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Links from MedGen

Items: 71

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:43908295
GRCh38:
Chr15:43616097
STRCL490PAutosomal recessive nonsyndromic hearing loss 16Likely pathogenic
(Feb 28, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr15:43905365
GRCh38:
Chr15:43613167
STRCR849*Autosomal recessive nonsyndromic hearing loss 16Pathogenic
(Feb 28, 2023)
criteria provided, single submitter
3.
GRCh38:
Chr15:43890333-43940887
FRMD5, STRCAutosomal recessive nonsyndromic hearing loss 16Pathogenic
(Nov 10, 2022)
criteria provided, single submitter
4.
GRCh38:
Chr15:43890333-43893072
FRMD5, STRCAutosomal recessive nonsyndromic hearing loss 16Pathogenic
(Nov 10, 2022)
criteria provided, single submitter
5.
GRCh38:
Chr15:43890333-43897714
FRMD5, STRCAutosomal recessive nonsyndromic hearing loss 16Pathogenic
(Nov 10, 2022)
criteria provided, single submitter
6.
STRCAutosomal recessive nonsyndromic hearing loss 16Likely pathogenic
(Nov 10, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr15:43910036
GRCh38:
Chr15:43617838
STRCQ195*Autosomal recessive nonsyndromic hearing loss 16Pathogenic
(May 22, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr15:43895475
GRCh38:
Chr15:43603277
STRCE1504fsAutosomal recessive nonsyndromic hearing loss 16Likely pathogenic
(Jul 10, 2020)
criteria provided, single submitter
9.
GRCh37:
Chr15:43897017
GRCh38:
Chr15:43604819
STRCE1320*Autosomal recessive nonsyndromic hearing loss 16Pathogenic
(Aug 15, 2019)
criteria provided, single submitter
10.
GRCh37:
Chr15:43893149
GRCh38:
Chr15:43600951
STRCV1589FAutosomal recessive nonsyndromic hearing loss 16Uncertain significance
(Jul 1, 2021)
no assertion criteria provided
11.
GRCh37:
Chr15:43903696-43910856
GRCh38:
Chr15:43611498-43618658
STRCAutosomal recessive nonsyndromic hearing loss 16Likely pathogenic
(Jul 1, 2021)
no assertion criteria provided
12.
GRCh37:
Chr15:43891870-43901474
GRCh38:
Chr15:43599672-43609276
STRCQ1186fsAutosomal recessive nonsyndromic hearing loss 16Likely pathogenic
(Jul 1, 2021)
no assertion criteria provided
13.
GRCh37:
Chr15:43851199-44038820
CATSPER2, CKMT1A, CKMT1B, PDIA3, PPIP5K1, STRCAutosomal recessive nonsyndromic hearing loss 16Pathogenic
(Sep 7, 2020)
criteria provided, single submitter
14.
GRCh37:
Chr15:43851199-43924279
CATSPER2, CKMT1B, PPIP5K1, STRCAutosomal recessive nonsyndromic hearing loss 16Pathogenic
(Feb 15, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr15:43851199-44038794
CKMT1A, CKMT1B, PDIA3, CATSPER2, PPIP5K1, STRCDeafness-infertility syndrome, Autosomal recessive nonsyndromic hearing loss 16Pathogenic/Likely pathogenic
(Nov 1, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr15:43910867-43910869
GRCh38:
Chr15:43618669-43618671
STRCL18delAutosomal recessive nonsyndromic hearing loss 16, not specified, not provided
Benign
(May 18, 2020)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr15:43892948-43895542
STRCAutosomal recessive nonsyndromic hearing loss 16not providedno assertion provided
18.
GRCh37:
Chr15:43896318
GRCh38:
Chr15:43604120
STRCnot provided, Autosomal recessive nonsyndromic hearing loss 16Pathogenic/Likely pathogenic
(Jan 15, 2020)
criteria provided, multiple submitters, no conflicts
19.
STRCAutosomal recessive nonsyndromic hearing loss 16Pathogenic
(Nov 24, 2019)
no assertion criteria provided
20.
GRCh37:
Chr15:43892808
GRCh38:
Chr15:43600610
STRCAutosomal recessive nonsyndromic hearing loss 16, Deafness-infertility syndrome, Spermatogenic failure 7,
Autosomal recessive nonsyndromic hearing loss 16, not provided
Benign/Likely benign
(Mar 28, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr15:43893593-43901532
GRCh38:
Chr15:43601395-43609334
STRCAutosomal recessive nonsyndromic hearing loss 16Pathogenic
(Jul 29, 2019)
criteria provided, single submitter
22.
GRCh37:
Chr15:43900267
GRCh38:
Chr15:43608069
STRCnot specified, Autosomal recessive nonsyndromic hearing loss 16Likely benign
(Feb 26, 2020)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr15:43900061
GRCh38:
Chr15:43607863
STRCP1265Lnot specified, Autosomal recessive nonsyndromic hearing loss 16Conflicting interpretations of pathogenicity
(Feb 28, 2023)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr15:43893731
GRCh38:
Chr15:43601533
STRCG1522*Autosomal recessive nonsyndromic hearing loss 16Likely pathogenic
(Feb 26, 2019)
no assertion criteria provided
25.
GRCh37:
Chr15:43890409-43939642
STRC, CATSPER2, CKMT1BAutosomal recessive nonsyndromic hearing loss 16Pathogenic
(Nov 1, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr15:43891364-43939659
STRC, CKMT1B, CATSPER2Autosomal recessive nonsyndromic hearing loss 16Pathogenic
(Nov 1, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr15:43895442
GRCh38:
Chr15:43603244
STRCQ1515*Autosomal recessive nonsyndromic hearing loss 16Likely pathogenic
(Dec 22, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr15:43893620
GRCh38:
Chr15:43601422
STRCQ1559*Autosomal recessive nonsyndromic hearing loss 16, not providedLikely pathogenic
(Sep 12, 2018)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr15:43896963
GRCh38:
Chr15:43604765
STRCR1338*not provided, Autosomal recessive nonsyndromic hearing loss 16Pathogenic/Likely pathogenic
(Feb 28, 2023)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr15:43902548
GRCh38:
Chr15:43610350
STRCR1154*not provided, Autosomal recessive nonsyndromic hearing loss 16Pathogenic/Likely pathogenic
(May 3, 2020)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr15:43886857-43992627
GRCh38:
Chr15:43594659-43700429
CATSPER2, CKMT1A, CKMT1B, STRCAutosomal recessive nonsyndromic hearing loss 16Pathogenic
(Aug 6, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr15:43892807-43939642
GRCh38:
Chr15:43600609-43647444
CATSPER2, STRCAutosomal recessive nonsyndromic hearing loss 16Pathogenic
(Mar 29, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr15:43908188
GRCh38:
Chr15:43615990
STRCR526CAutosomal recessive nonsyndromic hearing loss 16Uncertain significance
(Dec 11, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr15:43896351
GRCh38:
Chr15:43604153
STRCRare genetic deafness, Deafness-infertility syndrome, Autosomal recessive nonsyndromic hearing loss 16,
Spermatogenic failure 7, Autosomal recessive nonsyndromic hearing loss 16
Pathogenic/Likely pathogenic
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr15:43910240
GRCh38:
Chr15:43618042
STRCR127*Rare genetic deafnessPathogenic
(Sep 1, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr15:43892197
GRCh38:
Chr15:43599999
STRCW1734Rnot specified, Autosomal recessive nonsyndromic hearing loss 16, not provided
Benign/Likely benign
(Jan 25, 2019)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr15:43893077
GRCh38:
Chr15:43600879
STRCE1613*Autosomal recessive nonsyndromic hearing loss 16, not providedPathogenic
(Sep 7, 2020)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr15:43896948
GRCh38:
Chr15:43604750
STRCQ1343*Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16Pathogenic/Likely pathogenic
(Nov 21, 2019)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr15:43896840
GRCh38:
Chr15:43604642
STRCAutosomal recessive nonsyndromic hearing loss 16, not provided, not specified
Benign/Likely benign
(Feb 4, 2019)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr15:43910345
GRCh38:
Chr15:43618147
STRCR92Wnot provided, Autosomal recessive nonsyndromic hearing loss 16Uncertain significance
(Jun 7, 2019)
criteria provided, multiple submitters, no conflicts
41.
Autosomal dominant nonsyndromic hearing loss 16Pathogenic
(Feb 19, 2016)
no assertion criteria provided
42.
GRCh37:
Chr15:43892807
GRCh38:
Chr15:43600609
STRCL1640FAutosomal recessive nonsyndromic hearing loss 16, not providedConflicting interpretations of pathogenicity
(Feb 28, 2023)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr15:43892880
GRCh38:
Chr15:43600682
STRCAutosomal recessive nonsyndromic hearing loss 16, not specifiedLikely benign
(Jul 25, 2017)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr15:43896918
GRCh38:
Chr15:43604720
STRCQ1353*not provided, Autosomal recessive nonsyndromic hearing loss 16Pathogenic
(Nov 10, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr15:43903435
GRCh38:
Chr15:43611237
STRCR1073*Autosomal recessive nonsyndromic hearing loss 16, Rare genetic deafnessPathogenic
(Feb 28, 2023)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr15:43901476
GRCh38:
Chr15:43609278
STRCAutosomal recessive nonsyndromic hearing loss 16, not provided, not specified
Likely benign
(Jul 22, 2020)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr15:43901491
GRCh38:
Chr15:43609293
STRCAutosomal recessive nonsyndromic hearing loss 16, not specifiedBenign
(Jul 22, 2020)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr15:43903129
GRCh38:
Chr15:43610931
STRCnot specified, Autosomal recessive nonsyndromic hearing loss 16, not provided
Benign/Likely benign
(Oct 5, 2019)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr15:43896218
GRCh38:
Chr15:43604020
STRCR1451*Deafness-infertility syndrome, Autosomal recessive nonsyndromic hearing loss 16Pathogenic/Likely pathogenic
(Jul 30, 2020)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr15:43895583
GRCh38:
Chr15:43603385
STRCR1468*Rare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 16
Pathogenic
(Dec 6, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr15:43892893
GRCh38:
Chr15:43600695
STRCnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 16
Benign
(Jul 9, 2018)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr15:43892847
GRCh38:
Chr15:43600649
STRCnot specified, Autosomal recessive nonsyndromic hearing loss 16Benign
(May 9, 2017)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr15:43893072
GRCh38:
Chr15:43600874
STRCnot specified, Autosomal recessive nonsyndromic hearing loss 16Benign
(May 9, 2017)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr15:43910121
GRCh38:
Chr15:43617923
STRCnot specified, Autosomal recessive nonsyndromic hearing loss 16Benign/Likely benign
(May 19, 2017)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr15:43903434
GRCh38:
Chr15:43611236
STRCR1073Qnot provided, not specified, Autosomal recessive nonsyndromic hearing loss 16
Uncertain significance
(Feb 5, 2020)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr15:43903377
GRCh38:
Chr15:43611179
STRCC1092YDeafness-infertility syndrome, Autosomal recessive nonsyndromic hearing loss 16, Spermatogenic failure 7,
not specified, not provided, Autosomal recessive nonsyndromic hearing loss 16
Uncertain significance
(Sep 27, 2021)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr15:43903187
GRCh38:
Chr15:43610989
STRCnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 16
Uncertain significance
(Mar 16, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr15:43900289
GRCh38:
Chr15:43608091
STRCR1224*Rare genetic deafness, Deafness-infertility syndrome, Autosomal recessive nonsyndromic hearing loss 16,
Spermatogenic failure 7, not provided, Autosomal recessive nonsyndromic hearing loss 16
Pathogenic
(Mar 1, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr15:43900153
GRCh38:
Chr15:43607955
STRCnot specified, Autosomal recessive nonsyndromic hearing loss 16Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr15:43897499
GRCh38:
Chr15:43605301
STRCH1298Rnot specified, Autosomal recessive nonsyndromic hearing loss 16Benign
(May 9, 2017)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr15:43896606
GRCh38:
Chr15:43604408
STRCR1391GRare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 16
Likely pathogenic
(Jan 10, 2020)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr15:43895560
GRCh38:
Chr15:43603362
STRCW1475CRare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16Likely pathogenic
(Jun 4, 2018)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr15:43896940
GRCh38:
Chr15:43604742
STRCnot specified, not provided, Autosomal recessive nonsyndromic hearing loss 16
Benign
(Jul 9, 2018)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr15:43893593
GRCh38:
Chr15:43601395
STRCRare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16Pathogenic/Likely pathogenic
(Mar 21, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr15:43893114-43893118
GRCh38:
Chr15:43600916-43600920
STRCC1599fsRare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16Pathogenic
(Feb 28, 2023)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr15:43892807-43892808
GRCh38:
Chr15:43600609-43600610
STRCInborn genetic diseases, not specified, not provided,
Autosomal recessive nonsyndromic hearing loss 16
Conflicting interpretations of pathogenicity
(Dec 19, 2022)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr15:43892209
GRCh38:
Chr15:43600011
STRCR1730*Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16Pathogenic/Likely pathogenic
(Feb 28, 2023)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr15:43910440
GRCh38:
Chr15:43618242
STRCF60Snot specified, not provided, Autosomal recessive nonsyndromic hearing loss 16
Benign/Likely benign
(Dec 17, 2021)
criteria provided, multiple submitters, no conflicts
69.
GRCh38:
Chr15:43599438-43613711
STRCAutosomal recessive nonsyndromic hearing loss 16Pathogenic
(Nov 1, 2001)
no assertion criteria provided
70.
GRCh37:
Chr15:43906634-43906637
GRCh38:
Chr15:43614436-43614439
STRCV724fsAutosomal recessive nonsyndromic hearing loss 16Pathogenic
(Nov 10, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr15:43903495-43903496
GRCh38:
Chr15:43611297-43611298
STRCC1053fsAutosomal recessive nonsyndromic hearing loss 16Pathogenic
(Nov 1, 2001)
no assertion criteria provided
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