| | LINC02522, LINC02525 +823 more | Copy number gain | See cases | |
| | LOC132089500, LOC132090749 +641 more | Copy number gain | See cases | |
| | LOC129995714, LOC129995715 +777 more | Copy number gain | See cases | |
| | LOC129995520, LOC129995521 +610 more | Copy number loss | See cases | |
| | LOC121106426, LOC121113497 +557 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC02521, LINC02522 +508 more | Copy number gain | See cases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +435 more | Copy number gain | See cases | |
| | LOC129995778, LOC129995779 +571 more | Copy number gain | See cases | |
| | LOC126859546, LOC126859547 +431 more | Copy number loss | See cases | |
| | LOC129995630, LOC129995631 +536 more | Copy number gain | See cases | |
| | LOC129389446, LOC129389447 +617 more | Copy number loss | See cases | |
| | LOC129995913, LOC129995914 +1340 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +159 more | Copy number loss | See cases | |
| | BLOC1S5-TXNDC5, LOC126859578 +1 more (S318R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC126859578 +1 more (R314C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC126859578 +1 more (D310G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC126859578 +1 more (R295Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | BLOC1S5-TXNDC5, TXNDC5 (A383P +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, TXNDC5 (D320N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, TXNDC5 (E318K +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, TXNDC5 (P203L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, TXNDC5 (S184L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TXNDC5, BLOC1S5-TXNDC5 (H142Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TXNDC5, BLOC1S5-TXNDC5 (E130K +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | TXNDC5, BLOC1S5-TXNDC5 (Q44R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | TXNDC5, BLOC1S5-TXNDC5 (K105Q) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, TXNDC5 (L102R) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, TXNDC5 (W99R) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, TXNDC5 (R94Q) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, TXNDC5 (A78T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, TXNDC5 (K63N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, TXNDC5 (P60L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, TXNDC5 (G48R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (G32E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (L25Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (L24Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (L23Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (L22Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (L21Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (P10R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (L8F) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (R7G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (G6R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (P2S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EEF1E1-BLOC1S5, BLOC1S5-TXNDC5 +1 more (E104G +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | EEF1E1-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 (Q72fs +2 more) | Deletion (non-coding transcript variant +1 more) | Hermansky-Pudlak syndrome +1 more | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more | Single nucleotide variant (splice acceptor variant) | BLOC1S5-related condition | |
| | EEF1E1-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 (R95G +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | EEF1E1-BLOC1S5, BLOC1S5 +1 more (E13K +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | EEF1E1-BLOC1S5, BLOC1S5 +1 more (K3N +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (M1V) | Single nucleotide variant (missense variant +2 more) | BLOC1S5-related condition | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (R58H) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (T57I) | 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 | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (E7*) | Single nucleotide variant (non-coding transcript variant +2 more) | Hermansky-Pudlak syndrome 11 | |
| | BLOC1S5, BLOC1S5-TXNDC5 +1 more (M1R) | Single nucleotide variant (non-coding transcript variant +3 more) | Hermansky-Pudlak syndrome 11 | |