Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter)	SNV Germline	Chr10:49500673	Pathogenic	Cockayne syndrome type 2 Condition: not provided	Criteria Provided Single Submitter	CA251917	rs_121917900	2 SubmittersRCV000001768 RCV001851561
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	SNV Germline	Chr10:49478437	Pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 ERCC6-related disorder Condition: not provided Cerebrooculofacioskeletal syndrome 1 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA115152	rs_121917901	17 SubmittersRCV000001770 RCV000001769 RCV000406377 RCV000521977 RCV001199022 RCV002476910
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	SNV Germline	Chr10:49524073	Pathogenic	Cockayne syndrome type 2 Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 7 conditions Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA251920	rs_121917902	6 SubmittersRCV000001772 RCV000669858 RCV000763212 RCV001384070 RCV005041966
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)	SNV Germline	Chr10:49470676	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 not specified Cerebrooculofacioskeletal syndrome 1 Condition: not provided Age related macular degeneration 5 DE SANCTIS-CACCHIONE SYNDROME	Criteria Provided Conflicting Classifications	CA199597	rs_4253208	10 SubmittersRCV000001776 RCV000170384 RCV000345279 RCV000224059 RCV000291488 RCV000988354
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter)	SNV Germline	Chr10:49532736	Pathogenic	UV-sensitive syndrome 1 Cockayne syndrome type 2 Condition: not provided Cockayne syndrome	Criteria Provided Multiple Submitters No Conflicts	CA115155	rs_121917903	4 SubmittersRCV000001777 RCV000502276 RCV001851562 RCV003230340
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)	SNV Germline	Chr10:49482809	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 1 Condition: not provided ERCC6-related disorder DE SANCTIS-CACCHIONE SYNDROME 7 conditions Cockayne syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA115159	rs_121917904	7 SubmittersRCV000001781 RCV001236985 RCV000333649 RCV000983998 RCV002490293 RCV005245478
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter)	SNV Germline	Chr5:60890964	Pathogenic	Cockayne syndrome type 1 Condition: not provided Cockayne syndrome	Criteria Provided Multiple Submitters No Conflicts	CA251925	rs_121434323	3 SubmittersRCV000001785 RCV001388976 RCV003330380
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)	SNV Germline	Chr5:60904794	Pathogenic/Likely pathogenic	Cockayne syndrome type 1 Condition: not provided Cockayne syndrome	Criteria Provided Multiple Submitters No Conflicts	CA219852	rs_121434325	7 SubmittersRCV000001787 RCV000059647 RCV005406718
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)	SNV Germline	Chr5:60902446	Pathogenic/Likely pathogenic	Cockayne syndrome type 1 Condition: not provided Cockayne syndrome type 1 UV-sensitive syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA219858	rs_121434326	6 SubmittersRCV000001788 RCV000059650 RCV005031380
NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter)	SNV Germline	Chr13:102861621	Pathogenic	Xeroderma pigmentosum group G/Cockayne syndrome	No Assertion Criteria Provided	CA126677	rs_121434572	1 SubmittersRCV000018038
NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter)	SNV Germline	Chr13:102856110	Pathogenic	Xeroderma pigmentosum group G/Cockayne syndrome	No Assertion Criteria Provided	CA126680	rs_121434573	1 SubmittersRCV000018039
NM_000123.4(ERCC5):c.215C>A (p.Pro72His)	SNV Germline	Chr13:102852244	Pathogenic	Xeroderma pigmentosum group G/Cockayne syndrome	No Assertion Criteria Provided	CA126683	rs_121434574	1 SubmittersRCV000018040
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	SNV Germline	Chr16:13947991	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F not specified Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome XFE progeroid syndrome Condition: not provided Breast carcinoma Hutchinson-Gilford syndrome Carcinoma of pancreas Fanconi anemia complementation group Q ERCC4-related disorder Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA126686	rs_121913049	24 SubmittersRCV000018048 RCV000120808 RCV000467658 RCV000766208 RCV000415873 RCV001262417 RCV001034542 RCV001391196 RCV001787804 RCV003924841 RCV000768209 RCV002257360
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)	SNV Germline	Chr19:45414870	Pathogenic	Cerebrooculofacioskeletal syndrome 4 Cockayne syndrome	No Assertion Criteria Provided	CA126880	rs_121913028	2 SubmittersRCV000018266 RCV000252117
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)	SNV Germline	Chr10:49461473	Pathogenic	Cerebrooculofacioskeletal syndrome 1 Condition: not provided Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA129817	rs_185142838	10 SubmittersRCV000024284 RCV000733375 RCV000671085 RCV000784896 RCV000622864
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)	SNV Germline	Chr16:13947661	Likely pathogenic	Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Condition: not provided ERCC4-Related Disorders	Criteria Provided Multiple Submitters No Conflicts	CA143933	rs_149364215	5 SubmittersRCV000049245 RCV001067959 RCV005016345 RCV003144119 RCV004700343
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg)	SNV Germline	Chr16:13928149	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, type F/Cockayne syndrome Condition: not provided Xeroderma pigmentosum, group F	Criteria Provided Multiple Submitters No Conflicts	CA143938	rs_397509403	3 SubmittersRCV000049248 RCV001568088 RCV004814985
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)	SNV Germline	Chr16:13935697	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, type F/Cockayne syndrome Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum ERCC4-related disorder Autosomal recessive cerebellar ataxia	Criteria Provided Multiple Submitters No Conflicts	CA143941	rs_147105770	7 SubmittersRCV000049250 RCV000700109 RCV000762956 RCV002222373 RCV003415812 RCV005429220
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr)	SNV Germline	Chr5:60904795	Likely pathogenic	Condition: not provided Cockayne syndrome type 1 Cockayne syndrome type 1 UV-sensitive syndrome 2 Cockayne syndrome	Criteria Provided Multiple Submitters No Conflicts	CA219850	rs_281875222	4 SubmittersRCV000059646 RCV000664947 RCV005031550 RCV004525867
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly)	SNV Germline	Chr5:60898322	Pathogenic/Likely pathogenic	Condition: not provided Cockayne syndrome type 1 UV-sensitive syndrome 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA219860	rs_281875225	5 SubmittersRCV000059651 RCV005042185 RCV001266293
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)	SNV Germline	Chr16:13948141	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Inborn genetic diseases Ovarian cancer Xeroderma pigmentosum, group F Xeroderma pigmentosum Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158873	rs_374186605	7 SubmittersRCV000120810 RCV000535348 RCV002515858 RCV003153389 RCV003315749 RCV002257428 RCV002470769
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)	SNV Germline	Chr16:13948175	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Inborn genetic diseases Condition: not provided Hereditary cancer-predisposing syndrome Xeroderma pigmentosum Hutchinson-Gilford syndrome	Criteria Provided Conflicting Classifications	CA158876	rs_4986933	11 SubmittersRCV000120811 RCV000476568 RCV000989535 RCV002515859 RCV004704960 RCV005251066 RCV002257429 RCV001034545
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)	SNV Germline	Chr16:13948330	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Condition: not provided Xeroderma pigmentosum, group F	Criteria Provided Conflicting Classifications	CA158885	rs_150077735	5 SubmittersRCV000120814 RCV000474309 RCV001356061 RCV003315750
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)	SNV Germline	Chr16:13947713	Conflicting classifications of pathogenicity	not specified XFE progeroid syndrome ERCC4-related disorder Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Hereditary cancer-predisposing syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158888	rs_1800069	13 SubmittersRCV000120815 RCV001332584 RCV003915202 RCV001121237 RCV000463526 RCV005251067 RCV001788036 RCV002257430 RCV001354835 RCV002515860
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)	SNV Germline	Chr16:13922034	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Condition: not provided	Criteria Provided Conflicting Classifications	CA158897	rs_145315496	5 SubmittersRCV000120818 RCV001209805 RCV001543122 RCV000728799
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)	SNV Germline	Chr16:13934224	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Hereditary cancer-predisposing syndrome Xeroderma pigmentosum ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA158906	rs_1799802	12 SubmittersRCV000120821 RCV000224511 RCV001116216 RCV003224157 RCV001083882 RCV005251068 RCV002257432 RCV003925183
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)	SNV Germline	Chr16:13935420	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Xeroderma pigmentosum Condition: not provided Hutchinson-Gilford syndrome Inborn genetic diseases Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA158912	rs_146601373	10 SubmittersRCV000120823 RCV000459235 RCV001117661 RCV002258800 RCV004704961 RCV001034544 RCV002515862 RCV005251069
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)	SNV Germline	Chr16:13935347	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Condition: not provided Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158918	rs_572439259	5 SubmittersRCV000120825 RCV005394415 RCV005229925 RCV000651482 RCV001294104
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)	SNV Germline	Chr16:13935495	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q Condition: not provided ERCC4-related disorder Hereditary cancer-predisposing syndrome Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA158921	rs_41552412	13 SubmittersRCV000120826 RCV000343662 RCV000546465 RCV000764023 RCV001292825 RCV001355143 RCV003975071 RCV005251070 RCV002258801
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)	SNV Germline	Chr16:13935538	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158933	rs_143347563	4 SubmittersRCV000120830 RCV000989533 RCV001854624 RCV004786378
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)	SNV Germline	Chr16:13935659	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Condition: not provided Xeroderma pigmentosum Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q Inborn genetic diseases Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA158936	rs_1800068	14 SubmittersRCV000120831 RCV000651477 RCV001119237 RCV001357601 RCV002257433 RCV002055332 RCV001294105 RCV002515863 RCV005251071
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter)	SNV Germline	Chr10:49461431	Pathogenic	Cockayne syndrome type 2 Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA274710	rs_786205174	3 SubmittersRCV000170389 RCV001850426 RCV005042366
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)	SNV Germline	Chr10:49470838	Conflicting classifications of pathogenicity	not specified COFS syndrome 7 conditions Condition: not provided DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome Macular degeneration Inborn genetic diseases Cone-rod dystrophy Intellectual disability	Criteria Provided Conflicting Classifications	CA199591	rs_139007661	13 SubmittersRCV000170382 RCV000358951 RCV000515412 RCV000724216 RCV000988355 RCV000266566 RCV000323987 RCV002516541 RCV005625356 RCV005625357
NM_000124.4(ERCC6):c.2830-2A>G	SNV Germline	Chr10:49472472	Pathogenic	Cockayne syndrome type 2 Condition: not provided 7 conditions DE SANCTIS-CACCHIONE SYNDROME	Criteria Provided Multiple Submitters No Conflicts	CA274705	rs_373227647	6 SubmittersRCV000170381 RCV000397640 RCV000762809 RCV000984002
NM_000124.4(ERCC6):c.2599-26A>G	SNV Germline	Chr10:49473613	Pathogenic/Likely pathogenic	Cockayne syndrome type 2 Cockayne syndrome Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA274704	rs_4253196	7 SubmittersRCV000170380 RCV002271444 RCV000666576 RCV001236817 RCV005049451
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)	SNV Germline	Chr10:49482689	Pathogenic/Likely pathogenic	Cockayne syndrome type 2 Condition: not provided ERCC6-related disorder DE SANCTIS-CACCHIONE SYNDROME 7 conditions Cockayne syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA274701	rs_151242354	13 SubmittersRCV000170378 RCV000256036 RCV000778283 RCV000983999 RCV002505228 RCV002271443 RCV003352790
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp)	SNV Germline	Chr10:49482848	Pathogenic	Cockayne syndrome type 2 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274698	rs_202080674	3 SubmittersRCV000170376 RCV000624050 RCV002515215
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)	SNV Germline	Chr10:49482860	Conflicting classifications of pathogenicity	not specified 7 conditions COFS syndrome Condition: not provided Cockayne syndrome Inborn genetic diseases Macular degeneration Intellectual disability Cone-rod dystrophy	Criteria Provided Conflicting Classifications	CA199585	rs_61760163	16 SubmittersRCV000170374 RCV000515272 RCV000289884 RCV000724215 RCV000344840 RCV002515214 RCV000384253 RCV005625355 RCV005625354
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)	SNV Germline	Chr10:49483384	Pathogenic/Likely pathogenic	Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274694	rs_767247987	4 SubmittersRCV000170373 RCV000667169 RCV003491926 RCV001227175
NM_000124.4(ERCC6):c.1526+1G>T	SNV Germline	Chr10:49505883	Pathogenic/Likely pathogenic	Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome Condition: not provided 7 conditions Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA274690	rs_371739894	9 SubmittersRCV000170365 RCV000983983 RCV001280930 RCV000723622 RCV005042364 RCV005361058
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe)	SNV Germline	Chr10:49524760	Conflicting classifications of pathogenicity	not specified Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Cockayne syndrome type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA199603	rs_150935953	6 SubmittersRCV000170393 RCV000287342 RCV000340086 RCV000404438 RCV000726037 RCV002515216
NM_000124.4(ERCC6):c.150G>A (p.Val50=)	SNV Germline	Chr10:49532815	Conflicting classifications of pathogenicity	not specified Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA199575	rs_80133923	5 SubmittersRCV000170367 RCV000314736 RCV000335795 RCV000402991 RCV000871118
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln)	SNV Germline	Chr10:49482808	Conflicting classifications of pathogenicity	Condition: not provided Cockayne syndrome type 2 Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 6 conditions	Criteria Provided Conflicting Classifications	CA239092	rs_148845653	5 SubmittersRCV000173643 RCV000318448 RCV000354594 RCV000259781 RCV005396522
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)	SNV Germline	Chr10:49472376	Conflicting classifications of pathogenicity	Condition: not provided COFS syndrome Macular degeneration ERCC6-related disorder Cockayne syndrome	Criteria Provided Conflicting Classifications	CA240638	rs_145720191	10 SubmittersRCV000174989 RCV000397231 RCV000364521 RCV004537372 RCV000307545
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val)	SNV Germline	Chr10:49470984	Conflicting classifications of pathogenicity	Condition: not provided Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 6 conditions Cockayne syndrome type 2 ERCC6-related disorder	Criteria Provided Conflicting Classifications	CA240809	rs_41562713	10 SubmittersRCV000175123 RCV000270778 RCV000328199 RCV005396529 RCV000363004 RCV004537373
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys)	SNV Germline	Chr5:60898280	Conflicting classifications of pathogenicity	not specified Cockayne syndrome type 1 Condition: not provided Hereditary breast ovarian cancer syndrome ERCC8-related disorder	Criteria Provided Conflicting Classifications	CA247938	rs_61754098	7 SubmittersRCV000180462 RCV000332330 RCV000584926 RCV001374546 RCV003917681
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)	SNV Germline	Chr10:49474074	Pathogenic/Likely pathogenic	Cockayne syndrome type 2 Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Condition: not provided Cockayne syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277416	rs_368728467	5 SubmittersRCV000195010 RCV000675120 RCV001063571 RCV001844081
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)	SNV Germline	Chr10:49530797	Pathogenic/Likely pathogenic	Cockayne syndrome type 2 Condition: not provided DE SANCTIS-CACCHIONE SYNDROME 6 conditions 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA277210	rs_751838040	7 SubmittersRCV000193828 RCV000224212 RCV000984001 RCV005396581 RCV002485298
NM_005236.3(ERCC4):c.974-6T>C	SNV Germline	Chr16:13932151	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F not specified Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F Condition: not provided Xeroderma pigmentosum Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA249006	rs_201181735	10 SubmittersRCV000353369 RCV000202807 RCV000964431 RCV003417735 RCV002257501 RCV005251092
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)	SNV Germline	Chr10:49528426	Pathogenic	Premature ovarian failure 11 Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA10576142	rs_875989810	4 SubmittersRCV000211122 RCV000674902 RCV001061726 RCV005044434
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly)	SNV Germline	Chr16:13926675	Conflicting classifications of pathogenicity	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q ERCC4-related disorder XFE progeroid syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Conflicting Classifications	CA7910211	rs_2020961	4 SubmittersRCV000226103 RCV001294109 RCV003929973 RCV005016640
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp)	SNV Germline	Chr10:49532565	Conflicting classifications of pathogenicity	not specified Macular degeneration COFS syndrome Cockayne syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5496559	rs_148095899	4 SubmittersRCV000238687 RCV000289449 RCV000381521 RCV000329237 RCV000873158
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)	SNV Germline	Chr10:49482760	Conflicting classifications of pathogenicity	Cockayne syndrome Macular degeneration Condition: not provided COFS syndrome ERCC6-related disorder	Criteria Provided Conflicting Classifications	CA5495770	rs_55698015	7 SubmittersRCV000263243 RCV000304579 RCV000725973 RCV000358004 RCV004535380
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys)	SNV Germline	Chr10:49470310	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495307	rs_61760166	6 SubmittersRCV000307135 RCV000364264 RCV000397087 RCV000513602
NM_000082.4(ERCC8):c.1105G>C (p.Val369Leu)	SNV Germline	Chr5:60887457	Conflicting classifications of pathogenicity	Cockayne syndrome type 1 Condition: not provided Cockayne syndrome type 1 UV-sensitive syndrome 2	Criteria Provided Conflicting Classifications	CA3277626	rs_543291626	3 SubmittersRCV000310103 RCV000951221 RCV005398481
NM_000082.4(ERCC8):c.149A>G (p.Asp50Gly)	SNV Germline	Chr5:60928888	Conflicting classifications of pathogenicity	Cockayne syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3277948	rs_373174008	2 SubmittersRCV000394430 RCV000967836
NM_000082.4(ERCC8):c.66G>A (p.Glu22=)	SNV Germline	Chr5:60944943	Conflicting classifications of pathogenicity	Cockayne syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3277978	rs_149130938	4 SubmittersRCV000290754 RCV000728851
NM_000082.4(ERCC8):c.551-10G>T	SNV Germline	Chr5:60902518	Conflicting classifications of pathogenicity	Cockayne syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3277792	rs_758296965	2 SubmittersRCV000259268 RCV001452977
NM_000082.4(ERCC8):c.472T>C (p.Leu158=)	SNV Germline	Chr5:60904801	Conflicting classifications of pathogenicity	Cockayne syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3277845	rs_561001438	3 SubmittersRCV000316833 RCV000946093
NM_000082.4(ERCC8):c.173+9A>G	SNV Germline	Chr5:60928855	Conflicting classifications of pathogenicity	Cockayne syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3277940	rs_143356896	2 SubmittersRCV000344512 RCV000913473
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=)	SNV Germline	Chr10:49470507	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495351	rs_771604820	3 SubmittersRCV000260758 RCV000314768 RCV000353181 RCV000671962 RCV003765765
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp)	SNV Germline	Chr10:49470569	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Cockayne syndrome type 2 Inborn genetic diseases Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA5495358	rs_147079519	6 SubmittersRCV000264621 RCV000318342 RCV000375317 RCV002520594 RCV000994389 RCV005396929
NM_000124.4(ERCC6):c.2829+11A>T	SNV Germline	Chr10:49472898	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495523	rs_777251839	2 SubmittersRCV000275855 RCV000333330 RCV000371658 RCV002059553
NM_000124.4(ERCC6):c.2287-4G>A	SNV Germline	Chr10:49476314	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495699	rs_375617750	3 SubmittersRCV000295862 RCV000350825 RCV000371562 RCV000729619
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=)	SNV Germline	Chr10:49505928	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495960	rs_150762517	3 SubmittersRCV000289491 RCV000326056 RCV000380599 RCV000667559 RCV001470692
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys)	SNV Germline	Chr10:49505975	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495972	rs_61749175	2 SubmittersRCV000280376 RCV000335550 RCV000402785 RCV003114473
NM_000124.4(ERCC6):c.1229G>A (p.Gly410Asp)	SNV Germline	Chr10:49524201	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA5496364	rs_138865542	2 SubmittersRCV000265852 RCV000318351 RCV000376746 RCV000943556
NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys)	SNV Germline	Chr10:49524271	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5496377	rs_148295935	4 SubmittersRCV000296235 RCV000348685 RCV000388161 RCV000923032 RCV004975422
NM_000124.4(ERCC6):c.384C>T (p.Asp128=)	SNV Germline	Chr10:49532581	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5496562	rs_146165518	2 SubmittersRCV000283340 RCV000323401 RCV000380147 RCV000936177
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile)	SNV Germline	Chr10:49458904	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Cockayne syndrome type 2 Condition: not provided Inborn genetic diseases 6 conditions	Criteria Provided Conflicting Classifications	CA5495122	rs_201813523	5 SubmittersRCV000262594 RCV000316584 RCV000375860 RCV000483087 RCV002520592 RCV005396928
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)	SNV Germline	Chr10:49459074	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 not specified Condition: not provided DE SANCTIS-CACCHIONE SYNDROME ERCC6-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA5495149	rs_61760167	9 SubmittersRCV000298443 RCV000352090 RCV000397993 RCV000592732 RCV000865073 RCV000988351 RCV004544502 RCV005625526
NM_000124.4(ERCC6):c.3804C>T (p.His1268=)	SNV Germline	Chr10:49461531	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495259	rs_116032070	2 SubmittersRCV000294639 RCV000351894 RCV000386805 RCV000873518
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser)	SNV Germline	Chr10:49470769	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5495391	rs_200093886	3 SubmittersRCV000313595 RCV000348563 RCV000403215 RCV002522159 RCV004021475
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met)	SNV Germline	Chr10:49472997	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 Condition: not provided 6 conditions ERCC6-related disorder	Criteria Provided Conflicting Classifications	CA5495546	rs_142580756	7 SubmittersRCV000288031 RCV000343009 RCV000404286 RCV001812787 RCV005396930 RCV004732837
NM_000124.4(ERCC6):c.2697G>A (p.Thr899=)	SNV Germline	Chr10:49473489	Conflicting classifications of pathogenicity	COFS syndrome Cockayne syndrome Macular degeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA5495580	rs_761802751	2 SubmittersRCV000303153 RCV000358062 RCV000394139 RCV000930085
NM_000124.4(ERCC6):c.2397T>C (p.Leu799=)	SNV Germline	Chr10:49474228	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495649	rs_200079929	2 SubmittersRCV000297552 RCV000337332 RCV000406159 RCV000941084
NM_000124.4(ERCC6):c.2337C>T (p.Phe779=)	SNV Germline	Chr10:49476260	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495691	rs_114490473	3 SubmittersRCV000265214 RCV000320356 RCV000379370 RCV000871449
NM_000124.4(ERCC6):c.2022T>A (p.Ser674=)	SNV Germline	Chr10:49482834	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495783	rs_544471829	2 SubmittersRCV000293810 RCV000329682 RCV000388093 RCV001490935
NM_000124.4(ERCC6):c.1992+7C>T	SNV Germline	Chr10:49483339	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495811	rs_373710355	4 SubmittersRCV000286446 RCV000341501 RCV000407921 RCV000877297
NM_000124.4(ERCC6):c.1158C>T (p.Asp386=)	SNV Germline	Chr10:49524272	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5496379	rs_141391984	2 SubmittersRCV000308605 RCV000347073 RCV000407268 RCV000928375
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=)	SNV Germline	Chr10:49524368	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided Age related macular degeneration 5	Criteria Provided Conflicting Classifications	CA5496396	rs_764159237	3 SubmittersRCV000276506 RCV000385877 RCV000668822 RCV000905618 RCV000333763
NM_000124.4(ERCC6):c.*2237C>T	SNV Germline	Chr10:49456578	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2	Criteria Provided Conflicting Classifications	CA10635388	rs_192242583	1 SubmittersRCV000295151 RCV000352403 RCV000382421
NM_000124.4(ERCC6):c.3594A>G (p.Lys1198=)	SNV Germline	Chr10:49470366	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495318	rs_374791168	2 SubmittersRCV000260366 RCV000317802 RCV000374778 RCV000979457
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=)	SNV Germline	Chr10:49470480	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10635415	rs_886047034	3 SubmittersRCV000307447 RCV000345920 RCV000394239 RCV000667349 RCV003669128
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu)	SNV Germline	Chr10:49471056	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 7 conditions Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495457	rs_375181157	4 SubmittersRCV000281519 RCV000338857 RCV002487335 RCV000403327 RCV002520595
NM_000124.4(ERCC6):c.2598+7G>A	SNV Germline	Chr10:49474020	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495616	rs_769421755	2 SubmittersRCV000271217 RCV000329615 RCV000384197 RCV001460607
NM_000124.4(ERCC6):c.2391C>T (p.Ser797=)	SNV Germline	Chr10:49474234	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 not specified Cockayne syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495652	rs_142641602	4 SubmittersRCV000313173 RCV000352304 RCV000732170 RCV000405332 RCV000877017
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys)	SNV Germline	Chr10:49474235	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 Condition: not provided ERCC6-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA5495653	rs_146043988	6 SubmittersRCV000273288 RCV000309721 RCV000367782 RCV001546942 RCV004537691 RCV005625527
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile)	SNV Germline	Chr10:49482731	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Condition: not provided 7 conditions	Criteria Provided Conflicting Classifications	CA5495764	rs_369437807	4 SubmittersRCV000308072 RCV000362821 RCV000395741 RCV002520597 RCV002480092
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)	SNV Germline	Chr10:49524272	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 not specified Cockayne syndrome type 2 Condition: not provided ERCC6-related disorder	Criteria Provided Conflicting Classifications	CA5496378	rs_141391984	7 SubmittersRCV000307520 RCV000359960 RCV000731973 RCV000406265 RCV000871745 RCV004537692
NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn)	SNV Germline	Chr10:49524572	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA5496425	rs_143260457	2 SubmittersRCV000288378 RCV000345666 RCV000408050 RCV000983817
NM_000124.4(ERCC6):c.2287-5C>T	SNV Germline	Chr10:49476315	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495701	rs_772880581	2 SubmittersRCV000311710 RCV000347841 RCV000405537 RCV001400321
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=)	SNV Germline	Chr10:49493177	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495876	rs_144608959	2 SubmittersRCV000298809 RCV000353565 RCV000405509 RCV000905410
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met)	SNV Germline	Chr10:49493178	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495877	rs_767709344	3 SubmittersRCV000277469 RCV000332639 RCV000368604 RCV000944209
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)	SNV Germline	Chr10:49524156	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA5496358	rs_4253046	6 SubmittersRCV000266947 RCV000324334 RCV000364031 RCV000733377
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser)	SNV Germline	Chr10:49524529	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5496417	rs_766256094	4 SubmittersRCV000293985 RCV000346592 RCV000385141 RCV002520598 RCV002520599
NM_000124.4(ERCC6):c.-22G>A	SNV Germline	Chr10:49538969	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 ERCC6-related disorder	Criteria Provided Conflicting Classifications	CA10635886	rs_4253006	2 SubmittersRCV000267938 RCV000320674 RCV000359897 RCV004537693
NM_005236.3(ERCC4):c.105C>T (p.Cys35=)	SNV Germline	Chr16:13920270	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910086	rs_762885804	2 SubmittersRCV000285190 RCV002061190
NM_005236.3(ERCC4):c.840G>A (p.Lys280=)	SNV Germline	Chr16:13930757	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA10642903	rs_886051659	2 SubmittersRCV000315093 RCV002522811
NM_005236.3(ERCC4):c.1102+13G>T	SNV Germline	Chr16:13932298	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910361	rs_199772721	2 SubmittersRCV000260868 RCV002061191
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=)	SNV Germline	Chr16:13935216	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7910435	rs_3136151	4 SubmittersRCV000321953 RCV000529282 RCV003422265 RCV001820939
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=)	SNV Germline	Chr16:13947795	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910701	rs_372425414	2 SubmittersRCV000407678 RCV002522813
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=)	SNV Germline	Chr16:13947888	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F not specified Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F Condition: not provided	Criteria Provided Conflicting Classifications	CA7910719	rs_139406689	5 SubmittersRCV000354867 RCV000863529 RCV001820940 RCV005016696 RCV005621935
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)	SNV Germline	Chr5:60918364	Pathogenic	Condition: not provided Cockayne syndrome type 1 UV-sensitive syndrome 2 Cockayne syndrome type 1 Cockayne syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3277888	rs_143367518	7 SubmittersRCV000726626 RCV002502427 RCV000412151 RCV002509376
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro)	SNV Germline	Chr10:49500634	Conflicting classifications of pathogenicity	Cockayne syndrome Condition: not provided Cerebrooculofacioskeletal syndrome 1	Criteria Provided Conflicting Classifications	CA16043449	rs_1057518910	2 SubmittersRCV000415186 RCV001246234 RCV001196299
NM_000082.4(ERCC8):c.173+1119G>C	SNV Germline	Chr5:60927745	Pathogenic/Likely pathogenic	Cockayne syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16609478	rs_1043679457	3 SubmittersRCV000449643 RCV001861650
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile)	SNV Germline	Chr16:13922064	Conflicting classifications of pathogenicity	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Condition: not provided	Criteria Provided Conflicting Classifications	CA7910134	rs_55761944	3 SubmittersRCV000473210 RCV002496767 RCV004822054
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)	SNV Germline	Chr10:49472377	Pathogenic	Cockayne syndrome type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5495484	rs_772801089	3 SubmittersRCV000502392 RCV001246953
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)	SNV Germline	Chr10:49482798	Pathogenic/Likely pathogenic	Cockayne syndrome type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA376724364	rs_751292948	3 SubmittersRCV000500198 RCV002527247
NM_005236.3(ERCC4):c.471A>G (p.Lys157=)	SNV Germline	Chr16:13926643	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910208	rs_3136092	2 SubmittersRCV000499897 RCV002060112
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=)	SNV Germline	Chr16:13948023	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910736	rs_2020960	2 SubmittersRCV000503360 RCV000651480
NM_005236.3(ERCC4):c.228G>A (p.Leu76=)	SNV Germline	Chr16:13922051	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F Xeroderma pigmentosum ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA7910129	rs_61760162	4 SubmittersRCV000560297 RCV001116102 RCV002257838 RCV003900232
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr)	SNV Germline	Chr16:13922148	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum not specified Xeroderma pigmentosum, group F Condition: not provided	Criteria Provided Conflicting Classifications	CA7910153	rs_148791570	5 SubmittersRCV000547965 RCV002257839 RCV001821617 RCV001117537 RCV001569666
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe)	SNV Germline	Chr16:13932214	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910342	rs_145851520	2 SubmittersRCV000540520 RCV001292941
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr)	SNV Germline	Chr10:49472938	Likely pathogenic	Condition: not provided Cockayne syndrome type 2 Cockayne syndrome	Criteria Provided Multiple Submitters No Conflicts	CA376719102	rs_1554875536	3 SubmittersRCV000591568 RCV003313967 RCV005418228
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)	SNV Germline	Chr10:49472461	Pathogenic/Likely pathogenic	Condition: not provided DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Cockayne syndrome type 2 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA206586242	rs_906755254	8 SubmittersRCV000592438 RCV000674384 RCV004821283 RCV005044894
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg)	SNV Germline	Chr10:49474074	Pathogenic	Cockayne syndrome type 2 Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA376721328	rs_368728467	5 SubmittersRCV000625851 RCV001855324 RCV005044908
NM_005236.3(ERCC4):c.1812-5T>C	SNV Germline	Chr16:13937761	Conflicting classifications of pathogenicity	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Xeroderma pigmentosum Condition: not provided Inborn genetic diseases ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA7910562	rs_2020952	8 SubmittersRCV000651479 RCV001788310 RCV000989534 RCV002257913 RCV005231238 RCV002531975 RCV003965394
NM_005236.3(ERCC4):c.714G>A (p.Lys238=)	SNV Germline	Chr16:13928157	Conflicting classifications of pathogenicity	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Condition: not provided	Criteria Provided Conflicting Classifications	CA7910255	rs_780166871	2 SubmittersRCV000651473 RCV004692038
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn)	SNV Germline	Chr5:60890918	Conflicting classifications of pathogenicity	Condition: not provided Cockayne syndrome type 1 UV-sensitive syndrome 2 Cockayne syndrome type 1	Criteria Provided Conflicting Classifications	CA3277663	rs_141845482	6 SubmittersRCV000658089 RCV001152254 RCV000764612
NM_000082.4(ERCC8):c.1122+1G>A	SNV Unknown	Chr5:60887439	Likely pathogenic	Cockayne syndrome type 1	No Assertion Criteria Provided	CA359822262	rs_1482664387	1 SubmittersRCV000674649
NM_000082.4(ERCC8):c.843+1G>T	SNV Germline	Chr5:60898275	Pathogenic	Cockayne syndrome type 1 Condition: not provided	Criteria Provided Single Submitter	CA359824812	rs_1305258765	2 SubmittersRCV000674447 RCV001868280
NM_000082.4(ERCC8):c.719-2A>T	SNV Unknown	Chr5:60898402	Likely pathogenic	Cockayne syndrome type 1	No Assertion Criteria Provided	CA359825148	rs_1554073117	1 SubmittersRCV000665092
NM_000082.4(ERCC8):c.618-1G>A	SNV Germline	Chr5:60899728	Pathogenic	Cockayne syndrome type 1 Condition: not provided Cockayne syndrome type 1 UV-sensitive syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA3277757	rs_201464610	5 SubmittersRCV000666033 RCV001281593 RCV005034240
NM_000082.4(ERCC8):c.399+1G>A	SNV Germline	Chr5:60918264	Likely pathogenic	Cockayne syndrome type 1 Condition: not provided Cockayne syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3277873	rs_774047625	3 SubmittersRCV000664613 RCV001378262 RCV004800514
NM_000082.4(ERCC8):c.77+2T>G	SNV Germline	Chr5:60944930	Likely pathogenic	Cockayne syndrome type 1 Condition: not provided	Criteria Provided Single Submitter	CA359935292	rs_1554076239	2 SubmittersRCV000668687 RCV002532079
NM_000082.4(ERCC8):c.1042-1G>C	SNV Unknown	Chr5:60887521	Likely pathogenic	Cockayne syndrome type 1	No Assertion Criteria Provided	CA118840834	rs_897535441	1 SubmittersRCV000666637
NM_000082.4(ERCC8):c.1042-1G>A	SNV Germline	Chr5:60887521	Pathogenic/Likely pathogenic	Cockayne syndrome type 1	No Assertion Criteria Provided	CA359822676	rs_897535441	2 SubmittersRCV000674160
NM_000082.4(ERCC8):c.719-2A>G	SNV Unknown	Chr5:60898402	Likely pathogenic	Cockayne syndrome type 1	No Assertion Criteria Provided	CA359825151	rs_1554073117	1 SubmittersRCV000667609
NM_000082.4(ERCC8):c.482-2A>G	SNV Germline	Chr5:60903718	Likely pathogenic	Cockayne syndrome type 1 Condition: not provided	Criteria Provided Single Submitter	CA359827009	rs_1554073420	2 SubmittersRCV000668671 RCV002531205
NM_000082.4(ERCC8):c.276-2A>G	SNV Germline	Chr5:60918390	Likely pathogenic	Cockayne syndrome type 1 Condition: not provided	Criteria Provided Single Submitter	CA359828099	rs_1554074597	2 SubmittersRCV000669777 RCV001868235
NM_000082.4(ERCC8):c.173+1G>A	SNV Germline	Chr5:60928863	Pathogenic/Likely pathogenic	Cockayne syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA359828672	rs_1476095782	3 SubmittersRCV000670075 RCV001376989
NM_000082.4(ERCC8):c.1042-2A>G	SNV Germline	Chr5:60887522	Pathogenic/Likely pathogenic	Cockayne syndrome type 1 UV-sensitive syndrome 2 Cockayne syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3277639	rs_372237310	3 SubmittersRCV000666696 RCV000763546 RCV001379970
NM_000082.4(ERCC8):c.551-1G>A	SNV Germline	Chr5:60902509	Pathogenic	Cockayne syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA359826075	rs_1554073316	3 SubmittersRCV000674856 RCV004702307
NM_000124.4(ERCC6):c.4062+2T>A	SNV Unknown	Chr10:49460371	Likely pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2	No Assertion Criteria Provided	CA376708002	rs_1554873950	1 SubmittersRCV000672776
NM_000124.4(ERCC6):c.3778+1G>C	SNV Unknown	Chr10:49470181	Likely pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2	No Assertion Criteria Provided	CA376712248	rs_1554875114	1 SubmittersRCV000671515
NM_000124.4(ERCC6):c.2829+1G>A	SNV Unknown	Chr10:49472908	Likely pathogenic	Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1	No Assertion Criteria Provided	CA376718887	rs_1554875522	1 SubmittersRCV000669221
NM_000124.4(ERCC6):c.2383-1G>A	SNV Unknown	Chr10:49474243	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2	No Assertion Criteria Provided	CA376721940	rs_1554787554	1 SubmittersRCV000674266
NM_000124.4(ERCC6):c.1527-2A>G	SNV Unknown	Chr10:49500698	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2	No Assertion Criteria Provided	CA5495934	rs_768608345	1 SubmittersRCV000674964
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)	SNV Germline	Chr10:49524421	Pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided Cockayne syndrome type 2 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA376753425	rs_1198241866	4 SubmittersRCV000665546 RCV000809201 RCV001449817 RCV005046853
NM_000124.4(ERCC6):c.422+1G>A	SNV Germline	Chr10:49532542	Likely pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Single Submitter	CA376711856	rs_1198472093	2 SubmittersRCV000665499 RCV001376925
NM_000124.4(ERCC6):c.4063-1G>C	SNV Germline	Chr10:49459235	Pathogenic/Likely pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5495184	rs_766980240	8 SubmittersRCV000664549 RCV001528150 RCV000994388
NM_000124.4(ERCC6):c.3071-1G>A	SNV Germline	Chr10:49470890	Pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Single Submitter	CA376717216	rs_1554875287	2 SubmittersRCV000666961 RCV003660823
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter)	SNV Unknown	Chr10:49474065	Pathogenic	Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Cockayne syndrome type 2	No Assertion Criteria Provided	CA376721285	rs_1554787509	1 SubmittersRCV000673909
NM_000124.4(ERCC6):c.2169+1G>A	SNV Germline	Chr10:49482686	Likely pathogenic	Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Condition: not provided Cockayne syndrome	Criteria Provided Multiple Submitters No Conflicts	CA376724119	rs_1441655600	3 SubmittersRCV000670497 RCV003767985 RCV005056413
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)	SNV Germline	Chr10:49482796	Pathogenic	Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Single Submitter	CA206595753	rs_1026438103	3 SubmittersRCV000667893 RCV001255758 RCV001861762
NM_000124.4(ERCC6):c.544-2A>G	SNV Unknown	Chr10:49528527	Likely pathogenic	Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1	No Assertion Criteria Provided	CA376709542	rs_1554794073	1 SubmittersRCV000669337
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)	SNV Germline	Chr10:49474056	Pathogenic	Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Condition: not provided ERCC6-related disorder Cockayne syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA5495625	rs_751448793	5 SubmittersRCV000668815 RCV001057555 RCV004732993 RCV004576963
NM_000124.4(ERCC6):c.2287-2A>G	SNV Germline	Chr10:49476312	Pathogenic/Likely pathogenic	Cockayne syndrome type 2 Cockayne syndrome Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA5495697	rs_754978734	4 SubmittersRCV001810469 RCV003987654 RCV001855460 RCV002477485
NM_000124.4(ERCC6):c.2286+1G>A	SNV Germline	Chr10:49478353	Pathogenic/Likely pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA376723376	rs_1362935450	3 SubmittersRCV000665459 RCV001855443 RCV005046852
NM_000124.4(ERCC6):c.1398-2A>G	SNV Germline	Chr10:49506014	Conflicting classifications of pathogenicity	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA376730331	rs_1317145066	3 SubmittersRCV000670670 RCV001035343 RCV002531257
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)	SNV Germline	Chr10:49530737	Pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided Inborn genetic diseases Cockayne syndrome type 2 Cockayne syndrome	Criteria Provided Multiple Submitters No Conflicts	CA5496516	rs_771781694	6 SubmittersRCV000666614 RCV001731863 RCV003352980 RCV003338726 RCV004800516
NM_000124.4(ERCC6):c.3984-2A>G	SNV Germline	Chr10:49460453	Likely pathogenic	Cockayne syndrome type 2 DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Condition: not provided	Criteria Provided Single Submitter	CA376708188	rs_1554873973	2 SubmittersRCV000670109 RCV002531244
NM_000124.4(ERCC6):c.1821+1G>A	SNV Germline	Chr10:49493116	Likely pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Single Submitter	CA376726387	rs_1228919836	2 SubmittersRCV000671000 RCV001061869
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly)	SNV Germline	Chr10:49500628	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 DE SANCTIS-CACCHIONE SYNDROME Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5495923	rs_752712823	3 SubmittersRCV000670772 RCV003558509 RCV004768538
NM_000124.4(ERCC6):c.1397+1G>C	SNV Germline	Chr10:49524032	Likely pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA376751819	rs_1554793174	3 SubmittersRCV000665527 RCV001266078 RCV003688869
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter)	SNV Germline	Chr10:49524295	Pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Single Submitter	CA376752794	rs_1554793270	2 SubmittersRCV000670903 RCV001203195
NM_000124.4(ERCC6):c.422+1G>C	SNV Germline	Chr10:49532542	Likely pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Single Submitter	CA376711854	rs_1198472093	2 SubmittersRCV000672335 RCV001238124
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)	SNV Germline	Chr10:49532904	Pathogenic	DE SANCTIS-CACCHIONE SYNDROME Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided See cases ERCC6-related disorder Cockayne syndrome 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA206585604	rs_577021605	6 SubmittersRCV000666618 RCV001381278 RCV002252204 RCV002221572 RCV004579558 RCV005046862
NM_000082.4(ERCC8):c.78-2A>T	SNV Somatic	Chr5:60928961	Pathogenic	Cockayne syndrome type 1	No Assertion Criteria Provided	CA359828879	rs_748379243	1 SubmittersRCV000758079
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg)	SNV Germline	Chr5:60898350	Pathogenic/Likely pathogenic	Cockayne syndrome type 1 Cockayne syndrome UV-sensitive syndrome 2 Cockayne syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3277712	rs_770499406	5 SubmittersRCV000721935 RCV001797788 RCV002477669 RCV002535019
NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter)	SNV Germline	Chr10:49461393	Pathogenic	Cockayne syndrome type 2	No Assertion Criteria Provided	CA376708280	rs_1564725764	1 SubmittersRCV000735200
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)	SNV Germline	Chr5:60904792	Pathogenic/Likely pathogenic	Condition: not provided Cockayne syndrome type 1 Cockayne syndrome Cockayne syndrome type 1 UV-sensitive syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA3277844	rs_148393161	8 SubmittersRCV000799937 RCV001542580 RCV003235400 RCV005036161
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu)	SNV Germline	Chr16:13935719	Conflicting classifications of pathogenicity	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA7910535	rs_751782722	2 SubmittersRCV000820566 RCV003153866
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)	SNV Germline	Chr16:13947765	Pathogenic/Likely pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Condition: not provided XFE progeroid syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Multiple Submitters No Conflicts	CA7910691	rs_2020959	4 SubmittersRCV000822020 RCV001194781 RCV005021255
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly)	SNV Germline	Chr16:13948019	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Ovarian cancer Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7910734	rs_746576915	3 SubmittersRCV000812059 RCV003153852 RCV003353046
NM_000124.4(ERCC6):c.-15+3G>T	SNV Germline	Chr10:49538959	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA915945907	rs_1010201937	1 SubmittersRCV000853311
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)	SNV Germline	Chr16:13926675	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7910210	rs_2020961	4 SubmittersRCV000862022 RCV001292967 RCV002536230 RCV005231406
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro)	SNV Germline	Chr5:60899690	Conflicting classifications of pathogenicity	Condition: not provided Cockayne syndrome type 1 Cockayne syndrome type 1 UV-sensitive syndrome 2	Criteria Provided Conflicting Classifications	CA3277749	rs_150727525	6 SubmittersRCV000871448 RCV001153536 RCV005392487
NM_000124.4(ERCC6):c.2925-8T>A	SNV Germline	Chr10:49471128	Conflicting classifications of pathogenicity	Condition: not provided Cockayne syndrome type 2 Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1	Criteria Provided Conflicting Classifications	CA5495466	rs_147637331	2 SubmittersRCV000902364 RCV001103342 RCV001103341 RCV001108519
NM_000082.4(ERCC8):c.1023A>G (p.Val341=)	SNV Germline	Chr5:60890907	Conflicting classifications of pathogenicity	Condition: not provided Cockayne syndrome type 1 not specified	Criteria Provided Conflicting Classifications	CA3277658	rs_138173863	3 SubmittersRCV000944271 RCV001152253 RCV005436373
NM_000082.4(ERCC8):c.481+1G>C	SNV Germline	Chr5:60904791	Pathogenic	Cockayne syndrome type 1	Criteria Provided Single Submitter	CA359827081	rs_1580007152	1 SubmittersRCV000995540
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter)	SNV Germline	Chr5:60898317	Pathogenic/Likely pathogenic	Condition: not provided Cockayne syndrome type 1 UV-sensitive syndrome 2 Cockayne syndrome type 1 Cockayne syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3277709	rs_370657735	4 SubmittersRCV001040625 RCV001542579 RCV002505567 RCV003226423
NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter)	SNV Germline	Chr10:49482713	Pathogenic	Condition: not provided Cockayne syndrome Cockayne syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA5495761	rs_780538788	3 SubmittersRCV001061824 RCV002469337 RCV003339450
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter)	SNV Germline	Chr10:49483419	Pathogenic/Likely pathogenic	Condition: not provided Cockayne syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA376724899	rs_1851015811	2 SubmittersRCV001063173 RCV001264145
NM_000124.4(ERCC6):c.*4090G>A	SNV Germline	Chr10:49454725	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2	Criteria Provided Conflicting Classifications	CA206612007	rs_117555054	1 SubmittersRCV001103899 RCV001103900 RCV001107525
NM_000124.4(ERCC6):c.*4019A>G	SNV Germline	Chr10:49454796	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1	Criteria Provided Conflicting Classifications	CA206612053	rs_569564278	1 SubmittersRCV001103902 RCV001103901 RCV001103903
NM_000124.4(ERCC6):c.*3280A>G	SNV Germline	Chr10:49455535	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1	Criteria Provided Conflicting Classifications	CA206612518	rs_146690522	1 SubmittersRCV001104002 RCV001104000 RCV001104001
NM_000124.4(ERCC6):c.*2766T>G	SNV Germline	Chr10:49456049	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA206612845	rs_141121035	2 SubmittersRCV001104303 RCV001104301 RCV001104302 RCV003413915
NM_000124.4(ERCC6):c.*2729G>A	SNV Germline	Chr10:49456086	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA206612869	rs_535616736	2 SubmittersRCV001107052 RCV001107051 RCV001104304 RCV003413916
NM_000124.4(ERCC6):c.*813C>T	SNV Germline	Chr10:49458002	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5	Criteria Provided Conflicting Classifications	CA206613989	rs_181327678	1 SubmittersRCV001107328 RCV001107327 RCV001107329
NM_000124.4(ERCC6):c.4430A>G (p.His1477Arg)	SNV Germline	Chr10:49458867	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5495117	rs_114403790	3 SubmittersRCV001104781 RCV001104783 RCV001104782 RCV002558046 RCV004032105
NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly)	SNV Germline	Chr10:49461443	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Condition: not provided 7 conditions	Criteria Provided Conflicting Classifications	CA5495241	rs_139188695	3 SubmittersRCV001103052 RCV001103051 RCV001108249 RCV002558031 RCV005049770
NM_000124.4(ERCC6):c.3123A>G (p.Gln1041=)	SNV Germline	Chr10:49470837	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495405	rs_563142074	2 SubmittersRCV001103248 RCV001105167 RCV001105166 RCV001395466
NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu)	SNV Germline	Chr10:49478436	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495729	rs_201930958	2 SubmittersRCV001105445 RCV001105446 RCV001105447 RCV002558053
NM_000124.4(ERCC6):c.431C>T (p.Thr144Met)	SNV Germline	Chr10:49530832	Conflicting classifications of pathogenicity	Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Condition: not provided ERCC6-related disorder	Criteria Provided Conflicting Classifications	CA5496532	rs_149382642	3 SubmittersRCV001106964 RCV001106962 RCV001106963 RCV003106118 RCV004733157
NM_000124.4(ERCC6):c.1993-12T>C	SNV Germline	Chr10:49482875	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495793	rs_751115103	2 SubmittersRCV001103604 RCV001103605 RCV001108765 RCV002558038
NM_000124.4(ERCC6):c.1686-12G>A	SNV Germline	Chr10:49493264	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Cerebrooculofacioskeletal syndrome 1 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA5495893	rs_774930802	2 SubmittersRCV001108854 RCV001108855 RCV001108856 RCV002069772
NM_000124.4(ERCC6):c.423-7T>C	SNV Germline	Chr10:49530847	Conflicting classifications of pathogenicity	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2 Age related macular degeneration 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA1139661431	rs_1837452924	2 SubmittersRCV001106965 RCV001106966 RCV001106967 RCV001479735
NM_000124.4(ERCC6):c.423-9A>C	SNV Germline	Chr10:49530849	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 Age related macular degeneration 5 Cerebrooculofacioskeletal syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5496533	rs_775274710	2 SubmittersRCV001106968 RCV001107626 RCV001107627 RCV001425763
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=)	SNV Germline	Chr16:13935672	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome	Criteria Provided Conflicting Classifications	CA278472140	rs_374556359	2 SubmittersRCV001119238 RCV002556538
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=)	SNV Germline	Chr16:13947774	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome	Criteria Provided Conflicting Classifications	CA493689735	rs_1255618541	2 SubmittersRCV001121238 RCV001312489
NM_005236.3(ERCC4):c.2514T>C (p.Leu838=)	SNV Germline	Chr16:13948110	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F ERCC4-related disorder Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA7910758	rs_200069811	3 SubmittersRCV001116323 RCV003898110 RCV002558148
NM_005236.3(ERCC4):c.973+11A>T	SNV Germline	Chr16:13930901	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F not specified Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7910316	rs_185779788	4 SubmittersRCV001121129 RCV001819831 RCV002069968 RCV003238307
NM_000082.4(ERCC8):c.945C>T (p.Thr315=)	SNV Germline	Chr5:60890985	Conflicting classifications of pathogenicity	Cockayne syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA444462712	rs_1173045461	2 SubmittersRCV001152255 RCV002559469
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys)	SNV Germline	Chr16:13947844	Conflicting classifications of pathogenicity	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Spastic ataxia	Criteria Provided Conflicting Classifications	CA7910710	rs_374978891	2 SubmittersRCV001211525 RCV001644951
NM_005236.3(ERCC4):c.793-2A>G	SNV Germline	Chr16:13930708	Pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome	Criteria Provided Single Submitter	CA394803715	rs_2032155264	1 SubmittersRCV001212995
NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala)	SNV Germline	Chr5:60898322	Likely pathogenic	Cockayne syndrome type 1	Criteria Provided Single Submitter	CA359824919	rs_281875225	1 SubmittersRCV001250422
NM_000124.4(ERCC6):c.543+1G>T	SNV Germline	Chr10:49530719	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376710157	rs_1837448977	1 SubmittersRCV001251189
NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe)	SNV Germline	Chr5:60922127	Pathogenic	Cockayne syndrome type 1	No Assertion Criteria Provided	CA359828265	rs_1749617646	1 SubmittersRCV001271099
NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter)	SNV Unknown	Chr5:60890954	Likely pathogenic	Cockayne syndrome type 1	Criteria Provided Single Submitter	CA359823157	rs_1748527879	1 SubmittersRCV001264150
NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter)	SNV Unknown	Chr5:60891027	Likely pathogenic	Cockayne syndrome type 1	Criteria Provided Single Submitter	CA359823468	rs_1748531932	1 SubmittersRCV001264151
NM_000082.4(ERCC8):c.642G>A (p.Trp214Ter)	SNV Unknown	Chr5:60899703	Likely pathogenic	Cockayne syndrome type 1	Criteria Provided Single Submitter	CA359825750	rs_1748819276	1 SubmittersRCV001264271
NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter)	SNV Unknown	Chr5:60918267	Likely pathogenic	Cockayne syndrome type 1	Criteria Provided Single Submitter	CA359827822	rs_1749495521	1 SubmittersRCV001264272
NM_000082.4(ERCC8):c.300C>A (p.Tyr100Ter)	SNV Unknown	Chr5:60918364	Likely pathogenic	Cockayne syndrome type 1	Criteria Provided Single Submitter	CA359828036	rs_143367518	1 SubmittersRCV001264273
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter)	SNV Germline	Chr5:60922147	Pathogenic/Likely pathogenic	Cockayne syndrome type 1 Condition: not provided Cockayne syndrome type 1 UV-sensitive syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA359828306	rs_1749618632	4 SubmittersRCV001264274 RCV001880077 RCV005038020
NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter)	SNV Unknown	Chr5:60928942	Likely pathogenic	Cockayne syndrome type 1	Criteria Provided Single Submitter	CA359828842	rs_1749828987	1 SubmittersRCV001264275
NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter)	SNV Unknown	Chr10:49470203	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376712404	rs_1850747928	1 SubmittersRCV001264262
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter)	SNV Germline	Chr10:49470305	Likely pathogenic	Cockayne syndrome type 2 Condition: not provided	Criteria Provided Single Submitter	CA376713035	rs_1850750513	2 SubmittersRCV001263687 RCV003151297
NM_000124.4(ERCC6):c.3637A>T (p.Arg1213Ter)	SNV Unknown	Chr10:49470323	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376713159	rs_2228527	1 SubmittersRCV001263688
NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter)	SNV Unknown	Chr10:49470386	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376713684	rs_1850753467	1 SubmittersRCV001263689
NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter)	SNV Unknown	Chr10:49470416	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376713931	rs_1850754584	1 SubmittersRCV001263690
NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter)	SNV Unknown	Chr10:49470495	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376714593	rs_1286402535	1 SubmittersRCV001263691
NM_000124.4(ERCC6):c.3448A>T (p.Lys1150Ter)	SNV Unknown	Chr10:49470512	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376714741	rs_1850757159	1 SubmittersRCV001263692
NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter)	SNV Unknown	Chr10:49470605	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376715514	rs_1850759141	1 SubmittersRCV001263693
NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter)	SNV Unknown	Chr10:49470863	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376717102	rs_1850766086	1 SubmittersRCV001263694
NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter)	SNV Unknown	Chr10:49470975	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376717272	rs_1850769140	1 SubmittersRCV001263767
NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter)	SNV Unknown	Chr10:49471038	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376717573	rs_1850770605	1 SubmittersRCV001263768
NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter)	SNV Unknown	Chr10:49472454	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376718659	rs_1850797541	1 SubmittersRCV001263769
NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter)	SNV Unknown	Chr10:49472931	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376719054	rs_1283213117	1 SubmittersRCV001263770
NM_000124.4(ERCC6):c.2566C>T (p.Gln856Ter)	SNV Unknown	Chr10:49474059	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376721268	rs_1850831525	1 SubmittersRCV001263771
NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter)	SNV Unknown	Chr10:49474082	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376721355	rs_1850832063	1 SubmittersRCV001263772
NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter)	SNV Unknown	Chr10:49474121	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376721499	rs_1850832795	1 SubmittersRCV001263773
NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter)	SNV Unknown	Chr10:49476217	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376722281	rs_1850874595	1 SubmittersRCV001263774
NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter)	SNV Unknown	Chr10:49478439	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376723774	rs_1850916835	1 SubmittersRCV001264144
NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter)	SNV Unknown	Chr10:49493122	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376726399	rs_961060711	1 SubmittersRCV001264146
NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter)	SNV Unknown	Chr10:49493161	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376726478	rs_768188064	1 SubmittersRCV001264147
NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter)	SNV Unknown	Chr10:49505894	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376729686	rs_1851434105	1 SubmittersRCV001264148
NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter)	SNV Germline	Chr10:49528495	Pathogenic/Likely pathogenic	Cockayne syndrome type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA376709370	rs_1837393519	2 SubmittersRCV001264149 RCV001880074
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)	SNV Germline	Chr16:13935323	Conflicting classifications of pathogenicity	Ovarian cancer XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome	Criteria Provided Conflicting Classifications	CA7910457	rs_780488548	3 SubmittersRCV003153976 RCV005014361 RCV001300359
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)	SNV Germline	Chr16:13935734	Conflicting classifications of pathogenicity	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum Condition: not provided not specified Xeroderma pigmentosum, group F Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7910540	rs_138532294	6 SubmittersRCV001294384 RCV002258183 RCV005051884 RCV001819982 RCV005601734 RCV005550237
NM_000082.4(ERCC8):c.275+1G>T	SNV Germline	Chr5:60922053	Conflicting classifications of pathogenicity	Condition: not provided Abnormality of the nervous system Cockayne syndrome type 1	Criteria Provided Conflicting Classifications	CA359828103	rs_2112522829	3 SubmittersRCV001377498 RCV001814312 RCV004546644
NM_005236.3(ERCC4):c.1102+1G>T	SNV Germline	Chr16:13932286	Likely pathogenic	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum	Criteria Provided Multiple Submitters No Conflicts	CA394806012	rs_1314323456	2 SubmittersRCV001377820 RCV003226467
NM_000082.4(ERCC8):c.1041+1G>T	SNV Germline	Chr5:60890888	Pathogenic/Likely pathogenic	Condition: not provided Cockayne syndrome type 1 UV-sensitive syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA359823000	rs_1290416270	2 SubmittersRCV001388975 RCV005038206
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)	SNV Germline	Chr16:13920187	Pathogenic	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Single Submitter	CA394815859	rs_774510191	1 SubmittersRCV001389442
NM_005236.3(ERCC4):c.537A>G (p.Glu179=)	SNV Germline	Chr16:13926709	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome not specified Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA7910215	rs_373408411	3 SubmittersRCV001437611 RCV001820131 RCV002258256
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu)	SNV Germline	Chr10:49478428	Conflicting classifications of pathogenicity	Cockayne syndrome type 2 7 conditions Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5495725	rs_373277796	4 SubmittersRCV001808287 RCV002482341 RCV003163947 RCV002541471
NM_005236.3(ERCC4):c.576G>C (p.Leu192=)	SNV Germline	Chr16:13926748	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome	Criteria Provided Conflicting Classifications	CA493424896	rs_2141944936	2 SubmittersRCV001820410 RCV002074332
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)	SNV Germline	Chr16:13926751	Pathogenic	Condition: not provided Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome ERCC4-Related Disorders	Criteria Provided Multiple Submitters No Conflicts	CA7910224	rs_753325454	3 SubmittersRCV001817844 RCV001869789 RCV004782796
NM_000082.4(ERCC8):c.174C>A (p.Tyr58Ter)	SNV Germline	Chr5:60922155	Pathogenic/Likely pathogenic	ERCC8-related disorder Cockayne syndrome type 1 UV-sensitive syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3277921	rs_530679736	3 SubmittersRCV003394304 RCV005038394 RCV001905194
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter)	SNV Germline	Chr16:13935183	Pathogenic	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Single Submitter	CA7910429	rs_762738968	1 SubmittersRCV001919468
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)	SNV Germline	Chr16:13920223	Pathogenic	Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q	Criteria Provided Single Submitter	CA394816007	rs_1355878901	1 SubmittersRCV002037756
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val)	SNV Germline	Chr16:13947832	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA394822651	rs_756050702	2 SubmittersRCV002034990 RCV005552438
NM_005236.3(ERCC4):c.2016C>T (p.Ala672=)	SNV Germline	Chr16:13944834	Conflicting classifications of pathogenicity	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7910637	rs_775414253	2 SubmittersRCV002015265 RCV005242145
NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter)	SNV Germline	Chr10:49524580	Pathogenic	Cockayne syndrome type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA376754391	rs_2132621608	2 SubmittersRCV002237201 RCV003120845
NM_000082.4(ERCC8):c.523T>C (p.Ser175Pro)	SNV Germline	Chr5:60903675	Likely pathogenic	Cockayne syndrome type 1	Criteria Provided Single Submitter	CA359826782	rs_2531798461	1 SubmittersRCV002284299
NM_000124.4(ERCC6):c.3322G>T (p.Gly1108Ter)	SNV Unknown	Chr10:49470638	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376715712	rs_143502251	1 SubmittersRCV002306575
NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter)	SNV Unknown	Chr10:49493219	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376726611	rs_2496033437	1 SubmittersRCV002306781
NM_000124.4(ERCC6):c.1926T>A (p.Tyr642Ter)	SNV Unknown	Chr10:49483412	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376724857	rs_2496008991	1 SubmittersRCV002309583
NM_000082.4(ERCC8):c.559C>T (p.Gln187Ter)	SNV Unknown	Chr5:60902500	Likely pathogenic	Cockayne syndrome type 1	Criteria Provided Single Submitter	CA359826041	rs_2531795554	1 SubmittersRCV002309610
NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter)	SNV Unknown	Chr10:49528450	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376709157	rs_746159424	1 SubmittersRCV002310046
NM_000124.4(ERCC6):c.1342A>T (p.Lys448Ter)	SNV Unknown	Chr10:49524088	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376752009	rs_2496137655	1 SubmittersRCV002308028
NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter)	SNV Unknown	Chr10:49524655	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376754901	rs_2496141694	1 SubmittersRCV002308235
NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter)	SNV Unknown	Chr10:49530800	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376710570	rs_755905226	1 SubmittersRCV002308255
NM_000124.4(ERCC6):c.1213A>T (p.Lys405Ter)	SNV Unknown	Chr10:49524217	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376752437	rs_2496138678	1 SubmittersRCV002309394
NM_000124.4(ERCC6):c.454A>T (p.Lys152Ter)	SNV Unknown	Chr10:49530809	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376710609	rs_2496167334	1 SubmittersRCV002309474
NM_000124.4(ERCC6):c.1914T>A (p.Tyr638Ter)	SNV Unknown	Chr10:49483424	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376724923	rs_754025384	1 SubmittersRCV002307349
NM_000124.4(ERCC6):c.1174G>T (p.Glu392Ter)	SNV Unknown	Chr10:49524256	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376752604	rs_1226553506	1 SubmittersRCV002310215
NM_000124.4(ERCC6):c.2035C>T (p.Gln679Ter)	SNV Unknown	Chr10:49482821	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376724412	rs_2496007406	1 SubmittersRCV002310315
NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)	SNV Unknown	Chr10:49472942	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376719135	rs_2495980573	1 SubmittersRCV002310323
NM_000124.4(ERCC6):c.3682A>T (p.Lys1228Ter)	SNV Unknown	Chr10:49470278	Likely pathogenic	Cockayne syndrome type 2	Criteria Provided Single Submitter	CA376712892	rs_2495970774	1 SubmittersRCV002310431
NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter)	SNV Germline	Chr10:49470701	Pathogenic/Likely pathogenic	Condition: not provided Cockayne syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA5495380	rs_144445150	3 SubmittersRCV002462394 RCV003227073
NM_000124.4(ERCC6):c.1939G>A (p.Glu647Lys)	SNV Germline	Chr10:49483399	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided not specified Cockayne syndrome type 2	Criteria Provided Conflicting Classifications	CA376724803	rs_1163269726	5 SubmittersRCV002571566 RCV002508691 RCV004700771 RCV004796737
NM_000124.4(ERCC6):c.1685+5G>A	SNV Germline	Chr10:49500533	Conflicting classifications of pathogenicity	Condition: not provided Cockayne syndrome type 2	Criteria Provided Conflicting Classifications	CA593368309	rs_1349103905	2 SubmittersRCV003072456 RCV004594668
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)	SNV Germline	Chr16:13930789	Pathogenic	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Single Submitter	CA278466697	rs_900093826	1 SubmittersRCV002595685
NM_000124.4(ERCC6):c.2054T>C (p.Leu685Pro)	SNV Germline	Chr10:49482802	Conflicting classifications of pathogenicity	Condition: not provided Cockayne syndrome type 2	Criteria Provided Conflicting Classifications	CA376724372	rs_1275257135	2 SubmittersRCV002736135 RCV004765558
NM_005236.3(ERCC4):c.100G>A (p.Val34Met)	SNV Germline	Chr16:13920265	Conflicting classifications of pathogenicity	Ovarian cancer Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA394816150	rs_61731714	2 SubmittersRCV003154735 RCV003778920
NM_000082.4(ERCC8):c.275+1G>A	SNV Germline	Chr5:60922053	Pathogenic	Cockayne syndrome	Criteria Provided Single Submitter	CA359828105	rs_2112522829	1 SubmittersRCV003493354
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)	SNV Germline	Chr16:13920313	Pathogenic	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Single Submitter	CA394816321	rs_2543161364	1 SubmittersRCV003797867
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)	SNV Germline	Chr16:13930773	Pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome	Criteria Provided Single Submitter	CA7910293	rs_750971687	1 SubmittersRCV003781269
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)	SNV Germline	Chr16:13935308	Pathogenic/Likely pathogenic	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Condition: not provided XFE progeroid syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Multiple Submitters No Conflicts	CA7910452	rs_201179693	3 SubmittersRCV003781677 RCV005242434 RCV005014966
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)	SNV Germline	Chr16:13937856	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q XFE progeroid syndrome	Criteria Provided Conflicting Classifications	CA7910587	rs_749634352	2 SubmittersRCV003788402 RCV004784178
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)	SNV Germline	Chr16:13930803	Pathogenic	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Single Submitter	CA7910296	rs_753149023	1 SubmittersRCV003792676
NM_000082.4(ERCC8):c.547C>T (p.Gln183Ter)	SNV Germline	Chr5:60903651	Pathogenic/Likely pathogenic	Condition: not provided UV-sensitive syndrome 2 Cockayne syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA359826663	rs_1748966825	2 SubmittersRCV003859854 RCV005040578
NM_000082.4(ERCC8):c.550+2T>C	SNV Unknown	Chr5:60903646	Likely pathogenic	Cockayne syndrome type 1	Criteria Provided Single Submitter		rs_2531798342	1 SubmittersRCV004566559
NM_001277058.2(ERCC6):c.3091C>T (p.Arg1031Ter)	SNV Germline	Chr10:49515428	Likely pathogenic	Cockayne syndrome type 2 ERCC6-related disorder	Criteria Provided Single Submitter		rs_747903426	2 SubmittersRCV004576130 RCV004723610
NM_000082.4(ERCC8):c.1041G>A (p.Gln347=)	SNV Germline	Chr5:60890889	Pathogenic	Cockayne syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005055408
NM_000082.4(ERCC8):c.176T>C (p.Met59Thr)	SNV Germline	Chr5:60922153	Pathogenic/Likely pathogenic	Cockayne syndrome UV-sensitive syndrome 2 Cockayne syndrome type 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004701204 RCV005038792
NM_000082.4(ERCC8):c.968C>G (p.Ser323Ter)	SNV Germline	Chr5:60890962	Likely pathogenic	Cockayne syndrome type 1 UV-sensitive syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005037639
NM_000082.4(ERCC8):c.718+2T>C	SNV Germline	Chr5:60899625	Likely pathogenic	Cockayne syndrome type 1 UV-sensitive syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005037640
NM_000082.4(ERCC8):c.482-1G>T	SNV Germline	Chr5:60903717	Likely pathogenic	Cockayne syndrome type 1 UV-sensitive syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005037642
NM_000082.4(ERCC8):c.68C>G (p.Ser23Ter)	SNV Germline	Chr5:60944941	Likely pathogenic	Cockayne syndrome type 1 UV-sensitive syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005037644
NM_000082.4(ERCC8):c.2T>G (p.Met1Arg)	SNV Germline	Chr5:60945007	Pathogenic	Cockayne syndrome type 1 UV-sensitive syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005037646
NM_005236.3(ERCC4):c.792+1G>A	SNV Germline	Chr16:13928236	Likely pathogenic	Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q	Criteria Provided Single Submitter			1 SubmittersRCV005215661
NM_005236.3(ERCC4):c.891T>G (p.Tyr297Ter)	SNV Germline	Chr16:13930808	Pathogenic	Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F	Criteria Provided Single Submitter			1 SubmittersRCV005210613
NM_001277058.2(ERCC6):c.1887C>G (p.Tyr629Ter)	SNV Germline	Chr10:49516632	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV005360450
NM_000124.4(ERCC6):c.3125C>T (p.Pro1042Leu)	SNV Germline	Chr10:49470835	Likely pathogenic	Cockayne syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005407540

NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter)

SNV
Germline

Chr10:49500673

Pathogenic

Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Single Submitter

CA251917

rs_121917900

2 SubmittersRCV000001768 RCV001851561

NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)

SNV
Germline

Chr10:49478437

Pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cockayne syndrome type 2
ERCC6-related disorder
Condition: not provided
Cerebrooculofacioskeletal syndrome 1
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA115152

rs_121917901

17 SubmittersRCV000001770 RCV000001769 RCV000406377 RCV000521977 RCV001199022 RCV002476910

NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)

SNV
Germline

Chr10:49524073

Pathogenic

Cockayne syndrome type 2
Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
7 conditions
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA251920

rs_121917902

6 SubmittersRCV000001772 RCV000669858 RCV000763212 RCV001384070 RCV005041966

NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)

SNV
Germline

Chr10:49470676

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
not specified
Cerebrooculofacioskeletal syndrome 1
Condition: not provided
Age related macular degeneration 5
DE SANCTIS-CACCHIONE SYNDROME

Criteria Provided
Conflicting Classifications

CA199597

rs_4253208

10 SubmittersRCV000001776 RCV000170384 RCV000345279 RCV000224059 RCV000291488 RCV000988354

NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter)

SNV
Germline

Chr10:49532736

Pathogenic

UV-sensitive syndrome 1
Cockayne syndrome type 2
Condition: not provided
Cockayne syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA115155

rs_121917903

4 SubmittersRCV000001777 RCV000502276 RCV001851562 RCV003230340

NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)

SNV
Germline

Chr10:49482809

Pathogenic/Likely pathogenic

Cerebrooculofacioskeletal syndrome 1
Condition: not provided
ERCC6-related disorder
DE SANCTIS-CACCHIONE SYNDROME
7 conditions
Cockayne syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA115159

rs_121917904

7 SubmittersRCV000001781 RCV001236985 RCV000333649 RCV000983998 RCV002490293 RCV005245478

NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter)

SNV
Germline

Chr5:60890964

Pathogenic

Cockayne syndrome type 1
Condition: not provided
Cockayne syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA251925

rs_121434323

3 SubmittersRCV000001785 RCV001388976 RCV003330380

NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)

SNV
Germline

Chr5:60904794

Pathogenic/Likely pathogenic

Cockayne syndrome type 1
Condition: not provided
Cockayne syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA219852

rs_121434325

7 SubmittersRCV000001787 RCV000059647 RCV005406718

NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)

SNV
Germline

Chr5:60902446

Pathogenic/Likely pathogenic

Cockayne syndrome type 1
Condition: not provided
Cockayne syndrome type 1
UV-sensitive syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA219858

rs_121434326

6 SubmittersRCV000001788 RCV000059650 RCV005031380

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

SNV
Germline

Chr13:102861621

Pathogenic

Xeroderma pigmentosum group G/Cockayne syndrome

No Assertion Criteria Provided

CA126677

rs_121434572

1 SubmittersRCV000018038

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

SNV
Germline

Chr13:102856110

Pathogenic

Xeroderma pigmentosum group G/Cockayne syndrome

No Assertion Criteria Provided

CA126680

rs_121434573

1 SubmittersRCV000018039

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

SNV
Germline

Chr13:102852244

Pathogenic

Xeroderma pigmentosum group G/Cockayne syndrome

No Assertion Criteria Provided

CA126683

rs_121434574

1 SubmittersRCV000018040

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

SNV
Germline

Chr16:13947991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA126686

rs_121913049

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

NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)

SNV
Germline

Chr19:45414870

Pathogenic

Cerebrooculofacioskeletal syndrome 4
Cockayne syndrome

No Assertion Criteria Provided

CA126880

rs_121913028

2 SubmittersRCV000018266 RCV000252117

NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)

SNV
Germline

Chr10:49461473

Pathogenic

Cerebrooculofacioskeletal syndrome 1
Condition: not provided
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cockayne syndrome type 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA129817

rs_185142838

10 SubmittersRCV000024284 RCV000733375 RCV000671085 RCV000784896 RCV000622864

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

SNV
Germline

Chr16:13947661

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA143933

rs_149364215

5 SubmittersRCV000049245 RCV001067959 RCV005016345 RCV003144119 RCV004700343

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

SNV
Germline

Chr16:13928149

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA143938

rs_397509403

3 SubmittersRCV000049248 RCV001568088 RCV004814985

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

SNV
Germline

Chr16:13935697

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA143941

rs_147105770

7 SubmittersRCV000049250 RCV000700109 RCV000762956 RCV002222373 RCV003415812 RCV005429220

NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr)

SNV
Germline

Chr5:60904795

Likely pathogenic

Condition: not provided
Cockayne syndrome type 1
Cockayne syndrome type 1
UV-sensitive syndrome 2
Cockayne syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA219850

rs_281875222

4 SubmittersRCV000059646 RCV000664947 RCV005031550 RCV004525867

NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly)

SNV
Germline

Chr5:60898322

Pathogenic/Likely pathogenic

Condition: not provided
Cockayne syndrome type 1
UV-sensitive syndrome 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA219860

rs_281875225

5 SubmittersRCV000059651 RCV005042185 RCV001266293

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

SNV
Germline

Chr16:13948141

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158873

rs_374186605

7 SubmittersRCV000120810 RCV000535348 RCV002515858 RCV003153389 RCV003315749 RCV002257428 RCV002470769

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

SNV
Germline

Chr16:13948175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158876

rs_4986933

11 SubmittersRCV000120811 RCV000476568 RCV000989535 RCV002515859 RCV004704960 RCV005251066 RCV002257429 RCV001034545

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

SNV
Germline

Chr16:13948330

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158885

rs_150077735

5 SubmittersRCV000120814 RCV000474309 RCV001356061 RCV003315750

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

SNV
Germline

Chr16:13947713

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158888

rs_1800069

13 SubmittersRCV000120815 RCV001332584 RCV003915202 RCV001121237 RCV000463526 RCV005251067 RCV001788036 RCV002257430 RCV001354835 RCV002515860

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

SNV
Germline

Chr16:13922034

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158897

rs_145315496

5 SubmittersRCV000120818 RCV001209805 RCV001543122 RCV000728799

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

SNV
Germline

Chr16:13934224

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158906

rs_1799802

12 SubmittersRCV000120821 RCV000224511 RCV001116216 RCV003224157 RCV001083882 RCV005251068 RCV002257432 RCV003925183

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

SNV
Germline

Chr16:13935420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158912

rs_146601373

10 SubmittersRCV000120823 RCV000459235 RCV001117661 RCV002258800 RCV004704961 RCV001034544 RCV002515862 RCV005251069

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

SNV
Germline

Chr16:13935347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158918

rs_572439259

5 SubmittersRCV000120825 RCV005394415 RCV005229925 RCV000651482 RCV001294104

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

SNV
Germline

Chr16:13935495

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158921

rs_41552412

13 SubmittersRCV000120826 RCV000343662 RCV000546465 RCV000764023 RCV001292825 RCV001355143 RCV003975071 RCV005251070 RCV002258801

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

SNV
Germline

Chr16:13935538

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158933

rs_143347563

4 SubmittersRCV000120830 RCV000989533 RCV001854624 RCV004786378

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

SNV
Germline

Chr16:13935659

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158936

rs_1800068

14 SubmittersRCV000120831 RCV000651477 RCV001119237 RCV001357601 RCV002257433 RCV002055332 RCV001294105 RCV002515863 RCV005251071

NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter)

SNV
Germline

Chr10:49461431

Pathogenic

Cockayne syndrome type 2
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA274710

rs_786205174

3 SubmittersRCV000170389 RCV001850426 RCV005042366

NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)

SNV
Germline

Chr10:49470838

Conflicting classifications of pathogenicity

not specified
COFS syndrome
7 conditions
Condition: not provided
DE SANCTIS-CACCHIONE SYNDROME
Cockayne syndrome
Macular degeneration
Inborn genetic diseases
Cone-rod dystrophy
Intellectual disability

Criteria Provided
Conflicting Classifications

CA199591

rs_139007661

13 SubmittersRCV000170382 RCV000358951 RCV000515412 RCV000724216 RCV000988355 RCV000266566 RCV000323987 RCV002516541 RCV005625356 RCV005625357

NM_000124.4(ERCC6):c.2830-2A>G

SNV
Germline

Chr10:49472472

Pathogenic

Cockayne syndrome type 2
Condition: not provided
7 conditions
DE SANCTIS-CACCHIONE SYNDROME

Criteria Provided
Multiple Submitters
No Conflicts

CA274705

rs_373227647

6 SubmittersRCV000170381 RCV000397640 RCV000762809 RCV000984002

NM_000124.4(ERCC6):c.2599-26A>G

SNV
Germline

Chr10:49473613

Pathogenic/Likely pathogenic

Cockayne syndrome type 2
Cockayne syndrome
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA274704

rs_4253196

7 SubmittersRCV000170380 RCV002271444 RCV000666576 RCV001236817 RCV005049451

NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)

SNV
Germline

Chr10:49482689

Pathogenic/Likely pathogenic

Cockayne syndrome type 2
Condition: not provided
ERCC6-related disorder
DE SANCTIS-CACCHIONE SYNDROME
7 conditions
Cockayne syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA274701

rs_151242354

13 SubmittersRCV000170378 RCV000256036 RCV000778283 RCV000983999 RCV002505228 RCV002271443 RCV003352790

NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp)

SNV
Germline

Chr10:49482848

Pathogenic

Cockayne syndrome type 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274698

rs_202080674

3 SubmittersRCV000170376 RCV000624050 RCV002515215

NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)

SNV
Germline

Chr10:49482860

Conflicting classifications of pathogenicity

not specified
7 conditions
COFS syndrome
Condition: not provided
Cockayne syndrome
Inborn genetic diseases
Macular degeneration
Intellectual disability
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA199585

rs_61760163

16 SubmittersRCV000170374 RCV000515272 RCV000289884 RCV000724215 RCV000344840 RCV002515214 RCV000384253 RCV005625355 RCV005625354

NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)

SNV
Germline

Chr10:49483384

Pathogenic/Likely pathogenic

Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cockayne syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274694

rs_767247987

4 SubmittersRCV000170373 RCV000667169 RCV003491926 RCV001227175

NM_000124.4(ERCC6):c.1526+1G>T

SNV
Germline

Chr10:49505883

Pathogenic/Likely pathogenic

Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cockayne syndrome
Condition: not provided
7 conditions
Cockayne spectrum with or without cerebrooculofacioskeletal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA274690

rs_371739894

9 SubmittersRCV000170365 RCV000983983 RCV001280930 RCV000723622 RCV005042364 RCV005361058

NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe)

SNV
Germline

Chr10:49524760

Conflicting classifications of pathogenicity

not specified
Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Cockayne syndrome type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA199603

rs_150935953

6 SubmittersRCV000170393 RCV000287342 RCV000340086 RCV000404438 RCV000726037 RCV002515216

NM_000124.4(ERCC6):c.150G>A (p.Val50=)

SNV
Germline

Chr10:49532815

Conflicting classifications of pathogenicity

not specified
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA199575

rs_80133923

5 SubmittersRCV000170367 RCV000314736 RCV000335795 RCV000402991 RCV000871118

NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln)

SNV
Germline

Chr10:49482808

Conflicting classifications of pathogenicity

Condition: not provided
Cockayne syndrome type 2
Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
6 conditions

Criteria Provided
Conflicting Classifications

CA239092

rs_148845653

5 SubmittersRCV000173643 RCV000318448 RCV000354594 RCV000259781 RCV005396522

NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)

SNV
Germline

Chr10:49472376

Conflicting classifications of pathogenicity

Condition: not provided
COFS syndrome
Macular degeneration
ERCC6-related disorder
Cockayne syndrome

Criteria Provided
Conflicting Classifications

CA240638

rs_145720191

10 SubmittersRCV000174989 RCV000397231 RCV000364521 RCV004537372 RCV000307545

NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val)

SNV
Germline

Chr10:49470984

Conflicting classifications of pathogenicity

Condition: not provided
Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
6 conditions
Cockayne syndrome type 2
ERCC6-related disorder

Criteria Provided
Conflicting Classifications

CA240809

rs_41562713

10 SubmittersRCV000175123 RCV000270778 RCV000328199 RCV005396529 RCV000363004 RCV004537373

NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys)

SNV
Germline

Chr5:60898280

Conflicting classifications of pathogenicity

not specified
Cockayne syndrome type 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
ERCC8-related disorder

Criteria Provided
Conflicting Classifications

CA247938

rs_61754098

7 SubmittersRCV000180462 RCV000332330 RCV000584926 RCV001374546 RCV003917681

NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)

SNV
Germline

Chr10:49474074

Pathogenic/Likely pathogenic

Cockayne syndrome type 2
Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Condition: not provided
Cockayne syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277416

rs_368728467

5 SubmittersRCV000195010 RCV000675120 RCV001063571 RCV001844081

NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)

SNV
Germline

Chr10:49530797

Pathogenic/Likely pathogenic

Cockayne syndrome type 2
Condition: not provided
DE SANCTIS-CACCHIONE SYNDROME
6 conditions
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA277210

rs_751838040

7 SubmittersRCV000193828 RCV000224212 RCV000984001 RCV005396581 RCV002485298

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

SNV
Germline

Chr16:13932151

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA249006

rs_201181735

10 SubmittersRCV000353369 RCV000202807 RCV000964431 RCV003417735 RCV002257501 RCV005251092

NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)

SNV
Germline

Chr10:49528426

Pathogenic

Premature ovarian failure 11
Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA10576142

rs_875989810

4 SubmittersRCV000211122 RCV000674902 RCV001061726 RCV005044434

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

SNV
Germline

Chr16:13926675

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910211

rs_2020961

4 SubmittersRCV000226103 RCV001294109 RCV003929973 RCV005016640

NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp)

SNV
Germline

Chr10:49532565

Conflicting classifications of pathogenicity

not specified
Macular degeneration
COFS syndrome
Cockayne syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5496559

rs_148095899

4 SubmittersRCV000238687 RCV000289449 RCV000381521 RCV000329237 RCV000873158

NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)

SNV
Germline

Chr10:49482760

Conflicting classifications of pathogenicity

Cockayne syndrome
Macular degeneration
Condition: not provided
COFS syndrome
ERCC6-related disorder

Criteria Provided
Conflicting Classifications

CA5495770

rs_55698015

7 SubmittersRCV000263243 RCV000304579 RCV000725973 RCV000358004 RCV004535380

NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys)

SNV
Germline

Chr10:49470310

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495307

rs_61760166

6 SubmittersRCV000307135 RCV000364264 RCV000397087 RCV000513602

NM_000082.4(ERCC8):c.1105G>C (p.Val369Leu)

SNV
Germline

Chr5:60887457

Conflicting classifications of pathogenicity

Cockayne syndrome type 1
Condition: not provided
Cockayne syndrome type 1
UV-sensitive syndrome 2

Criteria Provided
Conflicting Classifications

CA3277626

rs_543291626

3 SubmittersRCV000310103 RCV000951221 RCV005398481

NM_000082.4(ERCC8):c.149A>G (p.Asp50Gly)

SNV
Germline

Chr5:60928888

Conflicting classifications of pathogenicity

Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3277948

rs_373174008

2 SubmittersRCV000394430 RCV000967836

NM_000082.4(ERCC8):c.66G>A (p.Glu22=)

SNV
Germline

Chr5:60944943

Conflicting classifications of pathogenicity

Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3277978

rs_149130938

4 SubmittersRCV000290754 RCV000728851

NM_000082.4(ERCC8):c.551-10G>T

SNV
Germline

Chr5:60902518

Conflicting classifications of pathogenicity

Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3277792

rs_758296965

2 SubmittersRCV000259268 RCV001452977

NM_000082.4(ERCC8):c.472T>C (p.Leu158=)

SNV
Germline

Chr5:60904801

Conflicting classifications of pathogenicity

Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3277845

rs_561001438

3 SubmittersRCV000316833 RCV000946093

NM_000082.4(ERCC8):c.173+9A>G

SNV
Germline

Chr5:60928855

Conflicting classifications of pathogenicity

Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3277940

rs_143356896

2 SubmittersRCV000344512 RCV000913473

NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=)

SNV
Germline

Chr10:49470507

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495351

rs_771604820

3 SubmittersRCV000260758 RCV000314768 RCV000353181 RCV000671962 RCV003765765

NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp)

SNV
Germline

Chr10:49470569

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Cockayne syndrome type 2
Inborn genetic diseases
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA5495358

rs_147079519

6 SubmittersRCV000264621 RCV000318342 RCV000375317 RCV002520594 RCV000994389 RCV005396929

NM_000124.4(ERCC6):c.2829+11A>T

SNV
Germline

Chr10:49472898

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495523

rs_777251839

2 SubmittersRCV000275855 RCV000333330 RCV000371658 RCV002059553

NM_000124.4(ERCC6):c.2287-4G>A

SNV
Germline

Chr10:49476314

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495699

rs_375617750

3 SubmittersRCV000295862 RCV000350825 RCV000371562 RCV000729619

NM_000124.4(ERCC6):c.1482C>T (p.Asp494=)

SNV
Germline

Chr10:49505928

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495960

rs_150762517

3 SubmittersRCV000289491 RCV000326056 RCV000380599 RCV000667559 RCV001470692

NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys)

SNV
Germline

Chr10:49505975

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495972

rs_61749175

2 SubmittersRCV000280376 RCV000335550 RCV000402785 RCV003114473

NM_000124.4(ERCC6):c.1229G>A (p.Gly410Asp)

SNV
Germline

Chr10:49524201

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5496364

rs_138865542

2 SubmittersRCV000265852 RCV000318351 RCV000376746 RCV000943556

NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys)

SNV
Germline

Chr10:49524271

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5496377

rs_148295935

4 SubmittersRCV000296235 RCV000348685 RCV000388161 RCV000923032 RCV004975422

NM_000124.4(ERCC6):c.384C>T (p.Asp128=)

SNV
Germline

Chr10:49532581

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5496562

rs_146165518

2 SubmittersRCV000283340 RCV000323401 RCV000380147 RCV000936177

NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile)

SNV
Germline

Chr10:49458904

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Cockayne syndrome type 2
Condition: not provided
Inborn genetic diseases
6 conditions

Criteria Provided
Conflicting Classifications

CA5495122

rs_201813523

5 SubmittersRCV000262594 RCV000316584 RCV000375860 RCV000483087 RCV002520592 RCV005396928

NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)

SNV
Germline

Chr10:49459074

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
not specified
Condition: not provided
DE SANCTIS-CACCHIONE SYNDROME
ERCC6-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA5495149

rs_61760167

9 SubmittersRCV000298443 RCV000352090 RCV000397993 RCV000592732 RCV000865073 RCV000988351 RCV004544502 RCV005625526

NM_000124.4(ERCC6):c.3804C>T (p.His1268=)

SNV
Germline

Chr10:49461531

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495259

rs_116032070

2 SubmittersRCV000294639 RCV000351894 RCV000386805 RCV000873518

NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser)

SNV
Germline

Chr10:49470769

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5495391

rs_200093886

3 SubmittersRCV000313595 RCV000348563 RCV000403215 RCV002522159 RCV004021475

NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met)

SNV
Germline

Chr10:49472997

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Age related macular degeneration 5
Condition: not provided
6 conditions
ERCC6-related disorder

Criteria Provided
Conflicting Classifications

CA5495546

rs_142580756

7 SubmittersRCV000288031 RCV000343009 RCV000404286 RCV001812787 RCV005396930 RCV004732837

NM_000124.4(ERCC6):c.2697G>A (p.Thr899=)

SNV
Germline

Chr10:49473489

Conflicting classifications of pathogenicity

COFS syndrome
Cockayne syndrome
Macular degeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495580

rs_761802751

2 SubmittersRCV000303153 RCV000358062 RCV000394139 RCV000930085

NM_000124.4(ERCC6):c.2397T>C (p.Leu799=)

SNV
Germline

Chr10:49474228

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495649

rs_200079929

2 SubmittersRCV000297552 RCV000337332 RCV000406159 RCV000941084

NM_000124.4(ERCC6):c.2337C>T (p.Phe779=)

SNV
Germline

Chr10:49476260

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495691

rs_114490473

3 SubmittersRCV000265214 RCV000320356 RCV000379370 RCV000871449

NM_000124.4(ERCC6):c.2022T>A (p.Ser674=)

SNV
Germline

Chr10:49482834

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495783

rs_544471829

2 SubmittersRCV000293810 RCV000329682 RCV000388093 RCV001490935

NM_000124.4(ERCC6):c.1992+7C>T

SNV
Germline

Chr10:49483339

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495811

rs_373710355

4 SubmittersRCV000286446 RCV000341501 RCV000407921 RCV000877297

NM_000124.4(ERCC6):c.1158C>T (p.Asp386=)

SNV
Germline

Chr10:49524272

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5496379

rs_141391984

2 SubmittersRCV000308605 RCV000347073 RCV000407268 RCV000928375

NM_000124.4(ERCC6):c.1062T>C (p.Pro354=)

SNV
Germline

Chr10:49524368

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided
Age related macular degeneration 5

Criteria Provided
Conflicting Classifications

CA5496396

rs_764159237

3 SubmittersRCV000276506 RCV000385877 RCV000668822 RCV000905618 RCV000333763

NM_000124.4(ERCC6):c.*2237C>T

SNV
Germline

Chr10:49456578

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2

Criteria Provided
Conflicting Classifications

CA10635388

rs_192242583

1 SubmittersRCV000295151 RCV000352403 RCV000382421

NM_000124.4(ERCC6):c.3594A>G (p.Lys1198=)

SNV
Germline

Chr10:49470366

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495318

rs_374791168

2 SubmittersRCV000260366 RCV000317802 RCV000374778 RCV000979457

NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=)

SNV
Germline

Chr10:49470480

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10635415

rs_886047034

3 SubmittersRCV000307447 RCV000345920 RCV000394239 RCV000667349 RCV003669128

NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu)

SNV
Germline

Chr10:49471056

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
7 conditions
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495457

rs_375181157

4 SubmittersRCV000281519 RCV000338857 RCV002487335 RCV000403327 RCV002520595

NM_000124.4(ERCC6):c.2598+7G>A

SNV
Germline

Chr10:49474020

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495616

rs_769421755

2 SubmittersRCV000271217 RCV000329615 RCV000384197 RCV001460607

NM_000124.4(ERCC6):c.2391C>T (p.Ser797=)

SNV
Germline

Chr10:49474234

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
not specified
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495652

rs_142641602

4 SubmittersRCV000313173 RCV000352304 RCV000732170 RCV000405332 RCV000877017

NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys)

SNV
Germline

Chr10:49474235

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
Condition: not provided
ERCC6-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA5495653

rs_146043988

6 SubmittersRCV000273288 RCV000309721 RCV000367782 RCV001546942 RCV004537691 RCV005625527

NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile)

SNV
Germline

Chr10:49482731

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Condition: not provided
7 conditions

Criteria Provided
Conflicting Classifications

CA5495764

rs_369437807

4 SubmittersRCV000308072 RCV000362821 RCV000395741 RCV002520597 RCV002480092

NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)

SNV
Germline

Chr10:49524272

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
not specified
Cockayne syndrome type 2
Condition: not provided
ERCC6-related disorder

Criteria Provided
Conflicting Classifications

CA5496378

rs_141391984

7 SubmittersRCV000307520 RCV000359960 RCV000731973 RCV000406265 RCV000871745 RCV004537692

NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn)

SNV
Germline

Chr10:49524572

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5496425

rs_143260457

2 SubmittersRCV000288378 RCV000345666 RCV000408050 RCV000983817

NM_000124.4(ERCC6):c.2287-5C>T

SNV
Germline

Chr10:49476315

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495701

rs_772880581

2 SubmittersRCV000311710 RCV000347841 RCV000405537 RCV001400321

NM_000124.4(ERCC6):c.1761G>T (p.Thr587=)

SNV
Germline

Chr10:49493177

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495876

rs_144608959

2 SubmittersRCV000298809 RCV000353565 RCV000405509 RCV000905410

NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met)

SNV
Germline

Chr10:49493178

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495877

rs_767709344

3 SubmittersRCV000277469 RCV000332639 RCV000368604 RCV000944209

NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)

SNV
Germline

Chr10:49524156

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5496358

rs_4253046

6 SubmittersRCV000266947 RCV000324334 RCV000364031 RCV000733377

NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser)

SNV
Germline

Chr10:49524529

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5496417

rs_766256094

4 SubmittersRCV000293985 RCV000346592 RCV000385141 RCV002520598 RCV002520599

NM_000124.4(ERCC6):c.-22G>A

SNV
Germline

Chr10:49538969

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
ERCC6-related disorder

Criteria Provided
Conflicting Classifications

CA10635886

rs_4253006

2 SubmittersRCV000267938 RCV000320674 RCV000359897 RCV004537693

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

SNV
Germline

Chr16:13920270

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910086

rs_762885804

2 SubmittersRCV000285190 RCV002061190

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

SNV
Germline

Chr16:13930757

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10642903

rs_886051659

2 SubmittersRCV000315093 RCV002522811

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

SNV
Germline

Chr16:13932298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910361

rs_199772721

2 SubmittersRCV000260868 RCV002061191

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

SNV
Germline

Chr16:13935216

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910435

rs_3136151

4 SubmittersRCV000321953 RCV000529282 RCV003422265 RCV001820939

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

SNV
Germline

Chr16:13947795

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910701

rs_372425414

2 SubmittersRCV000407678 RCV002522813

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

SNV
Germline

Chr16:13947888

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910719

rs_139406689

5 SubmittersRCV000354867 RCV000863529 RCV001820940 RCV005016696 RCV005621935

NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)

SNV
Germline

Chr5:60918364

Pathogenic

Condition: not provided
Cockayne syndrome type 1
UV-sensitive syndrome 2
Cockayne syndrome type 1
Cockayne syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3277888

rs_143367518

7 SubmittersRCV000726626 RCV002502427 RCV000412151 RCV002509376

NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro)

SNV
Germline

Chr10:49500634

Conflicting classifications of pathogenicity

Cockayne syndrome
Condition: not provided
Cerebrooculofacioskeletal syndrome 1

Criteria Provided
Conflicting Classifications

CA16043449

rs_1057518910

2 SubmittersRCV000415186 RCV001246234 RCV001196299

NM_000082.4(ERCC8):c.173+1119G>C

SNV
Germline

Chr5:60927745

Pathogenic/Likely pathogenic

Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16609478

rs_1043679457

3 SubmittersRCV000449643 RCV001861650

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

SNV
Germline

Chr16:13922064

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910134

rs_55761944

3 SubmittersRCV000473210 RCV002496767 RCV004822054

NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)

SNV
Germline

Chr10:49472377

Pathogenic

Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5495484

rs_772801089

3 SubmittersRCV000502392 RCV001246953

NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)

SNV
Germline

Chr10:49482798

Pathogenic/Likely pathogenic

Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA376724364

rs_751292948

3 SubmittersRCV000500198 RCV002527247

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

SNV
Germline

Chr16:13926643

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910208

rs_3136092

2 SubmittersRCV000499897 RCV002060112

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

SNV
Germline

Chr16:13948023

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910736

rs_2020960

2 SubmittersRCV000503360 RCV000651480

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

SNV
Germline

Chr16:13922051

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910129

rs_61760162

4 SubmittersRCV000560297 RCV001116102 RCV002257838 RCV003900232

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

SNV
Germline

Chr16:13922148

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910153

rs_148791570

5 SubmittersRCV000547965 RCV002257839 RCV001821617 RCV001117537 RCV001569666

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

SNV
Germline

Chr16:13932214

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910342

rs_145851520

2 SubmittersRCV000540520 RCV001292941

NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr)

SNV
Germline

Chr10:49472938

Likely pathogenic

Condition: not provided
Cockayne syndrome type 2
Cockayne syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA376719102

rs_1554875536

3 SubmittersRCV000591568 RCV003313967 RCV005418228

NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)

SNV
Germline

Chr10:49472461

Pathogenic/Likely pathogenic

Condition: not provided
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Cockayne syndrome type 2
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA206586242

rs_906755254

8 SubmittersRCV000592438 RCV000674384 RCV004821283 RCV005044894

NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg)

SNV
Germline

Chr10:49474074

Pathogenic

Cockayne syndrome type 2
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA376721328

rs_368728467

5 SubmittersRCV000625851 RCV001855324 RCV005044908

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

SNV
Germline

Chr16:13937761

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910562

rs_2020952

8 SubmittersRCV000651479 RCV001788310 RCV000989534 RCV002257913 RCV005231238 RCV002531975 RCV003965394

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

SNV
Germline

Chr16:13928157

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910255

rs_780166871

2 SubmittersRCV000651473 RCV004692038

NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn)

SNV
Germline

Chr5:60890918

Conflicting classifications of pathogenicity

Condition: not provided
Cockayne syndrome type 1
UV-sensitive syndrome 2
Cockayne syndrome type 1

Criteria Provided
Conflicting Classifications

CA3277663

rs_141845482

6 SubmittersRCV000658089 RCV001152254 RCV000764612

NM_000082.4(ERCC8):c.1122+1G>A

SNV
Unknown

Chr5:60887439

Likely pathogenic

Cockayne syndrome type 1

No Assertion Criteria Provided

CA359822262

rs_1482664387

1 SubmittersRCV000674649

NM_000082.4(ERCC8):c.843+1G>T

SNV
Germline

Chr5:60898275

Pathogenic

Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA359824812

rs_1305258765

2 SubmittersRCV000674447 RCV001868280

NM_000082.4(ERCC8):c.719-2A>T

SNV
Unknown

Chr5:60898402

Likely pathogenic

Cockayne syndrome type 1

No Assertion Criteria Provided

CA359825148

rs_1554073117

1 SubmittersRCV000665092

NM_000082.4(ERCC8):c.618-1G>A

SNV
Germline

Chr5:60899728

Pathogenic

Cockayne syndrome type 1
Condition: not provided
Cockayne syndrome type 1
UV-sensitive syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA3277757

rs_201464610

5 SubmittersRCV000666033 RCV001281593 RCV005034240

NM_000082.4(ERCC8):c.399+1G>A

SNV
Germline

Chr5:60918264

Likely pathogenic

Cockayne syndrome type 1
Condition: not provided
Cockayne syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3277873

rs_774047625

3 SubmittersRCV000664613 RCV001378262 RCV004800514

NM_000082.4(ERCC8):c.77+2T>G

SNV
Germline

Chr5:60944930

Likely pathogenic

Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA359935292

rs_1554076239

2 SubmittersRCV000668687 RCV002532079

NM_000082.4(ERCC8):c.1042-1G>C

SNV
Unknown

Chr5:60887521

Likely pathogenic

Cockayne syndrome type 1

No Assertion Criteria Provided

CA118840834

rs_897535441

1 SubmittersRCV000666637

NM_000082.4(ERCC8):c.1042-1G>A

SNV
Germline

Chr5:60887521

Pathogenic/Likely pathogenic

Cockayne syndrome type 1

No Assertion Criteria Provided

CA359822676

rs_897535441

2 SubmittersRCV000674160

NM_000082.4(ERCC8):c.719-2A>G

SNV
Unknown

Chr5:60898402

Likely pathogenic

Cockayne syndrome type 1

No Assertion Criteria Provided

CA359825151

rs_1554073117

1 SubmittersRCV000667609

NM_000082.4(ERCC8):c.482-2A>G

SNV
Germline

Chr5:60903718

Likely pathogenic

Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA359827009

rs_1554073420

2 SubmittersRCV000668671 RCV002531205

NM_000082.4(ERCC8):c.276-2A>G

SNV
Germline

Chr5:60918390

Likely pathogenic

Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA359828099

rs_1554074597

2 SubmittersRCV000669777 RCV001868235

NM_000082.4(ERCC8):c.173+1G>A

SNV
Germline

Chr5:60928863

Pathogenic/Likely pathogenic

Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA359828672

rs_1476095782

3 SubmittersRCV000670075 RCV001376989

NM_000082.4(ERCC8):c.1042-2A>G

SNV
Germline

Chr5:60887522

Pathogenic/Likely pathogenic

Cockayne syndrome type 1
UV-sensitive syndrome 2
Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3277639

rs_372237310

3 SubmittersRCV000666696 RCV000763546 RCV001379970

NM_000082.4(ERCC8):c.551-1G>A

SNV
Germline

Chr5:60902509

Pathogenic

Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA359826075

rs_1554073316

3 SubmittersRCV000674856 RCV004702307

NM_000124.4(ERCC6):c.4062+2T>A

SNV
Unknown

Chr10:49460371

Likely pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2

No Assertion Criteria Provided

CA376708002

rs_1554873950

1 SubmittersRCV000672776

NM_000124.4(ERCC6):c.3778+1G>C

SNV
Unknown

Chr10:49470181

Likely pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2

No Assertion Criteria Provided

CA376712248

rs_1554875114

1 SubmittersRCV000671515

NM_000124.4(ERCC6):c.2829+1G>A

SNV
Unknown

Chr10:49472908

Likely pathogenic

Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1

No Assertion Criteria Provided

CA376718887

rs_1554875522

1 SubmittersRCV000669221

NM_000124.4(ERCC6):c.2383-1G>A

SNV
Unknown

Chr10:49474243

Likely pathogenic

Cerebrooculofacioskeletal syndrome 1
DE SANCTIS-CACCHIONE SYNDROME
Cockayne syndrome type 2

No Assertion Criteria Provided

CA376721940

rs_1554787554

1 SubmittersRCV000674266

NM_000124.4(ERCC6):c.1527-2A>G

SNV
Unknown

Chr10:49500698

Likely pathogenic

Cerebrooculofacioskeletal syndrome 1
DE SANCTIS-CACCHIONE SYNDROME
Cockayne syndrome type 2

No Assertion Criteria Provided

CA5495934

rs_768608345

1 SubmittersRCV000674964

NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)

SNV
Germline

Chr10:49524421

Pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided
Cockayne syndrome type 2
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA376753425

rs_1198241866

4 SubmittersRCV000665546 RCV000809201 RCV001449817 RCV005046853

NM_000124.4(ERCC6):c.422+1G>A

SNV
Germline

Chr10:49532542

Likely pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Single Submitter

CA376711856

rs_1198472093

2 SubmittersRCV000665499 RCV001376925

NM_000124.4(ERCC6):c.4063-1G>C

SNV
Germline

Chr10:49459235

Pathogenic/Likely pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5495184

rs_766980240

8 SubmittersRCV000664549 RCV001528150 RCV000994388

NM_000124.4(ERCC6):c.3071-1G>A

SNV
Germline

Chr10:49470890

Pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Single Submitter

CA376717216

rs_1554875287

2 SubmittersRCV000666961 RCV003660823

NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter)

SNV
Unknown

Chr10:49474065

Pathogenic

Cerebrooculofacioskeletal syndrome 1
DE SANCTIS-CACCHIONE SYNDROME
Cockayne syndrome type 2

No Assertion Criteria Provided

CA376721285

rs_1554787509

1 SubmittersRCV000673909

NM_000124.4(ERCC6):c.2169+1G>A

SNV
Germline

Chr10:49482686

Likely pathogenic

Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Condition: not provided
Cockayne syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA376724119

rs_1441655600

3 SubmittersRCV000670497 RCV003767985 RCV005056413

NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)

SNV
Germline

Chr10:49482796

Pathogenic

Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Single Submitter

CA206595753

rs_1026438103

3 SubmittersRCV000667893 RCV001255758 RCV001861762

NM_000124.4(ERCC6):c.544-2A>G

SNV
Unknown

Chr10:49528527

Likely pathogenic

Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1

No Assertion Criteria Provided

CA376709542

rs_1554794073

1 SubmittersRCV000669337

NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)

SNV
Germline

Chr10:49474056

Pathogenic

Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Condition: not provided
ERCC6-related disorder
Cockayne syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA5495625

rs_751448793

5 SubmittersRCV000668815 RCV001057555 RCV004732993 RCV004576963

NM_000124.4(ERCC6):c.2287-2A>G

SNV
Germline

Chr10:49476312

Pathogenic/Likely pathogenic

Cockayne syndrome type 2
Cockayne syndrome
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA5495697

rs_754978734

4 SubmittersRCV001810469 RCV003987654 RCV001855460 RCV002477485

NM_000124.4(ERCC6):c.2286+1G>A

SNV
Germline

Chr10:49478353

Pathogenic/Likely pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA376723376

rs_1362935450

3 SubmittersRCV000665459 RCV001855443 RCV005046852

NM_000124.4(ERCC6):c.1398-2A>G

SNV
Germline

Chr10:49506014

Conflicting classifications of pathogenicity

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA376730331

rs_1317145066

3 SubmittersRCV000670670 RCV001035343 RCV002531257

NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)

SNV
Germline

Chr10:49530737

Pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided
Inborn genetic diseases
Cockayne syndrome type 2
Cockayne syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5496516

rs_771781694

6 SubmittersRCV000666614 RCV001731863 RCV003352980 RCV003338726 RCV004800516

NM_000124.4(ERCC6):c.3984-2A>G

SNV
Germline

Chr10:49460453

Likely pathogenic

Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA376708188

rs_1554873973

2 SubmittersRCV000670109 RCV002531244

NM_000124.4(ERCC6):c.1821+1G>A

SNV
Germline

Chr10:49493116

Likely pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Single Submitter

CA376726387

rs_1228919836

2 SubmittersRCV000671000 RCV001061869

NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly)

SNV
Germline

Chr10:49500628

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
DE SANCTIS-CACCHIONE SYNDROME
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5495923

rs_752712823

3 SubmittersRCV000670772 RCV003558509 RCV004768538

NM_000124.4(ERCC6):c.1397+1G>C

SNV
Germline

Chr10:49524032

Likely pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA376751819

rs_1554793174

3 SubmittersRCV000665527 RCV001266078 RCV003688869

NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter)

SNV
Germline

Chr10:49524295

Pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Single Submitter

CA376752794

rs_1554793270

2 SubmittersRCV000670903 RCV001203195

NM_000124.4(ERCC6):c.422+1G>C

SNV
Germline

Chr10:49532542

Likely pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Single Submitter

CA376711854

rs_1198472093

2 SubmittersRCV000672335 RCV001238124

NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)

SNV
Germline

Chr10:49532904

Pathogenic

DE SANCTIS-CACCHIONE SYNDROME
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided
See cases
ERCC6-related disorder
Cockayne syndrome
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA206585604

rs_577021605

6 SubmittersRCV000666618 RCV001381278 RCV002252204 RCV002221572 RCV004579558 RCV005046862

NM_000082.4(ERCC8):c.78-2A>T

SNV
Somatic

Chr5:60928961

Pathogenic

Cockayne syndrome type 1

No Assertion Criteria Provided

CA359828879

rs_748379243

1 SubmittersRCV000758079

NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg)

SNV
Germline

Chr5:60898350

Pathogenic/Likely pathogenic

Cockayne syndrome type 1
Cockayne syndrome
UV-sensitive syndrome 2
Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3277712

rs_770499406

5 SubmittersRCV000721935 RCV001797788 RCV002477669 RCV002535019

NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter)

SNV
Germline

Chr10:49461393

Pathogenic

Cockayne syndrome type 2

No Assertion Criteria Provided

CA376708280

rs_1564725764

1 SubmittersRCV000735200

NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)

SNV
Germline

Chr5:60904792

Pathogenic/Likely pathogenic

Condition: not provided
Cockayne syndrome type 1
Cockayne syndrome
Cockayne syndrome type 1
UV-sensitive syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA3277844

rs_148393161

8 SubmittersRCV000799937 RCV001542580 RCV003235400 RCV005036161

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

SNV
Germline

Chr16:13935719

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910535

rs_751782722

2 SubmittersRCV000820566 RCV003153866

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

SNV
Germline

Chr16:13947765

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7910691

rs_2020959

4 SubmittersRCV000822020 RCV001194781 RCV005021255

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

SNV
Germline

Chr16:13948019

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910734

rs_746576915

3 SubmittersRCV000812059 RCV003153852 RCV003353046

NM_000124.4(ERCC6):c.-15+3G>T

SNV
Germline

Chr10:49538959

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA915945907

rs_1010201937

1 SubmittersRCV000853311

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

SNV
Germline

Chr16:13926675

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910210

rs_2020961

4 SubmittersRCV000862022 RCV001292967 RCV002536230 RCV005231406

NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro)

SNV
Germline

Chr5:60899690

Conflicting classifications of pathogenicity

Condition: not provided
Cockayne syndrome type 1
Cockayne syndrome type 1
UV-sensitive syndrome 2

Criteria Provided
Conflicting Classifications

CA3277749

rs_150727525

6 SubmittersRCV000871448 RCV001153536 RCV005392487

NM_000124.4(ERCC6):c.2925-8T>A

SNV
Germline

Chr10:49471128

Conflicting classifications of pathogenicity

Condition: not provided
Cockayne syndrome type 2
Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1

Criteria Provided
Conflicting Classifications

CA5495466

rs_147637331

2 SubmittersRCV000902364 RCV001103342 RCV001103341 RCV001108519

NM_000082.4(ERCC8):c.1023A>G (p.Val341=)

SNV
Germline

Chr5:60890907

Conflicting classifications of pathogenicity

Condition: not provided
Cockayne syndrome type 1
not specified

Criteria Provided
Conflicting Classifications

CA3277658

rs_138173863

3 SubmittersRCV000944271 RCV001152253 RCV005436373

NM_000082.4(ERCC8):c.481+1G>C

SNV
Germline

Chr5:60904791

Pathogenic

Cockayne syndrome type 1

Criteria Provided
Single Submitter

CA359827081

rs_1580007152

1 SubmittersRCV000995540

NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter)

SNV
Germline

Chr5:60898317

Pathogenic/Likely pathogenic

Condition: not provided
Cockayne syndrome type 1
UV-sensitive syndrome 2
Cockayne syndrome type 1
Cockayne syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3277709

rs_370657735

4 SubmittersRCV001040625 RCV001542579 RCV002505567 RCV003226423

NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter)

SNV
Germline

Chr10:49482713

Pathogenic

Condition: not provided
Cockayne syndrome
Cockayne syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA5495761

rs_780538788

3 SubmittersRCV001061824 RCV002469337 RCV003339450

NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter)

SNV
Germline

Chr10:49483419

Pathogenic/Likely pathogenic

Condition: not provided
Cockayne syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA376724899

rs_1851015811

2 SubmittersRCV001063173 RCV001264145

NM_000124.4(ERCC6):c.*4090G>A

SNV
Germline

Chr10:49454725

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2

Criteria Provided
Conflicting Classifications

CA206612007

rs_117555054

1 SubmittersRCV001103899 RCV001103900 RCV001107525

NM_000124.4(ERCC6):c.*4019A>G

SNV
Germline

Chr10:49454796

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1

Criteria Provided
Conflicting Classifications

CA206612053

rs_569564278

1 SubmittersRCV001103902 RCV001103901 RCV001103903

NM_000124.4(ERCC6):c.*3280A>G

SNV
Germline

Chr10:49455535

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1

Criteria Provided
Conflicting Classifications

CA206612518

rs_146690522

1 SubmittersRCV001104002 RCV001104000 RCV001104001

NM_000124.4(ERCC6):c.*2766T>G

SNV
Germline

Chr10:49456049

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206612845

rs_141121035

2 SubmittersRCV001104303 RCV001104301 RCV001104302 RCV003413915

NM_000124.4(ERCC6):c.*2729G>A

SNV
Germline

Chr10:49456086

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206612869

rs_535616736

2 SubmittersRCV001107052 RCV001107051 RCV001104304 RCV003413916

NM_000124.4(ERCC6):c.*813C>T

SNV
Germline

Chr10:49458002

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Age related macular degeneration 5

Criteria Provided
Conflicting Classifications

CA206613989

rs_181327678

1 SubmittersRCV001107328 RCV001107327 RCV001107329

NM_000124.4(ERCC6):c.4430A>G (p.His1477Arg)

SNV
Germline

Chr10:49458867

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5495117

rs_114403790

3 SubmittersRCV001104781 RCV001104783 RCV001104782 RCV002558046 RCV004032105

NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly)

SNV
Germline

Chr10:49461443

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Condition: not provided
7 conditions

Criteria Provided
Conflicting Classifications

CA5495241

rs_139188695

3 SubmittersRCV001103052 RCV001103051 RCV001108249 RCV002558031 RCV005049770

NM_000124.4(ERCC6):c.3123A>G (p.Gln1041=)

SNV
Germline

Chr10:49470837

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495405

rs_563142074

2 SubmittersRCV001103248 RCV001105167 RCV001105166 RCV001395466

NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu)

SNV
Germline

Chr10:49478436

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495729

rs_201930958

2 SubmittersRCV001105445 RCV001105446 RCV001105447 RCV002558053

NM_000124.4(ERCC6):c.431C>T (p.Thr144Met)

SNV
Germline

Chr10:49530832

Conflicting classifications of pathogenicity

Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Condition: not provided
ERCC6-related disorder

Criteria Provided
Conflicting Classifications

CA5496532

rs_149382642

3 SubmittersRCV001106964 RCV001106962 RCV001106963 RCV003106118 RCV004733157

NM_000124.4(ERCC6):c.1993-12T>C

SNV
Germline

Chr10:49482875

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495793

rs_751115103

2 SubmittersRCV001103604 RCV001103605 RCV001108765 RCV002558038

NM_000124.4(ERCC6):c.1686-12G>A

SNV
Germline

Chr10:49493264

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Cerebrooculofacioskeletal syndrome 1
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495893

rs_774930802

2 SubmittersRCV001108854 RCV001108855 RCV001108856 RCV002069772

NM_000124.4(ERCC6):c.423-7T>C

SNV
Germline

Chr10:49530847

Conflicting classifications of pathogenicity

Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2
Age related macular degeneration 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1139661431

rs_1837452924

2 SubmittersRCV001106965 RCV001106966 RCV001106967 RCV001479735

NM_000124.4(ERCC6):c.423-9A>C

SNV
Germline

Chr10:49530849

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
Age related macular degeneration 5
Cerebrooculofacioskeletal syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5496533

rs_775274710

2 SubmittersRCV001106968 RCV001107626 RCV001107627 RCV001425763

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

SNV
Germline

Chr16:13935672

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA278472140

rs_374556359

2 SubmittersRCV001119238 RCV002556538

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

SNV
Germline

Chr16:13947774

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA493689735

rs_1255618541

2 SubmittersRCV001121238 RCV001312489

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

SNV
Germline

Chr16:13948110

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910758

rs_200069811

3 SubmittersRCV001116323 RCV003898110 RCV002558148

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

SNV
Germline

Chr16:13930901

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910316

rs_185779788

4 SubmittersRCV001121129 RCV001819831 RCV002069968 RCV003238307

NM_000082.4(ERCC8):c.945C>T (p.Thr315=)

SNV
Germline

Chr5:60890985

Conflicting classifications of pathogenicity

Cockayne syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA444462712

rs_1173045461

2 SubmittersRCV001152255 RCV002559469

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

SNV
Germline

Chr16:13947844

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910710

rs_374978891

2 SubmittersRCV001211525 RCV001644951

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

SNV
Germline

Chr16:13930708

Pathogenic

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

Criteria Provided
Single Submitter

CA394803715

rs_2032155264

1 SubmittersRCV001212995

NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala)

SNV
Germline

Chr5:60898322

Likely pathogenic

Cockayne syndrome type 1

Criteria Provided
Single Submitter

CA359824919

rs_281875225

1 SubmittersRCV001250422

NM_000124.4(ERCC6):c.543+1G>T

SNV
Germline

Chr10:49530719

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376710157

rs_1837448977

1 SubmittersRCV001251189

NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe)

SNV
Germline

Chr5:60922127

Pathogenic

Cockayne syndrome type 1

No Assertion Criteria Provided

CA359828265

rs_1749617646

1 SubmittersRCV001271099

NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter)

SNV
Unknown

Chr5:60890954

Likely pathogenic

Cockayne syndrome type 1

Criteria Provided
Single Submitter

CA359823157

rs_1748527879

1 SubmittersRCV001264150

NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter)

SNV
Unknown

Chr5:60891027

Likely pathogenic

Cockayne syndrome type 1

Criteria Provided
Single Submitter

CA359823468

rs_1748531932

1 SubmittersRCV001264151

NM_000082.4(ERCC8):c.642G>A (p.Trp214Ter)

SNV
Unknown

Chr5:60899703

Likely pathogenic

Cockayne syndrome type 1

Criteria Provided
Single Submitter

CA359825750

rs_1748819276

1 SubmittersRCV001264271

NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter)

SNV
Unknown

Chr5:60918267

Likely pathogenic

Cockayne syndrome type 1

Criteria Provided
Single Submitter

CA359827822

rs_1749495521

1 SubmittersRCV001264272

NM_000082.4(ERCC8):c.300C>A (p.Tyr100Ter)

SNV
Unknown

Chr5:60918364

Likely pathogenic

Cockayne syndrome type 1

Criteria Provided
Single Submitter

CA359828036

rs_143367518

1 SubmittersRCV001264273

NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter)

SNV
Germline

Chr5:60922147

Pathogenic/Likely pathogenic

Cockayne syndrome type 1
Condition: not provided
Cockayne syndrome type 1
UV-sensitive syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA359828306

rs_1749618632

4 SubmittersRCV001264274 RCV001880077 RCV005038020

NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter)

SNV
Unknown

Chr5:60928942

Likely pathogenic

Cockayne syndrome type 1

Criteria Provided
Single Submitter

CA359828842

rs_1749828987

1 SubmittersRCV001264275

NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter)

SNV
Unknown

Chr10:49470203

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376712404

rs_1850747928

1 SubmittersRCV001264262

NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter)

SNV
Germline

Chr10:49470305

Likely pathogenic

Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Single Submitter

CA376713035

rs_1850750513

2 SubmittersRCV001263687 RCV003151297

NM_000124.4(ERCC6):c.3637A>T (p.Arg1213Ter)

SNV
Unknown

Chr10:49470323

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376713159

rs_2228527

1 SubmittersRCV001263688

NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter)

SNV
Unknown

Chr10:49470386

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376713684

rs_1850753467

1 SubmittersRCV001263689

NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter)

SNV
Unknown

Chr10:49470416

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376713931

rs_1850754584

1 SubmittersRCV001263690

NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter)

SNV
Unknown

Chr10:49470495

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376714593

rs_1286402535

1 SubmittersRCV001263691

NM_000124.4(ERCC6):c.3448A>T (p.Lys1150Ter)

SNV
Unknown

Chr10:49470512

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376714741

rs_1850757159

1 SubmittersRCV001263692

NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter)

SNV
Unknown

Chr10:49470605

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376715514

rs_1850759141

1 SubmittersRCV001263693

NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter)

SNV
Unknown

Chr10:49470863

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376717102

rs_1850766086

1 SubmittersRCV001263694

NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter)

SNV
Unknown

Chr10:49470975

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376717272

rs_1850769140

1 SubmittersRCV001263767

NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter)

SNV
Unknown

Chr10:49471038

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376717573

rs_1850770605

1 SubmittersRCV001263768

NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter)

SNV
Unknown

Chr10:49472454

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376718659

rs_1850797541

1 SubmittersRCV001263769

NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter)

SNV
Unknown

Chr10:49472931

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376719054

rs_1283213117

1 SubmittersRCV001263770

NM_000124.4(ERCC6):c.2566C>T (p.Gln856Ter)

SNV
Unknown

Chr10:49474059

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376721268

rs_1850831525

1 SubmittersRCV001263771

NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter)

SNV
Unknown

Chr10:49474082

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376721355

rs_1850832063

1 SubmittersRCV001263772

NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter)

SNV
Unknown

Chr10:49474121

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376721499

rs_1850832795

1 SubmittersRCV001263773

NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter)

SNV
Unknown

Chr10:49476217

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376722281

rs_1850874595

1 SubmittersRCV001263774

NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter)

SNV
Unknown

Chr10:49478439

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376723774

rs_1850916835

1 SubmittersRCV001264144

NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter)

SNV
Unknown

Chr10:49493122

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376726399

rs_961060711

1 SubmittersRCV001264146

NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter)

SNV
Unknown

Chr10:49493161

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376726478

rs_768188064

1 SubmittersRCV001264147

NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter)

SNV
Unknown

Chr10:49505894

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376729686

rs_1851434105

1 SubmittersRCV001264148

NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter)

SNV
Germline

Chr10:49528495

Pathogenic/Likely pathogenic

Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA376709370

rs_1837393519

2 SubmittersRCV001264149 RCV001880074

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

SNV
Germline

Chr16:13935323

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910457

rs_780488548

3 SubmittersRCV003153976 RCV005014361 RCV001300359

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

SNV
Germline

Chr16:13935734

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910540

rs_138532294

6 SubmittersRCV001294384 RCV002258183 RCV005051884 RCV001819982 RCV005601734 RCV005550237

NM_000082.4(ERCC8):c.275+1G>T

SNV
Germline

Chr5:60922053

Conflicting classifications of pathogenicity

Condition: not provided
Abnormality of the nervous system
Cockayne syndrome type 1

Criteria Provided
Conflicting Classifications

CA359828103

rs_2112522829

3 SubmittersRCV001377498 RCV001814312 RCV004546644

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

SNV
Germline

Chr16:13932286

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394806012

rs_1314323456

2 SubmittersRCV001377820 RCV003226467

NM_000082.4(ERCC8):c.1041+1G>T

SNV
Germline

Chr5:60890888

Pathogenic/Likely pathogenic

Condition: not provided
Cockayne syndrome type 1
UV-sensitive syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA359823000

rs_1290416270

2 SubmittersRCV001388975 RCV005038206

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

SNV
Germline

Chr16:13920187

Pathogenic

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

Criteria Provided
Single Submitter

CA394815859

rs_774510191

1 SubmittersRCV001389442

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

SNV
Germline

Chr16:13926709

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910215

rs_373408411

3 SubmittersRCV001437611 RCV001820131 RCV002258256

NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu)

SNV
Germline

Chr10:49478428

Conflicting classifications of pathogenicity

Cockayne syndrome type 2
7 conditions
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495725

rs_373277796

4 SubmittersRCV001808287 RCV002482341 RCV003163947 RCV002541471

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

SNV
Germline

Chr16:13926748

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA493424896

rs_2141944936

2 SubmittersRCV001820410 RCV002074332

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

SNV
Germline

Chr16:13926751

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7910224

rs_753325454

3 SubmittersRCV001817844 RCV001869789 RCV004782796

NM_000082.4(ERCC8):c.174C>A (p.Tyr58Ter)

SNV
Germline

Chr5:60922155

Pathogenic/Likely pathogenic

ERCC8-related disorder
Cockayne syndrome type 1
UV-sensitive syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3277921

rs_530679736

3 SubmittersRCV003394304 RCV005038394 RCV001905194

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

SNV
Germline

Chr16:13935183

Pathogenic

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

Criteria Provided
Single Submitter

CA7910429

rs_762738968

1 SubmittersRCV001919468

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

SNV
Germline

Chr16:13920223

Pathogenic

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

Criteria Provided
Single Submitter

CA394816007

rs_1355878901

1 SubmittersRCV002037756

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

SNV
Germline

Chr16:13947832

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394822651

rs_756050702

2 SubmittersRCV002034990 RCV005552438

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

SNV
Germline

Chr16:13944834

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910637

rs_775414253

2 SubmittersRCV002015265 RCV005242145

NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter)

SNV
Germline

Chr10:49524580

Pathogenic

Cockayne syndrome type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA376754391

rs_2132621608

2 SubmittersRCV002237201 RCV003120845

NM_000082.4(ERCC8):c.523T>C (p.Ser175Pro)

SNV
Germline

Chr5:60903675

Likely pathogenic

Cockayne syndrome type 1

Criteria Provided
Single Submitter

CA359826782

rs_2531798461

1 SubmittersRCV002284299

NM_000124.4(ERCC6):c.3322G>T (p.Gly1108Ter)

SNV
Unknown

Chr10:49470638

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376715712

rs_143502251

1 SubmittersRCV002306575

NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter)

SNV
Unknown

Chr10:49493219

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376726611

rs_2496033437

1 SubmittersRCV002306781

NM_000124.4(ERCC6):c.1926T>A (p.Tyr642Ter)

SNV
Unknown

Chr10:49483412

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376724857

rs_2496008991

1 SubmittersRCV002309583

NM_000082.4(ERCC8):c.559C>T (p.Gln187Ter)

SNV
Unknown

Chr5:60902500

Likely pathogenic

Cockayne syndrome type 1

Criteria Provided
Single Submitter

CA359826041

rs_2531795554

1 SubmittersRCV002309610

NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter)

SNV
Unknown

Chr10:49528450

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376709157

rs_746159424

1 SubmittersRCV002310046

NM_000124.4(ERCC6):c.1342A>T (p.Lys448Ter)

SNV
Unknown

Chr10:49524088

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376752009

rs_2496137655

1 SubmittersRCV002308028

NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter)

SNV
Unknown

Chr10:49524655

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376754901

rs_2496141694

1 SubmittersRCV002308235

NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter)

SNV
Unknown

Chr10:49530800

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376710570

rs_755905226

1 SubmittersRCV002308255

NM_000124.4(ERCC6):c.1213A>T (p.Lys405Ter)

SNV
Unknown

Chr10:49524217

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376752437

rs_2496138678

1 SubmittersRCV002309394

NM_000124.4(ERCC6):c.454A>T (p.Lys152Ter)

SNV
Unknown

Chr10:49530809

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376710609

rs_2496167334

1 SubmittersRCV002309474

NM_000124.4(ERCC6):c.1914T>A (p.Tyr638Ter)

SNV
Unknown

Chr10:49483424

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376724923

rs_754025384

1 SubmittersRCV002307349

NM_000124.4(ERCC6):c.1174G>T (p.Glu392Ter)

SNV
Unknown

Chr10:49524256

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376752604

rs_1226553506

1 SubmittersRCV002310215

NM_000124.4(ERCC6):c.2035C>T (p.Gln679Ter)

SNV
Unknown

Chr10:49482821

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376724412

rs_2496007406

1 SubmittersRCV002310315

NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)

SNV
Unknown

Chr10:49472942

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376719135

rs_2495980573

1 SubmittersRCV002310323

NM_000124.4(ERCC6):c.3682A>T (p.Lys1228Ter)

SNV
Unknown

Chr10:49470278

Likely pathogenic

Cockayne syndrome type 2

Criteria Provided
Single Submitter

CA376712892

rs_2495970774

1 SubmittersRCV002310431

NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter)

SNV
Germline

Chr10:49470701

Pathogenic/Likely pathogenic

Condition: not provided
Cockayne syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA5495380

rs_144445150

3 SubmittersRCV002462394 RCV003227073

NM_000124.4(ERCC6):c.1939G>A (p.Glu647Lys)

SNV
Germline

Chr10:49483399

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
not specified
Cockayne syndrome type 2

Criteria Provided
Conflicting Classifications

CA376724803

rs_1163269726

5 SubmittersRCV002571566 RCV002508691 RCV004700771 RCV004796737

NM_000124.4(ERCC6):c.1685+5G>A

SNV
Germline

Chr10:49500533

Conflicting classifications of pathogenicity

Condition: not provided
Cockayne syndrome type 2

Criteria Provided
Conflicting Classifications

CA593368309

rs_1349103905

2 SubmittersRCV003072456 RCV004594668

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

SNV
Germline

Chr16:13930789

Pathogenic

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

Criteria Provided
Single Submitter

CA278466697

rs_900093826

1 SubmittersRCV002595685

NM_000124.4(ERCC6):c.2054T>C (p.Leu685Pro)

SNV
Germline

Chr10:49482802

Conflicting classifications of pathogenicity

Condition: not provided
Cockayne syndrome type 2

Criteria Provided
Conflicting Classifications

CA376724372

rs_1275257135

2 SubmittersRCV002736135 RCV004765558

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

SNV
Germline

Chr16:13920265

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394816150

rs_61731714

2 SubmittersRCV003154735 RCV003778920

NM_000082.4(ERCC8):c.275+1G>A

SNV
Germline

Chr5:60922053

Pathogenic

Cockayne syndrome

Criteria Provided
Single Submitter

CA359828105

rs_2112522829

1 SubmittersRCV003493354

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

SNV
Germline

Chr16:13920313

Pathogenic

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

Criteria Provided
Single Submitter

CA394816321

rs_2543161364

1 SubmittersRCV003797867

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

SNV
Germline

Chr16:13930773

Pathogenic

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

Criteria Provided
Single Submitter

CA7910293

rs_750971687

1 SubmittersRCV003781269

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

SNV
Germline

Chr16:13935308

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7910452

rs_201179693

3 SubmittersRCV003781677 RCV005242434 RCV005014966

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

SNV
Germline

Chr16:13937856

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7910587

rs_749634352

2 SubmittersRCV003788402 RCV004784178

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

SNV
Germline

Chr16:13930803

Pathogenic

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

Criteria Provided
Single Submitter

CA7910296

rs_753149023

1 SubmittersRCV003792676

NM_000082.4(ERCC8):c.547C>T (p.Gln183Ter)

SNV
Germline

Chr5:60903651

Pathogenic/Likely pathogenic

Condition: not provided
UV-sensitive syndrome 2
Cockayne syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA359826663

rs_1748966825

2 SubmittersRCV003859854 RCV005040578

NM_000082.4(ERCC8):c.550+2T>C

SNV
Unknown

Chr5:60903646

Likely pathogenic

Cockayne syndrome type 1

Criteria Provided
Single Submitter

rs_2531798342

1 SubmittersRCV004566559

NM_001277058.2(ERCC6):c.3091C>T (p.Arg1031Ter)

SNV
Germline

Chr10:49515428

Likely pathogenic

Cockayne syndrome type 2
ERCC6-related disorder

Criteria Provided
Single Submitter

rs_747903426

2 SubmittersRCV004576130 RCV004723610

NM_000082.4(ERCC8):c.1041G>A (p.Gln347=)

SNV
Germline

Chr5:60890889

Pathogenic

Cockayne syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005055408

NM_000082.4(ERCC8):c.176T>C (p.Met59Thr)

SNV
Germline

Chr5:60922153

Pathogenic/Likely pathogenic

Cockayne syndrome
UV-sensitive syndrome 2
Cockayne syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004701204 RCV005038792

NM_000082.4(ERCC8):c.968C>G (p.Ser323Ter)

SNV
Germline

Chr5:60890962

Likely pathogenic

Cockayne syndrome type 1
UV-sensitive syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005037639

NM_000082.4(ERCC8):c.718+2T>C

SNV
Germline

Chr5:60899625

Likely pathogenic

Cockayne syndrome type 1
UV-sensitive syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005037640

NM_000082.4(ERCC8):c.482-1G>T

SNV
Germline

Chr5:60903717

Likely pathogenic

Cockayne syndrome type 1
UV-sensitive syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005037642

NM_000082.4(ERCC8):c.68C>G (p.Ser23Ter)

SNV
Germline

Chr5:60944941

Likely pathogenic

Cockayne syndrome type 1
UV-sensitive syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005037644

NM_000082.4(ERCC8):c.2T>G (p.Met1Arg)

SNV
Germline

Chr5:60945007

Pathogenic

Cockayne syndrome type 1
UV-sensitive syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005037646

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

SNV
Germline

Chr16:13928236

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005215661

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

SNV
Germline

Chr16:13930808

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005210613

NM_001277058.2(ERCC6):c.1887C>G (p.Tyr629Ter)

SNV
Germline

Chr10:49516632

Likely pathogenic

Cerebrooculofacioskeletal syndrome 1
Cockayne syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005360450

NM_000124.4(ERCC6):c.3125C>T (p.Pro1042Leu)

SNV
Germline

Chr10:49470835

Likely pathogenic

Cockayne syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005407540