| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Autism | |
| | LINC01780, LINC02868 +563 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | KCNA3-associated developmental and epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | KCNA3-associated developmental and epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | KCNA3-associated disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | KCNA3-associated developmental and epileptic encephalopathy | |
| | | Indel (missense variant +1 more) | KCNA3-associated developmental and epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | KCNA3-associated developmental and epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | KCNA3-associated developmental and epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | KCNA3-associated developmental and epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | KCNA3-associated developmental and epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | KCNA3-associated developmental and epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | KCNA3-related disorder | |
| | | Single nucleotide variant (missense variant) | KCNA3-associated developmental and epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | KCNA3-associated developmental and epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KCNA3, LOC129931151 (G31R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KCNA3, LOC129931151 (P23S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KCNA3, LOC129931151 (A20S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KCNA3, LOC129931151 (R17S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KCNA3, LOC129931151 (P13S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | KCNA3-associated developmental and epileptic encephalopathy | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Hereditary spastic paraplegia 63 +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | Seizure +1 more | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | KCNA3-associated disorder | |