TSPAN12 Chromosome 7

Tetraspanin 12
43 variants 43 Health Risk

Upload your DNA to see your personal genotypes for variants in TSPAN12.

What This Gene Does
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Tetraspanins
Locus Type
gene with protein product
Location
7q31.31
Ensembl
ENSG00000106025
Associated Conditions (10)
Retinal disorder
Exudative vitreoretinopathy 5
Retinal dystrophy
Inborn genetic diseases
TSPAN12-related disorder
Vitreoretinopathy
Atrophia bulborum hereditaria
Persistent hyperplastic primary vitreous
autosomal recessive
Familial exudative vitreoretinopathy
Key Variants
RS1283326178
Conflicting classifications of pathogenicity
Retinal disorder, Retinal disorder
Health Risk
RS137971071
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
Health Risk
RS143445702
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS145449060
Conflicting classifications of pathogenicity
Inborn genetic diseases, TSPAN12-related disorder, Inborn genetic diseases
Health Risk
RS2485339769
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
Health Risk
RS367887017
Conflicting classifications of pathogenicity
Health Risk
RS538591733
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
Health Risk
RS545477642
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
Health Risk
RS746696379
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
Health Risk
RS759104377
Conflicting classifications of pathogenicity
Health Risk
RS774728139
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
Health Risk
RS1793956510
Likely pathogenic
Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
Health Risk
All Variants (43)
RSID Category Clinical Significance Conditions
RS1283326178 Health Risk Conflicting classifications of pathogenicity Retinal disorder, Retinal disorder
RS137971071 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS143445702 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS145449060 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TSPAN12-related disorder, Inborn genetic diseases
RS2485339769 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS367887017 Health Risk Conflicting classifications of pathogenicity —
RS538591733 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS545477642 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS746696379 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS759104377 Health Risk Conflicting classifications of pathogenicity —
RS774728139 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1793956510 Health Risk Likely pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS2116347776 Health Risk Likely pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS2485460699 Health Risk Likely pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS267607152 Health Risk Likely pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1057518477 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1278815943 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1407226293 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1437503069 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1554403626 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1554403767 Health Risk Pathogenic Vitreoretinopathy, Vitreoretinopathy
RS1794878769 Health Risk Pathogenic —
RS2116347903 Health Risk Pathogenic —
RS2116348265 Health Risk Pathogenic —
RS2116348290 Health Risk Pathogenic —
RS2116363345 Health Risk Pathogenic —
RS2116363773 Health Risk Pathogenic —
RS2485339909 Health Risk Pathogenic —
RS2485348829 Health Risk Pathogenic —
RS2485348892 Health Risk Pathogenic —
RS2485363065 Health Risk Pathogenic —
RS2485420226 Health Risk Pathogenic —
RS2485423018 Health Risk Pathogenic —
RS267607153 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS267607154 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS587777284 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS587777285 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS755620037 Health Risk Pathogenic —
RS794726655 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS878853243 Health Risk Pathogenic Atrophia bulborum hereditaria, Exudative vitreoretinopathy 5, Persistent hyperplastic primary vitreous
RS1335735639 Health Risk Pathogenic/Likely pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1793956441 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS587777283 Health Risk Pathogenic/Likely pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
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