NHS Chromosome X

NHS actin remodeling regulator

98 variants 98 Health Risk

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What This Gene Does

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

Gene Info

Gene Group

"MicroRNA protein coding host genes|NHS family"

Locus Type

gene with protein product

Location

Xp22.2-p22.13

Ensembl

ENSG00000188158

Associated Conditions (10)

Nance-Horan syndrome

Inborn genetic diseases

Nonpapillary renal cell carcinoma

NHS-related disorder

Intellectual disability

Cataract 40

See cases

Developmental cataract

X-linked syndromic intellectual disability

Ovarian serous cystadenocarcinoma

Key Variants

RS1021087353

Conflicting classifications of pathogenicity

Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome

Health Risk

RS1064795101

Conflicting classifications of pathogenicity

Nance-Horan syndrome, Nance-Horan syndrome

Health Risk

RS1169366418

Conflicting classifications of pathogenicity

Nance-Horan syndrome, Nance-Horan syndrome

Health Risk

RS1192248368

Conflicting classifications of pathogenicity

Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome

Health Risk

RS1192420369

Conflicting classifications of pathogenicity

Nance-Horan syndrome, Nonpapillary renal cell carcinoma, Nance-Horan syndrome

Health Risk

RS1216332385

Conflicting classifications of pathogenicity

Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome

Health Risk

RS138895219

Conflicting classifications of pathogenicity

Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome

Health Risk

RS141013518

Conflicting classifications of pathogenicity

Inborn genetic diseases, Nance-Horan syndrome, NHS-related disorder

Health Risk

RS143119491

Conflicting classifications of pathogenicity

Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome

Health Risk

RS145005596

Conflicting classifications of pathogenicity

Nance-Horan syndrome, Inborn genetic diseases, Intellectual disability

Health Risk

RS148795520

Conflicting classifications of pathogenicity

Inborn genetic diseases, Nance-Horan syndrome, Inborn genetic diseases

Health Risk

RS149877928

Conflicting classifications of pathogenicity

Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome

Health Risk

All Variants (98)

RSID	Category	Clinical Significance	Conditions
RS1021087353	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
RS1064795101	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Nance-Horan syndrome
RS1169366418	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Nance-Horan syndrome
RS1192248368	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
RS1192420369	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Nonpapillary renal cell carcinoma, Nance-Horan syndrome
RS1216332385	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
RS138895219	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
RS141013518	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nance-Horan syndrome, NHS-related disorder
RS143119491	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
RS145005596	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Intellectual disability
RS148795520	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nance-Horan syndrome, Inborn genetic diseases
RS149877928	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
RS150554808	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nance-Horan syndrome, Inborn genetic diseases
RS150689121	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Nance-Horan syndrome
RS200598087	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
RS200952266	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nance-Horan syndrome, Inborn genetic diseases
RS2064346850	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nance-Horan syndrome, Inborn genetic diseases
RS2519935536	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Nance-Horan syndrome
RS367856134	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
RS369653594	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
RS370811549	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nance-Horan syndrome, Inborn genetic diseases
RS371229391	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nance-Horan syndrome, Inborn genetic diseases
RS372969054	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nance-Horan syndrome, Intellectual disability
RS373464879	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
RS374462247	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nance-Horan syndrome, Intellectual disability
RS375878222	Health Risk	Conflicting classifications of pathogenicity	Cataract 40, Nance-Horan syndrome, Inborn genetic diseases
RS398124607	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Cataract 40
RS398124609	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Nance-Horan syndrome
RS398124610	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nance-Horan syndrome, Inborn genetic diseases
RS587780403	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Nance-Horan syndrome
RS727504039	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Cataract 40, Inborn genetic diseases
RS727504042	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Nance-Horan syndrome
RS745597127	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nance-Horan syndrome, Inborn genetic diseases
RS749270448	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
RS752248694	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
RS755219421	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Nance-Horan syndrome
RS761212213	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Nance-Horan syndrome
RS761463158	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Nance-Horan syndrome
RS762685365	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nance-Horan syndrome, Inborn genetic diseases
RS763162787	Health Risk	Conflicting classifications of pathogenicity	See cases, Nance-Horan syndrome, See cases
RS763390377	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS773995388	Health Risk	Conflicting classifications of pathogenicity	Nance-Horan syndrome, Inborn genetic diseases, NHS-related disorder
RS954088519	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nance-Horan syndrome, Inborn genetic diseases
RS1601838818	Health Risk	Likely pathogenic	Nance-Horan syndrome, Nance-Horan syndrome
RS2519619779	Health Risk	Likely pathogenic	NHS-related disorder, NHS-related disorder
RS2519927569	Health Risk	Likely pathogenic	Nance-Horan syndrome, Cataract 40, Nance-Horan syndrome
RS2519941885	Health Risk	Likely pathogenic	Nance-Horan syndrome, Nance-Horan syndrome
RS875989805	Health Risk	Likely pathogenic	Nance-Horan syndrome, NHS-related disorder, Nance-Horan syndrome
RS104894881	Health Risk	Pathogenic	Nance-Horan syndrome, Nance-Horan syndrome
RS111534978	Health Risk	Pathogenic	Developmental cataract, Developmental cataract

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