| | | Deletion (frameshift variant) | Autosomal dominant polycystic kidney disease | |
| | | Single nucleotide variant (missense variant +1 more) | Atrial conduction disease | |
| | | Single nucleotide variant (missense variant) | EPHB4-associated vascular malformation spectrum | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |
| | | Deletion (frameshift variant) | Syndromic intellectual disability | |
| | | Single nucleotide variant (missense variant) | Syndromic intellectual disability | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy | |
| | CLCN5, LOC126863258 (I644V +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with seizures and language delay | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency due to MALT1 deficiency | |
| | EPHB4, LOC126860124 (D823fs) | Deletion (frameshift variant) | EPHB4-associated vascular malformation spectrum | |
| | | Duplication (frameshift variant) | Hereditary hemorrhagic telangiectasia | |
| | | Single nucleotide variant (missense variant) | Dyskinesia with orofacial involvement, autosomal dominant | |
| | | Single nucleotide variant (splice donor variant) | Familial hemiplegic migraine | |
| | LOC126806425, TTN
+1 more (W15048fs +5 more) | Deletion (frameshift variant) | Primary dilated cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (nonsense) | Hereditary predisposition to infections | |
| | | Indel (frameshift variant +1 more) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (intron variant) | Hereditary hemorrhagic telangiectasia | |
| | | Duplication (inframe_insertion) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 83 | |
| | | Single nucleotide variant (missense variant) | Complex neurodevelopmental disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Complex neurodevelopmental disorder | |
| | | Duplication (nonsense +1 more) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cerebellar ataxia | |
| | | Single nucleotide variant (missense variant +1 more) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | |
| | | Deletion (frameshift variant) | Disorder of cardiovascular system | |
| | | Single nucleotide variant (missense variant) | Progeroid and marfanoid aspect-lipodystrophy syndrome | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome | |
| | | Microsatellite (inframe_insertion) | Al-Raqad syndrome | |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 52 | |
| | CASD1, SGCE (V135D +4 more) | Single nucleotide variant (missense variant) | Myoclonus-dystonia syndrome | |
| | | Deletion (nonsense) | Hereditary hemorrhagic telangiectasia | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant polycystic kidney disease | |
| | | Single nucleotide variant (nonsense +1 more) | Intrinsic cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant polycystic kidney disease | |
| | | Deletion (frameshift variant) | Hereditary hemorrhagic telangiectasia | |
| | | Single nucleotide variant (nonsense) | Complex neurodevelopmental disorder | |
| | TTN, TTN-AS1 (I11073fs +5 more) | Duplication (frameshift variant) | Primary dilated cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | RYR1-related myopathy | |
| | | Deletion (frameshift variant) | Polycystic kidney disease 4 | |
| | | Single nucleotide variant (splice donor variant) | Child syndrome | |
| | | Indel (intron variant) | Hereditary hemorrhagic telangiectasia | |
| | | Single nucleotide variant (missense variant +1 more) | Waardenburg syndrome type 4C | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Deletion (inframe_deletion) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (intron variant) | Spinocerebellar ataxia type 37 | |
| | | Duplication (nonsense +1 more) | Hereditary spastic paraplegia 54 | |
| | | Deletion (intron variant) | FG syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (missense variant) | Hereditary hemorrhagic telangiectasia | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, classic type | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant polycystic kidney disease | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 15 | |
| | | Single nucleotide variant (missense variant) | SCN4A-related myopathy, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Microsatellite (frameshift variant) | Spondylocarpotarsal synostosis syndrome | |
| | | Duplication (frameshift variant +1 more) | Hereditary spastic paraplegia 4 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | |
| | | Deletion (frameshift variant +1 more) | X-linked lymphoproliferative disease due to XIAP deficiency | |
| | | Deletion (splice donor variant) | Intellectual disability, autosomal dominant 57 | |
| | | Duplication (frameshift variant) | X-linked osteoporosis with fractures | |
| | | Single nucleotide variant (intron variant) | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (nonsense) | Kindler syndrome | |
| | | Single nucleotide variant (intron variant) | Hematuria, benign familial, 1 | |
| | | Deletion (inframe_deletion) | Inherited primary ovarian failure | |
| | | Deletion (frameshift variant +1 more) | Cerebellar atrophy, developmental delay, and seizures | |
| | | Deletion (frameshift variant +2 more) | Primary dilated cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked Alport syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Duplication (frameshift variant +1 more) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (nonsense) | Erythrokeratodermia variabilis et progressiva 2 | |
| | | Single nucleotide variant (missense variant) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | Syndromic intellectual disability | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 25 | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa dystrophica | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 3, susceptibility to | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation, type 2v | |
| | FPGT-TNNI3K, TNNI3K (L132* +1 more) | Single nucleotide variant (nonsense) | Primary dilated cardiomyopathy | |
| | | Single nucleotide variant (nonsense) | Rajab interstitial lung disease with brain calcifications 2 | |
| | | Single nucleotide variant (missense variant) | Nager syndrome | |
| | | Duplication (frameshift variant) | Autosomal dominant polycystic kidney disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 9 | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy | |