| | | Single nucleotide variant (missense variant) | FG syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus | |
| | | Single nucleotide variant (synonymous variant) | FG syndrome 1 +2 more | |
| | | Single nucleotide variant (intron variant) | FG syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | FG syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus +4 more | |
| | | Single nucleotide variant (missense variant) | FG syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | MED12-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | FG syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | FG syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus | |
| | LOC126863275, MED12 (L480P) | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | FG syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | FG syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | FG syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | FG syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus | |
| | LOC126863275, MED12 (T459I) | Single nucleotide variant (missense variant) | FG syndrome | |
| | | Microsatellite (inframe_deletion) | FG syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Wilms tumor 1 +4 more | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | FG syndrome | |
| | | Single nucleotide variant (missense variant) | FG syndrome 1 +2 more | |
| | | Microsatellite (inframe_deletion) | Cholestasis-pigmentary retinopathy-cleft palate syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | FG syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | FG syndrome 1 +6 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +7 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Blepharophimosis - intellectual disability syndrome, MKB type +4 more | |
| | | Single nucleotide variant (intron variant) | Blepharophimosis - intellectual disability syndrome, MKB type +4 more | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus +3 more | |
| | | Single nucleotide variant (missense variant) | FG syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | FG syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | FG syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | FG syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Blepharophimosis - intellectual disability syndrome, MKB type +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | FG syndrome 1 +7 more | |
| | | Single nucleotide variant (missense variant) | FG syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | FG syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | FG syndrome +6 more | |
| | | Single nucleotide variant (intron variant) | FG syndrome 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | FG syndrome +6 more | GPathogenic/Likely pathogenic |