Genomics And Bioinformatics Analysis Resource
(Columbia University)
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 90
Gene
| Gene | Submissions | Last Updated |
|---|
| ABCB11 | 5 | Aug 9, 2023 |
| ABCB4 | 2 | Aug 9, 2023 |
| ACVRL1 | 1 | Aug 9, 2023 |
| AGXT | 1 | Aug 9, 2023 |
| APC | 2 | Aug 9, 2023 |
| ATP7B | 5 | Aug 9, 2023 |
| ATP8B1 | 1 | Aug 9, 2023 |
| CFTR | 4 | Aug 9, 2023 |
| CFTR-AS1 | 1 | Aug 9, 2023 |
| ENG | 1 | Aug 9, 2023 |
| GANAB | 3 | Aug 9, 2023 |
| GNB1 | 9 | Mar 13, 2016 |
| HBB | 2 | Aug 9, 2023 |
| HFE | 3 | Aug 9, 2023 |
| HFE-AS1 | 1 | Aug 9, 2023 |
| HMBS | 1 | Aug 9, 2023 |
| HNF1A | 5 | Aug 9, 2023 |
| HNF1B | 1 | Aug 9, 2023 |
| HNF4A | 2 | Aug 9, 2023 |
| HPS1 | 1 | Aug 9, 2023 |
| JAG1 | 5 | Aug 9, 2023 |
| KIF1A | 2 | Jul 10, 2017 |
| LOC106099062 | 2 | Aug 9, 2023 |
| LOC107133510 | 2 | Aug 9, 2023 |
| LOC126861110 | 1 | Aug 9, 2023 |
| LOC126862264 | 1 | Aug 9, 2023 |
| LOC126862549 | 1 | Aug 9, 2023 |
| LOC129930668 | 1 | Aug 9, 2023 |
| MEFV | 2 | Aug 9, 2023 |
| MYBPC1 | 1 | Mar 26, 2019 |
| NOTCH1 | 1 | Aug 9, 2023 |
| PGM1 | 2 | Aug 9, 2023 |
| PHKA2 | 2 | Aug 9, 2023 |
| PKD1 | 5 | Aug 9, 2023 |
| PKD1-AS1 | 1 | Aug 9, 2023 |
| PKHD1 | 4 | Aug 9, 2023 |
| PRKCSH | 3 | Aug 9, 2023 |
| SEC63 | 4 | Aug 9, 2023 |
| SERPINA1 | 1 | Aug 9, 2023 |
| SETBP1 | 1 | Feb 27, 2020 |
| TALDO1 | 1 | Aug 9, 2023 |
| TNFRSF1A | 1 | Aug 9, 2023 |
| TSC1 | 1 | Aug 9, 2023 |
| TTC21B | 2 | Aug 9, 2023 |
| TTC21B-AS1 | 1 | Aug 9, 2023 |
| UROD | 1 | Aug 9, 2023 |
| WDR19 | 2 | Aug 9, 2023 |
Condition
| Name | Submissions | Last Updated | | Acute intermittent porphyria | 1 | Aug 9, 2023 |
| Alagille syndrome due to a JAG1 point mutation | 5 | Aug 9, 2023 |
| Alpha-1-antitrypsin deficiency | 1 | Aug 9, 2023 |
| Aortic valve disease 1 | 1 | Aug 9, 2023 |
| Beta-thalassemia HBB/LCRB | 1 | Aug 9, 2023 |
| Bilateral tonic-clonic seizure | 2 | Mar 13, 2016 |
| Cerebral visual impairment | 2 | Mar 13, 2016 |
| Cystic fibrosis | 4 | Aug 9, 2023 |
| Deficiency of transaldolase | 1 | Aug 9, 2023 |
| Developmental regression | 2 | Mar 13, 2016 |
| EEG with generalized epileptiform discharges | 3 | Mar 13, 2016 |
| Expressive language delay | 3 | Mar 13, 2016 |
| Failure to thrive | 4 | Mar 13, 2016 |
| Familial Mediterranean fever | 2 | Aug 9, 2023 |
| Familial adenomatous polyposis 1 | 2 | Aug 9, 2023 |
| Familial porphyria cutanea tarda | 1 | Aug 9, 2023 |
| Feeding difficulties | 3 | Mar 13, 2016 |
| Focal impaired awareness seizure | 3 | Mar 13, 2016 |
| Global developmental delay | 9 | Mar 13, 2016 |
| Glycogen storage disease IXa1 | 2 | Aug 9, 2023 |
| Growth delay | 4 | Mar 13, 2016 |
| Hb SS disease | 1 | Aug 9, 2023 |
| Hemochromatosis type 1 | 3 | Aug 9, 2023 |
| Hermansky-Pudlak syndrome 1 | 1 | Aug 9, 2023 |
| Hypotonia | 8 | Mar 13, 2016 |
| Inability to walk | 2 | Mar 13, 2016 |
| Infantile muscular hypotonia | 3 | Mar 13, 2016 |
| Intellectual disability | 4 | Mar 13, 2016 |
| Intellectual disability, autosomal dominant 9 | 2 | Jul 10, 2017 |
| Limb hypertonia | 4 | Mar 13, 2016 |
| MYBPC1-related disorder | 1 | Mar 26, 2019 |
| Maturity-onset diabetes of the young type 1 | 2 | Aug 9, 2023 |
| Maturity-onset diabetes of the young type 3 | 5 | Aug 9, 2023 |
| Multifocal epileptiform discharges | 4 | Mar 13, 2016 |
| Nephronophthisis 12 | 2 | Aug 9, 2023 |
| Nystagmus | 2 | Mar 13, 2016 |
| PGM1-congenital disorder of glycosylation | 2 | Aug 9, 2023 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 3 | Aug 9, 2023 |
| Polycystic kidney disease 4 | 4 | Aug 9, 2023 |
| Polycystic kidney disease, adult type | 5 | Aug 9, 2023 |
| Polycystic liver disease 1 | 3 | Aug 9, 2023 |
| Polycystic liver disease 2 | 4 | Aug 9, 2023 |
| Primary hyperoxaluria, type I | 1 | Aug 9, 2023 |
| Progressive familial intrahepatic cholestasis type 1 | 1 | Aug 9, 2023 |
| Progressive familial intrahepatic cholestasis type 2 | 5 | Aug 9, 2023 |
| Progressive familial intrahepatic cholestasis type 3 | 2 | Aug 9, 2023 |
| Renal cysts and diabetes syndrome | 1 | Aug 9, 2023 |
| Schinzel-Giedion syndrome | 1 | Feb 27, 2020 |
| Seizure | 7 | Mar 13, 2016 |
| Senior-Loken syndrome 8 | 2 | Aug 9, 2023 |
| Strabismus | 4 | Mar 13, 2016 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 | Aug 9, 2023 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 | Aug 9, 2023 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Aug 9, 2023 |
| Tuberous sclerosis 1 | 1 | Aug 9, 2023 |
| Wilson disease | 5 | Aug 9, 2023 |
