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
RS373882420	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS374001837	Health Risk	Conflicting classifications of pathogenicity	—
RS374656370	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, OBSL1-related disorder, 3M syndrome 2
RS375870998	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS376475182	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS376967214	Health Risk	Conflicting classifications of pathogenicity	—
RS377378051	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS377614503	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS530576939	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, Inborn genetic diseases, 3M syndrome 2
RS533142740	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, OBSL1-related disorder, 3M syndrome 2
RS556207267	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, Inborn genetic diseases, 3M syndrome 2
RS558191826	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS558700334	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS560822587	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, Inborn genetic diseases, 3M syndrome 2
RS563580301	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, OBSL1-related disorder, 3M syndrome 2
RS564010604	Health Risk	Conflicting classifications of pathogenicity	—
RS564855597	Health Risk	Conflicting classifications of pathogenicity	—
RS568750433	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, Monogenic short stature, 3M syndrome 2
RS62191613	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS74589174	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, OBSL1-related disorder, Inborn genetic diseases
RS746864661	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS747837754	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS747860748	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS750782462	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS751927713	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS752057894	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS755217589	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, Inborn genetic diseases, 3M syndrome 2
RS760053992	Health Risk	Conflicting classifications of pathogenicity	—
RS762452921	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS766559629	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS769179933	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS769360822	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS771196625	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS771686909	Health Risk	Conflicting classifications of pathogenicity	—
RS77287119	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS772929618	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS775172922	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS780179113	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS79295927	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, 3M syndrome 2
RS886055667	Health Risk	Conflicting classifications of pathogenicity	3M syndrome 2, Inborn genetic diseases, 3M syndrome 2
RS1025372068	Health Risk	Likely pathogenic	—
RS1396471922	Health Risk	Likely pathogenic	3M syndrome 2, 3M syndrome 2
RS1553538488	Health Risk	Likely pathogenic	3M syndrome 2, Short stature, 3M syndrome 2
RS1696644780	Health Risk	Likely pathogenic	3M syndrome 2, 3M syndrome 2
RS1696928123	Health Risk	Likely pathogenic	—
RS1697309952	Health Risk	Likely pathogenic	—
RS2106028466	Health Risk	Likely pathogenic	3M syndrome 2, 3M syndrome 2
RS2469091008	Health Risk	Likely pathogenic	3M syndrome 2, 3M syndrome 2
RS2469101147	Health Risk	Likely pathogenic	OBSL1-related disorder, OBSL1-related disorder
RS2469105576	Health Risk	Likely pathogenic	OBSL1-related disorder, OBSL1-related disorder

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