| - GRCh37:
- ChrX:68059574
- GRCh38:
- ChrX:68839731
| EFNB1 | M158I | Craniofrontonasal syndrome | Pathogenic
(Jul 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68049712-68049725
- GRCh38:
- ChrX:68829869-68829882
| EFNB1 | P34fs | Craniofrontonasal syndrome | Pathogenic
(May 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68058741
- GRCh38:
- ChrX:68838898
| EFNB1 | | Craniofrontonasal syndrome | Uncertain significance
(May 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68058523
- GRCh38:
- ChrX:68838680
| EFNB1 | R66fs | Craniofrontonasal syndrome | Pathogenic
(Nov 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68058480
- GRCh38:
- ChrX:68838637
| EFNB1 | L50* | Craniofrontonasal syndrome | Pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68049748
- GRCh38:
- ChrX:68829905
| EFNB1 | | Craniofrontonasal syndrome | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68059573
- GRCh38:
- ChrX:68839730
| EFNB1 | M158R | Craniofrontonasal syndrome | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68058675
- GRCh38:
- ChrX:68838832
| EFNB1 | Q115R | not provided, Craniofrontonasal syndrome | Conflicting interpretations of pathogenicity
(Nov 19, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:68049730
- GRCh38:
- ChrX:68829887
| EFNB1 | W37* | Craniofrontonasal syndrome | Pathogenic
(May 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68060503
- GRCh38:
- ChrX:68840660
| EFNB1 | | not provided, Craniofrontonasal syndrome | Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:68058513
- GRCh38:
- ChrX:68838670
| EFNB1 | D61G | Craniofrontonasal syndrome | Likely pathogenic
(Jul 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68049752
- GRCh38:
- ChrX:68829909
| EFNB1 | | Craniofrontonasal syndrome | Likely pathogenic
(Dec 7, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68060089-68060090
- GRCh38:
- ChrX:68840246-68840247
| EFNB1 | V212fs | Craniofrontonasal syndrome | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:68049643
- GRCh38:
- ChrX:68829800
| EFNB1 | W8* | Craniofrontonasal syndrome | Likely pathogenic
(May 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68059551-68059552
- GRCh38:
- ChrX:68839708-68839709
| EFNB1 | R154fs | Craniofrontonasal syndrome | Likely pathogenic
(Apr 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68058584
- GRCh38:
- ChrX:68838741
| EFNB1 | Q85* | Craniofrontonasal syndrome | Pathogenic
(Jan 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68059600-68059605
- GRCh38:
- ChrX:68839757-68839762
| EFNB1 | | Craniofrontonasal syndrome | Likely pathogenic
(Jun 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68060205
- GRCh38:
- ChrX:68840362
| EFNB1 | I250S | Craniofrontonasal syndrome | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68059600
- GRCh38:
- ChrX:68839757
| EFNB1 | | Craniofrontonasal syndrome | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:68059826
- GRCh38:
- ChrX:68839983
| EFNB1 | Q175* | Craniofrontonasal syndrome | Likely pathogenic
(Apr 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68059863-68059864
- GRCh38:
- ChrX:68840020-68840021
| EFNB1 | T188fs | Craniofrontonasal syndrome | Pathogenic
(Jan 13, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68058462
- GRCh38:
- ChrX:68838619
| EFNB1 | F44S | Craniofrontonasal syndrome | Likely pathogenic
(Feb 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68049749
- GRCh38:
- ChrX:68829906
| EFNB1 | | Craniofrontonasal syndrome | Pathogenic
(Oct 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68059869
- GRCh38:
- ChrX:68840026
| EFNB1 | V189A | not provided, Craniofrontonasal syndrome | Benign
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:68059864
- GRCh38:
- ChrX:68840021
| EFNB1 | N187fs | Craniofrontonasal syndrome | Pathogenic
(Sep 17, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68059566
- GRCh38:
- ChrX:68839723
| EFNB1 | R156C | Craniofrontonasal syndrome, not provided | Conflicting interpretations of pathogenicity
(Jan 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:68059507
- GRCh38:
- ChrX:68839664
| EFNB1 | S136L | Craniofrontonasal syndrome | Likely pathogenic
(Sep 17, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68058602
- GRCh38:
- ChrX:68838759
| EFNB1 | T91P | Craniofrontonasal syndrome | Uncertain significance
(Sep 17, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:68059108-68067502
- GRCh38:
- ChrX:68839265-68847659
| EFNB1 | | Craniofrontonasal syndrome | Pathogenic
(Apr 15, 2013) | no assertion criteria provided |
| - GRCh37:
- ChrX:68059596
- GRCh38:
- ChrX:68839753
| EFNB1 | Q166* | Craniofrontonasal syndrome | Pathogenic
(Apr 15, 2013) | no assertion criteria provided |
| - GRCh37:
- ChrX:68058527
- GRCh38:
- ChrX:68838684
| EFNB1 | R66* | not provided, Craniofrontonasal syndrome | Pathogenic
(Nov 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:68049729
- GRCh38:
- ChrX:68829886
| EFNB1 | W37* | Craniofrontonasal syndrome | Pathogenic
(Jun 1, 2006) | no assertion criteria provided |
| - GRCh37:
- ChrX:68049728
- GRCh38:
- ChrX:68829885
| EFNB1 | W37G | Craniofrontonasal syndrome | Pathogenic
(Jun 1, 2006) | no assertion criteria provided |
| - GRCh37:
- ChrX:68059574
- GRCh38:
- ChrX:68839731
| EFNB1 | M158I | Craniofrontonasal syndrome | Pathogenic
(Jun 8, 2004) | no assertion criteria provided |
| - GRCh37:
- ChrX:68059572
- GRCh38:
- ChrX:68839729
| EFNB1 | M158V | Craniofrontonasal syndrome | Pathogenic
(Jun 8, 2004) | no assertion criteria provided |
| - GRCh37:
- ChrX:68059552
- GRCh38:
- ChrX:68839709
| EFNB1 | G151V | Craniofrontonasal syndrome | Pathogenic
(Jun 8, 2004) | no assertion criteria provided |
| - GRCh37:
- ChrX:68059551
- GRCh38:
- ChrX:68839708
| EFNB1 | G151S | not provided, Craniofrontonasal syndrome | Pathogenic
(Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:68058492
- GRCh38:
- ChrX:68838649
| EFNB1 | P54L | not provided, Craniofrontonasal syndrome | Pathogenic/Likely pathogenic
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:68058663
- GRCh38:
- ChrX:68838820
| EFNB1 | T111I | Craniofrontonasal syndrome | Pathogenic
(Jun 1, 2004) | no assertion criteria provided |
| | EFNB1 | | Craniofrontonasal syndrome | Pathogenic
(Jun 1, 2004) | no assertion criteria provided |