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 Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA251394	rs_121965088	8 SubmittersRCV000000283 RCV001851508 RCV001260295
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 Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251653	rs_104894133	11 SubmittersRCV000001051 RCV001420782 RCV000657642
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_000123.4(ERCC5):c.2878G>T (p.Glu960Ter)	SNV Germline	Chr13:102872397	Pathogenic	Xeroderma pigmentosum Xeroderma pigmentosum, group G Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257525	rs_121434570	3 SubmittersRCV000587956 RCV000018034 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 Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Condition: not provided XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q XFE progeroid syndrome Hutchinson-Gilford syndrome Breast carcinoma Carcinoma of pancreas Fanconi anemia complementation group Q Xeroderma pigmentosum ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA126686	rs_121913049	23 SubmittersRCV000018048 RCV000120808 RCV000467658 RCV000415873 RCV000768209 RCV000766208 RCV001034542 RCV001262417 RCV001391196 RCV001787804 RCV002257360 RCV003924841
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	Condition: not provided Trichothiodystrophy 1, photosensitive 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 SubmittersRCV001851906 RCV000018270 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 Condition: not provided Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA126883	rs_121913020	6 SubmittersRCV000018274 RCV000424822 RCV000018273 RCV003466865
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)	SNV Germline	Chr19:45352580	Pathogenic/Likely pathogenic	Condition: not provided Ovarian cancer Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D	Criteria Provided Multiple Submitters No Conflicts	CA126885	rs_121913021	7 SubmittersRCV002513098 RCV003153304 RCV000018275 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 Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA126891	rs_121913024	6 SubmittersRCV000018278 RCV000171547 RCV001582486 RCV002468972
NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro)	SNV Germline	Chr19:45357295	Pathogenic	Xeroderma pigmentosum, group D	No Assertion Criteria Provided	CA257628	rs_121913025	1 SubmittersRCV000018282
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	SNV Germline	Chr19:45352235	Pathogenic	Trichothiodystrophy 1, photosensitive Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy Hypotrichosis simplex Cerebrooculofacioskeletal syndrome 2 Condition: not provided ERCC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA126893	rs_121913026	16 SubmittersRCV000018283 RCV000763052 RCV001199920 RCV001449816 RCV000677676 RCV000255624 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 Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 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 ERCC4-Related Disorders Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA143933	rs_149364215	4 SubmittersRCV000049245 RCV001067959 RCV004700343 RCV003144119
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg)	SNV Germline	Chr16:13928149	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, type F/Cockayne syndrome Condition: not provided Xeroderma pigmentosum, group F	Criteria Provided Multiple Submitters No Conflicts	CA143938	rs_397509403	3 SubmittersRCV000049248 RCV001568088 RCV004814985
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)	SNV Germline	Chr16:13935697	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, type F/Cockayne syndrome Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q 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 Condition: not provided Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum Ovarian cancer ERCC2-related disorder	Criteria Provided Conflicting Classifications	CA158761	rs_147972150	7 SubmittersRCV000120770 RCV000893772 RCV001136196 RCV001292799 RCV001329858 RCV002258797 RCV003153388 RCV004542872
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val)	SNV Germline	Chr19:45352648	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group D Xeroderma pigmentosum ERCC2-related disorder	Criteria Provided Conflicting Classifications	CA158767	rs_34517175	6 SubmittersRCV000120772 RCV000860939 RCV001129001 RCV002257422 RCV004542873
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	SNV Germline	Chr19:45352249	Pathogenic/Likely pathogenic	not specified Condition: not provided ERCC2-related disorder Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Inborn genetic diseases Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA158773	rs_144564120	13 SubmittersRCV000120774 RCV000255243 RCV000778547 RCV000761018 RCV000990227 RCV001329855 RCV002515854 RCV003114266 RCV003467078
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 ERCC3-related disorder Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA158821	rs_568193912	5 SubmittersRCV000120790 RCV001462857 RCV003915201 RCV002258798
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys)	SNV Germline	Chr2:127288840	Conflicting classifications of pathogenicity	not specified Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B Xeroderma pigmentosum group B Condition: not provided Xeroderma pigmentosum Trichothiodystrophy 2, photosensitive Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA248735	rs_145201970	11 SubmittersRCV000120800 RCV000765502 RCV001129472 RCV001362006 RCV002257425 RCV001294157 RCV004019680
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)	SNV Germline	Chr16:13948141	Conflicting classifications of pathogenicity	not specified Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Inborn genetic diseases Ovarian cancer Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA158873	rs_374186605	7 SubmittersRCV000120810 RCV000535348 RCV002515858 RCV003153389 RCV003315749 RCV002470769 RCV002257428
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)	SNV Germline	Chr16:13948175	Conflicting classifications of pathogenicity	not specified Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Hutchinson-Gilford syndrome Inborn genetic diseases Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA158876	rs_4986933	10 SubmittersRCV000120811 RCV000476568 RCV000989535 RCV001034545 RCV002515859 RCV002257429 RCV004704960
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)	SNV Germline	Chr16:13948330	Conflicting classifications of pathogenicity	not specified Cockayne syndrome Xeroderma pigmentosum, group F 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 Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome 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 Cockayne syndrome Xeroderma pigmentosum, group F 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, group F Xeroderma pigmentosum 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 RCV001116216 RCV002257432 RCV003224157 RCV003925183
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)	SNV Germline	Chr16:13935420	Conflicting classifications of pathogenicity	not specified Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Hutchinson-Gilford syndrome Xeroderma pigmentosum Xeroderma pigmentosum, group F Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158912	rs_146601373	9 SubmittersRCV000120823 RCV000459235 RCV001034544 RCV002258800 RCV001117661 RCV004704961 RCV002515862
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)	SNV Germline	Chr16:13935347	Conflicting classifications of pathogenicity	not specified Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q 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.1606G>C (p.Val536Leu)	SNV Germline	Chr16:13935538	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158933	rs_143347563	4 SubmittersRCV000120830 RCV000989533 RCV001854624 RCV004786378
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)	SNV Germline	Chr16:13935659	Conflicting classifications of pathogenicity	not specified Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Condition: not provided 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 RCV001294105 RCV001357601 RCV002055332 RCV002257433 RCV002515863
NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu)	SNV Germline	Chr13:102846322	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group G Cerebrooculofacioskeletal syndrome 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158939	rs_34291397	9 SubmittersRCV000120832 RCV000995079 RCV001109705 RCV001293875 RCV002517588
NM_000123.4(ERCC5):c.2890C>T (p.Arg964Trp)	SNV Germline	Chr13:102873269	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group G Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA158962	rs_574826021	5 SubmittersRCV000120838 RCV000356768 RCV000912403 RCV002256055
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val)	SNV Germline	Chr13:102875698	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group G Hereditary cancer-predisposing syndrome ERCC5-related disorder	Criteria Provided Conflicting Classifications	CA158978	rs_2227871	8 SubmittersRCV000120842 RCV000861420 RCV001112637 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.1177C>T (p.Arg393Trp)	SNV Germline	Chr3:14158706	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group C Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA162910	rs_121965090	11 SubmittersRCV000122342 RCV000998003 RCV001146474 RCV002257448
NM_004628.5(XPC):c.1780C>T (p.Arg594Cys)	SNV Germline	Chr3:14158103	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group C Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA162916	rs_183238369	6 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	4 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	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome 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 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Inflammatory bowel disease 1	Criteria Provided Multiple Submitters No Conflicts	CA10587999	rs_758439420	6 SubmittersRCV000248679 RCV000812198 RCV002487166 RCV003463714 RCV004813082
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	SNV Germline	Chr2:127292756	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum Xeroderma pigmentosum group B Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive ERCC3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA090899	rs_34295337	12 SubmittersRCV000255849 RCV001175535 RCV000986812 RCV002487171 RCV004757184
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 group B Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA1858080	rs_114710997	4 SubmittersRCV000402887 RCV002255366 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	Xeroderma pigmentosum group B Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA1858278	rs_769083884	3 SubmittersRCV000303849 RCV002255367 RCV002523083
NM_000122.2(ERCC3):c.657+15G>A	SNV Germline	Chr2:127289674	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Conflicting Classifications	CA1858482	rs_781533251	2 SubmittersRCV000294077 RCV002521283
NM_000122.2(ERCC3):c.279C>T (p.Tyr93=)	SNV Germline	Chr2:127292802	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA1858572	rs_146938627	2 SubmittersRCV000407654 RCV002057569
NM_000122.2(ERCC3):c.2106G>A (p.Ala702=)	SNV Germline	Chr2:127259407	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA1858081	rs_114508982	4 SubmittersRCV000301311 RCV002256207 RCV002057567
NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr)	SNV Germline	Chr2:127259433	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum Xeroderma pigmentosum group B	Criteria Provided Conflicting Classifications	CA1858090	rs_151216904	7 SubmittersRCV001366056 RCV002256208 RCV000404854
NM_000122.2(ERCC3):c.1731-11T>C	SNV Germline	Chr2:127272972	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Conflicting Classifications	CA1858192	rs_746754189	2 SubmittersRCV000362103 RCV002057568
NM_000122.2(ERCC3):c.1155C>T (p.Asp385=)	SNV Germline	Chr2:127286890	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA1858342	rs_371396764	4 SubmittersRCV000263793 RCV000908712 RCV002255368
NM_000122.2(ERCC3):c.1026C>T (p.Cys342=)	SNV Germline	Chr2:127288661	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA1858385	rs_752026166	3 SubmittersRCV000334035 RCV002257645 RCV002521282
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 Xeroderma pigmentosum POLH-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3827348	rs_151095678	4 SubmittersRCV000299804 RCV002258882 RCV003912527 RCV000911755
NM_006502.3(POLH):c.491-4T>G	SNV Germline	Chr6:43597692	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Conflicting Classifications	CA3826998	rs_185508862	3 SubmittersRCV000354571 RCV000998609
NM_006502.3(POLH):c.698A>G (p.Asn233Ser)	SNV Germline	Chr6:43601025	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Conflicting Classifications	CA3827058	rs_61756403	4 SubmittersRCV000319612 RCV000959617
NM_006502.3(POLH):c.1266T>C (p.Leu422=)	SNV Germline	Chr6:43613681	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA3827223	rs_758340317	2 SubmittersRCV000380775 RCV003669141
NM_006502.3(POLH):c.738C>T (p.Leu246=)	SNV Germline	Chr6:43601065	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA3827066	rs_145530456	3 SubmittersRCV000355710 RCV002524483 RCV002257656
NM_006502.3(POLH):c.1074+7T>G	SNV Germline	Chr6:43605326	Conflicting classifications of pathogenicity	Xeroderma pigmentosum variant type Condition: not provided	Criteria Provided Conflicting Classifications	CA3827170	rs_765856970	2 SubmittersRCV000294499 RCV003766053
NM_000380.4(XPA):c.390-13A>C	SNV Germline	Chr9:97687274	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided XPA-related disorder	Criteria Provided Conflicting Classifications	CA5148825	rs_373762653	4 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.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 Fanconi anemia complementation group Q Cockayne syndrome	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 Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome	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 Fanconi anemia complementation group Q Cockayne syndrome	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 Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F 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 Inborn genetic diseases ERCC2-related disorder	Criteria Provided Conflicting Classifications	CA9512876	rs_147128863	6 SubmittersRCV000390659 RCV000915697 RCV002418191 RCV004537834
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=)	SNV Germline	Chr19:45352647	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group D Inborn genetic diseases Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA9512977	rs_145835916	6 SubmittersRCV000861246 RCV000990228 RCV002411223 RCV002257644
NM_000400.4(ERCC2):c.1644C>T (p.Thr548=)	SNV Germline	Chr19:45354751	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Inborn genetic diseases Condition: not provided ERCC2-related disorder	Criteria Provided Conflicting Classifications	CA9513175	rs_375824454	4 SubmittersRCV000272985 RCV002392884 RCV002057518 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 Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome	Criteria Provided Conflicting Classifications	CA7910701	rs_372425414	2 SubmittersRCV000407678 RCV002522813
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=)	SNV Germline	Chr16:13947888	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome not specified Xeroderma pigmentosum, group F	Criteria Provided Conflicting Classifications	CA7910719	rs_139406689	3 SubmittersRCV000863529 RCV001820940 RCV000354867
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 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA9513025	rs_376556895	11 SubmittersRCV000312948 RCV000489442 RCV000763054 RCV001195426 RCV003470315 RCV002523070
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 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9512871	rs_546902024	4 SubmittersRCV000300493 RCV002429293 RCV002057517
NM_000400.4(ERCC2):c.1404C>T (p.Pro468=)	SNV Germline	Chr19:45357345	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA10652530	rs_886054497	3 SubmittersRCV000363853 RCV003168490 RCV003727685
NM_000400.4(ERCC2):c.950-13C>A	SNV Germline	Chr19:45363924	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided	Criteria Provided Conflicting Classifications	CA10652536	rs_886054498	2 SubmittersRCV000375762 RCV003698769
NM_000400.4(ERCC2):c.949+9C>T	SNV Germline	Chr19:45363977	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D 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	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Condition: not provided	Criteria Provided Conflicting Classifications	CA7910134	rs_55761944	3 SubmittersRCV000473210 RCV002496767 RCV004822054
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr)	SNV Germline	Chr9:97689600	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum group A Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA374187825	rs_104894131	5 SubmittersRCV000492893 RCV000672811 RCV004586740
NM_005236.3(ERCC4):c.471A>G (p.Lys157=)	SNV Germline	Chr16:13926643	Conflicting classifications of pathogenicity	not specified Cockayne syndrome Fanconi anemia complementation group Q 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 Cockayne syndrome Fanconi anemia complementation group Q 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 Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA2267485	rs_757958943	7 SubmittersRCV000505517 RCV001090469 RCV001175486
NM_005236.3(ERCC4):c.228G>A (p.Leu76=)	SNV Germline	Chr16:13922051	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F Xeroderma pigmentosum ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA7910129	rs_61760162	4 SubmittersRCV000560297 RCV001116102 RCV002257838 RCV003900232
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr)	SNV Germline	Chr16:13922148	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q 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 Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2267274	rs_374117852	4 SubmittersRCV000589424 RCV000666668 RCV001390105
NM_000122.2(ERCC3):c.658-7C>G	SNV Germline	Chr2:127289508	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA1858466	rs_200361738	4 SubmittersRCV000612099 RCV001480670 RCV002256408
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter)	SNV Germline	Chr13:102866665	Likely pathogenic	Xeroderma pigmentosum, group G	Criteria Provided Single Submitter	CA388576262	rs_1244074570	2 SubmittersRCV000625479
NM_005236.3(ERCC4):c.1812-5T>C	SNV Germline	Chr16:13937761	Conflicting classifications of pathogenicity	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q 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_005236.3(ERCC4):c.714G>A (p.Lys238=)	SNV Germline	Chr16:13928157	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7910255	rs_780166871	2 SubmittersRCV000651473 RCV004692038
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr)	SNV Germline	Chr19:45364541	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group D Xeroderma pigmentosum ERCC2-related disorder	Criteria Provided Conflicting Classifications		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 Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts		rs_745679643	4 SubmittersRCV000664637 RCV001385310 RCV001201195
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	5 SubmittersRCV000680142 RCV003314635
NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter)	SNV Germline	Chr2:127289763	Pathogenic	Xeroderma pigmentosum group B Xeroderma pigmentosum Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_138385061	3 SubmittersRCV000770819 RCV004800578 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 Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts		rs_746795177	4 SubmittersRCV000778549 RCV002535637 RCV004569485 RCV004800582
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu)	SNV Germline	Chr16:13935719	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Cockayne syndrome 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/Likely pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2020959	3 SubmittersRCV000822020 RCV001194781
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly)	SNV Germline	Chr16:13948019	Conflicting classifications of pathogenicity	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F 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 Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_2020961	3 SubmittersRCV000862022 RCV001292967 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 Inborn genetic diseases Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		rs_16979773	6 SubmittersRCV000880351 RCV001129004 RCV002409124 RCV002256581
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	Condition: not provided Xeroderma pigmentosum, group D Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_769750286	3 SubmittersRCV000927354 RCV001131819 RCV002346099
NM_004628.5(XPC):c.2250+6G>A	SNV Germline	Chr3:14148808	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group C Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		rs_201446851	3 SubmittersRCV000914044 RCV001146335 RCV002258039
NM_000400.4(ERCC2):c.1378-8C>T	SNV Germline	Chr19:45357379	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications		rs_558250151	3 SubmittersRCV002256598 RCV000917756
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 Inborn genetic diseases Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		rs_202156896	4 SubmittersRCV000931392 RCV001136194 RCV002400043 RCV002258050
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 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		rs_201840907	4 SubmittersRCV000967520 RCV001135983 RCV001294171 RCV002256635
NM_004628.5(XPC):c.1365C>T (p.Pro455=)	SNV Germline	Chr3:14158518	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Conflicting Classifications		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 not specified Xeroderma pigmentosum variant type	Criteria Provided Conflicting Classifications		rs_199562456	4 SubmittersRCV001090592 RCV003155358 RCV003132220
NM_000107.3(DDB2):c.59G>A (p.Arg20Lys)	SNV Germline	Chr11:47215195	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group E Xeroderma pigmentosum Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_373622283	5 SubmittersRCV001104633 RCV002258135 RCV002555027 RCV002555028
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 Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	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 Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	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 ERCC4-related disorder Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications		rs_200069811	3 SubmittersRCV001116323 RCV003898110 RCV002558148
NM_005236.3(ERCC4):c.973+11A>T	SNV Germline	Chr16:13930901	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q 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	Xeroderma pigmentosum, group D Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_200756227	3 SubmittersRCV001132598 RCV002418589 RCV002070546
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=)	SNV Germline	Chr19:45353099	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Inborn genetic diseases Xeroderma pigmentosum, group D Condition: not provided	Criteria Provided Conflicting Classifications		rs_368708674	5 SubmittersRCV002258138 RCV002411639 RCV001131687 RCV002070536
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp)	SNV Germline	Chr19:45353113	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided not specified	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	Condition: not provided Xeroderma pigmentosum, group D Inborn genetic diseases ERCC2-related disorder	Criteria Provided Conflicting Classifications		rs_116544270	5 SubmittersRCV001510707 RCV001132703 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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_369106754	4 SubmittersRCV001136195 RCV002070584 RCV002355119
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	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Conflicting Classifications		rs_756300837	2 SubmittersRCV001457378 RCV001144438
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, group C Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications		rs_199838876	3 SubmittersRCV001149249 RCV002557211 RCV002258144
NM_004628.5(XPC):c.536+11G>T	SNV Germline	Chr3:14168246	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group C Condition: not provided	Criteria Provided Conflicting Classifications		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	3 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	4 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	4 SubmittersRCV001200393 RCV001844271
NM_004628.5(XPC):c.1677C>G (p.Tyr559Ter)	SNV Germline	Chr3:14158206	Pathogenic	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts		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 Fanconi anemia complementation group Q Xeroderma pigmentosum, group F 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 Cockayne syndrome Fanconi anemia complementation group Q 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.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_004628.5(XPC):c.2T>G (p.Met1Arg)	SNV Germline	Chr3:14178567	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts		rs_760324503	2 SubmittersRCV001377067 RCV004800999
NM_005236.3(ERCC4):c.1102+1G>T	SNV Germline	Chr16:13932286	Likely pathogenic	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F 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	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F 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	3 SubmittersRCV001758572 RCV004577922
NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln)	SNV Germline	Chr19:45365091	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications		rs_150000483	3 SubmittersRCV002256833 RCV002540725
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter)	SNV Germline	Chr2:127286883	Pathogenic/Likely pathogenic	Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1055129064	2 SubmittersRCV002478003 RCV001780443
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 Cerebrooculofacioskeletal syndrome 3 Xeroderma pigmentosum, group G	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	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Condition: not provided ERCC4-Related Disorders	Criteria Provided Multiple Submitters No Conflicts		rs_753325454	3 SubmittersRCV001869789 RCV001817844 RCV004782796
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	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome	Criteria Provided Single Submitter		rs_762738968	1 SubmittersRCV001919468
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr)	SNV Germline	Chr19:45365077	Conflicting classifications of pathogenicity	Condition: not provided not specified Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications		rs_201382232	4 SubmittersRCV001926551 RCV002222744 RCV004728951
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)	SNV Germline	Chr16:13920223	Pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome	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 Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B	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_000107.3(DDB2):c.619C>T (p.Leu207=)	SNV Germline	Chr11:47234589	Conflicting classifications of pathogenicity	Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications		rs_753070223	2 SubmittersRCV002258481 RCV004809803
NM_000122.2(ERCC3):c.235-1G>A	SNV Germline	Chr2:127292847	Likely pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter		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.1805G>A (p.Gly602Asp)	SNV Germline	Chr19:45353109	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications			2 SubmittersRCV003064589 RCV004765643
NM_000400.4(ERCC2):c.1132C>T (p.Arg378Cys)	SNV Germline	Chr19:45361629	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Xeroderma pigmentosum, group D	Criteria Provided Conflicting Classifications			3 SubmittersRCV002605878 RCV002605879 RCV003388152
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)	SNV Germline	Chr16:13930789	Pathogenic	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Single Submitter			1 SubmittersRCV002595685
NM_004628.5(XPC):c.1872+1G>A	SNV Germline	Chr3:14158010	Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group C	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002666746 RCV003465807
NM_004628.5(XPC):c.1969G>T (p.Glu657Ter)	SNV Germline	Chr3:14156399	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			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 Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	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	Condition: not provided Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003561256 RCV003236423 RCV003466048
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 Germline	Chr3:14167168	Likely pathogenic	Xeroderma pigmentosum, group C Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003464896 RCV004765852
NM_004628.5(XPC):c.2421-2A>G	SNV Unknown	Chr3:14148003	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			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	Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F	Criteria Provided Single Submitter			1 SubmittersRCV003781677
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)	SNV Germline	Chr16:13937856	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q XFE progeroid syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003788402 RCV004784178
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)	SNV Germline	Chr16:13930803	Pathogenic	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003792676
NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)	SNV Germline	Chr13:102852234	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group G Condition: not provided Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003988755 RCV004780694 RCV004798985
NM_004628.5(XPC):c.856A>T (p.Arg286Ter)	SNV Germline	Chr3:14164857	Likely pathogenic	Xeroderma pigmentosum, group C	Criteria Provided Single Submitter			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
NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)	SNV Germline	Chr19:45355676	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004576392 RCV004587649
NM_000122.2(ERCC3):c.760C>T (p.Gln254Ter)	SNV Germline	Chr2:127289399	Pathogenic	Xeroderma pigmentosum group B	Criteria Provided Single Submitter			1 SubmittersRCV004595407
NM_000122.2(ERCC3):c.2065-1G>C	SNV Germline	Chr2:127259449	Likely pathogenic	Xeroderma pigmentosum group B	Criteria Provided Single Submitter			1 SubmittersRCV004698744
NM_005236.3(ERCC4):c.307C>T (p.Gln103Ter)	SNV Germline	Chr16:13922130	Pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter			1 SubmittersRCV004702685
NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)	SNV Germline	Chr19:45354772	Likely pathogenic	Xeroderma pigmentosum	Criteria Provided Single Submitter			1 SubmittersRCV004699966
NM_000123.4(ERCC5):c.265-2A>G	SNV Germline	Chr13:102853755	Likely pathogenic	Cerebrooculofacioskeletal syndrome 3 Xeroderma pigmentosum, group G	Criteria Provided Single Submitter			1 SubmittersRCV004797335

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
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA251394

rs_121965088

8 SubmittersRCV000000283 RCV001851508 RCV001260295

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
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251653

rs_104894133

11 SubmittersRCV000001051 RCV001420782 RCV000657642

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_000123.4(ERCC5):c.2878G>T (p.Glu960Ter)

SNV
Germline

Chr13:102872397

Pathogenic

Xeroderma pigmentosum
Xeroderma pigmentosum, group G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257525

rs_121434570

3 SubmittersRCV000587956 RCV000018034 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
Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Condition: not provided
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
XFE progeroid syndrome
Hutchinson-Gilford syndrome
Breast carcinoma
Carcinoma of pancreas
Fanconi anemia complementation group Q
Xeroderma pigmentosum
ERCC4-related disorder

Criteria Provided
Conflicting Classifications

CA126686

rs_121913049

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

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

Condition: not provided
Trichothiodystrophy 1, photosensitive
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 SubmittersRCV001851906 RCV000018270 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
Condition: not provided
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA126883

rs_121913020

6 SubmittersRCV000018274 RCV000424822 RCV000018273 RCV003466865

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

SNV
Germline

Chr19:45352580

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA126885

rs_121913021

7 SubmittersRCV002513098 RCV003153304 RCV000018275 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
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA126891

rs_121913024

6 SubmittersRCV000018278 RCV000171547 RCV001582486 RCV002468972

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

SNV
Germline

Chr19:45357295

Pathogenic

Xeroderma pigmentosum, group D

No Assertion Criteria Provided

CA257628

rs_121913025

1 SubmittersRCV000018282

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

SNV
Germline

Chr19:45352235

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA126893

rs_121913026

16 SubmittersRCV000018283 RCV000763052 RCV001199920 RCV001449816 RCV000677676 RCV000255624 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
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
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
ERCC4-Related Disorders
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA143933

rs_149364215

4 SubmittersRCV000049245 RCV001067959 RCV004700343 RCV003144119

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

SNV
Germline

Chr16:13928149

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA143938

rs_397509403

3 SubmittersRCV000049248 RCV001568088 RCV004814985

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

SNV
Germline

Chr16:13935697

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, type F/Cockayne syndrome
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
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
Condition: not provided
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum
Ovarian cancer
ERCC2-related disorder

Criteria Provided
Conflicting Classifications

CA158761

rs_147972150

7 SubmittersRCV000120770 RCV000893772 RCV001136196 RCV001292799 RCV001329858 RCV002258797 RCV003153388 RCV004542872

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

SNV
Germline

Chr19:45352648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158767

rs_34517175

6 SubmittersRCV000120772 RCV000860939 RCV001129001 RCV002257422 RCV004542873

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

SNV
Germline

Chr19:45352249

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA158773

rs_144564120

13 SubmittersRCV000120774 RCV000255243 RCV000778547 RCV000761018 RCV000990227 RCV001329855 RCV002515854 RCV003114266 RCV003467078

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
ERCC3-related disorder
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA158821

rs_568193912

5 SubmittersRCV000120790 RCV001462857 RCV003915201 RCV002258798

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

SNV
Germline

Chr2:127288840

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA248735

rs_145201970

11 SubmittersRCV000120800 RCV000765502 RCV001129472 RCV001362006 RCV002257425 RCV001294157 RCV004019680

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

SNV
Germline

Chr16:13948141

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158873

rs_374186605

7 SubmittersRCV000120810 RCV000535348 RCV002515858 RCV003153389 RCV003315749 RCV002470769 RCV002257428

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

SNV
Germline

Chr16:13948175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158876

rs_4986933

10 SubmittersRCV000120811 RCV000476568 RCV000989535 RCV001034545 RCV002515859 RCV002257429 RCV004704960

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

SNV
Germline

Chr16:13948330

Conflicting classifications of pathogenicity

not specified
Cockayne syndrome
Xeroderma pigmentosum, group F
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
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
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
Cockayne syndrome
Xeroderma pigmentosum, group F
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, group F
Xeroderma pigmentosum
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 RCV001116216 RCV002257432 RCV003224157 RCV003925183

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

SNV
Germline

Chr16:13935420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158912

rs_146601373

9 SubmittersRCV000120823 RCV000459235 RCV001034544 RCV002258800 RCV001117661 RCV004704961 RCV002515862

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

SNV
Germline

Chr16:13935347

Conflicting classifications of pathogenicity

not specified
Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
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.1606G>C (p.Val536Leu)

SNV
Germline

Chr16:13935538

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158933

rs_143347563

4 SubmittersRCV000120830 RCV000989533 RCV001854624 RCV004786378

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

SNV
Germline

Chr16:13935659

Conflicting classifications of pathogenicity

not specified
Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Condition: not provided
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 RCV001294105 RCV001357601 RCV002055332 RCV002257433 RCV002515863

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

SNV
Germline

Chr13:102846322

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158939

rs_34291397

9 SubmittersRCV000120832 RCV000995079 RCV001109705 RCV001293875 RCV002517588

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

SNV
Germline

Chr13:102873269

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158962

rs_574826021

5 SubmittersRCV000120838 RCV000356768 RCV000912403 RCV002256055

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

SNV
Germline

Chr13:102875698

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158978

rs_2227871

8 SubmittersRCV000120842 RCV000861420 RCV001112637 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.1177C>T (p.Arg393Trp)

SNV
Germline

Chr3:14158706

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA162910

rs_121965090

11 SubmittersRCV000122342 RCV000998003 RCV001146474 RCV002257448

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

SNV
Germline

Chr3:14158103

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA162916

rs_183238369

6 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

4 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

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
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
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Inflammatory bowel disease 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10587999

rs_758439420

6 SubmittersRCV000248679 RCV000812198 RCV002487166 RCV003463714 RCV004813082

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

SNV
Germline

Chr2:127292756

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA090899

rs_34295337

12 SubmittersRCV000255849 RCV001175535 RCV000986812 RCV002487171 RCV004757184

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 group B
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858080

rs_114710997

4 SubmittersRCV000402887 RCV002255366 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

Xeroderma pigmentosum group B
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858278

rs_769083884

3 SubmittersRCV000303849 RCV002255367 RCV002523083

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

SNV
Germline

Chr2:127289674

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858482

rs_781533251

2 SubmittersRCV000294077 RCV002521283

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

SNV
Germline

Chr2:127292802

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858572

rs_146938627

2 SubmittersRCV000407654 RCV002057569

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

SNV
Germline

Chr2:127259407

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858081

rs_114508982

4 SubmittersRCV000301311 RCV002256207 RCV002057567

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

SNV
Germline

Chr2:127259433

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum
Xeroderma pigmentosum group B

Criteria Provided
Conflicting Classifications

CA1858090

rs_151216904

7 SubmittersRCV001366056 RCV002256208 RCV000404854

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

SNV
Germline

Chr2:127272972

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858192

rs_746754189

2 SubmittersRCV000362103 RCV002057568

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

SNV
Germline

Chr2:127286890

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA1858342

rs_371396764

4 SubmittersRCV000263793 RCV000908712 RCV002255368

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

SNV
Germline

Chr2:127288661

Conflicting classifications of pathogenicity

Xeroderma pigmentosum group B
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1858385

rs_752026166

3 SubmittersRCV000334035 RCV002257645 RCV002521282

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
Xeroderma pigmentosum
POLH-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3827348

rs_151095678

4 SubmittersRCV000299804 RCV002258882 RCV003912527 RCV000911755

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

SNV
Germline

Chr6:43597692

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3826998

rs_185508862

3 SubmittersRCV000354571 RCV000998609

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

SNV
Germline

Chr6:43601025

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3827058

rs_61756403

4 SubmittersRCV000319612 RCV000959617

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

SNV
Germline

Chr6:43613681

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3827223

rs_758340317

2 SubmittersRCV000380775 RCV003669141

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

SNV
Germline

Chr6:43601065

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA3827066

rs_145530456

3 SubmittersRCV000355710 RCV002524483 RCV002257656

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

SNV
Germline

Chr6:43605326

Conflicting classifications of pathogenicity

Xeroderma pigmentosum variant type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3827170

rs_765856970

2 SubmittersRCV000294499 RCV003766053

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

SNV
Germline

Chr9:97687274

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided
XPA-related disorder

Criteria Provided
Conflicting Classifications

CA5148825

rs_373762653

4 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.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
Fanconi anemia complementation group Q
Cockayne syndrome

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

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
Fanconi anemia complementation group Q
Cockayne syndrome

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
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
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
Inborn genetic diseases
ERCC2-related disorder

Criteria Provided
Conflicting Classifications

CA9512876

rs_147128863

6 SubmittersRCV000390659 RCV000915697 RCV002418191 RCV004537834

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

SNV
Germline

Chr19:45352647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9512977

rs_145835916

6 SubmittersRCV000861246 RCV000990228 RCV002411223 RCV002257644

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

SNV
Germline

Chr19:45354751

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9513175

rs_375824454

4 SubmittersRCV000272985 RCV002392884 RCV002057518 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
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome

Criteria Provided
Conflicting Classifications

CA7910701

rs_372425414

2 SubmittersRCV000407678 RCV002522813

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

SNV
Germline

Chr16:13947888

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910719

rs_139406689

3 SubmittersRCV000863529 RCV001820940 RCV000354867

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
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA9513025

rs_376556895

11 SubmittersRCV000312948 RCV000489442 RCV000763054 RCV001195426 RCV003470315 RCV002523070

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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9512871

rs_546902024

4 SubmittersRCV000300493 RCV002429293 RCV002057517

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

SNV
Germline

Chr19:45357345

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10652530

rs_886054497

3 SubmittersRCV000363853 RCV003168490 RCV003727685

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

SNV
Germline

Chr19:45363924

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10652536

rs_886054498

2 SubmittersRCV000375762 RCV003698769

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

SNV
Germline

Chr19:45363977

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
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

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

Criteria Provided
Conflicting Classifications

CA7910134

rs_55761944

3 SubmittersRCV000473210 RCV002496767 RCV004822054

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

SNV
Germline

Chr9:97689600

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum group A
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA374187825

rs_104894131

5 SubmittersRCV000492893 RCV000672811 RCV004586740

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

SNV
Germline

Chr16:13926643

Conflicting classifications of pathogenicity

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2267485

rs_757958943

7 SubmittersRCV000505517 RCV001090469 RCV001175486

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

SNV
Germline

Chr16:13922051

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910129

rs_61760162

4 SubmittersRCV000560297 RCV001116102 RCV002257838 RCV003900232

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

SNV
Germline

Chr16:13922148

Conflicting classifications of pathogenicity

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2267274

rs_374117852

4 SubmittersRCV000589424 RCV000666668 RCV001390105

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

SNV
Germline

Chr2:127289508

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA1858466

rs_200361738

4 SubmittersRCV000612099 RCV001480670 RCV002256408

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

SNV
Germline

Chr13:102866665

Likely pathogenic

Xeroderma pigmentosum, group G

Criteria Provided
Single Submitter

CA388576262

rs_1244074570

2 SubmittersRCV000625479

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

SNV
Germline

Chr16:13937761

Conflicting classifications of pathogenicity

Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
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_005236.3(ERCC4):c.714G>A (p.Lys238=)

SNV
Germline

Chr16:13928157

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910255

rs_780166871

2 SubmittersRCV000651473 RCV004692038

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

SNV
Germline

Chr19:45364541

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

rs_745679643

4 SubmittersRCV000664637 RCV001385310 RCV001201195

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

5 SubmittersRCV000680142 RCV003314635

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

SNV
Germline

Chr2:127289763

Pathogenic

Xeroderma pigmentosum group B
Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_138385061

3 SubmittersRCV000770819 RCV004800578 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
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

rs_746795177

4 SubmittersRCV000778549 RCV002535637 RCV004569485 RCV004800582

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

SNV
Germline

Chr16:13935719

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Cockayne syndrome
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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2020959

3 SubmittersRCV000822020 RCV001194781

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

SNV
Germline

Chr16:13948019

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2020961

3 SubmittersRCV000862022 RCV001292967 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
Inborn genetic diseases
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

rs_16979773

6 SubmittersRCV000880351 RCV001129004 RCV002409124 RCV002256581

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

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

Criteria Provided
Conflicting Classifications

rs_769750286

3 SubmittersRCV000927354 RCV001131819 RCV002346099

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

SNV
Germline

Chr3:14148808

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group C
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

rs_201446851

3 SubmittersRCV000914044 RCV001146335 RCV002258039

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

SNV
Germline

Chr19:45357379

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_558250151

3 SubmittersRCV002256598 RCV000917756

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
Inborn genetic diseases
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

rs_202156896

4 SubmittersRCV000931392 RCV001136194 RCV002400043 RCV002258050

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
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

rs_201840907

4 SubmittersRCV000967520 RCV001135983 RCV001294171 RCV002256635

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

SNV
Germline

Chr3:14158518

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Conflicting Classifications

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
not specified
Xeroderma pigmentosum variant type

Criteria Provided
Conflicting Classifications

rs_199562456

4 SubmittersRCV001090592 RCV003155358 RCV003132220

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

SNV
Germline

Chr11:47215195

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373622283

5 SubmittersRCV001104633 RCV002258135 RCV002555027 RCV002555028

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

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

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

Criteria Provided
Conflicting Classifications

rs_200069811

3 SubmittersRCV001116323 RCV003898110 RCV002558148

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

SNV
Germline

Chr16:13930901

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

rs_200756227

3 SubmittersRCV001132598 RCV002418589 RCV002070546

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

SNV
Germline

Chr19:45353099

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_368708674

5 SubmittersRCV002258138 RCV002411639 RCV001131687 RCV002070536

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

SNV
Germline

Chr19:45353113

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group D
Condition: not provided
not specified

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

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

Criteria Provided
Conflicting Classifications

rs_116544270

5 SubmittersRCV001510707 RCV001132703 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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_369106754

4 SubmittersRCV001136195 RCV002070584 RCV002355119

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

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Conflicting Classifications

rs_756300837

2 SubmittersRCV001457378 RCV001144438

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, group C
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

rs_199838876

3 SubmittersRCV001149249 RCV002557211 RCV002258144

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

SNV
Germline

Chr3:14168246

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group C
Condition: not provided

Criteria Provided
Conflicting Classifications

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

3 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

4 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

4 SubmittersRCV001200393 RCV001844271

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

SNV
Germline

Chr3:14158206

Pathogenic

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

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
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
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
Cockayne syndrome
Fanconi anemia complementation group Q
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.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_004628.5(XPC):c.2T>G (p.Met1Arg)

SNV
Germline

Chr3:14178567

Pathogenic/Likely pathogenic

Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

rs_760324503

2 SubmittersRCV001377067 RCV004800999

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

SNV
Germline

Chr16:13932286

Likely pathogenic

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

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

3 SubmittersRCV001758572 RCV004577922

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

SNV
Germline

Chr19:45365091

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150000483

3 SubmittersRCV002256833 RCV002540725

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

SNV
Germline

Chr2:127286883

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1055129064

2 SubmittersRCV002478003 RCV001780443

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
Cerebrooculofacioskeletal syndrome 3
Xeroderma pigmentosum, group G

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_753325454

3 SubmittersRCV001869789 RCV001817844 RCV004782796

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

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

Criteria Provided
Single Submitter

rs_762738968

1 SubmittersRCV001919468

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

SNV
Germline

Chr19:45365077

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201382232

4 SubmittersRCV001926551 RCV002222744 RCV004728951

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

SNV
Germline

Chr16:13920223

Pathogenic

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

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
Trichothiodystrophy 2, photosensitive
Xeroderma pigmentosum group B

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_000107.3(DDB2):c.619C>T (p.Leu207=)

SNV
Germline

Chr11:47234589

Conflicting classifications of pathogenicity

Xeroderma pigmentosum
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753070223

2 SubmittersRCV002258481 RCV004809803

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

SNV
Germline

Chr2:127292847

Likely pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

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.1805G>A (p.Gly602Asp)

SNV
Germline

Chr19:45353109

Conflicting classifications of pathogenicity

Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003064589 RCV004765643

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

SNV
Germline

Chr19:45361629

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002605878 RCV002605879 RCV003388152

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

SNV
Germline

Chr16:13930789

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002595685

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

SNV
Germline

Chr3:14158010

Likely pathogenic

Condition: not provided
Xeroderma pigmentosum, group C

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002666746 RCV003465807

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

SNV
Germline

Chr3:14156399

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

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

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

Condition: not provided
Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003561256 RCV003236423 RCV003466048

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
Germline

Chr3:14167168

Likely pathogenic

Xeroderma pigmentosum, group C
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003464896 RCV004765852

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

SNV
Unknown

Chr3:14148003

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

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

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

Criteria Provided
Single Submitter

1 SubmittersRCV003781677

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

SNV
Germline

Chr16:13937856

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003788402 RCV004784178

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

SNV
Germline

Chr16:13930803

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003792676

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

SNV
Germline

Chr13:102852234

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, group G
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003988755 RCV004780694 RCV004798985

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

SNV
Germline

Chr3:14164857

Likely pathogenic

Xeroderma pigmentosum, group C

Criteria Provided
Single Submitter

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

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

SNV
Germline

Chr19:45355676

Pathogenic/Likely pathogenic

Cerebrooculofacioskeletal syndrome 2
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004576392 RCV004587649

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

SNV
Germline

Chr2:127289399

Pathogenic

Xeroderma pigmentosum group B

Criteria Provided
Single Submitter

1 SubmittersRCV004595407

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

SNV
Germline

Chr2:127259449

Likely pathogenic

Xeroderma pigmentosum group B

Criteria Provided
Single Submitter

1 SubmittersRCV004698744

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

SNV
Germline

Chr16:13922130

Pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

1 SubmittersRCV004702685

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

SNV
Germline

Chr19:45354772

Likely pathogenic

Xeroderma pigmentosum

Criteria Provided
Single Submitter

1 SubmittersRCV004699966

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

SNV
Germline

Chr13:102853755

Likely pathogenic

Cerebrooculofacioskeletal syndrome 3
Xeroderma pigmentosum, group G

Criteria Provided
Single Submitter

1 SubmittersRCV004797335