45355663	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Single Submitter			1 SubmittersRCV005015782
NM_000400.4(ERCC2):c.566G>A (p.Trp189Ter)	SNV Germline	Chr19:45364866	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Single Submitter			1 SubmittersRCV005015788
NM_000400.4(ERCC2):c.2190+1G>C	SNV Germline	Chr19:45352208	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Single Submitter			1 SubmittersRCV005015778
NM_000400.4(ERCC2):c.1987T>C (p.Cys663Arg)	SNV Germline	Chr19:45352565	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Single Submitter			1 SubmittersRCV005015780
NM_005236.3(ERCC4):c.388+1G>A	SNV Germline	Chr16:13922212	Likely pathogenic	XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q	Criteria Provided Single Submitter			1 SubmittersRCV005017636
NM_005236.3(ERCC4):c.971C>G (p.Ser324Ter)	SNV Germline	Chr16:13930888	Likely pathogenic	XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q	Criteria Provided Single Submitter			1 SubmittersRCV005017640
NM_005236.3(ERCC4):c.1349G>A (p.Trp450Ter)	SNV Germline	Chr16:13935281	Pathogenic	XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q	Criteria Provided Single Submitter			1 SubmittersRCV005017641
NM_000380.4(XPA):c.68C>A (p.Ser23Ter)	SNV Germline	Chr9:97697225	Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter			1 SubmittersRCV005043498
NM_004628.5(XPC):c.2604+2T>A	SNV Germline	Chr3:14147288	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			1 SubmittersRCV005031259
NM_004628.5(XPC):c.2205C>A (p.Tyr735Ter)	SNV Germline	Chr3:14148859	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			1 SubmittersRCV005031260
NM_004628.5(XPC):c.780-1G>T	SNV Germline	Chr3:14164934	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			1 SubmittersRCV005031264
NM_004628.5(XPC):c.300-2A>G	SNV Germline	Chr3:14170552	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			1 SubmittersRCV005031265
NM_004628.5(XPC):c.103+2T>A	SNV Germline	Chr3:14178464	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			1 SubmittersRCV005035015
NM_006502.3(POLH):c.19C>T (p.Arg7Ter)	SNV Germline	Chr6:43582338	Likely pathogenic	Xeroderma pigmentosum variant type	Criteria Provided Single Submitter			1 SubmittersRCV005045697
NM_006502.3(POLH):c.788G>T (p.Gly263Val)	SNV Germline	Chr6:43603915	Likely pathogenic	Xeroderma pigmentosum variant type	Criteria Provided Single Submitter			1 SubmittersRCV005045698
NM_000380.4(XPA):c.306T>A (p.Tyr102Ter)	SNV Germline	Chr9:97689617	Likely pathogenic	Xeroderma pigmentosum group A	No Assertion Criteria Provided			1 SubmittersRCV005622300
NM_000122.2(ERCC3):c.1841C>A (p.Ser614Ter)	SNV Germline	Chr2:127271440	Pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter			1 SubmittersRCV005088602
NM_005236.3(ERCC4):c.792+1G>A	SNV Germline	Chr16:13928236	Likely pathogenic	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Single Submitter			1 SubmittersRCV005215661
NM_005236.3(ERCC4):c.891T>G (p.Tyr297Ter)	SNV Germline	Chr16:13930808	Pathogenic	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Single Submitter			1 SubmittersRCV005210613
NM_000123.4(ERCC5):c.2333T>C (p.Leu778Pro)	SNV Germline	Chr13:102866645	Likely pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter			1 SubmittersRCV005237090
NM_000400.4(ERCC2):c.1758+2T>G	SNV Germline	Chr19:45353240	Likely pathogenic	Xeroderma pigmentosum, group D	Criteria Provided Single Submitter			1 SubmittersRCV005360447
NM_004628.5(XPC):c.398G>A (p.Trp133Ter)	SNV Germline	Chr3:14170452	Pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			1 SubmittersRCV005400764
NM_000122.2(ERCC3):c.1026C>A (p.Cys342Ter)	SNV Germline	Chr2:127288661	Pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter			1 SubmittersRCV005409234
NM_005236.3(ERCC4):c.202G>T (p.Glu68Ter)	SNV Germline	Chr16:13920367	Pathogenic	Xeroderma pigmentosum, group F	No Assertion Criteria Provided			1 SubmittersRCV005622927

SNV
Germline

Chr3:14156333

Pathogenic

Xeroderma pigmentosum, group C

No Assertion Criteria Provided

CA251392

rs_794729655

1 SubmittersRCV000000281

NM_004628.5(XPC):c.1735C>T (p.Arg579Ter)

SNV
Germline

Chr3:14158148

Pathogenic

Xeroderma pigmentosum, group C
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251394

rs_121965088

8 SubmittersRCV000000283 RCV001260295 RCV001851508

NM_004628.5(XPC):c.413-9T>A

SNV
Germline

Chr3:14168389

Pathogenic

Xeroderma pigmentosum, group C

No Assertion Criteria Provided

CA251397

rs_794729656

1 SubmittersRCV000000284

NM_004628.5(XPC):c.413-24A>G

SNV
Germline

Chr3:14168404

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251398

rs_794729657

3 SubmittersRCV000000285 RCV002292452

NM_000380.4(XPA):c.323G>T (p.Cys108Phe)

SNV
Germline

Chr9:97689600

Likely pathogenic

Xeroderma pigmentosum group A
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA251648

rs_104894131

4 SubmittersRCV000001048 RCV005055500

NM_000380.4(XPA):c.682C>T (p.Arg228Ter)

SNV
Germline

Chr9:97675579

Pathogenic

Xeroderma pigmentosum group A
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251650

rs_104894132

8 SubmittersRCV000001050 RCV000781924 RCV000815514

NM_000380.4(XPA):c.619C>T (p.Arg207Ter)

SNV
Germline

Chr9:97684977

Pathogenic

Xeroderma pigmentosum group A
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA251653

rs_104894133

11 SubmittersRCV000001051 RCV000657642 RCV001420782

NM_000380.4(XPA):c.348T>A (p.Tyr116Ter)

SNV
Germline

Chr9:97689575

Pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

CA251656

rs_104894134

2 SubmittersRCV000001052

NM_000380.4(XPA):c.172+2T>G

SNV
Germline

Chr9:97697119

Pathogenic

Xeroderma pigmentosum group A

No Assertion Criteria Provided

CA374188335

rs_1587755557

1 SubmittersRCV000001053

NM_006502.3(POLH):c.916G>T (p.Glu306Ter)

SNV
Germline

Chr6:43604646

Pathogenic

Xeroderma pigmentosum variant type

No Assertion Criteria Provided

CA253638

rs_121908562

2 SubmittersRCV000006245

NM_006502.3(POLH):c.376C>T (p.Gln126Ter)

SNV
Germline

Chr6:43587375

Pathogenic

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Single Submitter

CA253641

rs_121908563

2 SubmittersRCV000006247 RCV003555934

NM_006502.3(POLH):c.1117C>T (p.Gln373Ter)

SNV
Germline

Chr6:43610596

Pathogenic

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Single Submitter

CA253644

rs_121908564

2 SubmittersRCV000006248 RCV003555935

NM_000107.3(DDB2):c.730A>G (p.Lys244Glu)

SNV
Germline

Chr11:47234784

Pathogenic

Xeroderma pigmentosum, group E

No Assertion Criteria Provided

CA254554

rs_121434639

1 SubmittersRCV000009332

NM_000107.3(DDB2):c.818G>A (p.Arg273His)

SNV
Germline

Chr11:47234872

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA254556

rs_121434640

3 SubmittersRCV000009333 RCV003555986

NM_000107.3(DDB2):c.937C>T (p.Arg313Ter)

SNV
Germline

Chr11:47235326

Pathogenic

Xeroderma pigmentosum, group E

Criteria Provided
Single Submitter

CA254558

rs_121434641

2 SubmittersRCV000009334

NM_000107.3(DDB2):c.919G>T (p.Asp307Tyr)

SNV
Germline

Chr11:47235308

Pathogenic

Xeroderma pigmentosum, group E

No Assertion Criteria Provided

CA254561

rs_121434642

1 SubmittersRCV000009335

NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter)

SNV
Germline

Chr13:102872397

Pathogenic

Xeroderma pigmentosum, group G
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257525

rs_121434570

3 SubmittersRCV000018034 RCV000587956 RCV003556039

NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val)

SNV
Germline

Chr13:102866687

Likely pathogenic

Xeroderma pigmentosum, group G
Cerebrooculofacioskeletal syndrome 3
Xeroderma pigmentosum, group G
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA257528

rs_121434571

3 SubmittersRCV000018035 RCV005007865 RCV005417434

NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter)

SNV
Germline

Chr13:102861621

Pathogenic

Xeroderma pigmentosum group G/Cockayne syndrome

No Assertion Criteria Provided

CA126677

rs_121434572

1 SubmittersRCV000018038

NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter)

SNV
Germline

Chr13:102856110

Pathogenic

Xeroderma pigmentosum group G/Cockayne syndrome

No Assertion Criteria Provided

CA126680

rs_121434573

1 SubmittersRCV000018039

NM_000123.4(ERCC5):c.215C>A (p.Pro72His)

SNV
Germline

Chr13:102852244

Pathogenic

Xeroderma pigmentosum group G/Cockayne syndrome

No Assertion Criteria Provided

CA126683

rs_121434574

1 SubmittersRCV000018040

NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro)

SNV
Germline

Chr13:102868152

Pathogenic

Xeroderma pigmentosum, group G

No Assertion Criteria Provided

CA257531

rs_121434575

1 SubmittersRCV000018041

NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter)

SNV
Germline

Chr13:102854313

Pathogenic

Xeroderma pigmentosum, group G

No Assertion Criteria Provided

CA257540

rs_121434577

1 SubmittersRCV000018046

NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)

SNV
Germline

Chr16:13947991

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
not specified
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
XFE progeroid syndrome
Condition: not provided
Breast carcinoma
Hutchinson-Gilford syndrome
Carcinoma of pancreas
Fanconi anemia complementation group Q
ERCC4-related disorder
Fanconi anemia complementation group Q
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA126686

rs_121913049

24 SubmittersRCV000018048 RCV000120808 RCV000467658 RCV000766208 RCV000415873 RCV001262417 RCV001034542 RCV001391196 RCV001787804 RCV003924841 RCV000768209 RCV002257360

NM_000122.2(ERCC3):c.2218-6C>A

SNV
Germline

Chr2:127257733

Pathogenic

Xeroderma pigmentosum group B

No Assertion Criteria Provided

CA535645771

rs_200733704

1 SubmittersRCV000018050

NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser)

SNV
Germline

Chr2:127292785

Pathogenic

Xeroderma pigmentosum group B
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive

Criteria Provided
Single Submitter

CA257543

rs_121913045

2 SubmittersRCV000018051 RCV005025066

NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)

SNV
Germline

Chr2:127286772

Pathogenic

Condition: not provided
Trichothiodystrophy 2, photosensitive
Xeroderma pigmentosum group B
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA257545

rs_121913047

6 SubmittersRCV001851900 RCV004541009 RCV000018053 RCV005025067 RCV002513092

NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter)

SNV
Germline

Chr2:127279270

Pathogenic

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Single Submitter

CA257548

rs_121913048

2 SubmittersRCV000018056 RCV005089269

NM_000122.2(ERCC3):c.471+1G>A

SNV
Germline

Chr2:127292609

Pathogenic

Xeroderma pigmentosum group B
Xeroderma pigmentosum

Criteria Provided
Single Submitter

CA348391447

rs_1558964705

2 SubmittersRCV000018057 RCV003226162

NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)

SNV
Germline

Chr19:45357368

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
not specified
Trichothiodystrophy 1, photosensitive
Condition: not provided
Xeroderma pigmentosum
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA158746

rs_121913016

12 SubmittersRCV000018267 RCV000120764 RCV000171546 RCV000897210 RCV002256001 RCV002513097

NM_000400.4(ERCC2):c.2176C>T (p.Gln726Ter)

SNV
Germline

Chr19:45352223

Pathogenic

Xeroderma pigmentosum, group D

No Assertion Criteria Provided

CA257623

rs_121913017

1 SubmittersRCV000018269

NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)

SNV
Germline

Chr19:45352226

Pathogenic/Likely pathogenic

Trichothiodystrophy 1, photosensitive
Condition: not provided
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum
Inborn genetic diseases
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA126881

rs_121913018

7 SubmittersRCV000018270 RCV001851906 RCV002490383 RCV003155035 RCV003343601 RCV003460482

NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg)

SNV
Germline

Chr19:45354774

Pathogenic

Xeroderma pigmentosum, group D

No Assertion Criteria Provided

CA257626

rs_121913019

1 SubmittersRCV000018272

NM_000400.4(ERCC2):c.335G>A (p.Arg112His)

SNV
Germline

Chr19:45368655

Pathogenic

Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Condition: not provided
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA126883

rs_121913020

6 SubmittersRCV000018274 RCV000018273 RCV000424822 RCV003466865

NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)

SNV
Germline

Chr19:45352580

Pathogenic/Likely pathogenic

Trichothiodystrophy 1, photosensitive
Condition: not provided
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2
Ovarian cancer
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA126885

rs_121913021

7 SubmittersRCV000018275 RCV002513098 RCV002482884 RCV003153304 RCV003460483

NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)

SNV
Germline

Chr19:45352802

Pathogenic/Likely pathogenic

Cerebrooculofacioskeletal syndrome 2
Condition: not provided
Xeroderma pigmentosum, group D
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA126891

rs_121913024

7 SubmittersRCV000171547 RCV001582486 RCV000018278 RCV005016278 RCV002468972

NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro)

SNV
Germline

Chr19:45357295

Pathogenic

Xeroderma pigmentosum, group D

No Assertion Criteria Provided

CA257628

rs_121913025

1 SubmittersRCV000018282

NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)

SNV
Germline

Chr19:45352235

Pathogenic

Trichothiodystrophy 1, photosensitive
Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy
Hypotrichosis simplex
ERCC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA126893

rs_121913026

16 SubmittersRCV000018283 RCV000255624 RCV000677676 RCV000763052 RCV001199920 RCV001449816 RCV004532382

NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)

SNV
Germline

Chr19:45352352

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group D
Inborn genetic diseases
Condition: not provided
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA257630

rs_41556519

8 SubmittersRCV000018284 RCV000623275 RCV000518900 RCV000763053 RCV003460484

NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp)

SNV
Germline

Chr13:102846349

Pathogenic

Xeroderma pigmentosum, group G

No Assertion Criteria Provided

CA261269

rs_267607281

1 SubmittersRCV000034376

NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys)

SNV
Germline

Chr13:102873283

Pathogenic

Xeroderma pigmentosum, group G

No Assertion Criteria Provided

CA261272

rs_267607280

1 SubmittersRCV000034377

NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)

SNV
Germline

Chr16:13947661

Likely pathogenic

Fanconi anemia complementation group Q
Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q
Condition: not provided
ERCC4-Related Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA143933

rs_149364215

5 SubmittersRCV000049245 RCV001067959 RCV005016345 RCV003144119 RCV004700343

NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg)

SNV
Germline

Chr16:13928149

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, type F/Cockayne syndrome
Condition: not provided
Xeroderma pigmentosum, group F

Criteria Provided
Multiple Submitters
No Conflicts

CA143938

rs_397509403

3 SubmittersRCV000049248 RCV001568088 RCV004814985

NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)

SNV
Germline

Chr16:13935697

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, type F/Cockayne syndrome
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
XFE progeroid syndrome
Xeroderma pigmentosum
ERCC4-related disorder
Autosomal recessive cerebellar ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA143941

rs_147105770

7 SubmittersRCV000049250 RCV000700109 RCV000762956 RCV002222373 RCV003415812 RCV005429220

NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr)

SNV
Germline

Chr11:47238177

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Xeroderma pigmentosum
Xeroderma pigmentosum, group E
DDB2-related disorder

Criteria Provided
Conflicting Classifications

CA158255

rs_143049891

9 SubmittersRCV000120630 RCV000861341 RCV002257417 RCV001102816 RCV003935146

NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys)

SNV
Germline

Chr19:45370191

Conflicting classifications of pathogenicity

not specified
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Condition: not provided
Ovarian cancer
Xeroderma pigmentosum, group D
Xeroderma pigmentosum
ERCC2-related disorder

Criteria Provided
Conflicting Classifications

CA158761

rs_147972150

8 SubmittersRCV000120770 RCV001292799 RCV001329858 RCV000893772 RCV003153388 RCV001136196 RCV002258797 RCV004542872

NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val)

SNV
Germline

Chr19:45352648

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Xeroderma pigmentosum, group D
Xeroderma pigmentosum
ERCC2-related disorder
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Conflicting Classifications

CA158767

rs_34517175

7 SubmittersRCV000120772 RCV000860939 RCV001129001 RCV002257422 RCV004542873 RCV005400425

NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)

SNV
Germline

Chr19:45352249

Pathogenic/Likely pathogenic

not specified
Condition: not provided
ERCC2-related disorder
Trichothiodystrophy 1, photosensitive
Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified
Xeroderma pigmentosum, group D
Inborn genetic diseases
Xeroderma pigmentosum
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA158773

rs_144564120

15 SubmittersRCV000120774 RCV000255243 RCV000778547 RCV001329855 RCV000761018 RCV000990227 RCV002515854 RCV003114266 RCV005025191

NM_000400.4(ERCC2):c.545C>T (p.Ala182Val)

SNV
Germline

Chr19:45364887

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group D
Hepatoblastoma
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA158809

rs_142936491

6 SubmittersRCV000120786 RCV000358437 RCV001843479 RCV000896557 RCV002256053

NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys)

SNV
Germline

Chr2:127261332

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Xeroderma pigmentosum
ERCC3-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA158821

rs_568193912

6 SubmittersRCV000120790 RCV001462857 RCV002258798 RCV003915201 RCV005328213

NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys)

SNV
Germline

Chr2:127288840

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive
Trichothiodystrophy 2, photosensitive
Xeroderma pigmentosum group B
Inborn genetic diseases
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA248735

rs_145201970

13 SubmittersRCV000120800 RCV000765502 RCV001294157 RCV001129472 RCV004019680 RCV001362006 RCV002257425

NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)

SNV
Germline

Chr16:13948141

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Inborn genetic diseases
Ovarian cancer
Xeroderma pigmentosum, group F
Xeroderma pigmentosum
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA158873

rs_374186605

7 SubmittersRCV000120810 RCV000535348 RCV002515858 RCV003153389 RCV003315749 RCV002257428 RCV002470769

NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)

SNV
Germline

Chr16:13948175

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Inborn genetic diseases
Condition: not provided
Hereditary cancer-predisposing syndrome
Xeroderma pigmentosum
Hutchinson-Gilford syndrome

Criteria Provided
Conflicting Classifications

CA158876

rs_4986933

11 SubmittersRCV000120811 RCV000476568 RCV000989535 RCV002515859 RCV004704960 RCV005251066 RCV002257429 RCV001034545

NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)

SNV
Germline

Chr16:13948330

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Condition: not provided
Xeroderma pigmentosum, group F

Criteria Provided
Conflicting Classifications

CA158885

rs_150077735

5 SubmittersRCV000120814 RCV000474309 RCV001356061 RCV003315750

NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)

SNV
Germline

Chr16:13947713

Conflicting classifications of pathogenicity

not specified
XFE progeroid syndrome
ERCC4-related disorder
Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA158888

rs_1800069

13 SubmittersRCV000120815 RCV001332584 RCV003915202 RCV001121237 RCV000463526 RCV005251067 RCV001788036 RCV002257430 RCV001354835 RCV002515860

NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)

SNV
Germline

Chr16:13922034

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA158897

rs_145315496

5 SubmittersRCV000120818 RCV001209805 RCV001543122 RCV000728799

NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)

SNV
Germline

Chr16:13934224

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Hereditary cancer-predisposing syndrome
Xeroderma pigmentosum
ERCC4-related disorder

Criteria Provided
Conflicting Classifications

CA158906

rs_1799802

12 SubmittersRCV000120821 RCV000224511 RCV001116216 RCV003224157 RCV001083882 RCV005251068 RCV002257432 RCV003925183

NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)

SNV
Germline

Chr16:13935420

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Xeroderma pigmentosum
Condition: not provided
Hutchinson-Gilford syndrome
Inborn genetic diseases
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA158912

rs_146601373

10 SubmittersRCV000120823 RCV000459235 RCV001117661 RCV002258800 RCV004704961 RCV001034544 RCV002515862 RCV005251069

NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)

SNV
Germline

Chr16:13935347

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q
Condition: not provided
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA158918

rs_572439259

5 SubmittersRCV000120825 RCV005394415 RCV005229925 RCV000651482 RCV001294104

NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)

SNV
Germline

Chr16:13935495

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q
Fanconi anemia complementation group Q
Condition: not provided
ERCC4-related disorder
Hereditary cancer-predisposing syndrome
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA158921

rs_41552412

13 SubmittersRCV000120826 RCV000343662 RCV000546465 RCV000764023 RCV001292825 RCV001355143 RCV003975071 RCV005251070 RCV002258801

NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)

SNV
Germline

Chr16:13935538

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA158933

rs_143347563

4 SubmittersRCV000120830 RCV000989533 RCV001854624 RCV004786378

NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)

SNV
Germline

Chr16:13935659

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Condition: not provided
Xeroderma pigmentosum
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q
Fanconi anemia complementation group Q
Inborn genetic diseases
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA158936

rs_1800068

14 SubmittersRCV000120831 RCV000651477 RCV001119237 RCV001357601 RCV002257433 RCV002055332 RCV001294105 RCV002515863 RCV005251071

NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu)

SNV
Germline

Chr13:102846322

Conflicting classifications of pathogenicity

not specified
Cerebrooculofacioskeletal syndrome 3
Condition: not provided
Xeroderma pigmentosum, group G
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA158939

rs_34291397

9 SubmittersRCV000120832 RCV001293875 RCV000995079 RCV001109705 RCV002517588

NM_000123.4(ERCC5):c.2890C>T (p.Arg964Trp)

SNV
Germline

Chr13:102873269

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group G
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA158962

rs_574826021

5 SubmittersRCV000120838 RCV000356768 RCV000912403 RCV002256055

NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val)

SNV
Germline

Chr13:102875698

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group G
Hereditary cancer-predisposing syndrome
ERCC5-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA158978

rs_2227871

8 SubmittersRCV000120842 RCV001112637 RCV002256057 RCV003925184 RCV000861420

NM_000123.4(ERCC5):c.2995T>G (p.Leu999Val)

SNV
Germline

Chr13:102875337

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group G
Ovarian cancer
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA159002

rs_368550097

5 SubmittersRCV000120848 RCV000312757 RCV003153390 RCV000980003 RCV002255297

NM_000123.4(ERCC5):c.592C>A (p.Pro198Thr)

SNV
Germline

Chr13:102858338

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA159018

rs_141369732

4 SubmittersRCV000120852 RCV001112453 RCV000903966

NM_000123.4(ERCC5):c.1259G>A (p.Arg420His)

SNV
Germline

Chr13:102862408

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Xeroderma pigmentosum, group G

Criteria Provided
Conflicting Classifications

CA159073

rs_143667470

6 SubmittersRCV000120866 RCV002256060 RCV000897102 RCV001109781

NM_000380.4(XPA):c.571C>G (p.Leu191Val)

SNV
Germline

Chr9:97685025

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Xeroderma pigmentosum group A

Criteria Provided
Conflicting Classifications

CA162832

rs_562768588

5 SubmittersRCV000122316 RCV000930543 RCV000665704

NM_004628.5(XPC):c.872C>G (p.Ser291Cys)

SNV
Germline

Chr3:14164841

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162901

rs_184879571

3 SubmittersRCV000122339 RCV000318203 RCV000898282

NM_004628.5(XPC):c.1177C>T (p.Arg393Trp)

SNV
Germline

Chr3:14158706

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Xeroderma pigmentosum, group C
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA162910

rs_121965090

11 SubmittersRCV000122342 RCV000998003 RCV001146474 RCV002257448

NM_004628.5(XPC):c.1780C>T (p.Arg594Cys)

SNV
Germline

Chr3:14158103

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group C
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162916

rs_183238369

7 SubmittersRCV000122344 RCV001150642 RCV002257449 RCV000861309

NM_000400.4(ERCC2):c.1119-5G>A

SNV
Germline

Chr19:45361647

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
ERCC2-related disorder
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA162980

rs_369538318

5 SubmittersRCV000122383 RCV000913781 RCV002514657 RCV004530044 RCV002256081

NM_005236.3(ERCC4):c.2017+1G>A

SNV
Germline

Chr16:13944836

Likely pathogenic

not specified
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

CA162991

rs_587777943

2 SubmittersRCV000122394 RCV005016423

NM_004628.5(XPC):c.2251-1G>C

SNV
Germline

Chr3:14148732

Pathogenic

Xeroderma pigmentosum, group C
Xeroderma pigmentosum
XPC-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274757

rs_754673606

15 SubmittersRCV000170434 RCV000590804 RCV003954993 RCV001071689

NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter)

SNV
Germline

Chr3:14158206

Pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

CA274754

rs_767569346

2 SubmittersRCV000170432

NM_004628.5(XPC):c.622-2A>C

SNV
Germline

Chr3:14165587

Pathogenic

Xeroderma pigmentosum, group C
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274753

rs_201940931

5 SubmittersRCV000170430 RCV001174681 RCV001205980

NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter)

SNV
Germline

Chr13:102875580

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group G
not specified
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA275994

rs_9514067

4 SubmittersRCV000190581 RCV002247614 RCV004017474

NM_005236.3(ERCC4):c.974-6T>C

SNV
Germline

Chr16:13932151

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
not specified
Fanconi anemia complementation group Q
Cockayne syndrome
Xeroderma pigmentosum, group F
Condition: not provided
Xeroderma pigmentosum
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA249006

rs_201181735

10 SubmittersRCV000353369 RCV000202807 RCV000964431 RCV003417735 RCV002257501 RCV005251092

NM_004628.5(XPC):c.2034-1G>A

SNV
Germline

Chr3:14152417

Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

CA353867

rs_869025275

1 SubmittersRCV000207299

NM_006502.3(POLH):c.764+1G>A

SNV
Germline

Chr6:43601092

Pathogenic/Likely pathogenic

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204515

rs_772570523

4 SubmittersRCV000208975 RCV003556267

NM_006502.3(POLH):c.907C>T (p.Arg303Ter)

SNV
Germline

Chr6:43604637

Pathogenic

Xeroderma pigmentosum variant type
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA205006

rs_759607901

3 SubmittersRCV000209179 RCV003556268 RCV005055738

NM_006502.3(POLH):c.490G>T (p.Glu164Ter)

SNV
Germline

Chr6:43587489

Pathogenic/Likely pathogenic

Xeroderma pigmentosum variant type
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3826982

rs_767433001

5 SubmittersRCV000251879 RCV001195542 RCV003556274

NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly)

SNV
Germline

Chr16:13926675

Conflicting classifications of pathogenicity

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
ERCC4-related disorder
XFE progeroid syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Conflicting Classifications

CA7910211

rs_2020961

4 SubmittersRCV000226103 RCV001294109 RCV003929973 RCV005016640

NM_006502.3(POLH):c.725C>G (p.Ser242Ter)

SNV
Germline

Chr6:43601052

Pathogenic

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Single Submitter

CA3827063

rs_745778317

2 SubmittersRCV000243669 RCV003556302

NM_000380.4(XPA):c.390-1G>C

SNV
Germline

Chr9:97687262

Pathogenic

Xeroderma pigmentosum group A
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA5148823

rs_750218942

9 SubmittersRCV000246304 RCV001063951 RCV001255518

NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)

SNV
Germline

Chr19:45352351

Pathogenic

Xeroderma pigmentosum, group D
Condition: not provided
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Inflammatory bowel disease 1
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10587999

rs_758439420

7 SubmittersRCV000248679 RCV000812198 RCV002487166 RCV004813082 RCV003463714

NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)

SNV
Germline

Chr2:127292756

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive
Xeroderma pigmentosum group B
ERCC3-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA090899

rs_34295337

15 SubmittersRCV000255849 RCV001175535 RCV000986812 RCV002487171 RCV004757184 RCV005251109

NM_004628.5(XPC):c.1894C>T (p.Gln632Ter)

SNV
Germline

Chr3:14156474

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2267331

rs_3731139

2 SubmittersRCV001172308 RCV003660775

NM_000380.4(XPA):c.553C>T (p.Gln185Ter)

SNV
Germline

Chr9:97687098

Pathogenic

Xeroderma pigmentosum group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374187268

rs_1828741490

3 SubmittersRCV001172311 RCV001386670

NM_000122.2(ERCC3):c.2112G>A (p.Ser704=)

SNV
Germline

Chr2:127259401

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA1858080

rs_114710997

4 SubmittersRCV000402887 RCV000963605 RCV002255366

NM_000122.2(ERCC3):c.618C>T (p.Ala206=)

SNV
Germline

Chr2:127289728

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858497

rs_145830873

6 SubmittersRCV000330405 RCV000896796

NM_000122.2(ERCC3):c.28+8G>A

SNV
Germline

Chr2:127294046

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10610734

rs_886054844

2 SubmittersRCV000405663 RCV002521285

NM_000122.2(ERCC3):c.1929G>T (p.Val643=)

SNV
Germline

Chr2:127271352

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858145

rs_375556869

2 SubmittersRCV000305009 RCV000908742

NM_000122.2(ERCC3):c.1371C>T (p.Ile457=)

SNV
Germline

Chr2:127280603

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858278

rs_769083884

3 SubmittersRCV000303849 RCV002255367 RCV002523083

NM_000122.2(ERCC3):c.657+15G>A

SNV
Germline

Chr2:127289674

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858482

rs_781533251

2 SubmittersRCV000294077 RCV002521283

NM_000122.2(ERCC3):c.279C>T (p.Tyr93=)

SNV
Germline

Chr2:127292802

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858572

rs_146938627

2 SubmittersRCV000407654 RCV002057569

NM_000122.2(ERCC3):c.2106G>A (p.Ala702=)

SNV
Germline

Chr2:127259407

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858081

rs_114508982

4 SubmittersRCV000301311 RCV002256207 RCV002057567

NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr)

SNV
Germline

Chr2:127259433

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided
Xeroderma pigmentosum
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive

Criteria Provided
Conflicting Classifications

CA1858090

rs_151216904

8 SubmittersRCV000404854 RCV001366056 RCV002256208 RCV005018692

NM_000122.2(ERCC3):c.1731-11T>C

SNV
Germline

Chr2:127272972

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858192

rs_746754189

2 SubmittersRCV000362103 RCV002057568

NM_000122.2(ERCC3):c.1155C>T (p.Asp385=)

SNV
Germline

Chr2:127286890

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA1858342

rs_371396764

4 SubmittersRCV000263793 RCV000908712 RCV002255368

NM_000122.2(ERCC3):c.1026C>T (p.Cys342=)

SNV
Germline

Chr2:127288661

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA1858385

rs_752026166

3 SubmittersRCV000334035 RCV002521282 RCV002257645

NM_000122.2(ERCC3):c.822+14C>T

SNV
Germline

Chr2:127289323

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858438

rs_200833462

2 SubmittersRCV000388395 RCV001464767

NM_004628.5(XPC):c.413-4A>G

SNV
Germline

Chr3:14168384

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA2267712

rs_367977379

3 SubmittersRCV000335770 RCV000905236 RCV002258881

NM_004628.5(XPC):c.1616A>G (p.Glu539Gly)

SNV
Germline

Chr3:14158267

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA2267401

rs_563236303

5 SubmittersRCV000365299 RCV000940955 RCV002257651

NM_004628.5(XPC):c.1131C>T (p.Cys377=)

SNV
Germline

Chr3:14158752

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2267503

rs_187340581

3 SubmittersRCV000284141 RCV001481011

NM_006502.3(POLH):c.2024C>A (p.Ser675Tyr)

SNV
Germline

Chr6:43614439

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided
Xeroderma pigmentosum
POLH-related disorder

Criteria Provided
Conflicting Classifications

CA3827348

rs_151095678

4 SubmittersRCV000299804 RCV000911755 RCV002258882 RCV003912527

NM_006502.3(POLH):c.491-4T>G

SNV
Germline

Chr6:43597692

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3826998

rs_185508862

3 SubmittersRCV000354571 RCV000998609

NM_006502.3(POLH):c.698A>G (p.Asn233Ser)

SNV
Germline

Chr6:43601025

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3827058

rs_61756403

4 SubmittersRCV000319612 RCV000959617

NM_006502.3(POLH):c.1266T>C (p.Leu422=)

SNV
Germline

Chr6:43613681

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3827223

rs_758340317

2 SubmittersRCV000380775 RCV003669141

NM_006502.3(POLH):c.738C>T (p.Leu246=)

SNV
Germline

Chr6:43601065

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA3827066

rs_145530456

3 SubmittersRCV000355710 RCV002524483 RCV002257656

NM_006502.3(POLH):c.1074+7T>G

SNV
Germline

Chr6:43605326

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3827170

rs_765856970

2 SubmittersRCV000294499 RCV003766053

NM_000380.4(XPA):c.390-13A>C

SNV
Germline

Chr9:97687274

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
XPA-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5148825

rs_373762653

4 SubmittersRCV000321214 RCV003957859 RCV002524578

NM_000380.4(XPA):c.731A>G (p.His244Arg)

SNV
Germline

Chr9:97675530

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group A
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA5148691

rs_144725456

5 SubmittersRCV000668335 RCV003237833 RCV005418100

NM_000107.3(DDB2):c.702+12G>A

SNV
Germline

Chr11:47234684

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5972594

rs_55847708

2 SubmittersRCV000359705 RCV002056207

NM_000107.3(DDB2):c.984G>A (p.Pro328=)

SNV
Germline

Chr11:47235373

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5972674

rs_138255134

2 SubmittersRCV000289960 RCV003391077

NM_000123.4(ERCC5):c.1917A>G (p.Glu639=)

SNV
Germline

Chr13:102863066

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7041479

rs_765554006

2 SubmittersRCV000263844 RCV000911965

NM_000123.4(ERCC5):c.3003A>G (p.Gln1001=)

SNV
Germline

Chr13:102875345

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10633798

rs_886049942

2 SubmittersRCV000367389 RCV000924684

NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val)

SNV
Germline

Chr13:102875770

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7041894

rs_376411022

3 SubmittersRCV000989162 RCV003319347

NM_005236.3(ERCC4):c.105C>T (p.Cys35=)

SNV
Germline

Chr16:13920270

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910086

rs_762885804

2 SubmittersRCV000285190 RCV002061190

NM_000107.3(DDB2):c.264+8A>G

SNV
Germline

Chr11:47216480

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group E
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA5972465

rs_374094218

3 SubmittersRCV000263888 RCV000932733 RCV002257631

NM_000107.3(DDB2):c.930C>T (p.Ser310=)

SNV
Germline

Chr11:47235319

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group E
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA5972662

rs_549041558

2 SubmittersRCV000324996 RCV002257632

NM_000123.4(ERCC5):c.442C>T (p.Pro148Ser)

SNV
Germline

Chr13:102854349

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group G
Hereditary cancer-predisposing syndrome
Cerebrooculofacioskeletal syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7041148

rs_778333931

4 SubmittersRCV000264358 RCV002256194 RCV001294161 RCV002520847

NM_000123.4(ERCC5):c.2295C>T (p.Thr765=)

SNV
Germline

Chr13:102866357

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7041584

rs_201206202

2 SubmittersRCV000343615 RCV003992274

NM_000123.4(ERCC5):c.2534-10T>G

SNV
Germline

Chr13:102868103

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group G
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7041670

rs_199562917

4 SubmittersRCV000289993 RCV002256197 RCV000861321

NM_005236.3(ERCC4):c.840G>A (p.Lys280=)

SNV
Germline

Chr16:13930757

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA10642903

rs_886051659

2 SubmittersRCV000315093 RCV002522811

NM_005236.3(ERCC4):c.1102+13G>T

SNV
Germline

Chr16:13932298

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910361

rs_199772721

2 SubmittersRCV000260868 RCV002061191

NM_005236.3(ERCC4):c.1284G>A (p.Ala428=)

SNV
Germline

Chr16:13935216

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Xeroderma pigmentosum, group F
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7910435

rs_3136151

4 SubmittersRCV000321953 RCV000529282 RCV003422265 RCV001820939

NM_000400.4(ERCC2):c.2127C>T (p.Thr709=)

SNV
Germline

Chr19:45352272

Conflicting classifications of pathogenicity

Inborn genetic diseases
Xeroderma pigmentosum, group D
Condition: not provided
ERCC2-related disorder

Criteria Provided
Conflicting Classifications

CA9512876

rs_147128863

6 SubmittersRCV002418191 RCV000390659 RCV000915697 RCV004537834

NM_000400.4(ERCC2):c.1905G>A (p.Ala635=)

SNV
Germline

Chr19:45352647

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group D
Xeroderma pigmentosum
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9512977

rs_145835916

6 SubmittersRCV000861246 RCV000990228 RCV002257644 RCV002411223

NM_000400.4(ERCC2):c.1644C>T (p.Thr548=)

SNV
Germline

Chr19:45354751

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
ERCC2-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9513175

rs_375824454

4 SubmittersRCV000272985 RCV004544596 RCV002392884 RCV002057518

NM_000400.4(ERCC2):c.183+2T>A

SNV
Germline

Chr19:45369068

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group D
Condition: not provided
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA9513899

rs_201127596

4 SubmittersRCV000260066 RCV001859951 RCV003470317

NM_000123.4(ERCC5):c.1641C>T (p.Asn547=)

SNV
Germline

Chr13:102862790

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group G
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7041447

rs_200615101

5 SubmittersRCV000317912 RCV000918496 RCV002258871

NM_000123.4(ERCC5):c.3492C>A (p.Thr1164=)

SNV
Germline

Chr13:102875834

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7041911

rs_148782406

2 SubmittersRCV000377553 RCV003326404

NM_005236.3(ERCC4):c.2199C>T (p.Ile733=)

SNV
Germline

Chr16:13947795

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910701

rs_372425414

2 SubmittersRCV000407678 RCV002522813

NM_005236.3(ERCC4):c.2292C>T (p.Ser764=)

SNV
Germline

Chr16:13947888

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Xeroderma pigmentosum, group F
not specified
Fanconi anemia complementation group Q
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910719

rs_139406689

5 SubmittersRCV000354867 RCV000863529 RCV001820940 RCV005016696 RCV005621935

NM_000400.4(ERCC2):c.1962C>T (p.Phe654=)

SNV
Germline

Chr19:45352590

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Condition: not provided
Xeroderma pigmentosum
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9512958

rs_762985501

5 SubmittersRCV000370543 RCV000931954 RCV002258877 RCV002418192

NM_000400.4(ERCC2):c.988C>T (p.Leu330=)

SNV
Germline

Chr19:45363873

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Condition: not provided
Inborn genetic diseases
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA9513552

rs_146022050

4 SubmittersRCV000318853 RCV000900496 RCV002379214 RCV002256205

NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)

SNV
Germline

Chr19:45352801

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group D
Condition: not provided
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Inborn genetic diseases
Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA9513025

rs_376556895

11 SubmittersRCV000312948 RCV000489442 RCV000763054 RCV002523070 RCV001195426 RCV003470315

NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr)

SNV
Germline

Chr19:45364274

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D

Criteria Provided
Multiple Submitters
No Conflicts

CA9513634

rs_370454709

5 SubmittersRCV000435999 RCV002256206 RCV003470316 RCV005025467

NM_000400.4(ERCC2):c.2142C>G (p.Val714=)

SNV
Germline

Chr19:45352257

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9512871

rs_546902024

4 SubmittersRCV000300493 RCV002429293 RCV002057517

NM_000400.4(ERCC2):c.1404C>T (p.Pro468=)

SNV
Germline

Chr19:45357345

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10652530

rs_886054497

3 SubmittersRCV000363853 RCV003168490 RCV003727685

NM_000400.4(ERCC2):c.950-13C>A

SNV
Germline

Chr19:45363924

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10652536

rs_886054498

2 SubmittersRCV000375762 RCV003698769

NM_000400.4(ERCC2):c.949+9C>T

SNV
Germline

Chr19:45363977

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
ERCC2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9513571

rs_529824119

3 SubmittersRCV000279128 RCV004544597 RCV000915640

NM_005236.3(ERCC4):c.241G>A (p.Val81Ile)

SNV
Germline

Chr16:13922064

Conflicting classifications of pathogenicity

Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910134

rs_55761944

3 SubmittersRCV000473210 RCV002496767 RCV004822054

NM_000400.4(ERCC2):c.1666-2A>T

SNV
Germline

Chr19:45353336

Pathogenic/Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D

Criteria Provided
Multiple Submitters
No Conflicts

CA16620862

rs_199658345

4 SubmittersRCV000479437 RCV003470562 RCV005018808

NM_000380.4(XPA):c.323G>A (p.Cys108Tyr)

SNV
Germline

Chr9:97689600

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum group A
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA374187825

rs_104894131

6 SubmittersRCV000492893 RCV000672811 RCV004586740

NM_005236.3(ERCC4):c.471A>G (p.Lys157=)

SNV
Germline

Chr16:13926643

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910208

rs_3136092

2 SubmittersRCV000499897 RCV002060112

NM_005236.3(ERCC4):c.2427G>A (p.Thr809=)

SNV
Germline

Chr16:13948023

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910736

rs_2020960

2 SubmittersRCV000503360 RCV000651480

NM_004628.5(XPC):c.1243C>T (p.Arg415Ter)

SNV
Germline

Chr3:14158640

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA2267485

rs_757958943

8 SubmittersRCV000505517 RCV001090469 RCV001175486

NM_005236.3(ERCC4):c.228G>A (p.Leu76=)

SNV
Germline

Chr16:13922051

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Xeroderma pigmentosum, group F
Xeroderma pigmentosum
ERCC4-related disorder

Criteria Provided
Conflicting Classifications

CA7910129

rs_61760162

4 SubmittersRCV000560297 RCV001116102 RCV002257838 RCV003900232

NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr)

SNV
Germline

Chr16:13922148

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Xeroderma pigmentosum
not specified
Xeroderma pigmentosum, group F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910153

rs_148791570

5 SubmittersRCV000547965 RCV002257839 RCV001821617 RCV001117537 RCV001569666

NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe)

SNV
Germline

Chr16:13932214

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910342

rs_145851520

2 SubmittersRCV000540520 RCV001292941

NM_004628.5(XPC):c.463C>T (p.Arg155Ter)

SNV
Germline

Chr3:14168330

Pathogenic

Xeroderma pigmentosum
Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA2267705

rs_755825264

4 SubmittersRCV000587243 RCV000821094 RCV002497239

NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)

SNV
Germline

Chr3:14152376

Pathogenic

Xeroderma pigmentosum
Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2267274

rs_374117852

4 SubmittersRCV000589424 RCV000666668 RCV001390105

NM_000122.2(ERCC3):c.658-7C>G

SNV
Germline

Chr2:127289508

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA1858466

rs_200361738

4 SubmittersRCV000612099 RCV001480670 RCV002256408

NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter)

SNV
Germline

Chr13:102866665

Likely pathogenic

Xeroderma pigmentosum, group G

Criteria Provided
Single Submitter

CA388576262

rs_1244074570

2 SubmittersRCV000625479

NM_005236.3(ERCC4):c.1812-5T>C

SNV
Germline

Chr16:13937761

Conflicting classifications of pathogenicity

Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Xeroderma pigmentosum
Condition: not provided
Inborn genetic diseases
ERCC4-related disorder

Criteria Provided
Conflicting Classifications

CA7910562

rs_2020952

8 SubmittersRCV000651479 RCV001788310 RCV000989534 RCV002257913 RCV005231238 RCV002531975 RCV003965394

NM_005236.3(ERCC4):c.714G>A (p.Lys238=)

SNV
Germline

Chr16:13928157

Conflicting classifications of pathogenicity

Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910255

rs_780166871

2 SubmittersRCV000651473 RCV004692038

NM_000400.4(ERCC2):c.601C>T (p.His201Tyr)

SNV
Germline

Chr19:45364541

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group D
Xeroderma pigmentosum
ERCC2-related disorder

Criteria Provided
Conflicting Classifications

CA9513702

rs_1799792

8 SubmittersRCV000658844 RCV001131818 RCV002257921 RCV004544916

NM_004628.5(XPC):c.2033+5G>A

SNV
Germline

Chr3:14156330

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2267299

rs_374329989

3 SubmittersRCV000669856 RCV004692065

NM_004628.5(XPC):c.779+1G>A

SNV
Germline

Chr3:14165427

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA69758674

rs_975121308

3 SubmittersRCV000671425 RCV003558514

NM_004628.5(XPC):c.2116-1G>A

SNV
Unknown

Chr3:14148949

Likely pathogenic

Xeroderma pigmentosum, group C

No Assertion Criteria Provided

CA351538295

rs_1553604620

1 SubmittersRCV000667696

NM_004628.5(XPC):c.2101G>T (p.Glu701Ter)

SNV
Unknown

Chr3:14152349

Likely pathogenic

Xeroderma pigmentosum, group C

No Assertion Criteria Provided

CA351538337

rs_1553605023

1 SubmittersRCV000673420

NM_004628.5(XPC):c.622-2A>G

SNV
Germline

Chr3:14165587

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351542228

rs_201940931

7 SubmittersRCV000664737 RCV001529516

NM_004628.5(XPC):c.2317C>T (p.Gln773Ter)

SNV
Germline

Chr3:14148665

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Single Submitter

CA351537856

rs_1281090187

2 SubmittersRCV000665464 RCV002530657

NM_004628.5(XPC):c.2218G>T (p.Glu740Ter)

SNV
Germline

Chr3:14148846

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351538080

rs_770308917

4 SubmittersRCV000673240 RCV000797367

NM_004628.5(XPC):c.103+1G>A

SNV
Germline

Chr3:14178465

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351543560

rs_1423398589

3 SubmittersRCV000668920 RCV001868226

NM_004628.5(XPC):c.2251-2A>G

SNV
Germline

Chr3:14148733

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Single Submitter

CA351538002

rs_1553604570

2 SubmittersRCV000674481 RCV003660830

NM_004628.5(XPC):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:14178568

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2267848

rs_763678756

5 SubmittersRCV000666438 RCV002509495 RCV001861752

NM_004628.5(XPC):c.1381G>T (p.Glu461Ter)

SNV
Unknown

Chr3:14158502

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

CA69753225

rs_754197041

2 SubmittersRCV000667716

NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)

SNV
Germline

Chr3:14148912

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA69742495

rs_754775337

6 SubmittersRCV000666559 RCV001532474 RCV001280679

NM_004628.5(XPC):c.877C>T (p.Arg293Ter)

SNV
Germline

Chr3:14164836

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA2267576

rs_373519125

4 SubmittersRCV000670127 RCV002531245 RCV003403557

NM_004628.5(XPC):c.739C>T (p.Arg247Ter)

SNV
Germline

Chr3:14165468

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2267613

rs_764321665

4 SubmittersRCV000672294 RCV001048861

NM_004628.5(XPC):c.537-1G>C

SNV
Germline

Chr3:14167254

Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351542430

rs_1326646197

3 SubmittersRCV000673738 RCV001855602

NM_004628.5(XPC):c.2033+1G>A

SNV
Germline

Chr3:14156334

Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA2267302

rs_764480429

4 SubmittersRCV000674407 RCV001225610 RCV003235341

NM_004628.5(XPC):c.1564A>T (p.Lys522Ter)

SNV
Germline

Chr3:14158319

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Single Submitter

CA2267409

rs_746250060

2 SubmittersRCV000664538 RCV002532032

NM_004628.5(XPC):c.299+1G>A

SNV
Germline

Chr3:14172866

Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351542988

rs_1553607744

4 SubmittersRCV000666590 RCV000805953

NM_004628.5(XPC):c.103+2T>G

SNV
Germline

Chr3:14178464

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Single Submitter

CA351543555

rs_1553608616

2 SubmittersRCV000670023 RCV003767980

NM_004628.5(XPC):c.991-2A>G

SNV
Unknown

Chr3:14158894

Likely pathogenic

Xeroderma pigmentosum, group C

No Assertion Criteria Provided

CA351541326

rs_1553605894

1 SubmittersRCV000671134

NM_004628.5(XPC):c.958C>T (p.Gln320Ter)

SNV
Germline

Chr3:14159773

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA69754557

rs_867461743

3 SubmittersRCV000666370 RCV001241797

NM_004628.5(XPC):c.779+1G>T

SNV
Germline

Chr3:14165427

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA69758666

rs_975121308

4 SubmittersRCV000670600 RCV000806741

NM_004628.5(XPC):c.658C>T (p.Arg220Ter)

SNV
Germline

Chr3:14165549

Pathogenic

Xeroderma pigmentosum, group C
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2267625

rs_745679643

4 SubmittersRCV000664637 RCV001201195 RCV001385310

NM_004628.5(XPC):c.55C>T (p.Gln19Ter)

SNV
Germline

Chr3:14178514

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351543783

rs_1553608637

4 SubmittersRCV000666399 RCV001038115

NM_004628.5(XPC):c.1A>T (p.Met1Leu)

SNV
Germline

Chr3:14178568

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Single Submitter

CA351543954

rs_763678756

2 SubmittersRCV000671101 RCV003669168

NM_000380.4(XPA):c.599T>G (p.Leu200Ter)

SNV
Unknown

Chr9:97684997

Likely pathogenic

Xeroderma pigmentosum group A

No Assertion Criteria Provided

CA374187069

rs_755803064

1 SubmittersRCV000674552

NM_000380.4(XPA):c.673+2T>C

SNV
Unknown

Chr9:97684921

Likely pathogenic

Xeroderma pigmentosum group A

No Assertion Criteria Provided

CA196750291

rs_1019535182

1 SubmittersRCV000674401

NM_000380.4(XPA):c.646C>T (p.Gln216Ter)

SNV
Germline

Chr9:97684950

Pathogenic/Likely pathogenic

Xeroderma pigmentosum group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5148772

rs_761978351

5 SubmittersRCV000669338 RCV001855518

NM_000380.4(XPA):c.631C>T (p.Arg211Ter)

SNV
Germline

Chr9:97684965

Pathogenic/Likely pathogenic

Xeroderma pigmentosum group A
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA5148774

rs_149226993

6 SubmittersRCV000666956 RCV001045901 RCV000781923

NM_000380.4(XPA):c.555+2T>A

SNV
Unknown

Chr9:97687094

Likely pathogenic

Xeroderma pigmentosum group A

No Assertion Criteria Provided

CA374187261

rs_1554701478

1 SubmittersRCV000668662

NM_000380.4(XPA):c.555+1G>A

SNV
Unknown

Chr9:97687095

Likely pathogenic

Xeroderma pigmentosum group A

No Assertion Criteria Provided

CA374187264

rs_1554701481

1 SubmittersRCV000670923

NM_000380.4(XPA):c.555G>C (p.Gln185His)

SNV
Germline

Chr9:97687096

Pathogenic/Likely pathogenic

Xeroderma pigmentosum group A
Xeroderma pigmentosum
Condition: not provided
XPA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA196751062

rs_746617574

6 SubmittersRCV000665444 RCV001174635 RCV001855442 RCV003403537

NM_000380.4(XPA):c.378T>G (p.Cys126Trp)

SNV
Germline

Chr9:97689545

Likely pathogenic

Xeroderma pigmentosum group A
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA374187695

rs_1451780491

3 SubmittersRCV000668799 RCV002256462

NM_000380.4(XPA):c.677T>A (p.Leu226Ter)

SNV
Germline

Chr9:97675584

Pathogenic

Xeroderma pigmentosum group A
Condition: not provided

Criteria Provided
Single Submitter

CA374185561

rs_1554699334

2 SubmittersRCV000670364 RCV001035389

NM_000380.4(XPA):c.389+1G>A

SNV
Germline

Chr9:97689533

Pathogenic

Xeroderma pigmentosum group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374187665

rs_1554701931

3 SubmittersRCV000673551 RCV003688877

NM_000380.4(XPA):c.331G>T (p.Glu111Ter)

SNV
Germline

Chr9:97689592

Pathogenic

Xeroderma pigmentosum group A
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA5148841

rs_769255883

6 SubmittersRCV000674100 RCV001230906 RCV001194216

NM_000380.4(XPA):c.172+1G>T

SNV
Unknown

Chr9:97697120

Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

CA374188338

rs_1554703119

2 SubmittersRCV000672997

NM_000380.4(XPA):c.2T>C (p.Met1Thr)

SNV
Unknown

Chr9:97697291

Likely pathogenic

Xeroderma pigmentosum group A

No Assertion Criteria Provided

CA374188668

rs_1253496792

1 SubmittersRCV000666994

NM_000380.4(XPA):c.451A>T (p.Lys151Ter)

SNV
Unknown

Chr9:97687200

Pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

CA374187512

rs_1554701532

2 SubmittersRCV000669539

NM_000380.4(XPA):c.389G>A (p.Arg130Lys)

SNV
Germline

Chr9:97689534

Likely pathogenic

Xeroderma pigmentosum group A
Xeroderma pigmentosum

Criteria Provided
Single Submitter

CA374187668

rs_1324310300

2 SubmittersRCV000666137 RCV003403540

NM_000380.4(XPA):c.235G>T (p.Glu79Ter)

SNV
Unknown

Chr9:97693697

Likely pathogenic

Xeroderma pigmentosum group A

No Assertion Criteria Provided

CA374188116

rs_1554702608

1 SubmittersRCV000671257

NM_000380.4(XPA):c.172+1G>A

SNV
Germline

Chr9:97697120

Likely pathogenic

Xeroderma pigmentosum group A
Condition: not provided

Criteria Provided
Single Submitter

CA374188340

rs_1554703119

2 SubmittersRCV000667207 RCV001855476

NM_004628.5(XPC):c.1872+1G>C

SNV
Germline

Chr3:14158010

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351538848

rs_1559374923

5 SubmittersRCV000680142 RCV003314635

NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter)

SNV
Germline

Chr2:127289763

Pathogenic

Xeroderma pigmentosum group B
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA1858507

rs_138385061

3 SubmittersRCV000770819 RCV002536615 RCV004800578

NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter)

SNV
Germline

Chr19:45368692

Pathogenic

Xeroderma pigmentosum, group D

No Assertion Criteria Provided

CA406378491

rs_964247601

1 SubmittersRCV000770817

NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter)

SNV
Germline

Chr19:45369132

Pathogenic

Xeroderma pigmentosum, group D

No Assertion Criteria Provided

CA406379637

rs_1568546252

1 SubmittersRCV000770818

NM_000400.4(ERCC2):c.184-1G>T

SNV
Germline

Chr19:45368993

Pathogenic

Xeroderma pigmentosum, group D

No Assertion Criteria Provided

CA406379304

rs_1568546120

1 SubmittersRCV000770816

NM_000400.4(ERCC2):c.816-2A>G

SNV
Germline

Chr19:45364121

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group D
Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA9513603

rs_746795177

4 SubmittersRCV000778549 RCV002535637 RCV004569485 RCV004800582

NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter)

SNV
Germline

Chr19:45365053

Pathogenic/Likely pathogenic

ERCC2-related disorder
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9513783

rs_151235136

5 SubmittersRCV000784900 RCV003461060 RCV005231325 RCV005029440 RCV003558587

NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu)

SNV
Germline

Chr16:13935719

Conflicting classifications of pathogenicity

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA7910535

rs_751782722

2 SubmittersRCV000820566 RCV003153866

NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)

SNV
Germline

Chr16:13947765

Pathogenic/Likely pathogenic

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Condition: not provided
XFE progeroid syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Multiple Submitters
No Conflicts

CA7910691

rs_2020959

4 SubmittersRCV000822020 RCV001194781 RCV005021255

NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly)

SNV
Germline

Chr16:13948019

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Ovarian cancer
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7910734

rs_746576915

3 SubmittersRCV000812059 RCV003153852 RCV003353046

NM_004628.5(XPC):c.2088G>A (p.Val696=)

SNV
Germline

Chr3:14152362

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group C
Xeroderma pigmentosum
XPC-related disorder

Criteria Provided
Conflicting Classifications

CA2267272

rs_182189497

5 SubmittersRCV000861308 RCV001146339 RCV002258001 RCV003965637

NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)

SNV
Germline

Chr16:13926675

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Fanconi anemia complementation group Q
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910210

rs_2020961

4 SubmittersRCV000862022 RCV001292967 RCV002536230 RCV005231406

NM_000122.2(ERCC3):c.2218-5G>A

SNV
Germline

Chr2:127257732

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum group B
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA1858035

rs_201054106

3 SubmittersRCV000860911 RCV001132081 RCV002255546

NM_000107.3(DDB2):c.127+5T>G

SNV
Germline

Chr11:47215268

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group E
not specified
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA5972408

rs_199965459

5 SubmittersRCV000860803 RCV001104634 RCV001579936 RCV002257998

NM_000107.3(DDB2):c.511C>G (p.Gln171Glu)

SNV
Germline

Chr11:47232868

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group E

Criteria Provided
Conflicting Classifications

CA5972543

rs_201703288

2 SubmittersRCV000950762 RCV001293007

NM_000107.3(DDB2):c.1053T>C (p.Ile351=)

SNV
Germline

Chr11:47237866

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group E
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA5972702

rs_61741581

4 SubmittersRCV000957633 RCV001108033 RCV002256631

NM_000122.2(ERCC3):c.2226G>A (p.Arg742=)

SNV
Germline

Chr2:127257719

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum group B
Xeroderma pigmentosum
ERCC3-related disorder

Criteria Provided
Conflicting Classifications

CA1858031

rs_376593226

5 SubmittersRCV000882310 RCV001132079 RCV002259043 RCV003955848

NM_004628.5(XPC):c.2496T>C (p.Ile832=)

SNV
Germline

Chr3:14147926

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group C
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA2267121

rs_201597537

4 SubmittersRCV000884681 RCV001144433 RCV002258026

NM_000400.4(ERCC2):c.1866C>T (p.Gly622=)

SNV
Germline

Chr19:45352782

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group D
Xeroderma pigmentosum
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9513021

rs_16979773

6 SubmittersRCV000880351 RCV001129004 RCV002256581 RCV002409124

NM_000400.4(ERCC2):c.1377+8C>T

SNV
Germline

Chr19:45357466

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group D

Criteria Provided
Conflicting Classifications

CA9513331

rs_370862494

3 SubmittersRCV000880158 RCV001132706

NM_004628.5(XPC):c.2238C>T (p.Ala746=)

SNV
Germline

Chr3:14148826

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group C
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA2267228

rs_375170067

4 SubmittersRCV000905965 RCV001146336 RCV002259046

NM_004628.5(XPC):c.102G>A (p.Glu34=)

SNV
Germline

Chr3:14178467

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Conflicting Classifications

CA2267822

rs_72561774

3 SubmittersRCV000895000 RCV001147509

NM_006502.3(POLH):c.1473G>A (p.Gln491=)

SNV
Germline

Chr6:43613888

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum variant type
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA3827253

rs_142864589

3 SubmittersRCV000925879 RCV001162425 RCV002258047

NM_000380.4(XPA):c.774T>A (p.Arg258=)

SNV
Germline

Chr9:97675487

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum group A

Criteria Provided
Conflicting Classifications

CA5148678

rs_746694561

2 SubmittersRCV000913206 RCV001166526

NM_000123.4(ERCC5):c.294G>A (p.Ala98=)

SNV
Germline

Chr13:102853786

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group G

Criteria Provided
Conflicting Classifications

CA7041107

rs_780506840

2 SubmittersRCV000916387 RCV001112011

NM_000123.4(ERCC5):c.2280C>T (p.Ile760=)

SNV
Germline

Chr13:102866342

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group G

Criteria Provided
Conflicting Classifications

CA7041581

rs_773823921

3 SubmittersRCV000920416 RCV001113895

NM_000400.4(ERCC2):c.1789C>T (p.Leu597=)

SNV
Germline

Chr19:45353125

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group D
Xeroderma pigmentosum
Inborn genetic diseases
ERCC2-related disorder

Criteria Provided
Conflicting Classifications

CA9513078

rs_138038607

7 SubmittersRCV000914167 RCV001131690 RCV002256596 RCV002409169 RCV004541962

NM_000400.4(ERCC2):c.552G>C (p.Gly184=)

SNV
Germline

Chr19:45364880

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group D
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9513747

rs_769750286

3 SubmittersRCV000927354 RCV001131819 RCV002346099

NM_004628.5(XPC):c.2250+6G>A

SNV
Germline

Chr3:14148808

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group C
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA2267222

rs_201446851

3 SubmittersRCV000914044 RCV001146335 RCV002258039

NM_000400.4(ERCC2):c.1378-8C>T

SNV
Germline

Chr19:45357379

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA9513309

rs_558250151

3 SubmittersRCV000917756 RCV002256598

NM_004628.5(XPC):c.1509C>T (p.Ser503=)

SNV
Germline

Chr3:14158374

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group C
Xeroderma pigmentosum
not specified

Criteria Provided
Conflicting Classifications

CA2267420

rs_760867012

5 SubmittersRCV000933789 RCV001144543 RCV002259058 RCV005436356

NM_004628.5(XPC):c.203A>T (p.Asp68Val)

SNV
Germline

Chr3:14172963

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Conflicting Classifications

CA2267778

rs_56012223

2 SubmittersRCV000940509 RCV001292834

NM_000380.4(XPA):c.234A>G (p.Glu78=)

SNV
Germline

Chr9:97693698

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum
XPA-related disorder

Criteria Provided
Conflicting Classifications

CA5148878

rs_144543144

3 SubmittersRCV000930082 RCV002255580 RCV003933165

NM_000400.4(ERCC2):c.156G>A (p.Leu52=)

SNV
Germline

Chr19:45369097

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group D
Xeroderma pigmentosum
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9513901

rs_202156896

4 SubmittersRCV000931392 RCV001136194 RCV002258050 RCV002400043

NM_000122.2(ERCC3):c.2218-6C>T

SNV
Germline

Chr2:127257733

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum group B
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA1858036

rs_200733704

3 SubmittersRCV000935765 RCV001132082 RCV002256615

NM_000400.4(ERCC2):c.2191-4G>A

SNV
Germline

Chr19:45351725

Conflicting classifications of pathogenicity

Condition: not provided
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA9512820

rs_201840907

4 SubmittersRCV000967520 RCV001294171 RCV001135983 RCV002256635

NM_004628.5(XPC):c.1365C>T (p.Pro455=)

SNV
Germline

Chr3:14158518

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Conflicting Classifications

CA2267446

rs_753527196

2 SubmittersRCV000980736 RCV001144546

NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile)

SNV
Germline

Chr19:45357323

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum
Xeroderma pigmentosum, group D

Criteria Provided
Conflicting Classifications

CA9513295

rs_531021258

4 SubmittersRCV000978494 RCV002258075 RCV001132705

NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter)

SNV
Unknown

Chr2:127271348

Likely pathogenic

Xeroderma pigmentosum group B

Criteria Provided
Single Submitter

CA348387004

rs_1404157087

1 SubmittersRCV000986806

NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter)

SNV
Germline

Chr2:127292621

Pathogenic

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA348391475

rs_1404293670

2 SubmittersRCV000986811 RCV001858655

NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile)

SNV
Germline

Chr13:102862917

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group G
Condition: not provided
Hereditary cancer-predisposing syndrome
Cerebrooculofacioskeletal syndrome 3
ERCC5-related disorder

Criteria Provided
Conflicting Classifications

CA7041463

rs_4150318

9 SubmittersRCV000989159 RCV001579437 RCV002255601 RCV001788388 RCV003936244

NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter)

SNV
Germline

Chr2:127279315

Pathogenic/Likely pathogenic

Condition: not provided
Trichothiodystrophy 2, photosensitive
Xeroderma pigmentosum group B

Criteria Provided
Multiple Submitters
No Conflicts

CA348388639

rs_1302552127

3 SubmittersRCV000997199 RCV005029555

NM_000380.4(XPA):c.555+8A>G

SNV
Germline

Chr9:97687088

Pathogenic

Condition: not provided
Xeroderma pigmentosum
Inborn genetic diseases
Xeroderma pigmentosum group A

Criteria Provided
Multiple Submitters
No Conflicts

CA5148803

rs_756967163

5 SubmittersRCV001056570 RCV001585956 RCV002553365 RCV003467782

NM_006502.3(POLH):c.2074A>G (p.Thr692Ala)

SNV
Germline

Chr6:43614489

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum variant type
not specified

Criteria Provided
Conflicting Classifications

CA3827358

rs_199562456

5 SubmittersRCV001090592 RCV003132220 RCV003155358

NM_000107.3(DDB2):c.59G>A (p.Arg20Lys)

SNV
Germline

Chr11:47215195

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group E
Condition: not provided
Xeroderma pigmentosum
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5972396

rs_373622283

7 SubmittersRCV001104633 RCV002555028 RCV002258135 RCV002555027

NM_000123.4(ERCC5):c.3533G>A (p.Arg1178His)

SNV
Germline

Chr13:102875875

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group G
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA7041924

rs_188710607

2 SubmittersRCV001109957 RCV003153930

NM_000123.4(ERCC5):c.1955-6G>A

SNV
Germline

Chr13:102865661

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7041505

rs_371527587

2 SubmittersRCV001112551 RCV005093514

NM_005236.3(ERCC4):c.1740T>G (p.Leu580=)

SNV
Germline

Chr16:13935672

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome

Criteria Provided
Conflicting Classifications

CA278472140

rs_374556359

2 SubmittersRCV001119238 RCV002556538

NM_005236.3(ERCC4):c.2178C>T (p.Arg726=)

SNV
Germline

Chr16:13947774

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome

Criteria Provided
Conflicting Classifications

CA493689735

rs_1255618541

2 SubmittersRCV001121238 RCV001312489

NM_005236.3(ERCC4):c.2514T>C (p.Leu838=)

SNV
Germline

Chr16:13948110

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
ERCC4-related disorder
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910758

rs_200069811

3 SubmittersRCV001116323 RCV003898110 RCV002558148

NM_005236.3(ERCC4):c.973+11A>T

SNV
Germline

Chr16:13930901

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
not specified
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910316

rs_185779788

4 SubmittersRCV001121129 RCV001819831 RCV002069968 RCV003238307

NM_000122.2(ERCC3):c.1986G>A (p.Leu662=)

SNV
Germline

Chr2:127261306

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA428609430

rs_1419254389

2 SubmittersRCV001133017 RCV003769258

NM_000122.2(ERCC3):c.1911C>G (p.Ala637=)

SNV
Germline

Chr2:127271370

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA428604605

rs_1258857605

2 SubmittersRCV001133018 RCV002256688

NM_000122.2(ERCC3):c.1182C>T (p.Ser394=)

SNV
Germline

Chr2:127286863

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858338

rs_377391723

2 SubmittersRCV001136454 RCV002070587

NM_000122.2(ERCC3):c.1110T>C (p.Ser370=)

SNV
Germline

Chr2:127286935

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858353

rs_774063464

3 SubmittersRCV001129470 RCV004694815

NM_000400.4(ERCC2):c.2247G>A (p.Thr749=)

SNV
Germline

Chr19:45351665

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9512803

rs_200756227

3 SubmittersRCV001132598 RCV002418589 RCV002070546

NM_000400.4(ERCC2):c.1815C>T (p.Ser605=)

SNV
Germline

Chr19:45353099

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Xeroderma pigmentosum
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9513070

rs_368708674

5 SubmittersRCV001131687 RCV002258138 RCV002411639 RCV002070536

NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp)

SNV
Germline

Chr19:45353113

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Condition: not provided
not specified
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D

Criteria Provided
Conflicting Classifications

CA9513075

rs_753641926

7 SubmittersRCV001131689 RCV001267911 RCV002282460 RCV005400488

NM_000400.4(ERCC2):c.1725C>T (p.Ala575=)

SNV
Germline

Chr19:45353275

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
ERCC2-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9513134

rs_116544270

5 SubmittersRCV001132703 RCV004538355 RCV002402511 RCV001510707

NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)

SNV
Germline

Chr19:45357512

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Condition: not provided
Trichothiodystrophy 1, photosensitive

Criteria Provided
Conflicting Classifications

CA9513344

rs_141457460

3 SubmittersRCV001136105 RCV003405337 RCV001294169

NM_000400.4(ERCC2):c.978C>G (p.Ala326=)

SNV
Germline

Chr19:45363883

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA507821940

rs_746258199

3 SubmittersRCV001136107 RCV002375034 RCV003718354

NM_000400.4(ERCC2):c.930G>C (p.Leu310=)

SNV
Germline

Chr19:45364005

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA507821970

rs_1471014609

3 SubmittersRCV001129132 RCV002375030 RCV003769239

NM_000400.4(ERCC2):c.348T>C (p.Cys116=)

SNV
Germline

Chr19:45368642

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9513828

rs_769231981

3 SubmittersRCV001132799 RCV002451337 RCV002070548

NM_000400.4(ERCC2):c.57C>T (p.Pro19=)

SNV
Germline

Chr19:45370181

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9513947

rs_369106754

4 SubmittersRCV001136195 RCV002355119 RCV002070584

NM_000400.4(ERCC2):c.2190+11C>T

SNV
Germline

Chr19:45352198

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9512856

rs_374737560

2 SubmittersRCV001135984 RCV002070582

NM_000400.4(ERCC2):c.1307+14C>G

SNV
Germline

Chr19:45357616

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9513378

rs_368946956

2 SubmittersRCV001136106 RCV003769643

NM_004628.5(XPC):c.2412C>T (p.Ser804=)

SNV
Germline

Chr3:14148570

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2267165

rs_752120059

2 SubmittersRCV001144436 RCV001460111

NM_004628.5(XPC):c.1947G>A (p.Leu649=)

SNV
Germline

Chr3:14156421

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2267319

rs_764572758

2 SubmittersRCV001149138 RCV003769713

NM_004628.5(XPC):c.1023G>A (p.Ala341=)

SNV
Germline

Chr3:14158860

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2267515

rs_370847346

4 SubmittersRCV001146475 RCV001433313 RCV005437004

NM_004628.5(XPC):c.2251-7G>A

SNV
Germline

Chr3:14148738

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2267201

rs_756300837

2 SubmittersRCV001144438 RCV001457378

NM_004628.5(XPC):c.779+12C>G

SNV
Germline

Chr3:14165416

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2267602

rs_754591857

2 SubmittersRCV001149248 RCV003718365

NM_004628.5(XPC):c.779+11C>T

SNV
Germline

Chr3:14165417

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA2267603

rs_199838876

3 SubmittersRCV001149249 RCV002557211 RCV002258144

NM_004628.5(XPC):c.536+11G>T

SNV
Germline

Chr3:14168246

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2267686

rs_182782193

2 SubmittersRCV001150748 RCV003574846

NM_006502.3(POLH):c.229C>T (p.Leu77=)

SNV
Germline

Chr6:43583098

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum variant type

Criteria Provided
Conflicting Classifications

CA3826909

rs_199840329

2 SubmittersRCV003558732 RCV001164354

NM_006502.3(POLH):c.396A>G (p.Leu132=)

SNV
Germline

Chr6:43587395

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum variant type

Criteria Provided
Conflicting Classifications

CA450293030

rs_1449546916

2 SubmittersRCV003698847 RCV001164359

NM_006502.3(POLH):c.525C>T (p.Leu175=)

SNV
Germline

Chr6:43597730

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3827003

rs_150901869

3 SubmittersRCV001159433 RCV003558726

NM_006502.3(POLH):c.815T>C (p.Ile272Thr)

SNV
Germline

Chr6:43603942

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3827088

rs_147712217

4 SubmittersRCV001160807 RCV002258146 RCV002070990

NM_006502.3(POLH):c.1299C>A (p.Ala433=)

SNV
Germline

Chr6:43613714

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA3827230

rs_140331414

4 SubmittersRCV001162422 RCV003546668 RCV002259086

NM_006502.3(POLH):c.1406C>T (p.Ala469Val)

SNV
Germline

Chr6:43613821

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Inborn genetic diseases
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA3827242

rs_200438344

3 SubmittersRCV001162423 RCV005262257 RCV002258147

NM_006502.3(POLH):c.2031A>T (p.Val677=)

SNV
Germline

Chr6:43614446

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3827353

rs_746206386

3 SubmittersRCV001159537 RCV001594410

NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter)

SNV
Germline

Chr3:14158179

Pathogenic

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351539228

rs_1695999145

2 SubmittersRCV001192698 RCV003558747

NM_004628.5(XPC):c.1660C>T (p.Gln554Ter)

SNV
Germline

Chr3:14158223

Likely pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

CA351539874

rs_1696002966

1 SubmittersRCV001194077

NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg)

SNV
Germline

Chr13:102866725

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA255229275

rs_899478069

4 SubmittersRCV001200393 RCV001844271

NM_004628.5(XPC):c.1677C>G (p.Tyr559Ter)

SNV
Germline

Chr3:14158206

Pathogenic

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA2267390

rs_767569346

3 SubmittersRCV001214362 RCV001828707

NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys)

SNV
Germline

Chr16:13947844

Conflicting classifications of pathogenicity

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Spastic ataxia

Criteria Provided
Conflicting Classifications

CA7910710

rs_374978891

2 SubmittersRCV001211525 RCV001644951

NM_005236.3(ERCC4):c.793-2A>G

SNV
Germline

Chr16:13930708

Pathogenic

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome

Criteria Provided
Single Submitter

CA394803715

rs_2032155264

1 SubmittersRCV001212995

NM_004628.5(XPC):c.2420+2T>C

SNV
Germline

Chr3:14148560

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA2267162

rs_778987248

3 SubmittersRCV001237768 RCV003462805

NM_004628.5(XPC):c.104-2A>G

SNV
Germline

Chr3:14173064

Likely pathogenic

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA351543417

rs_1696679400

2 SubmittersRCV001233225 RCV003462792

NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)

SNV
Germline

Chr2:127280620

Pathogenic/Likely pathogenic

Condition: not provided
Trichothiodystrophy 2, photosensitive
Xeroderma pigmentosum group B
Xeroderma pigmentosum group B

Criteria Provided
Multiple Submitters
No Conflicts

CA1858281

rs_150954655

4 SubmittersRCV001871730 RCV005014332 RCV001523810

NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val)

SNV
Germline

Chr13:102866765

Pathogenic/Likely pathogenic

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7041643

rs_774078839

3 SubmittersRCV001291297 RCV001760329

NM_004628.5(XPC):c.1133G>A (p.Arg378Lys)

SNV
Germline

Chr3:14158750

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Condition: not provided
Inborn genetic diseases
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA2267501

rs_533121927

5 SubmittersRCV001292648 RCV003238336 RCV002538414 RCV002258181

NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)

SNV
Germline

Chr19:45352801

Conflicting classifications of pathogenicity

Condition: not provided
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2
ERCC2-related disorder
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Conflicting Classifications

CA308951355

rs_376556895

6 SubmittersRCV001780237 RCV001292729 RCV002256728 RCV003469508 RCV004531070 RCV005029860

NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)

SNV
Germline

Chr16:13935323

Conflicting classifications of pathogenicity

Ovarian cancer
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome

Criteria Provided
Conflicting Classifications

CA7910457

rs_780488548

3 SubmittersRCV003153976 RCV005014361 RCV001300359

NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)

SNV
Germline

Chr16:13935734

Conflicting classifications of pathogenicity

Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Xeroderma pigmentosum
Condition: not provided
not specified
Xeroderma pigmentosum, group F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7910540

rs_138532294

6 SubmittersRCV001294384 RCV002258183 RCV005051884 RCV001819982 RCV005601734 RCV005550237

NM_000122.2(ERCC3):c.1854G>A (p.Pro618=)

SNV
Germline

Chr2:127271427

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA1858154

rs_765724086

2 SubmittersRCV001326876 RCV002258204

NM_000400.4(ERCC2):c.1267G>A (p.Asp423Asn)

SNV
Germline

Chr19:45357670

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum
Inborn genetic diseases
not specified
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive

Criteria Provided
Conflicting Classifications

CA9513390

rs_143710107

7 SubmittersRCV001323801 RCV002259105 RCV002545132 RCV004800977 RCV005400502

NM_004628.5(XPC):c.780-2A>T

SNV
Germline

Chr3:14164935

Likely pathogenic

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA351541887

rs_1696314718

2 SubmittersRCV001376873 RCV004570800

NM_000400.4(ERCC2):c.595-10G>A

SNV
Germline

Chr19:45364557

Conflicting classifications of pathogenicity

Trichothiodystrophy 1, photosensitive
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA9513705

rs_761737358

3 SubmittersRCV001331198 RCV001871815 RCV003387999

NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys)

SNV
Germline

Chr19:45368656

Conflicting classifications of pathogenicity

Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
not specified
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Conflicting Classifications

CA9513829

rs_760820378

3 SubmittersRCV001329857 RCV003469559 RCV004690082 RCV005014439

NM_004628.5(XPC):c.2T>G (p.Met1Arg)

SNV
Germline

Chr3:14178567

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA2267847

rs_760324503

2 SubmittersRCV001377067 RCV004800999

NM_005236.3(ERCC4):c.1102+1G>T

SNV
Germline

Chr16:13932286

Likely pathogenic

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA394806012

rs_1314323456

2 SubmittersRCV001377820 RCV003226467

NM_004628.5(XPC):c.2544G>A (p.Trp848Ter)

SNV
Germline

Chr3:14147350

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA351537344

rs_1317050260

2 SubmittersRCV001388885 RCV005038205

NM_004628.5(XPC):c.2263G>T (p.Glu755Ter)

SNV
Germline

Chr3:14148719

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA351537978

rs_776361955

2 SubmittersRCV001383686 RCV005023141

NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)

SNV
Germline

Chr16:13920187

Pathogenic

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Single Submitter

CA394815859

rs_774510191

1 SubmittersRCV001389442

NM_004628.5(XPC):c.2116-10T>C

SNV
Germline

Chr3:14148958

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA1346951089

rs_1695570524

2 SubmittersRCV001431615 RCV002259124

NM_004628.5(XPC):c.338A>G (p.Lys113Arg)

SNV
Germline

Chr3:14170512

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA2267740

rs_560354293

2 SubmittersRCV001449341 RCV002258264

NM_005236.3(ERCC4):c.537A>G (p.Glu179=)

SNV
Germline

Chr16:13926709

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
not specified
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA7910215

rs_373408411

3 SubmittersRCV001437611 RCV001820131 RCV002258256

NM_000400.4(ERCC2):c.2010C>T (p.Gly670=)

SNV
Germline

Chr19:45352542

Likely pathogenic

Xeroderma pigmentosum, group D

Criteria Provided
Single Submitter

CA507953362

rs_754967981

1 SubmittersRCV001507019

NM_000400.4(ERCC2):c.139G>A (p.Gly47Arg)

SNV
Germline

Chr19:45369114

Pathogenic

Condition: not provided
Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA406379545

rs_1360631927

3 SubmittersRCV001531476 RCV003994304 RCV005023184

NM_000400.4(ERCC2):c.1585G>A (p.Ala529Thr)

SNV
Germline

Chr19:45354810

Conflicting classifications of pathogenicity

Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive

Criteria Provided
Conflicting Classifications

CA9513194

rs_370819591

3 SubmittersRCV001576927 RCV005014595

NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter)

SNV
Germline

Chr19:45352256

Conflicting classifications of pathogenicity

Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy
Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive

Criteria Provided
Conflicting Classifications

CA9512870

rs_774392894

5 SubmittersRCV001765013 RCV003464127 RCV005419200 RCV005014629

NM_000400.4(ERCC2):c.1377+2T>C

SNV
Germline

Chr19:45357472

Conflicting classifications of pathogenicity

Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive

Criteria Provided
Conflicting Classifications

CA9513333

rs_201505264

4 SubmittersRCV001774101 RCV003470884 RCV005014634

NM_000400.4(ERCC2):c.1726G>A (p.Glu576Lys)

SNV
Germline

Chr19:45353274

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group D

Criteria Provided
Conflicting Classifications

CA9513133

rs_201165309

3 SubmittersRCV001758572 RCV004577922

NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln)

SNV
Germline

Chr19:45365091

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9513791

rs_150000483

3 SubmittersRCV002256833 RCV002540725

NM_000400.4(ERCC2):c.1759-2A>G

SNV
Germline

Chr19:45353157

Pathogenic/Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA9513089

rs_774936846

4 SubmittersRCV003237447 RCV003470891 RCV005014652

NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter)

SNV
Germline

Chr2:127286883

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA348389868

rs_1055129064

2 SubmittersRCV001780443 RCV002478003

NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter)

SNV
Germline

Chr3:14147299

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Xeroderma pigmentosum, group C

Criteria Provided
Conflicting Classifications

CA351537240

rs_370126012

2 SubmittersRCV001797908 RCV005397020

NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly)

SNV
Germline

Chr19:45352580

Likely pathogenic

Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive

Criteria Provided
Single Submitter

CA406363209

rs_121913021

1 SubmittersRCV001799560

NM_000107.3(DDB2):c.1187C>A (p.Ser396Ter)

SNV
Germline

Chr11:47238000

Pathogenic

Xeroderma pigmentosum, group E

Criteria Provided
Single Submitter

CA5972723

rs_781655324

1 SubmittersRCV001808076

NM_006502.3(POLH):c.1561C>T (p.Gln521Ter)

SNV
Germline

Chr6:43613976

Likely pathogenic

Xeroderma pigmentosum variant type

Criteria Provided
Single Submitter

CA364266642

rs_2127821940

1 SubmittersRCV001808275

NM_000123.4(ERCC5):c.673-2A>G

SNV
Germline

Chr13:102861505

Pathogenic/Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 3
Xeroderma pigmentosum, group G

Criteria Provided
Multiple Submitters
No Conflicts

CA7041261

rs_756420203

2 SubmittersRCV001822133 RCV002503310

NM_005236.3(ERCC4):c.576G>C (p.Leu192=)

SNV
Germline

Chr16:13926748

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome

Criteria Provided
Conflicting Classifications

CA493424896

rs_2141944936

2 SubmittersRCV001820410 RCV002074332

NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)

SNV
Germline

Chr16:13926751

Pathogenic

Condition: not provided
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
ERCC4-Related Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA7910224

rs_753325454

3 SubmittersRCV001817844 RCV001869789 RCV004782796

NM_004628.5(XPC):c.2250+1G>A

SNV
Germline

Chr3:14148813

Pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

CA2267223

rs_746319045

2 SubmittersRCV002280586

NM_000122.2(ERCC3):c.657+1G>A

SNV
Germline

Chr2:127289688

Likely pathogenic

Condition: not provided
Xeroderma pigmentosum
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA1858486

rs_56116802

3 SubmittersRCV001973143 RCV002266076 RCV005025553

NM_006502.3(POLH):c.1066C>T (p.Arg356Ter)

SNV
Germline

Chr6:43605311

Pathogenic

Condition: not provided
Xeroderma pigmentosum variant type

Criteria Provided
Multiple Submitters
No Conflicts

CA3827165

rs_559497462

2 SubmittersRCV001963029 RCV003994368

NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter)

SNV
Germline

Chr16:13935183

Pathogenic

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Single Submitter

CA7910429

rs_762738968

1 SubmittersRCV001919468

NM_000400.4(ERCC2):c.442C>T (p.His148Tyr)

SNV
Germline

Chr19:45365077

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive

Criteria Provided
Conflicting Classifications

CA9513788

rs_201382232

5 SubmittersRCV001926551 RCV002222744 RCV004728951

NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)

SNV
Germline

Chr16:13920223

Pathogenic

Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

CA394816007

rs_1355878901

1 SubmittersRCV002037756

NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter)

SNV
Germline

Chr19:45357497

Pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D

Criteria Provided
Multiple Submitters
No Conflicts

CA308959192

rs_199643821

4 SubmittersRCV001942186 RCV003471163 RCV005016946

NM_004628.5(XPC):c.2010T>A (p.Cys670Ter)

SNV
Germline

Chr3:14156358

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA351538542

rs_781023624

2 SubmittersRCV001941958 RCV003464300

NM_000400.4(ERCC2):c.1480-2A>C

SNV
Germline

Chr19:45355730

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406366011

rs_1971989621

2 SubmittersRCV002050221 RCV005023282

NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val)

SNV
Germline

Chr16:13947832

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA394822651

rs_756050702

2 SubmittersRCV002034990 RCV005552438

NM_005236.3(ERCC4):c.2016C>T (p.Ala672=)

SNV
Germline

Chr16:13944834

Conflicting classifications of pathogenicity

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910637

rs_775414253

2 SubmittersRCV002015265 RCV005242145

NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter)

SNV
Germline

Chr2:127279183

Pathogenic/Likely pathogenic

Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1858212

rs_768687646

2 SubmittersRCV002507014 RCV001935189

NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter)

SNV
Germline

Chr2:127259382

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive
Xeroderma pigmentosum group B

Criteria Provided
Multiple Submitters
No Conflicts

CA1858073

rs_763315862

4 SubmittersRCV001956455 RCV002564395 RCV003136379 RCV005025533

NM_000400.4(ERCC2):c.1308-2A>G

SNV
Germline

Chr19:45357545

Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA9513353

rs_766369300

3 SubmittersRCV002021331 RCV005017086 RCV003471277

NM_000400.4(ERCC2):c.184-6C>T

SNV
Germline

Chr19:45368998

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA9513877

rs_763639137

2 SubmittersRCV002205230 RCV002258367

NM_000400.4(ERCC2):c.1832-7C>T

SNV
Germline

Chr19:45352823

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA633480443

rs_1410724947

2 SubmittersRCV002105132 RCV002256918

NM_000400.4(ERCC2):c.949+5G>A

SNV
Germline

Chr19:45363981

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA308966588

rs_899469885

3 SubmittersRCV002249939 RCV003101342

NM_006502.3(POLH):c.638C>G (p.Ser213Ter)

SNV
Germline

Chr6:43597843

Pathogenic/Likely pathogenic

Xeroderma pigmentosum variant type
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA138324767

rs_763654639

2 SubmittersRCV002250252 RCV002252782

NM_000107.3(DDB2):c.619C>T (p.Leu207=)

SNV
Germline

Chr11:47234589

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5972570

rs_753070223

2 SubmittersRCV002258481 RCV004809803

NM_000122.2(ERCC3):c.235-1G>A

SNV
Germline

Chr2:127292847

Likely pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

CA348391970

rs_1420747225

1 SubmittersRCV002257080

NM_000122.2(ERCC3):c.472-10G>A

SNV
Germline

Chr2:127290283

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858534

rs_369227601

2 SubmittersRCV002257082 RCV003101408

NM_000123.4(ERCC5):c.592C>G (p.Pro198Ala)

SNV
Germline

Chr13:102858338

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Inborn genetic diseases
Condition: not provided
Xeroderma pigmentosum, group G
Cerebrooculofacioskeletal syndrome 3

Criteria Provided
Conflicting Classifications

CA7041222

rs_141369732

4 SubmittersRCV002257092 RCV004047400 RCV003718462 RCV005002811

NM_000400.4(ERCC2):c.1666-4C>T

SNV
Germline

Chr19:45353338

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9513145

rs_761821592

2 SubmittersRCV002258538 RCV003094220

NM_004628.5(XPC):c.352A>G (p.Met118Val)

SNV
Germline

Chr3:14170498

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA69762847

rs_967577305

2 SubmittersRCV002259264 RCV003250478

NM_005236.3(ERCC4):c.2017+1G>C

SNV
Germline

Chr16:13944836

Likely pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

CA394818383

rs_587777943

1 SubmittersRCV002259275

NM_006502.3(POLH):c.1000C>G (p.Arg334Gly)

SNV
Germline

Chr6:43604730

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided
POLH-related disorder

Criteria Provided
Conflicting Classifications

CA3827136

rs_9333548

4 SubmittersRCV002258726 RCV003325597 RCV003960970

NM_000380.4(XPA):c.673+1G>A

SNV
Germline

Chr9:97684922

Likely pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

CA374186799

rs_2131393093

1 SubmittersRCV002266270

NM_000380.4(XPA):c.520C>T (p.Gln174Ter)

SNV
Germline

Chr9:97687131

Pathogenic

Xeroderma pigmentosum group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374187351

rs_2490221098

2 SubmittersRCV002289322 RCV003097777

NM_005236.3(ERCC4):c.2026G>T (p.Glu676Ter)

SNV
Germline

Chr16:13947622

Pathogenic

Xeroderma pigmentosum, group F

Criteria Provided
Single Submitter

CA394820854

rs_2141619663

1 SubmittersRCV002468705

NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)

SNV
Germline

Chr2:127286745

Pathogenic/Likely pathogenic

Xeroderma pigmentosum group B
Xeroderma pigmentosum
Condition: not provided
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA348389568

rs_1434876636

4 SubmittersRCV002472162 RCV003317611 RCV003730245 RCV005019216

NM_000400.4(ERCC2):c.1805G>A (p.Gly602Asp)

SNV
Germline

Chr19:45353109

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9513073

rs_771824813

2 SubmittersRCV004765643 RCV003064589

NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter)

SNV
Germline

Chr19:45363844

Pathogenic/Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406372750

rs_1412068236

3 SubmittersRCV003084939 RCV005028233 RCV003465963

NM_000400.4(ERCC2):c.1132C>T (p.Arg378Cys)

SNV
Germline

Chr19:45361629

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Xeroderma pigmentosum, group D

Criteria Provided
Conflicting Classifications

CA9513494

rs_186220206

3 SubmittersRCV002605879 RCV002605878 RCV003388152

NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)

SNV
Germline

Chr16:13930789

Pathogenic

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

CA278466697

rs_900093826

1 SubmittersRCV002595685

NM_000122.2(ERCC3):c.1828-1G>C

SNV
Germline

Chr2:127271454

Likely pathogenic

Condition: not provided
Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA1858160

rs_755760603

2 SubmittersRCV002622145 RCV005025908

NM_004628.5(XPC):c.1872+1G>A

SNV
Germline

Chr3:14158010

Likely pathogenic

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA351538847

rs_1559374923

2 SubmittersRCV002666746 RCV003465807

NM_004628.5(XPC):c.1969G>T (p.Glu657Ter)

SNV
Germline

Chr3:14156399

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

CA351538629

rs_759561565

1 SubmittersRCV003225860

NM_006502.3(POLH):c.1613T>C (p.Leu538Pro)

SNV
Germline

Chr6:43614028

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3827275

rs_189022924

2 SubmittersRCV003135092 RCV003730403

NM_000123.4(ERCC5):c.381-2A>G

SNV
Germline

Chr13:102854286

Likely pathogenic

Xeroderma pigmentosum, group G

No Assertion Criteria Provided

CA388568324

rs_2501536677

1 SubmittersRCV003326669

NM_005236.3(ERCC4):c.1214-1G>A

SNV
Germline

Chr16:13935145

Likely pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

CA394808760

rs_2543179894

1 SubmittersRCV003155758

NM_005236.3(ERCC4):c.100G>A (p.Val34Met)

SNV
Germline

Chr16:13920265

Conflicting classifications of pathogenicity

Ovarian cancer
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA394816150

rs_61731714

2 SubmittersRCV003154735 RCV003778920

NM_000380.4(XPA):c.674-2A>G

SNV
Germline

Chr9:97675589

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum group A

Criteria Provided
Conflicting Classifications

CA374185574

rs_1384309620

3 SubmittersRCV003226668 RCV004572885

NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter)

SNV
Germline

Chr16:13922126

Likely pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

CA394818119

rs_2141940032

1 SubmittersRCV003226760

NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)

SNV
Germline

Chr19:45368728

Pathogenic/Likely pathogenic

Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9513844

rs_748842373

3 SubmittersRCV003236423 RCV003466048 RCV003561256

NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)

SNV
Germline

Chr19:45353112

Pathogenic/Likely pathogenic

Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9513074

rs_140522180

4 SubmittersRCV003317740 RCV003459829 RCV005021903 RCV003561292

NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)

SNV
Germline

Chr3:14158129

Likely pathogenic

Xeroderma pigmentosum
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA2267372

rs_749681216

2 SubmittersRCV003332070 RCV003459839

NM_000400.4(ERCC2):c.361-1G>A

SNV
Germline

Chr19:45365159

Pathogenic

Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D

Criteria Provided
Multiple Submitters
No Conflicts

CA9513812

rs_773645934

2 SubmittersRCV003467918 RCV005030037

NM_000380.4(XPA):c.574G>T (p.Glu192Ter)

SNV
Germline

Chr9:97685022

Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Multiple Submitters
No Conflicts

CA374187165

rs_2490215392

2 SubmittersRCV003464890

NM_004628.5(XPC):c.2515A>T (p.Lys839Ter)

SNV
Unknown

Chr3:14147379

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

CA69741321

rs_765684436

1 SubmittersRCV003464893

NM_004628.5(XPC):c.1336G>T (p.Glu446Ter)

SNV
Unknown

Chr3:14158547

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

CA351540583

rs_1696028787

1 SubmittersRCV003466560

NM_004628.5(XPC):c.1102C>T (p.Gln368Ter)

SNV
Unknown

Chr3:14158781

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

CA351541083

rs_2470261046

1 SubmittersRCV003466561

NM_004628.5(XPC):c.1593G>A (p.Trp531Ter)

SNV
Unknown

Chr3:14158290

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

CA351540028

rs_2470257940

1 SubmittersRCV003464895

NM_004628.5(XPC):c.621+1G>A

SNV
Germline

Chr3:14167168

Likely pathogenic

Xeroderma pigmentosum, group C
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA351542234

rs_1399465960

2 SubmittersRCV003464896 RCV004765852

NM_004628.5(XPC):c.2421-2A>G

SNV
Unknown

Chr3:14148003

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

CA351537633

rs_2470222942

1 SubmittersRCV003466567

NM_004628.5(XPC):c.977C>G (p.Ser326Ter)

SNV
Unknown

Chr3:14159754

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

CA351541358

rs_924205965

1 SubmittersRCV003466570

NM_004628.5(XPC):c.1420C>T (p.Gln474Ter)

SNV
Germline

Chr3:14158463

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2267437

rs_776865296

3 SubmittersRCV003464899 RCV003720933

NM_006502.3(POLH):c.571A>C (p.Thr191Pro)

SNV
Germline

Chr6:43597776

Likely pathogenic

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364280655

rs_760104150

2 SubmittersRCV003479531 RCV003779188

NM_004628.5(XPC):c.991-2A>C

SNV
Germline

Chr3:14158894

Likely pathogenic

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA351541327

rs_1553605894

2 SubmittersRCV003561934 RCV004574086

NM_004628.5(XPC):c.990+1G>A

SNV
Germline

Chr3:14159740

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA351541333

rs_2470264146

2 SubmittersRCV003555030 RCV004574096

NM_000380.4(XPA):c.283G>A (p.Gly95Arg)

SNV
Germline

Chr9:97693649

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum group A
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA374187933

rs_2490237534

3 SubmittersRCV003557460 RCV004574099 RCV005063025

NM_006502.3(POLH):c.499C>T (p.Arg167Ter)

SNV
Germline

Chr6:43597704

Pathogenic

Condition: not provided
Xeroderma pigmentosum variant type

Criteria Provided
Multiple Submitters
No Conflicts

CA364280217

rs_1396889047

2 SubmittersRCV003555256 RCV003991058

NM_004628.5(XPC):c.514C>T (p.Gln172Ter)

SNV
Germline

Chr3:14168279

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA351542488

rs_778940656

2 SubmittersRCV003679492 RCV004574214

NM_000400.4(ERCC2):c.2125A>C (p.Thr709Pro)

SNV
Germline

Chr19:45352274

Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA9512879

rs_758758729

2 SubmittersRCV003725638 RCV005014903

NM_000380.4(XPA):c.173-2A>G

SNV
Germline

Chr9:97693761

Likely pathogenic

Condition: not provided
Xeroderma pigmentosum group A

Criteria Provided
Multiple Submitters
No Conflicts

CA374188324

rs_1468099690

2 SubmittersRCV003717029 RCV004573252

NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)

SNV
Germline

Chr16:13920313

Pathogenic

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Single Submitter

CA394816321

rs_2543161364

1 SubmittersRCV003797867

NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)

SNV
Germline

Chr16:13930773

Pathogenic

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome

Criteria Provided
Single Submitter

CA7910293

rs_750971687

1 SubmittersRCV003781269

NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)

SNV
Germline

Chr16:13935308

Pathogenic/Likely pathogenic

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Condition: not provided
XFE progeroid syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Multiple Submitters
No Conflicts

CA7910452

rs_201179693

3 SubmittersRCV003781677 RCV005242434 RCV005014966

NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)

SNV
Germline

Chr16:13937856

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
XFE progeroid syndrome

Criteria Provided
Conflicting Classifications

CA7910587

rs_749634352

2 SubmittersRCV003788402 RCV004784178

NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)

SNV
Germline

Chr16:13930803

Pathogenic

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Single Submitter

CA7910296

rs_753149023

1 SubmittersRCV003792676

NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)

SNV
Germline

Chr13:102852234

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group G
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA388566955

rs_1882232971

3 SubmittersRCV003988755 RCV004780694 RCV004798985

NM_004628.5(XPC):c.856A>T (p.Arg286Ter)

SNV
Germline

Chr3:14164857

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

CA351541716

rs_2470278370

1 SubmittersRCV003988964

NM_000380.4(XPA):c.283+1G>A

SNV
Unknown

Chr9:97693648

Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

rs_2490237527

1 SubmittersRCV004573877

NM_000380.4(XPA):c.389+1G>T

SNV
Unknown

Chr9:97689533

Pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

rs_1554701931

1 SubmittersRCV004573878

NM_004628.5(XPC):c.2115+1G>C

SNV
Unknown

Chr3:14152334

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

rs_2470237973

1 SubmittersRCV004573879

NM_004628.5(XPC):c.2605-2A>G

SNV
Unknown

Chr3:14146161

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

rs_1553604251

1 SubmittersRCV004573883

NM_004628.5(XPC):c.1399C>T (p.Gln467Ter)

SNV
Unknown

Chr3:14158484

Pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

rs_2470258893

1 SubmittersRCV004573885

NM_004628.5(XPC):c.780-2A>G

SNV
Unknown

Chr3:14164935

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

rs_1696314718

1 SubmittersRCV004573886

NM_004628.5(XPC):c.2034-2A>G

SNV
Unknown

Chr3:14152418

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

rs_2470238559

1 SubmittersRCV004573887

NM_004628.5(XPC):c.155C>G (p.Ser52Ter)

SNV
Unknown

Chr3:14173011

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

rs_1696675107

1 SubmittersRCV004573888

NM_000400.4(ERCC2):c.570C>A (p.Cys190Ter)

SNV
Germline

Chr19:45364862

Pathogenic/Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_2514033921

3 SubmittersRCV005101926 RCV004576377 RCV005023578

NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)

SNV
Germline

Chr19:45355676

Pathogenic/Likely pathogenic

Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

rs_772572683

3 SubmittersRCV005023579 RCV004576392 RCV004587649

NM_000122.2(ERCC3):c.760C>T (p.Gln254Ter)

SNV
Germline

Chr2:127289399

Pathogenic

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_755764533

2 SubmittersRCV004595407 RCV005059596

NM_000122.2(ERCC3):c.2065-1G>C

SNV
Germline

Chr2:127259449

Likely pathogenic

Xeroderma pigmentosum group B

Criteria Provided
Single Submitter

1 SubmittersRCV004698744

NM_005236.3(ERCC4):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr16:13922130

Pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

1 SubmittersRCV004702685

NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)

SNV
Germline

Chr19:45354772

Likely pathogenic

Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004699966 RCV005017218

NM_000123.4(ERCC5):c.265-2A>G

SNV
Germline

Chr13:102853755

Likely pathogenic

Cerebrooculofacioskeletal syndrome 3
Xeroderma pigmentosum, group G

Criteria Provided
Single Submitter

1 SubmittersRCV004797335

NM_000123.4(ERCC5):c.265-1G>T

SNV
Germline

Chr13:102853756

Likely pathogenic

Xeroderma pigmentosum, group G
Cerebrooculofacioskeletal syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005005520

NM_000123.4(ERCC5):c.1924G>T (p.Glu642Ter)

SNV
Germline

Chr13:102863073

Likely pathogenic

Xeroderma pigmentosum, group G
Cerebrooculofacioskeletal syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005013325

NM_000123.4(ERCC5):c.2533G>T (p.Gly845Ter)

SNV
Germline

Chr13:102866845

Likely pathogenic

Xeroderma pigmentosum, group G
Cerebrooculofacioskeletal syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005013327

NM_000123.4(ERCC5):c.2836G>T (p.Gly946Ter)

SNV
Germline

Chr13:102872355

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group G
Cerebrooculofacioskeletal syndrome 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005013328 RCV005412710

NM_000400.4(ERCC2):c.1543+2T>A

SNV
Germline

Chr19:45355663

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive

Criteria Provided
Single Submitter

1 SubmittersRCV005015782

NM_000400.4(ERCC2):c.566G>A (p.Trp189Ter)

SNV
Germline

Chr19:45364866

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive

Criteria Provided
Single Submitter

1 SubmittersRCV005015788

NM_000400.4(ERCC2):c.2190+1G>C

SNV
Germline

Chr19:45352208

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive

Criteria Provided
Single Submitter

1 SubmittersRCV005015778

NM_000400.4(ERCC2):c.1987T>C (p.Cys663Arg)

SNV
Germline

Chr19:45352565

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive

Criteria Provided
Single Submitter

1 SubmittersRCV005015780

NM_005236.3(ERCC4):c.388+1G>A

SNV
Germline

Chr16:13922212

Likely pathogenic

XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

1 SubmittersRCV005017636

NM_005236.3(ERCC4):c.971C>G (p.Ser324Ter)

SNV
Germline

Chr16:13930888

Likely pathogenic

XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

1 SubmittersRCV005017640

NM_005236.3(ERCC4):c.1349G>A (p.Trp450Ter)

SNV
Germline

Chr16:13935281

Pathogenic

XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

1 SubmittersRCV005017641

NM_000380.4(XPA):c.68C>A (p.Ser23Ter)

SNV
Germline

Chr9:97697225

Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

1 SubmittersRCV005043498

NM_004628.5(XPC):c.2604+2T>A

SNV
Germline

Chr3:14147288

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

1 SubmittersRCV005031259

NM_004628.5(XPC):c.2205C>A (p.Tyr735Ter)

SNV
Germline

Chr3:14148859

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

1 SubmittersRCV005031260

NM_004628.5(XPC):c.780-1G>T

SNV
Germline

Chr3:14164934

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

1 SubmittersRCV005031264

NM_004628.5(XPC):c.300-2A>G

SNV
Germline

Chr3:14170552

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

1 SubmittersRCV005031265

NM_004628.5(XPC):c.103+2T>A

SNV
Germline

Chr3:14178464

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

1 SubmittersRCV005035015

NM_006502.3(POLH):c.19C>T (p.Arg7Ter)

SNV
Germline

Chr6:43582338

Likely pathogenic

Xeroderma pigmentosum variant type

Criteria Provided
Single Submitter

1 SubmittersRCV005045697

NM_006502.3(POLH):c.788G>T (p.Gly263Val)

SNV
Germline

Chr6:43603915

Likely pathogenic

Xeroderma pigmentosum variant type

Criteria Provided
Single Submitter

1 SubmittersRCV005045698

NM_000380.4(XPA):c.306T>A (p.Tyr102Ter)

SNV
Germline

Chr9:97689617

Likely pathogenic

Xeroderma pigmentosum group A

No Assertion Criteria Provided

1 SubmittersRCV005622300

NM_000122.2(ERCC3):c.1841C>A (p.Ser614Ter)

SNV
Germline

Chr2:127271440

Pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

1 SubmittersRCV005088602

NM_005236.3(ERCC4):c.792+1G>A

SNV
Germline

Chr16:13928236

Likely pathogenic

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

1 SubmittersRCV005215661

NM_005236.3(ERCC4):c.891T>G (p.Tyr297Ter)

SNV
Germline

Chr16:13930808

Pathogenic

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Single Submitter

1 SubmittersRCV005210613

NM_000123.4(ERCC5):c.2333T>C (p.Leu778Pro)

SNV
Germline

Chr13:102866645

Likely pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

1 SubmittersRCV005237090

NM_000400.4(ERCC2):c.1758+2T>G

SNV
Germline

Chr19:45353240

Likely pathogenic

Xeroderma pigmentosum, group D

Criteria Provided
Single Submitter

1 SubmittersRCV005360447

NM_004628.5(XPC):c.398G>A (p.Trp133Ter)

SNV
Germline

Chr3:14170452

Pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

1 SubmittersRCV005400764

NM_000122.2(ERCC3):c.1026C>A (p.Cys342Ter)

SNV
Germline

Chr2:127288661

Pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

1 SubmittersRCV005409234

NM_005236.3(ERCC4):c.202G>T (p.Glu68Ter)

SNV
Germline

Chr16:13920367

Pathogenic

Xeroderma pigmentosum, group F

No Assertion Criteria Provided

1 SubmittersRCV005622927