OBSL1 Chromosome 2

Obscurin like cytoskeletal adaptor 1

134 variants 134 Health Risk

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What This Gene Does

Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]

Gene Info

Gene Group

"I-set domain containing|MicroRNA protein coding host genes|3M complex subunits"

Locus Type

gene with protein product

Location

2q35

Ensembl

ENSG00000124006

Associated Conditions (6)

Inborn genetic diseases

3M syndrome 2

OBSL1-related disorder

Monogenic short stature

Short stature

3M syndrome 1

Key Variants

RS112487236

Conflicting classifications of pathogenicity

Inborn genetic diseases, 3M syndrome 2, Inborn genetic diseases

Health Risk

RS116131367

Conflicting classifications of pathogenicity

3M syndrome 2, OBSL1-related disorder, 3M syndrome 2

Health Risk

RS1193236223

Conflicting classifications of pathogenicity

Health Risk

RS140112967

Conflicting classifications of pathogenicity

3M syndrome 2, 3M syndrome 2

Health Risk

RS140825693

Conflicting classifications of pathogenicity

Health Risk

RS1434485676

Conflicting classifications of pathogenicity

Health Risk

RS143493175

Conflicting classifications of pathogenicity

Health Risk

RS144083909

Conflicting classifications of pathogenicity

Health Risk

RS1449351602

Conflicting classifications of pathogenicity

Health Risk

RS145850612

Conflicting classifications of pathogenicity

3M syndrome 2, 3M syndrome 2

Health Risk

RS146306059

Conflicting classifications of pathogenicity

Health Risk

RS148433261

Conflicting classifications of pathogenicity

3M syndrome 2, 3M syndrome 2

Health Risk

All Variants (134)

RSID	Category	Clinical Significance	Conditions
RS112487236	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, 3M syndrome 2, Inborn genetic diseases
RS116131367	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, OBSL1-related disorder, 3M syndrome 2
RS1193236223	Health Risk	Conflicting classifications of pathogenicity	—
RS140112967	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS140825693	Health Risk	Conflicting classifications of pathogenicity	—
RS1434485676	Health Risk	Conflicting classifications of pathogenicity	—
RS143493175	Health Risk	Conflicting classifications of pathogenicity	OBSL1-related disorder, OBSL1-related disorder
RS144083909	Health Risk	Conflicting classifications of pathogenicity	—
RS1449351602	Health Risk	Conflicting classifications of pathogenicity	—
RS145850612	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS146306059	Health Risk	Conflicting classifications of pathogenicity	—
RS148433261	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS149009269	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS150250100	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, OBSL1-related disorder, Inborn genetic diseases
RS1695978385	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS183413469	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, Inborn genetic diseases, 3M syndrome 2
RS186348476	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, Inborn genetic diseases, OBSL1-related disorder
RS190405420	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS199584687	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, Inborn genetic diseases, 3M syndrome 2
RS199594182	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS199678301	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS199799438	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS199929590	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS199936876	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS199991707	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, OBSL1-related disorder, 3M syndrome 2
RS200341414	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS200543358	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS200723165	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS200920323	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS201032988	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, Inborn genetic diseases, OBSL1-related disorder
RS201113762	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS201462216	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, Inborn genetic diseases, 3M syndrome 2
RS201821906	Health Risk	Conflicting classifications of pathogenicity	—
RS201893489	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, OBSL1-related disorder, 3M syndrome 2
RS201913713	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS202040862	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, 3M syndrome 2, Inborn genetic diseases
RS202141932	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS2546233249	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS367810594	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS367952566	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS368349283	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS368538357	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS368952984	Health Risk	Conflicting classifications of pathogenicity	OBSL1-related disorder, OBSL1-related disorder
RS369705959	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, Inborn genetic diseases, 3M syndrome 2
RS369829562	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS370898052	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS370898199	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS371141615	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS371714401	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS373427330	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases

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