Total 70 pathogenic variants reported for Nance-Horan syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter) SNV
Germline		 ChrX:17724370 Pathogenic Nance-Horan syndrome
Condition: not provided
Cataract 40		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121306 rs_132630322

5 SubmittersRCV000011772RCV000082793RCV004549356
NM_001291867.2(NHS):c.115C>T (p.Gln39Ter) SNV
Germline		 ChrX:17375872 Pathogenic Nance-Horan syndrome No Assertion Criteria Provided
 CA121309 rs_104894881

1 SubmittersRCV000011774
NM_001291867.2(NHS):c.916-2A>G SNV
Germline		 ChrX:17721439 Pathogenic Nance-Horan syndrome No Assertion Criteria Provided
 CA121311 rs_786205257

1 SubmittersRCV000011775
NM_001291867.2(NHS):c.513C>T (p.Leu171=) SNV
Germline		 ChrX:17376270 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications
 CA224378 rs_398124610

5 SubmittersRCV000082805RCV000723670RCV002336241RCV002514452
NM_001291867.2(NHS):c.765C>G (p.Pro255=) SNV
Germline		 ChrX:17692381 Conflicting classifications of pathogenicity Condition: not provided
Nance-Horan syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA224380 rs_143119491

3 SubmittersRCV000082807RCV001089186RCV002390248
NM_001291867.2(NHS):c.2047G>A (p.Val683Met) SNV
Germline		 ChrX:17726153 Conflicting classifications of pathogenicity Condition: not provided
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications
 CA231331 rs_587780403

2 SubmittersRCV000117787RCV003621503
NM_001291867.2(NHS):c.766C>G (p.Leu256Val) SNV
Germline		 ChrX:17692382 Conflicting classifications of pathogenicity not specified
Nance-Horan syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA231333 rs_200598087

3 SubmittersRCV000117794RCV002528221RCV002390267
NM_001291867.2(NHS):c.152C>T (p.Ala51Val) SNV
Germline		 ChrX:17375909 Conflicting classifications of pathogenicity Condition: not provided
Nance-Horan syndrome
Cataract 40
Nance-Horan syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA234375 rs_727504039

4 SubmittersRCV000153563RCV000764867RCV001349017RCV002316969
NM_001291867.2(NHS):c.618G>A (p.Pro206=) SNV
Germline		 ChrX:17687794 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications
 CA234378 rs_200952266

3 SubmittersRCV000153565RCV002354359RCV003621506
NM_001291867.2(NHS):c.1143C>T (p.Cys381=) SNV
Germline		 ChrX:17724333 Conflicting classifications of pathogenicity Condition: not provided
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications
 CA234382 rs_727504042

3 SubmittersRCV000153567RCV002516084
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) SNV
Germline		 ChrX:17727480 Conflicting classifications of pathogenicity not specified
Nance-Horan syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA203353 rs_145005596

4 SubmittersRCV000179566RCV000876610RCV002317057
NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg) SNV
Germline		 ChrX:17725433 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications
 CA246847 rs_371229391

3 SubmittersRCV000179568RCV002444719RCV003509508
NM_001291867.2(NHS):c.1603G>A (p.Val535Met) SNV
Germline		 ChrX:17725709 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications
 CA246849 rs_367856134

3 SubmittersRCV000179569RCV002399640RCV001520145
NM_001291867.2(NHS):c.4860G>C (p.Arg1620=) SNV
Germline		 ChrX:17732368 Conflicting classifications of pathogenicity Condition: not provided
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications
 CA247829 rs_761212213

2 SubmittersRCV000180385RCV003621511
NM_001291867.2(NHS):c.1175G>A (p.Arg392Gln) SNV
Germline		 ChrX:17724365 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications
 CA204863 rs_372969054

3 SubmittersRCV000190792RCV000594957RCV002514089
NM_001291867.2(NHS):c.1163C>T (p.Ser388Leu) SNV
Germline		 ChrX:17724353 Conflicting classifications of pathogenicity not specified
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications
 CA207668 rs_150689121

2 SubmittersRCV000193889RCV003621519
NM_001291867.2(NHS):c.694C>T (p.Gln232Ter) SNV
Germline		 ChrX:17687870 Likely pathogenic Nance-Horan syndrome Criteria Provided
Single Submitter
 CA10576136 rs_875989805

1 SubmittersRCV000211110
NM_001291867.2(NHS):c.3891C>T (p.Asp1297=) SNV
Germline		 ChrX:17727997 Conflicting classifications of pathogenicity Condition: not provided
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications
 CA10358863 rs_761463158

2 SubmittersRCV000344033RCV002519097
NM_001291867.2(NHS):c.4448C>G (p.Ser1483Cys) SNV
Germline		 ChrX:17731956 Pathogenic Nance-Horan syndrome
X-linked syndromic intellectual disability		 Criteria Provided
Single Submitter
 CA412370422 rs_1481421967

1 SubmittersRCV000498961
NM_001291867.2(NHS):c.565+5G>A SNV
Germline		 ChrX:17376327 Conflicting classifications of pathogenicity Condition: not provided
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications
 CA16621266 rs_1064795101

2 SubmittersRCV000483234RCV002526598
NM_001291867.2(NHS):c.277G>T (p.Glu93Ter) SNV
Germline		 ChrX:17376034 Pathogenic Nance-Horan syndrome Criteria Provided
Single Submitter
 CA412484409 rs_1341004065

1 SubmittersRCV000526164
NM_001291867.2(NHS):c.4156A>T (p.Lys1386Ter) SNV
Germline		 ChrX:17728262 Pathogenic Nance-Horan syndrome Criteria Provided
Single Submitter
 CA412367586 rs_1556039901

1 SubmittersRCV000539510
NM_001291867.2(NHS):c.1231C>T (p.Gln411Ter) SNV
Germline		 ChrX:17724421 Pathogenic Inborn genetic diseases
Nance-Horan syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412350271 rs_1556038028

2 SubmittersRCV000623307RCV001860427
NM_001291867.2(NHS):c.2909C>T (p.Thr970Met) SNV
Germline		 ChrX:17727015 Conflicting classifications of pathogenicity Nance-Horan syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10358774 rs_373464879

2 SubmittersRCV000638458RCV002438693
NM_001291867.2(NHS):c.2477G>A (p.Trp826Ter) SNV
Germline		 ChrX:17726583 Pathogenic Nance-Horan syndrome Criteria Provided
Single Submitter
 rs_1569319773

1 SubmittersRCV000691139
NM_001291867.2(NHS):c.814C>T (p.Gln272Ter) SNV
Germline		 ChrX:17692430 Pathogenic Nance-Horan syndrome Criteria Provided
Single Submitter
 rs_1569310288

1 SubmittersRCV000699776
NM_001291867.2(NHS):c.2905G>A (p.Ala969Thr) SNV
Germline		 ChrX:17727011 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications
 rs_762685365

3 SubmittersRCV003437414RCV002315422RCV003621566
NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met) SNV
Germline		 ChrX:17727891 Conflicting classifications of pathogenicity Inborn genetic diseases
Nance-Horan syndrome
NHS-related disorder		 Criteria Provided
Conflicting Classifications
 rs_141013518

3 SubmittersRCV002315339RCV002533020RCV003918168
NM_001291867.2(NHS):c.742C>T (p.Arg248Ter) SNV
Germline		 ChrX:17692358 Pathogenic Condition: not provided
Nance-Horan syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1569310232

2 SubmittersRCV000760381RCV000816102
NM_001291867.2(NHS):c.719-1G>A SNV
Unknown		 ChrX:17692334 Likely pathogenic Nance-Horan syndrome Criteria Provided
Single Submitter
 rs_1601838818

1 SubmittersRCV000990474
NM_001291867.2(NHS):c.375C>A (p.Cys125Ter) SNV
Germline		 ChrX:17376132 Pathogenic Nance-Horan syndrome Criteria Provided
Single Submitter
 rs_2064345759

1 SubmittersRCV001055102
NM_001291867.2(NHS):c.502C>T (p.Gln168Ter) SNV
Germline		 ChrX:17376259 Pathogenic Nance-Horan syndrome Criteria Provided
Single Submitter
 rs_1484691355

1 SubmittersRCV001044162
NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu) SNV
Germline		 ChrX:17724418 Conflicting classifications of pathogenicity Cataract 40
Nance-Horan syndrome
Inborn genetic diseases
NHS-related disorder		 Criteria Provided
Conflicting Classifications
 rs_375878222

4 SubmittersRCV001195970RCV003117838RCV002561043RCV003953578
NM_001291867.2(NHS):c.822G>A (p.Arg274=) SNV
Germline		 ChrX:17692438 Conflicting classifications of pathogenicity Nance-Horan syndrome Criteria Provided
Conflicting Classifications
 rs_1192420369

2 SubmittersRCV001328827
NM_001291867.2(NHS):c.1159C>T (p.Gln387Ter) SNV
Germline		 ChrX:17724349 Pathogenic Nance-Horan syndrome Criteria Provided
Single Submitter
 rs_2147140951

1 SubmittersRCV001383317
NM_001291867.2(NHS):c.322G>A (p.Glu108Lys) SNV
Germline		 ChrX:17376079 Conflicting classifications of pathogenicity Nance-Horan syndrome
Condition: not provided
Inborn genetic diseases
NHS-related disorder		 Criteria Provided
Conflicting Classifications
 rs_773995388

4 SubmittersRCV001513032RCV002070289RCV002564315RCV003940907
NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe) SNV
Germline		 ChrX:17732445 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications
 rs_374462247

5 SubmittersRCV001531129RCV002334583RCV002568891
NM_001291867.2(NHS):c.916-2A>T SNV
Germline		 ChrX:17721439 Pathogenic Nance-Horan syndrome Criteria Provided
Single Submitter
 rs_786205257

1 SubmittersRCV001934740
NM_001291867.2(NHS):c.4315C>T (p.Arg1439Ter) SNV
Germline		 ChrX:17728741 Pathogenic Nance-Horan syndrome Criteria Provided
Single Submitter
 rs_2147145827

1 SubmittersRCV001975049
NM_001291867.2(NHS):c.100C>A (p.Pro34Thr) SNV
Germline		 ChrX:17375857 Conflicting classifications of pathogenicity Inborn genetic diseases
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002441337RCV003102213
NM_001291867.2(NHS):c.3385C>G (p.Pro1129Ala) SNV
Germline		 ChrX:17727491 Conflicting classifications of pathogenicity Nance-Horan syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002647420RCV004070695
NM_001291867.2(NHS):c.1835C>T (p.Thr612Met) SNV
Germline		 ChrX:17725941 Conflicting classifications of pathogenicity Inborn genetic diseases
Nance-Horan syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003162097RCV002664067
NM_001291867.2(NHS):c.2225G>A (p.Arg742His) SNV
Germline		 ChrX:17726331 Conflicting classifications of pathogenicity Nance-Horan syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002904367RCV002904368
NM_001291867.2(NHS):c.2897C>A (p.Ser966Ter) SNV
Germline		 ChrX:17727003 Pathogenic Nance-Horan syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003510373
NM_001291867.2(NHS):c.3532A>G (p.Ser1178Gly) SNV
Germline		 ChrX:17727638 Conflicting classifications of pathogenicity Nance-Horan syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003866970RCV003885390
NM_001291867.2(NHS):c.1108+1G>A SNV
Germline		 ChrX:17721634 Likely pathogenic Nance-Horan syndrome
Cataract 40		 Criteria Provided
Single Submitter

1 SubmittersRCV003985989