| - GRCh37:
- Chr11:65792962
- GRCh38:
- Chr11:66025491
| CATSPER1 | R297* | Spermatogenic failure 7 | Likely pathogenic
(Oct 30, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr11:65793308
- GRCh38:
- Chr11:66025837
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793162
- GRCh38:
- Chr11:66025691
| CATSPER1 | R230H | Spermatogenic failure 7, not provided | Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:65789091
- GRCh38:
- Chr11:66021620
| CATSPER1 | V523M | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65788986
- GRCh38:
- Chr11:66021515
| CATSPER1 | R558W | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793078
- GRCh38:
- Chr11:66025607
| CATSPER1 | R258H | Inborn genetic diseases, Spermatogenic failure 7 | Conflicting interpretations of pathogenicity
(Jan 31, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:65792961
- GRCh38:
- Chr11:66025490
| CATSPER1 | R297Q | Inborn genetic diseases, Spermatogenic failure 7 | Uncertain significance
(Aug 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65792906
- GRCh38:
- Chr11:66025435
| CATSPER1 | H315Q | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65788404
- GRCh38:
- Chr11:66020933
| CATSPER1 | R602Q | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65788076
- GRCh38:
- Chr11:66020605
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65784653
- GRCh38:
- Chr11:66017182
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65784603
- GRCh38:
- Chr11:66017132
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65784578
- GRCh38:
- Chr11:66017107
| CATSPER1 | R757C | Spermatogenic failure 7, Inborn genetic diseases | Uncertain significance
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65784298
- GRCh38:
- Chr11:66016827
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793986
- GRCh38:
- Chr11:66026515
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793858
- GRCh38:
- Chr11:66026387
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65792856
- GRCh38:
- Chr11:66025385
| CATSPER1 | R332Q | Spermatogenic failure 7, Inborn genetic diseases | Uncertain significance
(Jul 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65792774
- GRCh38:
- Chr11:66025303
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793722
- GRCh38:
- Chr11:66026251
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793706
- GRCh38:
- Chr11:66026235
| CATSPER1 | G49S | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793703
- GRCh38:
- Chr11:66026232
| CATSPER1 | V50M | not provided, Spermatogenic failure 7 | Conflicting interpretations of pathogenicity
(Aug 3, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:65793635
- GRCh38:
- Chr11:66026164
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793590
- GRCh38:
- Chr11:66026119
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793541
- GRCh38:
- Chr11:66026070
| CATSPER1 | A104T | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65790479
- GRCh38:
- Chr11:66023008
| CATSPER1 | W424R | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65789323
- GRCh38:
- Chr11:66021852
| CATSPER1 | I486K | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43892808
- GRCh38:
- Chr15:43600610
| STRC | | not provided, Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16,
Spermatogenic failure 7, Deafness-infertility syndrome | Benign/Likely benign
(Mar 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65792794
- GRCh38:
- Chr11:66025323
| CATSPER1 | V353I | Spermatogenic failure 7, not provided | Benign/Likely benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65789007
- GRCh38:
- Chr11:66021536
| CATSPER1 | | Spermatogenic failure 7, not provided | Benign/Likely benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65793620
- GRCh38:
- Chr11:66026149
| CATSPER1 | Q77H | not provided, Spermatogenic failure 7 | Likely benign
(Dec 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65792855
- GRCh38:
- Chr11:66025384
| CATSPER1 | | not provided, Spermatogenic failure 7 | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:65792991-65792992
- GRCh38:
- Chr11:66025520-66025521
| CATSPER1 | Q287fs | Spermatogenic failure 7 | Uncertain significance | no assertion criteria provided |
| - 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:
- Chr11:65793942
- GRCh38:
- Chr11:66026471
| CATSPER1 | | not provided, Spermatogenic failure 7 | Benign
(Nov 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65793797
- GRCh38:
- Chr11:66026326
| CATSPER1 | | not provided, Spermatogenic failure 7 | Benign
(Nov 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65793796
- GRCh38:
- Chr11:66026325
| CATSPER1 | A19T | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793707
- GRCh38:
- Chr11:66026236
| CATSPER1 | | not provided, Spermatogenic failure 7 | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:65793559
- GRCh38:
- Chr11:66026088
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793518
- GRCh38:
- Chr11:66026047
| CATSPER1 | | not provided, Spermatogenic failure 7 | Conflicting interpretations of pathogenicity
(Jul 3, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:65793454
- GRCh38:
- Chr11:66025983
| CATSPER1 | G133S | not provided, Spermatogenic failure 7 | Benign
(Nov 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65793449
- GRCh38:
- Chr11:66025978
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793347
- GRCh38:
- Chr11:66025876
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793163
- GRCh38:
- Chr11:66025692
| CATSPER1 | R230C | not provided, Spermatogenic failure 7 | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:65793156
- GRCh38:
- Chr11:66025685
| CATSPER1 | H232L | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793121
- GRCh38:
- Chr11:66025650
| CATSPER1 | G244R | not provided, Spermatogenic failure 7 | Benign
(Nov 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65793090
- GRCh38:
- Chr11:66025619
| CATSPER1 | G254V | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65793038
- GRCh38:
- Chr11:66025567
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65792968
- GRCh38:
- Chr11:66025497
| CATSPER1 | R295W | not provided, Spermatogenic failure 7 | Benign/Likely benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65792904
- GRCh38:
- Chr11:66025433
| CATSPER1 | G316D | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65792881
- GRCh38:
- Chr11:66025410
| CATSPER1 | Q324E | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65792806
- GRCh38:
- Chr11:66025335
| CATSPER1 | F349V | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65792782
- GRCh38:
- Chr11:66025311
| CATSPER1 | R357W | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65792656
- GRCh38:
- Chr11:66025185
| CATSPER1 | G399R | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65790527
- GRCh38:
- Chr11:66023056
| CATSPER1 | | not provided, Spermatogenic failure 7 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65790365
- GRCh38:
- Chr11:66022894
| CATSPER1 | V462I | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65789336
- GRCh38:
- Chr11:66021865
| CATSPER1 | A482T | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65789335
- GRCh38:
- Chr11:66021864
| CATSPER1 | A482G | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65789313
- GRCh38:
- Chr11:66021842
| CATSPER1 | | not provided, Spermatogenic failure 7 | Benign/Likely benign
(Jun 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65789266
- GRCh38:
- Chr11:66021795
| CATSPER1 | S505L | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65789238
- GRCh38:
- Chr11:66021767
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65789125
- GRCh38:
- Chr11:66021654
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65789124
- GRCh38:
- Chr11:66021653
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65789120
- GRCh38:
- Chr11:66021649
| CATSPER1 | | not provided, Spermatogenic failure 7 | Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:65788600
- GRCh38:
- Chr11:66021129
| CATSPER1 | I583S | Spermatogenic failure 7, Inborn genetic diseases | Uncertain significance
(Mar 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65788325
- GRCh38:
- Chr11:66020854
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65788072
- GRCh38:
- Chr11:66020601
| CATSPER1 | V652I | Spermatogenic failure 7, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65787782
- GRCh38:
- Chr11:66020311
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65787666
- GRCh38:
- Chr11:66020195
| CATSPER1 | | Spermatogenic failure 7, not provided | Benign
(Nov 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:65787627
- GRCh38:
- Chr11:66020156
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65786386
- GRCh38:
- Chr11:66018915
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65784338
- GRCh38:
- Chr11:66016867
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:65784265
- GRCh38:
- Chr11:66016794
| CATSPER1 | | Spermatogenic failure 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43903377
- GRCh38:
- Chr15:43611179
| STRC | C1092Y | STRC-related condition, Autosomal recessive nonsyndromic hearing loss 16, Deafness-infertility syndrome,
Spermatogenic failure 7, not specified, not provided,
Autosomal recessive nonsyndromic hearing loss 16 | Uncertain significance
(Aug 24, 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:
- Chr11:65792902-65792903
- GRCh38:
- Chr11:66025431-66025432
| CATSPER1 | D317fs | Spermatogenic failure 7 | Pathogenic
(Apr 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr11:65793311-65793312
- GRCh38:
- Chr11:66025840-66025841
| CATSPER1 | H182fs | Spermatogenic failure 7 | Pathogenic
(Apr 1, 2009) | no assertion criteria provided |