| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ADAMTS17, ALDH1A3 +19 more | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058072, SELENOS (E17K) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058072, SELENOS (S9F) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058072, SELENOS (E5D) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ADAMTS17, ALDH1A3 +23 more | Copy number gain | not specified | |
| | ADAMTS17, ALDH1A3 +19 more | Copy number loss | not specified | |
| | ADAMTS17, ALDH1A3 +19 more | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | LOC130058072, SELENOS (G18R) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | LOC130058072, SELENOS (G18E) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | ADAMTS17, ALDH1A3 +19 more | Copy number loss | not specified | |
| | ADAMTS17, ALDH1A3 +21 more | Copy number loss | not specified | |
| | ADAMTS17, ALDH1A3 +21 more | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ADAMTS17, ALDH1A3 +29 more | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Chromosome 15q26-qter deletion syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ADAMTS17, ALDH1A3 +54 more | Copy number gain | not provided | |
| | ADAMTS17, ALDH1A3 +22 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | ADAMTS17, ALDH1A3 +26 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +19 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +21 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +18 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +12 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +19 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +51 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | SLC24A1, SLC28A1 +310 more | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | CHSY1, LOC125146369 +12 more | Copy number loss | Premature ovarian failure | |
| | ADAMTS17, ALDH1A3 +205 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +165 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +179 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +203 more | Copy number loss | See cases | |
| | CHSY1, LOC100507472 +29 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057806, LOC130057807 +1763 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +159 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +121 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +228 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +185 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +184 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +171 more | Copy number loss | See cases | |
| | LOC121530602, LOC121530603 +517 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +202 more | Copy number loss | See cases | |
| | LOC130057831, LOC130057832 +664 more | Copy number gain | See cases | |
| | CHSY1, LOC100507472 +20 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +69 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |