| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SLC6A17, SLC6A17-AS1 (R10H) | Single nucleotide variant (missense variant) | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | |
| | | Single nucleotide variant (intron variant) | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | |
| | | Single nucleotide variant (missense variant) | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | |
| | | Single nucleotide variant (missense variant) | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | |
Click to view in NCBI Gene