| | | Microsatellite (frameshift variant) | Cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | Greig cephalopolysyndactyly syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome | |
| | | Single nucleotide variant (nonsense) | Ciliary dyskinesia, primary, 40 | |
| | | Duplication (inframe_insertion) | X-linked Opitz G/BBB syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 | |
| | | Deletion | Pyridoxine-dependent epilepsy | |
| | | Deletion (splice acceptor variant +1 more) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Biotinidase deficiency | |
| | | Deletion | Pyridoxal phosphate-responsive seizures | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 9 | |
| | | Single nucleotide variant (splice donor variant) | Pyridoxal phosphate-responsive seizures | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 70 | |
| | | Deletion (frameshift variant) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 99 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 99 | |
| | | Deletion (frameshift variant) | Intellectual disability, X-linked, with or without seizures, arx-related | |
| | | Duplication (frameshift variant) | Intellectual disability, X-linked, with or without seizures, arx-related | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy, hereditary diffuse, with spheroids 2 | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Single nucleotide variant (nonsense) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia, type 9 | |
| | | Indel (missense variant) | Episodic ataxia, type 9 | |
| | | Single nucleotide variant (missense variant +2 more) | Migraine, familial hemiplegic, 3 | |
| | LOC102724058, SCN1A (R1613G +5 more) | Single nucleotide variant (missense variant +1 more) | Migraine, familial hemiplegic, 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Migraine, familial hemiplegic, 3 | |
| | | Single nucleotide variant (splice donor variant) | Migraine, familial hemiplegic, 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Migraine, familial hemiplegic, 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Migraine, familial hemiplegic, 3 | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 5B | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 7 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Merosin deficient congenital muscular dystrophy | |
| | | Deletion (frameshift variant) | Merosin deficient congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV | |
| | | Deletion (frameshift variant) | Duchenne muscular dystrophy | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2J | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2J | |
| | LOC101927055, TTN (T1263I +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J | |
| | | Single nucleotide variant (intron variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Central core myopathy | |
| | | Duplication (frameshift variant) | Severe X-linked myotubular myopathy | |
| | | Microsatellite (frameshift variant) | Duchenne muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 16 | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type IV +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (nonsense) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 46 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (stop lost) | Seizure | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy | |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder +2 more | |
| | LOC126806425, TTN
+1 more (L17783P +5 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 5A (Zellweger) +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | NEB, RIF1 (P7990fs +1 more) | Deletion (frameshift variant +1 more) | Arthrogryposis multiplex congenita 6 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +8 more | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Seizures, benign familial infantile, 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy | |
| | KCNMA1-AS1, KCNMA1 (N995S +9 more) | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 19 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E1-alpha deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC102724058, SCN1A (P1490fs +5 more) | Duplication (frameshift variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +4 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts +7 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | LOC102724058, SCN1A (R1881* +5 more) | Single nucleotide variant (nonsense +1 more) | Early infantile epileptic encephalopathy with suppression bursts +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (R1202* +5 more) | Single nucleotide variant (nonsense +1 more) | Seizure +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Severe myoclonic epilepsy in infancy +3 more | |
| | | Single nucleotide variant (missense variant) | West syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +1 more) | not provided | |