| | TTN, TTN-AS1 (E18482fs +5 more) | Deletion (frameshift variant) | Dilated cardiomyopathy 1G | |
| | | Single nucleotide variant (splice acceptor variant) | Syndromic X-linked intellectual disability Najm type +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (missense variant) | Weaver syndrome | |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Adrenoleukodystrophy | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 42 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Adrenoleukodystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Becker muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Pyridoxine-dependent epilepsy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ABCD1-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, autosomal dominant, type B +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Bronchiectasis with or without elevated sweat chloride 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Duchenne muscular dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion) | Cystic fibrosis | |
| | CFTR, LOC111674472 (W1098R) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | LOC111674472, CFTR (P1013L) | Single nucleotide variant (missense variant) | Cystic fibrosis +2 more | GConflicting classifications of pathogenicity |
| | | Indel (frameshift variant) | Arrhythmogenic right ventricular cardiomyopathy +5 more | |
| | | Microsatellite (inframe_indel +2 more) | SUDDEN INFANT DEATH SYNDROME +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Symmetrical dyschromatosis of extremities +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pyridoxine-dependent epilepsy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more | |
| | LOC126861898, MYH7 (R870H) | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | Adrenoleukodystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis | |
| | | Single nucleotide variant (splice acceptor variant) | Arrhythmogenic right ventricular dysplasia 9 +4 more | |