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	7 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	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group A	Criteria Provided Conflicting Classifications	CA251648	rs_104894131	3 SubmittersRCV000001048
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		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_000546.6(TP53):c.733G>A (p.Gly245Ser)	SNV Germline/somatic	Chr17:7674230	Pathogenic	Li-fraumeni-like syndrome Adenocarcinoma Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Lung adenocarcinoma Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Carcinoma of esophagus Brainstem glioma Squamous cell lung carcinoma Neoplasm of brain Gastric adenocarcinoma Pancreatic adenocarcinoma Li-Fraumeni syndrome Atypical teratoid rhabdoid tumor Astrocytoma, anaplastic Prostate adenocarcinoma Glioblastoma Neoplasm Breast neoplasm Hepatocellular carcinoma Neoplasm of the large intestine Neoplasm of ovary Familial ovarian cancer Breast carcinoma Colorectal cancer 12 conditions Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary Gastric cancer TP53-related disorder Xeroderma pigmentosum Multiple acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA000367	rs_28934575	31 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000421457 RCV000432898 RCV000442506 RCV000419767 RCV000426307 RCV000428113 RCV000438107 RCV000426990 RCV000430925 RCV000432120 RCV000437643 RCV000226657 RCV000587017 RCV000588736 RCV000417419 RCV000420452 RCV000425581 RCV000436979 RCV000438801 RCV000442529 RCV000785316 RCV001354825 RCV001642222 RCV001270274 RCV002496337 RCV003332080 RCV003460464 RCV003162245 RCV003914832 RCV004540999 RCV004526594
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.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 Condition: not provided Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F XFE progeroid syndrome Hutchinson-Gilford syndrome Breast carcinoma Carcinoma of pancreas Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q ERCC4-related disorder Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA126686	rs_121913049	23 SubmittersRCV000018048 RCV000120808 RCV000415873 RCV000467658 RCV000766208 RCV001034542 RCV001262417 RCV001391196 RCV000768209 RCV001787804 RCV003924841 RCV002257360
NM_000122.2(ERCC3):c.2218-6C>A	SNV Germline	Chr2:127257733	Pathogenic	Xeroderma pigmentosum group B	No Assertion Criteria Provided		rs_200733704	1 SubmittersRCV000018050
NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser)	SNV Germline	Chr2:127292785	Pathogenic	Xeroderma pigmentosum group B	No Assertion Criteria Provided	CA257543	rs_121913045	1 SubmittersRCV000018051
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)	SNV Germline	Chr2:127286772	Pathogenic	Xeroderma pigmentosum group B Condition: not provided Inborn genetic diseases Trichothiodystrophy 2, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA257545	rs_121913047	5 SubmittersRCV000018053 RCV001851900 RCV002513092 RCV004541009
NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter)	SNV Germline	Chr2:127279270	Pathogenic	Xeroderma pigmentosum group B	No Assertion Criteria Provided	CA257548	rs_121913048	1 SubmittersRCV000018056
NM_000122.2(ERCC3):c.471+1G>A	SNV Germline	Chr2:127292609	Pathogenic	Xeroderma pigmentosum group B Xeroderma pigmentosum	Criteria Provided Single Submitter		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 Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D 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 Ovarian cancer Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D	Criteria Provided Multiple Submitters No Conflicts	CA126885	rs_121913021	6 SubmittersRCV000018275 RCV002513098 RCV003153304 RCV003460483 RCV002482884
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)	SNV Germline	Chr19:45352802	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA126891	rs_121913024	6 SubmittersRCV000018278 RCV000171547 RCV002468972 RCV001582486
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 Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D Trichothiodystrophy Hypotrichosis simplex ERCC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA126893	rs_121913026	15 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 Condition: not provided Inborn genetic diseases Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA257630	rs_41556519	8 SubmittersRCV000018284 RCV000518900 RCV000623275 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 Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA143933	rs_149364215	3 SubmittersRCV000049245 RCV001067959 RCV003144119
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg)	SNV Germline	Chr16:13928149	Likely pathogenic	Xeroderma pigmentosum, type F/Cockayne syndrome Condition: not provided	Criteria Provided Single Submitter	CA143938	rs_397509403	2 SubmittersRCV000049248 RCV001568088
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 Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum ERCC4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA143941	rs_147105770	6 SubmittersRCV000049250 RCV000700109 RCV000762956 RCV002222373 RCV003415812
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr)	SNV Germline	Chr11:47238177	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group E Xeroderma pigmentosum DDB2-related disorder	Criteria Provided Conflicting Classifications	CA158255	rs_143049891	9 SubmittersRCV000120630 RCV000861341 RCV001102816 RCV002257417 RCV003935146
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys)	SNV Germline	Chr19:45370191	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Condition: not provided Xeroderma pigmentosum ERCC2-related disorder Ovarian cancer	Criteria Provided Conflicting Classifications	CA158761	rs_147972150	7 SubmittersRCV000120770 RCV001136196 RCV001292799 RCV001329858 RCV000893772 RCV002258797 RCV004542872 RCV003153388
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val)	SNV Germline	Chr19:45352648	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group D Condition: not provided Xeroderma pigmentosum ERCC2-related disorder	Criteria Provided Conflicting Classifications	CA158767	rs_34517175	6 SubmittersRCV000120772 RCV001129001 RCV000860939 RCV002257422 RCV004542873
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	SNV Germline	Chr19:45352249	Conflicting classifications of pathogenicity	not specified Condition: not provided ERCC2-related disorder Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158773	rs_144564120	13 SubmittersRCV000120774 RCV000255243 RCV000778547 RCV000761018 RCV001329855 RCV000990227 RCV003114266 RCV003467078 RCV002515854
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val)	SNV Germline	Chr19:45364887	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group D Condition: not provided Hepatoblastoma Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA158809	rs_142936491	6 SubmittersRCV000120786 RCV000358437 RCV000896557 RCV001843479 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	Criteria Provided Conflicting Classifications	CA158821	rs_568193912	5 SubmittersRCV000120790 RCV001462857 RCV002258798 RCV003915201
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 Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive Condition: not provided Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA248735	rs_145201970	11 SubmittersRCV000120800 RCV000765502 RCV001129472 RCV001294157 RCV001362006 RCV002257425 RCV004019680
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)	SNV Germline	Chr16:13948141	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Xeroderma pigmentosum Inborn genetic diseases Ovarian cancer Xeroderma pigmentosum, group F Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158873	rs_374186605	7 SubmittersRCV000120810 RCV000535348 RCV002257428 RCV002515858 RCV003153389 RCV003315749 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 Hutchinson-Gilford syndrome Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158876	rs_4986933	9 SubmittersRCV000120811 RCV000476568 RCV000989535 RCV001034545 RCV002257429 RCV002515859
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 Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Condition: not provided XFE progeroid syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum Inborn genetic diseases ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA158888	rs_1800069	12 SubmittersRCV000120815 RCV000463526 RCV001121237 RCV001354835 RCV001332584 RCV001788036 RCV002257430 RCV002515860 RCV003915202
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)	SNV Germline	Chr16:13922034	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158897	rs_145315496	5 SubmittersRCV000120818 RCV000728799 RCV001209805 RCV001543122
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)	SNV Germline	Chr16:13934224	Conflicting classifications of pathogenicity	not specified Condition: not provided Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Xeroderma pigmentosum Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum, group F XFE progeroid syndrome ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA158906	rs_1799802	11 SubmittersRCV000120821 RCV000224511 RCV001083882 RCV002257432 RCV001116216 RCV003224157 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 Hutchinson-Gilford syndrome Xeroderma pigmentosum, group F Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158912	rs_146601373	8 SubmittersRCV000120823 RCV000459235 RCV001034544 RCV001117661 RCV002258800 RCV002515862
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)	SNV Germline	Chr16:13935347	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158918	rs_572439259	3 SubmittersRCV000120825 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 Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Condition: not provided Xeroderma pigmentosum ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA158921	rs_41552412	12 SubmittersRCV000120826 RCV000343662 RCV000546465 RCV000764023 RCV001292825 RCV001355143 RCV002258801 RCV003975071
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 Fanconi anemia complementation group Q Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158936	rs_1800068	13 SubmittersRCV000120831 RCV000651477 RCV001119237 RCV001357601 RCV001294105 RCV002055332 RCV002257433 RCV002515863
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 Condition: not provided Hereditary cancer-predisposing syndrome ERCC5-related disorder	Criteria Provided Conflicting Classifications	CA158978	rs_2227871	8 SubmittersRCV000120842 RCV001112637 RCV000861420 RCV002256057 RCV003925184
NM_000123.4(ERCC5):c.2995T>G (p.Leu999Val)	SNV Germline	Chr13:102875337	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group G Condition: not provided Hereditary cancer-predisposing syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA159002	rs_368550097	5 SubmittersRCV000120848 RCV000312757 RCV000980003 RCV002255297 RCV003153390
NM_000123.4(ERCC5):c.592C>A (p.Pro198Thr)	SNV Germline	Chr13:102858338	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group G	Criteria Provided Conflicting Classifications	CA159018	rs_141369732	4 SubmittersRCV000120852 RCV000903966 RCV001112453
NM_000123.4(ERCC5):c.1259G>A (p.Arg420His)	SNV Germline	Chr13:102862408	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group G Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA159073	rs_143667470	6 SubmittersRCV000120866 RCV000897102 RCV001109781 RCV002256060
NM_000380.4(XPA):c.571C>G (p.Leu191Val)	SNV Germline	Chr9:97685025	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum group A Condition: not provided	Criteria Provided Conflicting Classifications	CA162832	rs_562768588	5 SubmittersRCV000122316 RCV000665704 RCV000930543
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.1780C>T (p.Arg594Cys)	SNV Germline	Chr3:14158103	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group C Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA162916	rs_183238369	5 SubmittersRCV000122344 RCV000861309 RCV001150642 RCV002257449
NM_000400.4(ERCC2):c.1119-5G>A	SNV Germline	Chr19:45361647	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum Inborn genetic diseases ERCC2-related disorder	Criteria Provided Conflicting Classifications	CA162980	rs_369538318	5 SubmittersRCV000122383 RCV000913781 RCV002256081 RCV002514657 RCV004530044
NM_004628.5(XPC):c.2251-1G>C	SNV Germline	Chr3:14148732	Pathogenic	Xeroderma pigmentosum, group C Xeroderma pigmentosum Condition: not provided XPC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274757	rs_754673606	15 SubmittersRCV000170434 RCV000590804 RCV001071689 RCV003954993
NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter)	SNV Germline	Chr3:14158206	Pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA274754	rs_767569346	2 SubmittersRCV000170432
NM_004628.5(XPC):c.622-2A>C	SNV Germline	Chr3:14165587	Pathogenic	Xeroderma pigmentosum, group C Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA274753	rs_201940931	5 SubmittersRCV000170430 RCV001205980 RCV001174681
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	3 SubmittersRCV000190581 RCV002247614 RCV004017474
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	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA204515	rs_772570523	3 SubmittersRCV000208975 RCV003556267
NM_006502.3(POLH):c.907C>T (p.Arg303Ter)	SNV Germline	Chr6:43604637	Pathogenic	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA205006	rs_759607901	2 SubmittersRCV000209179 RCV003556268
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	4 SubmittersRCV000251879 RCV001195542 RCV003556274
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly)	SNV Germline	Chr16:13926675	Conflicting classifications of pathogenicity	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA7910211	rs_2020961	3 SubmittersRCV000226103 RCV001294109 RCV003929973
NM_004628.5(XPC):c.2033+4C>T	SNV Germline	Chr3:14156331	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group C	Criteria Provided Conflicting Classifications	CA2267300	rs_753195190	2 SubmittersRCV000252347 RCV000667312
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	8 SubmittersRCV000246304 RCV001063951 RCV001255518
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	SNV Germline	Chr19:45352351	Pathogenic	Xeroderma pigmentosum, group D Condition: not provided Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA10587999	rs_758439420	5 SubmittersRCV000248679 RCV000812198 RCV003463714 RCV002487166
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	SNV Germline	Chr2:127292756	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum group B Xeroderma pigmentosum Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA090899	rs_34295337	11 SubmittersRCV000255849 RCV000986812 RCV001175535 RCV002487171
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		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		rs_1828741490	3 SubmittersRCV001172311 RCV001386670
NM_000122.2(ERCC3):c.2112G>A (p.Ser704=)	SNV Germline	Chr2:127259401	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Conflicting Classifications	CA1858080	rs_114710997	3 SubmittersRCV002255366 RCV000402887 RCV000963605
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	Condition: not provided Xeroderma pigmentosum group B Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA1858278	rs_769083884	3 SubmittersRCV002523083 RCV000303849 RCV002255367
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 Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA1858081	rs_114508982	4 SubmittersRCV000301311 RCV002057567 RCV002256207
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	Criteria Provided Conflicting Classifications	CA1858090	rs_151216904	6 SubmittersRCV000404854 RCV001366056 RCV002256208
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	Condition: not provided Xeroderma pigmentosum group B Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA1858385	rs_752026166	3 SubmittersRCV002521282 RCV000334035 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.1185G>A (p.Lys395=)	SNV Germline	Chr3:14158698	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C	Criteria Provided Conflicting Classifications	CA10615449	rs_886058051	2 SubmittersRCV000674640
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	3 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 Condition: not provided XPA-related disorder	Criteria Provided Conflicting Classifications	CA5148825	rs_373762653	3 SubmittersRCV000321214 RCV002524578 RCV003957859
NM_000380.4(XPA):c.731A>G (p.His244Arg)	SNV Germline	Chr9:97675530	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group A not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA5148691	rs_144725456	6 SubmittersRCV000668335 RCV003114519 RCV003237833
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.669A>C (p.Pro223=)	SNV Germline	Chr13:102858415	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group G ERCC5-related disorder	Criteria Provided Conflicting Classifications	CA7041230	rs_541094745	2 SubmittersRCV000279262 RCV003957613
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 Cerebrooculofacioskeletal syndrome 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7041148	rs_778333931	4 SubmittersRCV000264358 RCV001294161 RCV002256194 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 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7041670	rs_199562917	4 SubmittersRCV000289993 RCV000861321 RCV002256197
NM_005236.3(ERCC4):c.840G>A (p.Lys280=)	SNV Germline	Chr16:13930757	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F	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 Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7910435	rs_3136151	4 SubmittersRCV000321953 RCV000529282 RCV001820939 RCV003422265
NM_000400.4(ERCC2):c.2127C>T (p.Thr709=)	SNV Germline	Chr19:45352272	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided ERCC2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9512876	rs_147128863	6 SubmittersRCV000390659 RCV000915697 RCV004537834 RCV002418191
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 Condition: not provided Inborn genetic diseases ERCC2-related disorder	Criteria Provided Conflicting Classifications	CA9513175	rs_375824454	4 SubmittersRCV000272985 RCV002057518 RCV002392884 RCV004544596
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	5 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 Cockayne syndrome Xeroderma pigmentosum, group F 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 Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q not specified	Criteria Provided Conflicting Classifications	CA7910719	rs_139406689	3 SubmittersRCV000354867 RCV000863529 RCV001820940
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 Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9513552	rs_146022050	4 SubmittersRCV000318853 RCV000900496 RCV002256205 RCV002379214
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	SNV Germline	Chr19:45352801	Pathogenic	Xeroderma pigmentosum, group D Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum Inborn genetic diseases Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA9513025	rs_376556895	11 SubmittersRCV000312948 RCV000489442 RCV000763054 RCV001195426 RCV002523070 RCV003470315
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr)	SNV Germline	Chr19:45364274	Likely pathogenic	ERCC2-related disorder Condition: not provided Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA9513634	rs_370454709	5 SubmittersRCV000349442 RCV000435999 RCV002256206 RCV003470316
NM_000400.4(ERCC2):c.2142C>G (p.Val714=)	SNV Germline	Chr19:45352257	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9512871	rs_546902024	4 SubmittersRCV000300493 RCV002057517 RCV002429293
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	Condition: not provided Xeroderma pigmentosum, group D	Criteria Provided Conflicting Classifications	CA10652536	rs_886054498	2 SubmittersRCV003698769 RCV000375762
NM_000400.4(ERCC2):c.949+9C>T	SNV Germline	Chr19:45363977	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided ERCC2-related disorder	Criteria Provided Conflicting Classifications	CA9513571	rs_529824119	3 SubmittersRCV000279128 RCV000915640 RCV004544597
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile)	SNV Germline	Chr16:13922064	Conflicting classifications of pathogenicity	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F	Criteria Provided Conflicting Classifications	CA7910134	rs_55761944	2 SubmittersRCV000473210 RCV002496767
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr)	SNV Germline	Chr9:97689600	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum group A	Criteria Provided Conflicting Classifications	CA374187825	rs_104894131	3 SubmittersRCV000492893 RCV000672811
NM_005236.3(ERCC4):c.471A>G (p.Lys157=)	SNV Germline	Chr16:13926643	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F	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 Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F	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 Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2267485	rs_757958943	7 SubmittersRCV000505517 RCV001175486 RCV001090469
NM_005236.3(ERCC4):c.228G>A (p.Leu76=)	SNV Germline	Chr16:13922051	Conflicting classifications of pathogenicity	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q 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	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Condition: not provided not specified Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA7910153	rs_148791570	5 SubmittersRCV000547965 RCV001117537 RCV001569666 RCV001821617 RCV002257839
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe)	SNV Germline	Chr16:13932214	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q 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 Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts	CA2267274	rs_374117852	4 SubmittersRCV000589424 RCV001390105 RCV000666668
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	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum Inborn genetic diseases ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA7910562	rs_2020952	7 SubmittersRCV000651479 RCV000989534 RCV001788310 RCV002257913 RCV002531975 RCV003965394
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		rs_1799792	8 SubmittersRCV000658844 RCV001131818 RCV002257921 RCV004544916
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		rs_975121308	3 SubmittersRCV000671425 RCV003558514
NM_004628.5(XPC):c.2116-1G>A	SNV Unknown	Chr3:14148949	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter		rs_1553604620	1 SubmittersRCV000667696
NM_004628.5(XPC):c.2101G>T (p.Glu701Ter)	SNV Unknown	Chr3:14152349	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter		rs_1553605023	1 SubmittersRCV000673420
NM_004628.5(XPC):c.622-2A>G	SNV Germline	Chr3:14165587	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_201940931	7 SubmittersRCV000664737 RCV001529516
NM_004628.5(XPC):c.2317C>T (p.Gln773Ter)	SNV Germline	Chr3:14148665	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		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		rs_770308917	3 SubmittersRCV000673240 RCV000797367
NM_004628.5(XPC):c.103+1G>A	SNV Germline	Chr3:14178465	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1423398589	3 SubmittersRCV000668920 RCV001868226
NM_004628.5(XPC):c.2251-2A>G	SNV Germline	Chr3:14148733	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		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 Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		rs_763678756	4 SubmittersRCV000666438 RCV001861752 RCV002509495
NM_004628.5(XPC):c.1381G>T (p.Glu461Ter)	SNV Unknown	Chr3:14158502	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts		rs_754197041	2 SubmittersRCV000667716
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)	SNV Germline	Chr3:14148912	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts		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		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		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		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		rs_764480429	4 SubmittersRCV000674407 RCV001225610 RCV003235341
NM_004628.5(XPC):c.1564A>T (p.Lys522Ter)	SNV Germline	Chr3:14158319	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		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		rs_1553607744	3 SubmittersRCV000666590 RCV000805953
NM_004628.5(XPC):c.103+2T>G	SNV Germline	Chr3:14178464	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1553608616	2 SubmittersRCV000670023 RCV003767980
NM_004628.5(XPC):c.991-2A>G	SNV Unknown	Chr3:14158894	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter		rs_1553605894	1 SubmittersRCV000671134
NM_004628.5(XPC):c.958C>T (p.Gln320Ter)	SNV Germline	Chr3:14159773	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		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		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		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		rs_1553608637	3 SubmittersRCV000666399 RCV001038115
NM_004628.5(XPC):c.1A>T (p.Met1Leu)	SNV Germline	Chr3:14178568	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_763678756	2 SubmittersRCV000671101 RCV003669168
NM_000380.4(XPA):c.599T>G (p.Leu200Ter)	SNV Unknown	Chr9:97684997	Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter		rs_755803064	1 SubmittersRCV000674552
NM_000380.4(XPA):c.673+2T>C	SNV Unknown	Chr9:97684921	Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter		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		rs_761978351	4 SubmittersRCV000669338 RCV001855518
NM_000380.4(XPA):c.631C>T (p.Arg211Ter)	SNV Germline	Chr9:97684965	Pathogenic/Likely pathogenic	Xeroderma pigmentosum group A Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_149226993	5 SubmittersRCV000666956 RCV000781923 RCV001045901
NM_000380.4(XPA):c.555+2T>A	SNV Unknown	Chr9:97687094	Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter		rs_1554701478	1 SubmittersRCV000668662
NM_000380.4(XPA):c.555+1G>A	SNV Unknown	Chr9:97687095	Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter		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		rs_746617574	5 SubmittersRCV000665444 RCV001174635 RCV001855442 RCV003403537
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)	SNV Germline	Chr9:97689545	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group A Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		rs_1451780491	3 SubmittersRCV000668799 RCV002256462
NM_000380.4(XPA):c.677T>A (p.Leu226Ter)	SNV Germline	Chr9:97675584	Pathogenic/Likely pathogenic	Xeroderma pigmentosum group A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554699334	2 SubmittersRCV000670364 RCV001035389
NM_000380.4(XPA):c.389+1G>A	SNV Germline	Chr9:97689533	Pathogenic/Likely pathogenic	Xeroderma pigmentosum group A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		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		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 Multiple Submitters No Conflicts		rs_1554703119	2 SubmittersRCV000672997
NM_000380.4(XPA):c.2T>C (p.Met1Thr)	SNV Unknown	Chr9:97697291	Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter		rs_1253496792	1 SubmittersRCV000666994
NM_000380.4(XPA):c.451A>T (p.Lys151Ter)	SNV Unknown	Chr9:97687200	Pathogenic/Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Multiple Submitters No Conflicts		rs_1554701532	2 SubmittersRCV000669539
NM_000380.4(XPA):c.389G>A (p.Arg130Lys)	SNV Germline	Chr9:97689534	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group A Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		rs_1324310300	2 SubmittersRCV000666137 RCV003403540
NM_000380.4(XPA):c.235G>T (p.Glu79Ter)	SNV Unknown	Chr9:97693697	Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter		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 Multiple Submitters No Conflicts		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		rs_1559374923	4 SubmittersRCV000680142 RCV003314635
NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter)	SNV Germline	Chr2:127289763	Pathogenic	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Single Submitter		rs_138385061	2 SubmittersRCV000770819 RCV002536615
NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter)	SNV Germline	Chr19:45368692	Pathogenic	Xeroderma pigmentosum, group D	No Assertion Criteria Provided		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		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		rs_1568546120	1 SubmittersRCV000770816
NM_006502.3(POLH):c.-4-1G>C	SNV Germline	Chr6:43582315	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Conflicting Classifications		rs_1461960812	2 SubmittersRCV000778795 RCV003558582
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	Criteria Provided Multiple Submitters No Conflicts		rs_746795177	3 SubmittersRCV000778549 RCV002535637 RCV004569485
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu)	SNV Germline	Chr16:13935719	Conflicting classifications of pathogenicity	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Ovarian cancer	Criteria Provided Conflicting Classifications		rs_751782722	2 SubmittersRCV000820566 RCV003153866
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)	SNV Germline	Chr16:13947765	Pathogenic	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Condition: not provided	Criteria Provided Single Submitter		rs_2020959	2 SubmittersRCV000822020 RCV001194781
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		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		rs_182189497	4 SubmittersRCV000861308 RCV001146339 RCV002258001 RCV003965637
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)	SNV Germline	Chr16:13926675	Conflicting classifications of pathogenicity	Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_2020961	3 SubmittersRCV001292967 RCV000862022 RCV002536230
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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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	Xeroderma pigmentosum, group D Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_769750286	3 SubmittersRCV001131819 RCV000927354 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		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		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	Criteria Provided Conflicting Classifications		rs_760867012	4 SubmittersRCV000933789 RCV001144543 RCV002259058
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		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		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		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		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 Xeroderma pigmentosum, group D Xeroderma pigmentosum Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications		rs_201840907	4 SubmittersRCV000967520 RCV001135983 RCV002256635 RCV001294171
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		rs_753527196	2 SubmittersRCV000980736 RCV001144546
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile)	SNV Germline	Chr19:45357323	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		rs_531021258	4 SubmittersRCV001132705 RCV000978494 RCV002258075
NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter)	SNV Unknown	Chr2:127271348	Likely pathogenic	Xeroderma pigmentosum group B	Criteria Provided Single Submitter		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		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 Cerebrooculofacioskeletal syndrome 3 Hereditary cancer-predisposing syndrome ERCC5-related disorder	Criteria Provided Conflicting Classifications		rs_4150318	9 SubmittersRCV000989159 RCV001579437 RCV001788388 RCV002255601 RCV003936244
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		rs_756967163	4 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		rs_199562456	4 SubmittersRCV001090592 RCV003132220 RCV003155358
NM_000107.3(DDB2):c.59G>A (p.Arg20Lys)	SNV Germline	Chr11:47215195	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group E Xeroderma pigmentosum Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_373622283	5 SubmittersRCV001104633 RCV002258135 RCV002555028 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		rs_188710607	2 SubmittersRCV001109957 RCV003153930
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=)	SNV Germline	Chr16:13935672	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Conflicting Classifications		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 Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Conflicting Classifications		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 Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome ERCC4-related disorder	Criteria Provided Conflicting Classifications		rs_200069811	3 SubmittersRCV001116323 RCV002558148 RCV003898110
NM_005236.3(ERCC4):c.973+11A>T	SNV Germline	Chr16:13930901	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F not specified Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Condition: not provided	Criteria Provided Conflicting Classifications		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		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		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		rs_377391723	2 SubmittersRCV001136454 RCV002070587
NM_000400.4(ERCC2):c.2247G>A (p.Thr749=)	SNV Germline	Chr19:45351665	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group D Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200756227	3 SubmittersRCV002070546 RCV001132598 RCV002418589
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=)	SNV Germline	Chr19:45353099	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_368708674	5 SubmittersRCV001131687 RCV002070536 RCV002258138 RCV002411639
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	Criteria Provided Conflicting Classifications		rs_753641926	6 SubmittersRCV001131689 RCV001267911 RCV002282460
NM_000400.4(ERCC2):c.1725C>T (p.Ala575=)	SNV Germline	Chr19:45353275	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided Inborn genetic diseases ERCC2-related disorder	Criteria Provided Conflicting Classifications		rs_116544270	5 SubmittersRCV001132703 RCV001510707 RCV002402511 RCV004538355
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)	SNV Germline	Chr19:45357512	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Condition: not provided	Criteria Provided Conflicting Classifications		rs_141457460	3 SubmittersRCV001136105 RCV001294169 RCV003405337
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		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		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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_769231981	3 SubmittersRCV001132799 RCV002070548 RCV002451337
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		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		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		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		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		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	Criteria Provided Conflicting Classifications		rs_370847346	3 SubmittersRCV001146475 RCV001433313
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		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		rs_754591857	2 SubmittersRCV001149248 RCV003718365
NM_004628.5(XPC):c.779+11C>T	SNV Germline	Chr3:14165417	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Conflicting Classifications		rs_199838876	3 SubmittersRCV002258144 RCV001149249 RCV002557211
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		rs_182782193	2 SubmittersRCV001150748 RCV003574846
NM_006502.3(POLH):c.229C>T (p.Leu77=)	SNV Germline	Chr6:43583098	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Conflicting Classifications		rs_199840329	2 SubmittersRCV001164354 RCV003558732
NM_006502.3(POLH):c.396A>G (p.Leu132=)	SNV Germline	Chr6:43587395	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Conflicting Classifications		rs_1449546916	2 SubmittersRCV001164359 RCV003698847
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		rs_150901869	2 SubmittersRCV001159433 RCV003558726
NM_006502.3(POLH):c.815T>C (p.Ile272Thr)	SNV Germline	Chr6:43603942	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		rs_147712217	4 SubmittersRCV001160807 RCV002070990 RCV002258146
NM_006502.3(POLH):c.1299C>A (p.Ala433=)	SNV Germline	Chr6:43613714	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications		rs_140331414	3 SubmittersRCV001162422 RCV002259086 RCV003546668
NM_006502.3(POLH):c.1406C>T (p.Ala469Val)	SNV Germline	Chr6:43613821	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		rs_200438344	2 SubmittersRCV001162423 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		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		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		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		rs_899478069	3 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		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		rs_374978891	2 SubmittersRCV001211525 RCV001644951
NM_005236.3(ERCC4):c.793-2A>G	SNV Germline	Chr16:13930708	Pathogenic	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Single Submitter		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		rs_778987248	2 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		rs_1696679400	2 SubmittersRCV001233225 RCV003462792
NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)	SNV Germline	Chr2:127280620	Pathogenic/Likely pathogenic	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_150954655	3 SubmittersRCV001523810 RCV001871730
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		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 Xeroderma pigmentosum Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_533121927	4 SubmittersRCV001292648 RCV002258181 RCV002538414 RCV003238336
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)	SNV Germline	Chr19:45352801	Conflicting classifications of pathogenicity	Trichothiodystrophy 1, photosensitive Condition: not provided Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 ERCC2-related disorder	Criteria Provided Conflicting Classifications		rs_376556895	5 SubmittersRCV001292729 RCV001780237 RCV002256728 RCV003469508 RCV004531070
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)	SNV Germline	Chr16:13935323	Conflicting classifications of pathogenicity	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Ovarian cancer	Criteria Provided Conflicting Classifications		rs_780488548	2 SubmittersRCV001300359 RCV003153976
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)	SNV Germline	Chr16:13935734	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome not specified Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		rs_138532294	3 SubmittersRCV001294384 RCV001819982 RCV002258183
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		rs_765724086	2 SubmittersRCV001326876 RCV002258204
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		rs_1696314718	2 SubmittersRCV001376873 RCV004570800
NM_000400.4(ERCC2):c.949+3G>T	SNV Germline	Chr19:45363983	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D ERCC2-related disorder	Criteria Provided Conflicting Classifications		rs_997825199	2 SubmittersRCV001331199 RCV004545206
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		rs_761737358	3 SubmittersRCV001331198 RCV001871815 RCV003387999
NM_005236.3(ERCC4):c.1102+1G>T	SNV Germline	Chr16:13932286	Likely pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts		rs_1314323456	2 SubmittersRCV001377820 RCV003226467
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)	SNV Germline	Chr16:13920187	Pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome	Criteria Provided Single Submitter		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		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		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 Cockayne syndrome Fanconi anemia complementation group Q not specified Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		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		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	Criteria Provided Multiple Submitters No Conflicts		rs_1360631927	2 SubmittersRCV001531476 RCV003994304
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		rs_201165309	2 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		rs_150000483	3 SubmittersRCV002256833 RCV002540725
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		rs_1055129064	2 SubmittersRCV001780443 RCV002478003
NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter)	SNV Germline	Chr3:14147299	Likely pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter		rs_370126012	1 SubmittersRCV001797908
NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly)	SNV Germline	Chr19:45352580	Likely pathogenic	Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D	Criteria Provided Single Submitter		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		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		rs_2127821940	1 SubmittersRCV001808275
NM_000123.4(ERCC5):c.673-2A>G	SNV Germline	Chr13:102861505	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group G Cerebrooculofacioskeletal syndrome 3	Criteria Provided Multiple Submitters No Conflicts		rs_756420203	2 SubmittersRCV001822133 RCV002503310
NM_005236.3(ERCC4):c.576G>C (p.Leu192=)	SNV Germline	Chr16:13926748	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications		rs_2141944936	2 SubmittersRCV001820410 RCV002074332
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)	SNV Germline	Chr16:13926751	Pathogenic	Condition: not provided Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Multiple Submitters No Conflicts		rs_753325454	2 SubmittersRCV001817844 RCV001869789
NM_004628.5(XPC):c.2250+1G>A	SNV Germline	Chr3:14148813	Pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			2 SubmittersRCV002280586
NM_000122.2(ERCC3):c.657+1G>A	SNV Germline	Chr2:127289688	Likely pathogenic	Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts		rs_56116802	2 SubmittersRCV001973143 RCV002266076
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		rs_559497462	2 SubmittersRCV001963029 RCV003994368
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter)	SNV Germline	Chr16:13935183	Pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome	Criteria Provided Single Submitter		rs_762738968	1 SubmittersRCV001919468
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		rs_1355878901	1 SubmittersRCV002037756
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		rs_781023624	2 SubmittersRCV001941958 RCV003464300
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter)	SNV Germline	Chr2:127279183	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Multiple Submitters No Conflicts		rs_768687646	2 SubmittersRCV001935189 RCV002507014
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter)	SNV Germline	Chr2:127259382	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum group B Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_763315862	3 SubmittersRCV001956455 RCV003136379 RCV002564395
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		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		rs_1410724947	2 SubmittersRCV002105132 RCV002256918
NM_004628.5(XPC):c.749A>G (p.Asp250Gly)	SNV Germline	Chr3:14165458	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		rs_201247727	2 SubmittersRCV002249203 RCV002258399
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		rs_899469885	2 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		rs_763654639	2 SubmittersRCV002250252 RCV002252782
NM_000122.2(ERCC3):c.235-1G>A	SNV Germline	Chr2:127292847	Likely pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter		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		rs_369227601	2 SubmittersRCV002257082 RCV003101408
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		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		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		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		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		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			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			1 SubmittersRCV002468705
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)	SNV Germline	Chr2:127286745	Pathogenic	Xeroderma pigmentosum group B Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002472162 RCV003317611 RCV003730245
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			3 SubmittersRCV002605879 RCV002605878 RCV003388152
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)	SNV Germline	Chr16:13930789	Pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002595685
NM_004628.5(XPC):c.1872+1G>A	SNV Germline	Chr3:14158010	Likely pathogenic	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003465807 RCV002666746
NM_004628.5(XPC):c.1969G>T (p.Glu657Ter)	SNV Germline	Chr3:14156399	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			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			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			1 SubmittersRCV003326669
NM_005236.3(ERCC4):c.1214-1G>A	SNV Germline	Chr16:13935145	Likely pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter			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 Fanconi anemia complementation group Q Cockayne syndrome	Criteria Provided Conflicting Classifications			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			3 SubmittersRCV003226668 RCV004572885
NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter)	SNV Germline	Chr16:13922126	Likely pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter			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			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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003317740 RCV003459829 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			2 SubmittersRCV003332070 RCV003459839
NM_000380.4(XPA):c.574G>T (p.Glu192Ter)	SNV Unknown	Chr9:97685022	Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter			1 SubmittersRCV003464890
NM_004628.5(XPC):c.2515A>T (p.Lys839Ter)	SNV Unknown	Chr3:14147379	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			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			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			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			1 SubmittersRCV003464895
NM_004628.5(XPC):c.621+1G>A	SNV Unknown	Chr3:14167168	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			1 SubmittersRCV003464896
NM_004628.5(XPC):c.2421-2A>G	SNV Unknown	Chr3:14148003	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			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			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			2 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			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			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			2 SubmittersRCV003555030 RCV004574096
NM_000380.4(XPA):c.283G>A (p.Gly95Arg)	SNV Germline	Chr9:97693649	Pathogenic	Condition: not provided Xeroderma pigmentosum group A	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003557460 RCV004574099
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			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			2 SubmittersRCV003679492 RCV004574214
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			2 SubmittersRCV003717029 RCV004573252
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)	SNV Germline	Chr16:13920313	Pathogenic	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Single Submitter			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			1 SubmittersRCV003781269
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)	SNV Germline	Chr16:13935308	Pathogenic	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Single Submitter			1 SubmittersRCV003781677
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)	SNV Germline	Chr16:13930803	Pathogenic	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Single Submitter			1 SubmittersRCV003792676
NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)	SNV Germline	Chr13:102852234	Likely pathogenic	Xeroderma pigmentosum, group G	Criteria Provided Single Submitter			1 SubmittersRCV003988755
NM_004628.5(XPC):c.856A>T (p.Arg286Ter)	SNV Germline	Chr3:14164857	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			1 SubmittersRCV003988964
NM_000380.4(XPA):c.283+1G>A	SNV Unknown	Chr9:97693648	Likely pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter			1 SubmittersRCV004573877
NM_000380.4(XPA):c.389+1G>T	SNV Unknown	Chr9:97689533	Pathogenic	Xeroderma pigmentosum group A	Criteria Provided Single Submitter			1 SubmittersRCV004573878
NM_004628.5(XPC):c.2115+1G>C	SNV Unknown	Chr3:14152334	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			1 SubmittersRCV004573879
NM_004628.5(XPC):c.2605-2A>G	SNV Unknown	Chr3:14146161	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			1 SubmittersRCV004573883
NM_004628.5(XPC):c.1399C>T (p.Gln467Ter)	SNV Unknown	Chr3:14158484	Pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			1 SubmittersRCV004573885
NM_004628.5(XPC):c.780-2A>G	SNV Unknown	Chr3:14164935	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			1 SubmittersRCV004573886
NM_004628.5(XPC):c.2034-2A>G	SNV Unknown	Chr3:14152418	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			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			1 SubmittersRCV004573888

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

7 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

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group A

Criteria Provided
Conflicting Classifications

CA251648

rs_104894131

3 SubmittersRCV000001048

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

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_000546.6(TP53):c.733G>A (p.Gly245Ser)

SNV
Germline/somatic

Chr17:7674230

Pathogenic

Li-fraumeni-like syndrome
Adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Uterine carcinosarcoma
Carcinoma of esophagus
Brainstem glioma
Squamous cell lung carcinoma
Neoplasm of brain
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Atypical teratoid rhabdoid tumor
Astrocytoma, anaplastic
Prostate adenocarcinoma
Glioblastoma
Neoplasm
Breast neoplasm
Hepatocellular carcinoma
Neoplasm of the large intestine
Neoplasm of ovary
Familial ovarian cancer
Breast carcinoma
Colorectal cancer
12 conditions
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary
Gastric cancer
TP53-related disorder
Xeroderma pigmentosum
Multiple acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA000367

rs_28934575

31 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000421457 RCV000432898 RCV000442506 RCV000419767 RCV000426307 RCV000428113 RCV000438107 RCV000426990 RCV000430925 RCV000432120 RCV000437643 RCV000226657 RCV000587017 RCV000588736 RCV000417419 RCV000420452 RCV000425581 RCV000436979 RCV000438801 RCV000442529 RCV000785316 RCV001354825 RCV001642222 RCV001270274 RCV002496337 RCV003332080 RCV003460464 RCV003162245 RCV003914832 RCV004540999 RCV004526594

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

Criteria Provided
Conflicting Classifications

CA126686

rs_121913049

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

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

SNV
Germline

Chr2:127257733

Pathogenic

Xeroderma pigmentosum group B

No Assertion Criteria Provided

rs_200733704

1 SubmittersRCV000018050

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

SNV
Germline

Chr2:127292785

Pathogenic

Xeroderma pigmentosum group B

No Assertion Criteria Provided

CA257543

rs_121913045

1 SubmittersRCV000018051

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

SNV
Germline

Chr2:127286772

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA257545

rs_121913047

5 SubmittersRCV000018053 RCV001851900 RCV002513092 RCV004541009

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

SNV
Germline

Chr2:127279270

Pathogenic

Xeroderma pigmentosum group B

No Assertion Criteria Provided

CA257548

rs_121913048

1 SubmittersRCV000018056

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

SNV
Germline

Chr2:127292609

Pathogenic

Xeroderma pigmentosum group B
Xeroderma pigmentosum

Criteria Provided
Single Submitter

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

Criteria Provided
Multiple Submitters
No Conflicts

CA126885

rs_121913021

6 SubmittersRCV000018275 RCV002513098 RCV003153304 RCV003460483 RCV002482884

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

SNV
Germline

Chr19:45352802

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA126891

rs_121913024

6 SubmittersRCV000018278 RCV000171547 RCV002468972 RCV001582486

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
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
Trichothiodystrophy
Hypotrichosis simplex
ERCC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA126893

rs_121913026

15 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
Condition: not provided
Inborn genetic diseases
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA257630

rs_41556519

8 SubmittersRCV000018284 RCV000518900 RCV000623275 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
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA143933

rs_149364215

3 SubmittersRCV000049245 RCV001067959 RCV003144119

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

SNV
Germline

Chr16:13928149

Likely pathogenic

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

Criteria Provided
Single Submitter

CA143938

rs_397509403

2 SubmittersRCV000049248 RCV001568088

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

Criteria Provided
Multiple Submitters
No Conflicts

CA143941

rs_147105770

6 SubmittersRCV000049250 RCV000700109 RCV000762956 RCV002222373 RCV003415812

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

SNV
Germline

Chr11:47238177

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158255

rs_143049891

9 SubmittersRCV000120630 RCV000861341 RCV001102816 RCV002257417 RCV003935146

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

SNV
Germline

Chr19:45370191

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158761

rs_147972150

7 SubmittersRCV000120770 RCV001136196 RCV001292799 RCV001329858 RCV000893772 RCV002258797 RCV004542872 RCV003153388

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

SNV
Germline

Chr19:45352648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158767

rs_34517175

6 SubmittersRCV000120772 RCV001129001 RCV000860939 RCV002257422 RCV004542873

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

SNV
Germline

Chr19:45352249

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158773

rs_144564120

13 SubmittersRCV000120774 RCV000255243 RCV000778547 RCV000761018 RCV001329855 RCV000990227 RCV003114266 RCV003467078 RCV002515854

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

SNV
Germline

Chr19:45364887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158809

rs_142936491

6 SubmittersRCV000120786 RCV000358437 RCV000896557 RCV001843479 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

Criteria Provided
Conflicting Classifications

CA158821

rs_568193912

5 SubmittersRCV000120790 RCV001462857 RCV002258798 RCV003915201

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

Criteria Provided
Conflicting Classifications

CA248735

rs_145201970

11 SubmittersRCV000120800 RCV000765502 RCV001129472 RCV001294157 RCV001362006 RCV002257425 RCV004019680

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

SNV
Germline

Chr16:13948141

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158873

rs_374186605

7 SubmittersRCV000120810 RCV000535348 RCV002257428 RCV002515858 RCV003153389 RCV003315749 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
Hutchinson-Gilford syndrome
Xeroderma pigmentosum
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA158876

rs_4986933

9 SubmittersRCV000120811 RCV000476568 RCV000989535 RCV001034545 RCV002257429 RCV002515859

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

Criteria Provided
Conflicting Classifications

CA158888

rs_1800069

12 SubmittersRCV000120815 RCV000463526 RCV001121237 RCV001354835 RCV001332584 RCV001788036 RCV002257430 RCV002515860 RCV003915202

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

SNV
Germline

Chr16:13922034

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158897

rs_145315496

5 SubmittersRCV000120818 RCV000728799 RCV001209805 RCV001543122

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

SNV
Germline

Chr16:13934224

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158906

rs_1799802

11 SubmittersRCV000120821 RCV000224511 RCV001083882 RCV002257432 RCV001116216 RCV003224157 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
Hutchinson-Gilford syndrome
Xeroderma pigmentosum, group F
Xeroderma pigmentosum
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA158912

rs_146601373

8 SubmittersRCV000120823 RCV000459235 RCV001034544 RCV001117661 RCV002258800 RCV002515862

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

SNV
Germline

Chr16:13935347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158918

rs_572439259

3 SubmittersRCV000120825 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
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q
Condition: not provided
Xeroderma pigmentosum
ERCC4-related disorder

Criteria Provided
Conflicting Classifications

CA158921

rs_41552412

12 SubmittersRCV000120826 RCV000343662 RCV000546465 RCV000764023 RCV001292825 RCV001355143 RCV002258801 RCV003975071

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

Criteria Provided
Conflicting Classifications

CA158936

rs_1800068

13 SubmittersRCV000120831 RCV000651477 RCV001119237 RCV001357601 RCV001294105 RCV002055332 RCV002257433 RCV002515863

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
Condition: not provided
Hereditary cancer-predisposing syndrome
ERCC5-related disorder

Criteria Provided
Conflicting Classifications

CA158978

rs_2227871

8 SubmittersRCV000120842 RCV001112637 RCV000861420 RCV002256057 RCV003925184

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

SNV
Germline

Chr13:102875337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA159002

rs_368550097

5 SubmittersRCV000120848 RCV000312757 RCV000980003 RCV002255297 RCV003153390

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

SNV
Germline

Chr13:102858338

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Xeroderma pigmentosum, group G

Criteria Provided
Conflicting Classifications

CA159018

rs_141369732

4 SubmittersRCV000120852 RCV000903966 RCV001112453

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

SNV
Germline

Chr13:102862408

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA159073

rs_143667470

6 SubmittersRCV000120866 RCV000897102 RCV001109781 RCV002256060

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

SNV
Germline

Chr9:97685025

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162832

rs_562768588

5 SubmittersRCV000122316 RCV000665704 RCV000930543

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.1780C>T (p.Arg594Cys)

SNV
Germline

Chr3:14158103

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA162916

rs_183238369

5 SubmittersRCV000122344 RCV000861309 RCV001150642 RCV002257449

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

SNV
Germline

Chr19:45361647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA162980

rs_369538318

5 SubmittersRCV000122383 RCV000913781 RCV002256081 RCV002514657 RCV004530044

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

SNV
Germline

Chr3:14148732

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274757

rs_754673606

15 SubmittersRCV000170434 RCV000590804 RCV001071689 RCV003954993

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

SNV
Germline

Chr3:14158206

Pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

CA274754

rs_767569346

2 SubmittersRCV000170432

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

SNV
Germline

Chr3:14165587

Pathogenic

Xeroderma pigmentosum, group C
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA274753

rs_201940931

5 SubmittersRCV000170430 RCV001205980 RCV001174681

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

3 SubmittersRCV000190581 RCV002247614 RCV004017474

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

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204515

rs_772570523

3 SubmittersRCV000208975 RCV003556267

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

SNV
Germline

Chr6:43604637

Pathogenic

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA205006

rs_759607901

2 SubmittersRCV000209179 RCV003556268

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

4 SubmittersRCV000251879 RCV001195542 RCV003556274

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

SNV
Germline

Chr16:13926675

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910211

rs_2020961

3 SubmittersRCV000226103 RCV001294109 RCV003929973

NM_004628.5(XPC):c.2033+4C>T

SNV
Germline

Chr3:14156331

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group C

Criteria Provided
Conflicting Classifications

CA2267300

rs_753195190

2 SubmittersRCV000252347 RCV000667312

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

8 SubmittersRCV000246304 RCV001063951 RCV001255518

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

SNV
Germline

Chr19:45352351

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10587999

rs_758439420

5 SubmittersRCV000248679 RCV000812198 RCV003463714 RCV002487166

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

SNV
Germline

Chr2:127292756

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA090899

rs_34295337

11 SubmittersRCV000255849 RCV000986812 RCV001175535 RCV002487171

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

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

rs_1828741490

3 SubmittersRCV001172311 RCV001386670

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

SNV
Germline

Chr2:127259401

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858080

rs_114710997

3 SubmittersRCV002255366 RCV000402887 RCV000963605

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

Condition: not provided
Xeroderma pigmentosum group B
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA1858278

rs_769083884

3 SubmittersRCV002523083 RCV000303849 RCV002255367

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
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA1858081

rs_114508982

4 SubmittersRCV000301311 RCV002057567 RCV002256207

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

Criteria Provided
Conflicting Classifications

CA1858090

rs_151216904

6 SubmittersRCV000404854 RCV001366056 RCV002256208

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

Condition: not provided
Xeroderma pigmentosum group B
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA1858385

rs_752026166

3 SubmittersRCV002521282 RCV000334035 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.1185G>A (p.Lys395=)

SNV
Germline

Chr3:14158698

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C

Criteria Provided
Conflicting Classifications

CA10615449

rs_886058051

2 SubmittersRCV000674640

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

3 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
Condition: not provided
XPA-related disorder

Criteria Provided
Conflicting Classifications

CA5148825

rs_373762653

3 SubmittersRCV000321214 RCV002524578 RCV003957859

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

SNV
Germline

Chr9:97675530

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5148691

rs_144725456

6 SubmittersRCV000668335 RCV003114519 RCV003237833

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.669A>C (p.Pro223=)

SNV
Germline

Chr13:102858415

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group G
ERCC5-related disorder

Criteria Provided
Conflicting Classifications

CA7041230

rs_541094745

2 SubmittersRCV000279262 RCV003957613

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
Cerebrooculofacioskeletal syndrome 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7041148

rs_778333931

4 SubmittersRCV000264358 RCV001294161 RCV002256194 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
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7041670

rs_199562917

4 SubmittersRCV000289993 RCV000861321 RCV002256197

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

SNV
Germline

Chr16:13930757

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA7910435

rs_3136151

4 SubmittersRCV000321953 RCV000529282 RCV001820939 RCV003422265

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

SNV
Germline

Chr19:45352272

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9512876

rs_147128863

6 SubmittersRCV000390659 RCV000915697 RCV004537834 RCV002418191

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
Condition: not provided
Inborn genetic diseases
ERCC2-related disorder

Criteria Provided
Conflicting Classifications

CA9513175

rs_375824454

4 SubmittersRCV000272985 RCV002057518 RCV002392884 RCV004544596

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

5 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
Cockayne syndrome
Xeroderma pigmentosum, group F
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
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
not specified

Criteria Provided
Conflicting Classifications

CA7910719

rs_139406689

3 SubmittersRCV000354867 RCV000863529 RCV001820940

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
Xeroderma pigmentosum
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9513552

rs_146022050

4 SubmittersRCV000318853 RCV000900496 RCV002256205 RCV002379214

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

SNV
Germline

Chr19:45352801

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9513025

rs_376556895

11 SubmittersRCV000312948 RCV000489442 RCV000763054 RCV001195426 RCV002523070 RCV003470315

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

SNV
Germline

Chr19:45364274

Likely pathogenic

ERCC2-related disorder
Condition: not provided
Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA9513634

rs_370454709

5 SubmittersRCV000349442 RCV000435999 RCV002256206 RCV003470316

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

SNV
Germline

Chr19:45352257

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9512871

rs_546902024

4 SubmittersRCV000300493 RCV002057517 RCV002429293

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

Condition: not provided
Xeroderma pigmentosum, group D

Criteria Provided
Conflicting Classifications

CA10652536

rs_886054498

2 SubmittersRCV003698769 RCV000375762

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

SNV
Germline

Chr19:45363977

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9513571

rs_529824119

3 SubmittersRCV000279128 RCV000915640 RCV004544597

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

SNV
Germline

Chr16:13922064

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910134

rs_55761944

2 SubmittersRCV000473210 RCV002496767

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

SNV
Germline

Chr9:97689600

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum group A

Criteria Provided
Conflicting Classifications

CA374187825

rs_104894131

3 SubmittersRCV000492893 RCV000672811

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

SNV
Germline

Chr16:13926643

Conflicting classifications of pathogenicity

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

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

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
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2267485

rs_757958943

7 SubmittersRCV000505517 RCV001175486 RCV001090469

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

SNV
Germline

Chr16:13922051

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA7910153

rs_148791570

5 SubmittersRCV000547965 RCV001117537 RCV001569666 RCV001821617 RCV002257839

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

SNV
Germline

Chr16:13932214

Conflicting classifications of pathogenicity

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2267274

rs_374117852

4 SubmittersRCV000589424 RCV001390105 RCV000666668

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

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

Criteria Provided
Conflicting Classifications

CA7910562

rs_2020952

7 SubmittersRCV000651479 RCV000989534 RCV001788310 RCV002257913 RCV002531975 RCV003965394

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

rs_1799792

8 SubmittersRCV000658844 RCV001131818 RCV002257921 RCV004544916

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

rs_975121308

3 SubmittersRCV000671425 RCV003558514

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

SNV
Unknown

Chr3:14148949

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

rs_1553604620

1 SubmittersRCV000667696

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

SNV
Unknown

Chr3:14152349

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

rs_1553605023

1 SubmittersRCV000673420

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

SNV
Germline

Chr3:14165587

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_201940931

7 SubmittersRCV000664737 RCV001529516

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

SNV
Germline

Chr3:14148665

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_770308917

3 SubmittersRCV000673240 RCV000797367

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

SNV
Germline

Chr3:14178465

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1423398589

3 SubmittersRCV000668920 RCV001868226

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

SNV
Germline

Chr3:14148733

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

rs_763678756

4 SubmittersRCV000666438 RCV001861752 RCV002509495

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

SNV
Unknown

Chr3:14158502

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

rs_754197041

2 SubmittersRCV000667716

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

SNV
Germline

Chr3:14148912

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

rs_764480429

4 SubmittersRCV000674407 RCV001225610 RCV003235341

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

SNV
Germline

Chr3:14158319

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1553607744

3 SubmittersRCV000666590 RCV000805953

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

SNV
Germline

Chr3:14178464

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553608616

2 SubmittersRCV000670023 RCV003767980

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

SNV
Unknown

Chr3:14158894

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

rs_1553605894

1 SubmittersRCV000671134

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

SNV
Germline

Chr3:14159773

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

rs_1553608637

3 SubmittersRCV000666399 RCV001038115

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

SNV
Germline

Chr3:14178568

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_763678756

2 SubmittersRCV000671101 RCV003669168

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

SNV
Unknown

Chr9:97684997

Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

rs_755803064

1 SubmittersRCV000674552

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

SNV
Unknown

Chr9:97684921

Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

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

rs_761978351

4 SubmittersRCV000669338 RCV001855518

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

SNV
Germline

Chr9:97684965

Pathogenic/Likely pathogenic

Xeroderma pigmentosum group A
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_149226993

5 SubmittersRCV000666956 RCV000781923 RCV001045901

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

SNV
Unknown

Chr9:97687094

Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

rs_1554701478

1 SubmittersRCV000668662

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

SNV
Unknown

Chr9:97687095

Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

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

rs_746617574

5 SubmittersRCV000665444 RCV001174635 RCV001855442 RCV003403537

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

SNV
Germline

Chr9:97689545

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group A
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

rs_1451780491

3 SubmittersRCV000668799 RCV002256462

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

SNV
Germline

Chr9:97675584

Pathogenic/Likely pathogenic

Xeroderma pigmentosum group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554699334

2 SubmittersRCV000670364 RCV001035389

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

SNV
Germline

Chr9:97689533

Pathogenic/Likely pathogenic

Xeroderma pigmentosum group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

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
Multiple Submitters
No Conflicts

rs_1554703119

2 SubmittersRCV000672997

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

SNV
Unknown

Chr9:97697291

Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

rs_1253496792

1 SubmittersRCV000666994

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

SNV
Unknown

Chr9:97687200

Pathogenic/Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554701532

2 SubmittersRCV000669539

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

SNV
Germline

Chr9:97689534

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group A
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

rs_1324310300

2 SubmittersRCV000666137 RCV003403540

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

SNV
Unknown

Chr9:97693697

Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

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
Multiple Submitters
No Conflicts

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

rs_1559374923

4 SubmittersRCV000680142 RCV003314635

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

SNV
Germline

Chr2:127289763

Pathogenic

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Single Submitter

rs_138385061

2 SubmittersRCV000770819 RCV002536615

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

SNV
Germline

Chr19:45368692

Pathogenic

Xeroderma pigmentosum, group D

No Assertion Criteria Provided

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

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

rs_1568546120

1 SubmittersRCV000770816

NM_006502.3(POLH):c.-4-1G>C

SNV
Germline

Chr6:43582315

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1461960812

2 SubmittersRCV000778795 RCV003558582

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_746795177

3 SubmittersRCV000778549 RCV002535637 RCV004569485

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

SNV
Germline

Chr16:13935719

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_751782722

2 SubmittersRCV000820566 RCV003153866

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

SNV
Germline

Chr16:13947765

Pathogenic

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

Criteria Provided
Single Submitter

rs_2020959

2 SubmittersRCV000822020 RCV001194781

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

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

rs_182189497

4 SubmittersRCV000861308 RCV001146339 RCV002258001 RCV003965637

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

SNV
Germline

Chr16:13926675

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2020961

3 SubmittersRCV001292967 RCV000862022 RCV002536230

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_769750286

3 SubmittersRCV001131819 RCV000927354 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

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

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

Criteria Provided
Conflicting Classifications

rs_760867012

4 SubmittersRCV000933789 RCV001144543 RCV002259058

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

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

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

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

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
Xeroderma pigmentosum, group D
Xeroderma pigmentosum
Trichothiodystrophy 1, photosensitive

Criteria Provided
Conflicting Classifications

rs_201840907

4 SubmittersRCV000967520 RCV001135983 RCV002256635 RCV001294171

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

rs_753527196

2 SubmittersRCV000980736 RCV001144546

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

SNV
Germline

Chr19:45357323

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

rs_531021258

4 SubmittersRCV001132705 RCV000978494 RCV002258075

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

SNV
Unknown

Chr2:127271348

Likely pathogenic

Xeroderma pigmentosum group B

Criteria Provided
Single Submitter

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

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
Cerebrooculofacioskeletal syndrome 3
Hereditary cancer-predisposing syndrome
ERCC5-related disorder

Criteria Provided
Conflicting Classifications

rs_4150318

9 SubmittersRCV000989159 RCV001579437 RCV001788388 RCV002255601 RCV003936244

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

rs_756967163

4 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

rs_199562456

4 SubmittersRCV001090592 RCV003132220 RCV003155358

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

SNV
Germline

Chr11:47215195

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373622283

5 SubmittersRCV001104633 RCV002258135 RCV002555028 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

rs_188710607

2 SubmittersRCV001109957 RCV003153930

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

SNV
Germline

Chr16:13935672

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_200069811

3 SubmittersRCV001116323 RCV002558148 RCV003898110

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

SNV
Germline

Chr16:13930901

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

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

rs_377391723

2 SubmittersRCV001136454 RCV002070587

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

SNV
Germline

Chr19:45351665

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200756227

3 SubmittersRCV002070546 RCV001132598 RCV002418589

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

SNV
Germline

Chr19:45353099

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_368708674

5 SubmittersRCV001131687 RCV002070536 RCV002258138 RCV002411639

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

Criteria Provided
Conflicting Classifications

rs_753641926

6 SubmittersRCV001131689 RCV001267911 RCV002282460

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

SNV
Germline

Chr19:45353275

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_116544270

5 SubmittersRCV001132703 RCV001510707 RCV002402511 RCV004538355

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

SNV
Germline

Chr19:45357512

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_141457460

3 SubmittersRCV001136105 RCV001294169 RCV003405337

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

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

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_769231981

3 SubmittersRCV001132799 RCV002070548 RCV002451337

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_370847346

3 SubmittersRCV001146475 RCV001433313

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

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

rs_754591857

2 SubmittersRCV001149248 RCV003718365

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

SNV
Germline

Chr3:14165417

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199838876

3 SubmittersRCV002258144 RCV001149249 RCV002557211

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

rs_182782193

2 SubmittersRCV001150748 RCV003574846

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

SNV
Germline

Chr6:43583098

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199840329

2 SubmittersRCV001164354 RCV003558732

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

SNV
Germline

Chr6:43587395

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1449546916

2 SubmittersRCV001164359 RCV003698847

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

rs_150901869

2 SubmittersRCV001159433 RCV003558726

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

SNV
Germline

Chr6:43603942

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

rs_147712217

4 SubmittersRCV001160807 RCV002070990 RCV002258146

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

SNV
Germline

Chr6:43613714

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140331414

3 SubmittersRCV001162422 RCV002259086 RCV003546668

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

SNV
Germline

Chr6:43613821

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

rs_200438344

2 SubmittersRCV001162423 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

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

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

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

rs_899478069

3 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

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

rs_374978891

2 SubmittersRCV001211525 RCV001644951

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

SNV
Germline

Chr16:13930708

Pathogenic

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

Criteria Provided
Single Submitter

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

rs_778987248

2 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

rs_1696679400

2 SubmittersRCV001233225 RCV003462792

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

SNV
Germline

Chr2:127280620

Pathogenic/Likely pathogenic

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_150954655

3 SubmittersRCV001523810 RCV001871730

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

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
Xeroderma pigmentosum
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_533121927

4 SubmittersRCV001292648 RCV002258181 RCV002538414 RCV003238336

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

SNV
Germline

Chr19:45352801

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_376556895

5 SubmittersRCV001292729 RCV001780237 RCV002256728 RCV003469508 RCV004531070

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

SNV
Germline

Chr16:13935323

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_780488548

2 SubmittersRCV001300359 RCV003153976

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

SNV
Germline

Chr16:13935734

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_138532294

3 SubmittersRCV001294384 RCV001819982 RCV002258183

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

rs_765724086

2 SubmittersRCV001326876 RCV002258204

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

rs_1696314718

2 SubmittersRCV001376873 RCV004570800

NM_000400.4(ERCC2):c.949+3G>T

SNV
Germline

Chr19:45363983

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
ERCC2-related disorder

Criteria Provided
Conflicting Classifications

rs_997825199

2 SubmittersRCV001331199 RCV004545206

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

rs_761737358

3 SubmittersRCV001331198 RCV001871815 RCV003387999

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

SNV
Germline

Chr16:13932286

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1314323456

2 SubmittersRCV001377820 RCV003226467

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

SNV
Germline

Chr16:13920187

Pathogenic

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

Criteria Provided
Single Submitter

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

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

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
Cockayne syndrome
Fanconi anemia complementation group Q
not specified
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1360631927

2 SubmittersRCV001531476 RCV003994304

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

rs_201165309

2 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

rs_150000483

3 SubmittersRCV002256833 RCV002540725

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

rs_1055129064

2 SubmittersRCV001780443 RCV002478003

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

SNV
Germline

Chr3:14147299

Likely pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

rs_370126012

1 SubmittersRCV001797908

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

SNV
Germline

Chr19:45352580

Likely pathogenic

Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D

Criteria Provided
Single Submitter

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

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

rs_2127821940

1 SubmittersRCV001808275

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

SNV
Germline

Chr13:102861505

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_756420203

2 SubmittersRCV001822133 RCV002503310

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

SNV
Germline

Chr16:13926748

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2141944936

2 SubmittersRCV001820410 RCV002074332

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

SNV
Germline

Chr16:13926751

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_753325454

2 SubmittersRCV001817844 RCV001869789

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

SNV
Germline

Chr3:14148813

Pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

2 SubmittersRCV002280586

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

SNV
Germline

Chr2:127289688

Likely pathogenic

Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

rs_56116802

2 SubmittersRCV001973143 RCV002266076

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

rs_559497462

2 SubmittersRCV001963029 RCV003994368

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

SNV
Germline

Chr16:13935183

Pathogenic

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

Criteria Provided
Single Submitter

rs_762738968

1 SubmittersRCV001919468

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

rs_1355878901

1 SubmittersRCV002037756

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

rs_781023624

2 SubmittersRCV001941958 RCV003464300

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

SNV
Germline

Chr2:127279183

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_768687646

2 SubmittersRCV001935189 RCV002507014

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

SNV
Germline

Chr2:127259382

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum group B
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_763315862

3 SubmittersRCV001956455 RCV003136379 RCV002564395

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

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

rs_1410724947

2 SubmittersRCV002105132 RCV002256918

NM_004628.5(XPC):c.749A>G (p.Asp250Gly)

SNV
Germline

Chr3:14165458

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

rs_201247727

2 SubmittersRCV002249203 RCV002258399

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

rs_899469885

2 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

rs_763654639

2 SubmittersRCV002250252 RCV002252782

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

SNV
Germline

Chr2:127292847

Likely pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

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

rs_369227601

2 SubmittersRCV002257082 RCV003101408

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

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

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

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

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

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

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

1 SubmittersRCV002468705

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

SNV
Germline

Chr2:127286745

Pathogenic

Xeroderma pigmentosum group B
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002472162 RCV003317611 RCV003730245

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

3 SubmittersRCV002605879 RCV002605878 RCV003388152

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

SNV
Germline

Chr16:13930789

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002595685

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

SNV
Germline

Chr3:14158010

Likely pathogenic

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003465807 RCV002666746

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

SNV
Germline

Chr3:14156399

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003326669

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

SNV
Germline

Chr16:13935145

Likely pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

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
Fanconi anemia complementation group Q
Cockayne syndrome

Criteria Provided
Conflicting Classifications

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

3 SubmittersRCV003226668 RCV004572885

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

SNV
Germline

Chr16:13922126

Likely pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

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

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003317740 RCV003459829 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

2 SubmittersRCV003332070 RCV003459839

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

SNV
Unknown

Chr9:97685022

Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

1 SubmittersRCV003464890

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

SNV
Unknown

Chr3:14147379

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003464895

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

SNV
Unknown

Chr3:14167168

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

1 SubmittersRCV003464896

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

SNV
Unknown

Chr3:14148003

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

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

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

2 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

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

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

2 SubmittersRCV003555030 RCV004574096

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

SNV
Germline

Chr9:97693649

Pathogenic

Condition: not provided
Xeroderma pigmentosum group A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003557460 RCV004574099

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

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

2 SubmittersRCV003679492 RCV004574214

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

2 SubmittersRCV003717029 RCV004573252

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

SNV
Germline

Chr16:13920313

Pathogenic

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

Criteria Provided
Single Submitter

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

1 SubmittersRCV003781269

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

SNV
Germline

Chr16:13935308

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003781677

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

SNV
Germline

Chr16:13930803

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003792676

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

SNV
Germline

Chr13:102852234

Likely pathogenic

Xeroderma pigmentosum, group G

Criteria Provided
Single Submitter

1 SubmittersRCV003988755

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

SNV
Germline

Chr3:14164857

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

1 SubmittersRCV003988964

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

SNV
Unknown

Chr9:97693648

Likely pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

1 SubmittersRCV004573877

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

SNV
Unknown

Chr9:97689533

Pathogenic

Xeroderma pigmentosum group A

Criteria Provided
Single Submitter

1 SubmittersRCV004573878

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

SNV
Unknown

Chr3:14152334

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

1 SubmittersRCV004573879

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

SNV
Unknown

Chr3:14146161

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

1 SubmittersRCV004573883

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

SNV
Unknown

Chr3:14158484

Pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

1 SubmittersRCV004573885

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

SNV
Unknown

Chr3:14164935

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

1 SubmittersRCV004573886

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

SNV
Unknown

Chr3:14152418

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

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

1 SubmittersRCV004573888