INVS Chromosome 9

Inversin
141 variants 141 Health Risk

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What This Gene Does
This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Inversin complex subunits"
Locus Type
gene with protein product
Location
9q31.1
Ensembl
ENSG00000119509
Associated Conditions (7)
Nephronophthisis
INVS-related disorder
Infantile nephronophthisis
Kidney disorder
Inborn genetic diseases
Kidney failure
Malignant tumor of urinary bladder
Key Variants
RS1052867
Conflicting classifications of pathogenicity
Nephronophthisis, INVS-related disorder, Nephronophthisis
Health Risk
RS112573051
Conflicting classifications of pathogenicity
Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
Health Risk
RS114056499
Conflicting classifications of pathogenicity
Nephronophthisis, INVS-related disorder, Nephronophthisis
Health Risk
RS114645869
Conflicting classifications of pathogenicity
Nephronophthisis, Infantile nephronophthisis, Kidney disorder
Health Risk
RS114912725
Conflicting classifications of pathogenicity
Nephronophthisis, Infantile nephronophthisis, INVS-related disorder
Health Risk
RS115042730
Conflicting classifications of pathogenicity
Nephronophthisis, Infantile nephronophthisis, INVS-related disorder
Health Risk
RS115324411
Conflicting classifications of pathogenicity
Nephronophthisis, Inborn genetic diseases, Nephronophthisis
Health Risk
RS115598824
Conflicting classifications of pathogenicity
Nephronophthisis, Infantile nephronophthisis, Kidney failure
Health Risk
RS115754570
Conflicting classifications of pathogenicity
Nephronophthisis, Inborn genetic diseases, INVS-related disorder
Health Risk
RS115937161
Conflicting classifications of pathogenicity
Infantile nephronophthisis, Nephronophthisis, Infantile nephronophthisis
Health Risk
RS116314059
Conflicting classifications of pathogenicity
Nephronophthisis, INVS-related disorder, Nephronophthisis
Health Risk
RS116606949
Conflicting classifications of pathogenicity
Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
Health Risk
All Variants (141)
RSID Category Clinical Significance Conditions
RS1833643967 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2118799345 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2490137922 Health Risk Likely pathogenic Infantile nephronophthisis, Infantile nephronophthisis
RS2490877060 Health Risk Likely pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS2491192231 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2491201847 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2491236702 Health Risk Likely pathogenic Infantile nephronophthisis, Infantile nephronophthisis
RS2491245262 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2491256806 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS368746630 Health Risk Likely pathogenic INVS-related disorder, Infantile nephronophthisis, INVS-related disorder
RS375753623 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis, Nephronophthisis
RS375757276 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS750287289 Health Risk Likely pathogenic Infantile nephronophthisis, Infantile nephronophthisis
RS777556837 Health Risk Likely pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS955421639 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS985435686 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1007394906 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1179816505 Health Risk Pathogenic Nephronophthisis, Inborn genetic diseases, INVS-related disorder
RS1205325321 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1292147160 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1303311376 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1409741643 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1425211517 Health Risk Pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS1442064385 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS149055711 Health Risk Pathogenic Infantile nephronophthisis, Nephronophthisis, Infantile nephronophthisis
RS150001738 Health Risk Pathogenic Nephronophthisis, Infantile nephronophthisis, INVS-related disorder
RS1564123602 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1564171882 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1564193130 Health Risk Pathogenic —
RS1588145141 Health Risk Pathogenic Nephronophthisis, Nephronophthisis, Nephronophthisis
RS1831817207 Health Risk Pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS1833004339 Health Risk Pathogenic Nephronophthisis, Infantile nephronophthisis, Nephronophthisis
RS1833814168 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2118494165 Health Risk Pathogenic Infantile nephronophthisis, Infantile nephronophthisis
RS2118762244 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2118781593 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490003475 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490003602 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490005816 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490036502 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490036732 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490055816 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490055960 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490087284 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490087462 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490088747 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490114604 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490115774 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490115909 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490118043 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
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