| | | Single nucleotide variant (missense variant) | GLUT1 deficiency syndrome 1, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 19 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 19 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome 4 +7 more | GPathogenic/Likely pathogenic |
| | | Deletion | Muir-Torré syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +13 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ventricular tachycardia, somatic | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiac arrhythmia, ankyrin-B-related +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +1 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Renal carnitine transport defect +1 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | RASopathy +7 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | PTEN hamartoma tumor syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy | |
| | | Single nucleotide variant (missense variant +1 more) | HRAS-related disorder +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | TNF receptor-associated periodic fever syndrome (TRAPS) +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Deletion (nonsense) | Epidermolysis bullosa simplex | |
| | | Deletion (splice acceptor variant) | Epidermolysis bullosa simplex | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (nonsense) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (synonymous variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (nonsense) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without early-onset generalized epilepsy | |
| | | Indel (frameshift variant) | Acral peeling skin syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | CDH13, LOC101928417 +1 more | Copy number gain | See cases | |
| | | Single nucleotide variant (splice donor variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Neurofibromatosis, type 1 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (nonsense) | Cardiovascular phenotype +4 more | |
| | | Deletion (frameshift variant) | Neurofibromatosis-Noonan syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 +5 more | |
| | | Duplication (frameshift variant) | Neurofibromatosis, type 1 +5 more | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Deletion (inframe_deletion) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex | |
| | | Deletion (frameshift variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | TTR-related disorder +7 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | Okur-Chung neurodevelopmental syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | HNRNPH2, RPL36A-HNRNPH2 (R206W) | Single nucleotide variant (3 prime UTR variant +1 more) | Intellectual disability, X-linked, syndromic, Bain type +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Creatine transporter deficiency | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |