| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (T33A +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (P9L) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (E176Q +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (V52fs) | Deletion (non-coding transcript variant +2 more) | Hermansky-Pudlak syndrome 11 | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (A118V +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (G17D) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (P9S) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (H84R +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (R68C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (M1R) | Single nucleotide variant (non-coding transcript variant +3 more) | Hermansky-Pudlak syndrome 11 | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (M1V) | Single nucleotide variant (missense variant +2 more) | BLOC1S5-related disorder | |
| | | Copy number gain | not provided | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more | Single nucleotide variant (splice acceptor variant) | BLOC1S5-related disorder | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (T57I) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (R95G +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (I36M) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (S20G) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (E7*) | Single nucleotide variant (non-coding transcript variant +2 more) | Hermansky-Pudlak syndrome 11 | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (E13K +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (R81S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (R58H) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (E104G +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (R35W +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (K3N +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Deletion | Hermansky-Pudlak syndrome 11 | |
| | | Copy number gain | not provided | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (Q72fs +2 more) | Deletion (non-coding transcript variant +1 more) | Hermansky-Pudlak syndrome 11 +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Hermansky-Pudlak syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995778, LOC129995779 +559 more | Copy number gain | See cases | |
| | ILRUN-AS1, IP6K3 +2582 more | Copy number gain | See cases | |
| | LOC129995681, LOC129995682 +643 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +437 more | Copy number gain | See cases | |
| | LOC129995677, LOC129995678 +331 more | Copy number loss | See cases | |
| | LOC129995802, LOC129995803 +573 more | Copy number gain | See cases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +159 more | Copy number loss | See cases | |
| | LOC123575663, LOC123575664 +433 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |