| - GRCh37:
- Chr4:148461121
- GRCh38:
- Chr4:147539969
| EDNRA | | not provided, Migraine with or without aura, susceptibility to, 1, Mandibulofacial dysostosis with alopecia
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:148457009-148457010
- GRCh38:
- Chr4:147535857-147535858
| EDNRA | | not provided, Mandibulofacial dysostosis with alopecia, Migraine with or without aura, susceptibility to, 1
| Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:148461073
- GRCh38:
- Chr4:147539921
| EDNRA | | Mandibulofacial dysostosis with alopecia, not provided | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:148461037
- GRCh38:
- Chr4:147539885
| EDNRA | | not provided, Mandibulofacial dysostosis with alopecia | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:148406857
- GRCh38:
- Chr4:147485705
| EDNRA | | Migraine with or without aura, susceptibility to, 1, Mandibulofacial dysostosis with alopecia, not provided
| Benign/Likely benign
(Nov 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:148461604
- GRCh38:
- Chr4:147540452
| EDNRA | | not provided, Migraine with or without aura, susceptibility to, 1, Mandibulofacial dysostosis with alopecia
| Benign/Likely benign
(Oct 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:148453648
- GRCh38:
- Chr4:147532496
| EDNRA | | not provided, Migraine with or without aura, susceptibility to, 1, Mandibulofacial dysostosis with alopecia
| Likely benign
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:148407187
- GRCh38:
- Chr4:147486035
| EDNRA | | Migraine with or without aura, susceptibility to, 1, Mandibulofacial dysostosis with alopecia, not provided
| Likely benign
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:148463632
- GRCh38:
- Chr4:147542480
| EDNRA | | not provided, Migraine with or without aura, susceptibility to, 1, Mandibulofacial dysostosis with alopecia
| Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:148460975
- GRCh38:
- Chr4:147539823
| EDNRA | E303K, E194K | Mandibulofacial dysostosis with alopecia | Pathogenic
(Apr 2, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:148407219
- GRCh38:
- Chr4:147486067
| EDNRA | Y129F | Mandibulofacial dysostosis with alopecia | Pathogenic
(Apr 2, 2015) | no assertion criteria provided |