NM_005120.3(MED12):c.3884G>A (p.Arg1295His)Pathogenic
FG syndrome 1|not provided|FG syndrome|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2026→ Residue 1295
NM_005120.3(MED12):c.3646G>A (p.Val1216Met)Pathogenic
not provided|FG syndrome 1|Blepharophimosis - intellectual disability syndrome, MKB type|See cases
★★☆☆2025→ Residue 1216
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)Pathogenic
Inborn genetic diseases|FG syndrome 1|Blepharophimosis - intellectual disability syndrome, MKB type|not provided|FG syndrome|MED12-related intellectual disability syndrome
★★☆☆2025→ Residue 296
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)Pathogenic
FG syndrome 1|6 conditions|FG syndrome 1;Blepharophimosis - intellectual disability syndrome, MKB type;X-linked intellectual disability with marfanoid habitus|Intellectual disability|not provided|Blepharophimosis - intellectual disability syndrome, MKB type|FG syndrome|Familial thoracic aortic aneurysm and aortic dissection|MED12-Related Disorders
★★☆☆2025→ Residue 961
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)Pathogenic
not provided|FG syndrome 1|X-linked intellectual disability with marfanoid habitus|FG syndrome
★★☆☆2025→ Residue 1295
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)Pathogenic
X-linked intellectual disability with marfanoid habitus|not provided|FG syndrome 1|FG syndrome
★★☆☆2024→ Residue 1007
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys)Likely pathogenic
FG syndrome 1|FG syndrome
★★☆☆2024→ Residue 516
NM_005120.3(MED12):c.1547G>A (p.Arg516His)Pathogenic
not provided|FG syndrome 1|FG syndrome|Blepharophimosis - intellectual disability syndrome, MKB type
★★☆☆2024→ Residue 516
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)Pathogenic
FG syndrome 1|Blepharophimosis - intellectual disability syndrome, MKB type|Cholestasis-pigmentary retinopathy-cleft palate syndrome|MED12-Related Disorders|MED12-related intellectual disability syndrome
★★☆☆2024→ Residue 1138
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln)Likely pathogenic
FG syndrome 1|not provided
★★☆☆2024→ Residue 621
NM_005120.3(MED12):c.4483_4490del (p.Gln1495fs)Pathogenic
Cholestasis-pigmentary retinopathy-cleft palate syndrome|Nonspecific Intellectual Disability|MED12-Related Disorders
★★☆☆2024→ Residue 1495
NM_005120.3(MED12):c.5920C>T (p.Gln1974Ter)Pathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection|Nonspecific Intellectual Disability
★★☆☆2024→ Residue 1974
NM_005120.3(MED12):c.5625del (p.Gly1876fs)Pathogenic
Cholestasis-pigmentary retinopathy-cleft palate syndrome
★★☆☆2024→ Residue 1876
NM_005120.3(MED12):c.6408+1G>APathogenic
X-linked intellectual disability with marfanoid habitus|FG syndrome|MED12-Related Disorders
★★☆☆2024
NM_005120.3(MED12):c.5898dup (p.Ser1967fs)Pathogenic
FG syndrome 1|not provided|MED12-related intellectual disability syndrome
★★☆☆2023→ Residue 1967
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, MKB type
★★☆☆2022→ Residue 1611
NM_005120.3(MED12):c.4070G>A (p.Arg1357His)Pathogenic
FG syndrome 1|not provided|FG syndrome|MED12-Related Disorders
★★☆☆2022→ Residue 1357
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser)Likely pathogenic
FG syndrome 1|not provided
★★☆☆2016→ Residue 1169
NM_005120.3(MED12):c.3851G>A (p.Arg1284His)Likely pathogenic
not provided
★☆☆☆2025→ Residue 1284
NM_005120.3(MED12):c.1753C>T (p.Arg585Ter)Likely pathogenic
X-linked MED12-related disorders
★☆☆☆2025→ Residue 585