| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta type 8 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant +1 more) | Inborn genetic diseases +3 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Congenital myopathy 18 +3 more | |
| | | Deletion (frameshift variant) | Hypokalemic periodic paralysis, type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypokalemic periodic paralysis, type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hypokalemic periodic paralysis, type 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 5 | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypokalemic periodic paralysis, type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Hypokalemic periodic paralysis, type 1 +1 more | |
| | | Microsatellite (frameshift variant) | Malignant hyperthermia, susceptibility to, 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypokalemic periodic paralysis, type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Malignant hyperthermia, susceptibility to, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 5 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Duplication (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Duplication (frameshift variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +4 more | |
| | LOC102724058, SCN1A (G1869E +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +5 more | GConflicting classifications of pathogenicity |
| | LOC102724058, SCN1A (A1772T +5 more) | Single nucleotide variant (missense variant +1 more) | Generalized epilepsy with febrile seizures plus, type 2 +5 more | |
| | LOC102724058, SCN1A (R1202* +5 more) | Single nucleotide variant (nonsense +1 more) | Seizure +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy 6B +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Migraine, familial hemiplegic, 3 +6 more | |
| | | Single nucleotide variant (nonsense +2 more) | Severe myoclonic epilepsy in infancy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts +7 more | |
| | TTN-AS1, TTN (R29904H +5 more) | Single nucleotide variant (missense variant) | not specified +7 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta type 7 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary angioneurotic edema +3 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 3 +6 more | GConflicting classifications of pathogenicity |
| | HFE, HFE-AS1 (H63D +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Cardiomyopathy +9 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other |
| | | Single nucleotide variant (missense variant +1 more) | Juvenile hemochromatosis +19 more | GPathogenic/Pathogenic, low penetrance; other; risk factor |
| | | Deletion (nonsense +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Maturity-onset diabetes of the young type 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Leukemia, acute lymphocytic, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Tuberous sclerosis 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Deletion (frameshift variant) | Tuberous sclerosis syndrome | |
| | | Deletion (nonsense) | Tuberous sclerosis syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Deletion | Osteogenesis imperfecta | |
| | | Duplication | Tuberous sclerosis 1 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Postmenopausal osteoporosis +3 more | |
| | | Deletion | Hypertrophic cardiomyopathy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | MYBPC3-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Hereditary angioedema type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome with multiple lentigines | |
| | | Single nucleotide variant (splice donor variant) | Achondrogenesis, type IA +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +6 more | |
| | | Single nucleotide variant (missense variant) | Chronic obstructive pulmonary disease +3 more | GPathogenic/Pathogenic, low penetrance; other |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Geleophysic dysplasia 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Isolated thoracic aortic aneurysm +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Acromicric dysplasia +10 more | |
| | | Single nucleotide variant (nonsense) | Marfan syndrome +3 more | |
| | FBN1, LOC113939944 (R364*) | Single nucleotide variant (nonsense) | Marfan syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Weill-Marchesani syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial ectopia lentis +10 more | |
| | | Deletion (frameshift variant +2 more) | Osteogenesis imperfecta +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Duplication (frameshift variant) | Tuberous sclerosis syndrome | |
| | | Single nucleotide variant (missense variant) | Tuberous sclerosis 2 | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever +5 more | GPathogenic/Likely pathogenic |
| | LOC126862264, MEFV (K695R) | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever, autosomal dominant +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever, autosomal dominant +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever, autosomal dominant +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever, autosomal dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |