| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Brugada syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Hypokalemic tubulopathy and deafness | |
| | | Single nucleotide variant (nonsense) | Hypokalemic tubulopathy and deafness | |
| | | Single nucleotide variant (nonsense) | Hypokalemic tubulopathy and deafness | |
| | | Single nucleotide variant (nonsense) | KCNJ16-related disorder | |
| | | Duplication (inframe_insertion) | KCNJ16-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypokalemic tubulopathy and deafness | |
| | | Single nucleotide variant (missense variant) | Hypokalemic tubulopathy and deafness | |
| | | Single nucleotide variant (missense variant) | Hypokalemic tubulopathy and deafness | |
| | | Single nucleotide variant (missense variant) | Hypokalemic tubulopathy and deafness | |
| | | Single nucleotide variant (nonsense) | Hypokalemic tubulopathy and deafness | |
| | | Single nucleotide variant (missense variant) | Hypokalemic tubulopathy and deafness | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Copy number gain | See cases | |
| | ALOX12, ALOX12B +1143 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390924, LOC129390925 +59 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | MIR636, MIR6516 +1033 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |