| | | Deletion (frameshift variant) | X-linked intellectual disability with marfanoid habitus +3 more | |
| | | Deletion (inframe_deletion) | X-linked intellectual disability with marfanoid habitus +3 more | |
| | | Single nucleotide variant (nonsense) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | |
| | | Duplication (frameshift variant) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | |
| | | Deletion (frameshift variant) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Cholestasis-pigmentary retinopathy-cleft palate syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Deletion (inframe_deletion) | Blepharophimosis - intellectual disability syndrome, MKB type +5 more | |
| | LOC126863275, MED12 (M580fs) | Deletion (frameshift variant) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | |
| | | Single nucleotide variant (nonsense) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | |
| | | Single nucleotide variant (intron variant) | FG syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus +4 more | |
| | | Single nucleotide variant (missense variant) | FG syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | |
| | | Single nucleotide variant (nonsense) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | |
| | | Single nucleotide variant (nonsense) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | |
| | | Single nucleotide variant (nonsense) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | |
| | | Indel (frameshift variant) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | |
| | | Single nucleotide variant (missense variant) | Blepharophimosis - intellectual disability syndrome, MKB type +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | FG syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Microsatellite (inframe_deletion) | FG syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | |
| | | Single nucleotide variant (synonymous variant) | FG syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | FG syndrome 1 +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | GConflicting classifications of pathogenicity |