| - GRCh37:
- ChrX:70361140
- GRCh38:
- ChrX:71141290
| MED12 | Q2110E | FG syndrome, MED12-related intellectual disability syndrome, X-linked intellectual disability with marfanoid habitus
| not provided | no assertion provided |
| - GRCh37:
- ChrX:70341514
- GRCh38:
- ChrX:71121664
| MED12 | S317P | X-linked intellectual disability with marfanoid habitus | Likely benign
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70346195
- GRCh38:
- ChrX:71126345
| MED12 | S849F | X-linked intellectual disability with marfanoid habitus | Likely pathogenic
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70352386
- GRCh38:
- ChrX:71132536
| MED12 | | X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type, FG syndrome 1
| Uncertain significance
(Jun 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70344253
- GRCh38:
- ChrX:71124403
| MED12 | | FG syndrome 1, Blepharophimosis - intellectual disability syndrome, MKB type, Cholestasis-pigmentary retinopathy-cleft palate syndrome,
X-linked intellectual disability with marfanoid habitus, FG syndrome 1 | Benign/Likely benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70344010
- GRCh38:
- ChrX:71124160
| MED12 | | X-linked intellectual disability with marfanoid habitus | Uncertain significance
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70360516
- GRCh38:
- ChrX:71140666
| MED12 | M2026V | FG syndrome 1, X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type,
Cholestasis-pigmentary retinopathy-cleft palate syndrome, FG syndrome 1 | Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70357583
- GRCh38:
- ChrX:71137733
| MED12 | T1945S | X-linked intellectual disability with marfanoid habitus | Uncertain significance
(Dec 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70339906
- GRCh38:
- ChrX:71120056
| MED12 | A147T | not provided, FG syndrome 1, X-linked intellectual disability with marfanoid habitus,
Cholestasis-pigmentary retinopathy-cleft palate syndrome, Blepharophimosis - intellectual disability syndrome, MKB type | Uncertain significance
(Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70361221
- GRCh38:
- ChrX:71141371
| MED12 | | X-linked intellectual disability with marfanoid habitus, FG syndrome 1 | Pathogenic/Likely pathogenic
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70349523
- GRCh38:
- ChrX:71129673
| MED12 | | FG syndrome 1, X-linked intellectual disability with marfanoid habitus | Uncertain significance
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70349201
- GRCh38:
- ChrX:71129351
| MED12 | R1205C | X-linked intellectual disability with marfanoid habitus | Uncertain significance
(Apr 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70342678
- GRCh38:
- ChrX:71122828
| LOC126863275, MED12 | L480P | X-linked intellectual disability with marfanoid habitus | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70346312
- GRCh38:
- ChrX:71126462
| MED12 | G888A | X-linked intellectual disability with marfanoid habitus | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70349228
- GRCh38:
- ChrX:71129378
| MED12 | R1214C | X-linked intellectual disability with marfanoid habitus | Uncertain significance
(Aug 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70349963
- GRCh38:
- ChrX:71130113
| MED12 | Q1316E | FG syndrome 1, Blepharophimosis - intellectual disability syndrome, MKB type, X-linked intellectual disability with marfanoid habitus,
FG syndrome 1 | Uncertain significance
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70346198
- GRCh38:
- ChrX:71126348
| MED12 | R850Q | FG syndrome 1, X-linked intellectual disability with marfanoid habitus | Uncertain significance
(May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70344635
- GRCh38:
- ChrX:71124785
| MED12 | M666V | FG syndrome 1, X-linked intellectual disability with marfanoid habitus, X-linked intellectual disability with marfanoid habitus,
Blepharophimosis - intellectual disability syndrome, MKB type, FG syndrome 1, Familial thoracic aortic aneurysm and aortic dissection
| Conflicting interpretations of pathogenicity
(Jun 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70347723
- GRCh38:
- ChrX:71127873
| MED12 | | FG syndrome 1, X-linked intellectual disability with marfanoid habitus | Likely benign
(Nov 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70349580
- GRCh38:
- ChrX:71129730
| MED12 | E1248Q | X-linked intellectual disability with marfanoid habitus | Uncertain significance
(Apr 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70342615
- GRCh38:
- ChrX:71122765
| LOC126863275, MED12 | T459I | FG syndrome 1 | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70355095-70355097
- GRCh38:
- ChrX:71135245-71135247
| MED12 | K1674del | FG syndrome 1, X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type
| Uncertain significance
(Jul 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70344662
- GRCh38:
- ChrX:71124812
| MED12 | L675F | FG syndrome 1, X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type,
Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1 | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70340895
- GRCh38:
- ChrX:71121045
| MED12 | A210P | X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type, FG syndrome 1,
not provided | Uncertain significance
(Nov 5, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70351962
- GRCh38:
- ChrX:71132112
| MED12 | I1387V | Familial thoracic aortic aneurysm and aortic dissection, FG syndrome 1, FG syndrome 1,
Blepharophimosis - intellectual disability syndrome, MKB type, Cholestasis-pigmentary retinopathy-cleft palate syndrome, X-linked intellectual disability with marfanoid habitus,
not provided | Uncertain significance
(Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70346194
- GRCh38:
- ChrX:71126344
| MED12 | S849P | FG syndrome 1, Blepharophimosis - intellectual disability syndrome, MKB type, X-linked intellectual disability with marfanoid habitus
| Uncertain significance
(Aug 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70360648-70360650
- GRCh38:
- ChrX:71140798-71140800
| MED12 | Q2076del | Cardiovascular phenotype, History of neurodevelopmental disorder, X-linked intellectual disability with marfanoid habitus,
FG syndrome 1, Cholestasis-pigmentary retinopathy-cleft palate syndrome, Blepharophimosis - intellectual disability syndrome, MKB type,
FG syndrome 1 | Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70357464
- GRCh38:
- ChrX:71137614
| MED12 | | not provided, Familial thoracic aortic aneurysm and aortic dissection, FG syndrome 1,
Cholestasis-pigmentary retinopathy-cleft palate syndrome, X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type,
FG syndrome 1 | Benign/Likely benign
(Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70349959
- GRCh38:
- ChrX:71130109
| MED12 | | FG syndrome 1, Cholestasis-pigmentary retinopathy-cleft palate syndrome, X-linked intellectual disability with marfanoid habitus,
Blepharophimosis - intellectual disability syndrome, MKB type, FG syndrome 1, not provided,
Familial thoracic aortic aneurysm and aortic dissection | Benign/Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70339715
- GRCh38:
- ChrX:71119865
| MED12 | | X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type, Cholestasis-pigmentary retinopathy-cleft palate syndrome,
FG syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, FG syndrome 1,
not specified | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70352417
- GRCh38:
- ChrX:71132567
| MED12 | | Blepharophimosis - intellectual disability syndrome, MKB type, not specified, not provided,
X-linked intellectual disability with marfanoid habitus, FG syndrome 1 | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70348317
- GRCh38:
- ChrX:71128467
| MED12 | | Blepharophimosis - intellectual disability syndrome, MKB type, not specified, not provided,
FG syndrome 1, X-linked intellectual disability with marfanoid habitus | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70345593
- GRCh38:
- ChrX:71125743
| MED12 | | Blepharophimosis - intellectual disability syndrome, MKB type, not specified, not provided,
X-linked intellectual disability with marfanoid habitus, FG syndrome 1 | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70339498
- GRCh38:
- ChrX:71119648
| MED12 | | Blepharophimosis - intellectual disability syndrome, MKB type, not specified, not provided,
X-linked intellectual disability with marfanoid habitus, FG syndrome 1 | Benign/Likely benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70350038
- GRCh38:
- ChrX:71130188
| MED12 | R1341W | Familial thoracic aortic aneurysm and aortic dissection, X-linked intellectual disability with marfanoid habitus, FG syndrome 1,
not provided | Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70349900
- GRCh38:
- ChrX:71130050
| MED12 | R1295C | FG syndrome 1, not provided, X-linked intellectual disability with marfanoid habitus
| Conflicting interpretations of pathogenicity
(Apr 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70344113
- GRCh38:
- ChrX:71124263
| MED12 | T617A | FG syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, not provided,
X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type, FG syndrome 1
| Conflicting interpretations of pathogenicity
(Oct 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70342373
- GRCh38:
- ChrX:71122523
| MED12 | R422W | FG syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, FG syndrome 1,
X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type, not provided
| Conflicting interpretations of pathogenicity
(Aug 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70341604
- GRCh38:
- ChrX:71121754
| MED12 | S347G | FG syndrome 1, X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type,
FG syndrome 1, not provided, Familial thoracic aortic aneurysm and aortic dissection
| Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70360537
- GRCh38:
- ChrX:71140687
| MED12 | M2033V | Familial thoracic aortic aneurysm and aortic dissection, not provided, FG syndrome 1,
X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type, FG syndrome 1
| Conflicting interpretations of pathogenicity
(Sep 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70351950
- GRCh38:
- ChrX:71132100
| MED12 | A1383T | Inborn genetic diseases, Blepharophimosis - intellectual disability syndrome, MKB type, X-linked intellectual disability with marfanoid habitus,
not provided | Conflicting interpretations of pathogenicity
(Mar 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70351463
- GRCh38:
- ChrX:71131613
| MED12 | P1371S | not provided, Familial thoracic aortic aneurysm and aortic dissection, FG syndrome 1,
X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type, Cholestasis-pigmentary retinopathy-cleft palate syndrome,
FG syndrome 1 | Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70341499
- GRCh38:
- ChrX:71121649
| MED12 | V312L | not specified, not provided, Familial thoracic aortic aneurysm and aortic dissection,
FG syndrome 1, X-linked intellectual disability with marfanoid habitus | Benign/Likely benign
(Aug 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70341169
- GRCh38:
- ChrX:71121319
| MED12 | | Blepharophimosis - intellectual disability syndrome, MKB type, not specified, X-linked intellectual disability with marfanoid habitus,
FG syndrome 1 | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70349947
- GRCh38:
- ChrX:71130097
| MED12 | | History of neurodevelopmental disorder, Cardiovascular phenotype, Blepharophimosis - intellectual disability syndrome, MKB type,
not specified, X-linked intellectual disability with marfanoid habitus, FG syndrome 1
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70346996
- GRCh38:
- ChrX:71127146
| MED12 | | not provided, FG syndrome 1, Cholestasis-pigmentary retinopathy-cleft palate syndrome,
FG syndrome 1, X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome, MKB type
| Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70347781
- GRCh38:
- ChrX:71127931
| MED12 | N1007S | not provided, X-linked intellectual disability with marfanoid habitus | Pathogenic
(Aug 8, 2008) | no assertion criteria provided |
| - GRCh37:
- ChrX:70347217
- GRCh38:
- ChrX:71127367
| MED12 | R961W | Inborn genetic diseases, FG syndrome 1, X-linked intellectual disability with marfanoid habitus,
Blepharophimosis - intellectual disability syndrome, MKB type, Blepharophimosis - intellectual disability syndrome, MKB type, not provided,
FG syndrome 1, Intellectual disability | Pathogenic/Likely pathogenic
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |