| - GRCh37:
- ChrX:70352761-70352768
- GRCh38:
- ChrX:71132911-71132918
| MED12 | Q1495fs | Cholestasis-pigmentary retinopathy-cleft palate syndrome | Pathogenic
(Jun 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70356757
- GRCh38:
- ChrX:71136907
| MED12 | G1810V | Cholestasis-pigmentary retinopathy-cleft palate syndrome | Uncertain significance
(Jan 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70343561
- GRCh38:
- ChrX:71123711
| LOC126863275, MED12 | M580fs | Cholestasis-pigmentary retinopathy-cleft palate syndrome | Likely pathogenic
(Jan 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70361155
- GRCh38:
- ChrX:71141305
| MED12 | Q2115* | Cholestasis-pigmentary retinopathy-cleft palate syndrome | Pathogenic | 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: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:70339906
- GRCh38:
- ChrX:71120056
| MED12 | A147T | not provided, MED12-related condition, X-linked intellectual disability with marfanoid habitus,
FG syndrome 1, Cholestasis-pigmentary retinopathy-cleft palate syndrome, Blepharophimosis - intellectual disability syndrome, MKB type
| Uncertain significance
(Aug 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70344994
- GRCh38:
- ChrX:71125144
| MED12 | Q742* | Cholestasis-pigmentary retinopathy-cleft palate syndrome | Pathogenic
(Jun 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70360609
- GRCh38:
- ChrX:71140759
| MED12 | Q2057* | Cholestasis-pigmentary retinopathy-cleft palate syndrome | Pathogenic
(Mar 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70357107
- GRCh38:
- ChrX:71137257
| MED12 | Y1874* | Cholestasis-pigmentary retinopathy-cleft palate syndrome | Pathogenic
(Dec 16, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:70356216
- GRCh38:
- ChrX:71136366
| MED12 | W1704* | Cholestasis-pigmentary retinopathy-cleft palate syndrome | Pathogenic
(Dec 16, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:70354981-70354984
- GRCh38:
- ChrX:71135131-71135134
| MED12 | V1635fs | Cholestasis-pigmentary retinopathy-cleft palate syndrome | Pathogenic
(Dec 16, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:70348505
- GRCh38:
- ChrX:71128655
| MED12 | R1138W | Blepharophimosis - intellectual disability syndrome, MKB type, Cholestasis-pigmentary retinopathy-cleft palate syndrome, MED12-related condition
| Conflicting interpretations of pathogenicity
(Feb 23, 2023) | criteria provided, conflicting interpretations |
| - 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:70339307
- GRCh38:
- ChrX:71119457
| MED12 | V62I | Cholestasis-pigmentary retinopathy-cleft palate syndrome, FG syndrome 1, Familial thoracic aortic aneurysm and aortic dissection
| Uncertain significance
(Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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 | | 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 | Benign/Likely benign
(Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70349959
- GRCh38:
- ChrX:71130109
| MED12 | | FG syndrome 1, Blepharophimosis - intellectual disability syndrome, MKB type, Cholestasis-pigmentary retinopathy-cleft palate syndrome,
X-linked intellectual disability with marfanoid habitus, Familial thoracic aortic aneurysm and aortic dissection, FG syndrome 1,
not provided | Benign/Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70339715
- GRCh38:
- ChrX:71119865
| MED12 | | FG syndrome 1, Cholestasis-pigmentary retinopathy-cleft palate syndrome, Blepharophimosis - intellectual disability syndrome, MKB type,
X-linked intellectual disability with marfanoid habitus, FG syndrome 1, not specified,
Familial thoracic aortic aneurysm and aortic dissection | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70351463
- GRCh38:
- ChrX:71131613
| MED12 | P1371S | not provided, Familial thoracic aortic aneurysm and aortic dissection, FG syndrome 1,
FG syndrome 1, X-linked intellectual disability with marfanoid habitus, Cholestasis-pigmentary retinopathy-cleft palate syndrome,
Blepharophimosis - intellectual disability syndrome, MKB type | Likely benign
(Oct 18, 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 |