Total 27 pathogenic variants reported for Blepharophimosis - intellectual disability syndrome, MKB type 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) SNV
Germline		 ChrX:71127367 Pathogenic/Likely pathogenic FG syndrome 1
6 conditions
Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus
FG syndrome 1
Blepharophimosis - intellectual disability syndrome, MKB type
Intellectual disability
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
FG syndrome
MED12-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA324786 rs_80338758

16 SubmittersRCV000012276RCV000415294RCV000763632RCV001330015RCV001261368RCV001528259RCV004018614RCV003764560RCV005862708
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) SNV
Germline		 ChrX:71128686 Conflicting classifications of pathogenicity Blepharophimosis - intellectual disability syndrome, MKB type
Condition: not provided
FG syndrome 1
FG syndrome		 Criteria Provided
Conflicting Classifications
 CA143730 rs_387907360

5 SubmittersRCV000043499RCV001268310RCV001580266RCV005089401
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) SNV
Germline		 ChrX:71129131 Pathogenic Blepharophimosis - intellectual disability syndrome, MKB type
FG syndrome 1		 No Assertion Criteria Provided
 CA143731 rs_387907361

2 SubmittersRCV000043500RCV001580267
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) SNV
Germline		 ChrX:71136440 Pathogenic Blepharophimosis - intellectual disability syndrome, MKB type
FG syndrome 1		 No Assertion Criteria Provided
 CA143732 rs_387907362

2 SubmittersRCV000043501RCV001580268
NM_005120.3(MED12):c.2849+14C>T SNV
Germline		 ChrX:71127146 Conflicting classifications of pathogenicity Condition: not provided
FG syndrome
FG syndrome 1
X-linked intellectual disability with marfanoid habitus
Blepharophimosis - intellectual disability syndrome, MKB type
Cholestasis-pigmentary retinopathy-cleft palate syndrome		 Criteria Provided
Conflicting Classifications
 CA222837 rs_398124196

3 SubmittersRCV000081259RCV003595860RCV002483145
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) SNV
Germline		 ChrX:71121754 Conflicting classifications of pathogenicity Condition: not provided
X-linked intellectual disability with marfanoid habitus
Blepharophimosis - intellectual disability syndrome, MKB type
FG syndrome 1
Familial thoracic aortic aneurysm and aortic dissection
FG syndrome		 Criteria Provided
Conflicting Classifications
 CA322114 rs_752300879

4 SubmittersRCV000197655RCV000766102RCV002315604RCV003595889
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) SNV
Germline		 ChrX:71122523 Conflicting classifications of pathogenicity Condition: not provided
X-linked intellectual disability with marfanoid habitus
FG syndrome 1
Blepharophimosis - intellectual disability syndrome, MKB type
Familial thoracic aortic aneurysm and aortic dissection
FG syndrome		 Criteria Provided
Conflicting Classifications
 CA324409 rs_368913305

6 SubmittersRCV000735096RCV000766103RCV002408870RCV003761820
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) SNV
Germline		 ChrX:71124263 Conflicting classifications of pathogenicity X-linked intellectual disability with marfanoid habitus
FG syndrome 1
Blepharophimosis - intellectual disability syndrome, MKB type
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
FG syndrome		 Criteria Provided
Conflicting Classifications
 CA277526 rs_765417606

5 SubmittersRCV000199251RCV000224083RCV002315605RCV003761821
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) SNV
Germline		 ChrX:71132100 Conflicting classifications of pathogenicity Condition: not provided
FG syndrome 1
Inborn genetic diseases
Blepharophimosis - intellectual disability syndrome, MKB type
FG syndrome		 Criteria Provided
Conflicting Classifications
 CA320088 rs_863223696

6 SubmittersRCV000195723RCV000239402RCV000622415RCV001808556RCV003595886
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) SNV
Germline		 ChrX:71140687 Conflicting classifications of pathogenicity X-linked intellectual disability with marfanoid habitus
FG syndrome 1
Blepharophimosis - intellectual disability syndrome, MKB type
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
FG syndrome
MED12-related disorder		 Criteria Provided
Conflicting Classifications
 CA319847 rs_372606012

5 SubmittersRCV000766104RCV001721275RCV002354550RCV003595887RCV003985305
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys) SNV
Germline		 ChrX:71134816 Pathogenic/Likely pathogenic Condition: not provided
Blepharophimosis - intellectual disability syndrome, MKB type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16608571 rs_727503868

2 SubmittersRCV000431564RCV002065007
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) SNV
Germline		 ChrX:71141950 Likely pathogenic Condition: not provided
Blepharophimosis - intellectual disability syndrome, MKB type
FG syndrome 1		 Criteria Provided
Single Submitter
 CA413544296 rs_1085307941

3 SubmittersRCV000488923RCV001290305RCV001580333
NM_005120.3(MED12):c.1547G>A (p.Arg516His) SNV
Germline		 ChrX:71123156 Pathogenic Condition: not provided
FG syndrome 1
Blepharophimosis - intellectual disability syndrome, MKB type
FG syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413507386 rs_1556334969

4 SubmittersRCV000520254RCV001580301RCV004767327RCV005091239
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) SNV
Germline		 ChrX:71121602 Pathogenic/Likely pathogenic Inborn genetic diseases
FG syndrome 1
Blepharophimosis - intellectual disability syndrome, MKB type
Condition: not provided
FG syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413504438 rs_1556334519

8 SubmittersRCV000623246RCV001580299RCV001805226RCV003117433RCV003596075
NM_005120.3(MED12):c.1996A>G (p.Met666Val) SNV
Germline		 ChrX:71124785 Conflicting classifications of pathogenicity X-linked intellectual disability with marfanoid habitus
FG syndrome 1
Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
FG syndrome		 Criteria Provided
Conflicting Classifications
 CA413510493 rs_1401003961

5 SubmittersRCV001198284RCV002071852RCV002418659RCV003438719RCV003770216
NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser) SNV
Unknown		 ChrX:71137213 Likely pathogenic Blepharophimosis - intellectual disability syndrome, MKB type No Assertion Criteria Provided
 CA413536577 rs_2092334822

1 SubmittersRCV001251842
NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg) SNV
Unknown		 ChrX:71141369 Likely pathogenic Blepharophimosis - intellectual disability syndrome, MKB type No Assertion Criteria Provided
 CA413542657 rs_2092347481

1 SubmittersRCV001251843
NM_005120.3(MED12):c.3646G>A (p.Val1216Met) SNV
Germline		 ChrX:71129384 Pathogenic/Likely pathogenic Condition: not provided
FG syndrome 1
Blepharophimosis - intellectual disability syndrome, MKB type
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413520321 rs_2147805923

4 SubmittersRCV001566891RCV001580313RCV002283551RCV003128434
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn) SNV
Germline		 ChrX:71126468 Likely pathogenic FG syndrome 1
Blepharophimosis - intellectual disability syndrome, MKB type		 No Assertion Criteria Provided
 CA413515970 rs_2147796647

2 SubmittersRCV001580305RCV004770177
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) SNV
Germline		 ChrX:71128655 Pathogenic/Likely pathogenic FG syndrome 1
MED12-related disorder
Blepharophimosis - intellectual disability syndrome, MKB type
Cholestasis-pigmentary retinopathy-cleft palate syndrome
MED12-related intellectual disability syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413519185 rs_1057523906

6 SubmittersRCV001580311RCV003985512RCV002287504RCV003152766RCV004594366
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter) SNV
Germline		 ChrX:71141922 Likely pathogenic FG syndrome 1
Blepharophimosis - intellectual disability syndrome, MKB type		 No Assertion Criteria Provided
 CA413544080 rs_2147844887

2 SubmittersRCV001580332RCV004770178
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) SNV
Germline		 ChrX:71120056 Conflicting classifications of pathogenicity X-linked intellectual disability with marfanoid habitus
Cholestasis-pigmentary retinopathy-cleft palate syndrome
FG syndrome 1
Blepharophimosis - intellectual disability syndrome, MKB type
Condition: not provided
FG syndrome
MED12-related disorder		 Criteria Provided
Conflicting Classifications
 CA10444038 rs_748453083

4 SubmittersRCV002503255RCV003238147RCV003772106RCV003985518
NM_005120.3(MED12):c.1248+3A>G SNV
Germline		 ChrX:71122349 Likely pathogenic Blepharophimosis - intellectual disability syndrome, MKB type Criteria Provided
Single Submitter
 CA2573159609 rs_2147782173

1 SubmittersRCV002249101
NM_005120.3(MED12):c.4413G>A (p.Lys1471=) SNV
Germline		 ChrX:71132536 Conflicting classifications of pathogenicity X-linked intellectual disability with marfanoid habitus
Blepharophimosis - intellectual disability syndrome, MKB type
FG syndrome 1
FG syndrome		 Criteria Provided
Conflicting Classifications
 CA516819660 rs_2092320033

2 SubmittersRCV002266659RCV005095948
NM_005120.3(MED12):c.6352C>T (p.Gln2118Ter) SNV
Germline		 ChrX:71141314 Pathogenic Blepharophimosis - intellectual disability syndrome, MKB type Criteria Provided
Single Submitter

1 SubmittersRCV004723554
NM_005120.3(MED12):c.6439C>T (p.Gln2147Ter) SNV
Germline		 ChrX:71141913 Likely pathogenic Blepharophimosis - intellectual disability syndrome, MKB type Criteria Provided
Single Submitter

1 SubmittersRCV005411190