| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Deletion (5 prime UTR variant +2 more) | TRIP4-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (5 prime UTR variant +2 more) | Spinal muscular atrophy with congenital bone fractures 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene