| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126806226, TMEM17 (R180Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126806226, TMEM17 (R180W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126806226, TMEM17 (R172S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126806226, TMEM17 (D177G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126806226, TMEM17 (R172C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126806226, TMEM17 (L124I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126806226, TMEM17 (W114R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene