| | | Single nucleotide variant (missense variant) | Abnormality of the musculature +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome type 2 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Deletion | Variegate porphyria +3 more | |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Dilated cardiomyopathy 1G +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1I +1 more | |
| | | Deletion | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Deletion | Ehlers-Danlos syndrome, type 4 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Ehlers-Danlos syndrome, classic type +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary coproporphyria +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Alzheimer disease type 1 +7 more | |
| | HFE, HFE-AS1 (H63D +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +9 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other |
| | HFE, HFE-AS1 (S65C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hemochromatosis +7 more | |
| | | Deletion (frameshift variant +1 more) | Hemochromatosis type 1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hemochromatosis type 1 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hemochromatosis type 1 +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +19 more | GPathogenic/Pathogenic, low penetrance; other; risk factor |
| | | Single nucleotide variant (splice donor variant) | Alzheimer disease type 1 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | Variegate porphyria +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Microvascular complications of diabetes, susceptibility to, 7 +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 48 | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, classic type, 2 | |
| | EGFR, EGFR-AS1 (T790M +3 more) | Single nucleotide variant (missense variant +1 more) | gefitinib response - Efficacy +2 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +3 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy +1 more | GPathogenic; drug response |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder +3 more | |
| | | Single nucleotide variant (nonsense) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Abnormal bleeding +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, classic type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +4 more | GConflicting classifications of pathogenicity |
| | COL5A1, LOC101448202 (H1739Q) | Single nucleotide variant (missense variant) | Marfan syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fibrosis, neurodegeneration, and cerebral angiomatosis +1 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +1 more | GPathogenic/Likely pathogenic |
| | HBB, LOC107133510
+1 more (A130V) | Single nucleotide variant (missense variant) | Hemoglobinopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Diabetes mellitus, permanent neonatal 2 +3 more | GPathogenic/Likely risk allele |
| | | Duplication (frameshift variant) | Multiple endocrine neoplasia, type 1 +2 more | |
| | CACNA1C, CACNA1C-AS1 (R1769H +10 more) | Single nucleotide variant (missense variant) | Long QT syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Wilson disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | LOC126861897, MHRT
+1 more (R1712Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Hypertrophic cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Deletion (frameshift variant +1 more) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (frameshift variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary breast ovarian cancer syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Deletion (splice donor variant) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Amyloidosis, hereditary systemic 1 +2 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Hypercholesterolemia, familial, 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +3 more | GPathogenic/Likely pathogenic |