| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Glaucoma of childhood | |
| | | Single nucleotide variant (missense variant) | not provided +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Protein-losing enteropathy +9 more | |
| | | Deletion (frameshift variant +1 more) | Obesity +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Motor neuron disease +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency | |
| | LOC126861898, MYH7 (A797T) | Single nucleotide variant (missense variant) | Myosin storage myopathy +19 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Non-immune hydrops fetalis +6 more | |
| | | Single nucleotide variant (missense variant) | Abnormal cellular immune system morphology +10 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene