Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)	SNV Germline	Chr12:123754537	Pathogenic	Cutis laxa with osteodystrophy	No Assertion Criteria Provided	CA339834	rs_80356758	2 SubmittersRCV000000887
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)	SNV Germline	Chr12:123718692	Pathogenic	Cutis laxa with osteodystrophy Condition: not provided Alpha-1-antitrypsin deficiency ALG9 congenital disorder of glycosylation Cutis laxa	Criteria Provided Multiple Submitters No Conflicts	CA223052	rs_80356750	5 SubmittersRCV000000888 RCV000790836 RCV004526587 RCV003502506 RCV004579513
NM_001042545.2(LTBP4):c.2481C>A (p.Cys827Ter)	SNV Germline	Chr19:40613453	Pathogenic	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	No Assertion Criteria Provided	CA117505	rs_267607228	1 SubmittersRCV000005728
NM_001042545.2(LTBP4):c.730T>G (p.Cys244Gly)	SNV Germline	Chr19:40605768	Pathogenic	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	No Assertion Criteria Provided	CA117509	rs_267607229	1 SubmittersRCV000005729
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys)	SNV Germline	Chr11:65871355	Pathogenic	Cutis laxa, autosomal recessive, type 1B Cutis laxa, autosomal recessive, type 1A	No Assertion Criteria Provided	CA281558	rs_119489101	2 SubmittersRCV000005756 RCV000032268
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)	SNV Germline	Chr11:65868522	Likely pathogenic	Cutis laxa, autosomal recessive, type 1B Cutis laxa, autosomal recessive, type 1A	Criteria Provided Multiple Submitters No Conflicts	CA281559	rs_119489102	4 SubmittersRCV000005757 RCV000032275
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro)	SNV Germline	Chr14:91887253	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1A Cutis laxa, autosomal dominant	No Assertion Criteria Provided	CA340430	rs_28939370	3 SubmittersRCV000005809 RCV003447068
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)	SNV Germline	Chr16:16163078	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Condition: not provided Cutis laxa Papule Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Arterial calcification, generalized, of infancy, 2 See cases ABCC6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA129115	rs_72653706	24 SubmittersRCV000006937 RCV000023272 RCV000254838 RCV000415101 RCV000762959 RCV002251886 RCV002291267
NM_000052.7(ATP7A):c.2497A>G (p.Ser833Gly)	SNV Germline	ChrX:78014752	Conflicting classifications of pathogenicity	Cutis laxa, X-linked	No Assertion Criteria Provided		rs_2149096859	2 SubmittersRCV000012548
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu)	SNV Germline	ChrX:78011216	Pathogenic	Cutis laxa, X-linked Menkes kinky-hair syndrome	Criteria Provided Single Submitter	CA256065	rs_151340631	3 SubmittersRCV000012549 RCV000195239
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)	SNV Germline	ChrX:78029271	Pathogenic	Menkes kinky-hair syndrome Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Multiple Submitters No Conflicts	CA256067	rs_72554649	4 SubmittersRCV000012551 RCV001851805
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)	SNV Germline	ChrX:78042694	Pathogenic	Cutis laxa, X-linked Menkes kinky-hair syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256071	rs_151340632	4 SubmittersRCV000012559 RCV000194377 RCV003238723
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)	SNV Germline	ChrX:77988722	Pathogenic	Menkes kinky-hair syndrome Condition: not provided Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Multiple Submitters No Conflicts	CA256073	rs_151340633	6 SubmittersRCV000012560 RCV000725792 RCV001231166
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)	SNV Germline	ChrX:78045502	Pathogenic	X-linked distal spinal muscular atrophy type 3 Charcot-Marie-Tooth disease Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome	Criteria Provided Single Submitter	CA256077	rs_267606672	4 SubmittersRCV000012562 RCV000789728 RCV001206423 RCV001696176
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)	SNV Germline	Chr17:81934326	Pathogenic	Autosomal recessive cutis laxa type 2B Cutis laxa Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA122950	rs_121918374	7 SubmittersRCV000014078 RCV000779237 RCV000489299 RCV000624605
NM_006907.4(PYCR1):c.616G>T (p.Gly206Trp)	SNV Germline	Chr17:81934670	Pathogenic	Autosomal recessive cutis laxa type 2B	No Assertion Criteria Provided	CA122952	rs_121918375	1 SubmittersRCV000014079
NM_006907.4(PYCR1):c.355C>G (p.Arg119Gly)	SNV Germline	Chr17:81935111	Pathogenic	Autosomal recessive cutis laxa type 2B	No Assertion Criteria Provided	CA122954	rs_121918376	1 SubmittersRCV000014083
NM_006907.4(PYCR1):c.356G>A (p.Arg119His)	SNV Germline	Chr17:81935110	Pathogenic/Likely pathogenic	Autosomal recessive cutis laxa type 2B PYCR1-related de Barsy syndrome Condition: not provided Wiedemann-Rautenstrauch-like progeroid syndrome	Criteria Provided Multiple Submitters No Conflicts	CA122956	rs_121918377	6 SubmittersRCV000014084 RCV000761519 RCV001543486 RCV001291133
NM_006907.4(PYCR1):c.752G>A (p.Arg251His)	SNV Germline	Chr17:81934371	Pathogenic/Likely pathogenic	PYCR1-related de Barsy syndrome Condition: not provided Inborn genetic diseases Cutis laxa	Criteria Provided Multiple Submitters No Conflicts	CA122958	rs_121918378	5 SubmittersRCV000014085 RCV001582480 RCV002513035 RCV003114191
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)	SNV Germline	Chr14:91877501	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1A Cutis laxa, autosomal dominant	No Assertion Criteria Provided	CA342095	rs_80338767	3 SubmittersRCV000020639 RCV003447087
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)	SNV Germline	Chr14:91891236	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1A Macular degeneration, age-related, 3 Condition: not provided Cutis laxa Cutis laxa, autosomal dominant	Criteria Provided Conflicting Classifications	CA342101	rs_80338765	6 SubmittersRCV000020641 RCV000316304 RCV000427840 RCV000375520 RCV003447088
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg)	SNV Germline	Chr14:91887283	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1A Cutis laxa, autosomal dominant	No Assertion Criteria Provided	CA342104	rs_80338766	3 SubmittersRCV000020642 RCV003447089
NM_012463.4(ATP6V0A2):c.294+1G>A	SNV Germline	Chr12:123722449	Pathogenic	Wrinkly skin syndrome Cutis laxa with osteodystrophy	No Assertion Criteria Provided	CA342137	rs_80356751	3 SubmittersRCV000000889 RCV000020688
NM_012463.4(ATP6V0A2):c.732-2A>G	SNV Germline	Chr12:123735529	Pathogenic	Cutis laxa with osteodystrophy Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA342139	rs_80356753	3 SubmittersRCV000020690 RCV002281042 RCV003502507
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr)	SNV Germline	Chr11:65867061	Pathogenic	Cutis laxa, autosomal recessive, type 1A Cutis laxa, autosomal recessive, type 1B	No Assertion Criteria Provided	CA281918	rs_193302868	2 SubmittersRCV000032266 RCV000033128
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)	SNV Germline	Chr11:65870650	Pathogenic/Likely pathogenic	Cutis laxa, autosomal recessive, type 1A Cutis laxa, autosomal recessive, type 1B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA281914	rs_193302867	8 SubmittersRCV000032269 RCV000033125 RCV000724423
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val)	SNV Germline	Chr11:65870649	Pathogenic	Cutis laxa, autosomal recessive, type 1A Cutis laxa, autosomal recessive, type 1B	No Assertion Criteria Provided	CA281916	rs_193302869	2 SubmittersRCV000032270 RCV000033126
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)	SNV Germline	Chr11:65869976	Pathogenic/Likely pathogenic	Cutis laxa, autosomal recessive, type 1A Cutis laxa, autosomal recessive, type 1B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA282144	rs_193302864	5 SubmittersRCV000032272 RCV000034873 RCV003332092
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)	SNV Germline	Chr11:65868557	Pathogenic	Cutis laxa, autosomal recessive, type 1B Cutis laxa, autosomal recessive, type 1A	No Assertion Criteria Provided	CA281758	rs_193302866	2 SubmittersRCV000023384 RCV000032274
NM_001042545.2(LTBP4):c.1252C>T (p.Arg418Ter)	SNV Germline	Chr19:40608315	Pathogenic	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	No Assertion Criteria Provided	CA130695	rs_397515430	1 SubmittersRCV000033129
NM_001042545.2(LTBP4):c.4039C>T (p.Arg1347Ter)	SNV Germline	Chr19:40627028	Pathogenic	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	No Assertion Criteria Provided		rs_1382026467	1 SubmittersRCV000033131
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys)	SNV Germline	Chr11:65869905	Pathogenic	Cutis laxa, autosomal recessive, type 1B	Criteria Provided Single Submitter	CA282146	rs_397514683	2 SubmittersRCV000034874
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg)	SNV Germline	Chr17:81934670	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive cutis laxa type 2B Abnormality of connective tissue	Criteria Provided Multiple Submitters No Conflicts	CA219960	rs_121918375	5 SubmittersRCV000059738 RCV004017383 RCV001814045
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=)	SNV Germline	Chr12:123727864	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_181112338	2 SubmittersRCV001114577 RCV002054920
NM_012463.4(ATP6V0A2):c.1514+1G>A	SNV Germline	Chr12:123744785	Pathogenic/Likely pathogenic	Condition: not provided Wrinkly skin syndrome Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA223051	rs_374480381	4 SubmittersRCV000174367 RCV002498429 RCV003502514
NM_000501.4(ELN):c.1150+1G>A	SNV Germline	Chr7:74054770	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Condition: not provided Hypertelorism Dural ectasia Venous malformation Abnormal digit morphology Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis not specified	Criteria Provided Conflicting Classifications	CA281474	rs_727503030	9 SubmittersRCV000150639 RCV000200273 RCV000626794 RCV000660643 RCV002247549
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)	SNV Germline	Chr12:123744756	Conflicting classifications of pathogenicity	not specified Cutis laxa with osteodystrophy Condition: not provided ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208571	rs_143142641	10 SubmittersRCV000194414 RCV000322153 RCV000723907 RCV001088927 RCV003895048 RCV003338429
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)	SNV Germline	Chr12:123754473	Conflicting classifications of pathogenicity	Cutis laxa, recessive Condition: not provided ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications	CA241054	rs_150508296	7 SubmittersRCV000364298 RCV000724863 RCV001087624 RCV003907567
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)	SNV Germline	ChrX:78011572	Conflicting classifications of pathogenicity	not specified History of neurodevelopmental disorder Condition: not provided Menkes kinky-hair syndrome Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3	Criteria Provided Conflicting Classifications	CA207130	rs_146692150	6 SubmittersRCV000193566 RCV000721073 RCV000724715 RCV001274233 RCV001086885
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)	SNV Germline	Chr12:123754482	Conflicting classifications of pathogenicity	not specified Condition: not provided Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications	CA209642	rs_138886791	8 SubmittersRCV000195070 RCV000871111 RCV001109061 RCV001088570 RCV003917736
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)	SNV Germline	ChrX:77989847	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications	CA277324	rs_72554636	4 SubmittersRCV000194461 RCV001857688
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)	SNV Germline	ChrX:77998657	Conflicting classifications of pathogenicity	not specified Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome Condition: not provided Ehlers-Danlos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA206236	rs_143907597	9 SubmittersRCV000193020 RCV000534012 RCV001274230 RCV001573423 RCV002277449 RCV002314787
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)	SNV Germline	ChrX:78003168	Pathogenic	Menkes kinky-hair syndrome Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Multiple Submitters No Conflicts	CA277370	rs_797045332	5 SubmittersRCV000194736 RCV000807620
NM_000052.7(ATP7A):c.1870-1G>C	SNV Germline	ChrX:78011175	Pathogenic	Menkes kinky-hair syndrome Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Multiple Submitters No Conflicts	CA277439	rs_797045338	3 SubmittersRCV000195126 RCV003765212
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)	SNV Germline	ChrX:78011180	Pathogenic	Menkes kinky-hair syndrome Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Multiple Submitters No Conflicts	CA277093	rs_797045339	3 SubmittersRCV000193177 RCV002517056
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)	SNV Germline	ChrX:78011239	Pathogenic	Menkes kinky-hair syndrome Condition: not provided Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Multiple Submitters No Conflicts	CA277101	rs_72554640	7 SubmittersRCV000193235 RCV000757017 RCV001271473
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)	SNV Germline	ChrX:78011498	Pathogenic	Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Multiple Submitters No Conflicts	CA277408	rs_797045344	4 SubmittersRCV000194915 RCV001330731
NM_000052.7(ATP7A):c.2172+5G>C	SNV Germline	ChrX:78011679	Pathogenic/Likely pathogenic	Menkes kinky-hair syndrome Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Multiple Submitters No Conflicts	CA277221	rs_797045347	3 SubmittersRCV000193917 RCV001044291
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)	SNV Germline	ChrX:78012885	Pathogenic	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277238	rs_72554644	5 SubmittersRCV000193991 RCV001857689 RCV002517916 RCV003227709
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)	SNV Germline	ChrX:78013089	Pathogenic	Menkes kinky-hair syndrome Condition: not provided Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Multiple Submitters No Conflicts	CA277113	rs_72554645	6 SubmittersRCV000193280 RCV000578755 RCV001274025
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)	SNV Germline	ChrX:78021066	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome not specified Condition: not provided Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Ehlers-Danlos syndrome ATP7A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA277041	rs_138958687	11 SubmittersRCV000192884 RCV000999938 RCV000757015 RCV001085085 RCV002277450 RCV003907676 RCV002433862
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)	SNV Germline	ChrX:78029289	Pathogenic	Menkes kinky-hair syndrome Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277137	rs_72554650	5 SubmittersRCV000193405 RCV002517917 RCV003231369
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)	SNV Germline	ChrX:78029335	Likely pathogenic	Menkes kinky-hair syndrome Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Multiple Submitters No Conflicts	CA277255	rs_797045365	3 SubmittersRCV000194077 RCV000543168
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)	SNV Germline	ChrX:78042714	Conflicting classifications of pathogenicity	not specified Condition: not provided Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Ehlers-Danlos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208759	rs_139781067	6 SubmittersRCV000194531 RCV000527923 RCV001081638 RCV002277451 RCV002372162
NM_000052.7(ATP7A):c.4005+1G>T	SNV Germline	ChrX:78042789	Pathogenic/Likely pathogenic	Menkes kinky-hair syndrome Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Multiple Submitters No Conflicts	CA277169	rs_797045391	3 SubmittersRCV000193560 RCV001852548
NM_000501.4(ELN):c.326G>A (p.Gly109Asp)	SNV Germline	Chr7:74042984	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA320313	rs_145519139	3 SubmittersRCV000462325 RCV000272510 RCV001531043
NM_000501.4(ELN):c.647G>T (p.Gly216Val)	SNV Germline	Chr7:74047678	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Condition: not provided Cutis laxa, autosomal dominant 1 Williams syndrome Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1	Criteria Provided Conflicting Classifications	CA324493	rs_145612009	6 SubmittersRCV000531891 RCV000728083 RCV000765972 RCV001161674
NM_000501.4(ELN):c.659C>T (p.Pro220Leu)	SNV Germline	Chr7:74047690	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA322484	rs_201012726	4 SubmittersRCV000198008 RCV000279620 RCV000334634
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)	SNV Germline	Chr7:74065699	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Condition: not provided ELN-related disorder	Criteria Provided Conflicting Classifications	CA321710	rs_142316834	8 SubmittersRCV000351619 RCV000405378 RCV001579602 RCV004530153
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)	SNV Germline	Chr10:95606856	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome Abnormality of the nervous system Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9 de Barsy syndrome	Criteria Provided Conflicting Classifications	CA210009	rs_537043237	4 SubmittersRCV000196978 RCV001814103 RCV003765290
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His)	SNV Germline	Chr10:95610260	Likely pathogenic	Autosomal recessive complex spastic paraplegia type 9B Cutis laxa, autosomal dominant 3 Cutis laxa, autosomal dominant 3 de Barsy syndrome Autosomal dominant spastic paraplegia type 9	Criteria Provided Multiple Submitters No Conflicts	CA280922	rs_752669339	3 SubmittersRCV000200955 RCV001198042 RCV003765291
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)	SNV Germline	Chr10:95633012	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 9A Condition: not provided ALDH18A1 deficiency Cutis laxa, autosomal dominant 3 de Barsy syndrome Autosomal dominant spastic paraplegia type 9	Criteria Provided Multiple Submitters No Conflicts	CA347466	rs_864321670	7 SubmittersRCV000200959 RCV000761744 RCV001095737 RCV003765292
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)	SNV Germline	Chr10:95637381	Pathogenic	Hereditary spastic paraplegia 9A Cutis laxa, autosomal dominant 3 de Barsy syndrome Autosomal dominant spastic paraplegia type 9	Criteria Provided Single Submitter	CA279055	rs_863224945	2 SubmittersRCV000200954 RCV003765293
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His)	SNV Germline	Chr10:95637357	Conflicting classifications of pathogenicity	Autosomal recessive complex spastic paraplegia type 9B Condition: not provided Cutis laxa, autosomal dominant 3 de Barsy syndrome Autosomal dominant spastic paraplegia type 9	Criteria Provided Conflicting Classifications	CA215054	rs_768323248	3 SubmittersRCV000200953 RCV000484074 RCV003765294
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)	SNV Germline	Chr10:95637328	Pathogenic	Cutis laxa, autosomal dominant 3 Condition: not provided Hereditary spastic paraplegia 9A Autosomal recessive complex spastic paraplegia type 9B Cutis laxa, autosomal dominant 3 ALDH18A1-related de Barsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279130	rs_863225044	5 SubmittersRCV000201215 RCV000481980 RCV003883142
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)	SNV Germline	Chr10:95637327	Pathogenic	Cutis laxa, autosomal dominant 3 Condition: not provided Cutis laxa, autosomal dominant 3 de Barsy syndrome Autosomal dominant spastic paraplegia type 9 ALDH18A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA279126	rs_863225045	4 SubmittersRCV000201213 RCV003236787 RCV003765295 RCV004530202
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu)	SNV Germline	Chr10:95637327	Pathogenic	Cutis laxa, autosomal dominant 3 ALDH18A1-related de Barsy syndrome	Criteria Provided Single Submitter	CA279128	rs_863225045	2 SubmittersRCV000201214 RCV000856780
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)	SNV Germline	Chr14:91937058	Conflicting classifications of pathogenicity	Macular degeneration, age-related, 3 Condition: not provided Cutis laxa Cutis laxa, autosomal recessive, type 1A Cutis laxa, autosomal dominant 2 Charcot-Marie-Tooth disease, demyelinating, IIA 1H Hereditary sensorimotor neuropathy with hyperelastic skin	Criteria Provided Conflicting Classifications	CA213355	rs_144288844	8 SubmittersRCV000202614 RCV000521928 RCV001121879 RCV001249315 RCV001843303 RCV003447125
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)	SNV Germline	Chr14:91936950	Conflicting classifications of pathogenicity	Macular degeneration, age-related, 3 Cutis laxa Condition: not provided Charcot-Marie-Tooth disease, demyelinating, IIA 1H FBLN5-related disorder	Criteria Provided Conflicting Classifications	CA213354	rs_61734479	8 SubmittersRCV000202603 RCV000405354 RCV000584853 RCV001843304 RCV003917823
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu)	SNV Germline	ChrX:78011495	Conflicting classifications of pathogenicity	Condition: not provided X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications	CA10584646	rs_879254156	2 SubmittersRCV000237067 RCV002518449
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)	SNV Germline	ChrX:78015786	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Menkes kinky-hair syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10459291	rs_367775730	6 SubmittersRCV000529093 RCV001085537 RCV003311726 RCV002450718
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)	SNV Germline	ChrX:78038889	Conflicting classifications of pathogenicity	not specified X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Ehlers-Danlos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10459435	rs_368917354	4 SubmittersRCV000236093 RCV000878391 RCV002277594 RCV002450722
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)	SNV Germline	ChrX:78043377	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Ehlers-Danlos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10459496	rs_370736173	8 SubmittersRCV000235848 RCV000784893 RCV001084874 RCV002277595 RCV002321900
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln)	SNV Germline	ChrX:78046431	Conflicting classifications of pathogenicity	not specified X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications	CA10459548	rs_147848649	2 SubmittersRCV000236986 RCV000877920
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp)	SNV Germline	Chr17:81935132	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive cutis laxa type 2B PYCR1-related de Barsy syndrome Cutis laxa	Criteria Provided Conflicting Classifications	CA8845466	rs_147653673	6 SubmittersRCV000512801 RCV000764150 RCV001125517
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg)	SNV Germline	ChrX:78009115	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Conflicting Classifications	CA10459092	rs_782076879	2 SubmittersRCV000385771 RCV001859571
NM_000501.4(ELN):c.470-10C>G	SNV Germline	Chr7:74045212	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4292514	rs_200663056	4 SubmittersRCV000338429 RCV000408115 RCV000725265
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)	SNV Germline	ChrX:78011457	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10459180	rs_143214563	6 SubmittersRCV000725407 RCV001085214 RCV002314011
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)	SNV Germline	ChrX:78043317	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10459493	rs_146651049	6 SubmittersRCV000725408 RCV001080192 RCV002314012
NM_012463.4(ATP6V0A2):c.522-9G>A	SNV Germline	Chr12:123727774	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications	CA6861659	rs_189175284	4 SubmittersRCV000277913 RCV000399420 RCV002059154 RCV003920076
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=)	SNV Germline	ChrX:78009128	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications	CA10459097	rs_72554638	3 SubmittersRCV000368289 RCV001078732 RCV001833356
NM_006329.4(FBLN5):c.621T>C (p.Asp207=)	SNV Germline	Chr14:91887311	Conflicting classifications of pathogenicity	Cutis laxa Macular degeneration, age-related, 3 Condition: not provided FBLN5-related disorder	Criteria Provided Conflicting Classifications	CA7312778	rs_200178859	5 SubmittersRCV000264837 RCV000324728 RCV000390841 RCV003909996
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)	SNV Germline	Chr7:74042986	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided Familial atrioventricular septal defect ELN-related disorder	Criteria Provided Conflicting Classifications	CA4292446	rs_137953195	6 SubmittersRCV000327769 RCV000382394 RCV000492857 RCV000984480 RCV004530459
NM_000501.4(ELN):c.861G>A (p.Gly287=)	SNV Germline	Chr7:74051811	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Condition: not provided ELN-related disorder	Criteria Provided Conflicting Classifications	CA4292726	rs_368610108	7 SubmittersRCV000313561 RCV000471889 RCV001579470 RCV004530460
NM_000501.4(ELN):c.1281C>T (p.Pro427=)	SNV Germline	Chr7:74056401	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA4292915	rs_376496267	2 SubmittersRCV000291392 RCV000385690
NM_000501.4(ELN):c.163+13A>G	SNV Germline	Chr7:74036597	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA4292322	rs_782388951	2 SubmittersRCV000260411 RCV000355248
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)	SNV Germline	Chr7:74063191	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4293244	rs_200133966	4 SubmittersRCV000285328 RCV000381857 RCV001556564 RCV004022054
NM_000501.4(ELN):c.930C>T (p.Ala310=)	SNV Germline	Chr7:74051964	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant Condition: not provided ELN-related disorder	Criteria Provided Conflicting Classifications	CA4292767	rs_147367888	5 SubmittersRCV000269825 RCV000324956 RCV000659073 RCV004544695
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)	SNV Germline	Chr7:74056354	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4292902	rs_375116795	3 SubmittersRCV000305970 RCV000360713 RCV001551670
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)	SNV Germline	Chr7:74063312	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided ELN-related disorder	Criteria Provided Conflicting Classifications	CA4293267	rs_150404125	8 SubmittersRCV000281338 RCV000338747 RCV001579838 RCV004544696
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)	SNV Germline	Chr7:74065988	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4293372	rs_369804770	3 SubmittersRCV000311994 RCV000369053 RCV000443075
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)	SNV Germline	Chr7:74063360	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Williams syndrome ELN-related disorder	Criteria Provided Conflicting Classifications	CA4293282	rs_536177240	4 SubmittersRCV000298998 RCV000407993 RCV001198806 RCV004544697
NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=)	SNV Germline	Chr10:95614027	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 de Barsy syndrome	Criteria Provided Conflicting Classifications	CA5620240	rs_139035272	2 SubmittersRCV000308127 RCV003765775
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=)	SNV Germline	Chr10:95616486	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome Condition: not provided Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 de Barsy syndrome	Criteria Provided Conflicting Classifications	CA5620278	rs_200730342	3 SubmittersRCV000273737 RCV001697655 RCV003765776
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)	SNV Germline	Chr10:95621190	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome Condition: not provided ALDH18A1-related disorder Hereditary spastic paraplegia Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 de Barsy syndrome	Criteria Provided Conflicting Classifications	CA5620356	rs_144816455	6 SubmittersRCV000263281 RCV001697656 RCV004537703 RCV001848078 RCV003765779
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His)	SNV Germline	Chr11:65868054	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, autosomal recessive, type 1B Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA6110443	rs_141868759	6 SubmittersRCV000658599 RCV001080329 RCV002379175
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=)	SNV Germline	Chr11:65872256	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cutis laxa, autosomal recessive, type 1B not specified	Criteria Provided Conflicting Classifications	CA6110789	rs_140946753	4 SubmittersRCV002379176 RCV000873647 RCV003330638
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=)	SNV Germline	Chr12:123722418	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy Condition: not provided ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications	CA6861539	rs_139785866	4 SubmittersRCV000394202 RCV000884990 RCV002056276 RCV003967885
NM_002860.4(ALDH18A1):c.2110+13A>G	SNV Germline	Chr10:95611243	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome not specified Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 de Barsy syndrome	Criteria Provided Conflicting Classifications	CA5620150	rs_375782465	3 SubmittersRCV000339674 RCV000599722 RCV003765770
NM_002860.4(ALDH18A1):c.933+14G>A	SNV Germline	Chr10:95628354	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 de Barsy syndrome	Criteria Provided Conflicting Classifications	CA5620472	rs_546156675	2 SubmittersRCV000283991 RCV003765783
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=)	SNV Germline	Chr10:95637159	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome Condition: not provided Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 de Barsy syndrome ALDH18A1-related disorder Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA5620588	rs_150472102	6 SubmittersRCV000287820 RCV001580480 RCV003765784 RCV004537704 RCV001848080
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)	SNV Germline	Chr11:65868335	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, autosomal recessive, type 1B Cardiovascular phenotype Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA6110481	rs_148410446	7 SubmittersRCV000788132 RCV001088860 RCV002446555 RCV003485576
NM_002860.4(ALDH18A1):c.934-7T>A	SNV Germline	Chr10:95627593	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 de Barsy syndrome	Criteria Provided Conflicting Classifications	CA5620463	rs_772389382	2 SubmittersRCV000376066 RCV003765782
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=)	SNV Germline	Chr12:123737226	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy Condition: not provided ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications	CA6861784	rs_367873118	5 SubmittersRCV000328554 RCV001697658 RCV002520795 RCV003897705
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)	SNV Germline	Chr12:123751188	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA6862089	rs_367950442	3 SubmittersRCV000401678 RCV000865321 RCV001718625
NM_012463.4(ATP6V0A2):c.*191T>C	SNV Germline	Chr12:123758223	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10636731	rs_150408179	3 SubmittersRCV000331687 RCV001582945
NM_002860.4(ALDH18A1):c.1153-13A>G	SNV Germline	Chr10:95625468	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome Condition: not provided Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 de Barsy syndrome	Criteria Provided Conflicting Classifications	CA5620402	rs_370680325	3 SubmittersRCV000316163 RCV001718609 RCV003765780
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)	SNV Germline	Chr11:65867062	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Cardiovascular phenotype EFEMP2-related disorder	Criteria Provided Conflicting Classifications	CA6110374	rs_2234473	12 SubmittersRCV000554306 RCV000589385 RCV003485575 RCV002338879 RCV003957579
NM_016938.5(EFEMP2):c.*115G>A	SNV Germline	Chr11:65866803	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Condition: not provided	Criteria Provided Conflicting Classifications	CA6110330	rs_187686630	2 SubmittersRCV000312066 RCV001560637
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)	SNV Germline	Chr11:65868384	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Condition: not provided Cardiovascular phenotype EFEMP2-related disorder	Criteria Provided Conflicting Classifications	CA6110491	rs_142509316	10 SubmittersRCV000625314 RCV001707637 RCV002446556 RCV003950026
NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=)	SNV Germline	Chr12:123757966	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications	CA6862279	rs_535703391	2 SubmittersRCV000261650 RCV003940172
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=)	SNV Germline	Chr14:91870380	Conflicting classifications of pathogenicity	Macular degeneration, age-related, 3 Cutis laxa Condition: not provided	Criteria Provided Conflicting Classifications	CA7312583	rs_148660796	4 SubmittersRCV000270558 RCV000325555 RCV000910443
NM_006329.4(FBLN5):c.862+12C>T	SNV Germline	Chr14:91882942	Conflicting classifications of pathogenicity	Cutis laxa Macular degeneration, age-related, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA7312725	rs_202088447	2 SubmittersRCV000307466 RCV000395579 RCV002061169
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser)	SNV Germline	Chr14:91887256	Conflicting classifications of pathogenicity	Cutis laxa Macular degeneration, age-related, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA7312762	rs_747288805	2 SubmittersRCV000308840 RCV000358898 RCV001850661
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)	SNV Germline	Chr12:123724671	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6861576	rs_563333869	3 SubmittersRCV000338336 RCV000910841 RCV002056277
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)	SNV Germline	Chr12:123727875	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy not specified ALG9 congenital disorder of glycosylation Cutis laxa with osteodystrophy Wrinkly skin syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6861676	rs_143802431	6 SubmittersRCV000310903 RCV000493630 RCV000872211 RCV000763803 RCV001705460 RCV004021535
NM_001042545.2(LTBP4):c.443-14C>T	SNV Germline	Chr19:40605391	Conflicting classifications of pathogenicity	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA9448041	rs_375934176	2 SubmittersRCV000405342 RCV002521233
NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg)	SNV Germline	Chr19:40616985	Conflicting classifications of pathogenicity	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Condition: not provided LTBP4-related disorder	Criteria Provided Conflicting Classifications	CA9448822	rs_200667255	6 SubmittersRCV000368167 RCV000842389 RCV003957691
NM_006329.4(FBLN5):c.989+9C>T	SNV Germline	Chr14:91881283	Conflicting classifications of pathogenicity	Macular degeneration, age-related, 3 Cutis laxa Condition: not provided	Criteria Provided Conflicting Classifications	CA7312683	rs_557362799	2 SubmittersRCV000281897 RCV000371742 RCV000980663
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala)	SNV Germline	Chr14:91937102	Conflicting classifications of pathogenicity	Macular degeneration Cutis Laxa, Dominant/Recessive not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7312906	rs_145108467	7 SubmittersRCV000303754 RCV000361075 RCV000611423 RCV001555554 RCV002522340
NM_006329.4(FBLN5):c.*648G>A	SNV Germline	Chr14:91869576	Conflicting classifications of pathogenicity	Macular degeneration, age-related, 3 Cutis laxa	Criteria Provided Conflicting Classifications	CA10646537	rs_182435130	1 SubmittersRCV000275616 RCV000330737
NM_006907.4(PYCR1):c.399C>T (p.Thr133=)	SNV Germline	Chr17:81935067	Conflicting classifications of pathogenicity	Cutis laxa Condition: not provided	Criteria Provided Conflicting Classifications	CA8845453	rs_148883988	3 SubmittersRCV000329511 RCV000981180
NM_006907.4(PYCR1):c.261G>A (p.Glu87=)	SNV Germline	Chr17:81935394	Conflicting classifications of pathogenicity	Cutis laxa Condition: not provided	Criteria Provided Conflicting Classifications	CA8845513	rs_138261889	4 SubmittersRCV000330705 RCV000860954
NM_006907.4(PYCR1):c.110T>G (p.Met37Arg)	SNV Germline	Chr17:81936151	Conflicting classifications of pathogenicity	Cutis laxa Condition: not provided PYCR1-related disorder	Criteria Provided Conflicting Classifications	CA8845567	rs_138792258	4 SubmittersRCV000340188 RCV001590963 RCV003969927
NM_001042545.2(LTBP4):c.2436G>A (p.Val812=)	SNV Germline	Chr19:40613408	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Criteria Provided Conflicting Classifications	CA9448681	rs_371083223	4 SubmittersRCV000955752 RCV000396282
NM_001042545.2(LTBP4):c.2934C>T (p.Gly978=)	SNV Germline	Chr19:40617010	Conflicting classifications of pathogenicity	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA9448827	rs_768587659	2 SubmittersRCV000273613 RCV002521236
NM_006907.4(PYCR1):c.768C>T (p.Asn256=)	SNV Germline	Chr17:81934355	Conflicting classifications of pathogenicity	Cutis laxa Condition: not provided	Criteria Provided Conflicting Classifications	CA8845325	rs_553609380	2 SubmittersRCV000358486 RCV002524448
NM_006907.4(PYCR1):c.633+1G>C	SNV Germline	Chr17:81934652	Pathogenic/Likely pathogenic	Cutis laxa Inborn genetic diseases Wiedemann-Rautenstrauch-like progeroid syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8845370	rs_144346996	5 SubmittersRCV000399805 RCV000623063 RCV001291130 RCV001569626
NM_006907.4(PYCR1):c.285C>T (p.Cys95=)	SNV Germline	Chr17:81935370	Conflicting classifications of pathogenicity	Cutis laxa Condition: not provided PYCR1-related disorder	Criteria Provided Conflicting Classifications	CA8845507	rs_113491328	5 SubmittersRCV000275665 RCV000861053 RCV003912359
NM_006907.4(PYCR1):c.180G>A (p.Val60=)	SNV Germline	Chr17:81935475	Conflicting classifications of pathogenicity	Cutis laxa Condition: not provided	Criteria Provided Conflicting Classifications	CA8845536	rs_142458410	3 SubmittersRCV000389717 RCV001711939
NM_006907.4(PYCR1):c.176C>T (p.Thr59Met)	SNV Germline	Chr17:81935479	Conflicting classifications of pathogenicity	Cutis laxa Condition: not provided	Criteria Provided Conflicting Classifications	CA8845537	rs_150227130	3 SubmittersRCV000295403 RCV001559809
NM_001042545.2(LTBP4):c.639C>T (p.Tyr213=)	SNV Germline	Chr19:40605601	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Criteria Provided Conflicting Classifications	CA9448080	rs_746458434	2 SubmittersRCV003736722 RCV000279582
NM_001042545.2(LTBP4):c.2681-10C>G	SNV Germline	Chr19:40614305	Conflicting classifications of pathogenicity	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies not specified Condition: not provided LTBP4-related disorder	Criteria Provided Conflicting Classifications	CA9448775	rs_200914063	5 SubmittersRCV000364178 RCV000607965 RCV000918760 RCV003957690
NM_001042545.2(LTBP4):c.2739C>T (p.Asn913=)	SNV Germline	Chr19:40614373	Conflicting classifications of pathogenicity	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Condition: not provided	Criteria Provided Conflicting Classifications	CA9448786	rs_2303726	3 SubmittersRCV000396279 RCV001582971
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)	SNV Germline	ChrX:77988399	Conflicting classifications of pathogenicity	not specified Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10458904	rs_539177302	5 SubmittersRCV000414022 RCV000530559 RCV001828381 RCV003144246 RCV002436234
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=)	SNV Germline	ChrX:78031462	Conflicting classifications of pathogenicity	not specified Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications	CA16043333	rs_1057518370	3 SubmittersRCV000413911 RCV001835789 RCV002523950
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe)	SNV Germline	ChrX:78011199	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications	CA10459156	rs_372898963	3 SubmittersRCV000416018 RCV001087633
NM_000501.4(ELN):c.232+3G>A	SNV Germline	Chr7:74041254	Conflicting classifications of pathogenicity	not specified Condition: not provided Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1	Criteria Provided Conflicting Classifications	CA4292385	rs_377172364	7 SubmittersRCV000444452 RCV000998804 RCV001055635 RCV001163092
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)	SNV Germline	Chr11:65871991	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, autosomal recessive, type 1B Cardiovascular phenotype not specified EFEMP2-related disorder	Criteria Provided Conflicting Classifications	CA6110776	rs_144320036	11 SubmittersRCV000761780 RCV001000039 RCV002393037 RCV003401432 RCV003902611
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro)	SNV Germline	Chr10:95627529	Conflicting classifications of pathogenicity	Condition: not provided Spondyloepiphyseal dysplasia, Stanescu type ALDH18A1-related de Barsy syndrome Inborn genetic diseases Autosomal recessive complex spastic paraplegia type 9B Autosomal dominant spastic paraplegia type 9 de Barsy syndrome Cutis laxa, autosomal dominant 3	Criteria Provided Conflicting Classifications	CA5620450	rs_765380273	6 SubmittersRCV000429762 RCV000850403 RCV003152603 RCV002525501 RCV003147460 RCV003766464
NM_012463.4(ATP6V0A2):c.1189+12G>T	SNV Germline	Chr12:123743947	Conflicting classifications of pathogenicity	not specified Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6861863	rs_377235629	3 SubmittersRCV000433780 RCV001113314 RCV002063585
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser)	SNV Germline	Chr10:95606805	Conflicting classifications of pathogenicity	Condition: not provided ALDH18A1-related de Barsy syndrome de Barsy syndrome Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9	Criteria Provided Conflicting Classifications	CA5620083	rs_774047299	3 SubmittersRCV000444022 RCV000995483 RCV003766249
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)	SNV Germline	Chr10:95606918	Conflicting classifications of pathogenicity	Condition: not provided ALDH18A1-related de Barsy syndrome Hereditary spastic paraplegia Autosomal dominant spastic paraplegia type 9 de Barsy syndrome Cutis laxa, autosomal dominant 3 ALDH18A1-related disorder	Criteria Provided Conflicting Classifications	CA5620100	rs_148601288	6 SubmittersRCV000639569 RCV001104017 RCV001848793 RCV003766437 RCV004533121
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=)	SNV Germline	Chr10:95610243	Conflicting classifications of pathogenicity	Condition: not provided ALDH18A1-related de Barsy syndrome Autosomal dominant spastic paraplegia type 9 de Barsy syndrome Cutis laxa, autosomal dominant 3	Criteria Provided Conflicting Classifications	CA5620124	rs_374052426	4 SubmittersRCV000761739 RCV001104317 RCV003766466
NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter)	SNV Germline	Chr10:95633013	Pathogenic	Condition: not provided de Barsy syndrome Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9	Criteria Provided Multiple Submitters No Conflicts	CA5620528	rs_758543218	2 SubmittersRCV000441761 RCV003766465
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)	SNV Germline	Chr12:123724781	Conflicting classifications of pathogenicity	not specified Condition: not provided Cutis laxa with osteodystrophy Wrinkly skin syndrome Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6861598	rs_143509747	8 SubmittersRCV000423155 RCV000729905 RCV000763802 RCV001113218 RCV001861625
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln)	SNV Germline	ChrX:78003159	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Conflicting Classifications	CA10459074	rs_782491733	2 SubmittersRCV000430636 RCV001454784
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile)	SNV Germline	ChrX:78031400	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Conflicting Classifications	CA10459383	rs_181435872	2 SubmittersRCV000429551 RCV001080223
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)	SNV Germline	ChrX:77989622	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome Ehlers-Danlos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10458981	rs_368622356	7 SubmittersRCV000445022 RCV001196180 RCV001085591 RCV001274227 RCV002279202 RCV002348215
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn)	SNV Germline	ChrX:78009196	Conflicting classifications of pathogenicity	not specified Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Conflicting Classifications	CA10459112	rs_371777895	2 SubmittersRCV000443197 RCV001035427
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)	SNV Germline	ChrX:77989652	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked not specified	Criteria Provided Conflicting Classifications	CA10458986	rs_782196306	3 SubmittersRCV000426016 RCV001089330 RCV002282146
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)	SNV Germline	ChrX:78009115	Conflicting classifications of pathogenicity	not specified Condition: not provided Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Inborn genetic diseases Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications	CA10459093	rs_782076879	5 SubmittersRCV000444044 RCV001508048 RCV001861618 RCV002402192 RCV001833557
NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro)	SNV Germline	Chr22:17600079	Pathogenic	Autosomal recessive cutis laxa type 2C	No Assertion Criteria Provided	CA16616866	rs_1060505031	1 SubmittersRCV000477698
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)	SNV Germline	Chr22:17592721	Pathogenic/Likely pathogenic	Autosomal recessive cutis laxa type 2C Condition: not provided Cutis laxa RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA16616867	rs_1028534806	6 SubmittersRCV000477738 RCV002298611 RCV004579547 RCV004541516
NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp)	SNV Germline	Chr3:113784227	Pathogenic	Autosomal recessive cutis laxa type 2D	No Assertion Criteria Provided	CA16616874	rs_1060505037	1 SubmittersRCV000477689
NM_000501.4(ELN):c.1537G>A (p.Val513Ile)	SNV Germline	Chr7:74060008	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, autosomal dominant 1 Inborn genetic diseases Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA4293089	rs_372788076	4 SubmittersRCV000478684 RCV002470874 RCV002526957 RCV002525947
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)	SNV Germline	ChrX:78046379	Conflicting classifications of pathogenicity	Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10459542	rs_782682493	3 SubmittersRCV000640892 RCV001722409 RCV002329161
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu)	SNV Germline	ChrX:77989704	Conflicting classifications of pathogenicity	Condition: not provided X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications	CA10458989	rs_782651571	3 SubmittersRCV000487621 RCV001362009
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala)	SNV Germline	ChrX:77998525	Conflicting classifications of pathogenicity	Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Condition: not provided Menkes kinky-hair syndrome ATP7A-related disorder	Criteria Provided Conflicting Classifications	CA10459044	rs_781964005	4 SubmittersRCV001241257 RCV001696820 RCV001835828 RCV003424044
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg)	SNV Germline	ChrX:78012931	Conflicting classifications of pathogenicity	Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Condition: not provided Menkes kinky-hair syndrome ATP7A-related disorder	Criteria Provided Conflicting Classifications	CA10459243	rs_782664014	4 SubmittersRCV001241258 RCV001712456 RCV001834599 RCV003419831
NM_016938.5(EFEMP2):c.-113C>T	SNV Germline	Chr11:65872788	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Condition: not provided	Criteria Provided Conflicting Classifications	CA6110810	rs_188624478	3 SubmittersRCV000506816 RCV001778984
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=)	SNV Germline	Chr10:95621184	Conflicting classifications of pathogenicity	Condition: not provided ALDH18A1-related de Barsy syndrome Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9 de Barsy syndrome ALDH18A1-related disorder	Criteria Provided Conflicting Classifications	CA5620353	rs_150526956	5 SubmittersRCV000512700 RCV001107749 RCV003766892 RCV004535649
NM_000501.4(ELN):c.460G>A (p.Val154Met)	SNV Germline	Chr7:74043911	Conflicting classifications of pathogenicity	Condition: not provided Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 ELN-related disorder	Criteria Provided Conflicting Classifications	CA4292496	rs_145669576	5 SubmittersRCV000522898 RCV001158464 RCV001158465 RCV004541630
NM_000501.4(ELN):c.473C>T (p.Ala158Val)	SNV Germline	Chr7:74045225	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, autosomal dominant 1 Inborn genetic diseases Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA4292521	rs_201137255	4 SubmittersRCV000521003 RCV001161669 RCV002525163 RCV001161668
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr)	SNV Germline	Chr17:81934931	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive cutis laxa type 2B Wiedemann-Rautenstrauch-like progeroid syndrome Cutis laxa	Criteria Provided Multiple Submitters No Conflicts	CA8845416	rs_139751598	6 SubmittersRCV000519424 RCV000856791 RCV001291131 RCV001584233
NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys)	SNV Germline	Chr19:40611223	Conflicting classifications of pathogenicity	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9448462	rs_200338042	5 SubmittersRCV001132168 RCV000762019 RCV002525140
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr)	SNV Germline	ChrX:77988263	Conflicting classifications of pathogenicity	Condition: not provided X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Conflicting Classifications	CA413598781	rs_1557231562	2 SubmittersRCV000521317 RCV003766966
NM_000052.7(ATP7A):c.673A>G (p.Met225Val)	SNV Germline	ChrX:77989295	Conflicting classifications of pathogenicity	Condition: not provided X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Conflicting Classifications	CA10458952	rs_782619990	2 SubmittersRCV000523020 RCV001079767
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr)	SNV Germline	ChrX:77989662	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Conflicting Classifications	CA10458987	rs_368982547	3 SubmittersRCV000520631 RCV001834711 RCV002527654
NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)	SNV Germline	Chr10:95637100	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided de Barsy syndrome Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3	Criteria Provided Conflicting Classifications	CA5620586	rs_201428777	4 SubmittersRCV001848936 RCV002526112 RCV003424107 RCV003766998
NM_016938.5(EFEMP2):c.422A>T (p.His141Leu)	SNV Germline	Chr11:65870604	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA6110671	rs_148315164	4 SubmittersRCV000548233 RCV001788285 RCV002330952
NM_016938.5(EFEMP2):c.990G>A (p.Pro330=)	SNV Germline	Chr11:65868041	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA6110439	rs_61740381	4 SubmittersRCV000531562 RCV001556936 RCV004024217
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys)	SNV Germline	Chr11:65870617	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA381307982	rs_1306393544	3 SubmittersRCV000542730 RCV002324035
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)	SNV Germline	ChrX:78033783	Pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter	CA413604244	rs_1557237451	1 SubmittersRCV000530815
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=)	SNV Germline	ChrX:78046489	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Ehlers-Danlos syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA517460894	rs_1557239138	3 SubmittersRCV000545476 RCV002279348 RCV002330881
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala)	SNV Germline	ChrX:78033785	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome Condition: not provided Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications	CA10459417	rs_138154934	3 SubmittersRCV000550411 RCV001547294 RCV001834780
NM_000052.7(ATP7A):c.4006-1G>A	SNV Germline	ChrX:78043316	Likely pathogenic	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3	Criteria Provided Single Submitter	CA413605455	rs_1557238665	1 SubmittersRCV000538247
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)	SNV Germline	ChrX:77989778	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome not specified Condition: not provided Inborn genetic diseases ATP7A-related disorder	Criteria Provided Conflicting Classifications	CA10459000	rs_369419911	5 SubmittersRCV000549839 RCV002265795 RCV001764568 RCV002367848 RCV003900169
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys)	SNV Germline	ChrX:78011573	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome not specified	Criteria Provided Conflicting Classifications	CA331096924	rs_944415019	2 SubmittersRCV000541241 RCV000608309
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val)	SNV Germline	ChrX:78015774	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10459289	rs_372318616	4 SubmittersRCV000555196 RCV001508049 RCV002431615
NM_000052.7(ATP7A):c.3111+1G>A	SNV Germline	ChrX:78029445	Likely pathogenic	Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter	CA413603416	rs_1557236762	1 SubmittersRCV000552537
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)	SNV Germline	Chr17:81935111	Pathogenic/Likely pathogenic	Autosomal recessive cutis laxa type 2B Condition: not provided Cutis laxa PYCR1-related disorder PYCR1-related de Barsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA8845460	rs_121918376	9 SubmittersRCV000578310 RCV001550766 RCV002509452 RCV003945359 RCV003992334
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter)	SNV Germline	Chr10:95606857	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9 de Barsy syndrome Cutis laxa, autosomal dominant 3	Criteria Provided Conflicting Classifications	CA377698996	rs_1462559161	4 SubmittersRCV000578985 RCV001330992 RCV003767254
NM_000052.7(ATP7A):c.2499-7T>C	SNV Germline	ChrX:78015747	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Conflicting Classifications	CA10459288	rs_782260332	4 SubmittersRCV000585324 RCV001829613 RCV001510001
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg)	SNV Germline	ChrX:78046377	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Conflicting Classifications	CA413606147	rs_1557239111	2 SubmittersRCV000585598 RCV001483521
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)	SNV Germline	Chr12:123722418	Conflicting classifications of pathogenicity	ALG9 congenital disorder of glycosylation Cutis laxa with osteodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA6861538	rs_139785866	5 SubmittersRCV001085019 RCV001113217 RCV000726817
NM_002860.4(ALDH18A1):c.1467+15C>T	SNV Germline	Chr10:95621016	Conflicting classifications of pathogenicity	not specified ALDH18A1-related de Barsy syndrome de Barsy syndrome Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3	Criteria Provided Conflicting Classifications	CA5620316	rs_374652686	3 SubmittersRCV000605749 RCV001107745 RCV003767684
NM_016938.5(EFEMP2):c.728-3C>T	SNV Germline	Chr11:65868632	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Condition: not provided Cardiovascular phenotype EFEMP2-related disorder	Criteria Provided Conflicting Classifications	CA6110535	rs_377139656	6 SubmittersRCV000649948 RCV001712623 RCV002384320 RCV003927964
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=)	SNV Germline	Chr10:95621130	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome Condition: not provided de Barsy syndrome Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3	Criteria Provided Conflicting Classifications	CA5620338	rs_369979669	3 SubmittersRCV001107747 RCV001718941 RCV003767569
NM_001042545.2(LTBP4):c.864C>T (p.Cys288=)	SNV Germline	Chr19:40606303	Conflicting classifications of pathogenicity	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA9448115	rs_758784148	3 SubmittersRCV001136425 RCV000605281 RCV002528544
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met)	SNV Germline	ChrX:78009183	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Condition: not provided Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications	CA10459109	rs_781959472	3 SubmittersRCV000615428 RCV001755993 RCV003767739
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)	SNV Germline	ChrX:78046491	Conflicting classifications of pathogenicity	Inborn genetic diseases X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Menkes kinky-hair syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10459553	rs_782774219	5 SubmittersRCV000624547 RCV000687489 RCV001829743 RCV003151797
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)	SNV Germline	Chr10:95606919	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 5A de Barsy syndrome Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3	Criteria Provided Conflicting Classifications	CA5620102	rs_762271422	2 SubmittersRCV000626090 RCV003767836
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)	SNV Germline	Chr7:74060429	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Williams syndrome Condition: not provided Inborn genetic diseases ELN-related disorder	Criteria Provided Conflicting Classifications	CA4293156	rs_560081099	5 SubmittersRCV000627827 RCV000765973 RCV000762455 RCV002533162 RCV004533301
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)	SNV Germline	ChrX:77989502	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome See cases Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10458969	rs_150526992	5 SubmittersRCV000842321 RCV001089200 RCV002252186 RCV002449009
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)	SNV Germline	ChrX:77998526	Conflicting classifications of pathogenicity	Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10459045	rs_201999500	5 SubmittersRCV000640895 RCV001508046 RCV002388073
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)	SNV Germline	ChrX:78012985	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10459249	rs_782006661	5 SubmittersRCV000640891 RCV001756068 RCV002449008
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met)	SNV Germline	ChrX:78029281	Conflicting classifications of pathogenicity	Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10459361	rs_782094358	2 SubmittersRCV000640908 RCV001726282
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr)	SNV Germline	ChrX:78020342	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10459317	rs_146119866	3 SubmittersRCV000640890 RCV001835031 RCV002424438
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro)	SNV Germline	ChrX:77998516	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Conflicting Classifications		rs_374530062	3 SubmittersRCV000658425 RCV001829823 RCV002536328
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser)	SNV Germline	ChrX:78029257	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Conflicting Classifications		rs_1557236698	3 SubmittersRCV000658090 RCV001835901 RCV002534270
NM_002860.4(ALDH18A1):c.718-7A>C	SNV Germline	Chr10:95633056	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant spastic paraplegia type 9 de Barsy syndrome Cutis laxa, autosomal dominant 3	Criteria Provided Conflicting Classifications		rs_1230591674	2 SubmittersRCV000658574 RCV003767897
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val)	SNV Germline	ChrX:78013081	Conflicting classifications of pathogenicity	Condition: not provided X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications		rs_782770209	2 SubmittersRCV000659169 RCV002536336
NM_000501.4(ELN):c.767C>T (p.Ala256Val)	SNV Germline	Chr7:74048524	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1	Criteria Provided Conflicting Classifications		rs_782285456	2 SubmittersRCV000693591 RCV001165287
NM_016938.5(EFEMP2):c.608-1G>C	SNV Germline	Chr11:65869977	Likely pathogenic	Cutis laxa, autosomal recessive, type 1B	Criteria Provided Single Submitter		rs_888015688	1 SubmittersRCV000698216
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)	SNV Germline	ChrX:77998678	Pathogenic	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Single Submitter		rs_1569549699	1 SubmittersRCV000704722
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)	SNV Germline	ChrX:77989466	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782237314	5 SubmittersRCV000703372 RCV001508045 RCV003380695
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)	SNV Germline	ChrX:77971656	Conflicting classifications of pathogenicity	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_781952393	2 SubmittersRCV000821440 RCV002318870
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)	SNV Germline	ChrX:78009250	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Inborn genetic diseases ATP7A-related disorder	Criteria Provided Conflicting Classifications		rs_1569549841	4 SubmittersRCV000990879 RCV001862055 RCV002318099 RCV003908003
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)	SNV Germline	ChrX:78046515	Conflicting classifications of pathogenicity	Inborn genetic diseases X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Conflicting Classifications		rs_782799150	2 SubmittersRCV002314494 RCV003768130
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln)	SNV Germline	ChrX:78038956	Conflicting classifications of pathogenicity	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782166627	2 SubmittersRCV001466222 RCV002318876
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)	SNV Germline	Chr12:123737187	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_75746974	4 SubmittersRCV000728672 RCV001111307 RCV001412196
NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter)	SNV Germline	Chr19:40611169	Pathogenic	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Criteria Provided Single Submitter		rs_1568406407	1 SubmittersRCV000779629
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)	SNV Germline	Chr10:95621225	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome Condition: not provided de Barsy syndrome Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9	Criteria Provided Conflicting Classifications		rs_762742204	6 SubmittersRCV000782365 RCV001576379 RCV003768458
NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu)	SNV Germline	Chr11:65868323	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Cardiovascular phenotype Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_113167523	3 SubmittersRCV000811980 RCV002370184 RCV003485648
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile)	SNV Germline	ChrX:77988328	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications		rs_782290331	2 SubmittersRCV000793378 RCV002279531
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn)	SNV Germline	ChrX:77988435	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications		rs_782475540	3 SubmittersRCV000816879 RCV001825642
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)	SNV Germline	ChrX:77988489	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782664232	3 SubmittersRCV000803726 RCV002345800
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)	SNV Germline	ChrX:78003087	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Menkes kinky-hair syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1331470313	4 SubmittersRCV000804376 RCV001830742 RCV003117594
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)	SNV Germline	ChrX:78011633	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782268170	5 SubmittersRCV000818218 RCV001552958 RCV002415920
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr)	SNV Germline	ChrX:78020327	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Menkes kinky-hair syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1427317043	3 SubmittersRCV000809589 RCV001835973 RCV003314649
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)	SNV Germline	ChrX:78042651	Pathogenic	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Single Submitter		rs_1603391120	1 SubmittersRCV000813946
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)	SNV Germline	ChrX:78046423	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_782364202	4 SubmittersRCV000792466 RCV001830686 RCV003437428
NM_002860.4(ALDH18A1):c.88+1G>A	SNV Germline	Chr10:95653289	Likely pathogenic	ALDH18A1-related de Barsy syndrome Condition: not provided ALDH18A1-related disorder Autosomal dominant spastic paraplegia type 9 de Barsy syndrome Cutis laxa, autosomal dominant 3	Criteria Provided Multiple Submitters No Conflicts		rs_556267618	5 SubmittersRCV000853365 RCV001550422 RCV002279963 RCV003768530
NM_000052.7(ATP7A):c.3294+1G>A	SNV Germline	ChrX:78031583	Pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter		rs_797045374	1 SubmittersRCV000803093
NM_000052.7(ATP7A):c.1947-5A>G	SNV Germline	ChrX:78011444	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1557234466	3 SubmittersRCV000823770 RCV001825672 RCV002408994
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=)	SNV Germline	Chr12:123726211	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_140835376	3 SubmittersRCV000836118 RCV001114576 RCV002068554
NM_006907.4(PYCR1):c.615C>T (p.Leu205=)	SNV Germline	Chr17:81934671	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa	Criteria Provided Conflicting Classifications		rs_755711481	3 SubmittersRCV000838202 RCV001124508
NM_002860.4(ALDH18A1):c.304-3C>T	SNV Germline	Chr10:95637439	Conflicting classifications of pathogenicity	Condition: not provided ALDH18A1-related de Barsy syndrome de Barsy syndrome Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3	Criteria Provided Conflicting Classifications		rs_188362786	3 SubmittersRCV000841033 RCV001107154 RCV003768595
NM_000052.7(ATP7A):c.1543+9C>G	SNV Germline	ChrX:77998693	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications		rs_367977602	4 SubmittersRCV000841351 RCV001490968 RCV001830855 RCV002279557
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)	SNV Germline	Chr10:95610226	Conflicting classifications of pathogenicity	Spondyloepiphyseal dysplasia, Stanescu type Condition: not provided de Barsy syndrome Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 Autosomal recessive complex spastic paraplegia type 9B	Criteria Provided Conflicting Classifications		rs_773714478	5 SubmittersRCV000850402 RCV002062231 RCV003768618 RCV003992406
NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter)	SNV Germline	Chr2:55881637	Pathogenic	14 conditions Cutis laxa, autosomal recessive, type 1d	Criteria Provided Single Submitter		rs_765517862	2 SubmittersRCV000853093 RCV003991509
NM_006907.4(PYCR1):c.722C>T (p.Ala241Val)	SNV Unknown	Chr17:81934401	Pathogenic	Autosomal recessive cutis laxa type 2B	Criteria Provided Single Submitter		rs_770505872	1 SubmittersRCV000856800
NM_006907.4(PYCR1):c.11G>T (p.Gly4Val)	SNV Unknown	Chr17:81936804	Pathogenic	Autosomal recessive cutis laxa type 2B	Criteria Provided Single Submitter		rs_1598358440	1 SubmittersRCV000856734
NM_006907.4(PYCR1):c.540+1G>A	SNV Germline	Chr17:81934925	Pathogenic	Autosomal recessive cutis laxa type 2B Wiedemann-Rautenstrauch-like progeroid syndrome Condition: not provided PYCR1-related de Barsy syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_752297179	6 SubmittersRCV000856792 RCV001291252 RCV001726344 RCV003444700
NM_000501.4(ELN):c.1884C>T (p.Ala628=)	SNV Germline	Chr7:74063335	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_372315353	5 SubmittersRCV000862558 RCV001336345 RCV001593073
NM_000501.4(ELN):c.1994-7T>G	SNV Germline	Chr7:74065687	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided ELN-related disorder	Criteria Provided Conflicting Classifications		rs_375277198	4 SubmittersRCV000863362 RCV001158791 RCV001571307 RCV004540172
NM_000501.4(ELN):c.278C>T (p.Pro93Leu)	SNV Germline	Chr7:74042659	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_181019457	3 SubmittersRCV000865974 RCV001165177 RCV003279129
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly)	SNV Germline	Chr10:95606815	Conflicting classifications of pathogenicity	Condition: not provided ALDH18A1-related de Barsy syndrome Hereditary spastic paraplegia 9A de Barsy syndrome Cutis laxa, autosomal dominant 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_143874727	4 SubmittersRCV000876973 RCV001104016 RCV002064870 RCV002539234
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=)	SNV Germline	Chr11:65871161	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_746343857	5 SubmittersRCV000873604 RCV001566019 RCV002454026
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His)	SNV Germline	ChrX:78015837	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_782174967	2 SubmittersRCV000873628 RCV003438531
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)	SNV Germline	ChrX:77998568	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Condition: not provided Inborn genetic diseases X-linked distal spinal muscular atrophy type 3	Criteria Provided Conflicting Classifications		rs_782702847	5 SubmittersRCV000952590 RCV001274228 RCV003438626 RCV002391004 RCV002546039
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)	SNV Germline	ChrX:78046481	Conflicting classifications of pathogenicity	not specified Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Conflicting Classifications		rs_782062633	3 SubmittersRCV001000803 RCV001435844
NM_001042545.2(LTBP4):c.2235G>A (p.Ser745=)	SNV Germline	Chr19:40612128	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Criteria Provided Conflicting Classifications		rs_374862225	3 SubmittersRCV000883537 RCV001134570
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp)	SNV Germline	ChrX:78011456	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_377714939	2 SubmittersRCV000907741 RCV002416121
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)	SNV Germline	ChrX:78046334	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_149079962	3 SubmittersRCV001277502 RCV001404689 RCV002332942
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr)	SNV Germline	ChrX:77998651	Conflicting classifications of pathogenicity	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_781786942	3 SubmittersRCV000983812 RCV001274229 RCV003145243
NM_002860.4(ALDH18A1):c.2232G>C (p.Ser744=)	SNV Germline	Chr10:95606918	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9 de Barsy syndrome ALDH18A1-related disorder	Criteria Provided Conflicting Classifications		rs_148601288	3 SubmittersRCV000994484 RCV003769331 RCV004536025
NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly)	SNV Unknown	Chr17:81934729	Likely pathogenic	Autosomal recessive cutis laxa type 2B	Criteria Provided Single Submitter		rs_1180294322	1 SubmittersRCV001027684
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)	SNV Germline	Chr7:74054768	Pathogenic/Likely pathogenic	Supravalvar aortic stenosis Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Williams syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_199621188	2 SubmittersRCV001036361 RCV002489542
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg)	SNV Germline	Chr11:65869956	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Condition: not provided Cardiovascular phenotype Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_546162289	5 SubmittersRCV001040280 RCV001565379 RCV002363571 RCV003485677
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)	SNV Germline	ChrX:77989949	Conflicting classifications of pathogenicity	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1227094533	3 SubmittersRCV001070428 RCV001833668 RCV002379625
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)	SNV Germline	ChrX:78003103	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Inborn genetic diseases Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications		rs_368355216	3 SubmittersRCV001058784 RCV002402423 RCV001274231
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)	SNV Germline	ChrX:78038947	Conflicting classifications of pathogenicity	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 See cases Condition: not provided	Criteria Provided Conflicting Classifications		rs_146392305	3 SubmittersRCV001050454 RCV002252300 RCV001535156
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)	SNV Germline	ChrX:78040668	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1385333276	3 SubmittersRCV001043827 RCV002348365
NM_000501.4(ELN):c.35G>T (p.Gly12Val)	SNV Germline	Chr7:74028222	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Williams syndrome	Criteria Provided Conflicting Classifications		rs_367634266	5 SubmittersRCV001093392 RCV001158353 RCV001161558 RCV002505673
NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=)	SNV Germline	Chr10:95628482	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome Cutis laxa, autosomal dominant 3 de Barsy syndrome Autosomal dominant spastic paraplegia type 9	Criteria Provided Conflicting Classifications		rs_752470665	2 SubmittersRCV001104411 RCV003769088
NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=)	SNV Germline	Chr10:95643031	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome de Barsy syndrome Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9	Criteria Provided Conflicting Classifications		rs_537733180	2 SubmittersRCV001107155 RCV003769101
NM_016938.5(EFEMP2):c.874C>T (p.His292Tyr)	SNV Germline	Chr11:65868395	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_532989312	3 SubmittersRCV001106761 RCV003380848
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=)	SNV Germline	Chr11:65869945	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_199606204	3 SubmittersRCV001106762 RCV002365800
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=)	SNV Germline	Chr11:65871203	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_762409753	4 SubmittersRCV001108920 RCV001585983 RCV002320365
NM_002860.4(ALDH18A1):c.933+13T>C	SNV Germline	Chr10:95628355	Conflicting classifications of pathogenicity	ALDH18A1-related de Barsy syndrome de Barsy syndrome Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9	Criteria Provided Conflicting Classifications		rs_201520042	2 SubmittersRCV001104410 RCV003769087
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=)	SNV Germline	Chr12:123744334	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_985944979	2 SubmittersRCV001113316 RCV003502588
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=)	SNV Germline	Chr12:123744891	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_182439983	3 SubmittersRCV001114686 RCV001561688 RCV002069848
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=)	SNV Germline	Chr12:123756960	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_200933894	2 SubmittersRCV001111402 RCV003609178
NM_012463.4(ATP6V0A2):c.*2875A>C	SNV Germline	Chr12:123760907	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_149741581	2 SubmittersRCV001109271 RCV003405319
NM_012463.4(ATP6V0A2):c.1515-12T>G	SNV Germline	Chr12:123744870	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_201512900	2 SubmittersRCV001113319 RCV003502589
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln)	SNV Germline	Chr14:91870330	Conflicting classifications of pathogenicity	Cutis laxa Macular degeneration, age-related, 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_142907552	3 SubmittersRCV001116798 RCV001116797 RCV001856533
NM_006329.4(FBLN5):c.573A>G (p.Thr191=)	SNV Germline	Chr14:91891267	Conflicting classifications of pathogenicity	Macular degeneration, age-related, 3 Cutis laxa Condition: not provided	Criteria Provided Conflicting Classifications		rs_756288143	2 SubmittersRCV001118352 RCV001118353 RCV002069913
NM_006329.4(FBLN5):c.273G>A (p.Pro91=)	SNV Germline	Chr14:91937053	Conflicting classifications of pathogenicity	Cutis laxa Macular degeneration, age-related, 3 Condition: not provided FBLN5-related disorder	Criteria Provided Conflicting Classifications		rs_368771780	4 SubmittersRCV001119892 RCV001119893 RCV001574532 RCV003928720
NM_006907.4(PYCR1):c.717C>T (p.Ile239=)	SNV Germline	Chr17:81934406	Conflicting classifications of pathogenicity	Cutis laxa Condition: not provided	Criteria Provided Conflicting Classifications		rs_745549446	2 SubmittersRCV001123406 RCV003708572
NM_006907.4(PYCR1):c.798-4C>T	SNV Germline	Chr17:81933380	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa	Criteria Provided Conflicting Classifications		rs_1265069029	2 SubmittersRCV003698836 RCV001123405
NM_001042545.2(LTBP4):c.1020G>A (p.Gly340=)	SNV Germline	Chr19:40607393	Conflicting classifications of pathogenicity	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Condition: not provided	Criteria Provided Conflicting Classifications		rs_543717406	2 SubmittersRCV001136427 RCV003727891
NM_001042545.2(LTBP4):c.1041C>G (p.Arg347=)	SNV Germline	Chr19:40607414	Conflicting classifications of pathogenicity	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Condition: not provided	Criteria Provided Conflicting Classifications		rs_1213927843	2 SubmittersRCV001136428 RCV003769644
NM_001042545.2(LTBP4):c.1161T>C (p.Gly387=)	SNV Germline	Chr19:40608224	Conflicting classifications of pathogenicity	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Condition: not provided	Criteria Provided Conflicting Classifications		rs_554968375	4 SubmittersRCV001129441 RCV001311526
NM_001042545.2(LTBP4):c.2160T>C (p.Thr720=)	SNV Germline	Chr19:40611965	Conflicting classifications of pathogenicity	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Condition: not provided	Criteria Provided Conflicting Classifications		rs_578204135	2 SubmittersRCV001133093 RCV003718350
NM_001042545.2(LTBP4):c.2431+11T>C	SNV Germline	Chr19:40613207	Conflicting classifications of pathogenicity	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Condition: not provided	Criteria Provided Conflicting Classifications		rs_370485510	2 SubmittersRCV001134571 RCV002556877
NM_000501.4(ELN):c.478T>C (p.Phe160Leu)	SNV Germline	Chr7:74045230	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1	Criteria Provided Conflicting Classifications		rs_781857513	2 SubmittersRCV001161670 RCV001161671
NM_000501.4(ELN):c.483C>A (p.Pro161=)	SNV Germline	Chr7:74045235	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_150690195	4 SubmittersRCV001161672 RCV001161673 RCV001702769
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)	SNV Germline	Chr7:74048166	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_934014841	4 SubmittersRCV001163194 RCV001163195 RCV001664714 RCV004032867
NM_000501.4(ELN):c.853G>A (p.Val285Met)	SNV Germline	Chr7:74051803	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_199709542	3 SubmittersRCV001165289 RCV001165288 RCV003883565
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)	SNV Germline	Chr7:74060394	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1	Criteria Provided Conflicting Classifications		rs_150248865	2 SubmittersRCV001163419 RCV001163418
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)	SNV Germline	Chr7:74063185	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications		rs_781963804	2 SubmittersRCV001163706 RCV001163707
NM_000501.4(ELN):c.2131+14C>T	SNV Germline	Chr7:74066790	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications		rs_782790041	2 SubmittersRCV001163517 RCV001163518
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys)	SNV Germline	Chr11:65870545	Pathogenic/Likely pathogenic	Cutis laxa, autosomal recessive, type 1B	Criteria Provided Multiple Submitters No Conflicts		rs_761656636	3 SubmittersRCV001169986
NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly)	SNV Unknown	ChrX:78015831	Pathogenic	Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3	No Assertion Criteria Provided		rs_2077859082	1 SubmittersRCV001194652
NM_006329.4(FBLN5):c.739+14G>A	SNV Germline	Chr14:91887179	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1390709680	2 SubmittersRCV001196331 RCV002560220
NM_000052.7(ATP7A):c.1544-2A>T	SNV Germline	ChrX:78003071	Likely pathogenic	Cutis laxa, X-linked Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3	Criteria Provided Multiple Submitters No Conflicts		rs_2077751404	2 SubmittersRCV001198146 RCV001379325
NM_000052.7(ATP7A):c.2917-13C>A	SNV Germline	ChrX:78029237	Conflicting classifications of pathogenicity	Cutis laxa, X-linked Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3	Criteria Provided Conflicting Classifications		rs_1343084607	2 SubmittersRCV001196121 RCV003770201
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter)	SNV Germline	Chr11:65870229	Pathogenic	Cutis laxa, autosomal recessive, type 1B Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_763944898	2 SubmittersRCV001219308 RCV002339579
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter)	SNV Germline	ChrX:78038850	Pathogenic	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Single Submitter		rs_2078030304	1 SubmittersRCV001215698
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)	SNV Germline	ChrX:78046335	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Condition: not provided Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications		rs_368091927	3 SubmittersRCV001217137 RCV001569797 RCV001833889
NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter)	SNV Germline	Chr11:65868408	Pathogenic	Cutis laxa, autosomal recessive, type 1B	Criteria Provided Single Submitter		rs_1044449024	1 SubmittersRCV001206195
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr)	SNV Germline	ChrX:77989935	Conflicting classifications of pathogenicity	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_377651753	2 SubmittersRCV001236422 RCV002469357
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)	SNV Germline	ChrX:77989846	Conflicting classifications of pathogenicity	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Condition: not provided Menkes kinky-hair syndrome not specified	Criteria Provided Conflicting Classifications		rs_373634671	4 SubmittersRCV001243858 RCV001565809 RCV001835185 RCV003479302
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)	SNV Germline	ChrX:78011610	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_2234936	3 SubmittersRCV001240815 RCV001834131 RCV002418825
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)	SNV Germline	ChrX:78043384	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Menkes kinky-hair syndrome Intellectual disability Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1423719687	5 SubmittersRCV001241547 RCV001828980 RCV001252421 RCV002322147
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys)	SNV Germline	ChrX:78046313	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_781970260	4 SubmittersRCV001243392 RCV001559244 RCV001559246 RCV001559245 RCV002327588
NM_006907.4(PYCR1):c.559G>A (p.Ala187Thr)	SNV Germline	Chr17:81934727	Conflicting classifications of pathogenicity	Autosomal recessive cutis laxa type 2B PYCR1-related de Barsy syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_763349891	2 SubmittersRCV001249633 RCV002225812
NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe)	SNV Germline	Chr17:81934368	Conflicting classifications of pathogenicity	Autosomal recessive cutis laxa type 2B Condition: not provided	Criteria Provided Conflicting Classifications		rs_767581950	2 SubmittersRCV001254109 RCV002570554
NM_000052.7(ATP7A):c.1946+1G>T	SNV Germline	ChrX:78011253	Pathogenic	Cutis laxa, X-linked Menkes kinky-hair syndrome	Criteria Provided Single Submitter		rs_797045340	2 SubmittersRCV001254118 RCV003311971
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr)	SNV Germline	Chr10:95611342	Conflicting classifications of pathogenicity	Intellectual disability Cutis laxa, autosomal dominant 3 de Barsy syndrome Autosomal dominant spastic paraplegia type 9	Criteria Provided Conflicting Classifications		rs_989031241	2 SubmittersRCV001260897 RCV003770353
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg)	SNV Germline	Chr11:65870647	Pathogenic	Cutis laxa, autosomal recessive, type 1B	Criteria Provided Single Submitter		rs_1859949436	1 SubmittersRCV001261982
NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys)	SNV Germline	Chr10:95611256	Conflicting classifications of pathogenicity	Inborn genetic diseases Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9 de Barsy syndrome Condition: not provided ALDH18A1-related disorder	Criteria Provided Conflicting Classifications		rs_758219423	4 SubmittersRCV001265845 RCV003770383 RCV003313204 RCV004528443
NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys)	SNV Germline	Chr17:81934372	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Autosomal recessive cutis laxa type 2B not specified	Criteria Provided Conflicting Classifications		rs_756363870	4 SubmittersRCV001267330 RCV001880140 RCV003389069 RCV004526824
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=)	SNV Germline	ChrX:78045558	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications		rs_2078077936	3 SubmittersRCV001277501 RCV002069400 RCV002276673
NM_002317.7(LOX):c.1021A>C (p.Thr341Pro)	SNV Germline	Chr5:122074027	Likely pathogenic	Generalized arterial tortuosity Cutis laxa	Criteria Provided Single Submitter		rs_1436353084	1 SubmittersRCV001530398
NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter)	SNV Germline	Chr14:91877538	Pathogenic	Cutis laxa, autosomal recessive, type 1A	Criteria Provided Single Submitter		rs_746506432	1 SubmittersRCV001290131
NM_006907.4(PYCR1):c.67+2T>A	SNV Germline	Chr17:81936746	Pathogenic	Autosomal recessive cutis laxa type 2B	Criteria Provided Single Submitter		rs_2041207320	1 SubmittersRCV001290341
NM_006907.4(PYCR1):c.728A>G (p.His243Arg)	SNV Germline	Chr17:81934395	Pathogenic	Autosomal recessive cutis laxa type 2B	Criteria Provided Single Submitter		rs_2041098364	1 SubmittersRCV001290342
NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu)	SNV Germline	ChrX:78042678	Conflicting classifications of pathogenicity	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_782628250	2 SubmittersRCV001319490 RCV001760397
NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser)	SNV Germline	ChrX:78045526	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Condition: not provided	Criteria Provided Conflicting Classifications		rs_189818149	2 SubmittersRCV001323210 RCV003442846
NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter)	SNV Germline	Chr10:95621177	Pathogenic	Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9 de Barsy syndrome	Criteria Provided Single Submitter		rs_145289559	1 SubmittersRCV003786044
NM_001042545.2(LTBP4):c.1307-2A>G	SNV Germline	Chr19:40608482	Likely pathogenic	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_970983655	3 SubmittersRCV001332723 RCV001561201
NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr)	SNV Germline	ChrX:77988527	Conflicting classifications of pathogenicity	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_781912401	2 SubmittersRCV001897867 RCV003328684
NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu)	SNV Germline	ChrX:78009223	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Condition: not provided	Criteria Provided Conflicting Classifications		rs_781872960	2 SubmittersRCV001338453 RCV003232315
NM_001039348.3(EFEMP1):c.1201C>T (p.Arg401Ter)	SNV Germline	Chr2:55870839	Pathogenic	Cutis laxa Cutis laxa, autosomal recessive, type 1d	Criteria Provided Single Submitter		rs_2104369155	2 SubmittersRCV001354060 RCV003991511
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly)	SNV Germline	ChrX:77998589	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Condition: not provided	Criteria Provided Conflicting Classifications		rs_781834607	2 SubmittersRCV001366288 RCV003145627
NM_002860.4(ALDH18A1):c.1370G>T (p.Arg457Leu)	SNV Germline	Chr10:95621128	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant spastic paraplegia type 9 de Barsy syndrome Cutis laxa, autosomal dominant 3	Criteria Provided Conflicting Classifications		rs_570730665	2 SubmittersRCV001823207 RCV003771353
NM_002860.4(ALDH18A1):c.357C>T (p.Ala119=)	SNV Germline	Chr10:95637383	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia Autosomal dominant spastic paraplegia type 9 de Barsy syndrome Cutis laxa, autosomal dominant 3	Criteria Provided Conflicting Classifications		rs_767594147	3 SubmittersRCV001531078 RCV001847277 RCV003771437
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp)	SNV Germline	ChrX:78046419	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782232632	2 SubmittersRCV001475026 RCV002329571
NM_016938.5(EFEMP2):c.368-5C>T	SNV Germline	Chr11:65870663	Conflicting classifications of pathogenicity	Cutis laxa, autosomal recessive, type 1B Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications		rs_201248112	3 SubmittersRCV001498868 RCV002456899 RCV003331171
NM_006329.4(FBLN5):c.850C>T (p.Arg284Ter)	SNV Germline	Chr14:91882966	Likely pathogenic	Condition: not provided Cutis laxa, autosomal dominant	Criteria Provided Single Submitter		rs_2139960687	2 SubmittersRCV001507851 RCV003447324
NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu)	SNV Germline	ChrX:77989465	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications		rs_1039952708	2 SubmittersRCV001508044 RCV001865932
NM_000052.7(ATP7A):c.4426A>T (p.Ser1476Cys)	SNV Germline	ChrX:78046493	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Conflicting Classifications		rs_1557239144	2 SubmittersRCV001508053 RCV002564225
NM_206943.4(LTBP1):c.4431T>A (p.Cys1477Ter)	SNV Germline	Chr2:33364247	Pathogenic	Cutis laxa, autosomal recessive, type 2E	No Assertion Criteria Provided		rs_2150084747	1 SubmittersRCV001542240
NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter)	SNV Germline	Chr2:33186996	Likely pathogenic	Cutis laxa, autosomal recessive, type 2E	Criteria Provided Single Submitter		rs_1441358067	2 SubmittersRCV001542242
NM_000052.7(ATP7A):c.2917-4A>G	SNV Germline	ChrX:78029246	Conflicting classifications of pathogenicity	Cutis laxa, X-linked	No Assertion Criteria Provided		rs_2149104823	2 SubmittersRCV001542629
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)	SNV Germline	ChrX:78003090	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome Inborn genetic diseases Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Conflicting Classifications		rs_139902461	4 SubmittersRCV001563571 RCV001836449 RCV002405249 RCV002569018
NM_002860.4(ALDH18A1):c.809-1G>A	SNV Germline	Chr10:95628493	Likely pathogenic	Condition: not provided Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9 de Barsy syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1202802893	2 SubmittersRCV001578147 RCV003771757
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu)	SNV Germline	ChrX:77989641	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 ATP7A-related disorder	Criteria Provided Conflicting Classifications		rs_1557231845	6 SubmittersRCV001581620 RCV001836457 RCV001882701 RCV003399391
NM_000052.7(ATP7A):c.4006-11T>A	SNV Germline	ChrX:78043306	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3	Criteria Provided Conflicting Classifications		rs_1325784914	2 SubmittersRCV001752201 RCV002538772
NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg)	SNV Germline	ChrX:78043369	Conflicting classifications of pathogenicity	Condition: not provided Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3	Criteria Provided Conflicting Classifications		rs_781912153	2 SubmittersRCV001766948 RCV003107841
NM_002860.4(ALDH18A1):c.1172A>G (p.His391Arg)	SNV Germline	Chr10:95625436	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Autosomal dominant spastic paraplegia type 9 de Barsy syndrome Cutis laxa, autosomal dominant 3	Criteria Provided Conflicting Classifications		rs_774081826	3 SubmittersRCV001754831 RCV003247013 RCV003771983
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp)	SNV Germline	ChrX:78013019	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Conflicting Classifications		rs_1443260520	2 SubmittersRCV001754856 RCV003771984
NM_000052.7(ATP7A):c.2557G>T (p.Gly853Ter)	SNV Unknown	ChrX:78015812	Likely pathogenic	Cutis laxa, X-linked	Criteria Provided Single Submitter		rs_2149097380	1 SubmittersRCV001775413
NM_003573.2(LTBP4):c.76-1G>A	SNV Germline	Chr19:40599401	Pathogenic	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Criteria Provided Single Submitter		rs_781735457	1 SubmittersRCV001783619
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val)	SNV Germline	ChrX:77998615	Conflicting classifications of pathogenicity	Condition: not provided X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications		rs_781874593	2 SubmittersRCV001786873 RCV002544302
NM_000158.4(GBE1):c.1459G>T (p.Asp487Tyr)	SNV Germline	Chr3:81578084	Likely pathogenic	Cutis laxa, autosomal recessive, type 1B	Criteria Provided Single Submitter		rs_2106933976	1 SubmittersRCV001806324
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter)	SNV Germline	Chr19:40611370	Conflicting classifications of pathogenicity	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Criteria Provided Conflicting Classifications		rs_2146029786	2 SubmittersRCV001808882
NM_002860.4(ALDH18A1):c.1335C>T (p.Ala445=)	SNV Germline	Chr10:95621163	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 de Barsy syndrome	Criteria Provided Conflicting Classifications		rs_771965130	2 SubmittersRCV001848330 RCV003772376
NM_002860.4(ALDH18A1):c.454-9A>G	SNV Germline	Chr10:95637206	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 de Barsy syndrome	Criteria Provided Conflicting Classifications		rs_775098819	2 SubmittersRCV001848354 RCV003772377
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile)	SNV Germline	ChrX:78038919	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782026169	2 SubmittersRCV001892794 RCV002458720
NM_000052.7(ATP7A):c.2498+2T>G	SNV Germline	ChrX:78014755	Likely pathogenic	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Single Submitter		rs_797045357	1 SubmittersRCV002019219
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)	SNV Germline	Chr7:74057655	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Williams syndrome Supravalvar aortic stenosis Condition: not provided ELN-related disorder	Criteria Provided Conflicting Classifications		rs_149117932	4 SubmittersRCV001947909 RCV002479410 RCV003149006 RCV004538614
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter)	SNV Germline	ChrX:78012892	Pathogenic	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Single Submitter		rs_2149095968	1 SubmittersRCV002044567
NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser)	SNV Germline	ChrX:77989728	Conflicting classifications of pathogenicity	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1557231866	2 SubmittersRCV001887486 RCV002469424
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys)	SNV Germline	ChrX:77989382	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Condition: not provided	Criteria Provided Conflicting Classifications		rs_374855698	2 SubmittersRCV001878801 RCV002285509
NM_000052.7(ATP7A):c.2172+5G>A	SNV Germline	ChrX:78011679	Likely pathogenic	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3	Criteria Provided Single Submitter		rs_797045347	1 SubmittersRCV002049796
NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu)	SNV Germline	ChrX:77988536	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications		rs_1557231629	2 SubmittersRCV002036443 RCV004546698
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln)	SNV Germline	ChrX:78011213	Conflicting classifications of pathogenicity	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1557234412	2 SubmittersRCV001944995 RCV002407069
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter)	SNV Germline	ChrX:77989424	Pathogenic	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Single Submitter		rs_2149083118	1 SubmittersRCV001898748
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter)	SNV Germline	ChrX:78038884	Pathogenic	Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Menkes kinky-hair syndrome	Criteria Provided Single Submitter		rs_2149109587	2 SubmittersRCV001951484 RCV003312030
NM_002860.4(ALDH18A1):c.933+1G>A	SNV Germline	Chr10:95628367	Likely pathogenic	Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9 de Barsy syndrome	Criteria Provided Single Submitter		rs_2139593958	1 SubmittersRCV003773210
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp)	SNV Germline	ChrX:78046430	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1457236338	3 SubmittersRCV001907023 RCV003490929 RCV004042729
NM_006907.4(PYCR1):c.540+1G>T	SNV Germline	Chr17:81934925	Likely pathogenic	Autosomal recessive cutis laxa type 2B	Criteria Provided Single Submitter		rs_752297179	1 SubmittersRCV002052152
NM_006907.4(PYCR1):c.556G>T (p.Asp186Tyr)	SNV Germline	Chr17:81934730	Likely pathogenic	Autosomal recessive cutis laxa type 2B	Criteria Provided Single Submitter		rs_2143872369	1 SubmittersRCV002052265
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu)	SNV Germline	ChrX:77971724	Conflicting classifications of pathogenicity	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782146244	2 SubmittersRCV002202210 RCV003161390
NM_000052.7(ATP7A):c.3511+8A>C	SNV Germline	ChrX:78033829	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Menkes kinky-hair syndrome	Criteria Provided Conflicting Classifications		rs_2149107265	2 SubmittersRCV002076413 RCV002471255
NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val)	SNV Germline	ChrX:77989763	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Menkes kinky-hair syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1349223430	2 SubmittersRCV002096014 RCV003327553
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val)	SNV Germline	ChrX:78009150	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Condition: not provided	Criteria Provided Conflicting Classifications		rs_782444523	2 SubmittersRCV002110373 RCV003146516
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu)	SNV Germline	ChrX:78040707	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782428979	2 SubmittersRCV002134070 RCV002363673
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys)	SNV Germline	ChrX:78038857	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1557238006	2 SubmittersRCV002090753 RCV002993470
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val)	SNV Germline	ChrX:78012993	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Conflicting Classifications		rs_2077837721	3 SubmittersRCV002259442 RCV003164367 RCV003774800
NM_000052.7(ATP7A):c.120+7T>C	SNV Germline	ChrX:77971768	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Conflicting Classifications		rs_2149073895	2 SubmittersRCV002273022 RCV003096147
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=)	SNV Germline	ChrX:77998515	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Conflicting Classifications		rs_2077718812	2 SubmittersRCV002278082 RCV003101590
NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val)	SNV Germline	ChrX:78011651	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Conflicting Classifications		rs_1557234537	2 SubmittersRCV002278119 RCV003774911
NM_002860.4(ALDH18A1):c.408C>A (p.Ser136Arg)	SNV Germline	Chr10:95637332	Likely pathogenic	Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 de Barsy syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003774999
NM_000052.7(ATP7A):c.526A>T (p.Lys176Ter)	SNV Unknown	ChrX:77988647	Likely pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002306585
NM_000052.7(ATP7A):c.2110C>T (p.Gln704Ter)	SNV Unknown	ChrX:78011612	Likely pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002306641
NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter)	SNV Unknown	ChrX:77988414	Likely pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002307916
NM_000052.7(ATP7A):c.4040T>A (p.Leu1347Ter)	SNV Unknown	ChrX:78043351	Likely pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002308371
NM_000052.7(ATP7A):c.2224A>T (p.Lys742Ter)	SNV Unknown	ChrX:78012930	Likely pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002309199
NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter)	SNV Unknown	ChrX:78043354	Likely pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002309249
NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter)	SNV Unknown	ChrX:78009162	Likely pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002306848
NM_000052.7(ATP7A):c.3013G>T (p.Gly1005Ter)	SNV Unknown	ChrX:78029346	Likely pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002307152
NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter)	SNV Unknown	ChrX:78042636	Likely pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002310312
NM_000052.7(ATP7A):c.520A>T (p.Lys174Ter)	SNV Unknown	ChrX:77988641	Likely pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002310349
NM_000052.7(ATP7A):c.349A>T (p.Lys117Ter)	SNV Unknown	ChrX:77988470	Likely pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002310403
NM_000052.7(ATP7A):c.3289A>T (p.Lys1097Ter)	SNV Unknown	ChrX:78031577	Likely pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002310436
NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter)	SNV Unknown	ChrX:77988533	Likely pathogenic	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002310520
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)	SNV Germline	ChrX:78031404	Conflicting classifications of pathogenicity	Inborn genetic diseases Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV002320433 RCV003099210
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)	SNV Germline	ChrX:78003147	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3	Criteria Provided Conflicting Classifications			3 SubmittersRCV003988006 RCV002401012 RCV003097014
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)	SNV Germline	ChrX:78009251	Conflicting classifications of pathogenicity	Inborn genetic diseases Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV002413112 RCV003097300
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)	SNV Germline	ChrX:78012957	Conflicting classifications of pathogenicity	Inborn genetic diseases Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV002443551 RCV003101168 RCV003318724
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)	SNV Germline	ChrX:78014719	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003101848 RCV002455503
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)	SNV Germline	ChrX:77988402	Conflicting classifications of pathogenicity	Inborn genetic diseases Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Conflicting Classifications			2 SubmittersRCV002441801 RCV003102753
NM_001042545.2(LTBP4):c.1426+1G>T	SNV Germline	Chr19:40608604	Likely pathogenic	Cutis laxa	Criteria Provided Single Submitter			1 SubmittersRCV002470046
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)	SNV Germline	ChrX:77988620	Pathogenic	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome	Criteria Provided Single Submitter			2 SubmittersRCV003064740 RCV003312069
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)	SNV Germline	ChrX:78045499	Pathogenic	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome	Criteria Provided Single Submitter			2 SubmittersRCV003050627 RCV003312071
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)	SNV Germline	ChrX:78012948	Conflicting classifications of pathogenicity	X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Cutis laxa, X-linked Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV003084952 RCV003333231 RCV003333232 RCV003333233
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)	SNV Germline	Chr10:95643063	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 3 Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9 de Barsy syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003314750 RCV003777571
NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr)	SNV Germline	ChrX:77971697	Conflicting classifications of pathogenicity	Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Menkes kinky-hair syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002664044 RCV004072109
NM_006907.4(PYCR1):c.151A>T (p.Lys51Ter)	SNV Germline	Chr17:81935504	Likely pathogenic	Cutis laxa	Criteria Provided Single Submitter			1 SubmittersRCV002510435
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)	SNV Germline	ChrX:77989878	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002775832 RCV003146631
NM_002860.4(ALDH18A1):c.1152+1G>A	SNV Germline	Chr10:95626702	Likely pathogenic	Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9 de Barsy syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003777006
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)	SNV Germline	ChrX:77988290	Pathogenic	Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3	Criteria Provided Single Submitter			1 SubmittersRCV002820783
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)	SNV Germline	ChrX:77989907	Pathogenic	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002871867
NM_000052.7(ATP7A):c.610+2T>C	SNV Germline	ChrX:77988733	Likely pathogenic	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002866988
NM_002860.4(ALDH18A1):c.1993C>T (p.Arg665Ter)	SNV Germline	Chr10:95611373	Pathogenic	Autosomal dominant spastic paraplegia type 9 de Barsy syndrome Cutis laxa, autosomal dominant 3	Criteria Provided Single Submitter			1 SubmittersRCV003777028
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)	SNV Germline	ChrX:78011251	Pathogenic	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked	Criteria Provided Single Submitter			1 SubmittersRCV002953115
NM_016938.5(EFEMP2):c.247C>T (p.Arg83Cys)	SNV Germline	Chr11:65871277	Likely pathogenic	Cutis laxa, autosomal recessive, type 1B	Criteria Provided Single Submitter			1 SubmittersRCV003128367
NM_001042545.2(LTBP4):c.3298C>T (p.Arg1100Ter)	SNV Germline	Chr19:40622481	Likely pathogenic	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Criteria Provided Single Submitter			1 SubmittersRCV003225799
NM_002860.4(ALDH18A1):c.377G>A (p.Arg126His)	SNV Germline	Chr10:95637363	Likely pathogenic	Cutis laxa, autosomal dominant 3	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003142512
NM_001042545.2(LTBP4):c.608T>A (p.Leu203Ter)	SNV Germline	Chr19:40605570	Likely pathogenic	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Criteria Provided Single Submitter			1 SubmittersRCV003221330
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)	SNV Germline	ChrX:78029444	Pathogenic	Menkes kinky-hair syndrome Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3	Criteria Provided Single Submitter			2 SubmittersRCV003312827 RCV003777273
NM_000052.7(ATP7A):c.4005+5G>A	SNV Germline	ChrX:78042793	Likely pathogenic	Menkes kinky-hair syndrome Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3	Criteria Provided Single Submitter			2 SubmittersRCV003312872 RCV003777274
NM_000052.7(ATP7A):c.1544-872C>G	SNV Germline	ChrX:78002201	Pathogenic	Cutis laxa, X-linked	No Assertion Criteria Provided			1 SubmittersRCV003388229
NM_001690.4(ATP6V1A):c.299A>T (p.Asp100Val)	SNV Germline	Chr3:113784311	Likely pathogenic	Epileptic encephalopathy, infantile or early childhood, 3 Autosomal recessive cutis laxa type 2D	Criteria Provided Single Submitter			1 SubmittersRCV003389392
NM_016938.5(EFEMP2):c.368-2A>G	SNV Germline	Chr11:65870660	Likely pathogenic	Cutis laxa, autosomal recessive, type 1B	Criteria Provided Single Submitter			1 SubmittersRCV003644188
NM_001042545.2(LTBP4):c.1045G>C (p.Gly349Arg)	SNV Germline	Chr19:40607418	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Criteria Provided Conflicting Classifications			2 SubmittersRCV003733976 RCV004546807
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)	SNV Germline	ChrX:78011555	Pathogenic	Menkes kinky-hair syndrome Cutis laxa, X-linked X-linked distal spinal muscular atrophy type 3	Criteria Provided Single Submitter			1 SubmittersRCV003782762
NM_000052.7(ATP7A):c.2305A>G (p.Met769Val)	SNV Germline	ChrX:78013011	Conflicting classifications of pathogenicity	Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3 Cutis laxa, X-linked ATP7A-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV003788296 RCV003919381
NM_002860.4(ALDH18A1):c.1468-2A>C	SNV Germline	Chr10:95616616	Likely pathogenic	Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9 de Barsy syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003799951
NM_016938.5(EFEMP2):c.976C>G (p.Arg326Gly)	SNV Germline	Chr11:65868055	Pathogenic	Cutis laxa, autosomal recessive, type 1B	Criteria Provided Single Submitter			1 SubmittersRCV003990639
NM_016938.5(EFEMP2):c.1009C>T (p.Arg337Ter)	SNV Germline	Chr11:65868022	Likely pathogenic	Cutis laxa	Criteria Provided Single Submitter			1 SubmittersRCV004018137

NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)

SNV
Germline

Chr12:123754537

Pathogenic

Cutis laxa with osteodystrophy

No Assertion Criteria Provided

CA339834

rs_80356758

2 SubmittersRCV000000887

NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)

SNV
Germline

Chr12:123718692

Pathogenic

Cutis laxa with osteodystrophy
Condition: not provided
Alpha-1-antitrypsin deficiency
ALG9 congenital disorder of glycosylation
Cutis laxa

Criteria Provided
Multiple Submitters
No Conflicts

CA223052

rs_80356750

5 SubmittersRCV000000888 RCV000790836 RCV004526587 RCV003502506 RCV004579513

NM_001042545.2(LTBP4):c.2481C>A (p.Cys827Ter)

SNV
Germline

Chr19:40613453

Pathogenic

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

No Assertion Criteria Provided

CA117505

rs_267607228

1 SubmittersRCV000005728

NM_001042545.2(LTBP4):c.730T>G (p.Cys244Gly)

SNV
Germline

Chr19:40605768

Pathogenic

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

No Assertion Criteria Provided

CA117509

rs_267607229

1 SubmittersRCV000005729

NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys)

SNV
Germline

Chr11:65871355

Pathogenic

Cutis laxa, autosomal recessive, type 1B
Cutis laxa, autosomal recessive, type 1A

No Assertion Criteria Provided

CA281558

rs_119489101

2 SubmittersRCV000005756 RCV000032268

NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)

SNV
Germline

Chr11:65868522

Likely pathogenic

Cutis laxa, autosomal recessive, type 1B
Cutis laxa, autosomal recessive, type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA281559

rs_119489102

4 SubmittersRCV000005757 RCV000032275

NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro)

SNV
Germline

Chr14:91887253

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1A
Cutis laxa, autosomal dominant

No Assertion Criteria Provided

CA340430

rs_28939370

3 SubmittersRCV000005809 RCV003447068

NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)

SNV
Germline

Chr16:16163078

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
Condition: not provided
Cutis laxa
Papule
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Arterial calcification, generalized, of infancy, 2
See cases
ABCC6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA129115

rs_72653706

24 SubmittersRCV000006937 RCV000023272 RCV000254838 RCV000415101 RCV000762959 RCV002251886 RCV002291267

NM_000052.7(ATP7A):c.2497A>G (p.Ser833Gly)

SNV
Germline

ChrX:78014752

Conflicting classifications of pathogenicity

Cutis laxa, X-linked

No Assertion Criteria Provided

rs_2149096859

2 SubmittersRCV000012548

NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu)

SNV
Germline

ChrX:78011216

Pathogenic

Cutis laxa, X-linked
Menkes kinky-hair syndrome

Criteria Provided
Single Submitter

CA256065

rs_151340631

3 SubmittersRCV000012549 RCV000195239

NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)

SNV
Germline

ChrX:78029271

Pathogenic

Menkes kinky-hair syndrome
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA256067

rs_72554649

4 SubmittersRCV000012551 RCV001851805

NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)

SNV
Germline

ChrX:78042694

Pathogenic

Cutis laxa, X-linked
Menkes kinky-hair syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256071

rs_151340632

4 SubmittersRCV000012559 RCV000194377 RCV003238723

NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)

SNV
Germline

ChrX:77988722

Pathogenic

Menkes kinky-hair syndrome
Condition: not provided
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA256073

rs_151340633

6 SubmittersRCV000012560 RCV000725792 RCV001231166

NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)

SNV
Germline

ChrX:78045502

Pathogenic

X-linked distal spinal muscular atrophy type 3
Charcot-Marie-Tooth disease
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome

Criteria Provided
Single Submitter

CA256077

rs_267606672

4 SubmittersRCV000012562 RCV000789728 RCV001206423 RCV001696176

NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)

SNV
Germline

Chr17:81934326

Pathogenic

Autosomal recessive cutis laxa type 2B
Cutis laxa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA122950

rs_121918374

7 SubmittersRCV000014078 RCV000779237 RCV000489299 RCV000624605

NM_006907.4(PYCR1):c.616G>T (p.Gly206Trp)

SNV
Germline

Chr17:81934670

Pathogenic

Autosomal recessive cutis laxa type 2B

No Assertion Criteria Provided

CA122952

rs_121918375

1 SubmittersRCV000014079

NM_006907.4(PYCR1):c.355C>G (p.Arg119Gly)

SNV
Germline

Chr17:81935111

Pathogenic

Autosomal recessive cutis laxa type 2B

No Assertion Criteria Provided

CA122954

rs_121918376

1 SubmittersRCV000014083

NM_006907.4(PYCR1):c.356G>A (p.Arg119His)

SNV
Germline

Chr17:81935110

Pathogenic/Likely pathogenic

Autosomal recessive cutis laxa type 2B
PYCR1-related de Barsy syndrome
Condition: not provided
Wiedemann-Rautenstrauch-like progeroid syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA122956

rs_121918377

6 SubmittersRCV000014084 RCV000761519 RCV001543486 RCV001291133

NM_006907.4(PYCR1):c.752G>A (p.Arg251His)

SNV
Germline

Chr17:81934371

Pathogenic/Likely pathogenic

PYCR1-related de Barsy syndrome
Condition: not provided
Inborn genetic diseases
Cutis laxa

Criteria Provided
Multiple Submitters
No Conflicts

CA122958

rs_121918378

5 SubmittersRCV000014085 RCV001582480 RCV002513035 RCV003114191

NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)

SNV
Germline

Chr14:91877501

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1A
Cutis laxa, autosomal dominant

No Assertion Criteria Provided

CA342095

rs_80338767

3 SubmittersRCV000020639 RCV003447087

NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)

SNV
Germline

Chr14:91891236

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1A
Macular degeneration, age-related, 3
Condition: not provided
Cutis laxa
Cutis laxa, autosomal dominant

Criteria Provided
Conflicting Classifications

CA342101

rs_80338765

6 SubmittersRCV000020641 RCV000316304 RCV000427840 RCV000375520 RCV003447088

NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg)

SNV
Germline

Chr14:91887283

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1A
Cutis laxa, autosomal dominant

No Assertion Criteria Provided

CA342104

rs_80338766

3 SubmittersRCV000020642 RCV003447089

NM_012463.4(ATP6V0A2):c.294+1G>A

SNV
Germline

Chr12:123722449

Pathogenic

Wrinkly skin syndrome
Cutis laxa with osteodystrophy

No Assertion Criteria Provided

CA342137

rs_80356751

3 SubmittersRCV000000889 RCV000020688

NM_012463.4(ATP6V0A2):c.732-2A>G

SNV
Germline

Chr12:123735529

Pathogenic

Cutis laxa with osteodystrophy
Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA342139

rs_80356753

3 SubmittersRCV000020690 RCV002281042 RCV003502507

NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr)

SNV
Germline

Chr11:65867061

Pathogenic

Cutis laxa, autosomal recessive, type 1A
Cutis laxa, autosomal recessive, type 1B

No Assertion Criteria Provided

CA281918

rs_193302868

2 SubmittersRCV000032266 RCV000033128

NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)

SNV
Germline

Chr11:65870650

Pathogenic/Likely pathogenic

Cutis laxa, autosomal recessive, type 1A
Cutis laxa, autosomal recessive, type 1B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA281914

rs_193302867

8 SubmittersRCV000032269 RCV000033125 RCV000724423

NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val)

SNV
Germline

Chr11:65870649

Pathogenic

Cutis laxa, autosomal recessive, type 1A
Cutis laxa, autosomal recessive, type 1B

No Assertion Criteria Provided

CA281916

rs_193302869

2 SubmittersRCV000032270 RCV000033126

NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)

SNV
Germline

Chr11:65869976

Pathogenic/Likely pathogenic

Cutis laxa, autosomal recessive, type 1A
Cutis laxa, autosomal recessive, type 1B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA282144

rs_193302864

5 SubmittersRCV000032272 RCV000034873 RCV003332092

NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)

SNV
Germline

Chr11:65868557

Pathogenic

Cutis laxa, autosomal recessive, type 1B
Cutis laxa, autosomal recessive, type 1A

No Assertion Criteria Provided

CA281758

rs_193302866

2 SubmittersRCV000023384 RCV000032274

NM_001042545.2(LTBP4):c.1252C>T (p.Arg418Ter)

SNV
Germline

Chr19:40608315

Pathogenic

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

No Assertion Criteria Provided

CA130695

rs_397515430

1 SubmittersRCV000033129

NM_001042545.2(LTBP4):c.4039C>T (p.Arg1347Ter)

SNV
Germline

Chr19:40627028

Pathogenic

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

No Assertion Criteria Provided

rs_1382026467

1 SubmittersRCV000033131

NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys)

SNV
Germline

Chr11:65869905

Pathogenic

Cutis laxa, autosomal recessive, type 1B

Criteria Provided
Single Submitter

CA282146

rs_397514683

2 SubmittersRCV000034874

NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg)

SNV
Germline

Chr17:81934670

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive cutis laxa type 2B
Abnormality of connective tissue

Criteria Provided
Multiple Submitters
No Conflicts

CA219960

rs_121918375

5 SubmittersRCV000059738 RCV004017383 RCV001814045

NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=)

SNV
Germline

Chr12:123727864

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_181112338

2 SubmittersRCV001114577 RCV002054920

NM_012463.4(ATP6V0A2):c.1514+1G>A

SNV
Germline

Chr12:123744785

Pathogenic/Likely pathogenic

Condition: not provided
Wrinkly skin syndrome
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA223051

rs_374480381

4 SubmittersRCV000174367 RCV002498429 RCV003502514

NM_000501.4(ELN):c.1150+1G>A

SNV
Germline

Chr7:74054770

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Condition: not provided
Hypertelorism
Dural ectasia
Venous malformation
Abnormal digit morphology
Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
not specified

Criteria Provided
Conflicting Classifications

CA281474

rs_727503030

9 SubmittersRCV000150639 RCV000200273 RCV000626794 RCV000660643 RCV002247549

NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)

SNV
Germline

Chr12:123744756

Conflicting classifications of pathogenicity

not specified
Cutis laxa with osteodystrophy
Condition: not provided
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA208571

rs_143142641

10 SubmittersRCV000194414 RCV000322153 RCV000723907 RCV001088927 RCV003895048 RCV003338429

NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)

SNV
Germline

Chr12:123754473

Conflicting classifications of pathogenicity

Cutis laxa, recessive
Condition: not provided
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

CA241054

rs_150508296

7 SubmittersRCV000364298 RCV000724863 RCV001087624 RCV003907567

NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)

SNV
Germline

ChrX:78011572

Conflicting classifications of pathogenicity

not specified
History of neurodevelopmental disorder
Condition: not provided
Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Conflicting Classifications

CA207130

rs_146692150

6 SubmittersRCV000193566 RCV000721073 RCV000724715 RCV001274233 RCV001086885

NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)

SNV
Germline

Chr12:123754482

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

CA209642

rs_138886791

8 SubmittersRCV000195070 RCV000871111 RCV001109061 RCV001088570 RCV003917736

NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)

SNV
Germline

ChrX:77989847

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

CA277324

rs_72554636

4 SubmittersRCV000194461 RCV001857688

NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)

SNV
Germline

ChrX:77998657

Conflicting classifications of pathogenicity

not specified
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome
Condition: not provided
Ehlers-Danlos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206236

rs_143907597

9 SubmittersRCV000193020 RCV000534012 RCV001274230 RCV001573423 RCV002277449 RCV002314787

NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)

SNV
Germline

ChrX:78003168

Pathogenic

Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Multiple Submitters
No Conflicts

CA277370

rs_797045332

5 SubmittersRCV000194736 RCV000807620

NM_000052.7(ATP7A):c.1870-1G>C

SNV
Germline

ChrX:78011175

Pathogenic

Menkes kinky-hair syndrome
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA277439

rs_797045338

3 SubmittersRCV000195126 RCV003765212

NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)

SNV
Germline

ChrX:78011180

Pathogenic

Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Multiple Submitters
No Conflicts

CA277093

rs_797045339

3 SubmittersRCV000193177 RCV002517056

NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)

SNV
Germline

ChrX:78011239

Pathogenic

Menkes kinky-hair syndrome
Condition: not provided
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA277101

rs_72554640

7 SubmittersRCV000193235 RCV000757017 RCV001271473

NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)

SNV
Germline

ChrX:78011498

Pathogenic

Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Multiple Submitters
No Conflicts

CA277408

rs_797045344

4 SubmittersRCV000194915 RCV001330731

NM_000052.7(ATP7A):c.2172+5G>C

SNV
Germline

ChrX:78011679

Pathogenic/Likely pathogenic

Menkes kinky-hair syndrome
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA277221

rs_797045347

3 SubmittersRCV000193917 RCV001044291

NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)

SNV
Germline

ChrX:78012885

Pathogenic

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277238

rs_72554644

5 SubmittersRCV000193991 RCV001857689 RCV002517916 RCV003227709

NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)

SNV
Germline

ChrX:78013089

Pathogenic

Menkes kinky-hair syndrome
Condition: not provided
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA277113

rs_72554645

6 SubmittersRCV000193280 RCV000578755 RCV001274025

NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)

SNV
Germline

ChrX:78021066

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
not specified
Condition: not provided
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Ehlers-Danlos syndrome
ATP7A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA277041

rs_138958687

11 SubmittersRCV000192884 RCV000999938 RCV000757015 RCV001085085 RCV002277450 RCV003907676 RCV002433862

NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)

SNV
Germline

ChrX:78029289

Pathogenic

Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277137

rs_72554650

5 SubmittersRCV000193405 RCV002517917 RCV003231369

NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)

SNV
Germline

ChrX:78029335

Likely pathogenic

Menkes kinky-hair syndrome
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA277255

rs_797045365

3 SubmittersRCV000194077 RCV000543168

NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)

SNV
Germline

ChrX:78042714

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Ehlers-Danlos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA208759

rs_139781067

6 SubmittersRCV000194531 RCV000527923 RCV001081638 RCV002277451 RCV002372162

NM_000052.7(ATP7A):c.4005+1G>T

SNV
Germline

ChrX:78042789

Pathogenic/Likely pathogenic

Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Multiple Submitters
No Conflicts

CA277169

rs_797045391

3 SubmittersRCV000193560 RCV001852548

NM_000501.4(ELN):c.326G>A (p.Gly109Asp)

SNV
Germline

Chr7:74042984

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA320313

rs_145519139

3 SubmittersRCV000462325 RCV000272510 RCV001531043

NM_000501.4(ELN):c.647G>T (p.Gly216Val)

SNV
Germline

Chr7:74047678

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Condition: not provided
Cutis laxa, autosomal dominant 1
Williams syndrome
Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1

Criteria Provided
Conflicting Classifications

CA324493

rs_145612009

6 SubmittersRCV000531891 RCV000728083 RCV000765972 RCV001161674

NM_000501.4(ELN):c.659C>T (p.Pro220Leu)

SNV
Germline

Chr7:74047690

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA322484

rs_201012726

4 SubmittersRCV000198008 RCV000279620 RCV000334634

NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)

SNV
Germline

Chr7:74065699

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Condition: not provided
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA321710

rs_142316834

8 SubmittersRCV000351619 RCV000405378 RCV001579602 RCV004530153

NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)

SNV
Germline

Chr10:95606856

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Abnormality of the nervous system
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome

Criteria Provided
Conflicting Classifications

CA210009

rs_537043237

4 SubmittersRCV000196978 RCV001814103 RCV003765290

NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His)

SNV
Germline

Chr10:95610260

Likely pathogenic

Autosomal recessive complex spastic paraplegia type 9B
Cutis laxa, autosomal dominant 3
Cutis laxa, autosomal dominant 3
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA280922

rs_752669339

3 SubmittersRCV000200955 RCV001198042 RCV003765291

NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)

SNV
Germline

Chr10:95633012

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 9A
Condition: not provided
ALDH18A1 deficiency
Cutis laxa, autosomal dominant 3
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA347466

rs_864321670

7 SubmittersRCV000200959 RCV000761744 RCV001095737 RCV003765292

NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)

SNV
Germline

Chr10:95637381

Pathogenic

Hereditary spastic paraplegia 9A
Cutis laxa, autosomal dominant 3
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Single Submitter

CA279055

rs_863224945

2 SubmittersRCV000200954 RCV003765293

NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His)

SNV
Germline

Chr10:95637357

Conflicting classifications of pathogenicity

Autosomal recessive complex spastic paraplegia type 9B
Condition: not provided
Cutis laxa, autosomal dominant 3
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Conflicting Classifications

CA215054

rs_768323248

3 SubmittersRCV000200953 RCV000484074 RCV003765294

NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)

SNV
Germline

Chr10:95637328

Pathogenic

Cutis laxa, autosomal dominant 3
Condition: not provided
Hereditary spastic paraplegia 9A
Autosomal recessive complex spastic paraplegia type 9B
Cutis laxa, autosomal dominant 3
ALDH18A1-related de Barsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279130

rs_863225044

5 SubmittersRCV000201215 RCV000481980 RCV003883142

NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)

SNV
Germline

Chr10:95637327

Pathogenic

Cutis laxa, autosomal dominant 3
Condition: not provided
Cutis laxa, autosomal dominant 3
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
ALDH18A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA279126

rs_863225045

4 SubmittersRCV000201213 RCV003236787 RCV003765295 RCV004530202

NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu)

SNV
Germline

Chr10:95637327

Pathogenic

Cutis laxa, autosomal dominant 3
ALDH18A1-related de Barsy syndrome

Criteria Provided
Single Submitter

CA279128

rs_863225045

2 SubmittersRCV000201214 RCV000856780

NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)

SNV
Germline

Chr14:91937058

Conflicting classifications of pathogenicity

Macular degeneration, age-related, 3
Condition: not provided
Cutis laxa
Cutis laxa, autosomal recessive, type 1A
Cutis laxa, autosomal dominant 2
Charcot-Marie-Tooth disease, demyelinating, IIA 1H
Hereditary sensorimotor neuropathy with hyperelastic skin

Criteria Provided
Conflicting Classifications

CA213355

rs_144288844

8 SubmittersRCV000202614 RCV000521928 RCV001121879 RCV001249315 RCV001843303 RCV003447125

NM_006329.4(FBLN5):c.376G>A (p.Val126Met)

SNV
Germline

Chr14:91936950

Conflicting classifications of pathogenicity

Macular degeneration, age-related, 3
Cutis laxa
Condition: not provided
Charcot-Marie-Tooth disease, demyelinating, IIA 1H
FBLN5-related disorder

Criteria Provided
Conflicting Classifications

CA213354

rs_61734479

8 SubmittersRCV000202603 RCV000405354 RCV000584853 RCV001843304 RCV003917823

NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu)

SNV
Germline

ChrX:78011495

Conflicting classifications of pathogenicity

Condition: not provided
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

CA10584646

rs_879254156

2 SubmittersRCV000237067 RCV002518449

NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)

SNV
Germline

ChrX:78015786

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10459291

rs_367775730

6 SubmittersRCV000529093 RCV001085537 RCV003311726 RCV002450718

NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)

SNV
Germline

ChrX:78038889

Conflicting classifications of pathogenicity

not specified
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Ehlers-Danlos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10459435

rs_368917354

4 SubmittersRCV000236093 RCV000878391 RCV002277594 RCV002450722

NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)

SNV
Germline

ChrX:78043377

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Ehlers-Danlos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10459496

rs_370736173

8 SubmittersRCV000235848 RCV000784893 RCV001084874 RCV002277595 RCV002321900

NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln)

SNV
Germline

ChrX:78046431

Conflicting classifications of pathogenicity

not specified
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

CA10459548

rs_147848649

2 SubmittersRCV000236986 RCV000877920

NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp)

SNV
Germline

Chr17:81935132

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive cutis laxa type 2B
PYCR1-related de Barsy syndrome
Cutis laxa

Criteria Provided
Conflicting Classifications

CA8845466

rs_147653673

6 SubmittersRCV000512801 RCV000764150 RCV001125517

NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg)

SNV
Germline

ChrX:78009115

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

CA10459092

rs_782076879

2 SubmittersRCV000385771 RCV001859571

NM_000501.4(ELN):c.470-10C>G

SNV
Germline

Chr7:74045212

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4292514

rs_200663056

4 SubmittersRCV000338429 RCV000408115 RCV000725265

NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)

SNV
Germline

ChrX:78011457

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10459180

rs_143214563

6 SubmittersRCV000725407 RCV001085214 RCV002314011

NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)

SNV
Germline

ChrX:78043317

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10459493

rs_146651049

6 SubmittersRCV000725408 RCV001080192 RCV002314012

NM_012463.4(ATP6V0A2):c.522-9G>A

SNV
Germline

Chr12:123727774

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

CA6861659

rs_189175284

4 SubmittersRCV000277913 RCV000399420 RCV002059154 RCV003920076

NM_000052.7(ATP7A):c.1734C>T (p.Cys578=)

SNV
Germline

ChrX:78009128

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

CA10459097

rs_72554638

3 SubmittersRCV000368289 RCV001078732 RCV001833356

NM_006329.4(FBLN5):c.621T>C (p.Asp207=)

SNV
Germline

Chr14:91887311

Conflicting classifications of pathogenicity

Cutis laxa
Macular degeneration, age-related, 3
Condition: not provided
FBLN5-related disorder

Criteria Provided
Conflicting Classifications

CA7312778

rs_200178859

5 SubmittersRCV000264837 RCV000324728 RCV000390841 RCV003909996

NM_000501.4(ELN):c.328G>A (p.Ala110Thr)

SNV
Germline

Chr7:74042986

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided
Familial atrioventricular septal defect
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4292446

rs_137953195

6 SubmittersRCV000327769 RCV000382394 RCV000492857 RCV000984480 RCV004530459

NM_000501.4(ELN):c.861G>A (p.Gly287=)

SNV
Germline

Chr7:74051811

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Condition: not provided
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4292726

rs_368610108

7 SubmittersRCV000313561 RCV000471889 RCV001579470 RCV004530460

NM_000501.4(ELN):c.1281C>T (p.Pro427=)

SNV
Germline

Chr7:74056401

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA4292915

rs_376496267

2 SubmittersRCV000291392 RCV000385690

NM_000501.4(ELN):c.163+13A>G

SNV
Germline

Chr7:74036597

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA4292322

rs_782388951

2 SubmittersRCV000260411 RCV000355248

NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)

SNV
Germline

Chr7:74063191

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4293244

rs_200133966

4 SubmittersRCV000285328 RCV000381857 RCV001556564 RCV004022054

NM_000501.4(ELN):c.930C>T (p.Ala310=)

SNV
Germline

Chr7:74051964

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant
Condition: not provided
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4292767

rs_147367888

5 SubmittersRCV000269825 RCV000324956 RCV000659073 RCV004544695

NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)

SNV
Germline

Chr7:74056354

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4292902

rs_375116795

3 SubmittersRCV000305970 RCV000360713 RCV001551670

NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)

SNV
Germline

Chr7:74063312

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4293267

rs_150404125

8 SubmittersRCV000281338 RCV000338747 RCV001579838 RCV004544696

NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)

SNV
Germline

Chr7:74065988

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4293372

rs_369804770

3 SubmittersRCV000311994 RCV000369053 RCV000443075

NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)

SNV
Germline

Chr7:74063360

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Williams syndrome
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4293282

rs_536177240

4 SubmittersRCV000298998 RCV000407993 RCV001198806 RCV004544697

NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=)

SNV
Germline

Chr10:95614027

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome

Criteria Provided
Conflicting Classifications

CA5620240

rs_139035272

2 SubmittersRCV000308127 RCV003765775

NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=)

SNV
Germline

Chr10:95616486

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Condition: not provided
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome

Criteria Provided
Conflicting Classifications

CA5620278

rs_200730342

3 SubmittersRCV000273737 RCV001697655 RCV003765776

NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)

SNV
Germline

Chr10:95621190

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Condition: not provided
ALDH18A1-related disorder
Hereditary spastic paraplegia
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome

Criteria Provided
Conflicting Classifications

CA5620356

rs_144816455

6 SubmittersRCV000263281 RCV001697656 RCV004537703 RCV001848078 RCV003765779

NM_016938.5(EFEMP2):c.977G>A (p.Arg326His)

SNV
Germline

Chr11:65868054

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, autosomal recessive, type 1B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6110443

rs_141868759

6 SubmittersRCV000658599 RCV001080329 RCV002379175

NM_016938.5(EFEMP2):c.99C>T (p.Pro33=)

SNV
Germline

Chr11:65872256

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cutis laxa, autosomal recessive, type 1B
not specified

Criteria Provided
Conflicting Classifications

CA6110789

rs_140946753

4 SubmittersRCV002379176 RCV000873647 RCV003330638

NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=)

SNV
Germline

Chr12:123722418

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
Condition: not provided
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

CA6861539

rs_139785866

4 SubmittersRCV000394202 RCV000884990 RCV002056276 RCV003967885

NM_002860.4(ALDH18A1):c.2110+13A>G

SNV
Germline

Chr10:95611243

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
not specified
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome

Criteria Provided
Conflicting Classifications

CA5620150

rs_375782465

3 SubmittersRCV000339674 RCV000599722 RCV003765770

NM_002860.4(ALDH18A1):c.933+14G>A

SNV
Germline

Chr10:95628354

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome

Criteria Provided
Conflicting Classifications

CA5620472

rs_546156675

2 SubmittersRCV000283991 RCV003765783

NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=)

SNV
Germline

Chr10:95637159

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Condition: not provided
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome
ALDH18A1-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5620588

rs_150472102

6 SubmittersRCV000287820 RCV001580480 RCV003765784 RCV004537704 RCV001848080

NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)

SNV
Germline

Chr11:65868335

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, autosomal recessive, type 1B
Cardiovascular phenotype
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA6110481

rs_148410446

7 SubmittersRCV000788132 RCV001088860 RCV002446555 RCV003485576

NM_002860.4(ALDH18A1):c.934-7T>A

SNV
Germline

Chr10:95627593

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome

Criteria Provided
Conflicting Classifications

CA5620463

rs_772389382

2 SubmittersRCV000376066 RCV003765782

NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=)

SNV
Germline

Chr12:123737226

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
Condition: not provided
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

CA6861784

rs_367873118

5 SubmittersRCV000328554 RCV001697658 RCV002520795 RCV003897705

NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)

SNV
Germline

Chr12:123751188

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6862089

rs_367950442

3 SubmittersRCV000401678 RCV000865321 RCV001718625

NM_012463.4(ATP6V0A2):c.*191T>C

SNV
Germline

Chr12:123758223

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10636731

rs_150408179

3 SubmittersRCV000331687 RCV001582945

NM_002860.4(ALDH18A1):c.1153-13A>G

SNV
Germline

Chr10:95625468

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Condition: not provided
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome

Criteria Provided
Conflicting Classifications

CA5620402

rs_370680325

3 SubmittersRCV000316163 RCV001718609 RCV003765780

NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)

SNV
Germline

Chr11:65867062

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Cardiovascular phenotype
EFEMP2-related disorder

Criteria Provided
Conflicting Classifications

CA6110374

rs_2234473

12 SubmittersRCV000554306 RCV000589385 RCV003485575 RCV002338879 RCV003957579

NM_016938.5(EFEMP2):c.*115G>A

SNV
Germline

Chr11:65866803

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6110330

rs_187686630

2 SubmittersRCV000312066 RCV001560637

NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)

SNV
Germline

Chr11:65868384

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Condition: not provided
Cardiovascular phenotype
EFEMP2-related disorder

Criteria Provided
Conflicting Classifications

CA6110491

rs_142509316

10 SubmittersRCV000625314 RCV001707637 RCV002446556 RCV003950026

NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=)

SNV
Germline

Chr12:123757966

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

CA6862279

rs_535703391

2 SubmittersRCV000261650 RCV003940172

NM_006329.4(FBLN5):c.1191G>A (p.Thr397=)

SNV
Germline

Chr14:91870380

Conflicting classifications of pathogenicity

Macular degeneration, age-related, 3
Cutis laxa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7312583

rs_148660796

4 SubmittersRCV000270558 RCV000325555 RCV000910443

NM_006329.4(FBLN5):c.862+12C>T

SNV
Germline

Chr14:91882942

Conflicting classifications of pathogenicity

Cutis laxa
Macular degeneration, age-related, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7312725

rs_202088447

2 SubmittersRCV000307466 RCV000395579 RCV002061169

NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser)

SNV
Germline

Chr14:91887256

Conflicting classifications of pathogenicity

Cutis laxa
Macular degeneration, age-related, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7312762

rs_747288805

2 SubmittersRCV000308840 RCV000358898 RCV001850661

NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)

SNV
Germline

Chr12:123724671

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6861576

rs_563333869

3 SubmittersRCV000338336 RCV000910841 RCV002056277

NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)

SNV
Germline

Chr12:123727875

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
not specified
ALG9 congenital disorder of glycosylation
Cutis laxa with osteodystrophy
Wrinkly skin syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6861676

rs_143802431

6 SubmittersRCV000310903 RCV000493630 RCV000872211 RCV000763803 RCV001705460 RCV004021535

NM_001042545.2(LTBP4):c.443-14C>T

SNV
Germline

Chr19:40605391

Conflicting classifications of pathogenicity

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9448041

rs_375934176

2 SubmittersRCV000405342 RCV002521233

NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg)

SNV
Germline

Chr19:40616985

Conflicting classifications of pathogenicity

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Condition: not provided
LTBP4-related disorder

Criteria Provided
Conflicting Classifications

CA9448822

rs_200667255

6 SubmittersRCV000368167 RCV000842389 RCV003957691

NM_006329.4(FBLN5):c.989+9C>T

SNV
Germline

Chr14:91881283

Conflicting classifications of pathogenicity

Macular degeneration, age-related, 3
Cutis laxa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7312683

rs_557362799

2 SubmittersRCV000281897 RCV000371742 RCV000980663

NM_006329.4(FBLN5):c.224T>C (p.Val75Ala)

SNV
Germline

Chr14:91937102

Conflicting classifications of pathogenicity

Macular degeneration
Cutis Laxa, Dominant/Recessive
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7312906

rs_145108467

7 SubmittersRCV000303754 RCV000361075 RCV000611423 RCV001555554 RCV002522340

NM_006329.4(FBLN5):c.*648G>A

SNV
Germline

Chr14:91869576

Conflicting classifications of pathogenicity

Macular degeneration, age-related, 3
Cutis laxa

Criteria Provided
Conflicting Classifications

CA10646537

rs_182435130

1 SubmittersRCV000275616 RCV000330737

NM_006907.4(PYCR1):c.399C>T (p.Thr133=)

SNV
Germline

Chr17:81935067

Conflicting classifications of pathogenicity

Cutis laxa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8845453

rs_148883988

3 SubmittersRCV000329511 RCV000981180

NM_006907.4(PYCR1):c.261G>A (p.Glu87=)

SNV
Germline

Chr17:81935394

Conflicting classifications of pathogenicity

Cutis laxa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8845513

rs_138261889

4 SubmittersRCV000330705 RCV000860954

NM_006907.4(PYCR1):c.110T>G (p.Met37Arg)

SNV
Germline

Chr17:81936151

Conflicting classifications of pathogenicity

Cutis laxa
Condition: not provided
PYCR1-related disorder

Criteria Provided
Conflicting Classifications

CA8845567

rs_138792258

4 SubmittersRCV000340188 RCV001590963 RCV003969927

NM_001042545.2(LTBP4):c.2436G>A (p.Val812=)

SNV
Germline

Chr19:40613408

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Criteria Provided
Conflicting Classifications

CA9448681

rs_371083223

4 SubmittersRCV000955752 RCV000396282

NM_001042545.2(LTBP4):c.2934C>T (p.Gly978=)

SNV
Germline

Chr19:40617010

Conflicting classifications of pathogenicity

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9448827

rs_768587659

2 SubmittersRCV000273613 RCV002521236

NM_006907.4(PYCR1):c.768C>T (p.Asn256=)

SNV
Germline

Chr17:81934355

Conflicting classifications of pathogenicity

Cutis laxa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8845325

rs_553609380

2 SubmittersRCV000358486 RCV002524448

NM_006907.4(PYCR1):c.633+1G>C

SNV
Germline

Chr17:81934652

Pathogenic/Likely pathogenic

Cutis laxa
Inborn genetic diseases
Wiedemann-Rautenstrauch-like progeroid syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8845370

rs_144346996

5 SubmittersRCV000399805 RCV000623063 RCV001291130 RCV001569626

NM_006907.4(PYCR1):c.285C>T (p.Cys95=)

SNV
Germline

Chr17:81935370

Conflicting classifications of pathogenicity

Cutis laxa
Condition: not provided
PYCR1-related disorder

Criteria Provided
Conflicting Classifications

CA8845507

rs_113491328

5 SubmittersRCV000275665 RCV000861053 RCV003912359

NM_006907.4(PYCR1):c.180G>A (p.Val60=)

SNV
Germline

Chr17:81935475

Conflicting classifications of pathogenicity

Cutis laxa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8845536

rs_142458410

3 SubmittersRCV000389717 RCV001711939

NM_006907.4(PYCR1):c.176C>T (p.Thr59Met)

SNV
Germline

Chr17:81935479

Conflicting classifications of pathogenicity

Cutis laxa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8845537

rs_150227130

3 SubmittersRCV000295403 RCV001559809

NM_001042545.2(LTBP4):c.639C>T (p.Tyr213=)

SNV
Germline

Chr19:40605601

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Criteria Provided
Conflicting Classifications

CA9448080

rs_746458434

2 SubmittersRCV003736722 RCV000279582

NM_001042545.2(LTBP4):c.2681-10C>G

SNV
Germline

Chr19:40614305

Conflicting classifications of pathogenicity

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
not specified
Condition: not provided
LTBP4-related disorder

Criteria Provided
Conflicting Classifications

CA9448775

rs_200914063

5 SubmittersRCV000364178 RCV000607965 RCV000918760 RCV003957690

NM_001042545.2(LTBP4):c.2739C>T (p.Asn913=)

SNV
Germline

Chr19:40614373

Conflicting classifications of pathogenicity

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9448786

rs_2303726

3 SubmittersRCV000396279 RCV001582971

NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)

SNV
Germline

ChrX:77988399

Conflicting classifications of pathogenicity

not specified
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10458904

rs_539177302

5 SubmittersRCV000414022 RCV000530559 RCV001828381 RCV003144246 RCV002436234

NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=)

SNV
Germline

ChrX:78031462

Conflicting classifications of pathogenicity

not specified
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

CA16043333

rs_1057518370

3 SubmittersRCV000413911 RCV001835789 RCV002523950

NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe)

SNV
Germline

ChrX:78011199

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

CA10459156

rs_372898963

3 SubmittersRCV000416018 RCV001087633

NM_000501.4(ELN):c.232+3G>A

SNV
Germline

Chr7:74041254

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1

Criteria Provided
Conflicting Classifications

CA4292385

rs_377172364

7 SubmittersRCV000444452 RCV000998804 RCV001055635 RCV001163092

NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)

SNV
Germline

Chr11:65871991

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, autosomal recessive, type 1B
Cardiovascular phenotype
not specified
EFEMP2-related disorder

Criteria Provided
Conflicting Classifications

CA6110776

rs_144320036

11 SubmittersRCV000761780 RCV001000039 RCV002393037 RCV003401432 RCV003902611

NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro)

SNV
Germline

Chr10:95627529

Conflicting classifications of pathogenicity

Condition: not provided
Spondyloepiphyseal dysplasia, Stanescu type
ALDH18A1-related de Barsy syndrome
Inborn genetic diseases
Autosomal recessive complex spastic paraplegia type 9B
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA5620450

rs_765380273

6 SubmittersRCV000429762 RCV000850403 RCV003152603 RCV002525501 RCV003147460 RCV003766464

NM_012463.4(ATP6V0A2):c.1189+12G>T

SNV
Germline

Chr12:123743947

Conflicting classifications of pathogenicity

not specified
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6861863

rs_377235629

3 SubmittersRCV000433780 RCV001113314 RCV002063585

NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser)

SNV
Germline

Chr10:95606805

Conflicting classifications of pathogenicity

Condition: not provided
ALDH18A1-related de Barsy syndrome
de Barsy syndrome
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Conflicting Classifications

CA5620083

rs_774047299

3 SubmittersRCV000444022 RCV000995483 RCV003766249

NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)

SNV
Germline

Chr10:95606918

Conflicting classifications of pathogenicity

Condition: not provided
ALDH18A1-related de Barsy syndrome
Hereditary spastic paraplegia
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Cutis laxa, autosomal dominant 3
ALDH18A1-related disorder

Criteria Provided
Conflicting Classifications

CA5620100

rs_148601288

6 SubmittersRCV000639569 RCV001104017 RCV001848793 RCV003766437 RCV004533121

NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=)

SNV
Germline

Chr10:95610243

Conflicting classifications of pathogenicity

Condition: not provided
ALDH18A1-related de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA5620124

rs_374052426

4 SubmittersRCV000761739 RCV001104317 RCV003766466

NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter)

SNV
Germline

Chr10:95633013

Pathogenic

Condition: not provided
de Barsy syndrome
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA5620528

rs_758543218

2 SubmittersRCV000441761 RCV003766465

NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)

SNV
Germline

Chr12:123724781

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cutis laxa with osteodystrophy
Wrinkly skin syndrome
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6861598

rs_143509747

8 SubmittersRCV000423155 RCV000729905 RCV000763802 RCV001113218 RCV001861625

NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln)

SNV
Germline

ChrX:78003159

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

CA10459074

rs_782491733

2 SubmittersRCV000430636 RCV001454784

NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile)

SNV
Germline

ChrX:78031400

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

CA10459383

rs_181435872

2 SubmittersRCV000429551 RCV001080223

NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)

SNV
Germline

ChrX:77989622

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome
Ehlers-Danlos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10458981

rs_368622356

7 SubmittersRCV000445022 RCV001196180 RCV001085591 RCV001274227 RCV002279202 RCV002348215

NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn)

SNV
Germline

ChrX:78009196

Conflicting classifications of pathogenicity

not specified
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Conflicting Classifications

CA10459112

rs_371777895

2 SubmittersRCV000443197 RCV001035427

NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)

SNV
Germline

ChrX:77989652

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
not specified

Criteria Provided
Conflicting Classifications

CA10458986

rs_782196306

3 SubmittersRCV000426016 RCV001089330 RCV002282146

NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)

SNV
Germline

ChrX:78009115

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Inborn genetic diseases
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

CA10459093

rs_782076879

5 SubmittersRCV000444044 RCV001508048 RCV001861618 RCV002402192 RCV001833557

NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro)

SNV
Germline

Chr22:17600079

Pathogenic

Autosomal recessive cutis laxa type 2C

No Assertion Criteria Provided

CA16616866

rs_1060505031

1 SubmittersRCV000477698

NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)

SNV
Germline

Chr22:17592721

Pathogenic/Likely pathogenic

Autosomal recessive cutis laxa type 2C
Condition: not provided
Cutis laxa
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16616867

rs_1028534806

6 SubmittersRCV000477738 RCV002298611 RCV004579547 RCV004541516

NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp)

SNV
Germline

Chr3:113784227

Pathogenic

Autosomal recessive cutis laxa type 2D

No Assertion Criteria Provided

CA16616874

rs_1060505037

1 SubmittersRCV000477689

NM_000501.4(ELN):c.1537G>A (p.Val513Ile)

SNV
Germline

Chr7:74060008

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, autosomal dominant 1
Inborn genetic diseases
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA4293089

rs_372788076

4 SubmittersRCV000478684 RCV002470874 RCV002526957 RCV002525947

NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)

SNV
Germline

ChrX:78046379

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10459542

rs_782682493

3 SubmittersRCV000640892 RCV001722409 RCV002329161

NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu)

SNV
Germline

ChrX:77989704

Conflicting classifications of pathogenicity

Condition: not provided
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

CA10458989

rs_782651571

3 SubmittersRCV000487621 RCV001362009

NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala)

SNV
Germline

ChrX:77998525

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Condition: not provided
Menkes kinky-hair syndrome
ATP7A-related disorder

Criteria Provided
Conflicting Classifications

CA10459044

rs_781964005

4 SubmittersRCV001241257 RCV001696820 RCV001835828 RCV003424044

NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg)

SNV
Germline

ChrX:78012931

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Condition: not provided
Menkes kinky-hair syndrome
ATP7A-related disorder

Criteria Provided
Conflicting Classifications

CA10459243

rs_782664014

4 SubmittersRCV001241258 RCV001712456 RCV001834599 RCV003419831

NM_016938.5(EFEMP2):c.-113C>T

SNV
Germline

Chr11:65872788

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6110810

rs_188624478

3 SubmittersRCV000506816 RCV001778984

NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=)

SNV
Germline

Chr10:95621184

Conflicting classifications of pathogenicity

Condition: not provided
ALDH18A1-related de Barsy syndrome
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
ALDH18A1-related disorder

Criteria Provided
Conflicting Classifications

CA5620353

rs_150526956

5 SubmittersRCV000512700 RCV001107749 RCV003766892 RCV004535649

NM_000501.4(ELN):c.460G>A (p.Val154Met)

SNV
Germline

Chr7:74043911

Conflicting classifications of pathogenicity

Condition: not provided
Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4292496

rs_145669576

5 SubmittersRCV000522898 RCV001158464 RCV001158465 RCV004541630

NM_000501.4(ELN):c.473C>T (p.Ala158Val)

SNV
Germline

Chr7:74045225

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, autosomal dominant 1
Inborn genetic diseases
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA4292521

rs_201137255

4 SubmittersRCV000521003 RCV001161669 RCV002525163 RCV001161668

NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr)

SNV
Germline

Chr17:81934931

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive cutis laxa type 2B
Wiedemann-Rautenstrauch-like progeroid syndrome
Cutis laxa

Criteria Provided
Multiple Submitters
No Conflicts

CA8845416

rs_139751598

6 SubmittersRCV000519424 RCV000856791 RCV001291131 RCV001584233

NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys)

SNV
Germline

Chr19:40611223

Conflicting classifications of pathogenicity

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9448462

rs_200338042

5 SubmittersRCV001132168 RCV000762019 RCV002525140

NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr)

SNV
Germline

ChrX:77988263

Conflicting classifications of pathogenicity

Condition: not provided
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

CA413598781

rs_1557231562

2 SubmittersRCV000521317 RCV003766966

NM_000052.7(ATP7A):c.673A>G (p.Met225Val)

SNV
Germline

ChrX:77989295

Conflicting classifications of pathogenicity

Condition: not provided
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

CA10458952

rs_782619990

2 SubmittersRCV000523020 RCV001079767

NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr)

SNV
Germline

ChrX:77989662

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

CA10458987

rs_368982547

3 SubmittersRCV000520631 RCV001834711 RCV002527654

NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)

SNV
Germline

Chr10:95637100

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA5620586

rs_201428777

4 SubmittersRCV001848936 RCV002526112 RCV003424107 RCV003766998

NM_016938.5(EFEMP2):c.422A>T (p.His141Leu)

SNV
Germline

Chr11:65870604

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6110671

rs_148315164

4 SubmittersRCV000548233 RCV001788285 RCV002330952

NM_016938.5(EFEMP2):c.990G>A (p.Pro330=)

SNV
Germline

Chr11:65868041

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6110439

rs_61740381

4 SubmittersRCV000531562 RCV001556936 RCV004024217

NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys)

SNV
Germline

Chr11:65870617

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA381307982

rs_1306393544

3 SubmittersRCV000542730 RCV002324035

NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)

SNV
Germline

ChrX:78033783

Pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

CA413604244

rs_1557237451

1 SubmittersRCV000530815

NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=)

SNV
Germline

ChrX:78046489

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Ehlers-Danlos syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA517460894

rs_1557239138

3 SubmittersRCV000545476 RCV002279348 RCV002330881

NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala)

SNV
Germline

ChrX:78033785

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome
Condition: not provided
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

CA10459417

rs_138154934

3 SubmittersRCV000550411 RCV001547294 RCV001834780

NM_000052.7(ATP7A):c.4006-1G>A

SNV
Germline

ChrX:78043316

Likely pathogenic

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Single Submitter

CA413605455

rs_1557238665

1 SubmittersRCV000538247

NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)

SNV
Germline

ChrX:77989778

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome
not specified
Condition: not provided
Inborn genetic diseases
ATP7A-related disorder

Criteria Provided
Conflicting Classifications

CA10459000

rs_369419911

5 SubmittersRCV000549839 RCV002265795 RCV001764568 RCV002367848 RCV003900169

NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys)

SNV
Germline

ChrX:78011573

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome
not specified

Criteria Provided
Conflicting Classifications

CA331096924

rs_944415019

2 SubmittersRCV000541241 RCV000608309

NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val)

SNV
Germline

ChrX:78015774

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10459289

rs_372318616

4 SubmittersRCV000555196 RCV001508049 RCV002431615

NM_000052.7(ATP7A):c.3111+1G>A

SNV
Germline

ChrX:78029445

Likely pathogenic

Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

CA413603416

rs_1557236762

1 SubmittersRCV000552537

NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)

SNV
Germline

Chr17:81935111

Pathogenic/Likely pathogenic

Autosomal recessive cutis laxa type 2B
Condition: not provided
Cutis laxa
PYCR1-related disorder
PYCR1-related de Barsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8845460

rs_121918376

9 SubmittersRCV000578310 RCV001550766 RCV002509452 RCV003945359 RCV003992334

NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter)

SNV
Germline

Chr10:95606857

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA377698996

rs_1462559161

4 SubmittersRCV000578985 RCV001330992 RCV003767254

NM_000052.7(ATP7A):c.2499-7T>C

SNV
Germline

ChrX:78015747

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

CA10459288

rs_782260332

4 SubmittersRCV000585324 RCV001829613 RCV001510001

NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg)

SNV
Germline

ChrX:78046377

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

CA413606147

rs_1557239111

2 SubmittersRCV000585598 RCV001483521

NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)

SNV
Germline

Chr12:123722418

Conflicting classifications of pathogenicity

ALG9 congenital disorder of glycosylation
Cutis laxa with osteodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6861538

rs_139785866

5 SubmittersRCV001085019 RCV001113217 RCV000726817

NM_002860.4(ALDH18A1):c.1467+15C>T

SNV
Germline

Chr10:95621016

Conflicting classifications of pathogenicity

not specified
ALDH18A1-related de Barsy syndrome
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA5620316

rs_374652686

3 SubmittersRCV000605749 RCV001107745 RCV003767684

NM_016938.5(EFEMP2):c.728-3C>T

SNV
Germline

Chr11:65868632

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Condition: not provided
Cardiovascular phenotype
EFEMP2-related disorder

Criteria Provided
Conflicting Classifications

CA6110535

rs_377139656

6 SubmittersRCV000649948 RCV001712623 RCV002384320 RCV003927964

NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=)

SNV
Germline

Chr10:95621130

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Condition: not provided
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA5620338

rs_369979669

3 SubmittersRCV001107747 RCV001718941 RCV003767569

NM_001042545.2(LTBP4):c.864C>T (p.Cys288=)

SNV
Germline

Chr19:40606303

Conflicting classifications of pathogenicity

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9448115

rs_758784148

3 SubmittersRCV001136425 RCV000605281 RCV002528544

NM_000052.7(ATP7A):c.1789G>A (p.Val597Met)

SNV
Germline

ChrX:78009183

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Condition: not provided
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

CA10459109

rs_781959472

3 SubmittersRCV000615428 RCV001755993 RCV003767739

NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)

SNV
Germline

ChrX:78046491

Conflicting classifications of pathogenicity

Inborn genetic diseases
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Menkes kinky-hair syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10459553

rs_782774219

5 SubmittersRCV000624547 RCV000687489 RCV001829743 RCV003151797

NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)

SNV
Germline

Chr10:95606919

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA5620102

rs_762271422

2 SubmittersRCV000626090 RCV003767836

NM_000501.4(ELN):c.1675G>A (p.Val559Ile)

SNV
Germline

Chr7:74060429

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Williams syndrome
Condition: not provided
Inborn genetic diseases
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4293156

rs_560081099

5 SubmittersRCV000627827 RCV000765973 RCV000762455 RCV002533162 RCV004533301

NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)

SNV
Germline

ChrX:77989502

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
See cases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10458969

rs_150526992

5 SubmittersRCV000842321 RCV001089200 RCV002252186 RCV002449009

NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)

SNV
Germline

ChrX:77998526

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10459045

rs_201999500

5 SubmittersRCV000640895 RCV001508046 RCV002388073

NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)

SNV
Germline

ChrX:78012985

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10459249

rs_782006661

5 SubmittersRCV000640891 RCV001756068 RCV002449008

NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met)

SNV
Germline

ChrX:78029281

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10459361

rs_782094358

2 SubmittersRCV000640908 RCV001726282

NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr)

SNV
Germline

ChrX:78020342

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10459317

rs_146119866

3 SubmittersRCV000640890 RCV001835031 RCV002424438

NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro)

SNV
Germline

ChrX:77998516

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

rs_374530062

3 SubmittersRCV000658425 RCV001829823 RCV002536328

NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser)

SNV
Germline

ChrX:78029257

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

rs_1557236698

3 SubmittersRCV000658090 RCV001835901 RCV002534270

NM_002860.4(ALDH18A1):c.718-7A>C

SNV
Germline

Chr10:95633056

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

rs_1230591674

2 SubmittersRCV000658574 RCV003767897

NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val)

SNV
Germline

ChrX:78013081

Conflicting classifications of pathogenicity

Condition: not provided
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

rs_782770209

2 SubmittersRCV000659169 RCV002536336

NM_000501.4(ELN):c.767C>T (p.Ala256Val)

SNV
Germline

Chr7:74048524

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1

Criteria Provided
Conflicting Classifications

rs_782285456

2 SubmittersRCV000693591 RCV001165287

NM_016938.5(EFEMP2):c.608-1G>C

SNV
Germline

Chr11:65869977

Likely pathogenic

Cutis laxa, autosomal recessive, type 1B

Criteria Provided
Single Submitter

rs_888015688

1 SubmittersRCV000698216

NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)

SNV
Germline

ChrX:77998678

Pathogenic

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Single Submitter

rs_1569549699

1 SubmittersRCV000704722

NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)

SNV
Germline

ChrX:77989466

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782237314

5 SubmittersRCV000703372 RCV001508045 RCV003380695

NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)

SNV
Germline

ChrX:77971656

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_781952393

2 SubmittersRCV000821440 RCV002318870

NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)

SNV
Germline

ChrX:78009250

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Inborn genetic diseases
ATP7A-related disorder

Criteria Provided
Conflicting Classifications

rs_1569549841

4 SubmittersRCV000990879 RCV001862055 RCV002318099 RCV003908003

NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)

SNV
Germline

ChrX:78046515

Conflicting classifications of pathogenicity

Inborn genetic diseases
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

rs_782799150

2 SubmittersRCV002314494 RCV003768130

NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln)

SNV
Germline

ChrX:78038956

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782166627

2 SubmittersRCV001466222 RCV002318876

NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)

SNV
Germline

Chr12:123737187

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_75746974

4 SubmittersRCV000728672 RCV001111307 RCV001412196

NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter)

SNV
Germline

Chr19:40611169

Pathogenic

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Criteria Provided
Single Submitter

rs_1568406407

1 SubmittersRCV000779629

NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)

SNV
Germline

Chr10:95621225

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Condition: not provided
de Barsy syndrome
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Conflicting Classifications

rs_762742204

6 SubmittersRCV000782365 RCV001576379 RCV003768458

NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu)

SNV
Germline

Chr11:65868323

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Cardiovascular phenotype
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_113167523

3 SubmittersRCV000811980 RCV002370184 RCV003485648

NM_000052.7(ATP7A):c.207G>A (p.Met69Ile)

SNV
Germline

ChrX:77988328

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

rs_782290331

2 SubmittersRCV000793378 RCV002279531

NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn)

SNV
Germline

ChrX:77988435

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

rs_782475540

3 SubmittersRCV000816879 RCV001825642

NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)

SNV
Germline

ChrX:77988489

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782664232

3 SubmittersRCV000803726 RCV002345800

NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)

SNV
Germline

ChrX:78003087

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Menkes kinky-hair syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1331470313

4 SubmittersRCV000804376 RCV001830742 RCV003117594

NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)

SNV
Germline

ChrX:78011633

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782268170

5 SubmittersRCV000818218 RCV001552958 RCV002415920

NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr)

SNV
Germline

ChrX:78020327

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Menkes kinky-hair syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1427317043

3 SubmittersRCV000809589 RCV001835973 RCV003314649

NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)

SNV
Germline

ChrX:78042651

Pathogenic

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Single Submitter

rs_1603391120

1 SubmittersRCV000813946

NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)

SNV
Germline

ChrX:78046423

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782364202

4 SubmittersRCV000792466 RCV001830686 RCV003437428

NM_002860.4(ALDH18A1):c.88+1G>A

SNV
Germline

Chr10:95653289

Likely pathogenic

ALDH18A1-related de Barsy syndrome
Condition: not provided
ALDH18A1-related disorder
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Cutis laxa, autosomal dominant 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_556267618

5 SubmittersRCV000853365 RCV001550422 RCV002279963 RCV003768530

NM_000052.7(ATP7A):c.3294+1G>A

SNV
Germline

ChrX:78031583

Pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

rs_797045374

1 SubmittersRCV000803093

NM_000052.7(ATP7A):c.1947-5A>G

SNV
Germline

ChrX:78011444

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1557234466

3 SubmittersRCV000823770 RCV001825672 RCV002408994

NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=)

SNV
Germline

Chr12:123726211

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_140835376

3 SubmittersRCV000836118 RCV001114576 RCV002068554

NM_006907.4(PYCR1):c.615C>T (p.Leu205=)

SNV
Germline

Chr17:81934671

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa

Criteria Provided
Conflicting Classifications

rs_755711481

3 SubmittersRCV000838202 RCV001124508

NM_002860.4(ALDH18A1):c.304-3C>T

SNV
Germline

Chr10:95637439

Conflicting classifications of pathogenicity

Condition: not provided
ALDH18A1-related de Barsy syndrome
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

rs_188362786

3 SubmittersRCV000841033 RCV001107154 RCV003768595

NM_000052.7(ATP7A):c.1543+9C>G

SNV
Germline

ChrX:77998693

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

rs_367977602

4 SubmittersRCV000841351 RCV001490968 RCV001830855 RCV002279557

NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)

SNV
Germline

Chr10:95610226

Conflicting classifications of pathogenicity

Spondyloepiphyseal dysplasia, Stanescu type
Condition: not provided
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
Autosomal recessive complex spastic paraplegia type 9B

Criteria Provided
Conflicting Classifications

rs_773714478

5 SubmittersRCV000850402 RCV002062231 RCV003768618 RCV003992406

NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter)

SNV
Germline

Chr2:55881637

Pathogenic

14 conditions
Cutis laxa, autosomal recessive, type 1d

Criteria Provided
Single Submitter

rs_765517862

2 SubmittersRCV000853093 RCV003991509

NM_006907.4(PYCR1):c.722C>T (p.Ala241Val)

SNV
Unknown

Chr17:81934401

Pathogenic

Autosomal recessive cutis laxa type 2B

Criteria Provided
Single Submitter

rs_770505872

1 SubmittersRCV000856800

NM_006907.4(PYCR1):c.11G>T (p.Gly4Val)

SNV
Unknown

Chr17:81936804

Pathogenic

Autosomal recessive cutis laxa type 2B

Criteria Provided
Single Submitter

rs_1598358440

1 SubmittersRCV000856734

NM_006907.4(PYCR1):c.540+1G>A

SNV
Germline

Chr17:81934925

Pathogenic

Autosomal recessive cutis laxa type 2B
Wiedemann-Rautenstrauch-like progeroid syndrome
Condition: not provided
PYCR1-related de Barsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_752297179

6 SubmittersRCV000856792 RCV001291252 RCV001726344 RCV003444700

NM_000501.4(ELN):c.1884C>T (p.Ala628=)

SNV
Germline

Chr7:74063335

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_372315353

5 SubmittersRCV000862558 RCV001336345 RCV001593073

NM_000501.4(ELN):c.1994-7T>G

SNV
Germline

Chr7:74065687

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided
ELN-related disorder

Criteria Provided
Conflicting Classifications

rs_375277198

4 SubmittersRCV000863362 RCV001158791 RCV001571307 RCV004540172

NM_000501.4(ELN):c.278C>T (p.Pro93Leu)

SNV
Germline

Chr7:74042659

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_181019457

3 SubmittersRCV000865974 RCV001165177 RCV003279129

NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly)

SNV
Germline

Chr10:95606815

Conflicting classifications of pathogenicity

Condition: not provided
ALDH18A1-related de Barsy syndrome
Hereditary spastic paraplegia 9A
de Barsy syndrome
Cutis laxa, autosomal dominant 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_143874727

4 SubmittersRCV000876973 RCV001104016 RCV002064870 RCV002539234

NM_016938.5(EFEMP2):c.363T>C (p.Cys121=)

SNV
Germline

Chr11:65871161

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_746343857

5 SubmittersRCV000873604 RCV001566019 RCV002454026

NM_000052.7(ATP7A):c.2582G>A (p.Arg861His)

SNV
Germline

ChrX:78015837

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782174967

2 SubmittersRCV000873628 RCV003438531

NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)

SNV
Germline

ChrX:77998568

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Condition: not provided
Inborn genetic diseases
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Conflicting Classifications

rs_782702847

5 SubmittersRCV000952590 RCV001274228 RCV003438626 RCV002391004 RCV002546039

NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)

SNV
Germline

ChrX:78046481

Conflicting classifications of pathogenicity

not specified
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Conflicting Classifications

rs_782062633

3 SubmittersRCV001000803 RCV001435844

NM_001042545.2(LTBP4):c.2235G>A (p.Ser745=)

SNV
Germline

Chr19:40612128

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Criteria Provided
Conflicting Classifications

rs_374862225

3 SubmittersRCV000883537 RCV001134570

NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp)

SNV
Germline

ChrX:78011456

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_377714939

2 SubmittersRCV000907741 RCV002416121

NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)

SNV
Germline

ChrX:78046334

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_149079962

3 SubmittersRCV001277502 RCV001404689 RCV002332942

NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr)

SNV
Germline

ChrX:77998651

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781786942

3 SubmittersRCV000983812 RCV001274229 RCV003145243

NM_002860.4(ALDH18A1):c.2232G>C (p.Ser744=)

SNV
Germline

Chr10:95606918

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
ALDH18A1-related disorder

Criteria Provided
Conflicting Classifications

rs_148601288

3 SubmittersRCV000994484 RCV003769331 RCV004536025

NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly)

SNV
Unknown

Chr17:81934729

Likely pathogenic

Autosomal recessive cutis laxa type 2B

Criteria Provided
Single Submitter

rs_1180294322

1 SubmittersRCV001027684

NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)

SNV
Germline

Chr7:74054768

Pathogenic/Likely pathogenic

Supravalvar aortic stenosis
Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Williams syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_199621188

2 SubmittersRCV001036361 RCV002489542

NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg)

SNV
Germline

Chr11:65869956

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Condition: not provided
Cardiovascular phenotype
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_546162289

5 SubmittersRCV001040280 RCV001565379 RCV002363571 RCV003485677

NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)

SNV
Germline

ChrX:77989949

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1227094533

3 SubmittersRCV001070428 RCV001833668 RCV002379625

NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)

SNV
Germline

ChrX:78003103

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Inborn genetic diseases
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

rs_368355216

3 SubmittersRCV001058784 RCV002402423 RCV001274231

NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)

SNV
Germline

ChrX:78038947

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
See cases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146392305

3 SubmittersRCV001050454 RCV002252300 RCV001535156

NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)

SNV
Germline

ChrX:78040668

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1385333276

3 SubmittersRCV001043827 RCV002348365

NM_000501.4(ELN):c.35G>T (p.Gly12Val)

SNV
Germline

Chr7:74028222

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Williams syndrome

Criteria Provided
Conflicting Classifications

rs_367634266

5 SubmittersRCV001093392 RCV001158353 RCV001161558 RCV002505673

NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=)

SNV
Germline

Chr10:95628482

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Cutis laxa, autosomal dominant 3
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Conflicting Classifications

rs_752470665

2 SubmittersRCV001104411 RCV003769088

NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=)

SNV
Germline

Chr10:95643031

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
de Barsy syndrome
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Conflicting Classifications

rs_537733180

2 SubmittersRCV001107155 RCV003769101

NM_016938.5(EFEMP2):c.874C>T (p.His292Tyr)

SNV
Germline

Chr11:65868395

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_532989312

3 SubmittersRCV001106761 RCV003380848

NM_016938.5(EFEMP2):c.639C>T (p.Cys213=)

SNV
Germline

Chr11:65869945

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_199606204

3 SubmittersRCV001106762 RCV002365800

NM_016938.5(EFEMP2):c.321C>T (p.Asn107=)

SNV
Germline

Chr11:65871203

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_762409753

4 SubmittersRCV001108920 RCV001585983 RCV002320365

NM_002860.4(ALDH18A1):c.933+13T>C

SNV
Germline

Chr10:95628355

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
de Barsy syndrome
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Conflicting Classifications

rs_201520042

2 SubmittersRCV001104410 RCV003769087

NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=)

SNV
Germline

Chr12:123744334

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_985944979

2 SubmittersRCV001113316 RCV003502588

NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=)

SNV
Germline

Chr12:123744891

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_182439983

3 SubmittersRCV001114686 RCV001561688 RCV002069848

NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=)

SNV
Germline

Chr12:123756960

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_200933894

2 SubmittersRCV001111402 RCV003609178

NM_012463.4(ATP6V0A2):c.*2875A>C

SNV
Germline

Chr12:123760907

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_149741581

2 SubmittersRCV001109271 RCV003405319

NM_012463.4(ATP6V0A2):c.1515-12T>G

SNV
Germline

Chr12:123744870

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_201512900

2 SubmittersRCV001113319 RCV003502589

NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln)

SNV
Germline

Chr14:91870330

Conflicting classifications of pathogenicity

Cutis laxa
Macular degeneration, age-related, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142907552

3 SubmittersRCV001116798 RCV001116797 RCV001856533

NM_006329.4(FBLN5):c.573A>G (p.Thr191=)

SNV
Germline

Chr14:91891267

Conflicting classifications of pathogenicity

Macular degeneration, age-related, 3
Cutis laxa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756288143

2 SubmittersRCV001118352 RCV001118353 RCV002069913

NM_006329.4(FBLN5):c.273G>A (p.Pro91=)

SNV
Germline

Chr14:91937053

Conflicting classifications of pathogenicity

Cutis laxa
Macular degeneration, age-related, 3
Condition: not provided
FBLN5-related disorder

Criteria Provided
Conflicting Classifications

rs_368771780

4 SubmittersRCV001119892 RCV001119893 RCV001574532 RCV003928720

NM_006907.4(PYCR1):c.717C>T (p.Ile239=)

SNV
Germline

Chr17:81934406

Conflicting classifications of pathogenicity

Cutis laxa
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_745549446

2 SubmittersRCV001123406 RCV003708572

NM_006907.4(PYCR1):c.798-4C>T

SNV
Germline

Chr17:81933380

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa

Criteria Provided
Conflicting Classifications

rs_1265069029

2 SubmittersRCV003698836 RCV001123405

NM_001042545.2(LTBP4):c.1020G>A (p.Gly340=)

SNV
Germline

Chr19:40607393

Conflicting classifications of pathogenicity

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_543717406

2 SubmittersRCV001136427 RCV003727891

NM_001042545.2(LTBP4):c.1041C>G (p.Arg347=)

SNV
Germline

Chr19:40607414

Conflicting classifications of pathogenicity

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1213927843

2 SubmittersRCV001136428 RCV003769644

NM_001042545.2(LTBP4):c.1161T>C (p.Gly387=)

SNV
Germline

Chr19:40608224

Conflicting classifications of pathogenicity

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_554968375

4 SubmittersRCV001129441 RCV001311526

NM_001042545.2(LTBP4):c.2160T>C (p.Thr720=)

SNV
Germline

Chr19:40611965

Conflicting classifications of pathogenicity

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_578204135

2 SubmittersRCV001133093 RCV003718350

NM_001042545.2(LTBP4):c.2431+11T>C

SNV
Germline

Chr19:40613207

Conflicting classifications of pathogenicity

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370485510

2 SubmittersRCV001134571 RCV002556877

NM_000501.4(ELN):c.478T>C (p.Phe160Leu)

SNV
Germline

Chr7:74045230

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1

Criteria Provided
Conflicting Classifications

rs_781857513

2 SubmittersRCV001161670 RCV001161671

NM_000501.4(ELN):c.483C>A (p.Pro161=)

SNV
Germline

Chr7:74045235

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150690195

4 SubmittersRCV001161672 RCV001161673 RCV001702769

NM_000501.4(ELN):c.710G>C (p.Gly237Ala)

SNV
Germline

Chr7:74048166

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_934014841

4 SubmittersRCV001163194 RCV001163195 RCV001664714 RCV004032867

NM_000501.4(ELN):c.853G>A (p.Val285Met)

SNV
Germline

Chr7:74051803

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199709542

3 SubmittersRCV001165289 RCV001165288 RCV003883565

NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)

SNV
Germline

Chr7:74060394

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1

Criteria Provided
Conflicting Classifications

rs_150248865

2 SubmittersRCV001163419 RCV001163418

NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)

SNV
Germline

Chr7:74063185

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

rs_781963804

2 SubmittersRCV001163706 RCV001163707

NM_000501.4(ELN):c.2131+14C>T

SNV
Germline

Chr7:74066790

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

rs_782790041

2 SubmittersRCV001163517 RCV001163518

NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys)

SNV
Germline

Chr11:65870545

Pathogenic/Likely pathogenic

Cutis laxa, autosomal recessive, type 1B

Criteria Provided
Multiple Submitters
No Conflicts

rs_761656636

3 SubmittersRCV001169986

NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly)

SNV
Unknown

ChrX:78015831

Pathogenic

Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3

No Assertion Criteria Provided

rs_2077859082

1 SubmittersRCV001194652

NM_006329.4(FBLN5):c.739+14G>A

SNV
Germline

Chr14:91887179

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1390709680

2 SubmittersRCV001196331 RCV002560220

NM_000052.7(ATP7A):c.1544-2A>T

SNV
Germline

ChrX:78003071

Likely pathogenic

Cutis laxa, X-linked
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_2077751404

2 SubmittersRCV001198146 RCV001379325

NM_000052.7(ATP7A):c.2917-13C>A

SNV
Germline

ChrX:78029237

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Conflicting Classifications

rs_1343084607

2 SubmittersRCV001196121 RCV003770201

NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter)

SNV
Germline

Chr11:65870229

Pathogenic

Cutis laxa, autosomal recessive, type 1B
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_763944898

2 SubmittersRCV001219308 RCV002339579

NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter)

SNV
Germline

ChrX:78038850

Pathogenic

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Single Submitter

rs_2078030304

1 SubmittersRCV001215698

NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)

SNV
Germline

ChrX:78046335

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Condition: not provided
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

rs_368091927

3 SubmittersRCV001217137 RCV001569797 RCV001833889

NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter)

SNV
Germline

Chr11:65868408

Pathogenic

Cutis laxa, autosomal recessive, type 1B

Criteria Provided
Single Submitter

rs_1044449024

1 SubmittersRCV001206195

NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr)

SNV
Germline

ChrX:77989935

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377651753

2 SubmittersRCV001236422 RCV002469357

NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)

SNV
Germline

ChrX:77989846

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Condition: not provided
Menkes kinky-hair syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_373634671

4 SubmittersRCV001243858 RCV001565809 RCV001835185 RCV003479302

NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)

SNV
Germline

ChrX:78011610

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2234936

3 SubmittersRCV001240815 RCV001834131 RCV002418825

NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)

SNV
Germline

ChrX:78043384

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Menkes kinky-hair syndrome
Intellectual disability
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1423719687

5 SubmittersRCV001241547 RCV001828980 RCV001252421 RCV002322147

NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys)

SNV
Germline

ChrX:78046313

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_781970260

4 SubmittersRCV001243392 RCV001559244 RCV001559246 RCV001559245 RCV002327588

NM_006907.4(PYCR1):c.559G>A (p.Ala187Thr)

SNV
Germline

Chr17:81934727

Conflicting classifications of pathogenicity

Autosomal recessive cutis laxa type 2B
PYCR1-related de Barsy syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_763349891

2 SubmittersRCV001249633 RCV002225812

NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe)

SNV
Germline

Chr17:81934368

Conflicting classifications of pathogenicity

Autosomal recessive cutis laxa type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_767581950

2 SubmittersRCV001254109 RCV002570554

NM_000052.7(ATP7A):c.1946+1G>T

SNV
Germline

ChrX:78011253

Pathogenic

Cutis laxa, X-linked
Menkes kinky-hair syndrome

Criteria Provided
Single Submitter

rs_797045340

2 SubmittersRCV001254118 RCV003311971

NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr)

SNV
Germline

Chr10:95611342

Conflicting classifications of pathogenicity

Intellectual disability
Cutis laxa, autosomal dominant 3
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Conflicting Classifications

rs_989031241

2 SubmittersRCV001260897 RCV003770353

NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg)

SNV
Germline

Chr11:65870647

Pathogenic

Cutis laxa, autosomal recessive, type 1B

Criteria Provided
Single Submitter

rs_1859949436

1 SubmittersRCV001261982

NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys)

SNV
Germline

Chr10:95611256

Conflicting classifications of pathogenicity

Inborn genetic diseases
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Condition: not provided
ALDH18A1-related disorder

Criteria Provided
Conflicting Classifications

rs_758219423

4 SubmittersRCV001265845 RCV003770383 RCV003313204 RCV004528443

NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys)

SNV
Germline

Chr17:81934372

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Autosomal recessive cutis laxa type 2B
not specified

Criteria Provided
Conflicting Classifications

rs_756363870

4 SubmittersRCV001267330 RCV001880140 RCV003389069 RCV004526824

NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=)

SNV
Germline

ChrX:78045558

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

rs_2078077936

3 SubmittersRCV001277501 RCV002069400 RCV002276673

NM_002317.7(LOX):c.1021A>C (p.Thr341Pro)

SNV
Germline

Chr5:122074027

Likely pathogenic

Generalized arterial tortuosity
Cutis laxa

Criteria Provided
Single Submitter

rs_1436353084

1 SubmittersRCV001530398

NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter)

SNV
Germline

Chr14:91877538

Pathogenic

Cutis laxa, autosomal recessive, type 1A

Criteria Provided
Single Submitter

rs_746506432

1 SubmittersRCV001290131

NM_006907.4(PYCR1):c.67+2T>A

SNV
Germline

Chr17:81936746

Pathogenic

Autosomal recessive cutis laxa type 2B

Criteria Provided
Single Submitter

rs_2041207320

1 SubmittersRCV001290341

NM_006907.4(PYCR1):c.728A>G (p.His243Arg)

SNV
Germline

Chr17:81934395

Pathogenic

Autosomal recessive cutis laxa type 2B

Criteria Provided
Single Submitter

rs_2041098364

1 SubmittersRCV001290342

NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu)

SNV
Germline

ChrX:78042678

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782628250

2 SubmittersRCV001319490 RCV001760397

NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser)

SNV
Germline

ChrX:78045526

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_189818149

2 SubmittersRCV001323210 RCV003442846

NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter)

SNV
Germline

Chr10:95621177

Pathogenic

Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome

Criteria Provided
Single Submitter

rs_145289559

1 SubmittersRCV003786044

NM_001042545.2(LTBP4):c.1307-2A>G

SNV
Germline

Chr19:40608482

Likely pathogenic

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_970983655

3 SubmittersRCV001332723 RCV001561201

NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr)

SNV
Germline

ChrX:77988527

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781912401

2 SubmittersRCV001897867 RCV003328684

NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu)

SNV
Germline

ChrX:78009223

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781872960

2 SubmittersRCV001338453 RCV003232315

NM_001039348.3(EFEMP1):c.1201C>T (p.Arg401Ter)

SNV
Germline

Chr2:55870839

Pathogenic

Cutis laxa
Cutis laxa, autosomal recessive, type 1d

Criteria Provided
Single Submitter

rs_2104369155

2 SubmittersRCV001354060 RCV003991511

NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly)

SNV
Germline

ChrX:77998589

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781834607

2 SubmittersRCV001366288 RCV003145627

NM_002860.4(ALDH18A1):c.1370G>T (p.Arg457Leu)

SNV
Germline

Chr10:95621128

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

rs_570730665

2 SubmittersRCV001823207 RCV003771353

NM_002860.4(ALDH18A1):c.357C>T (p.Ala119=)

SNV
Germline

Chr10:95637383

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

rs_767594147

3 SubmittersRCV001531078 RCV001847277 RCV003771437

NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp)

SNV
Germline

ChrX:78046419

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782232632

2 SubmittersRCV001475026 RCV002329571

NM_016938.5(EFEMP2):c.368-5C>T

SNV
Germline

Chr11:65870663

Conflicting classifications of pathogenicity

Cutis laxa, autosomal recessive, type 1B
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

rs_201248112

3 SubmittersRCV001498868 RCV002456899 RCV003331171

NM_006329.4(FBLN5):c.850C>T (p.Arg284Ter)

SNV
Germline

Chr14:91882966

Likely pathogenic

Condition: not provided
Cutis laxa, autosomal dominant

Criteria Provided
Single Submitter

rs_2139960687

2 SubmittersRCV001507851 RCV003447324

NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu)

SNV
Germline

ChrX:77989465

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

rs_1039952708

2 SubmittersRCV001508044 RCV001865932

NM_000052.7(ATP7A):c.4426A>T (p.Ser1476Cys)

SNV
Germline

ChrX:78046493

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

rs_1557239144

2 SubmittersRCV001508053 RCV002564225

NM_206943.4(LTBP1):c.4431T>A (p.Cys1477Ter)

SNV
Germline

Chr2:33364247

Pathogenic

Cutis laxa, autosomal recessive, type 2E

No Assertion Criteria Provided

rs_2150084747

1 SubmittersRCV001542240

NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter)

SNV
Germline

Chr2:33186996

Likely pathogenic

Cutis laxa, autosomal recessive, type 2E

Criteria Provided
Single Submitter

rs_1441358067

2 SubmittersRCV001542242

NM_000052.7(ATP7A):c.2917-4A>G

SNV
Germline

ChrX:78029246

Conflicting classifications of pathogenicity

Cutis laxa, X-linked

No Assertion Criteria Provided

rs_2149104823

2 SubmittersRCV001542629

NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)

SNV
Germline

ChrX:78003090

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
Inborn genetic diseases
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Conflicting Classifications

rs_139902461

4 SubmittersRCV001563571 RCV001836449 RCV002405249 RCV002569018

NM_002860.4(ALDH18A1):c.809-1G>A

SNV
Germline

Chr10:95628493

Likely pathogenic

Condition: not provided
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1202802893

2 SubmittersRCV001578147 RCV003771757

NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu)

SNV
Germline

ChrX:77989641

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
ATP7A-related disorder

Criteria Provided
Conflicting Classifications

rs_1557231845

6 SubmittersRCV001581620 RCV001836457 RCV001882701 RCV003399391

NM_000052.7(ATP7A):c.4006-11T>A

SNV
Germline

ChrX:78043306

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Conflicting Classifications

rs_1325784914

2 SubmittersRCV001752201 RCV002538772

NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg)

SNV
Germline

ChrX:78043369

Conflicting classifications of pathogenicity

Condition: not provided
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Conflicting Classifications

rs_781912153

2 SubmittersRCV001766948 RCV003107841

NM_002860.4(ALDH18A1):c.1172A>G (p.His391Arg)

SNV
Germline

Chr10:95625436

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

rs_774081826

3 SubmittersRCV001754831 RCV003247013 RCV003771983

NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp)

SNV
Germline

ChrX:78013019

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Conflicting Classifications

rs_1443260520

2 SubmittersRCV001754856 RCV003771984

NM_000052.7(ATP7A):c.2557G>T (p.Gly853Ter)

SNV
Unknown

ChrX:78015812

Likely pathogenic

Cutis laxa, X-linked

Criteria Provided
Single Submitter

rs_2149097380

1 SubmittersRCV001775413

NM_003573.2(LTBP4):c.76-1G>A

SNV
Germline

Chr19:40599401

Pathogenic

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Criteria Provided
Single Submitter

rs_781735457

1 SubmittersRCV001783619

NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val)

SNV
Germline

ChrX:77998615

Conflicting classifications of pathogenicity

Condition: not provided
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

rs_781874593

2 SubmittersRCV001786873 RCV002544302

NM_000158.4(GBE1):c.1459G>T (p.Asp487Tyr)

SNV
Germline

Chr3:81578084

Likely pathogenic

Cutis laxa, autosomal recessive, type 1B

Criteria Provided
Single Submitter

rs_2106933976

1 SubmittersRCV001806324

NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter)

SNV
Germline

Chr19:40611370

Conflicting classifications of pathogenicity

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Criteria Provided
Conflicting Classifications

rs_2146029786

2 SubmittersRCV001808882

NM_002860.4(ALDH18A1):c.1335C>T (p.Ala445=)

SNV
Germline

Chr10:95621163

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome

Criteria Provided
Conflicting Classifications

rs_771965130

2 SubmittersRCV001848330 RCV003772376

NM_002860.4(ALDH18A1):c.454-9A>G

SNV
Germline

Chr10:95637206

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome

Criteria Provided
Conflicting Classifications

rs_775098819

2 SubmittersRCV001848354 RCV003772377

NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile)

SNV
Germline

ChrX:78038919

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782026169

2 SubmittersRCV001892794 RCV002458720

NM_000052.7(ATP7A):c.2498+2T>G

SNV
Germline

ChrX:78014755

Likely pathogenic

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Single Submitter

rs_797045357

1 SubmittersRCV002019219

NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)

SNV
Germline

Chr7:74057655

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Williams syndrome
Supravalvar aortic stenosis
Condition: not provided
ELN-related disorder

Criteria Provided
Conflicting Classifications

rs_149117932

4 SubmittersRCV001947909 RCV002479410 RCV003149006 RCV004538614

NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter)

SNV
Germline

ChrX:78012892

Pathogenic

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Single Submitter

rs_2149095968

1 SubmittersRCV002044567

NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser)

SNV
Germline

ChrX:77989728

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1557231866

2 SubmittersRCV001887486 RCV002469424

NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys)

SNV
Germline

ChrX:77989382

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374855698

2 SubmittersRCV001878801 RCV002285509

NM_000052.7(ATP7A):c.2172+5G>A

SNV
Germline

ChrX:78011679

Likely pathogenic

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Single Submitter

rs_797045347

1 SubmittersRCV002049796

NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu)

SNV
Germline

ChrX:77988536

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

rs_1557231629

2 SubmittersRCV002036443 RCV004546698

NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln)

SNV
Germline

ChrX:78011213

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1557234412

2 SubmittersRCV001944995 RCV002407069

NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter)

SNV
Germline

ChrX:77989424

Pathogenic

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Single Submitter

rs_2149083118

1 SubmittersRCV001898748

NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter)

SNV
Germline

ChrX:78038884

Pathogenic

Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Menkes kinky-hair syndrome

Criteria Provided
Single Submitter

rs_2149109587

2 SubmittersRCV001951484 RCV003312030

NM_002860.4(ALDH18A1):c.933+1G>A

SNV
Germline

Chr10:95628367

Likely pathogenic

Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome

Criteria Provided
Single Submitter

rs_2139593958

1 SubmittersRCV003773210

NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp)

SNV
Germline

ChrX:78046430

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1457236338

3 SubmittersRCV001907023 RCV003490929 RCV004042729

NM_006907.4(PYCR1):c.540+1G>T

SNV
Germline

Chr17:81934925

Likely pathogenic

Autosomal recessive cutis laxa type 2B

Criteria Provided
Single Submitter

rs_752297179

1 SubmittersRCV002052152

NM_006907.4(PYCR1):c.556G>T (p.Asp186Tyr)

SNV
Germline

Chr17:81934730

Likely pathogenic

Autosomal recessive cutis laxa type 2B

Criteria Provided
Single Submitter

rs_2143872369

1 SubmittersRCV002052265

NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu)

SNV
Germline

ChrX:77971724

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782146244

2 SubmittersRCV002202210 RCV003161390

NM_000052.7(ATP7A):c.3511+8A>C

SNV
Germline

ChrX:78033829

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Menkes kinky-hair syndrome

Criteria Provided
Conflicting Classifications

rs_2149107265

2 SubmittersRCV002076413 RCV002471255

NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val)

SNV
Germline

ChrX:77989763

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Menkes kinky-hair syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1349223430

2 SubmittersRCV002096014 RCV003327553

NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val)

SNV
Germline

ChrX:78009150

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782444523

2 SubmittersRCV002110373 RCV003146516

NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu)

SNV
Germline

ChrX:78040707

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782428979

2 SubmittersRCV002134070 RCV002363673

NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys)

SNV
Germline

ChrX:78038857

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1557238006

2 SubmittersRCV002090753 RCV002993470

NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val)

SNV
Germline

ChrX:78012993

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

rs_2077837721

3 SubmittersRCV002259442 RCV003164367 RCV003774800

NM_000052.7(ATP7A):c.120+7T>C

SNV
Germline

ChrX:77971768

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

rs_2149073895

2 SubmittersRCV002273022 RCV003096147

NM_000052.7(ATP7A):c.1374A>G (p.Ser458=)

SNV
Germline

ChrX:77998515

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

rs_2077718812

2 SubmittersRCV002278082 RCV003101590

NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val)

SNV
Germline

ChrX:78011651

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

rs_1557234537

2 SubmittersRCV002278119 RCV003774911

NM_002860.4(ALDH18A1):c.408C>A (p.Ser136Arg)

SNV
Germline

Chr10:95637332

Likely pathogenic

Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003774999

NM_000052.7(ATP7A):c.526A>T (p.Lys176Ter)

SNV
Unknown

ChrX:77988647

Likely pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002306585

NM_000052.7(ATP7A):c.2110C>T (p.Gln704Ter)

SNV
Unknown

ChrX:78011612

Likely pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002306641

NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter)

SNV
Unknown

ChrX:77988414

Likely pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002307916

NM_000052.7(ATP7A):c.4040T>A (p.Leu1347Ter)

SNV
Unknown

ChrX:78043351

Likely pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002308371

NM_000052.7(ATP7A):c.2224A>T (p.Lys742Ter)

SNV
Unknown

ChrX:78012930

Likely pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002309199

NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter)

SNV
Unknown

ChrX:78043354

Likely pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002309249

NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter)

SNV
Unknown

ChrX:78009162

Likely pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002306848

NM_000052.7(ATP7A):c.3013G>T (p.Gly1005Ter)

SNV
Unknown

ChrX:78029346

Likely pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002307152

NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter)

SNV
Unknown

ChrX:78042636

Likely pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002310312

NM_000052.7(ATP7A):c.520A>T (p.Lys174Ter)

SNV
Unknown

ChrX:77988641

Likely pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002310349

NM_000052.7(ATP7A):c.349A>T (p.Lys117Ter)

SNV
Unknown

ChrX:77988470

Likely pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002310403

NM_000052.7(ATP7A):c.3289A>T (p.Lys1097Ter)

SNV
Unknown

ChrX:78031577

Likely pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002310436

NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter)

SNV
Unknown

ChrX:77988533

Likely pathogenic

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002310520

NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)

SNV
Germline

ChrX:78031404

Conflicting classifications of pathogenicity

Inborn genetic diseases
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002320433 RCV003099210

NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)

SNV
Germline

ChrX:78003147

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003988006 RCV002401012 RCV003097014

NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)

SNV
Germline

ChrX:78009251

Conflicting classifications of pathogenicity

Inborn genetic diseases
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002413112 RCV003097300

NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)

SNV
Germline

ChrX:78012957

Conflicting classifications of pathogenicity

Inborn genetic diseases
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002443551 RCV003101168 RCV003318724

NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)

SNV
Germline

ChrX:78014719

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003101848 RCV002455503

NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)

SNV
Germline

ChrX:77988402

Conflicting classifications of pathogenicity

Inborn genetic diseases
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002441801 RCV003102753

NM_001042545.2(LTBP4):c.1426+1G>T

SNV
Germline

Chr19:40608604

Likely pathogenic

Cutis laxa

Criteria Provided
Single Submitter

1 SubmittersRCV002470046

NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)

SNV
Germline

ChrX:77988620

Pathogenic

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV003064740 RCV003312069

NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)

SNV
Germline

ChrX:78045499

Pathogenic

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV003050627 RCV003312071

NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)

SNV
Germline

ChrX:78012948

Conflicting classifications of pathogenicity

X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Cutis laxa, X-linked
Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003084952 RCV003333231 RCV003333232 RCV003333233

NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)

SNV
Germline

Chr10:95643063

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 3
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003314750 RCV003777571

NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr)

SNV
Germline

ChrX:77971697

Conflicting classifications of pathogenicity

Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Menkes kinky-hair syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002664044 RCV004072109

NM_006907.4(PYCR1):c.151A>T (p.Lys51Ter)

SNV
Germline

Chr17:81935504

Likely pathogenic

Cutis laxa

Criteria Provided
Single Submitter

1 SubmittersRCV002510435

NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)

SNV
Germline

ChrX:77989878

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002775832 RCV003146631

NM_002860.4(ALDH18A1):c.1152+1G>A

SNV
Germline

Chr10:95626702

Likely pathogenic

Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003777006

NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)

SNV
Germline

ChrX:77988290

Pathogenic

Cutis laxa, X-linked
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Single Submitter

1 SubmittersRCV002820783

NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)

SNV
Germline

ChrX:77989907

Pathogenic

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002871867

NM_000052.7(ATP7A):c.610+2T>C

SNV
Germline

ChrX:77988733

Likely pathogenic

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002866988

NM_002860.4(ALDH18A1):c.1993C>T (p.Arg665Ter)

SNV
Germline

Chr10:95611373

Pathogenic

Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Cutis laxa, autosomal dominant 3

Criteria Provided
Single Submitter

1 SubmittersRCV003777028

NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)

SNV
Germline

ChrX:78011251

Pathogenic

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV002953115

NM_016938.5(EFEMP2):c.247C>T (p.Arg83Cys)

SNV
Germline

Chr11:65871277

Likely pathogenic

Cutis laxa, autosomal recessive, type 1B

Criteria Provided
Single Submitter

1 SubmittersRCV003128367

NM_001042545.2(LTBP4):c.3298C>T (p.Arg1100Ter)

SNV
Germline

Chr19:40622481

Likely pathogenic

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Criteria Provided
Single Submitter

1 SubmittersRCV003225799

NM_002860.4(ALDH18A1):c.377G>A (p.Arg126His)

SNV
Germline

Chr10:95637363

Likely pathogenic

Cutis laxa, autosomal dominant 3

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003142512

NM_001042545.2(LTBP4):c.608T>A (p.Leu203Ter)

SNV
Germline

Chr19:40605570

Likely pathogenic

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Criteria Provided
Single Submitter

1 SubmittersRCV003221330

NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)

SNV
Germline

ChrX:78029444

Pathogenic

Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Single Submitter

2 SubmittersRCV003312827 RCV003777273

NM_000052.7(ATP7A):c.4005+5G>A

SNV
Germline

ChrX:78042793

Likely pathogenic

Menkes kinky-hair syndrome
Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Single Submitter

2 SubmittersRCV003312872 RCV003777274

NM_000052.7(ATP7A):c.1544-872C>G

SNV
Germline

ChrX:78002201

Pathogenic

Cutis laxa, X-linked

No Assertion Criteria Provided

1 SubmittersRCV003388229

NM_001690.4(ATP6V1A):c.299A>T (p.Asp100Val)

SNV
Germline

Chr3:113784311

Likely pathogenic

Epileptic encephalopathy, infantile or early childhood, 3
Autosomal recessive cutis laxa type 2D

Criteria Provided
Single Submitter

1 SubmittersRCV003389392

NM_016938.5(EFEMP2):c.368-2A>G

SNV
Germline

Chr11:65870660

Likely pathogenic

Cutis laxa, autosomal recessive, type 1B

Criteria Provided
Single Submitter

1 SubmittersRCV003644188

NM_001042545.2(LTBP4):c.1045G>C (p.Gly349Arg)

SNV
Germline

Chr19:40607418

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003733976 RCV004546807

NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)

SNV
Germline

ChrX:78011555

Pathogenic

Menkes kinky-hair syndrome
Cutis laxa, X-linked
X-linked distal spinal muscular atrophy type 3

Criteria Provided
Single Submitter

1 SubmittersRCV003782762

NM_000052.7(ATP7A):c.2305A>G (p.Met769Val)

SNV
Germline

ChrX:78013011

Conflicting classifications of pathogenicity

Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa, X-linked
ATP7A-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003788296 RCV003919381

NM_002860.4(ALDH18A1):c.1468-2A>C

SNV
Germline

Chr10:95616616

Likely pathogenic

Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003799951

NM_016938.5(EFEMP2):c.976C>G (p.Arg326Gly)

SNV
Germline

Chr11:65868055

Pathogenic

Cutis laxa, autosomal recessive, type 1B

Criteria Provided
Single Submitter

1 SubmittersRCV003990639

NM_016938.5(EFEMP2):c.1009C>T (p.Arg337Ter)

SNV
Germline

Chr11:65868022

Likely pathogenic

Cutis laxa

Criteria Provided
Single Submitter

1 SubmittersRCV004018137