| | | Copy number loss | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | |
| | | Copy number loss | Combined oxidative phosphorylation defect type 11 | |
| | | Copy number loss | Congenital insensitivity to pain-hypohidrosis syndrome | |
| | | Copy number loss | Infantile neuroaxonal dystrophy | |
| | | Copy number loss | Autosomal recessive polycystic kidney disease | |
| | | Copy number loss | Microcephaly 1, primary, autosomal recessive | |
| | | Copy number loss | Microcephaly 1, primary, autosomal recessive | |
| | | Copy number loss | Combined immunodeficiency due to LRBA deficiency | |
| | | Copy number loss | Combined immunodeficiency due to LRBA deficiency | |
| | | Copy number loss | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Copy number loss | Junctional epidermolysis bullosa with pyloric atresia | |
| | | Copy number loss | Immunodeficiency 104 | |
| | | Copy number loss | Autosomal recessive nonsyndromic hearing loss 1B | |
| | | Single nucleotide variant (missense variant) | Spastic ataxia +2 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | Galactosylceramide beta-galactosidase deficiency | |
| | | Copy number loss | Mitochondrial DNA depletion syndrome 13 | |
| | | Copy number loss | Fructose-biphosphatase deficiency | |
| | | Copy number loss | Mild obesity +3 more | |
| | | Copy number loss | Ethylmalonic encephalopathy | |
| | | Copy number loss | Hirschsprung disease, cardiac defects, and autonomic dysfunction | |
| | | Copy number loss | Primary ciliary dyskinesia 3 | |
| | | Copy number loss | 5p partial monosomy syndrome | |
| | | Copy number loss | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | |
| | | Copy number loss | Leber congenital amaurosis 7 | |
| | | Copy number loss | Cortical dysplasia-focal epilepsy syndrome | |
| | | Copy number loss | Neuronal ceroid lipofuscinosis 3 | |
| | | Copy number loss | Bartter disease type 3 | |
| | | Copy number loss | Combined oxidative phosphorylation defect type 7 | |
| | | Copy number loss | Mucopolysaccharidosis type 6 | |
| | | Copy number loss | Autosomal recessive ataxia due to ubiquinone deficiency | |
| | | Copy number loss | Retinal dystrophy with leukodystrophy | |
| | | Copy number loss | Developmental and epileptic encephalopathy, 28 | |
| | | Copy number loss | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | |
| | | Copy number loss | Cohen syndrome | |
| | | Copy number loss | Cohen syndrome | |
| | | Copy number loss | Cohen syndrome | |
| | | Copy number gain | Cohen syndrome | |
| | | Copy number loss | Cohen syndrome | |
| | | Copy number loss | Cohen syndrome | |
| | | Copy number loss | Cohen syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number loss | Mulibrey nanism syndrome | |
| | | Copy number loss | Intellectual disability, autosomal recessive 13 | |
| | | Copy number loss | Primary familial dilated cardiomyopathy | |
| | | Copy number loss | Hereditary spherocytosis type 3 | |
| | | Copy number loss | Rotor syndrome | |
| | | Copy number loss | Cystinuria +1 more | |
| | | Copy number loss | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | |
| | | Copy number loss | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | |
| | | Microsatellite (frameshift variant +1 more) | Sudden infant death-dysgenesis of the testes syndrome | GPathogenic/Likely pathogenic |
| | CLCNKB, LOC106501713 (E442G +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more | |
| | TAX1BP3, P2RX5-TAX1BP3 (M78T) | Single nucleotide variant (non-coding transcript variant +2 more) | Primary familial dilated cardiomyopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 11 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Trichothiodystrophy 4, nonphotosensitive | |
| | | Duplication (frameshift variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 68 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic otitis media | |
| | | Single nucleotide variant (missense variant) | A2ML1-related disorder | |
| | | Single nucleotide variant (nonsense) | Nonsyndromic otitis media | |
| | | Single nucleotide variant (nonsense) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nonsyndromic otitis media | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic otitis media | |
| | | Single nucleotide variant (nonsense) | Nonsyndromic otitis media | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Adolescent alopeciam dentogingival abnormalitites and intellectual disability | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 1 | |
| | | Single nucleotide variant (missense variant) | Wooly hair, autosomal recessive 3 +1 more | |
| | | Duplication | Achromatopsia 7 | |
| | | Single nucleotide variant (nonsense) | Lamellar ichthyosis | |
| | | Deletion | Autosomal recessive congenital ichthyosis 3 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Autosomal recessive polycystic kidney disease +1 more | GPathogenic/Likely pathogenic |
| | LOC105377967, LOC129997070
+1 more | Deletion | Global developmental delay +2 more | |
| | | Deletion | Tremor +3 more | |
| | LOC101927919, LOC129389624
+3 more | Deletion | Intellectual disability +2 more | |
| | LOC101927919, LOC126859772
+5 more | Deletion | Intellectual disability +2 more | |
| | | Deletion | Delayed speech and language development +2 more | |
| | | Deletion | Generalized non-motor (absence) seizure +2 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 44 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 86 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 86 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy, progressive, infantile-onset, with or without deafness +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Perrault syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 3 | |