| - GRCh37:
- Chr15:43908295
- GRCh38:
- Chr15:43616097
| STRC | L490P | Autosomal recessive nonsyndromic hearing loss 16 | Likely pathogenic
(Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43905365
- GRCh38:
- Chr15:43613167
| STRC | R849* | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Feb 28, 2023) | criteria provided, single submitter |
| - GRCh38:
- Chr15:43890333-43940887
| FRMD5, STRC | | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Nov 10, 2022) | criteria provided, single submitter |
| - GRCh38:
- Chr15:43890333-43893072
| FRMD5, STRC | | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Nov 10, 2022) | criteria provided, single submitter |
| - GRCh38:
- Chr15:43890333-43897714
| FRMD5, STRC | | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Nov 10, 2022) | criteria provided, single submitter |
| | STRC | | Autosomal recessive nonsyndromic hearing loss 16 | Likely pathogenic
(Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43910036
- GRCh38:
- Chr15:43617838
| STRC | Q195* | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43895475
- GRCh38:
- Chr15:43603277
| STRC | E1504fs | Autosomal recessive nonsyndromic hearing loss 16 | Likely pathogenic
(Jul 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43897017
- GRCh38:
- Chr15:43604819
| STRC | E1320* | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Aug 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43893149
- GRCh38:
- Chr15:43600951
| STRC | V1589F | Autosomal recessive nonsyndromic hearing loss 16 | Uncertain significance
(Jul 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr15:43903696-43910856
- GRCh38:
- Chr15:43611498-43618658
| STRC | | Autosomal recessive nonsyndromic hearing loss 16 | Likely pathogenic
(Jul 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr15:43891870-43901474
- GRCh38:
- Chr15:43599672-43609276
| STRC | Q1186fs | Autosomal recessive nonsyndromic hearing loss 16 | Likely pathogenic
(Jul 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr15:43851199-44038820
| CATSPER2, CKMT1A, CKMT1B, PDIA3, PPIP5K1, STRC | | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Sep 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43851199-43924279
| CATSPER2, CKMT1B, PPIP5K1, STRC | | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Feb 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43851199-44038794
| CKMT1A, CKMT1B, PDIA3, CATSPER2, PPIP5K1, STRC | | Deafness-infertility syndrome, Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic/Likely pathogenic
(Nov 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43910867-43910869
- GRCh38:
- Chr15:43618669-43618671
| STRC | L18del | Autosomal recessive nonsyndromic hearing loss 16, not specified, not provided
| Benign
(May 18, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43892948-43895542
| STRC | | Autosomal recessive nonsyndromic hearing loss 16 | not provided | no assertion provided |
| - GRCh37:
- Chr15:43896318
- GRCh38:
- Chr15:43604120
| STRC | | not provided, Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic/Likely pathogenic
(Jan 15, 2020) | criteria provided, multiple submitters, no conflicts |
| | STRC | | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Nov 24, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr15:43892808
- GRCh38:
- Chr15:43600610
| STRC | | not provided, Spermatogenic failure 7, Autosomal recessive nonsyndromic hearing loss 16,
Deafness-infertility syndrome, Autosomal recessive nonsyndromic hearing loss 16 | Benign/Likely benign
(Mar 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43893593-43901532
- GRCh38:
- Chr15:43601395-43609334
| STRC | | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Jul 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43900267
- GRCh38:
- Chr15:43608069
| STRC | | not specified, Autosomal recessive nonsyndromic hearing loss 16 | Likely benign
(Feb 26, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43900061
- GRCh38:
- Chr15:43607863
| STRC | P1265L | not specified, Autosomal recessive nonsyndromic hearing loss 16 | Conflicting interpretations of pathogenicity
(Feb 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:43893731
- GRCh38:
- Chr15:43601533
| STRC | G1522* | Autosomal recessive nonsyndromic hearing loss 16 | Likely pathogenic
(Feb 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr15:43890409-43939642
| STRC, CATSPER2, CKMT1B | | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43891364-43939659
| STRC, CKMT1B, CATSPER2 | | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43895442
- GRCh38:
- Chr15:43603244
| STRC | Q1515* | Autosomal recessive nonsyndromic hearing loss 16 | Likely pathogenic
(Dec 22, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43893620
- GRCh38:
- Chr15:43601422
| STRC | Q1559* | Autosomal recessive nonsyndromic hearing loss 16, not provided | Likely pathogenic
(Sep 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43896963
- GRCh38:
- Chr15:43604765
| STRC | R1338* | not provided, Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic/Likely pathogenic
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43902548
- GRCh38:
- Chr15:43610350
| STRC | R1154* | not provided, Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic/Likely pathogenic
(May 3, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43886857-43992627
- GRCh38:
- Chr15:43594659-43700429
| CATSPER2, CKMT1A, CKMT1B, STRC | | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Aug 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43892807-43939642
- GRCh38:
- Chr15:43600609-43647444
| CATSPER2, STRC | | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Mar 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43908188
- GRCh38:
- Chr15:43615990
| STRC | R526C | Autosomal recessive nonsyndromic hearing loss 16 | Uncertain significance
(Dec 11, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43896351
- GRCh38:
- Chr15:43604153
| STRC | | Autosomal recessive nonsyndromic hearing loss 16, Rare genetic deafness, Deafness-infertility syndrome,
Autosomal recessive nonsyndromic hearing loss 16, Spermatogenic failure 7 | Pathogenic/Likely pathogenic
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43910240
- GRCh38:
- Chr15:43618042
| STRC | R127* | Rare genetic deafness | Pathogenic
(Sep 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43892197
- GRCh38:
- Chr15:43599999
| STRC | W1734R | not provided, Autosomal recessive nonsyndromic hearing loss 16, not specified
| Benign/Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43893077
- GRCh38:
- Chr15:43600879
| STRC | E1613* | Autosomal recessive nonsyndromic hearing loss 16, not provided | Pathogenic
(Sep 7, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43896948
- GRCh38:
- Chr15:43604750
| STRC | Q1343* | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic/Likely pathogenic
(Nov 21, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43896840
- GRCh38:
- Chr15:43604642
| STRC | | Autosomal recessive nonsyndromic hearing loss 16, not provided, not specified
| Benign/Likely benign
(Feb 4, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43910345
- GRCh38:
- Chr15:43618147
| STRC | R92W | not provided, Autosomal recessive nonsyndromic hearing loss 16 | Uncertain significance
(Jun 7, 2019) | criteria provided, multiple submitters, no conflicts |
| | | | Autosomal dominant nonsyndromic hearing loss 16 | Pathogenic
(Feb 19, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr15:43892807
- GRCh38:
- Chr15:43600609
| STRC | L1640F | Autosomal recessive nonsyndromic hearing loss 16, not provided | Conflicting interpretations of pathogenicity
(Feb 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:43892880
- GRCh38:
- Chr15:43600682
| STRC | | Autosomal recessive nonsyndromic hearing loss 16, not specified | Likely benign
(Jul 25, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43896918
- GRCh38:
- Chr15:43604720
| STRC | Q1353* | not provided, Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Nov 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43903435
- GRCh38:
- Chr15:43611237
| STRC | R1073* | Autosomal recessive nonsyndromic hearing loss 16, Rare genetic deafness | Pathogenic
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43901476
- GRCh38:
- Chr15:43609278
| STRC | | Autosomal recessive nonsyndromic hearing loss 16, not provided, not specified
| Likely benign
(Jul 22, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43901491
- GRCh38:
- Chr15:43609293
| STRC | | Autosomal recessive nonsyndromic hearing loss 16, not specified | Benign
(Jul 22, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43903129
- GRCh38:
- Chr15:43610931
| STRC | | not specified, Autosomal recessive nonsyndromic hearing loss 16, not provided
| Benign/Likely benign
(Oct 5, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43896218
- GRCh38:
- Chr15:43604020
| STRC | R1451* | Deafness-infertility syndrome, Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic/Likely pathogenic
(Jul 30, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43895583
- GRCh38:
- Chr15:43603385
| STRC | R1468* | Rare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 16
| Pathogenic
(Dec 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43892893
- GRCh38:
- Chr15:43600695
| STRC | | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 16
| Benign
(Jul 9, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43892847
- GRCh38:
- Chr15:43600649
| STRC | | not specified, Autosomal recessive nonsyndromic hearing loss 16 | Benign
(May 9, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43893072
- GRCh38:
- Chr15:43600874
| STRC | | not specified, Autosomal recessive nonsyndromic hearing loss 16 | Benign
(May 9, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43910121
- GRCh38:
- Chr15:43617923
| STRC | | not specified, Autosomal recessive nonsyndromic hearing loss 16 | Benign/Likely benign
(May 19, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43903434
- GRCh38:
- Chr15:43611236
| STRC | R1073Q | not provided, not specified, Autosomal recessive nonsyndromic hearing loss 16
| Uncertain significance
(Feb 5, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43903377
- GRCh38:
- Chr15:43611179
| STRC | C1092Y | Deafness-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 |
| - GRCh37:
- Chr15:43903187
- GRCh38:
- Chr15:43610989
| STRC | | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 16
| Uncertain significance
(Mar 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43900289
- GRCh38:
- Chr15:43608091
| STRC | R1224* | 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 |
| - GRCh37:
- Chr15:43900153
- GRCh38:
- Chr15:43607955
| STRC | | not specified, Autosomal recessive nonsyndromic hearing loss 16 | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43897499
- GRCh38:
- Chr15:43605301
| STRC | H1298R | not specified, Autosomal recessive nonsyndromic hearing loss 16 | Benign
(May 9, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43896606
- GRCh38:
- Chr15:43604408
| STRC | R1391G | not provided, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16
| Likely pathogenic
(Jan 10, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43895560
- GRCh38:
- Chr15:43603362
| STRC | W1475C | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16 | Likely pathogenic
(Jun 4, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43896940
- GRCh38:
- Chr15:43604742
| STRC | | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 16
| Benign
(Jul 9, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43893593
- GRCh38:
- Chr15:43601395
| STRC | | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic/Likely pathogenic
(Mar 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43893114-43893118
- GRCh38:
- Chr15:43600916-43600920
| STRC | C1599fs | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43892807-43892808
- GRCh38:
- Chr15:43600609-43600610
| STRC | | Inborn genetic diseases, not specified, not provided,
Autosomal recessive nonsyndromic hearing loss 16 | Conflicting interpretations of pathogenicity
(Aug 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:43892209
- GRCh38:
- Chr15:43600011
| STRC | R1730* | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic/Likely pathogenic
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43910440
- GRCh38:
- Chr15:43618242
| STRC | F60S | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 16
| Benign/Likely benign
(Dec 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh38:
- Chr15:43599438-43613711
| STRC | | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Nov 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr15:43906634-43906637
- GRCh38:
- Chr15:43614436-43614439
| STRC | V724fs | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43903495-43903496
- GRCh38:
- Chr15:43611297-43611298
| STRC | C1053fs | Autosomal recessive nonsyndromic hearing loss 16 | Pathogenic
(Nov 1, 2001) | no assertion criteria provided |