| | | Single nucleotide variant (missense variant) | TARDBP-related frontotemporal dementia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | TARDBP-related frontotemporal dementia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 10 +2 more | |
| | | Single nucleotide variant (missense variant) | TARDBP-related frontotemporal dementia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Familial adenomatous polyposis 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 2 +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion +2 more) | Familial adenomatous polyposis 2 +2 more | GPathogenic/Likely pathogenic |
| | FPGT-TNNI3K, TNNI3K (P786S +1 more) | Single nucleotide variant (missense variant) | Atrial conduction disease +1 more | |
| | ADAMTSL4, ADAMTSL4-AS2 (E382fs) | Deletion (frameshift variant) | Ectopia lentis et pupillae +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Dilated cardiomyopathy 1A +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Cardiomyopathy, familial restrictive, 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Duplication (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | |
| | | Microsatellite (inframe_deletion) | Lynch syndrome | |
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Lynch syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Microsatellite (nonsense) | Lynch syndrome | |
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy with febrile seizures plus, type 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 10 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome | |
| | | Single nucleotide variant (intron variant) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | See cases +1 more | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 46 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive polycystic kidney disease +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Lynch syndrome | |
| | | Duplication (frameshift variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Global developmental delay +1 more | |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | FLNC, FLNC-AS1 (G2118S +1 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 5 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 8 +2 more | |
| | | Duplication (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Global developmental delay +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease 3 with or without polycystic liver disease +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Familial cancer of breast +4 more | |
| | | Indel (missense variant +1 more) | Familial cancer of breast +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Duplication | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | BRCA2-related cancer predisposition | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | BRCA2-related cancer predisposition | |
| | | Duplication (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (non-coding transcript variant +4 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, hereditary nonpolyposis, type 7 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +11 more | GPathogenic/Likely pathogenic |
| | JMJD8, STUB1 (P171L +1 more) | Single nucleotide variant (missense variant +2 more) | Spinocerebellar ataxia 48 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Recurrent fever +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraparesis +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cardiovascular phenotype +4 more | |
| | | Deletion (frameshift variant) | Neurofibromatosis, type 1 +1 more | |
| | | Single nucleotide variant (nonsense) | NF1-related disorder +10 more | |
| | RAD51D, RAD51L3-RFFL (R232* +2 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 4 +5 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 +2 more | GPathogenic/Likely pathogenic |
| | BRCA1, LOC126862571 (E1163fs +21 more) | Duplication (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |