| | | Indel (frameshift variant +1 more) | Koolen-de Vries syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital diarrhea 6 | |
| | | Single nucleotide variant (splice donor variant) | X-linked sideroblastic anemia 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 5 | |
| | | Single nucleotide variant (missense variant +2 more) | Pfeiffer syndrome | |
| | | Single nucleotide variant (nonsense) | Lymphatic malformation 9 | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive nonsyndromic hearing loss 28 | |
| | LOC126806422, TTN
+1 more (E14274fs +5 more) | Deletion (frameshift variant) | Dilated cardiomyopathy 1G | |
| | | Deletion (inframe_deletion) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (nonsense) | Aortic valve disease 1 | |
| | | Indel (frameshift variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1Y | |
| | | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 2 | |
| | | Single nucleotide variant (nonsense) | Agammaglobulinemia 10, autosomal dominant | |
| | LOC130067016, LZTR1 (C34fs) | Deletion (frameshift variant) | Noonan syndrome 2 | |
| | | Single nucleotide variant (splice donor variant) | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Supranuclear palsy, progressive, 1 | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 14 | |
| | | Single nucleotide variant (splice acceptor variant) | Arrhythmogenic right ventricular dysplasia, familial, 14 | |
| | | Single nucleotide variant (missense variant) | Cyanosis, transient neonatal | |
| | | Deletion (inframe_deletion) | Heterotaxy, visceral, 4, autosomal | |
| | | Single nucleotide variant (splice acceptor variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (E18008fs +5 more) | Insertion (non-coding transcript variant +1 more) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 58 | |
| | | Single nucleotide variant (splice acceptor variant) | Mowat-Wilson syndrome | |
| | | Single nucleotide variant (intron variant) | Micromelia | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Asphyxiating thoracic dystrophy 3 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Cardiac, facial, and digital anomalies with developmental delay | |
| | | Deletion (inframe_deletion +2 more) | Cornelia de Lange syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Arthrogryposis multiplex congenita 3, myogenic type | |
| | | Single nucleotide variant (nonsense) | Arthrogryposis multiplex congenita 3, myogenic type | |
| | | Deletion (frameshift variant) | Koolen-de Vries syndrome | |
| | | Microsatellite (nonsense) | Episodic ataxia type 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Diaphragmatic hernia 3 | |
| | | Single nucleotide variant (nonsense +1 more) | Global developmental delay | |
| | | Duplication (nonsense) | Joubert syndrome 10 | |
| | | Single nucleotide variant (missense variant) | Hypophosphatasia +3 more | GPathogenic/Likely pathogenic |
| | LOC112543452, MAST1 (W766R) | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Deletion (frameshift variant +1 more) | Hypertrophic cardiomyopathy 9 | |
| | | Single nucleotide variant (missense variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (missense variant) | 4p partial monosomy syndrome | |
| | | Duplication (nonsense) | Global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Non-immune hydrops fetalis +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Episodic ataxia type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nager syndrome | |
| | | Single nucleotide variant (nonsense) | Poirier-Bienvenu neurodevelopmental syndrome | |
| | | Single nucleotide variant (nonsense) | Non-immune hydrops fetalis | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Non-immune hydrops fetalis | |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | Landau-Kleffner syndrome | |
| | | Single nucleotide variant (missense variant) | Trichothiodystrophy 3, photosensitive | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (nonsense) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | DNAH9, LOC126862505 (R995fs) | Deletion (frameshift variant) | Non-immune hydrops fetalis +2 more | |
| | | Deletion (inframe_deletion) | Lissencephaly due to TUBA1A mutation | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Single nucleotide variant (missense variant +1 more) | Schwartz-Jampel syndrome | |
| | | Single nucleotide variant (missense variant) | Non-immune hydrops fetalis | |
| | | Single nucleotide variant (missense variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (nonsense) | Non-immune hydrops fetalis | |
| | | Single nucleotide variant (missense variant +1 more) | Thanatophoric dysplasia type 1 | |
| | | Deletion (frameshift variant) | Genitopatellar syndrome | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 | |
| | | Single nucleotide variant (nonsense) | Non-immune hydrops fetalis | |
| | | Single nucleotide variant (nonsense) | Non-immune hydrops fetalis | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (nonsense) | Basilicata-Akhtar syndrome | |
| | | Single nucleotide variant (missense variant) | Non-immune hydrops fetalis +1 more | |
| | | Deletion (frameshift variant) | Non-immune hydrops fetalis | |
| | | Single nucleotide variant (missense variant) | Schaaf-Yang syndrome | |
| | | Single nucleotide variant (nonsense) | Coffin-Lowry syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | BIVM-ERCC5, ERCC5
+1 more (D1184G +1 more) | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 3 | |
| | | Single nucleotide variant (nonsense +1 more) | Childhood apraxia of speech | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 | |
| | | Duplication (frameshift variant) | Non-immune hydrops fetalis | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome | |
| | | Single nucleotide variant (missense variant) | MEHMO syndrome | |
| | | Deletion (frameshift variant) | Kabuki syndrome 1 | |
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 1 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal recessive 44 | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal dominant pseudohypoaldosteronism type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 2 | |
| | | Deletion (frameshift variant) | Oto-palato-digital syndrome, type II | |
| | | Deletion (splice donor variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Non-immune hydrops fetalis | |
| | | Single nucleotide variant (missense variant) | Non-immune hydrops fetalis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 5 | |
| | | Microsatellite (frameshift variant +1 more) | CHD7-related disorder +1 more | |