| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome +3 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +7 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +7 more | GConflicting classifications of pathogenicity |
| | | Deletion | BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Kufor-Rakeb syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Carney-Stratakis syndrome +7 more | |
| | | Single nucleotide variant (splice acceptor variant) | Myopathy, congenital, progressive, with scoliosis | |
| | | Indel (missense variant) | Hearing loss, autosomal dominant 85 | |
| | | Deletion (splice acceptor variant +1 more) | Schwartz-Jampel syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | C1Q deficiency 2 | |
| | | Deletion (frameshift variant +1 more) | RH-NULL, AMORPH TYPE | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital disorder of glycosylation, type Ibb | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 14 +1 more | |
| | | Deletion (frameshift variant) | ARID1A-related BAFopathy +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Erythrokeratodermia variabilis et progressiva 1 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant +2 more) | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | |
| | | Single nucleotide variant (nonsense) | Dystonia 9 +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cryohydrocytosis with reduced stomatin +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | POMGNT1, TSPAN1 (E251D +2 more) | Single nucleotide variant (missense variant) | Muscle eye brain disease +3 more | |
| | POMGNT1, TSPAN1 (L120R +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 76 | |
| | | Deletion (splice acceptor variant +2 more) | Mitochondrial complex 3 deficiency, nuclear type 11 | |
| | FAAH, LOC129930482 (P129T) | Single nucleotide variant (missense variant) | PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 75 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Desmosterolosis | |
| | | Deletion (splice acceptor variant +1 more) | Bartter disease type 4A | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | Autoimmune disease, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Glycogen storage disease type III | |
| | | Single nucleotide variant (nonsense +1 more) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Isolated growth hormone deficiency, type 5 +1 more | |
| | | Single nucleotide variant (nonsense) | Catecholaminergic polymorphic ventricular tachycardia 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | |
| | | Deletion (splice acceptor variant +1 more) | Lipid proteinosis | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 87 | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 87 | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 87 | |
| | | Microsatellite (frameshift variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Loricrin keratoderma | |
| | | Single nucleotide variant (missense variant +3 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Kostmann syndrome | |
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 52 | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to LMNA mutation | |
| | | Single nucleotide variant (missense variant) | Primary familial dilated cardiomyopathy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hutchinson-Gilford syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +3 more | |
| | | Duplication (frameshift variant +1 more) | Primary dilated cardiomyopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary insensitivity to pain with anhidrosis | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Hereditary insensitivity to pain with anhidrosis +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary insensitivity to pain with anhidrosis | |
| | | Deletion (frameshift variant) | DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 98 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Indel | Paragangliomas 3 | |
| | ADCY10, DCAF6 (T142M +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Congenital isolated adrenocorticotropic hormone deficiency +1 more | |
| | LOC129931894, SLC19A2 (P51L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary antithrombin deficiency | |
| | | Microsatellite (frameshift variant) | Hereditary antithrombin deficiency | |
| | | Deletion (frameshift variant) | Hereditary antithrombin deficiency | |
| | | Single nucleotide variant (missense variant) | Hereditary antithrombin deficiency | |
| | AXDND1, NPHS2 (A288T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 69 | |
| | | Duplication (frameshift variant) | Epidermolysis bullosa, junctional 3A, intermediate | |
| | | Duplication (splice acceptor variant +1 more) | C3 glomerulonephritis | |
| | | Deletion (inframe_deletion) | Immunodeficiency 105 | |
| | | Single nucleotide variant (splice acceptor variant) | Malignant hyperthermia, susceptibility to, 5 +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Cardiomyopathy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Cardiomyopathy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hypertrophic cardiomyopathy 2 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Inflammatory bowel disease +1 more | |
| | | Single nucleotide variant (splice donor variant) | Familial Atypical Hemolytic-Uremic Syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Orofacial cleft 6, susceptibility to +4 more | |
| | | Deletion (splice acceptor variant +1 more) | Lymphedema-posterior choanal atresia syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Usher syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +6 more | |
| | | Deletion (frameshift variant) | not specified +22 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Greenberg dysplasia | |
| | | Single nucleotide variant (missense variant +2 more) | Hypercholanemia, familial 1 | |