INVS Chromosome 9
Inversin
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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 |
|---|---|---|---|
| RS1052867 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, INVS-related disorder, Nephronophthisis |
| RS112573051 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, Nephronophthisis |
| RS114056499 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, INVS-related disorder, Nephronophthisis |
| RS114645869 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, Kidney disorder |
| RS114912725 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, INVS-related disorder |
| RS115042730 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, INVS-related disorder |
| RS115324411 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis |
| RS115598824 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, Kidney failure |
| RS115754570 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, INVS-related disorder |
| RS115937161 | Health Risk | Conflicting classifications of pathogenicity | Infantile nephronophthisis, Nephronophthisis, Infantile nephronophthisis |
| RS116314059 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, INVS-related disorder, Nephronophthisis |
| RS116606949 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, Nephronophthisis |
| RS116686341 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, INVS-related disorder |
| RS1176710652 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS1185982706 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS1272619479 | Health Risk | Conflicting classifications of pathogenicity | Infantile nephronophthisis, Nephronophthisis, Infantile nephronophthisis |
| RS1381275842 | Health Risk | Conflicting classifications of pathogenicity | Infantile nephronophthisis, Nephronophthisis, Infantile nephronophthisis |
| RS139768159 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, Malignant tumor of urinary bladder |
| RS140255233 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS1424949239 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, Nephronophthisis |
| RS146360442 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS146901872 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, Inborn genetic diseases |
| RS147041710 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS147112151 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, INVS-related disorder, Nephronophthisis |
| RS148219510 | Health Risk | Conflicting classifications of pathogenicity | Infantile nephronophthisis, Nephronophthisis, INVS-related disorder |
| RS149315279 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, INVS-related disorder, Nephronophthisis |
| RS150557072 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS1554713054 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS1564165829 | Health Risk | Conflicting classifications of pathogenicity | Infantile nephronophthisis, Nephronophthisis, Infantile nephronophthisis |
| RS181463817 | Health Risk | Conflicting classifications of pathogenicity | Infantile nephronophthisis, Infantile nephronophthisis |
| RS1832998425 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, Nephronophthisis |
| RS200546215 | Health Risk | Conflicting classifications of pathogenicity | Infantile nephronophthisis, Nephronophthisis, Inborn genetic diseases |
| RS201136636 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, Kidney disorder |
| RS368303175 | Health Risk | Conflicting classifications of pathogenicity | Infantile nephronophthisis, Nephronophthisis, INVS-related disorder |
| RS536554704 | Health Risk | Conflicting classifications of pathogenicity | Infantile nephronophthisis, Nephronophthisis, Infantile nephronophthisis |
| RS552421229 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, Nephronophthisis |
| RS558958395 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, Inborn genetic diseases |
| RS745573372 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS746200097 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis |
| RS751765105 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS760013326 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, INVS-related disorder |
| RS760637052 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, INVS-related disorder, Nephronophthisis |
| RS762112247 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Infantile nephronophthisis, Inborn genetic diseases |
| RS767884283 | Health Risk | Conflicting classifications of pathogenicity | Infantile nephronophthisis, Nephronophthisis, Infantile nephronophthisis |
| RS770047072 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis |
| RS778265507 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS779298889 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, INVS-related disorder, Nephronophthisis |
| RS781669059 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS886063264 | Health Risk | Conflicting classifications of pathogenicity | Infantile nephronophthisis, Nephronophthisis, Infantile nephronophthisis |
| RS1588153872 | Health Risk | Likely pathogenic | Infantile nephronophthisis, Infantile nephronophthisis |