| | TTN, TTN-AS1 (K14008fs +5 more) | Deletion (frameshift variant) | Dilated cardiomyopathy 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1KK | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Episodic pain syndrome, familial, 2 | |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 8 | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy, dilated, 2I | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 26 | |
| | | Duplication (nonsense) | Dilated cardiomyopathy 1G | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Microsatellite (intron variant +1 more) | Sudden cardiac failure, alcohol-induced | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy, familial hypertrophic, 28 | |
| | | Deletion (frameshift variant) | Dilated cardiomyopathy 1S +2 more | |
| | | Single nucleotide variant (missense variant) | Autism, susceptibility to, X-linked 4 | |
| | | Deletion (frameshift variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Deletion (frameshift variant +1 more) | Biotinidase deficiency | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal recessive 65 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
| | | Deletion (splice donor variant) | Severe intellectual disability-progressive spastic diplegia syndrome | |
| | USP7, USP7-AS1 (Q475fs +3 more) | Deletion (frameshift variant +1 more) | Hao-Fountain syndrome | |
| | | Single nucleotide variant (missense variant) | Complex cortical dysplasia with other brain malformations 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Bosch-Boonstra-Schaaf optic atrophy syndrome | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with language impairment and behavioral abnormalities | |
| | | Indel (frameshift variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Duplication (frameshift variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 6 | |
| | | Deletion (frameshift variant) | Intellectual disability, X-linked 99, syndromic, female-restricted | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | |
| | | Single nucleotide variant (nonsense) | Trichorhinophalangeal dysplasia type I | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 1 | |
| | | Single nucleotide variant (missense variant) | Wiedemann-Steiner syndrome | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal recessive 43 | |
| | | Single nucleotide variant (missense variant) | Primary familial hypertrophic cardiomyopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Alstrom syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease type III | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | MED12L, P2RY12 (I1361V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | CEP104-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Noonan syndrome 9 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 | |
| | | Duplication (frameshift variant) | Hypertrophic cardiomyopathy +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Autosomal recessive nonsyndromic hearing loss 12 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | TCF12-related craniosynostosis | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 1 | |
| | FANCA, ZNF276 (I1396M +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Vissers-Bodmer syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion (frameshift variant) | Sphingolipid activator protein 1 deficiency | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with hypotonia and gross motor and speech delay +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 14 | |
| | | Indel (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | |
| | | Single nucleotide variant (missense variant) | Congenital muscular hypertrophy-cerebral syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | 8q24.3 microdeletion syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (splice donor variant) | Syndromic X-linked intellectual disability Nascimento type | |
| | | Deletion (frameshift variant) | NSD2-associated disorder +1 more | |
| | | Deletion (inframe_deletion +1 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | LOC108281177, SOX2
+1 more (N33fs) | Duplication (frameshift variant) | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 20 | |
| | | Duplication (frameshift variant +1 more) | Neu-Laxova syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 2 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 49 | |
| | | Insertion (frameshift variant) | DYRK1A-related intellectual disability syndrome | |
| | | Deletion (frameshift variant +1 more) | FLNC-associated cardiomyopathy | |
| | | Single nucleotide variant (splice donor variant) | Variegate porphyria | |
| | | Indel (frameshift variant +1 more) | Pitt-Hopkins syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Combined immunodeficiency due to GINS1 deficiency | |
| | | Single nucleotide variant (nonsense) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | |
| | GINS1, LOC130065587 (E18fs) | Indel (frameshift variant +1 more) | Combined immunodeficiency due to GINS1 deficiency | |
| | | Deletion (frameshift variant) | Koolen-de Vries syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital isolated adrenocorticotropic hormone deficiency | |
| | | Deletion (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with central and peripheral motor dysfunction | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with central and peripheral motor dysfunction | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | SMAD2-congenital heart disease and multiple congenital anomaly disorder | |
| | | Duplication (frameshift variant) | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 10 | |