| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130008908, PRKAB1 (D39E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130008908, PRKAB1 (L46F) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ZNF664, ZNF664-RFLNA +786 more | Copy number gain | See cases | |
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