| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Hypotonia +3 more | |
| | | Single nucleotide variant (splice donor variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +2 more | |
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy | |
| | FKBP14, FKBP14-AS1 (E122fs) | Duplication (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +8 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +5 more | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 14 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 13 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | X-linked progressive cerebellar ataxia | |
Click to view in NCBI Gene