Department of Neurology and Geriatrics (Kagoshima University Graduate School of Medical and Dental Sciences)
General information
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 74
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Andersen Tawil syndrome | 6 | Nov 8, 2022 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Jul 22, 2022 |
| Congenital myotonia, autosomal dominant form | 14 | Jul 19, 2022 |
| Congenital myotonia, autosomal recessive form | 7 | Jul 19, 2022 |
| Hereditary insensitivity to pain with anhidrosis | 4 | Jul 22, 2022 |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 2 | Jul 22, 2022 |
| Hyperkalemic periodic paralysis | 12 | Nov 8, 2022 |
| Hypokalemic periodic paralysis, type 1 | 10 | Nov 8, 2022 |
| Paroxysmal extreme pain disorder | 1 | Jul 22, 2022 |
| SCN4A-related non-dystrophic myotonia | 17 | Jul 19, 2022 |