| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | CLCNKB, LOC106501713 (Y297fs +1 more) | Deletion (frameshift variant) | Bartter disease type 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy due to GLUT1 deficiency +6 more | |
| | | Duplication (frameshift variant) | Disorders of Intracellular Cobalamin Metabolism +6 more | |
| | | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa 76 +3 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +7 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | |
| | | Microsatellite (inframe_deletion +1 more) | Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Medium-chain acyl-coenzyme A dehydrogenase deficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Venous malformation +2 more | |
| | | Microsatellite (frameshift variant) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense +1 more) | Retinal dystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +12 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | ABCA4, LOC126805794 (E1271G +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease type III +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GConflicting classifications of pathogenicity |
| | LIX1L-AS1, LOC126805851
+1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (D448H +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +12 more | GPathogenic/Likely pathogenic; risk factor |
| | GBA1, LOC106627981 (H294Q +2 more) | Single nucleotide variant (missense variant) | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +7 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | RASopathy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to LMNA mutation +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to LMNA mutation +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2I +3 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma of childhood | |
| | AXDND1, NPHS2 (R291W +1 more) | Single nucleotide variant (missense variant +1 more) | Nephrotic syndrome, type 2 +3 more | GPathogenic/Likely pathogenic |
| | AXDND1, NPHS2 (V290M +1 more) | Single nucleotide variant (missense variant +1 more) | NPHS2-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Finnish congenital nephrotic syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | NPHS2-related disorder +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) | Malignant hyperthermia, susceptibility to, 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary familial hypertrophic cardiomyopathy +9 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Junctional epidermolysis bullosa gravis of Herlitz +3 more | |
| | | Duplication (frameshift variant) | Junctional epidermolysis bullosa gravis of Herlitz +3 more | |
| | | Single nucleotide variant (nonsense) | Usher syndrome type 2A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 +10 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (missense variant) | Usher syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +6 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GBenign/Likely benign; other; risk factor |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | NEB, RIF1 (E8100fs +1 more) | Duplication (frameshift variant +1 more) | Nemaline myopathy 2 +4 more | GPathogenic/Likely pathogenic |
| | RIF1, NEB (R8032* +1 more) | Single nucleotide variant (nonsense +1 more) | Nemaline myopathy 2 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Nemaline myopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Singleton-Merten syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 11 +3 more | GPathogenic/Likely pathogenic |
| | LOC102724058, SCN1A (R1634* +5 more) | Single nucleotide variant (nonsense +1 more) | Severe myoclonic epilepsy in infancy +4 more | |
| | LOC102724058, SCN1A (R1318* +5 more) | Single nucleotide variant (nonsense +1 more) | Developmental and epileptic encephalopathy, 6 +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |
| | | Single nucleotide variant (nonsense +2 more) | Severe myoclonic epilepsy in infancy +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | Migraine, familial hemiplegic, 3 +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Benign recurrent intrahepatic cholestasis type 2 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Retinal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (R14454* +5 more) | Single nucleotide variant (nonsense) | Dilated cardiomyopathy 1G +4 more | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | GRACILE syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Alport syndrome +9 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Alport syndrome 3b, autosomal recessive +6 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |