| | BLOC1S5-TXNDC5, TXNDC5 (A211S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (E130V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (P107L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (S75G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (R47Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (H91D) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (G6E) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (A249G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | BLOC1S5-TXNDC5, TXNDC5 (P203L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (Q44R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (S184L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (G48R) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (A78T) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (A383P +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (D320N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (E318K +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (K63N) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (L102R) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BLOC1S5-TXNDC5, LOC126859578 +1 more (D310G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (G6R) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (L25Q) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (L23Q) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (L22Q) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (L21Q) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, LOC126859578 +1 more (R314C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (E130K +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (P10R) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (P60L) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (R94Q) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BLOC1S5-TXNDC5, LOC126859578 +1 more (S318R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (P2S) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (H142Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (W99R) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (G32E) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (R7G) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (L24Q) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, TXNDC5 (K105Q) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BLOC1S5-TXNDC5, LOC129995724 +1 more (L8F) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S5-TXNDC5, LOC126859578 +1 more (R295Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Copy number loss | See cases | |
| | LOC129995745, LOC129995746 +557 more | Copy number gain | See cases | |
| | ANKRD66, C6orf201 +2580 more | Copy number gain | See cases | |
| | LOC129995555, LOC129995556 +641 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090751, LOC132090752 +508 more | Copy number gain | See cases | |
| | LOC129995829, LOC129995830 +777 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132089486, LOC132089487 +435 more | Copy number gain | See cases | |
| | LOC129995677, LOC129995678 +331 more | Copy number loss | See cases | |
| | SERPINB9-AS1, SLC22A23 +571 more | Copy number gain | See cases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +159 more | Copy number loss | See cases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +431 more | Copy number loss | See cases | |
| | LOC126859578, LOC126859579 +536 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |