| | LOC130057806, LOC130057807 +1763 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057831, LOC130057832 +664 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057938, LOC130057939 +611 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121530602, LOC121530603 +517 more | Copy number gain | See cases | |
| | LOC129390732, LOC129390733 +500 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +422 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +228 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +205 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +218 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +202 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +203 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +201 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +195 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +184 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +185 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +184 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +179 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +174 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +171 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +165 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +159 more | Copy number loss | See cases | |
| | LOC130058070, LOC130058071 +148 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +127 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +121 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +69 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +84 more | Copy number loss | See cases | |
| | CHSY1, LOC100507472 +29 more | Copy number gain | See cases | |
| | CHSY1, LOC125146369 +12 more | Copy number loss | Premature ovarian failure | |
| | CHSY1, LOC100507472 +20 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | CHSY1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Temtamy preaxial brachydactyly syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | Temtamy preaxial brachydactyly syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |