| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Indel (nonsense) | Primary dilated cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | Familial partial lipodystrophy, Dunnigan type +20 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | TTN, TTN-AS1 (R26807C +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Methylcobalamin deficiency type cblE +2 more | |
| | | Deletion (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | LOC127814297, POU4F3 (N316K) | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 15 +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +2 more) | Lynch syndrome | |
| | | Single nucleotide variant (splice donor variant) | Pendred syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pendred syndrome | |
| | | Duplication (splice donor variant) | Primary ciliary dyskinesia +3 more | |
| | | Deletion (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Usher syndrome type 1C +4 more | |
| | | Deletion | Hypertrophic cardiomyopathy +4 more | |
| | | Duplication (frameshift variant) | Primary familial hypertrophic cardiomyopathy +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Deletion (splice acceptor variant) | Stickler syndrome | |
| | | Microsatellite (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | |
| | | Single nucleotide variant (missense variant) | Monogenic diabetes | |
| | | Single nucleotide variant (nonsense) | Hereditary breast ovarian cancer syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (synonymous variant) | Left ventricular noncompaction 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (splice donor variant +1 more) | not specified | |
| | | Deletion (frameshift variant) | Danon disease | |