| | | Single nucleotide variant (missense variant) | Sjögren-Larsson syndrome | |
| | | Single nucleotide variant (missense variant) | Cataract 49 | |
| | | Single nucleotide variant (nonsense) | Tangier disease | |
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 94 | |
| | | Duplication (nonsense) | X-linked central congenital hypothyroidism with late-onset testicular enlargement +1 more | |
| | | Single nucleotide variant (nonsense) | Idiopathic cardiomyopathy | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | TTN, TTN-AS1 (Q24035* +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | GConflicting classifications of pathogenicity |
| | | Indel (nonsense) | Nemaline myopathy 5 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex I deficiency +3 more | |
| | | Deletion (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Usher syndrome type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Primary familial hypertrophic cardiomyopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary familial hypertrophic cardiomyopathy +2 more | GConflicting classifications of pathogenicity |
| | DNAAF3, DNAAF3-AS1 (L108P +2 more) | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 2 | |