S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 82

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
STRCDeafness, autosomal dominant 16Pathogenic
(Feb 19, 2016)
no assertion criteria provided
2.
GRCh37:
Chr15:43892209
GRCh38:
Chr15:43600011
STRCNon-syndromic genetic deafnessPathogenic
(Oct 17, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr15:43892218
GRCh38:
Chr15:43600020
STRCnot specifiedGMAF:0.00040(G)Likely benign
(Nov 24, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr15:43892806
GRCh38:
Chr15:43600608
STRCnot specifiedUncertain significance
(Oct 6, 2013)
criteria provided, single submitter
5.
GRCh37:
Chr15:43892807-43892808
GRCh38:
Chr15:43600609-43600610
STRCDeafness, autosomal recessive 16, not specifiedUncertain significance
(Jun 16, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr15:43892822
GRCh38:
Chr15:43600624
STRCnot specifiedLikely benign
(Jun 16, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr15:43892847
GRCh38:
Chr15:43600649
STRCnot specifiedGMAF:0.29450(C)Benign
(Sep 28, 2013)
criteria provided, single submitter
8.
GRCh37:
Chr15:43892862
GRCh38:
Chr15:43600664
STRCnot specifiedGMAF:0.00920(C)Benign
(Oct 11, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr15:43892893
GRCh38:
Chr15:43600695
STRCnot specifiedGMAF:0.29410(G)Benign
(May 7, 2012)
criteria provided, single submitter
10.
GRCh37:
Chr15:43893055
GRCh38:
Chr15:43600857
STRCnot specifiedLikely benign
(Jun 10, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr15:43893072
GRCh38:
Chr15:43600874
STRCnot specifiedGMAF:0.39580(A)Benign
(Jun 26, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr15:43893114-43893118
GRCh38:
Chr15:43600916-43600920
STRCNon-syndromic genetic deafnessPathogenic
(Mar 15, 2014)
criteria provided, single submitter
13.
GRCh37:
Chr15:43893215
GRCh38:
Chr15:43601017
STRCnot specifiedGMAF:0.00120(-)Likely benign
(Jun 19, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr15:43893593
GRCh38:
Chr15:43601395
STRCDeafness, autosomal recessive 16, Non-syndromic genetic deafnessGMAF:0.00040(T)Pathogenic/Likely pathogenic
(Nov 23, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr15:43893732
GRCh38:
Chr15:43601534
STRCnot specifiedLikely benign
(Dec 22, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr15:43893733
GRCh38:
Chr15:43601535
STRCnot specifiedGMAF:0.01820(T)Benign
(May 7, 2012)
criteria provided, single submitter
17.
GRCh37:
Chr15:43893734
GRCh38:
Chr15:43601536
STRCnot specifiedGMAF:0.00240(A)Benign
(May 3, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr15:43893762
GRCh38:
Chr15:43601564
STRCnot specifiedGMAF:0.00020(G)Likely benign
(Jun 5, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr15:43893818-43939642
GRCh38:
Chr15:43601620-43647444
CATSPER2, STRCPreeclampsia, Normal pregnancynot providedno assertion provided
20.
GRCh37:
Chr15:43895560
GRCh38:
Chr15:43603362
STRCNon-syndromic genetic deafnessLikely pathogenic
(May 17, 2015)
criteria provided, single submitter
21.
GRCh37:
Chr15:43895583
GRCh38:
Chr15:43603385
STRCNon-syndromic genetic deafnessPathogenic
(Jun 25, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr15:43895586
GRCh38:
Chr15:43603388
STRCnot specifiedGMAF:0.00020(T)Likely benign
(Apr 17, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr15:43896218
GRCh38:
Chr15:43604020
STRCDeafness, autosomal recessive 16Likely pathogenic
(Aug 21, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr15:43896271
GRCh38:
Chr15:43604073
STRCnot specifiedUncertain significance
(May 14, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr15:43896309
GRCh38:
Chr15:43604111
STRCnot specifiedGMAF:0.00020(T)Likely benign
(Apr 21, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr15:43896582
GRCh38:
Chr15:43604384
STRCNon-syndromic genetic deafnessPathogenic
(Nov 6, 2013)
criteria provided, single submitter
27.
GRCh37:
Chr15:43896606
Chr15:43896918
GRCh38:
Chr15:43604408
Chr15:43604720
STRCDeafness, autosomal dominant 16GMAF:0.00020(A)Pathogenic
(Feb 19, 2016)
no assertion criteria provided
28.
GRCh37:
Chr15:43896606
GRCh38:
Chr15:43604408
STRCDeafness, autosomal dominant 16, Non-syndromic genetic deafnessGMAF:0.00020(A)Pathogenic/Likely pathogenic
(Feb 19, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr15:43896620
GRCh38:
Chr15:43604422
STRCnot specifiedGMAF:0.00180(G)Likely benign
(Mar 4, 2015)
criteria provided, single submitter
30.
GRCh37:
Chr15:43896940
GRCh38:
Chr15:43604742
STRCnot specifiedGMAF:0.02840(G)Benign
(Apr 30, 2012)
criteria provided, single submitter
31.
GRCh37:
Chr15:43897499
GRCh38:
Chr15:43605301
STRCnot specifiedGMAF:0.29090(C)Benign
(May 7, 2012)
criteria provided, single submitter
32.
GRCh37:
Chr15:43897575
GRCh38:
Chr15:43605377
STRCnot specifiedGMAF:0.00040(G)Uncertain significance
(Jun 19, 2014)
criteria provided, single submitter
33.
GRCh37:
Chr15:43900153
GRCh38:
Chr15:43607955
STRCnot specifiedGMAF:0.12840(T)Benign
(May 7, 2012)
criteria provided, single submitter
34.
GRCh37:
Chr15:43900289
GRCh38:
Chr15:43608091
STRCNon-syndromic genetic deafnessPathogenic
(Nov 17, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr15:43901476
GRCh38:
Chr15:43609278
STRCnot specifiedLikely benign
(Jul 30, 2015)
criteria provided, single submitter
36.
GRCh37:
Chr15:43901491
GRCh38:
Chr15:43609293
STRCnot specifiedLikely benign
(Jul 30, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr15:43902515
GRCh38:
Chr15:43610317
STRCNon-syndromic genetic deafnessPathogenic
(Jun 16, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr15:43902524
GRCh38:
Chr15:43610326
STRCNon-syndromic genetic deafnessPathogenic
(Apr 11, 2014)
criteria provided, single submitter
39.
GRCh37:
Chr15:43902604
GRCh38:
Chr15:43610406
STRCnot specifiedUncertain significance
(Feb 18, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr15:43903129
GRCh38:
Chr15:43610931
STRCnot specifiedBenign
(Jun 26, 2013)
criteria provided, single submitter
41.
GRCh37:
Chr15:43903187
GRCh38:
Chr15:43610989
STRCnot specifiedUncertain significance
(Nov 19, 2013)
criteria provided, single submitter
42.
GRCh37:
Chr15:43903198
GRCh38:
Chr15:43611000
STRCnot specifiedBenign
(Dec 17, 2013)
criteria provided, single submitter
43.
GRCh37:
Chr15:43903377
GRCh38:
Chr15:43611179
STRCnot specifiedUncertain significance
(Nov 25, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr15:43903434
GRCh38:
Chr15:43611236
STRCnot specifiedUncertain significance
(Nov 25, 2015)
criteria provided, single submitter
45.
GRCh37:
Chr15:43903435
GRCh38:
Chr15:43611237
STRCNon-syndromic genetic deafnessPathogenic
(Nov 12, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr15:43903496
GRCh38:
Chr15:43611298
STRCDeafness, autosomal recessive 16Pathogenic
(Nov 1, 2001)
no assertion criteria provided
47.
GRCh37:
Chr15:43903745
GRCh38:
Chr15:43611547
STRCnot specifiedLikely benign
(Aug 7, 2014)
criteria provided, single submitter
48.
GRCh37:
Chr15:43904577
GRCh38:
Chr15:43612379
STRCnot specifiedUncertain significance
(Nov 17, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr15:43905416
GRCh38:
Chr15:43613218
STRCnot specifiedUncertain significance
(Apr 28, 2015)
criteria provided, single submitter
50.
GRCh37:
Chr15:43906634-43906637
GRCh38:
Chr15:43614436-43614439
STRCDeafness, autosomal recessive 16Pathogenic
(Nov 1, 2001)
no assertion criteria provided
51.
GRCh37:
Chr15:43907748
GRCh38:
Chr15:43615550
STRCnot specifiedLikely benign
(Jan 28, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr15:43908151
GRCh38:
Chr15:43615953
STRCnot specifiedUncertain significance
(Sep 17, 2015)
criteria provided, single submitter
53.
GRCh37:
Chr15:43908678
GRCh38:
Chr15:43616480
STRCNon-syndromic genetic deafnessPathogenic
(Nov 19, 2015)
criteria provided, single submitter
54.
GRCh37:
Chr15:43908853
GRCh38:
Chr15:43616655
STRCnot specifiedUncertain significance
(Feb 20, 2014)
criteria provided, single submitter
55.
GRCh37:
Chr15:43908874
GRCh38:
Chr15:43616676
STRCnot specifiedUncertain significance
(Jun 1, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr15:43908884
GRCh38:
Chr15:43616686
STRCnot specifiedBenign
(Oct 5, 2013)
criteria provided, single submitter
57.
GRCh37:
Chr15:43908887
GRCh38:
Chr15:43616689
STRCnot specifiedUncertain significance
(Aug 11, 2015)
criteria provided, single submitter
58.
GRCh37:
Chr15:43909925
GRCh38:
Chr15:43617727
STRCnot specifiedLikely benign
(Dec 1, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr15:43909941
GRCh38:
Chr15:43617743
STRCnot specifiedLikely benign
(Apr 28, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr15:43910121
GRCh38:
Chr15:43617923
STRCnot specifiedBenign
(Apr 30, 2012)
criteria provided, single submitter
61.
GRCh37:
Chr15:43910183
GRCh38:
Chr15:43617985
STRCnot specifiedUncertain significance
(May 5, 2015)
criteria provided, single submitter
62.
GRCh37:
Chr15:43910286
GRCh38:
Chr15:43618088
STRCnot specifiedBenign
(Jun 26, 2013)
criteria provided, single submitter
63.
GRCh37:
Chr15:43910440
GRCh38:
Chr15:43618242
STRCDeafness, autosomal recessive 16, not specifiedGMAF:0.43610(G)Benign
(Aug 23, 2013)
criteria provided, single submitter
64.
GRCh37:
Chr15:43892732-43893212
GRCh38:
Chr15:43600534-43601014
STRCnot specifiedUncertain significance
(Feb 24, 2015)
criteria provided, single submitter
65.
GRCh37:
Chr15:43891870-43897597
GRCh38:
Chr15:43599672-43605399
STRCnot specifiedUncertain significance
(May 22, 2015)
criteria provided, single submitter
66.
GRCh37:
Chr15:43892732-43901532
GRCh38:
Chr15:43600534-43609334
STRCnot specifiedUncertain significance
(Jun 10, 2015)
criteria provided, single submitter
67.
GRCh37:
Chr15:43900061-43901532
GRCh38:
Chr15:43607863-43609334
STRCnot specifiedUncertain significance
(Apr 22, 2015)
criteria provided, single submitter
68.
GRCh37:
Chr15:43893070-43903182
GRCh38:
Chr15:43600872-43610984
STRCnot specifiedUncertain significance
(Jun 16, 2015)
criteria provided, single submitter
69.
GRCh37:
Chr15:43901446-43901512
GRCh38:
Chr15:43609248-43609314
STRCnot specifiedUncertain significance
(Jan 26, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr15:43892948-43895542
GRCh38:
Chr15:43600750-43603344
STRCNon-syndromic genetic deafnessPathogenic
(Jun 25, 2015)
criteria provided, single submitter
71.
GRCh37:
Chr15:43901443-43901592
GRCh38:
Chr15:43609245-43609394
STRCNon-syndromic genetic deafnessPathogenic
(Mar 3, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr15:43892948-43895799
GRCh38:
Chr15:43600750-43603601
STRCNon-syndromic genetic deafnessPathogenic
(Nov 28, 2014)
criteria provided, single submitter
73.
GRCh37:
Chr15:43892732-43897597
GRCh38:
Chr15:43600534-43605399
STRCNon-syndromic genetic deafnessPathogenic
(Nov 10, 2014)
criteria provided, single submitter
74.
GRCh37:
Chr15:43892732-43893212
GRCh38:
Chr15:43600534-43601014
STRCNon-syndromic genetic deafnessPathogenic
(Mar 4, 2014)
criteria provided, single submitter
75.
GRCh37:
Chr15:43891870-43910920
GRCh38:
Chr15:43599672-43618722
STRCNon-syndromic genetic deafnessPathogenic
(Jul 14, 2015)
criteria provided, single submitter
76.
GRCh37:
Chr15:43851548-43951301
GRCh38:
Chr15:43559350-43659103
CKMT1B, PPIP5K1, CATSPER2, STRCSee casesBenign
(Feb 4, 2013)
no assertion criteria provided
77.
GRCh37:
Chr15:43888952-43951317
GRCh38:
Chr15:43596754-43659119
CKMT1B, CATSPER2, STRCSee casesLikely benign
(Sep 21, 2012)
no assertion criteria provided
78.
GRCh37:
Chr15:42858959-44139304
GRCh38:
Chr15:42566761-43847106
See casesLikely pathogenic
(Nov 4, 2011)
no assertion criteria provided
79.
GRCh37:
Chr15:43888927-43951301
GRCh38:
Chr15:43596729-43659103
CKMT1B, CATSPER2, STRCSee casesPathogenic
(Dec 16, 2011)
no assertion criteria provided
80.
GRCh37:
Chr15:43851548-43948346
GRCh38:
Chr15:43559350-43656148
CKMT1B, PPIP5K1, CATSPER2, STRCSee casesBenign
(Sep 16, 2011)
no assertion criteria provided
81.
GRCh37:
Chr15:43888927-43938847
GRCh38:
Chr15:43596729-43646649
CKMT1B, CATSPER2, STRCSee casesBenign
(Oct 14, 2010)
no assertion criteria provided
82.
GRCh38:
Chr15:43599438-43613711
STRCDeafness, autosomal recessive 16Pathogenic
(Nov 1, 2001)
no assertion criteria provided
Format
Items per page
Sort by

Download:

Choose Destination
Support Center