Total 242 pathogenic variants reported for Cutis laxa, X-linked 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
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 SubmittersRCV000012549RCV000195239
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 SubmittersRCV000012551RCV001851805
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 SubmittersRCV000012559RCV000194377RCV003238723
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 SubmittersRCV000012560RCV000725792RCV001231166
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 SubmittersRCV000012562RCV000789728RCV001206423RCV001696176
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 SubmittersRCV000193566RCV000721073RCV000724715RCV001274233RCV001086885
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 SubmittersRCV000194461RCV001857688
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 SubmittersRCV000193020RCV000534012RCV001274230RCV001573423RCV002277449RCV002314787
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 SubmittersRCV000194736RCV000807620
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 SubmittersRCV000195126RCV003765212
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 SubmittersRCV000193177RCV002517056
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 SubmittersRCV000193235RCV000757017RCV001271473
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 SubmittersRCV000194915RCV001330731
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 SubmittersRCV000193917RCV001044291
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 SubmittersRCV000193991RCV001857689RCV002517916RCV003227709
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 SubmittersRCV000193280RCV000578755RCV001274025
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 SubmittersRCV000192884RCV000999938RCV000757015RCV001085085RCV002277450RCV003907676RCV002433862
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 SubmittersRCV000193405RCV002517917RCV003231369
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 SubmittersRCV000194077RCV000543168
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 SubmittersRCV000194531RCV000527923RCV001081638RCV002277451RCV002372162
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 SubmittersRCV000193560RCV001852548
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 SubmittersRCV000237067RCV002518449
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 SubmittersRCV000529093RCV001085537RCV003311726RCV002450718
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 SubmittersRCV000236093RCV000878391RCV002277594RCV002450722
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 SubmittersRCV000235848RCV000784893RCV001084874RCV002277595RCV002321900
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 SubmittersRCV000236986RCV000877920
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 SubmittersRCV000385771RCV001859571
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 SubmittersRCV000725407RCV001085214RCV002314011
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 SubmittersRCV000725408RCV001080192RCV002314012
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 SubmittersRCV000368289RCV001078732RCV001833356
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 SubmittersRCV000414022RCV000530559RCV001828381RCV003144246RCV002436234
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 SubmittersRCV000413911RCV001835789RCV002523950
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 SubmittersRCV000416018RCV001087633
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 SubmittersRCV000430636RCV001454784
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 SubmittersRCV000429551RCV001080223
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 SubmittersRCV000445022RCV001196180RCV001085591RCV001274227RCV002279202RCV002348215
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 SubmittersRCV000443197RCV001035427
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 SubmittersRCV000426016RCV001089330RCV002282146
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 SubmittersRCV000444044RCV001508048RCV001861618RCV002402192RCV001833557
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 SubmittersRCV000640892RCV001722409RCV002329161
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 SubmittersRCV000487621RCV001362009
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 SubmittersRCV001241257RCV001696820RCV001835828RCV003424044
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 SubmittersRCV001241258RCV001712456RCV001834599RCV003419831
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 SubmittersRCV000521317RCV003766966
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 SubmittersRCV000523020RCV001079767
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 SubmittersRCV000520631RCV001834711RCV002527654
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 SubmittersRCV000545476RCV002279348RCV002330881
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 SubmittersRCV000550411RCV001547294RCV001834780
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 SubmittersRCV000549839RCV002265795RCV001764568RCV002367848RCV003900169
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 SubmittersRCV000541241RCV000608309
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 SubmittersRCV000555196RCV001508049RCV002431615
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_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 SubmittersRCV000585324RCV001829613RCV001510001
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 SubmittersRCV000585598RCV001483521
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 SubmittersRCV000615428RCV001755993RCV003767739
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 SubmittersRCV000624547RCV000687489RCV001829743RCV003151797
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 SubmittersRCV000842321RCV001089200RCV002252186RCV002449009
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 SubmittersRCV000640895RCV001508046RCV002388073
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 SubmittersRCV000640891RCV001756068RCV002449008
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 SubmittersRCV000640908RCV001726282
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 SubmittersRCV000640890RCV001835031RCV002424438
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 SubmittersRCV000658425RCV001829823RCV002536328
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 SubmittersRCV000658090RCV001835901RCV002534270
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 SubmittersRCV000659169RCV002536336
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 SubmittersRCV000703372RCV001508045RCV003380695
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 SubmittersRCV000821440RCV002318870
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 SubmittersRCV000990879RCV001862055RCV002318099RCV003908003
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 SubmittersRCV002314494RCV003768130
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 SubmittersRCV001466222RCV002318876
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 SubmittersRCV000793378RCV002279531
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 SubmittersRCV000816879RCV001825642
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 SubmittersRCV000803726RCV002345800
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 SubmittersRCV000804376RCV001830742RCV003117594
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 SubmittersRCV000818218RCV001552958RCV002415920
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 SubmittersRCV000809589RCV001835973RCV003314649
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 SubmittersRCV000792466RCV001830686RCV003437428
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 SubmittersRCV000823770RCV001825672RCV002408994
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 SubmittersRCV000841351RCV001490968RCV001830855RCV002279557
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 SubmittersRCV000873628RCV003438531
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 SubmittersRCV000952590RCV001274228RCV003438626RCV002391004RCV002546039
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 SubmittersRCV001000803RCV001435844
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 SubmittersRCV000907741RCV002416121
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 SubmittersRCV001277502RCV001404689RCV002332942
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 SubmittersRCV000983812RCV001274229RCV003145243
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 SubmittersRCV001070428RCV001833668RCV002379625
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 SubmittersRCV001058784RCV002402423RCV001274231
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 SubmittersRCV001050454RCV002252300RCV001535156
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 SubmittersRCV001043827RCV002348365
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_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 SubmittersRCV001198146RCV001379325
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 SubmittersRCV001196121RCV003770201
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 SubmittersRCV001217137RCV001569797RCV001833889
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 SubmittersRCV001236422RCV002469357
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 SubmittersRCV001243858RCV001565809RCV001835185RCV003479302
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 SubmittersRCV001240815RCV001834131RCV002418825
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 SubmittersRCV001241547RCV001828980RCV001252421RCV002322147
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 SubmittersRCV001243392RCV001559244RCV001559246RCV001559245RCV002327588
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 SubmittersRCV001254118RCV003311971
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 SubmittersRCV001277501RCV002069400RCV002276673
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 SubmittersRCV001319490RCV001760397
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 SubmittersRCV001323210RCV003442846
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 SubmittersRCV001897867RCV003328684
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 SubmittersRCV001338453RCV003232315
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 SubmittersRCV001366288RCV003145627
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 SubmittersRCV001475026RCV002329571
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 SubmittersRCV001508044RCV001865932
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 SubmittersRCV001508053RCV002564225
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 SubmittersRCV001563571RCV001836449RCV002405249RCV002569018
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 SubmittersRCV001581620RCV001836457RCV001882701RCV003399391
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 SubmittersRCV001752201RCV002538772
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 SubmittersRCV001766948RCV003107841
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 SubmittersRCV001754856RCV003771984
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_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 SubmittersRCV001786873RCV002544302
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 SubmittersRCV001892794RCV002458720
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_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 SubmittersRCV001887486RCV002469424
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 SubmittersRCV001878801RCV002285509
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 SubmittersRCV002036443RCV004546698
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 SubmittersRCV001944995RCV002407069
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 SubmittersRCV001951484RCV003312030
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 SubmittersRCV001907023RCV003490929RCV004042729
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 SubmittersRCV002202210RCV003161390
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 SubmittersRCV002076413RCV002471255
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 SubmittersRCV002096014RCV003327553
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 SubmittersRCV002110373RCV003146516
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 SubmittersRCV002134070RCV002363673
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 SubmittersRCV002090753RCV002993470
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 SubmittersRCV002259442RCV003164367RCV003774800
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 SubmittersRCV002273022RCV003096147
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 SubmittersRCV002278082RCV003101590
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 SubmittersRCV002278119RCV003774911
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 SubmittersRCV002320433RCV003099210
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 SubmittersRCV003988006RCV002401012RCV003097014
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 SubmittersRCV002413112RCV003097300
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 SubmittersRCV002443551RCV003101168RCV003318724
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 SubmittersRCV003101848RCV002455503
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 SubmittersRCV002441801RCV003102753
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 SubmittersRCV003064740RCV003312069
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 SubmittersRCV003050627RCV003312071
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 SubmittersRCV003084952RCV003333231RCV003333232RCV003333233
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 SubmittersRCV002664044RCV004072109
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 SubmittersRCV002775832RCV003146631
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_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_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 SubmittersRCV003312827RCV003777273
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 SubmittersRCV003312872RCV003777274
NM_000052.7(ATP7A):c.1544-872C>G SNV
Germline		 ChrX:78002201 Pathogenic Cutis laxa, X-linked No Assertion Criteria Provided

1 SubmittersRCV003388229
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 SubmittersRCV003788296RCV003919381