| | | Single nucleotide variant (missense variant) | Hereditary cryohydrocytosis with reduced stomatin +13 more | |
| | | Single nucleotide variant (nonsense) | Abnormal blistering of the skin +3 more | |
| | | Single nucleotide variant (missense variant) | Hemiplegia +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Woolly hair-skin fragility syndrome +12 more | GConflicting classifications of pathogenicity |
| | LOC126859827, TAB2 (R347* +1 more) | Single nucleotide variant (nonsense) | Rectal prolapse +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Migraine | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Migraine +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +24 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MAP2K2-related disorder +10 more | |
| | CACNA1A, LOC126862864 (V1393M +2 more) | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Migraine +3 more | |