| | | Single nucleotide variant (missense variant) | Epileptic spasm +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epileptic spasm +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Elliptocytosis 2 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Elliptocytosis 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Fumarase deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +7 more | GPathogenic/Likely pathogenic |
| | UGT1A, UGT1A1 +8 more (P229Q) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (missense variant) | Action myoclonus-renal failure syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E1-beta deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E1-beta deficiency | |
| | | Single nucleotide variant (missense variant) | Premature ovarian failure 21 +1 more | |
| | | Deletion (frameshift variant +1 more) | Premature ovarian failure 21 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Premature ovarian failure 21 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Premature ovarian failure 21 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Maple syrup urine disease type 1B +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Obesity +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dihydropyrimidinase deficiency | |
| | | Single nucleotide variant (missense variant) | ALDOB-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | HBB, LOC107133510 +1 more (L115P) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | HBB, LOC106099062 +1 more (V68M) | Single nucleotide variant (missense variant) | HEMOGLOBIN BRISTOL +1 more | |
| | | Single nucleotide variant (missense variant) | Periodontitis, aggressive 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ACAD8-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | ACADS-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deficiency of butyryl-CoA dehydrogenase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Type 2 diabetes mellitus +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Peripheral neuropathy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Neuronopathy, distal hereditary motor, autosomal recessive 8 | |
| | | Single nucleotide variant (missense variant) | Isolated anophthalmia-microphthalmia syndrome | |
| | ALDH1A3, ALDH1A3-AS1 (G130R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Isolated anophthalmia-microphthalmia syndrome | |
| | ALDH1A3-AS1, ALDH1A3 (M375fs +1 more) | Deletion (frameshift variant) | Microphthalmia | |
| | HBA2, LOC106804612 (C105R) | Single nucleotide variant (missense variant) | alpha Thalassemia | GPathogenic/Likely pathogenic |
| | HBA2, LOC106804612 (L126P) | Single nucleotide variant (missense variant) | Hemoglobin H disease +4 more | |
| | HBA1, LOC106804613 (V63del) | Deletion (inframe_deletion) | Hemoglobin H disease, nondeletional +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Basal cell carcinoma, susceptibility to, 7 +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Amyloidosis, hereditary systemic 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Amyloidosis, hereditary systemic 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Indel (missense variant) | Cardiovascular phenotype +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Amyloidosis, hereditary systemic 1 | |
| | | Single nucleotide variant (missense variant) | Amyloidosis, hereditary systemic 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Amyloidosis, hereditary systemic 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Amyloidosis, hereditary systemic 1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Amyloidosis, hereditary systemic 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ATTRV122I amyloidosis +12 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +5 more | |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | | Leukoencephalopathy +1 more | |