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Links from MedGen

Items: 97

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:110104048
GRCh38:
Chr11:110233323
RDXS154P, S365P, S501PAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jul 15, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr11:110104203
GRCh38:
Chr11:110233478
RDXA102fs, A313fs, A449fsAutosomal recessive nonsyndromic hearing loss 24Pathogenic
(Aug 14, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr11:110128868-110128869
GRCh38:
Chr11:110258143-110258144
RDXR171fs, R35fsAutosomal recessive nonsyndromic hearing loss 24Likely pathogenic
(Aug 1, 2020)
criteria provided, single submitter
4.
GRCh37:
Chr11:110108333
GRCh38:
Chr11:110237608
RDXR243*, R32*, R379*Autosomal recessive nonsyndromic hearing loss 24Likely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr11:110108327
GRCh38:
Chr11:110237602
RDXR245*, R34*, R381*Autosomal recessive nonsyndromic hearing loss 24Likely pathogenic
(Feb 18, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr11:110103924
GRCh38:
Chr11:110233199
RDXnot provided, Autosomal recessive nonsyndromic hearing loss 24Benign
(Nov 7, 2021)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr11:110135567
GRCh38:
Chr11:110264842
RDXW43*Autosomal recessive nonsyndromic hearing loss 24Pathogenic
(Sep 10, 2019)
criteria provided, single submitter
8.
GRCh37:
Chr11:110150058-110151696
GRCh38:
Chr11:110279333-110280971
RDXAutosomal recessive nonsyndromic hearing loss 24Likely pathogenic
(Sep 10, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr11:110108360
GRCh38:
Chr11:110237635
RDXR23*, R234*, R370*Autosomal recessive nonsyndromic hearing loss 24Pathogenic
(Oct 26, 2020)
criteria provided, single submitter
10.
GRCh37:
Chr11:110128478
GRCh38:
Chr11:110257753
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr11:110101393
GRCh38:
Chr11:110230668
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr11:110101379
GRCh38:
Chr11:110230654
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr11:110101330
GRCh38:
Chr11:110230605
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr11:110108203
GRCh38:
Chr11:110237478
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr11:110104054
GRCh38:
Chr11:110233329
RDXE499Q, E363Q, E152QAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr11:110104002
GRCh38:
Chr11:110233277
RDXT169I, T380I, T516IAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr11:110101236
GRCh38:
Chr11:110230511
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr11:110101219
GRCh38:
Chr11:110230494
RDXAutosomal recessive nonsyndromic hearing loss 24Likely benign
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr11:110101211
GRCh38:
Chr11:110230486
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr11:110101058
GRCh38:
Chr11:110230333
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr11:110100962
GRCh38:
Chr11:110230237
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Apr 20, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr11:110100696
GRCh38:
Chr11:110229971
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr11:110167418
GRCh38:
Chr11:110296693
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr11:110167412
GRCh38:
Chr11:110296687
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr11:110167399
GRCh38:
Chr11:110296674
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr11:110167397
GRCh38:
Chr11:110296672
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr11:110167367
GRCh38:
Chr11:110296642
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr11:110167260
GRCh38:
Chr11:110296535
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr11:110103972
GRCh38:
Chr11:110233247
RDXK390R, K526R, K179RAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr11:110102292
GRCh38:
Chr11:110231567
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Apr 20, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr11:110102180
GRCh38:
Chr11:110231455
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr11:110102120
GRCh38:
Chr11:110231395
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr11:110100524
GRCh38:
Chr11:110229799
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Mar 23, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr11:110100509
GRCh38:
Chr11:110229784
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr11:110100482
GRCh38:
Chr11:110229757
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr11:110100341
GRCh38:
Chr11:110229616
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr11:110167218
GRCh38:
Chr11:110296493
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr11:110150412
GRCh38:
Chr11:110279687
RDXAutosomal recessive nonsyndromic hearing loss 24, not providedConflicting interpretations of pathogenicity
(Mar 4, 2022)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr11:110134851
GRCh38:
Chr11:110264126
RDXL69F, L101FAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Feb 2, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr11:110101854
GRCh38:
Chr11:110231129
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr11:110101832
GRCh38:
Chr11:110231107
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr11:110101739
GRCh38:
Chr11:110231014
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr11:110101451
GRCh38:
Chr11:110230726
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr11:110128829
GRCh38:
Chr11:110258104
RDXAutosomal recessive nonsyndromic hearing loss 24Pathogeniccriteria provided, single submitter
45.
GRCh37:
Chr11:110128617
GRCh38:
Chr11:110257892
RDXY191*, Y55*Autosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Dec 25, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr11:110124720
GRCh38:
Chr11:110253995
RDXQ304*, Q168*Autosomal recessive nonsyndromic hearing loss 24, not providedConflicting interpretations of pathogenicity
(Oct 27, 2021)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr11:110104211
GRCh38:
Chr11:110233486
RDXnot provided, Autosomal recessive nonsyndromic hearing loss 24Conflicting interpretations of pathogenicity
(Mar 17, 2021)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr11:110167436
GRCh38:
Chr11:110296711
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr11:110167432
GRCh38:
Chr11:110296707
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr11:110167424
GRCh38:
Chr11:110296699
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr11:110167417
GRCh38:
Chr11:110296692
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr11:110167348
GRCh38:
Chr11:110296623
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr11:110167306
GRCh38:
Chr11:110296581
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr11:110167296
GRCh38:
Chr11:110296571
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr11:110167276
GRCh38:
Chr11:110296551
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr11:110167232
GRCh38:
Chr11:110296507
RDXAutosomal recessive nonsyndromic hearing loss 24Likely benign
(Jan 13, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr11:110167203
GRCh38:
Chr11:110296478
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr11:110167180
GRCh38:
Chr11:110296455
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr11:110150487
GRCh38:
Chr11:110279762
RDXNonsyndromic Hearing Loss, Recessive, not provided, Autosomal recessive nonsyndromic hearing loss 24
Benign/Likely benign
(Nov 7, 2021)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr11:110128875
GRCh38:
Chr11:110258150
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr11:110128588
GRCh38:
Chr11:110257863
RDXY201C, Y65CAutosomal recessive nonsyndromic hearing loss 24, not providedUncertain significance
(Aug 4, 2020)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr11:110124794
GRCh38:
Chr11:110254069
RDXR279L, R143LAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr11:110118469
GRCh38:
Chr11:110247744
RDXR350H, R214H, R3HAutosomal recessive nonsyndromic hearing loss 24, not providedUncertain significance
(Jun 2, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr11:110108306
GRCh38:
Chr11:110237581
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr11:110108280
GRCh38:
Chr11:110237555
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr11:110108273
GRCh38:
Chr11:110237548
RDXA399T, A263T, A52TAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr11:110104138
GRCh38:
Chr11:110233413
RDXP471A, P335A, P124AAutosomal recessive nonsyndromic hearing loss 24, not providedUncertain significance
(Aug 4, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr11:110104045
GRCh38:
Chr11:110233320
RDXN502D, N366D, N155DAutosomal recessive nonsyndromic hearing loss 24, Inborn genetic diseasesUncertain significance
(Apr 13, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr11:110104019
GRCh38:
Chr11:110233294
RDXAutosomal recessive nonsyndromic hearing loss 24, not providedConflicting interpretations of pathogenicity
(Nov 10, 2021)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr11:110102515
GRCh38:
Chr11:110231790
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr11:110102438
GRCh38:
Chr11:110231713
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Sep 22, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:110102165
GRCh38:
Chr11:110231440
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr11:110102131
GRCh38:
Chr11:110231406
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr11:110101794
GRCh38:
Chr11:110231069
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr11:110101709
GRCh38:
Chr11:110230984
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr11:110101536
GRCh38:
Chr11:110230811
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr11:110101511
GRCh38:
Chr11:110230786
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr11:110101421
GRCh38:
Chr11:110230696
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr11:110101343
GRCh38:
Chr11:110230618
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr11:110101310
GRCh38:
Chr11:110230585
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr11:110101304
GRCh38:
Chr11:110230579
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr11:110101281
GRCh38:
Chr11:110230556
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr11:110101226
GRCh38:
Chr11:110230501
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr11:110101015
GRCh38:
Chr11:110230290
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr11:110100639
GRCh38:
Chr11:110229914
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr11:110100633
GRCh38:
Chr11:110229908
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr11:110100588
GRCh38:
Chr11:110229863
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr11:110100537
GRCh38:
Chr11:110229812
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr11:110100171
GRCh38:
Chr11:110229446
RDXAutosomal recessive nonsyndromic hearing loss 24Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr11:110128911
GRCh38:
Chr11:110258186
RDXnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 24
Likely benign
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr11:110134798
GRCh38:
Chr11:110264073
RDXnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 24
Conflicting interpretations of pathogenicity
(Oct 9, 2022)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr11:110104062
GRCh38:
Chr11:110233337
RDXA496V, A360V, A149Vnot provided, not specified, Autosomal recessive nonsyndromic hearing loss 24
Conflicting interpretations of pathogenicity
(Oct 5, 2022)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr11:110118459
GRCh38:
Chr11:110247734
RDXnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 24
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr11:110128491
GRCh38:
Chr11:110257766
RDXAutosomal recessive nonsyndromic hearing loss 24Pathogenic
(Mar 1, 2009)
no assertion criteria provided
95.
GRCh37:
Chr11:110134689
GRCh38:
Chr11:110263964
RDXQ155*, Q123*Autosomal recessive nonsyndromic hearing loss 24Pathogenic
(May 1, 2007)
no assertion criteria provided
96.
GRCh37:
Chr11:110104143-110104144
GRCh38:
Chr11:110233418-110233419
RDXA333fs, A122fs, A469fsAutosomal recessive nonsyndromic hearing loss 24Pathogenic
(May 1, 2007)
no assertion criteria provided
97.
GRCh37:
Chr11:110102614
GRCh38:
Chr11:110231889
RDXD578N, D231N, D174N, D442NAutosomal recessive nonsyndromic hearing loss 24Pathogenic
(May 1, 2007)
no assertion criteria provided
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