| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | |
| | LOC126861887, SUPT16H (R1029C) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | |
| | LOC126861887, SUPT16H (K1045R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126861887, SUPT16H (R1033H) | Single nucleotide variant (missense variant) | SUPT16H-related disorder | |
| | LOC126861887, SUPT16H (E1011del) | Microsatellite (inframe deletion) | SUPT16H-related disorder | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | |
| | LOC126861887, SUPT16H (S1031F) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | |
| | LOC126861887, SUPT16H (R1005H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | |
| | LOC126861887, SUPT16H (R1029H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126861887, SUPT16H (P1042L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | See cases | |
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