U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 78

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:76928989
GRCh38:
Chr14:76462646
ESRRBG167R, G188RAutosomal recessive nonsyndromic hearing loss 35Pathogenicno assertion criteria provided
2.
GRCh37:
Chr14:76966252
GRCh38:
Chr14:76499909
ESRRBS448*Autosomal recessive nonsyndromic hearing loss 35Likely pathogenic
(Jun 3, 2020)
criteria provided, single submitter
3.
GRCh37:
Chr14:76968148
GRCh38:
Chr14:76501805
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr14:76968139
GRCh38:
Chr14:76501796
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr14:76968021
GRCh38:
Chr14:76501678
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr14:76966199
GRCh38:
Chr14:76499856
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr14:76964672
GRCh38:
Chr14:76498329
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Mar 2, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr14:76958058
GRCh38:
Chr14:76491715
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr14:76967660
GRCh38:
Chr14:76501317
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr14:76967566
GRCh38:
Chr14:76501223
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr14:76967552
GRCh38:
Chr14:76501209
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr14:76967522
GRCh38:
Chr14:76501179
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr14:76967503
GRCh38:
Chr14:76501160
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr14:76967174
GRCh38:
Chr14:76500831
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr14:76905925
GRCh38:
Chr14:76439582
ESRRBE77K, E98KAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr14:76905893
GRCh38:
Chr14:76439550
ESRRBG66E, G87EAutosomal recessive nonsyndromic hearing loss 35, Inborn genetic diseasesUncertain significance
(Apr 28, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr14:76905859
GRCh38:
Chr14:76439516
ESRRBG55S, G76SAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr14:76966357
GRCh38:
Chr14:76500014
ESRRBL483Pnot provided, Autosomal recessive nonsyndromic hearing loss 35Conflicting interpretations of pathogenicity
(May 28, 2021)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr14:76966320
GRCh38:
Chr14:76499977
ESRRBG471RAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr14:76870799
GRCh38:
Chr14:76404456
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Mar 2, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr14:76870762
GRCh38:
Chr14:76404419
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr14:76966303
GRCh38:
Chr14:76499960
ESRRBD465VAutosomal recessive nonsyndromic hearing loss 35, not providedUncertain significance
(Sep 1, 2019)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr14:76948364
GRCh38:
Chr14:76482021
ESRRBR174C, R195CAutosomal recessive nonsyndromic hearing loss 35Likely pathogenic
(Oct 19, 2020)
criteria provided, single submitter
24.
GRCh37:
Chr14:76949048
GRCh38:
Chr14:76482705
ESRRBD245H, D266HAutosomal recessive nonsyndromic hearing loss 35Uncertain significancecriteria provided, single submitter
25.
GRCh37:
Chr14:76949102
GRCh38:
Chr14:76482759
ESRRBG263S, G284SAutosomal recessive nonsyndromic hearing loss 35Pathogenic
(Jun 4, 2016)
no assertion criteria provided
26.
GRCh37:
Chr14:76948389
GRCh38:
Chr14:76482046
ESRRBR182H, R203HAutosomal recessive nonsyndromic hearing loss 35Pathogenic
(Jun 4, 2016)
no assertion criteria provided
27.
GRCh37:
Chr14:76968173
GRCh38:
Chr14:76501830
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr14:76968132
GRCh38:
Chr14:76501789
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr14:76967819
GRCh38:
Chr14:76501476
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr14:76967754
GRCh38:
Chr14:76501411
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr14:76967746
GRCh38:
Chr14:76501403
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr14:76967727
GRCh38:
Chr14:76501384
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr14:76967713
GRCh38:
Chr14:76501370
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr14:76967707
GRCh38:
Chr14:76501364
ESRRBAutosomal recessive nonsyndromic hearing loss 35Benign
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr14:76967668
GRCh38:
Chr14:76501325
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr14:76967440
GRCh38:
Chr14:76501097
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr14:76967375
GRCh38:
Chr14:76501032
ESRRBnot provided, Autosomal recessive nonsyndromic hearing loss 35Benign
(Dec 10, 2018)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr14:76967305
GRCh38:
Chr14:76500962
ESRRBnot provided, Autosomal recessive nonsyndromic hearing loss 35Benign
(Nov 29, 2018)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr14:76967183
GRCh38:
Chr14:76500840
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr14:76967135
GRCh38:
Chr14:76500792
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr14:76967088
GRCh38:
Chr14:76500745
ESRRBnot provided, Autosomal recessive nonsyndromic hearing loss 35Conflicting interpretations of pathogenicity
(Jan 25, 2019)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr14:76966328
GRCh38:
Chr14:76499985
ESRRBnot provided, Autosomal recessive nonsyndromic hearing loss 35Conflicting interpretations of pathogenicity
(Feb 5, 2022)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr14:76948440
GRCh38:
Chr14:76482097
ESRRBL199S, L220Snot specified, Autosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr14:76948355
GRCh38:
Chr14:76482012
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr14:76929019
GRCh38:
Chr14:76462676
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr14:76928907
GRCh38:
Chr14:76462564
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr14:76905935
GRCh38:
Chr14:76439592
ESRRBA80V, A101Vnot specified, Autosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr14:76905823
GRCh38:
Chr14:76439480
ESRRBG43S, G64Snot provided, Autosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr14:76905810
GRCh38:
Chr14:76439467
ESRRBnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Conflicting interpretations of pathogenicity
(Jul 6, 2022)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr14:76870757
GRCh38:
Chr14:76404414
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr14:76837870
GRCh38:
Chr14:76371527
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr14:76837850
GRCh38:
Chr14:76371507
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr14:76837825
GRCh38:
Chr14:76371482
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr14:76837769
GRCh38:
Chr14:76371426
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr14:76837761
GRCh38:
Chr14:76371418
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr14:76837737
GRCh38:
Chr14:76371394
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr14:76837692
GRCh38:
Chr14:76371349
ESRRBAutosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr14:76957891
GRCh38:
Chr14:76491548
ESRRBD297N, D318Nnot provided, Autosomal recessive nonsyndromic hearing loss 35, not specified
Conflicting interpretations of pathogenicity
(Jun 4, 2022)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr14:76964643
GRCh38:
Chr14:76498300
ESRRBR382C, R403Cnot provided, Autosomal recessive nonsyndromic hearing loss 35Conflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr14:76966405
GRCh38:
Chr14:76500062
ESRRBG499Dnot provided, Autosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jun 29, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr14:76948931
GRCh38:
Chr14:76482588
ESRRBnot specified, Autosomal recessive nonsyndromic hearing loss 35Uncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr14:76964612
GRCh38:
Chr14:76498269
ESRRBnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Conflicting interpretations of pathogenicity
(Apr 4, 2022)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr14:76905839
GRCh38:
Chr14:76439496
ESRRBA48V, A69Vnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Conflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr14:76966347
GRCh38:
Chr14:76500004
ESRRBP480Snot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Conflicting interpretations of pathogenicity
(Feb 1, 2023)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr14:76966318
GRCh38:
Chr14:76499975
ESRRBP470Lnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Conflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr14:76958067
GRCh38:
Chr14:76491724
ESRRBnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Conflicting interpretations of pathogenicity
(Oct 14, 2022)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr14:76949017
GRCh38:
Chr14:76482674
ESRRBnot provided, not specified, Autosomal recessive nonsyndromic hearing loss 35
Conflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr14:76905712
GRCh38:
Chr14:76439369
ESRRBR6G, R27Gnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr14:76957887
GRCh38:
Chr14:76491544
ESRRBnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr14:76905777
GRCh38:
Chr14:76439434
ESRRBnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr14:76966336
GRCh38:
Chr14:76499993
ESRRBR476Hnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Conflicting interpretations of pathogenicity
(Jul 19, 2022)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr14:76905837
GRCh38:
Chr14:76439494
ESRRBnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Benign/Likely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr14:76966275
GRCh38:
Chr14:76499932
ESRRBF456Lnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Conflicting interpretations of pathogenicity
(Oct 14, 2022)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr14:76964736
GRCh38:
Chr14:76498393
ESRRBV413I, V434Inot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Benign/Likely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr14:76964655
GRCh38:
Chr14:76498312
ESRRBP386S, P407Snot specified, not provided, Autosomal recessive nonsyndromic hearing loss 35
Benign/Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr14:76958026
GRCh38:
Chr14:76491683
ESRRBV342L, V363LAutosomal recessive nonsyndromic hearing loss 35Pathogenic
(Jan 1, 2008)
no assertion criteria provided
77.
GRCh37:
Chr14:76906025
GRCh38:
Chr14:76439682
ESRRBA110V, A131VAutosomal recessive nonsyndromic hearing loss 35Pathogenic
(Jan 1, 2008)
no assertion criteria provided
78.
GRCh37:
Chr14:76958018-76958019
GRCh38:
Chr14:76491675-76491676
ESRRBV342fs, V363fsAutosomal recessive nonsyndromic hearing loss 35Pathogenic
(Jan 1, 2008)
no assertion criteria provided
Format
Items per page
Sort by
Choose Destination