| | | Microsatellite (frameshift variant) | Congenital myasthenic syndrome 8 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nonsyndromic hearing loss 2A +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (nonsense +1 more) | Rare genetic deafness | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | GBA1, LOC106627981 (E427* +2 more) | Single nucleotide variant (nonsense) | Gaucher disease | |
| | | Single nucleotide variant (splice donor variant +1 more) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (nonsense) | Primary dilated cardiomyopathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Hypertrophic cardiomyopathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1D +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +4 more | |
| | | Single nucleotide variant (nonsense) | Usher syndrome type 2A +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 39 +4 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | USH2A, USH2A-AS1 (V1147fs) | Deletion (frameshift variant) | Rare genetic deafness +1 more | |
| | LOC122152296, USH2A (R926H) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | LOC122152296, USH2A (C870*) | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 +5 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 39 +3 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 2A +4 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +3 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Primary dilated cardiomyopathy +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1AA +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +7 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +6 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia +2 more | |
| | | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cryopyrin associated periodic syndrome +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial cold autoinflammatory syndrome 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Xanthinuria type II +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Noonan syndrome 4 +7 more | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome 4 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fibromatosis, gingival, 1 +5 more | |
| | | Single nucleotide variant (missense variant) | RASopathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy +5 more | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | Endometrial carcinoma +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Monogenic diabetes +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Surfactant metabolism dysfunction, pulmonary, 1 +1 more | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | TTN, TTN-AS1 (R31373T +5 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | TTN, TTN-AS1 (V30153I +5 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | TTN, TTN-AS1 (E30144* +5 more) | Single nucleotide variant (nonsense) | Primary dilated cardiomyopathy +3 more | |
| | TTN, TTN-AS1 (P29832T +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +7 more | GConflicting classifications of pathogenicity |
| | TTN-AS1, TTN (G30541R +5 more) | Single nucleotide variant (missense variant) | Early-onset myopathy with fatal cardiomyopathy +7 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (T27508M +5 more) | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (I28582K +5 more) | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (L24621V +5 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (S24101N +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | TTN, TTN-AS1 (S25728G +5 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | TTN, TTN-AS1 (V21946F +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | TTN, TTN-AS1 (G23173R +5 more) | Single nucleotide variant (missense variant) | not specified +4 more | |
| | LOC126806423, TTN +1 more (S22761F +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806424, TTN +1 more (D20002G +5 more) | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (V16366D +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1G +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Arrhythmogenic right ventricular cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | LOC126806431, TTN (I4388T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |