| | | Deletion (frameshift variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PRDM16-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +7 more | GPathogenic/Likely pathogenic |
| | EMC1, EMC1-AS1 (P874fs +2 more) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (H184Y +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy +4 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly 7, primary, autosomal recessive +3 more | |
| | | Deletion (intron variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +12 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | Congenital anomaly of kidney and urinary tract +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1A +15 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Parkinson disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Parkinson disease +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Microsatellite (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Congenital anomalies of kidney and urinary tract 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DSTYK-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +7 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital anomaly of kidney and urinary tract +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | NEB, RIF1 (R6474* +2 more) | Single nucleotide variant (nonsense) | Arthrogryposis multiplex congenita 6 +3 more | |
| | TTN, TTN-AS1 (R20786* +5 more) | Single nucleotide variant (nonsense) | Dilated cardiomyopathy 1G +2 more | |
| | LOC126806490, UNC80 (P1700S +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SPEG-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Lethal multiple pterygium syndrome +2 more | |
| | | Deletion (frameshift variant) | CHRNG-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 30 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Congenital disorder of deglycosylation 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiac arrhythmia +10 more | |
| | | Single nucleotide variant (missense variant) | Brugada syndrome 1 +7 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital nystagmus +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 57 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Premature ovarian failure +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ACTL6A-related BAFopathy +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Infantile epilepsy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Fibromatosis, gingival, 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (non-coding transcript variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +2 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Bifunctional peroxisomal enzyme deficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +5 more | |
| | FARS2, LOC126859565 (Y144C) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Complex cortical dysplasia with other brain malformations 6 +3 more | GConflicting classifications of pathogenicity |
| | LOC106780803, TNXB (R4169H +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Pontoneocerebellar hypoplasia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Mitochondrial DNA depletion syndrome 13 +1 more | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1JJ +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ROS1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | MCM9-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to partial LAMA2 deficiency +5 more | |
| | | Single nucleotide variant (missense variant) | LAMA2-related muscular dystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive ataxia, Beauce type +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Arthrogryposis multiplex congenita 3, myogenic type +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive ataxia, Beauce type +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |