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Items: 1 to 100 of 404

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
2.
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
3.
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
4.
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
5.
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
6.
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
7.
OTOFAuditory neuropathy, autosomal recessive, 1Pathogenic
(Jan 1, 2003)
no assertion criteria provided
8.
OTOFDeafness, autosomal recessive 9Pathogenic
(Jun 1, 2000)
no assertion criteria provided
9.
GRCh37:
Chr2:26680208
GRCh38:
Chr2:26457340
OTOFNonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr2:26680208
GRCh38:
Chr2:26457340
OTOFNonsyndromic Hearing Loss, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr2:26680239
GRCh38:
Chr2:26457371
OTOFNonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr2:26680336
GRCh38:
Chr2:26457468
OTOFNonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr2:26680409
GRCh38:
Chr2:26457541
OTOFNonsyndromic Hearing Loss, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr2:26680410
GRCh38:
Chr2:26457542
OTOFNonsyndromic Hearing Loss, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr2:26680456
GRCh38:
Chr2:26457588
OTOFNonsyndromic Hearing Loss, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr2:26680666
GRCh38:
Chr2:26457798
OTOFNonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr2:26680734
GRCh38:
Chr2:26457866
OTOFNonsyndromic Hearing Loss, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr2:26680765
GRCh38:
Chr2:26457897
OTOFNonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr2:26680942
GRCh38:
Chr2:26458074
OTOFAuditory neuropathy, autosomal recessive, 1Pathogenic
(Jan 1, 2003)
no assertion criteria provided
20.
GRCh37:
Chr2:26680977
GRCh38:
Chr2:26458109
OTOFNonsyndromic hearing loss and deafnessLikely pathogenic
(Dec 1, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr2:26680980
GRCh38:
Chr2:26458112
OTOFnot specified, Nonsyndromic Hearing Loss, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr2:26681001
GRCh38:
Chr2:26458133
OTOFnot specified, Nonsyndromic Hearing Loss, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr2:26682878-26682880
GRCh38:
Chr2:26460010-26460012
OTOFnot specifiednot provided
(Mar 25, 2015)
no assertion provided
24.
GRCh37:
Chr2:26682895
GRCh38:
Chr2:26460027
OTOFDeafness, autosomal recessive 9Pathogenic
(Jul 1, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr2:26682927
GRCh38:
Chr2:26460059
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
26.
GRCh37:
Chr2:26682949
GRCh38:
Chr2:26460081
OTOFDeafness, autosomal recessive 9Uncertain significance
(Feb 23, 2016)
no assertion criteria provided
27.
GRCh37:
Chr2:26682962
GRCh38:
Chr2:26460094
OTOFNonsyndromic hearing loss and deafnessLikely pathogenic
(Mar 1, 2008)
no assertion criteria provided
28.
GRCh37:
Chr2:26682965
GRCh38:
Chr2:26460097
OTOFnot specifiedLikely benign
(Mar 1, 2008)
criteria provided, single submitter
29.
GRCh37:
Chr2:26683019
GRCh38:
Chr2:26460151
OTOFnot specifiedLikely benign
(Jan 30, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr2:26683061
GRCh38:
Chr2:26460193
OTOFnot specifiedLikely benign
(Mar 1, 2008)
criteria provided, single submitter
31.
GRCh37:
Chr2:26683070
GRCh38:
Chr2:26460202
OTOFnot specifiedLikely benign
(Sep 25, 2011)
criteria provided, single submitter
32.
GRCh37:
Chr2:26683071
GRCh38:
Chr2:26460203
OTOFDeafness, autosomal recessive 9, Auditory neuropathy, autosomal recessive, 1Conflicting interpretations of pathogenicity
(Jul 1, 2017)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr2:26683072
GRCh38:
Chr2:26460204
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
34.
GRCh37:
Chr2:26683500
GRCh38:
Chr2:26460632
OTOFnot specifiedLikely benign
(May 29, 2012)
criteria provided, single submitter
35.
GRCh37:
Chr2:26683528
GRCh38:
Chr2:26460660
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
36.
GRCh37:
Chr2:26683586
GRCh38:
Chr2:26460718
OTOFnot specified, Nonsyndromic Hearing Loss, RecessiveConflicting interpretations of pathogenicity
(Sep 12, 2016)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr2:26683617
GRCh38:
Chr2:26460749
OTOFNonsyndromic hearing loss and deafnessLikely pathogenic
(Oct 5, 2009)
criteria provided, single submitter
38.
GRCh37:
Chr2:26683714
GRCh38:
Chr2:26460846
OTOFnot specifiedLikely benign
(Nov 29, 2012)
criteria provided, single submitter
39.
GRCh37:
Chr2:26683719
GRCh38:
Chr2:26460851
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
40.
GRCh37:
Chr2:26683737
GRCh38:
Chr2:26460869
OTOFnot specifiedUncertain significance
(Apr 13, 2011)
criteria provided, single submitter
41.
GRCh37:
Chr2:26683769
GRCh38:
Chr2:26460901
OTOFDeafness, autosomal recessive 9Benign
(Apr 26, 2011)
no assertion criteria provided
42.
GRCh37:
Chr2:26683777
GRCh38:
Chr2:26460909
OTOFDeafness, autosomal recessive 9, not specifiedBenign
(Apr 26, 2011)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:26683782
GRCh38:
Chr2:26460914
OTOFNonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr2:26683800
GRCh38:
Chr2:26460932
OTOFnot specifiedUncertain significance
(Jan 3, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr2:26683809
GRCh38:
Chr2:26460941
OTOFNonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr2:26683822
GRCh38:
Chr2:26460954
OTOFnot specifiedLikely benign
(Mar 26, 2012)
criteria provided, single submitter
47.
GRCh37:
Chr2:26683856-26683857
GRCh38:
Chr2:26460988-26460989
OTOFNonsyndromic hearing loss and deafnessLikely pathogenic
(Sep 3, 2009)
no assertion criteria provided
48.
GRCh37:
Chr2:26683865
GRCh38:
Chr2:26460997
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
49.
GRCh37:
Chr2:26683866
GRCh38:
Chr2:26460998
OTOFnot specifiedUncertain significance
(Nov 14, 2011)
criteria provided, single submitter
50.
GRCh37:
Chr2:26683874
GRCh38:
Chr2:26461006
OTOFnot specifiedBenign
(Feb 24, 2011)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr2:26684618
GRCh38:
Chr2:26461750
OTOFnot specifiedUncertain significance
(Feb 2, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr2:26684620
GRCh38:
Chr2:26461752
OTOFNonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr2:26684624
GRCh38:
Chr2:26461756
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
54.
GRCh37:
Chr2:26684631
GRCh38:
Chr2:26461763
OTOFDeafness, autosomal recessive 9Pathogenic
(Jul 1, 2017)
criteria provided, single submitter
55.
GRCh37:
Chr2:26684637
GRCh38:
Chr2:26461769
OTOFNonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr2:26684657
GRCh38:
Chr2:26461789
OTOFNonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr2:26684679
GRCh38:
Chr2:26461811
OTOFnot specifiedBenign
(Mar 1, 2011)
criteria provided, single submitter
58.
GRCh37:
Chr2:26684685-26684687
GRCh38:
Chr2:26461817-26461819
OTOFDeafness, autosomal recessive 9, Nonsyndromic hearing loss and deafnessLikely pathogenic, association
(Jul 30, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr2:26684703
GRCh38:
Chr2:26461835
OTOFnot specifiedLikely benign
(Dec 29, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr2:26684706
GRCh38:
Chr2:26461838
OTOFDeafness, autosomal recessive 9, not specifiedBenign
(Apr 26, 2011)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr2:26684713
GRCh38:
Chr2:26461845
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
62.
GRCh37:
Chr2:26684722
GRCh38:
Chr2:26461854
OTOFNonsyndromic hearing loss and deafness, not providedLikely pathogenic
(Jun 19, 2014)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr2:26684723
GRCh38:
Chr2:26461855
OTOFnot specifiedUncertain significance
(Aug 1, 2013)
criteria provided, single submitter
64.
GRCh37:
Chr2:26684765
GRCh38:
Chr2:26461897
OTOFNonsyndromic hearing loss and deafnessLikely pathogenic
(Oct 29, 2015)
criteria provided, single submitter
65.
GRCh37:
Chr2:26684766
GRCh38:
Chr2:26461898
OTOFnot specifiedLikely benigncriteria provided, single submitter
66.
GRCh37:
Chr2:26684814
GRCh38:
Chr2:26461946
OTOFnot specifiedUncertain significance
(May 2, 2017)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr2:26684988
GRCh38:
Chr2:26462120
OTOFnot specifiedUncertain significance
(Mar 30, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr2:26685039
GRCh38:
Chr2:26462171
OTOFNonsyndromic hearing loss and deafnessPathogenic
(Jun 10, 2014)
criteria provided, single submitter
69.
GRCh37:
Chr2:26685045
GRCh38:
Chr2:26462177
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
70.
GRCh37:
Chr2:26685050
Chr2:26690232
GRCh38:
Chr2:26462182
Chr2:26467364
OTOFDeafness, autosomal recessive 9Pathogenic
(Feb 16, 2016)
no assertion criteria provided
71.
GRCh37:
Chr2:26685050
GRCh38:
Chr2:26462182
OTOFNonsyndromic hearing loss and deafnessLikely pathogenic
(Mar 1, 2008)
criteria provided, single submitter
72.
GRCh37:
Chr2:26685058
GRCh38:
Chr2:26462190
OTOFNonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr2:26686384
GRCh38:
Chr2:26463516
OTOFnot specifiedLikely benign
(Feb 4, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr2:26686825
GRCh38:
Chr2:26463957
OTOFnot specifiedLikely benign
(Jan 16, 2012)
criteria provided, single submitter
75.
GRCh37:
Chr2:26686837
Chr2:26693554-26693556
GRCh38:
Chr2:26463969
Chr2:26470686-26470688
OTOFDeafness, autosomal recessive 9Likely pathogenic
(Apr 16, 2013)
criteria provided, single submitter
76.
GRCh37:
Chr2:26686837
GRCh38:
Chr2:26463969
OTOFDeafness, autosomal recessive 9, Nonsyndromic hearing loss and deafness, not provided
Pathogenic/Likely pathogenic
(May 13, 2016)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:26686838
GRCh38:
Chr2:26463970
OTOFNonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr2:26686838
GRCh38:
Chr2:26463970
OTOFnot specifiedBenign
(Apr 27, 2011)
criteria provided, single submitter
79.
GRCh37:
Chr2:26686844
GRCh38:
Chr2:26463976
OTOFnot specifiedLikely benign
(Mar 8, 2011)
criteria provided, single submitter
80.
GRCh37:
Chr2:26686872
GRCh38:
Chr2:26464004
OTOFnot specifiedLikely benign
(Jul 26, 2016)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr2:26686896
GRCh38:
Chr2:26464028
OTOFnot specifiedBenign
(May 7, 2012)
criteria provided, single submitter
82.
GRCh37:
Chr2:26686897
GRCh38:
Chr2:26464029
OTOFnot specifiedUncertain significance
(Oct 10, 2011)
criteria provided, single submitter
83.
GRCh37:
Chr2:26686909
GRCh38:
Chr2:26464041
OTOFnot specifiedBenign
(Aug 11, 2014)
criteria provided, single submitter
84.
GRCh37:
Chr2:26686924
GRCh38:
Chr2:26464056
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
85.
GRCh37:
Chr2:26686939
GRCh38:
Chr2:26464071
OTOFnot specifiedLikely benign
(Sep 7, 2013)
criteria provided, single submitter
86.
GRCh37:
Chr2:26686940
GRCh38:
Chr2:26464072
OTOFnot specifiedLikely benign
(Mar 1, 2008)
criteria provided, single submitter
87.
GRCh37:
Chr2:26687736
GRCh38:
Chr2:26464868
OTOFDeafness, autosomal recessive 9, Auditory neuropathy, autosomal recessive, 1Pathogenic
(Apr 26, 2011)
no assertion criteria provided
88.
GRCh37:
Chr2:26687746
GRCh38:
Chr2:26464878
OTOFnot specifiedUncertain significance
(Nov 13, 2013)
criteria provided, single submitter
89.
GRCh37:
Chr2:26687761
GRCh38:
Chr2:26464893
OTOFDeafness, autosomal recessive 9, not specified, Nonsyndromic Hearing Loss, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr2:26687775
GRCh38:
Chr2:26464907
OTOFnot specifiedUncertain significance
(Sep 19, 2016)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr2:26687819
GRCh38:
Chr2:26464951
OTOFnot specifiedLikely benign
(Jul 26, 2010)
criteria provided, single submitter
92.
GRCh37:
Chr2:26687824
GRCh38:
Chr2:26464956
OTOFDeafness, autosomal recessive 9Benign
(Apr 26, 2011)
no assertion criteria provided
93.
GRCh37:
Chr2:26687828
GRCh38:
Chr2:26464960
OTOFnot specifiedBenign
(May 14, 2012)
criteria provided, single submitter
94.
GRCh37:
Chr2:26687875
GRCh38:
Chr2:26465007
OTOFnot specifiedUncertain significance
(May 26, 2009)
criteria provided, single submitter
95.
GRCh37:
Chr2:26687877
GRCh38:
Chr2:26465009
OTOFnot specifiedUncertain significance
(Dec 10, 2014)
criteria provided, single submitter
96.
GRCh37:
Chr2:26687878
GRCh38:
Chr2:26465010
OTOFDeafness, autosomal recessive 9association
(Jul 30, 2015)
no assertion criteria provided
97.
GRCh37:
Chr2:26687888
GRCh38:
Chr2:26465020
OTOFDeafness, autosomal recessive 9Pathogenic
(Apr 26, 2011)
no assertion criteria provided
98.
GRCh37:
Chr2:26687908
GRCh38:
Chr2:26465040
OTOFnot specified, Nonsyndromic Hearing Loss, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr2:26688524
GRCh38:
Chr2:26465656
OTOFnot specifiedBenigncriteria provided, single submitter
100.
GRCh37:
Chr2:26688539
GRCh38:
Chr2:26465671
OTOFNonsyndromic hearing loss and deafnessPathogenic
(Jan 30, 2014)
criteria provided, single submitter
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