| | LOC129993645, LOC129993646 +419 more | Copy number loss | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | |
| | | Copy number loss | See cases | |
| | LOC129993633, LOC129993634 +532 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129993624, LOC129993625 +559 more | Copy number loss | See cases | |
| | LOC132089296, LOC132089297 +139 more | Copy number gain | See cases | |
| | ADAMTS16, ADAMTS16-DT +553 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129993692, LOC129993693 +561 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +478 more | Copy number loss | See cases | |
| | LOC132089252, LOC132089253 +75 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +697 more | Copy number loss | See cases | |
| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | LOC126807323, LOC126807324 +530 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +231 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +537 more | Copy number loss | See cases | |
| | LOC132090721, LOC132090722 +556 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +384 more | Copy number loss | See cases | |
| | LOC126807286, LOC126807287 +384 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +542 more | Copy number gain | See cases | |
| | LOC108254683, LOC110120635 +559 more | Copy number gain | See cases | |
| | ADAMTS16, ADAMTS16-DT +561 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +559 more | Copy number loss | See cases | |
| | LOC112997550, LOC112997551 +462 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +473 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +606 more | Copy number loss | See cases | |
| | LOC132089294, LOC132089295 +113 more | Copy number gain | See cases | |
| | LOC126807328, LOC126807329 +559 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +388 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +642 more | Copy number gain | See cases | |
| | LOC129993561, LOC129993562 +552 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +318 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129993559, LOC129993560 +384 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +538 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +272 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129993643, LOC129993644 +521 more | Copy number loss | See cases | |
| | LOC132090723, LOC132090724 +182 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +461 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +574 more | Copy number loss | See cases | |
| | ADAMTS12, ADAMTS16 +953 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +461 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +226 more | Copy number loss | See cases | |
| | LINC02116, LINC02120 +696 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +952 more | Copy number gain | See cases | |
| | ADAMTS16, ADAMTS16-DT +227 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +443 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +300 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +231 more | Copy number loss | See cases | |
| | ADAMTS12, ADAMTS16 +657 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | 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 | |
| | LOC132089273, SLC9A3 +2 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC9A3, SLC9A3-AS1 (M825I +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | SLC9A3-AS1, SLC9A3 (S822P +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SLC9A3, SLC9A3-AS1 (A827D +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | SLC9A3, SLC9A3-AS1 (P815T +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SLC9A3, SLC9A3-AS1 (E813K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SLC9A3, SLC9A3-AS1 (K809N +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | SLC9A3, SLC9A3-AS1 (S808N +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | SLC9A3, SLC9A3-AS1 (F795I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SLC9A3, SLC9A3-AS1 (C790R +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | SLC9A3, SLC9A3-AS1 (F789C +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | SLC9A3, SLC9A3-AS1 (T797S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | SLC9A3, SLC9A3-AS1 (G787R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | SLC9A3, SLC9A3-AS1 (G787S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SLC9A3-related disorder | |