Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
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.2041G>A (p.Asp681Asn)	SNV Germline	Chr19:45352511	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 2 not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA126889	rs_121913023	5 SubmittersRCV000018277 RCV003488344 RCV005328199 RCV003114198
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_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_000400.4(ERCC2):c.183+2T>A	SNV Germline	Chr19:45369068	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group D Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA9513899	rs_201127596	4 SubmittersRCV000260066 RCV001859951 RCV003470317
NM_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_000400.4(ERCC2):c.2046+1G>T	SNV Germline	Chr19:45352505	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA406362661	rs_774768228	2 SubmittersRCV000591465 RCV003459471
NM_000400.4(ERCC2):c.2092C>T (p.Gln698Ter)	SNV Unknown	Chr19:45352307	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA406362328	rs_1555775416	1 SubmittersRCV000677677
NM_000400.4(ERCC2):c.816-2A>G	SNV Germline	Chr19:45364121	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, group D Condition: not provided Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA9513603	rs_746795177	4 SubmittersRCV000778549 RCV002535637 RCV004569485 RCV004800582
NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter)	SNV Germline	Chr19:45365053	Pathogenic/Likely pathogenic	ERCC2-related disorder Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9513783	rs_151235136	5 SubmittersRCV000784900 RCV003461060 RCV005231325 RCV005029440 RCV003558587
NM_000400.4(ERCC2):c.567G>A (p.Trp189Ter)	SNV Germline/somatic	Chr19:45364865	Pathogenic/Likely pathogenic	Condition: not provided Malignant tumor of urinary bladder Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA9513741	rs_377532898	3 SubmittersRCV001008703 RCV003332278 RCV004569852
NM_000400.4(ERCC2):c.5+2T>A	SNV Germline	Chr19:45370534	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA406380464	rs_1599753508	2 SubmittersRCV001092422 RCV003469289
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.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.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_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_000400.4(ERCC2):c.676G>T (p.Ala226Ser)	SNV Germline	Chr19:45364466	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 2 Condition: not provided Ovarian cancer Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA406374353	rs_753696173	4 SubmittersRCV001775223 RCV001861131 RCV003154194 RCV004040766
NM_000400.4(ERCC2):c.1684C>T (p.Gln562Ter)	SNV Germline	Chr19:45353316	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA406364508	rs_2123229548	2 SubmittersRCV001783205 RCV003470902
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_000400.4(ERCC2):c.1973G>A (p.Arg658His)	SNV Germline	Chr19:45352579	Pathogenic/Likely pathogenic	Condition: not provided ERCC2-related disorder Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA9512956	rs_762141272	3 SubmittersRCV002010563 RCV004733445 RCV003471249
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_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.1758+1G>A	SNV Germline/somatic	Chr19:45353241	Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA9513120	rs_760834687	3 SubmittersRCV002226635 RCV003471293
NM_000400.4(ERCC2):c.1378-1G>T	SNV Germline	Chr19:45357372	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA406367312	rs_2514012707	2 SubmittersRCV003064590 RCV004572734
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_000400.4(ERCC2):c.1479+2T>C	SNV Germline	Chr19:45357268	Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA9513281	rs_542268504	2 SubmittersRCV002595871 RCV003465976
NM_000400.4(ERCC2):c.586C>T (p.Arg196Ter)	SNV Germline	Chr19:45364846	Pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA406375604	rs_2514033848	2 SubmittersRCV002615810 RCV004572795
NM_000400.4(ERCC2):c.2173G>A (p.Ala725Thr)	SNV Germline	Chr19:45352226	Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA406360942	rs_121913018	2 SubmittersRCV003123215 RCV003466016
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)	SNV Germline	Chr19:45368728	Pathogenic/Likely pathogenic	Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9513844	rs_748842373	3 SubmittersRCV003236423 RCV003466048 RCV003561256
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)	SNV Germline	Chr19:45353112	Pathogenic/Likely pathogenic	Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2 Cerebrooculofacioskeletal syndrome 2 Xeroderma pigmentosum, group D Trichothiodystrophy 1, photosensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9513074	rs_140522180	4 SubmittersRCV003317740 RCV003459829 RCV005021903 RCV003561292
NM_000400.4(ERCC2):c.1627C>T (p.Gln543Ter)	SNV Germline/somatic	Chr19:45354768	Pathogenic/Likely pathogenic	Malignant tumor of urinary bladder Cerebrooculofacioskeletal syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA308954682	rs_866704383	3 SubmittersRCV003332952 RCV004572936 RCV003777406
NM_000400.4(ERCC2):c.1307+1G>A	SNV Unknown	Chr19:45357629	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA406367871	rs_2123252188	1 SubmittersRCV003467911
NM_000400.4(ERCC2):c.478-2A>G	SNV Unknown	Chr19:45364956	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA308969881	rs_996182477	1 SubmittersRCV003460022
NM_000400.4(ERCC2):c.402C>A (p.Cys134Ter)	SNV Unknown	Chr19:45365117	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA406376109	rs_767543274	1 SubmittersRCV003460023
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.2047-2A>C	SNV Unknown	Chr19:45352354	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA406362572	rs_2513998244	1 SubmittersRCV003467919
NM_000400.4(ERCC2):c.1544-1G>T	SNV Germline	Chr19:45354852	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA406365634	rs_2514006464	2 SubmittersRCV003467920 RCV004810007
NM_000400.4(ERCC2):c.1663C>T (p.Gln555Ter)	SNV Germline	Chr19:45354732	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA406365129	rs_753505084	2 SubmittersRCV003467921 RCV003669427
NM_000400.4(ERCC2):c.559C>T (p.Gln187Ter)	SNV Unknown	Chr19:45364873	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA406375661	rs_2514033986	1 SubmittersRCV003467922
NM_000400.4(ERCC2):c.1832-1G>T	SNV Germline	Chr19:45352817	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA406363969	rs_2514000372	2 SubmittersRCV003467924 RCV003565672
NM_000400.4(ERCC2):c.2023G>C (p.Gly675Arg)	SNV Germline	Chr19:45352529	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA406362835	rs_2513999160	3 SubmittersRCV003467929 RCV003553951
NM_000400.4(ERCC2):c.2191-2A>G	SNV Unknown	Chr19:45351723	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA308947663	rs_199954405	1 SubmittersRCV003467930
NM_000400.4(ERCC2):c.1759-2A>C	SNV Unknown	Chr19:45353157	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA406364253	rs_774936846	1 SubmittersRCV003467931
NM_000400.4(ERCC2):c.1752C>G (p.Tyr584Ter)	SNV Unknown	Chr19:45353248	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA406364304	rs_1371008626	1 SubmittersRCV003467932
NM_000400.4(ERCC2):c.1230C>G (p.Tyr410Ter)	SNV Unknown	Chr19:45361531	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA406369793	rs_142184249	1 SubmittersRCV003467933
NM_000400.4(ERCC2):c.1655G>A (p.Trp552Ter)	SNV Unknown	Chr19:45354740	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA9513173	rs_756781264	1 SubmittersRCV003467934
NM_000400.4(ERCC2):c.633C>G (p.Tyr211Ter)	SNV Unknown	Chr19:45364509	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA406374441	rs_112910027	1 SubmittersRCV003467935
NM_000400.4(ERCC2):c.815+1G>A	SNV Germline	Chr19:45364234	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA406373945	rs_2514030892	2 SubmittersRCV003467939 RCV003779013
NM_000400.4(ERCC2):c.79G>T (p.Glu27Ter)	SNV Unknown	Chr19:45370159	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA9513939	rs_762622002	1 SubmittersRCV003460028
NM_000400.4(ERCC2):c.2087G>A (p.Trp696Ter)	SNV Unknown	Chr19:45352312	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter	CA9512889	rs_775446858	1 SubmittersRCV003467940
NM_000400.4(ERCC2):c.2190+1G>T	SNV Germline	Chr19:45352208	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA406360822	rs_921743604	2 SubmittersRCV003475596 RCV003720916
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_000400.4(ERCC2):c.778C>T (p.Gln260Ter)	SNV Germline	Chr19:45364272	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA406374130	rs_1050740821	2 SubmittersRCV003830698 RCV004573351
NM_000400.4(ERCC2):c.1238-1G>C	SNV Germline	Chr19:45357700	Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA308959436	rs_947507401	2 SubmittersRCV003836333 RCV004573352
NM_000400.4(ERCC2):c.1666-1G>A	SNV Germline	Chr19:45353335	Pathogenic/Likely pathogenic	Condition: not provided Cerebrooculofacioskeletal syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA406364554	rs_2123229638	2 SubmittersRCV003882572 RCV004573379
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.1912G>T (p.Glu638Ter)	SNV Unknown	Chr19:45352640	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter		rs_1599724778	1 SubmittersRCV004576378
NM_000400.4(ERCC2):c.1480-2A>G	SNV Unknown	Chr19:45355730	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter		rs_1971989621	1 SubmittersRCV004576380
NM_000400.4(ERCC2):c.1902+2T>C	SNV Unknown	Chr19:45352744	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter		rs_2514000020	1 SubmittersRCV004576387
NM_000400.4(ERCC2):c.1832-2A>C	SNV Unknown	Chr19:45352818	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter		rs_2514000375	1 SubmittersRCV004576388
NM_000400.4(ERCC2):c.256G>T (p.Glu86Ter)	SNV Unknown	Chr19:45368734	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter		rs_2123313191	1 SubmittersRCV004576389
NM_000400.4(ERCC2):c.1378-2A>C	SNV Unknown	Chr19:45357373	Likely pathogenic	Cerebrooculofacioskeletal syndrome 2	Criteria Provided Single Submitter		rs_2514012713	1 SubmittersRCV004576391
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_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_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_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.2041G>A (p.Asp681Asn)

SNV
Germline

Chr19:45352511

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 2
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA126889

rs_121913023

5 SubmittersRCV000018277 RCV003488344 RCV005328199 RCV003114198

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_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_000400.4(ERCC2):c.183+2T>A

SNV
Germline

Chr19:45369068

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9513899

rs_201127596

4 SubmittersRCV000260066 RCV001859951 RCV003470317

NM_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_000400.4(ERCC2):c.2046+1G>T

SNV
Germline

Chr19:45352505

Pathogenic/Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406362661

rs_774768228

2 SubmittersRCV000591465 RCV003459471

NM_000400.4(ERCC2):c.2092C>T (p.Gln698Ter)

SNV
Unknown

Chr19:45352307

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA406362328

rs_1555775416

1 SubmittersRCV000677677

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

SNV
Germline

Chr19:45364121

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9513603

rs_746795177

4 SubmittersRCV000778549 RCV002535637 RCV004569485 RCV004800582

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

SNV
Germline

Chr19:45365053

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9513783

rs_151235136

5 SubmittersRCV000784900 RCV003461060 RCV005231325 RCV005029440 RCV003558587

NM_000400.4(ERCC2):c.567G>A (p.Trp189Ter)

SNV
Germline/somatic

Chr19:45364865

Pathogenic/Likely pathogenic

Condition: not provided
Malignant tumor of urinary bladder
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA9513741

rs_377532898

3 SubmittersRCV001008703 RCV003332278 RCV004569852

NM_000400.4(ERCC2):c.5+2T>A

SNV
Germline

Chr19:45370534

Pathogenic/Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406380464

rs_1599753508

2 SubmittersRCV001092422 RCV003469289

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.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.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_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_000400.4(ERCC2):c.676G>T (p.Ala226Ser)

SNV
Germline

Chr19:45364466

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 2
Condition: not provided
Ovarian cancer
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA406374353

rs_753696173

4 SubmittersRCV001775223 RCV001861131 RCV003154194 RCV004040766

NM_000400.4(ERCC2):c.1684C>T (p.Gln562Ter)

SNV
Germline

Chr19:45353316

Pathogenic/Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406364508

rs_2123229548

2 SubmittersRCV001783205 RCV003470902

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_000400.4(ERCC2):c.1973G>A (p.Arg658His)

SNV
Germline

Chr19:45352579

Pathogenic/Likely pathogenic

Condition: not provided
ERCC2-related disorder
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA9512956

rs_762141272

3 SubmittersRCV002010563 RCV004733445 RCV003471249

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_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.1758+1G>A

SNV
Germline/somatic

Chr19:45353241

Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA9513120

rs_760834687

3 SubmittersRCV002226635 RCV003471293

NM_000400.4(ERCC2):c.1378-1G>T

SNV
Germline

Chr19:45357372

Pathogenic/Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406367312

rs_2514012707

2 SubmittersRCV003064590 RCV004572734

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_000400.4(ERCC2):c.1479+2T>C

SNV
Germline

Chr19:45357268

Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA9513281

rs_542268504

2 SubmittersRCV002595871 RCV003465976

NM_000400.4(ERCC2):c.586C>T (p.Arg196Ter)

SNV
Germline

Chr19:45364846

Pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406375604

rs_2514033848

2 SubmittersRCV002615810 RCV004572795

NM_000400.4(ERCC2):c.2173G>A (p.Ala725Thr)

SNV
Germline

Chr19:45352226

Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406360942

rs_121913018

2 SubmittersRCV003123215 RCV003466016

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

SNV
Germline

Chr19:45368728

Pathogenic/Likely pathogenic

Xeroderma pigmentosum
Cerebrooculofacioskeletal syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9513844

rs_748842373

3 SubmittersRCV003236423 RCV003466048 RCV003561256

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

SNV
Germline

Chr19:45353112

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9513074

rs_140522180

4 SubmittersRCV003317740 RCV003459829 RCV005021903 RCV003561292

NM_000400.4(ERCC2):c.1627C>T (p.Gln543Ter)

SNV
Germline/somatic

Chr19:45354768

Pathogenic/Likely pathogenic

Malignant tumor of urinary bladder
Cerebrooculofacioskeletal syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA308954682

rs_866704383

3 SubmittersRCV003332952 RCV004572936 RCV003777406

NM_000400.4(ERCC2):c.1307+1G>A

SNV
Unknown

Chr19:45357629

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA406367871

rs_2123252188

1 SubmittersRCV003467911

NM_000400.4(ERCC2):c.478-2A>G

SNV
Unknown

Chr19:45364956

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA308969881

rs_996182477

1 SubmittersRCV003460022

NM_000400.4(ERCC2):c.402C>A (p.Cys134Ter)

SNV
Unknown

Chr19:45365117

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA406376109

rs_767543274

1 SubmittersRCV003460023

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.2047-2A>C

SNV
Unknown

Chr19:45352354

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA406362572

rs_2513998244

1 SubmittersRCV003467919

NM_000400.4(ERCC2):c.1544-1G>T

SNV
Germline

Chr19:45354852

Pathogenic/Likely pathogenic

Cerebrooculofacioskeletal syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA406365634

rs_2514006464

2 SubmittersRCV003467920 RCV004810007

NM_000400.4(ERCC2):c.1663C>T (p.Gln555Ter)

SNV
Germline

Chr19:45354732

Pathogenic/Likely pathogenic

Cerebrooculofacioskeletal syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA406365129

rs_753505084

2 SubmittersRCV003467921 RCV003669427

NM_000400.4(ERCC2):c.559C>T (p.Gln187Ter)

SNV
Unknown

Chr19:45364873

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA406375661

rs_2514033986

1 SubmittersRCV003467922

NM_000400.4(ERCC2):c.1832-1G>T

SNV
Germline

Chr19:45352817

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA406363969

rs_2514000372

2 SubmittersRCV003467924 RCV003565672

NM_000400.4(ERCC2):c.2023G>C (p.Gly675Arg)

SNV
Germline

Chr19:45352529

Pathogenic/Likely pathogenic

Cerebrooculofacioskeletal syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA406362835

rs_2513999160

3 SubmittersRCV003467929 RCV003553951

NM_000400.4(ERCC2):c.2191-2A>G

SNV
Unknown

Chr19:45351723

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA308947663

rs_199954405

1 SubmittersRCV003467930

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

SNV
Unknown

Chr19:45353157

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA406364253

rs_774936846

1 SubmittersRCV003467931

NM_000400.4(ERCC2):c.1752C>G (p.Tyr584Ter)

SNV
Unknown

Chr19:45353248

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA406364304

rs_1371008626

1 SubmittersRCV003467932

NM_000400.4(ERCC2):c.1230C>G (p.Tyr410Ter)

SNV
Unknown

Chr19:45361531

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA406369793

rs_142184249

1 SubmittersRCV003467933

NM_000400.4(ERCC2):c.1655G>A (p.Trp552Ter)

SNV
Unknown

Chr19:45354740

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA9513173

rs_756781264

1 SubmittersRCV003467934

NM_000400.4(ERCC2):c.633C>G (p.Tyr211Ter)

SNV
Unknown

Chr19:45364509

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA406374441

rs_112910027

1 SubmittersRCV003467935

NM_000400.4(ERCC2):c.815+1G>A

SNV
Germline

Chr19:45364234

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA406373945

rs_2514030892

2 SubmittersRCV003467939 RCV003779013

NM_000400.4(ERCC2):c.79G>T (p.Glu27Ter)

SNV
Unknown

Chr19:45370159

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA9513939

rs_762622002

1 SubmittersRCV003460028

NM_000400.4(ERCC2):c.2087G>A (p.Trp696Ter)

SNV
Unknown

Chr19:45352312

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

CA9512889

rs_775446858

1 SubmittersRCV003467940

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

SNV
Germline

Chr19:45352208

Pathogenic/Likely pathogenic

Cerebrooculofacioskeletal syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA406360822

rs_921743604

2 SubmittersRCV003475596 RCV003720916

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_000400.4(ERCC2):c.778C>T (p.Gln260Ter)

SNV
Germline

Chr19:45364272

Pathogenic/Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406374130

rs_1050740821

2 SubmittersRCV003830698 RCV004573351

NM_000400.4(ERCC2):c.1238-1G>C

SNV
Germline

Chr19:45357700

Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA308959436

rs_947507401

2 SubmittersRCV003836333 RCV004573352

NM_000400.4(ERCC2):c.1666-1G>A

SNV
Germline

Chr19:45353335

Pathogenic/Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA406364554

rs_2123229638

2 SubmittersRCV003882572 RCV004573379

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.1912G>T (p.Glu638Ter)

SNV
Unknown

Chr19:45352640

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

rs_1599724778

1 SubmittersRCV004576378

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

SNV
Unknown

Chr19:45355730

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

rs_1971989621

1 SubmittersRCV004576380

NM_000400.4(ERCC2):c.1902+2T>C

SNV
Unknown

Chr19:45352744

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

rs_2514000020

1 SubmittersRCV004576387

NM_000400.4(ERCC2):c.1832-2A>C

SNV
Unknown

Chr19:45352818

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

rs_2514000375

1 SubmittersRCV004576388

NM_000400.4(ERCC2):c.256G>T (p.Glu86Ter)

SNV
Unknown

Chr19:45368734

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

rs_2123313191

1 SubmittersRCV004576389

NM_000400.4(ERCC2):c.1378-2A>C

SNV
Unknown

Chr19:45357373

Likely pathogenic

Cerebrooculofacioskeletal syndrome 2

Criteria Provided
Single Submitter

rs_2514012713

1 SubmittersRCV004576391

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_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_000400.4(ERCC2):c.1543+2T>A

SNV
Germline