| - GRCh37:
- Chr13:78472381-78472399
- GRCh38:
- Chr13:77898246-77898264
| EDNRB, EDNRB-AS1 | K422fs, K512fs | Waardenburg syndrome type 4A | Uncertain significance
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:78477289
- GRCh38:
- Chr13:77903154
| EDNRB, EDNRB-AS1 | | Waardenburg syndrome type 4A | Likely pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr13:78477290
- GRCh38:
- Chr13:77903155
| EDNRB, EDNRB-AS1 | | Waardenburg syndrome type 4A | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:78472452
- GRCh38:
- Chr13:77898317
| EDNRB, EDNRB-AS1 | W404*, W494* | not provided, Hirschsprung disease, susceptibility to, 2, Waardenburg syndrome type 4A,
ABCD syndrome | Uncertain significance
(Nov 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:78493733
- GRCh38:
- Chr13:77919598
| EDNRB, LOC107882129 | C6* | Waardenburg syndrome, Waardenburg syndrome type 4A | Conflicting interpretations of pathogenicity
(Aug 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:78474085
- GRCh38:
- Chr13:77899950
| EDNRB-AS1, EDNRB | D368V, D458V | Waardenburg syndrome type 4A | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr13:78477315
- GRCh38:
- Chr13:77903180
| EDNRB, EDNRB-AS1 | V260fs, V350fs | Waardenburg syndrome type 4A | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr22:38369574-38369588
- GRCh38:
- Chr22:37973567-37973581
| POLR2F, SOX10 | | Waardenburg syndrome type 4A | Pathogenic
(Mar 7, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr13:78477673
- GRCh38:
- Chr13:77903538
| EDNRB, EDNRB-AS1 | V185M, V275M | not provided, Hearing impairment, Aganglionosis, total intestinal,
Waardenburg syndrome type 4A, Hirschsprung disease, susceptibility to, 2 | Conflicting interpretations of pathogenicity
(Jun 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38374143
- GRCh38:
- Chr22:37978136
| POLR2F, SOX10 | | Waardenburg syndrome type 4A | Pathogenic
(Oct 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:78477314
- GRCh38:
- Chr13:77903179
| EDNRB, EDNRB-AS1 | V260F, V350F | not provided | Benign/Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:78477301
- GRCh38:
- Chr13:77903166
| EDNRB, EDNRB-AS1 | A264V, A354V | Waardenburg syndrome type 4A | Uncertain significance
(Apr 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr13:78474768
- GRCh38:
- Chr13:77900633
| EDNRB-AS1, EDNRB | V325I, V415I | not provided, Waardenburg syndrome type 4A | Uncertain significance
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:78477676
- GRCh38:
- Chr13:77903541
| EDNRB-AS1, EDNRB | S184P, S274P | Waardenburg syndrome type 4A | Likely pathogenic
(Nov 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr13:78477705
- GRCh38:
- Chr13:77903570
| EDNRB-AS1, EDNRB | C174fs, C264fs | Waardenburg syndrome type 4A | Pathogenic
(Nov 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr13:78492652
- GRCh38:
- Chr13:77918517
| EDNRB | C109*, C19* | Waardenburg syndrome type 4A | Pathogenic/Likely pathogenic
(Feb 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr13:78492306
- GRCh38:
- Chr13:77918171
| EDNRB | G135S, G225S | Waardenburg syndrome type 4A | Uncertain significance
(May 15, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr13:78472379
- GRCh38:
- Chr13:77898244
| EDNRB, EDNRB-AS1 | G429R, G519R | Hirschsprung Disease, Recessive, Waardenburg syndrome, not specified,
ABCD syndrome, Hirschsprung disease, susceptibility to, 2, Waardenburg syndrome type 4A,
Inborn genetic diseases, not provided | Uncertain significance
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:78477674
- GRCh38:
- Chr13:77903539
| EDNRB, EDNRB-AS1 | | not specified, Waardenburg syndrome type 4A, ABCD syndrome,
Hirschsprung disease, susceptibility to, 2, Waardenburg syndrome type 4A, ABCD syndrome,
not provided | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:78492734
- GRCh38:
- Chr13:77918599
| EDNRB | R82Q | not specified, not provided, Hirschsprung disease, susceptibility to, 2,
Waardenburg syndrome type 4A | Conflicting interpretations of pathogenicity
(Dec 8, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:78477491
- GRCh38:
- Chr13:77903356
| EDNRB, EDNRB-AS1 | R201*, R291* | not provided, Waardenburg syndrome type 4A | Pathogenic
(Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:78477335
- GRCh38:
- Chr13:77903200
| EDNRB, EDNRB-AS1 | R253*, R343* | not provided | Pathogenic/Likely pathogenic
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:78475230
- GRCh38:
- Chr13:77901095
| EDNRB, EDNRB-AS1 | S305N, S395N | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, not specified, not provided,
Hirschsprung disease, susceptibility to, 2, Waardenburg syndrome type 4A, Waardenburg syndrome type 2A
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:78477678
- GRCh38:
- Chr13:77903543
| EDNRB, EDNRB-AS1 | A183G, A273G | Waardenburg syndrome type 4A | Pathogenic
(Dec 1, 1995) | no assertion criteria provided |
| - GRCh37:
- Chr13:78475316
- GRCh38:
- Chr13:77901181
| EDNRB, EDNRB-AS1 | W276C, W366C | not provided, Waardenburg syndrome type 4A | Conflicting interpretations of pathogenicity
(Dec 22, 2022) | criteria provided, conflicting interpretations |