Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_138701.4(MPLKIP):c.430A>G (p.Met144Val)	SNV Germline	Chr7:40133169	Pathogenic/Likely pathogenic	Trichothiodystrophy 4, nonphotosensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115222	rs_137853117	3 SubmittersRCV000001918 RCV002512662
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter)	SNV Germline	Chr6:158192107	Pathogenic/Likely pathogenic	Trichothiodystrophy 3, photosensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115339	rs_121434364	3 SubmittersRCV000002184 RCV000377505
NM_207118.3(GTF2H5):c.62T>C (p.Leu21Pro)	SNV Germline	Chr6:158192003	Pathogenic	Trichothiodystrophy 3, photosensitive	No Assertion Criteria Provided	CA115342	rs_121434365	1 SubmittersRCV000002185
NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser)	SNV Germline	Chr2:127292785	Pathogenic	Xeroderma pigmentosum group B Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Single Submitter	CA257543	rs_121913045	2 SubmittersRCV000018051 RCV005025066
NM_000122.2(ERCC3):c.355A>C (p.Thr119Pro)	SNV Germline	Chr2:127292726	Pathogenic	Trichothiodystrophy 2, photosensitive	No Assertion Criteria Provided	CA126690	rs_121913046	1 SubmittersRCV000018052
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)	SNV Germline	Chr2:127286772	Pathogenic	Condition: not provided Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA257545	rs_121913047	6 SubmittersRCV001851900 RCV004541009 RCV000018053 RCV005025067 RCV002513092
NM_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.2173G>C (p.Ala725Pro)	SNV Germline	Chr19:45352226	Pathogenic/Likely pathogenic	Trichothiodystrophy 1, photosensitive Condition: not provided Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum Inborn genetic diseases Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA126881	rs_121913018	7 SubmittersRCV000018270 RCV001851906 RCV002490383 RCV003155035 RCV003343601 RCV003460482
NM_000400.4(ERCC2):c.335G>A (p.Arg112His)	SNV Germline	Chr19:45368655	Pathogenic	Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA126883	rs_121913020	6 SubmittersRCV000018274 RCV000018273 RCV000424822 RCV003466865
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)	SNV Germline	Chr19:45352580	Pathogenic/Likely pathogenic	Trichothiodystrophy 1, photosensitive Condition: not provided Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Ovarian cancer Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA126885	rs_121913021	7 SubmittersRCV000018275 RCV002513098 RCV002482884 RCV003153304 RCV003460483
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)	SNV Germline	Chr19:45352802	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Condition: not provided Xeroderma pigmentosum, group D Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA126891	rs_121913024	7 SubmittersRCV000171547 RCV001582486 RCV000018278 RCV005016278 RCV002468972
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	SNV Germline	Chr19:45352235	Pathogenic	Trichothiodystrophy 1, photosensitive Condition: not provided Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy Hypotrichosis simplex ERCC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA126893	rs_121913026	16 SubmittersRCV000018283 RCV000255624 RCV000677676 RCV000763052 RCV001199920 RCV001449816 RCV004532382
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)	SNV Germline	Chr19:45352352	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group D Inborn genetic diseases Condition: not provided Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA257630	rs_41556519	8 SubmittersRCV000018284 RCV000623275 RCV000518900 RCV000763053 RCV003460484
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys)	SNV Germline	Chr19:45370191	Conflicting classifications of pathogenicity	not specified Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Condition: not provided Ovarian cancer Xeroderma pigmentosum, group D Xeroderma pigmentosum ERCC2-related disorder	Criteria Provided Conflicting Classifications	CA158761	rs_147972150	8 SubmittersRCV000120770 RCV001292799 RCV001329858 RCV000893772 RCV003153388 RCV001136196 RCV002258797 RCV004542872
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val)	SNV Germline	Chr19:45352648	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group D Xeroderma pigmentosum ERCC2-related disorder Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Conflicting Classifications	CA158767	rs_34517175	7 SubmittersRCV000120772 RCV000860939 RCV001129001 RCV002257422 RCV004542873 RCV005400425
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	SNV Germline	Chr19:45352249	Pathogenic/Likely pathogenic	not specified Condition: not provided ERCC2-related disorder Trichothiodystrophy 1, photosensitive Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified Xeroderma pigmentosum, group D Inborn genetic diseases Xeroderma pigmentosum Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA158773	rs_144564120	15 SubmittersRCV000120774 RCV000255243 RCV000778547 RCV001329855 RCV000761018 RCV000990227 RCV002515854 RCV003114266 RCV005025191
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys)	SNV Germline	Chr2:127288840	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B Inborn genetic diseases Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA248735	rs_145201970	13 SubmittersRCV000120800 RCV000765502 RCV001294157 RCV001129472 RCV004019680 RCV001362006 RCV002257425
NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter)	SNV Germline	ChrX:119870713	Likely pathogenic	Trichothiodystrophy 5, nonphotosensitive Condition: not provided	Criteria Provided Single Submitter	CA200233	rs_794726863	2 SubmittersRCV000173011 RCV005625364
NM_138701.4(MPLKIP):c.339+1G>A	SNV Germline	Chr7:40134228	Pathogenic	Trichothiodystrophy 4, nonphotosensitive	Criteria Provided Single Submitter	CA354090	rs_869312900	1 SubmittersRCV000210474
NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro)	SNV Germline	Chr8:30612400	Pathogenic	Trichothiodystrophy 6, nonphotosensitive	No Assertion Criteria Provided	CA10576099	rs_875989846	1 SubmittersRCV000211060
NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr)	SNV Germline	Chr8:30607141	Pathogenic	Trichothiodystrophy 6, nonphotosensitive	Criteria Provided Single Submitter	CA10576100	rs_875989847	2 SubmittersRCV000211077
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile)	SNV Germline	Chr16:70262353	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Inborn genetic diseases Developmental and epileptic encephalopathy, 29 Trichothiodystrophy 8, nonphotosensitive	Criteria Provided Conflicting Classifications	CA8140738	rs_144982168	5 SubmittersRCV000236958 RCV001203095 RCV002461030 RCV004730916
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	SNV Germline	Chr19:45352351	Pathogenic	Xeroderma pigmentosum, group D Condition: not provided Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Inflammatory bowel disease 1 Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA10587999	rs_758439420	7 SubmittersRCV000248679 RCV000812198 RCV002487166 RCV004813082 RCV003463714
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	SNV Germline	Chr2:127292756	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B ERCC3-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA090899	rs_34295337	15 SubmittersRCV000255849 RCV001175535 RCV000986812 RCV002487171 RCV004757184 RCV005251109
NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr)	SNV Germline	Chr2:127259433	Conflicting classifications of pathogenicity	Xeroderma pigmentosum group B Condition: not provided Xeroderma pigmentosum Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Conflicting Classifications	CA1858090	rs_151216904	8 SubmittersRCV000404854 RCV001366056 RCV002256208 RCV005018692
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	SNV Germline	Chr19:45352801	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group D Condition: not provided Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Inborn genetic diseases Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA9513025	rs_376556895	11 SubmittersRCV000312948 RCV000489442 RCV000763054 RCV002523070 RCV001195426 RCV003470315
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr)	SNV Germline	Chr19:45364274	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D	Criteria Provided Multiple Submitters No Conflicts	CA9513634	rs_370454709	5 SubmittersRCV000435999 RCV002256206 RCV003470316 RCV005025467
NM_000400.4(ERCC2):c.1666-2A>T	SNV Germline	Chr19:45353336	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D	Criteria Provided Multiple Submitters No Conflicts	CA16620862	rs_199658345	4 SubmittersRCV000479437 RCV003470562 RCV005018808
NM_207118.3(GTF2H5):c.36-2A>G	SNV Germline	Chr6:158191975	Likely pathogenic	Trichothiodystrophy 3, photosensitive	Criteria Provided Single Submitter	CA4071588	rs_765378190	1 SubmittersRCV000714570
NM_000400.4(ERCC2):c.1636G>A (p.Glu546Lys)	SNV Unknown	Chr19:45354759	Likely pathogenic	Trichothiodystrophy	Criteria Provided Single Submitter	CA9513181	rs_769146546	1 SubmittersRCV000785056
NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter)	SNV Germline	Chr19:45365053	Pathogenic/Likely pathogenic	ERCC2-related disorder Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9513783	rs_151235136	5 SubmittersRCV000784900 RCV003461060 RCV005231325 RCV005029440 RCV003558587
NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter)	SNV Germline	Chr5:33466874	Pathogenic	Trichothiodystrophy 7, nonphotosensitive	No Assertion Criteria Provided	CA3223553	rs_749888012	1 SubmittersRCV000850111
NM_152295.5(TARS1):c.826A>G (p.Lys276Glu)	SNV Germline	Chr5:33456216	Pathogenic	Trichothiodystrophy 7, nonphotosensitive	No Assertion Criteria Provided	CA359371749	rs_1579585658	1 SubmittersRCV000850112
NM_152295.5(TARS1):c.680T>C (p.Leu227Pro)	SNV Germline	Chr5:33455691	Pathogenic	Trichothiodystrophy 7, nonphotosensitive	No Assertion Criteria Provided	CA359371263	rs_1579584983	1 SubmittersRCV000850113
NM_000122.2(ERCC3):c.417C>T (p.Tyr139=)	SNV Germline	Chr2:127292664	Conflicting classifications of pathogenicity	Condition: not provided Trichothiodystrophy 2, photosensitive ERCC3-related disorder	Criteria Provided Conflicting Classifications	CA1858551	rs_529637184	6 SubmittersRCV000894918 RCV001294156 RCV003958021
NM_000400.4(ERCC2):c.2191-4G>A	SNV Germline	Chr19:45351725	Conflicting classifications of pathogenicity	Condition: not provided Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA9512820	rs_201840907	4 SubmittersRCV000967520 RCV001294171 RCV001135983 RCV002256635
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter)	SNV Germline	Chr2:127279315	Pathogenic/Likely pathogenic	Condition: not provided Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B	Criteria Provided Multiple Submitters No Conflicts	CA348388639	rs_1302552127	3 SubmittersRCV000997199 RCV005029555
NM_001605.3(AARS1):c.1007A>G (p.His336Arg)	SNV Germline	Chr16:70268335	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Trichothiodystrophy 8, nonphotosensitive Developmental and epileptic encephalopathy, 29	Criteria Provided Conflicting Classifications	CA283438550	rs_1025002934	2 SubmittersRCV001070788 RCV004731088
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp)	SNV Germline	Chr19:45353113	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided not specified Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D	Criteria Provided Conflicting Classifications	CA9513075	rs_753641926	7 SubmittersRCV001131689 RCV001267911 RCV002282460 RCV005400488
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)	SNV Germline	Chr19:45357512	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group D Condition: not provided Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications	CA9513344	rs_141457460	3 SubmittersRCV001136105 RCV003405337 RCV001294169
NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter)	SNV Germline	Chr6:158192104	Pathogenic	Trichothiodystrophy 3, photosensitive	No Assertion Criteria Provided	CA366253596	rs_1777038679	1 SubmittersRCV001251629
NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter)	SNV Germline	Chr6:158191990	Pathogenic	Trichothiodystrophy 3, photosensitive Condition: not provided	Criteria Provided Single Submitter	CA366253207	rs_1777036380	2 SubmittersRCV001251630 RCV005057158
NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys)	SNV Germline	Chr6:158170532	Pathogenic	Trichothiodystrophy 3, photosensitive	No Assertion Criteria Provided	CA366250865	rs_1785841426	1 SubmittersRCV001251631
NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)	SNV Germline	Chr2:127280620	Pathogenic/Likely pathogenic	Condition: not provided Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B Xeroderma pigmentosum group B	Criteria Provided Multiple Submitters No Conflicts	CA1858281	rs_150954655	4 SubmittersRCV001871730 RCV005014332 RCV001523810
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)	SNV Germline	Chr19:45352801	Conflicting classifications of pathogenicity	Condition: not provided Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 ERCC2-related disorder Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Conflicting Classifications	CA308951355	rs_376556895	6 SubmittersRCV001780237 RCV001292729 RCV002256728 RCV003469508 RCV004531070 RCV005029860
NM_000400.4(ERCC2):c.1267G>A (p.Asp423Asn)	SNV Germline	Chr19:45357670	Conflicting classifications of pathogenicity	Condition: not provided Xeroderma pigmentosum Inborn genetic diseases not specified Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications	CA9513390	rs_143710107	7 SubmittersRCV001323801 RCV002259105 RCV002545132 RCV004800977 RCV005400502
NM_000400.4(ERCC2):c.595-10G>A	SNV Germline	Chr19:45364557	Conflicting classifications of pathogenicity	Trichothiodystrophy 1, photosensitive Condition: not provided Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA9513705	rs_761737358	3 SubmittersRCV001331198 RCV001871815 RCV003387999
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys)	SNV Germline	Chr19:45368656	Conflicting classifications of pathogenicity	Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 not specified Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Conflicting Classifications	CA9513829	rs_760820378	3 SubmittersRCV001329857 RCV003469559 RCV004690082 RCV005014439
NM_000400.4(ERCC2):c.139G>A (p.Gly47Arg)	SNV Germline	Chr19:45369114	Pathogenic	Condition: not provided Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA406379545	rs_1360631927	3 SubmittersRCV001531476 RCV003994304 RCV005023184
NM_000400.4(ERCC2):c.1585G>A (p.Ala529Thr)	SNV Germline	Chr19:45354810	Conflicting classifications of pathogenicity	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications	CA9513194	rs_370819591	3 SubmittersRCV001576927 RCV005014595
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter)	SNV Germline	Chr19:45352256	Conflicting classifications of pathogenicity	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications	CA9512870	rs_774392894	5 SubmittersRCV001765013 RCV003464127 RCV005419200 RCV005014629
NM_000400.4(ERCC2):c.1377+2T>C	SNV Germline	Chr19:45357472	Conflicting classifications of pathogenicity	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications	CA9513333	rs_201505264	4 SubmittersRCV001774101 RCV003470884 RCV005014634
NM_006978.3(RNF113A):c.860T>C (p.Leu287Pro)	SNV Germline	ChrX:119870754	Conflicting classifications of pathogenicity	Condition: not provided Trichothiodystrophy 5, nonphotosensitive	Criteria Provided Conflicting Classifications	CA414186689	rs_2147812233	2 SubmittersRCV001754988 RCV002466694
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly)	SNV Germline	Chr19:45351717	Conflicting classifications of pathogenicity	Condition: not provided Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Conflicting Classifications	CA9512816	rs_201828535	3 SubmittersRCV002077207 RCV001788837 RCV004571087
NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr19:45352568	Pathogenic	Condition: not provided Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA9512950	rs_778479250	6 SubmittersRCV001837550 RCV002291301 RCV003470890
NM_000400.4(ERCC2):c.1759-2A>G	SNV Germline	Chr19:45353157	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA9513089	rs_774936846	4 SubmittersRCV003237447 RCV003470891 RCV005014652
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter)	SNV Germline	Chr2:127286883	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA348389868	rs_1055129064	2 SubmittersRCV001780443 RCV002478003
NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly)	SNV Germline	Chr19:45352580	Likely pathogenic	Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Single Submitter	CA406363209	rs_121913021	1 SubmittersRCV001799560
NM_001605.3(AARS1):c.2702G>A (p.Cys901Tyr)	SNV Germline	Chr16:70253287	Pathogenic	Trichothiodystrophy 8, nonphotosensitive	No Assertion Criteria Provided	CA396554629	rs_2152149706	1 SubmittersRCV001804212
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp)	SNV Germline	Chr19:45352556	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA9512943	rs_752510317	4 SubmittersRCV001947789 RCV003471050 RCV003992580
NM_000122.2(ERCC3):c.657+1G>A	SNV Germline	Chr2:127289688	Likely pathogenic	Condition: not provided Xeroderma pigmentosum Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA1858486	rs_56116802	3 SubmittersRCV001973143 RCV002266076 RCV005025553
NM_000400.4(ERCC2):c.1963G>T (p.Asp655Tyr)	SNV Germline	Chr19:45352589	Conflicting classifications of pathogenicity	Condition: not provided Trichothiodystrophy 1, photosensitive not specified	Criteria Provided Conflicting Classifications	CA406363270	rs_1411740455	4 SubmittersRCV001987983 RCV002292383 RCV003317559
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr)	SNV Germline	Chr19:45365077	Conflicting classifications of pathogenicity	Condition: not provided not specified Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive	Criteria Provided Conflicting Classifications	CA9513788	rs_201382232	5 SubmittersRCV001926551 RCV002222744 RCV004728951
NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter)	SNV Germline	Chr19:45357497	Pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D	Criteria Provided Multiple Submitters No Conflicts	CA308959192	rs_199643821	4 SubmittersRCV001942186 RCV003471163 RCV005016946
NM_000400.4(ERCC2):c.1480-2A>C	SNV Germline	Chr19:45355730	Pathogenic/Likely pathogenic	Condition: not provided Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA406366011	rs_1971989621	2 SubmittersRCV002050221 RCV005023282
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter)	SNV Germline	Chr2:127279183	Pathogenic/Likely pathogenic	Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1858212	rs_768687646	2 SubmittersRCV002507014 RCV001935189
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter)	SNV Germline	Chr2:127259382	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B	Criteria Provided Multiple Submitters No Conflicts	CA1858073	rs_763315862	4 SubmittersRCV001956455 RCV002564395 RCV003136379 RCV005025533
NM_000400.4(ERCC2):c.1308-2A>G	SNV Germline	Chr19:45357545	Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA9513353	rs_766369300	3 SubmittersRCV002021331 RCV005017086 RCV003471277
NM_000400.4(ERCC2):c.2191-1G>A	SNV Germline	Chr19:45351722	Pathogenic	Trichothiodystrophy 1, photosensitive	No Assertion Criteria Provided	CA406360648	rs_2513994806	1 SubmittersRCV002292387
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)	SNV Germline	Chr2:127286745	Pathogenic/Likely pathogenic	Xeroderma pigmentosum group B Xeroderma pigmentosum Condition: not provided Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA348389568	rs_1434876636	4 SubmittersRCV002472162 RCV003317611 RCV003730245 RCV005019216
NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter)	SNV Germline	Chr19:45363844	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA406372750	rs_1412068236	3 SubmittersRCV003084939 RCV005028233 RCV003465963
NM_000400.4(ERCC2):c.1480-1G>C	SNV Germline	Chr19:45355729	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA9513253	rs_375284572	4 SubmittersRCV003082744 RCV003465960 RCV004783010
NM_000122.2(ERCC3):c.1828-1G>C	SNV Germline	Chr2:127271454	Likely pathogenic	Condition: not provided Xeroderma pigmentosum group B Trichothiodystrophy 2, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA1858160	rs_755760603	2 SubmittersRCV002622145 RCV005025908
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)	SNV Germline	Chr19:45353112	Pathogenic/Likely pathogenic	Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9513074	rs_140522180	4 SubmittersRCV003317740 RCV003459829 RCV005021903 RCV003561292
NM_000400.4(ERCC2):c.361-1G>A	SNV Germline	Chr19:45365159	Pathogenic	Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D	Criteria Provided Multiple Submitters No Conflicts	CA9513812	rs_773645934	2 SubmittersRCV003467918 RCV005030037
NM_000400.4(ERCC2):c.2125A>C (p.Thr709Pro)	SNV Germline	Chr19:45352274	Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Multiple Submitters No Conflicts	CA9512879	rs_758758729	2 SubmittersRCV003725638 RCV005014903
NM_001605.3(AARS1):c.673G>C (p.Glu225Gln)	SNV Germline	Chr16:70270339	Likely pathogenic	Trichothiodystrophy 8, nonphotosensitive	Criteria Provided Single Submitter	CA396565701	rs_2507018118	1 SubmittersRCV003990408
NM_000400.4(ERCC2):c.570C>A (p.Cys190Ter)	SNV Germline	Chr19:45364862	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Trichothiodystrophy 1, photosensitive	Criteria Provided Multiple Submitters No Conflicts		rs_2514033921	3 SubmittersRCV005101926 RCV004576377 RCV005023578
NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)	SNV Germline	Chr19:45355676	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts		rs_772572683	3 SubmittersRCV005023579 RCV004576392 RCV004587649
NM_138701.4(MPLKIP):c.135C>G (p.Tyr45Ter)	SNV Germline	Chr7:40134433	Pathogenic/Likely pathogenic	Trichothiodystrophy 4, nonphotosensitive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004596699
NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)	SNV Germline	Chr19:45354772	Likely pathogenic	Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004699966 RCV005017218
NM_001605.3(AARS1):c.1993-1G>A	SNV Germline	Chr16:70258218	Likely pathogenic	Trichothiodystrophy 8, nonphotosensitive	Criteria Provided Single Submitter			1 SubmittersRCV004764472
NM_000400.4(ERCC2):c.1543+2T>A	SNV Germline	Chr19:45355663	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Single Submitter			1 SubmittersRCV005015782
NM_000400.4(ERCC2):c.566G>A (p.Trp189Ter)	SNV Germline	Chr19:45364866	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Single Submitter			1 SubmittersRCV005015788
NM_000400.4(ERCC2):c.2190+1G>C	SNV Germline	Chr19:45352208	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Single Submitter			1 SubmittersRCV005015778
NM_000400.4(ERCC2):c.1987T>C (p.Cys663Arg)	SNV Germline	Chr19:45352565	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive	Criteria Provided Single Submitter			1 SubmittersRCV005015780

NM_138701.4(MPLKIP):c.430A>G (p.Met144Val)

SNV
Germline

Chr7:40133169

Pathogenic/Likely pathogenic

Trichothiodystrophy 4, nonphotosensitive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115222

rs_137853117

3 SubmittersRCV000001918 RCV002512662

NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter)

SNV
Germline

Chr6:158192107

Pathogenic/Likely pathogenic

Trichothiodystrophy 3, photosensitive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115339

rs_121434364

3 SubmittersRCV000002184 RCV000377505

NM_207118.3(GTF2H5):c.62T>C (p.Leu21Pro)

SNV
Germline

Chr6:158192003

Pathogenic

Trichothiodystrophy 3, photosensitive

No Assertion Criteria Provided

CA115342

rs_121434365

1 SubmittersRCV000002185

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

SNV
Germline

Chr2:127292785

Pathogenic

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

Criteria Provided
Single Submitter

CA257543

rs_121913045

2 SubmittersRCV000018051 RCV005025066

NM_000122.2(ERCC3):c.355A>C (p.Thr119Pro)

SNV
Germline

Chr2:127292726

Pathogenic

Trichothiodystrophy 2, photosensitive

No Assertion Criteria Provided

CA126690

rs_121913046

1 SubmittersRCV000018052

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

SNV
Germline

Chr2:127286772

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA257545

rs_121913047

6 SubmittersRCV001851900 RCV004541009 RCV000018053 RCV005025067 RCV002513092

NM_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.2173G>C (p.Ala725Pro)

SNV
Germline

Chr19:45352226

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA126881

rs_121913018

7 SubmittersRCV000018270 RCV001851906 RCV002490383 RCV003155035 RCV003343601 RCV003460482

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

SNV
Germline

Chr19:45368655

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA126883

rs_121913020

6 SubmittersRCV000018274 RCV000018273 RCV000424822 RCV003466865

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

SNV
Germline

Chr19:45352580

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA126885

rs_121913021

7 SubmittersRCV000018275 RCV002513098 RCV002482884 RCV003153304 RCV003460483

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

SNV
Germline

Chr19:45352802

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA126891

rs_121913024

7 SubmittersRCV000171547 RCV001582486 RCV000018278 RCV005016278 RCV002468972

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

SNV
Germline

Chr19:45352235

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA126893

rs_121913026

16 SubmittersRCV000018283 RCV000255624 RCV000677676 RCV000763052 RCV001199920 RCV001449816 RCV004532382

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

SNV
Germline

Chr19:45352352

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA257630

rs_41556519

8 SubmittersRCV000018284 RCV000623275 RCV000518900 RCV000763053 RCV003460484

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

SNV
Germline

Chr19:45370191

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158761

rs_147972150

8 SubmittersRCV000120770 RCV001292799 RCV001329858 RCV000893772 RCV003153388 RCV001136196 RCV002258797 RCV004542872

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

SNV
Germline

Chr19:45352648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158767

rs_34517175

7 SubmittersRCV000120772 RCV000860939 RCV001129001 RCV002257422 RCV004542873 RCV005400425

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

SNV
Germline

Chr19:45352249

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA158773

rs_144564120

15 SubmittersRCV000120774 RCV000255243 RCV000778547 RCV001329855 RCV000761018 RCV000990227 RCV002515854 RCV003114266 RCV005025191

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

SNV
Germline

Chr2:127288840

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA248735

rs_145201970

13 SubmittersRCV000120800 RCV000765502 RCV001294157 RCV001129472 RCV004019680 RCV001362006 RCV002257425

NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter)

SNV
Germline

ChrX:119870713

Likely pathogenic

Trichothiodystrophy 5, nonphotosensitive
Condition: not provided

Criteria Provided
Single Submitter

CA200233

rs_794726863

2 SubmittersRCV000173011 RCV005625364

NM_138701.4(MPLKIP):c.339+1G>A

SNV
Germline

Chr7:40134228

Pathogenic

Trichothiodystrophy 4, nonphotosensitive

Criteria Provided
Single Submitter

CA354090

rs_869312900

1 SubmittersRCV000210474

NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro)

SNV
Germline

Chr8:30612400

Pathogenic

Trichothiodystrophy 6, nonphotosensitive

No Assertion Criteria Provided

CA10576099

rs_875989846

1 SubmittersRCV000211060

NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr)

SNV
Germline

Chr8:30607141

Pathogenic

Trichothiodystrophy 6, nonphotosensitive

Criteria Provided
Single Submitter

CA10576100

rs_875989847

2 SubmittersRCV000211077

NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile)

SNV
Germline

Chr16:70262353

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Developmental and epileptic encephalopathy, 29
Trichothiodystrophy 8, nonphotosensitive

Criteria Provided
Conflicting Classifications

CA8140738

rs_144982168

5 SubmittersRCV000236958 RCV001203095 RCV002461030 RCV004730916

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

SNV
Germline

Chr19:45352351

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10587999

rs_758439420

7 SubmittersRCV000248679 RCV000812198 RCV002487166 RCV004813082 RCV003463714

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

SNV
Germline

Chr2:127292756

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA090899

rs_34295337

15 SubmittersRCV000255849 RCV001175535 RCV000986812 RCV002487171 RCV004757184 RCV005251109

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

SNV
Germline

Chr2:127259433

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1858090

rs_151216904

8 SubmittersRCV000404854 RCV001366056 RCV002256208 RCV005018692

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

SNV
Germline

Chr19:45352801

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9513025

rs_376556895

11 SubmittersRCV000312948 RCV000489442 RCV000763054 RCV002523070 RCV001195426 RCV003470315

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

SNV
Germline

Chr19:45364274

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9513634

rs_370454709

5 SubmittersRCV000435999 RCV002256206 RCV003470316 RCV005025467

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

SNV
Germline

Chr19:45353336

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620862

rs_199658345

4 SubmittersRCV000479437 RCV003470562 RCV005018808

NM_207118.3(GTF2H5):c.36-2A>G

SNV
Germline

Chr6:158191975

Likely pathogenic

Trichothiodystrophy 3, photosensitive

Criteria Provided
Single Submitter

CA4071588

rs_765378190

1 SubmittersRCV000714570

NM_000400.4(ERCC2):c.1636G>A (p.Glu546Lys)

SNV
Unknown

Chr19:45354759

Likely pathogenic

Trichothiodystrophy

Criteria Provided
Single Submitter

CA9513181

rs_769146546

1 SubmittersRCV000785056

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

SNV
Germline

Chr19:45365053

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9513783

rs_151235136

5 SubmittersRCV000784900 RCV003461060 RCV005231325 RCV005029440 RCV003558587

NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter)

SNV
Germline

Chr5:33466874

Pathogenic

Trichothiodystrophy 7, nonphotosensitive

No Assertion Criteria Provided

CA3223553

rs_749888012

1 SubmittersRCV000850111

NM_152295.5(TARS1):c.826A>G (p.Lys276Glu)

SNV
Germline

Chr5:33456216

Pathogenic

Trichothiodystrophy 7, nonphotosensitive

No Assertion Criteria Provided

CA359371749

rs_1579585658

1 SubmittersRCV000850112

NM_152295.5(TARS1):c.680T>C (p.Leu227Pro)

SNV
Germline

Chr5:33455691

Pathogenic

Trichothiodystrophy 7, nonphotosensitive

No Assertion Criteria Provided

CA359371263

rs_1579584983

1 SubmittersRCV000850113

NM_000122.2(ERCC3):c.417C>T (p.Tyr139=)

SNV
Germline

Chr2:127292664

Conflicting classifications of pathogenicity

Condition: not provided
Trichothiodystrophy 2, photosensitive
ERCC3-related disorder

Criteria Provided
Conflicting Classifications

CA1858551

rs_529637184

6 SubmittersRCV000894918 RCV001294156 RCV003958021

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

SNV
Germline

Chr19:45351725

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9512820

rs_201840907

4 SubmittersRCV000967520 RCV001294171 RCV001135983 RCV002256635

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

SNV
Germline

Chr2:127279315

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348388639

rs_1302552127

3 SubmittersRCV000997199 RCV005029555

NM_001605.3(AARS1):c.1007A>G (p.His336Arg)

SNV
Germline

Chr16:70268335

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Trichothiodystrophy 8, nonphotosensitive
Developmental and epileptic encephalopathy, 29

Criteria Provided
Conflicting Classifications

CA283438550

rs_1025002934

2 SubmittersRCV001070788 RCV004731088

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

SNV
Germline

Chr19:45353113

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9513075

rs_753641926

7 SubmittersRCV001131689 RCV001267911 RCV002282460 RCV005400488

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

SNV
Germline

Chr19:45357512

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9513344

rs_141457460

3 SubmittersRCV001136105 RCV003405337 RCV001294169

NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter)

SNV
Germline

Chr6:158192104

Pathogenic

Trichothiodystrophy 3, photosensitive

No Assertion Criteria Provided

CA366253596

rs_1777038679

1 SubmittersRCV001251629

NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter)

SNV
Germline

Chr6:158191990

Pathogenic

Trichothiodystrophy 3, photosensitive
Condition: not provided

Criteria Provided
Single Submitter

CA366253207

rs_1777036380

2 SubmittersRCV001251630 RCV005057158

NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys)

SNV
Germline

Chr6:158170532

Pathogenic

Trichothiodystrophy 3, photosensitive

No Assertion Criteria Provided

CA366250865

rs_1785841426

1 SubmittersRCV001251631

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

SNV
Germline

Chr2:127280620

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1858281

rs_150954655

4 SubmittersRCV001871730 RCV005014332 RCV001523810

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

SNV
Germline

Chr19:45352801

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA308951355

rs_376556895

6 SubmittersRCV001780237 RCV001292729 RCV002256728 RCV003469508 RCV004531070 RCV005029860

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

SNV
Germline

Chr19:45357670

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9513390

rs_143710107

7 SubmittersRCV001323801 RCV002259105 RCV002545132 RCV004800977 RCV005400502

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

SNV
Germline

Chr19:45364557

Conflicting classifications of pathogenicity

Trichothiodystrophy 1, photosensitive
Condition: not provided
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA9513705

rs_761737358

3 SubmittersRCV001331198 RCV001871815 RCV003387999

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

SNV
Germline

Chr19:45368656

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9513829

rs_760820378

3 SubmittersRCV001329857 RCV003469559 RCV004690082 RCV005014439

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

SNV
Germline

Chr19:45369114

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406379545

rs_1360631927

3 SubmittersRCV001531476 RCV003994304 RCV005023184

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

SNV
Germline

Chr19:45354810

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9513194

rs_370819591

3 SubmittersRCV001576927 RCV005014595

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

SNV
Germline

Chr19:45352256

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9512870

rs_774392894

5 SubmittersRCV001765013 RCV003464127 RCV005419200 RCV005014629

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

SNV
Germline

Chr19:45357472

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9513333

rs_201505264

4 SubmittersRCV001774101 RCV003470884 RCV005014634

NM_006978.3(RNF113A):c.860T>C (p.Leu287Pro)

SNV
Germline

ChrX:119870754

Conflicting classifications of pathogenicity

Condition: not provided
Trichothiodystrophy 5, nonphotosensitive

Criteria Provided
Conflicting Classifications

CA414186689

rs_2147812233

2 SubmittersRCV001754988 RCV002466694

NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly)

SNV
Germline

Chr19:45351717

Conflicting classifications of pathogenicity

Condition: not provided
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Conflicting Classifications

CA9512816

rs_201828535

3 SubmittersRCV002077207 RCV001788837 RCV004571087

NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter)

SNV
Germline

Chr19:45352568

Pathogenic

Condition: not provided
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA9512950

rs_778479250

6 SubmittersRCV001837550 RCV002291301 RCV003470890

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

SNV
Germline

Chr19:45353157

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9513089

rs_774936846

4 SubmittersRCV003237447 RCV003470891 RCV005014652

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

SNV
Germline

Chr2:127286883

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348389868

rs_1055129064

2 SubmittersRCV001780443 RCV002478003

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

SNV
Germline

Chr19:45352580

Likely pathogenic

Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive

Criteria Provided
Single Submitter

CA406363209

rs_121913021

1 SubmittersRCV001799560

NM_001605.3(AARS1):c.2702G>A (p.Cys901Tyr)

SNV
Germline

Chr16:70253287

Pathogenic

Trichothiodystrophy 8, nonphotosensitive

No Assertion Criteria Provided

CA396554629

rs_2152149706

1 SubmittersRCV001804212

NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp)

SNV
Germline

Chr19:45352556

Pathogenic/Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy 1, photosensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA9512943

rs_752510317

4 SubmittersRCV001947789 RCV003471050 RCV003992580

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

SNV
Germline

Chr2:127289688

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1858486

rs_56116802

3 SubmittersRCV001973143 RCV002266076 RCV005025553

NM_000400.4(ERCC2):c.1963G>T (p.Asp655Tyr)

SNV
Germline

Chr19:45352589

Conflicting classifications of pathogenicity

Condition: not provided
Trichothiodystrophy 1, photosensitive
not specified

Criteria Provided
Conflicting Classifications

CA406363270

rs_1411740455

4 SubmittersRCV001987983 RCV002292383 RCV003317559

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

SNV
Germline

Chr19:45365077

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9513788

rs_201382232

5 SubmittersRCV001926551 RCV002222744 RCV004728951

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

SNV
Germline

Chr19:45357497

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA308959192

rs_199643821

4 SubmittersRCV001942186 RCV003471163 RCV005016946

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

SNV
Germline

Chr19:45355730

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406366011

rs_1971989621

2 SubmittersRCV002050221 RCV005023282

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

SNV
Germline

Chr2:127279183

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1858212

rs_768687646

2 SubmittersRCV002507014 RCV001935189

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

SNV
Germline

Chr2:127259382

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1858073

rs_763315862

4 SubmittersRCV001956455 RCV002564395 RCV003136379 RCV005025533

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

SNV
Germline

Chr19:45357545

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9513353

rs_766369300

3 SubmittersRCV002021331 RCV005017086 RCV003471277

NM_000400.4(ERCC2):c.2191-1G>A

SNV
Germline

Chr19:45351722

Pathogenic

Trichothiodystrophy 1, photosensitive

No Assertion Criteria Provided

CA406360648

rs_2513994806

1 SubmittersRCV002292387

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

SNV
Germline

Chr2:127286745

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348389568

rs_1434876636

4 SubmittersRCV002472162 RCV003317611 RCV003730245 RCV005019216

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

SNV
Germline

Chr19:45363844

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA406372750

rs_1412068236

3 SubmittersRCV003084939 RCV005028233 RCV003465963

NM_000400.4(ERCC2):c.1480-1G>C

SNV
Germline

Chr19:45355729

Pathogenic/Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Trichothiodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA9513253

rs_375284572

4 SubmittersRCV003082744 RCV003465960 RCV004783010

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

SNV
Germline

Chr2:127271454

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1858160

rs_755760603

2 SubmittersRCV002622145 RCV005025908

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

SNV
Germline

Chr19:45353112

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9513074

rs_140522180

4 SubmittersRCV003317740 RCV003459829 RCV005021903 RCV003561292

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

SNV
Germline

Chr19:45365159

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9513812

rs_773645934

2 SubmittersRCV003467918 RCV005030037

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

SNV
Germline

Chr19:45352274

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9512879

rs_758758729

2 SubmittersRCV003725638 RCV005014903

NM_001605.3(AARS1):c.673G>C (p.Glu225Gln)

SNV
Germline

Chr16:70270339

Likely pathogenic

Trichothiodystrophy 8, nonphotosensitive

Criteria Provided
Single Submitter

CA396565701

rs_2507018118

1 SubmittersRCV003990408

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

SNV
Germline

Chr19:45364862

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2514033921

3 SubmittersRCV005101926 RCV004576377 RCV005023578

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

SNV
Germline

Chr19:45355676

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_772572683

3 SubmittersRCV005023579 RCV004576392 RCV004587649

NM_138701.4(MPLKIP):c.135C>G (p.Tyr45Ter)

SNV
Germline

Chr7:40134433

Pathogenic/Likely pathogenic

Trichothiodystrophy 4, nonphotosensitive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004596699

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

SNV
Germline