| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | AMPD1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Achromatopsia 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Pulmonary arterial hypertension associated with another disease +2 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired speech and hyperkinetic movements | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Neuropathy, hereditary motor and sensory, type 6B +1 more | |
| | MYOT, PKD2L2-DT (R443C +2 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 3 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 53 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 11 +1 more | |
| | LOC129999350, TSGA13 (R259C) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | KYAT1, KYAT1-SPOUT1 (R259C +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital long QT syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +4 more) | not specified | |
| | | Single nucleotide variant (missense variant) | KSR2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 6 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ALDOA, LOC112694756 (R259C +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | HNSHA due to aldolase A deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Dystonia 12 +1 more | |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +1 more | |
| | DNAAF3-AS1, DNAAF3 (R259C +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | RTEL1, RTEL1-TNFRSF6B (R259C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |