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Items: 25

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr13:78472381-78472399
GRCh38:
Chr13:77898246-77898264
EDNRB, EDNRB-AS1K422fs, K512fsWaardenburg syndrome type 4AUncertain significance
(Mar 22, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr13:78477289
GRCh38:
Chr13:77903154
EDNRB, EDNRB-AS1Waardenburg syndrome type 4ALikely pathogenic
(Aug 1, 2020)
criteria provided, single submitter
3.
GRCh37:
Chr13:78477290
GRCh38:
Chr13:77903155
EDNRB, EDNRB-AS1Waardenburg syndrome type 4ALikely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr13:78472452
GRCh38:
Chr13:77898317
EDNRB, EDNRB-AS1W404*, 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
5.
GRCh37:
Chr13:78493733
GRCh38:
Chr13:77919598
EDNRB, LOC107882129C6*Waardenburg syndrome type 4A, Waardenburg syndromeConflicting interpretations of pathogenicity
(Aug 24, 2022)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr13:78474085
GRCh38:
Chr13:77899950
EDNRB-AS1, EDNRBD368V, D458VWaardenburg syndrome type 4AUncertain significancecriteria provided, single submitter
7.
GRCh37:
Chr13:78477315
GRCh38:
Chr13:77903180
EDNRB, EDNRB-AS1V260fs, V350fsWaardenburg syndrome type 4ALikely pathogeniccriteria provided, single submitter
8.
GRCh37:
Chr22:38369574-38369588
GRCh38:
Chr22:37973567-37973581
POLR2F, SOX10Waardenburg syndrome type 4APathogenic
(Mar 7, 2018)
no assertion criteria provided
9.
GRCh37:
Chr13:78477673
GRCh38:
Chr13:77903538
EDNRB, EDNRB-AS1V185M, V275Mnot 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
10.
GRCh37:
Chr22:38374143
GRCh38:
Chr22:37978136
POLR2F, SOX10Waardenburg syndrome type 4APathogenic
(Oct 24, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr13:78477314
GRCh38:
Chr13:77903179
EDNRB, EDNRB-AS1V260F, V350Fnot providedBenign/Likely benign
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr13:78477301
GRCh38:
Chr13:77903166
EDNRB, EDNRB-AS1A264V, A354VWaardenburg syndrome type 4AUncertain significance
(Apr 12, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr13:78474768
GRCh38:
Chr13:77900633
EDNRB-AS1, EDNRBV325I, V415Inot provided, Waardenburg syndrome type 4AUncertain significance
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr13:78477676
GRCh38:
Chr13:77903541
EDNRB-AS1, EDNRBS184P, S274PWaardenburg syndrome type 4ALikely pathogenic
(Nov 1, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr13:78477705
GRCh38:
Chr13:77903570
EDNRB-AS1, EDNRBC174fs, C264fsWaardenburg syndrome type 4APathogenic
(Nov 1, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr13:78492652
GRCh38:
Chr13:77918517
EDNRBC109*, C19*Waardenburg syndrome type 4APathogenic/Likely pathogenic
(Feb 26, 2019)
no assertion criteria provided
17.
GRCh37:
Chr13:78492306
GRCh38:
Chr13:77918171
EDNRBG135S, G225SWaardenburg syndrome type 4AUncertain significance
(May 15, 2018)
no assertion criteria provided
18.
GRCh37:
Chr13:78472379
GRCh38:
Chr13:77898244
EDNRB, EDNRB-AS1G429R, G519RHirschsprung 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
19.
GRCh37:
Chr13:78477674
GRCh38:
Chr13:77903539
EDNRB, EDNRB-AS1not 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
20.
GRCh37:
Chr13:78492734
GRCh38:
Chr13:77918599
EDNRBR82Qnot specified, not provided, Hirschsprung disease, susceptibility to, 2,
Waardenburg syndrome type 4A
Conflicting interpretations of pathogenicity
(Dec 8, 2020)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr13:78477491
GRCh38:
Chr13:77903356
EDNRB, EDNRB-AS1R201*, R291*not provided, Waardenburg syndrome type 4APathogenic
(Jul 8, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr13:78477335
GRCh38:
Chr13:77903200
EDNRB, EDNRB-AS1R253*, R343*not providedPathogenic/Likely pathogenic
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr13:78475230
GRCh38:
Chr13:77901095
EDNRB, EDNRB-AS1S305N, S395NMitochondrial 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
24.
GRCh37:
Chr13:78477678
GRCh38:
Chr13:77903543
EDNRB, EDNRB-AS1A183G, A273GWaardenburg syndrome type 4APathogenic
(Dec 1, 1995)
no assertion criteria provided
25.
GRCh37:
Chr13:78475316
GRCh38:
Chr13:77901181
EDNRB, EDNRB-AS1W276C, W366CWaardenburg syndrome type 4APathogenic
(Nov 1, 2016)
criteria provided, single submitter
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