| | BLOC1S5, BLOC1S5-TXNDC5
+159 more | Copy number loss | See cases | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Duplication | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cardiomyopathy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiomyopathy +4 more | |
| | | Single nucleotide variant (missense variant) | Woolly hair-skin fragility syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lethal acantholytic epidermolysis bullosa +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Arrhythmogenic right ventricular dysplasia 8 +8 more | |
| | | Single nucleotide variant (synonymous variant) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiomyopathy +8 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cardiomyopathy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +7 more | |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Cardiovascular phenotype +7 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |