| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 99 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 40 | |
| | TBCEL-TECTA, TECTA (S366C +1 more) | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 12 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 2 | |
| | | Indel (inframe_indel) | Intellectual disability, autosomal dominant 13 | |
| | | Single nucleotide variant (nonsense) | Neurofibromatosis, type 1 | |
| | | Deletion (frameshift variant +1 more) | Perlman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spherocytosis type 1 | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 | |
| | | Single nucleotide variant (splice acceptor variant) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | |
| | | Deletion (splice acceptor variant +2 more) | Familial cancer of breast | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | LOC123493235, TLL1 (R329*) | Single nucleotide variant (nonsense) | Atrial septal defect 6 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability 94 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 | |
| | | Single nucleotide variant (missense variant) | Familial cold autoinflammatory syndrome 2 | |
| | | Insertion (frameshift variant) | Ehlers-Danlos syndrome, cardiac valvular type | |
| | | Single nucleotide variant (nonsense +1 more) | Senior-Loken syndrome 5 | |
| | | Duplication (frameshift variant) | KBG syndrome | |
| | SYNGAP1, SYNGAP1-AS1 (R321C) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant Parkinson disease 8 | |
| | | Single nucleotide variant (missense variant) | Parkinson disease 18, autosomal dominant, susceptibility to | |
| | | Indel (splice acceptor variant) | Neurofibromatosis, type 1 | |
| | | Deletion (frameshift variant +2 more) | Aortic aneurysm, familial thoracic 9 | |
| | | Single nucleotide variant (missense variant) | Cataract 1 multiple types +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic right ventricular dysplasia 13 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion | Pitt-Hopkins syndrome | |
| | | Single nucleotide variant (splice donor variant) | Epilepsy, familial focal, with variable foci 1 | |
| | | Single nucleotide variant (intron variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy type 7 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease IXb | |
| | | Deletion (inframe_deletion) | Moyamoya disease 2 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 | |
| | LOC129995449, SQSTM1 (Y67C) | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 +1 more | |
| | CNNM2, LOC130004628 (I163T) | Single nucleotide variant (missense variant) | Hypomagnesemia, seizures, and intellectual disability 1 | |
| | | Duplication | Intellectual disability, X-linked 21 | |
| | | Indel (frameshift variant) | Hereditary spastic paraplegia 4 | |
| | | Duplication (splice acceptor variant) | Episodic ataxia type 2 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 6 | |
| | BRCA1, LOC126862571 (S1112fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Deletion (frameshift variant +1 more) | Colorectal cancer, hereditary nonpolyposis, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiac arrhythmia, ankyrin-B-related | |
| | KMT2D, LOC126861520 (R1322fs) | Deletion (frameshift variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Deletion (frameshift variant +1 more) | Congenital myotonia, autosomal recessive form | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 8 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 10 | |
| | | Deletion | Familial ovarian cancer | |
| | LOC102724058, SCN1A (A1005S +5 more) | Single nucleotide variant (missense variant +1 more) | Generalized epilepsy with febrile seizures plus, type 2 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Hypertrophic cardiomyopathy 4 | |
| | | Single nucleotide variant (missense variant) | Becker muscular dystrophy | |
| | | Single nucleotide variant (splice donor variant) | Congenital myotonia, autosomal recessive form | |
| | | Single nucleotide variant (intron variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant +2 more) | Hearing loss, autosomal dominant 37 | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism type 1B +1 more | |
| | | Deletion | Familial adenomatous polyposis 4 | |
| | | Indel (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 5 | |
| | | Single nucleotide variant (missense variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tuberous sclerosis 2 | |
| | | Deletion (frameshift variant) | Neurofibromatosis, type 1 | |
| | | Single nucleotide variant (nonsense +2 more) | Familial cancer of breast +1 more | |
| | | Deletion (frameshift variant +1 more) | Hereditary diffuse gastric adenocarcinoma +2 more | GConflicting classifications of pathogenicity |
| | | Deletion | Breast-ovarian cancer, familial, susceptibility to, 4 | |
| | | Single nucleotide variant (nonsense) | Fanconi anemia complementation group C | |
| | | Indel (frameshift variant) | Neurofibromatosis, type 1 | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 5 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, type B | |
| | | Single nucleotide variant (nonsense) | Jalili syndrome | |
| | | Single nucleotide variant (missense variant) | Hemochromatosis type 4 | |
| | | Single nucleotide variant (missense variant) | Hypokalemic periodic paralysis, type 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Coffin-Siris syndrome 1 | |
| | | Microsatellite (frameshift variant) | Polycystic liver disease 3 with or without kidney cysts | Gno classifications from unflagged records |
| | | Single nucleotide variant (missense variant) | Neurofibromatosis-Noonan syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with central hypotonia and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Blepharophimosis - intellectual disability syndrome, SBBYS type | |
| | | Deletion | Breast-ovarian cancer, familial, susceptibility to, 3 | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Deletion (nonsense) | Myofibrillar myopathy 5 | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 4 | |