| | A2ML1, A2ML1-AS1 +477 more | Deletion | Tumoral calcinosis, hyperphosphatemic, familial, 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007649, LOC130007650 +1258 more | Copy number gain | See cases | |
| | LOC124625919, LOC124625920 +1009 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | LOC130007425, LOC130007426 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007339, LOC130007340 +698 more | Copy number gain | See cases | |
| | LOC130007275, LOC130007276 +97 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 3, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia, isolated, with coloboma 6 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 3, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | GDF3-related condition +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 3, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 3, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | GDF3-related condition | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 3, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Isolated microphthalmia 7 | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 3, autosomal dominant +3 more | |
| | | Single nucleotide variant (synonymous variant) | GDF3-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Klippel-Feil syndrome 3, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 3, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 3, autosomal dominant | |
| | | 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 (splice donor variant) | GDF3-related condition | |
| | | 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 provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Klippel-Feil syndrome 3, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 3, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Klippel-Feil syndrome 3, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Copy number gain | not specified | |
| | | Duplication | not provided | |
| | | Copy number gain | Pallister-Killian syndrome | |
| | | Duplication | Lymphoproliferative syndrome 2 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | not provided | |
| | | Duplication | Temtamy syndrome | |
| | | Duplication | Peroxisome biogenesis disorder 2B | |
| | | Copy number gain | Single transverse palmar crease +6 more | |
| | | Duplication | Klippel-Feil syndrome 3, autosomal dominant | |
| | | Copy number gain | not provided | |
| | | Duplication | Developmental and epileptic encephalopathy, 21 | |
| | | Duplication | Temtamy syndrome | |
| | | Copy number gain | 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 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | | Copy number gain | See cases | |