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	Condition: not provided Nance-Horan syndrome Cataract 40	Criteria Provided Multiple Submitters No Conflicts	CA121306	rs_132630322	5 SubmittersRCV000082793 RCV000011772 RCV004549356
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 SubmittersRCV000082805 RCV000723670 RCV002336241 RCV002514452
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 SubmittersRCV000082807 RCV001089186 RCV002390248
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 SubmittersRCV000117787 RCV003621503
NM_001291867.2(NHS):c.766C>G (p.Leu256Val)	SNV Germline	ChrX:17692382	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Nance-Horan syndrome	Criteria Provided Conflicting Classifications	CA231333	rs_200598087	3 SubmittersRCV000117794 RCV002390267 RCV002528221
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	5 SubmittersRCV000153563 RCV001349017 RCV000764867 RCV002316969
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 SubmittersRCV000153565 RCV002354359 RCV003621506
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 SubmittersRCV000153567 RCV002516084
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)	SNV Germline	ChrX:17727480	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Nance-Horan syndrome Intellectual disability	Criteria Provided Conflicting Classifications	CA203353	rs_145005596	5 SubmittersRCV000179566 RCV002317057 RCV000876610 RCV005625386
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 SubmittersRCV000179568 RCV002444719 RCV003509508
NM_001291867.2(NHS):c.1603G>A (p.Val535Met)	SNV Germline	ChrX:17725709	Conflicting classifications of pathogenicity	Condition: not provided Nance-Horan syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246849	rs_367856134	3 SubmittersRCV000179569 RCV001520145 RCV002399640
NM_001291867.2(NHS):c.3408G>A (p.Thr1136=)	SNV Germline	ChrX:17727514	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Nance-Horan syndrome	Criteria Provided Conflicting Classifications	CA246851	rs_370811549	4 SubmittersRCV000179570 RCV002321708 RCV005089896
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 SubmittersRCV000180385 RCV003621511
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 Intellectual disability	Criteria Provided Conflicting Classifications	CA204863	rs_372969054	4 SubmittersRCV000190792 RCV000594957 RCV002514089 RCV005625420
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 SubmittersRCV000193889 RCV003621519
NM_001291867.2(NHS):c.694C>T (p.Gln232Ter)	SNV Germline	ChrX:17687870	Likely pathogenic	Nance-Horan syndrome NHS-related disorder	Criteria Provided Single Submitter	CA10576136	rs_875989805	2 SubmittersRCV000211110 RCV004730908
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 SubmittersRCV000344033 RCV002519097
NM_001291867.2(NHS):c.4448C>G (p.Ser1483Cys)	SNV Germline	ChrX:17731956	Pathogenic	X-linked syndromic intellectual disability Nance-Horan syndrome	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 SubmittersRCV000483234 RCV002526598
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 SubmittersRCV000623307 RCV001860427
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 SubmittersRCV000638458 RCV002438693
NM_001291867.2(NHS):c.2477G>A (p.Trp826Ter)	SNV Germline	ChrX:17726583	Pathogenic	Nance-Horan syndrome	Criteria Provided Single Submitter	CA412358716	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	CA412327309	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	CA10358773	rs_762685365	3 SubmittersRCV003437414 RCV002315422 RCV003621566
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	CA10358852	rs_141013518	3 SubmittersRCV002315339 RCV002533020 RCV003918168
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	CA412326876	rs_1569310232	2 SubmittersRCV000760381 RCV000816102
NM_001291867.2(NHS):c.719-1G>A	SNV Unknown	ChrX:17692334	Likely pathogenic	Nance-Horan syndrome	Criteria Provided Single Submitter	CA412326771	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	CA412484612	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	CA412484883	rs_1484691355	1 SubmittersRCV001044162
NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu)	SNV Germline	ChrX:17724418	Conflicting classifications of pathogenicity	Cataract 40 Inborn genetic diseases Nance-Horan syndrome NHS-related disorder	Criteria Provided Conflicting Classifications	CA10358589	rs_375878222	4 SubmittersRCV001195970 RCV002561043 RCV003117838 RCV003953578
NM_001291867.2(NHS):c.822G>A (p.Arg274=)	SNV Germline	ChrX:17692438	Conflicting classifications of pathogenicity	Nance-Horan syndrome	Criteria Provided Conflicting Classifications	CA515466336	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	CA412349879	rs_2147140951	1 SubmittersRCV001383317
NM_001291867.2(NHS):c.322G>A (p.Glu108Lys)	SNV Germline	ChrX:17376079	Conflicting classifications of pathogenicity	Condition: not provided Nance-Horan syndrome Inborn genetic diseases NHS-related disorder	Criteria Provided Conflicting Classifications	CA10358432	rs_773995388	4 SubmittersRCV002070289 RCV001513032 RCV002564315 RCV003940907
NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe)	SNV Germline	ChrX:17732445	Conflicting classifications of pathogenicity	Condition: not provided Nance-Horan syndrome Inborn genetic diseases Intellectual disability	Criteria Provided Conflicting Classifications	CA10358968	rs_374462247	6 SubmittersRCV001531129 RCV002568891 RCV002334583 RCV005622116
NM_001291867.2(NHS):c.916-2A>T	SNV Germline	ChrX:17721439	Pathogenic	Nance-Horan syndrome	Criteria Provided Single Submitter	CA412347820	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	CA412368900	rs_2147145827	1 SubmittersRCV001975049
NM_001291867.2(NHS):c.743G>A (p.Arg248Gln)	SNV Germline	ChrX:17692359	Conflicting classifications of pathogenicity	See cases Nance-Horan syndrome	Criteria Provided Conflicting Classifications	CA326964673	rs_763162787	2 SubmittersRCV002252632 RCV005095864
NM_001291867.2(NHS):c.519C>T (p.Gly173=)	SNV Germline	ChrX:17376276	Conflicting classifications of pathogenicity	Inborn genetic diseases Nance-Horan syndrome	Criteria Provided Conflicting Classifications	CA515584731	rs_2064346850	2 SubmittersRCV002338566 RCV005058414
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	CA327283544	rs_954088519	2 SubmittersRCV002441337 RCV003102213
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	CA412363947	rs_1216332385	2 SubmittersRCV002647420 RCV004070695
NM_001291867.2(NHS):c.1835C>T (p.Thr612Met)	SNV Germline	ChrX:17725941	Conflicting classifications of pathogenicity	Nance-Horan syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10358665	rs_745597127	2 SubmittersRCV002664067 RCV003162097
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	CA10358702	rs_369653594	2 SubmittersRCV002904367 RCV002904368
NM_001291867.2(NHS):c.3314G>A (p.Arg1105His)	SNV Germline	ChrX:17727420	Conflicting classifications of pathogenicity	Nance-Horan syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10358812	rs_749270448	2 SubmittersRCV003009239 RCV004960887
NM_001291867.2(NHS):c.1928C>T (p.Ser643Leu)	SNV Germline	ChrX:17726034	Conflicting classifications of pathogenicity	Nance-Horan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA412355443	rs_2519935536	2 SubmittersRCV003034299 RCV005235678
NM_001291867.2(NHS):c.4087A>G (p.Ile1363Val)	SNV Germline	ChrX:17728193	Conflicting classifications of pathogenicity	Inborn genetic diseases Nance-Horan syndrome	Criteria Provided Conflicting Classifications	CA326968100	rs_150554808	2 SubmittersRCV003290336 RCV005102583
NM_001291867.2(NHS):c.3842G>A (p.Arg1281His)	SNV Germline	ChrX:17727948	Conflicting classifications of pathogenicity	Nance-Horan syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10358860	rs_138895219	3 SubmittersRCV003511129 RCV004696549 RCV004953317
NM_001291867.2(NHS):c.2897C>A (p.Ser966Ter)	SNV Germline	ChrX:17727003	Pathogenic	Nance-Horan syndrome	Criteria Provided Single Submitter	CA412360962	rs_2519938626	1 SubmittersRCV003510373
NM_001291867.2(NHS):c.1466A>G (p.Lys489Arg)	SNV Germline	ChrX:17725572	Conflicting classifications of pathogenicity	Nance-Horan syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA10358622	rs_149877928	3 SubmittersRCV003815951 RCV004953552 RCV005242442
NM_001291867.2(NHS):c.2714A>G (p.Asn905Ser)	SNV Germline	ChrX:17726820	Conflicting classifications of pathogenicity	Nance-Horan syndrome not specified	Criteria Provided Conflicting Classifications	CA412360087	rs_1169366418	2 SubmittersRCV003841284 RCV005435326
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	CA10358832	rs_755219421	2 SubmittersRCV003866970 RCV003885390
NM_001291867.2(NHS):c.1108+1G>A	SNV Germline	ChrX:17721634	Likely pathogenic	Nance-Horan syndrome Cataract 40	Criteria Provided Single Submitter	CA412348587	rs_2519927569	1 SubmittersRCV003985989
NM_001291867.2(NHS):c.719-1G>T	SNV Germline	ChrX:17692334	Pathogenic	Cataract 40 Nance-Horan syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004795781
NM_001291867.2(NHS):c.2472T>A (p.Cys824Ter)	SNV Germline	ChrX:17726578	Likely pathogenic	Nance-Horan syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005208238
NM_001291867.2(NHS):c.906G>A (p.Trp302Ter)	SNV Germline	ChrX:17719397	Likely pathogenic	Nance-Horan syndrome Cataract 40	Criteria Provided Single Submitter			1 SubmittersRCV005412225

NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter)

SNV
Germline

ChrX:17724370

Pathogenic

Condition: not provided
Nance-Horan syndrome
Cataract 40

Criteria Provided
Multiple Submitters
No Conflicts

CA121306

rs_132630322

5 SubmittersRCV000082793 RCV000011772 RCV004549356

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 SubmittersRCV000082805 RCV000723670 RCV002336241 RCV002514452

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 SubmittersRCV000082807 RCV001089186 RCV002390248

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 SubmittersRCV000117787 RCV003621503

NM_001291867.2(NHS):c.766C>G (p.Leu256Val)

SNV
Germline

ChrX:17692382

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Nance-Horan syndrome

Criteria Provided
Conflicting Classifications

CA231333

rs_200598087

3 SubmittersRCV000117794 RCV002390267 RCV002528221

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

5 SubmittersRCV000153563 RCV001349017 RCV000764867 RCV002316969

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 SubmittersRCV000153565 RCV002354359 RCV003621506

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 SubmittersRCV000153567 RCV002516084

NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)

SNV
Germline

ChrX:17727480

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Nance-Horan syndrome
Intellectual disability

Criteria Provided
Conflicting Classifications

CA203353

rs_145005596

5 SubmittersRCV000179566 RCV002317057 RCV000876610 RCV005625386

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 SubmittersRCV000179568 RCV002444719 RCV003509508

NM_001291867.2(NHS):c.1603G>A (p.Val535Met)

SNV
Germline

ChrX:17725709

Conflicting classifications of pathogenicity

Condition: not provided
Nance-Horan syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246849

rs_367856134

3 SubmittersRCV000179569 RCV001520145 RCV002399640

NM_001291867.2(NHS):c.3408G>A (p.Thr1136=)

SNV
Germline

ChrX:17727514

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Nance-Horan syndrome

Criteria Provided
Conflicting Classifications

CA246851

rs_370811549

4 SubmittersRCV000179570 RCV002321708 RCV005089896

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 SubmittersRCV000180385 RCV003621511

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
Intellectual disability

Criteria Provided
Conflicting Classifications

CA204863

rs_372969054

4 SubmittersRCV000190792 RCV000594957 RCV002514089 RCV005625420

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 SubmittersRCV000193889 RCV003621519

NM_001291867.2(NHS):c.694C>T (p.Gln232Ter)

SNV
Germline

ChrX:17687870

Likely pathogenic

Nance-Horan syndrome
NHS-related disorder

Criteria Provided
Single Submitter

CA10576136

rs_875989805

2 SubmittersRCV000211110 RCV004730908

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 SubmittersRCV000344033 RCV002519097

NM_001291867.2(NHS):c.4448C>G (p.Ser1483Cys)

SNV
Germline

ChrX:17731956

Pathogenic

X-linked syndromic intellectual disability
Nance-Horan syndrome

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 SubmittersRCV000483234 RCV002526598

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 SubmittersRCV000623307 RCV001860427

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 SubmittersRCV000638458 RCV002438693

NM_001291867.2(NHS):c.2477G>A (p.Trp826Ter)

SNV
Germline

ChrX:17726583

Pathogenic

Nance-Horan syndrome

Criteria Provided
Single Submitter

CA412358716

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

CA412327309

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

CA10358773

rs_762685365

3 SubmittersRCV003437414 RCV002315422 RCV003621566

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

CA10358852

rs_141013518

3 SubmittersRCV002315339 RCV002533020 RCV003918168

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

CA412326876

rs_1569310232

2 SubmittersRCV000760381 RCV000816102

NM_001291867.2(NHS):c.719-1G>A

SNV
Unknown

ChrX:17692334

Likely pathogenic

Nance-Horan syndrome

Criteria Provided
Single Submitter

CA412326771

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

CA412484612

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

CA412484883

rs_1484691355

1 SubmittersRCV001044162

NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu)

SNV
Germline

ChrX:17724418

Conflicting classifications of pathogenicity

Cataract 40
Inborn genetic diseases
Nance-Horan syndrome
NHS-related disorder

Criteria Provided
Conflicting Classifications

CA10358589

rs_375878222

4 SubmittersRCV001195970 RCV002561043 RCV003117838 RCV003953578

NM_001291867.2(NHS):c.822G>A (p.Arg274=)

SNV
Germline

ChrX:17692438

Conflicting classifications of pathogenicity

Nance-Horan syndrome

Criteria Provided
Conflicting Classifications

CA515466336

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

CA412349879

rs_2147140951

1 SubmittersRCV001383317

NM_001291867.2(NHS):c.322G>A (p.Glu108Lys)

SNV
Germline

ChrX:17376079

Conflicting classifications of pathogenicity

Condition: not provided
Nance-Horan syndrome
Inborn genetic diseases
NHS-related disorder

Criteria Provided
Conflicting Classifications

CA10358432

rs_773995388

4 SubmittersRCV002070289 RCV001513032 RCV002564315 RCV003940907

NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe)

SNV
Germline

ChrX:17732445

Conflicting classifications of pathogenicity

Condition: not provided
Nance-Horan syndrome
Inborn genetic diseases
Intellectual disability

Criteria Provided
Conflicting Classifications

CA10358968

rs_374462247

6 SubmittersRCV001531129 RCV002568891 RCV002334583 RCV005622116

NM_001291867.2(NHS):c.916-2A>T

SNV
Germline

ChrX:17721439

Pathogenic

Nance-Horan syndrome

Criteria Provided
Single Submitter

CA412347820

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

CA412368900

rs_2147145827

1 SubmittersRCV001975049

NM_001291867.2(NHS):c.743G>A (p.Arg248Gln)

SNV
Germline

ChrX:17692359

Conflicting classifications of pathogenicity

See cases
Nance-Horan syndrome

Criteria Provided
Conflicting Classifications

CA326964673

rs_763162787

2 SubmittersRCV002252632 RCV005095864

NM_001291867.2(NHS):c.519C>T (p.Gly173=)

SNV
Germline

ChrX:17376276

Conflicting classifications of pathogenicity

Inborn genetic diseases
Nance-Horan syndrome

Criteria Provided
Conflicting Classifications

CA515584731

rs_2064346850

2 SubmittersRCV002338566 RCV005058414

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

CA327283544

rs_954088519

2 SubmittersRCV002441337 RCV003102213

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

CA412363947

rs_1216332385

2 SubmittersRCV002647420 RCV004070695

NM_001291867.2(NHS):c.1835C>T (p.Thr612Met)

SNV
Germline

ChrX:17725941

Conflicting classifications of pathogenicity

Nance-Horan syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10358665

rs_745597127

2 SubmittersRCV002664067 RCV003162097

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

CA10358702

rs_369653594

2 SubmittersRCV002904367 RCV002904368

NM_001291867.2(NHS):c.3314G>A (p.Arg1105His)

SNV
Germline

ChrX:17727420

Conflicting classifications of pathogenicity

Nance-Horan syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10358812

rs_749270448

2 SubmittersRCV003009239 RCV004960887

NM_001291867.2(NHS):c.1928C>T (p.Ser643Leu)

SNV
Germline

ChrX:17726034

Conflicting classifications of pathogenicity

Nance-Horan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412355443

rs_2519935536

2 SubmittersRCV003034299 RCV005235678

NM_001291867.2(NHS):c.4087A>G (p.Ile1363Val)

SNV
Germline

ChrX:17728193

Conflicting classifications of pathogenicity

Inborn genetic diseases
Nance-Horan syndrome

Criteria Provided
Conflicting Classifications

CA326968100

rs_150554808

2 SubmittersRCV003290336 RCV005102583

NM_001291867.2(NHS):c.3842G>A (p.Arg1281His)

SNV
Germline

ChrX:17727948

Conflicting classifications of pathogenicity

Nance-Horan syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10358860

rs_138895219

3 SubmittersRCV003511129 RCV004696549 RCV004953317

NM_001291867.2(NHS):c.2897C>A (p.Ser966Ter)

SNV
Germline

ChrX:17727003

Pathogenic

Nance-Horan syndrome

Criteria Provided
Single Submitter

CA412360962

rs_2519938626

1 SubmittersRCV003510373

NM_001291867.2(NHS):c.1466A>G (p.Lys489Arg)

SNV
Germline

ChrX:17725572

Conflicting classifications of pathogenicity

Nance-Horan syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10358622

rs_149877928

3 SubmittersRCV003815951 RCV004953552 RCV005242442

NM_001291867.2(NHS):c.2714A>G (p.Asn905Ser)

SNV
Germline

ChrX:17726820

Conflicting classifications of pathogenicity

Nance-Horan syndrome
not specified

Criteria Provided
Conflicting Classifications

CA412360087

rs_1169366418

2 SubmittersRCV003841284 RCV005435326

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

CA10358832

rs_755219421

2 SubmittersRCV003866970 RCV003885390

NM_001291867.2(NHS):c.1108+1G>A

SNV
Germline

ChrX:17721634

Likely pathogenic

Nance-Horan syndrome
Cataract 40

Criteria Provided
Single Submitter

CA412348587

rs_2519927569

1 SubmittersRCV003985989

NM_001291867.2(NHS):c.719-1G>T

SNV
Germline

ChrX:17692334

Pathogenic

Cataract 40
Nance-Horan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004795781

NM_001291867.2(NHS):c.2472T>A (p.Cys824Ter)

SNV
Germline

ChrX:17726578

Likely pathogenic

Nance-Horan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005208238

NM_001291867.2(NHS):c.906G>A (p.Trp302Ter)

SNV
Germline

ChrX:17719397

Likely pathogenic

Nance-Horan syndrome
Cataract 40

Criteria Provided
Single Submitter

1 SubmittersRCV005412225