| - GRCh37:
- Chr9:127265660
- GRCh38:
- Chr9:124503381
| NR5A1 | Y5* | 46,XY sex reversal 3 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr9:127265614
- GRCh38:
- Chr9:124503335
| NR5A1 | S21A | 46,XY sex reversal 3 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr9:127253389-127253392
- GRCh38:
- Chr9:124491110-124491113
| NR5A1 | V369fs | 46,XY disorder of sex development, Oligosynaptic infertility, 46,XY sex reversal 3
| Pathogenic
(Feb 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:127265438
- GRCh38:
- Chr9:124503159
| NR5A1 | C55fs | 46,XY sex reversal 3 | Pathogenic
(May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127262623
- GRCh38:
- Chr9:124500344
| NR5A1 | Q206K | 46,XY sex reversal 3 | Uncertain significance
(Apr 5, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr9:127265438
- GRCh38:
- Chr9:124503159
| NR5A1 | C55Y | 46,XY sex reversal 3 | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127255316
- GRCh38:
- Chr9:124493037
| NR5A1 | G328V | 46,XY sex reversal 3 | Pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127253425
- GRCh38:
- Chr9:124491146
| NR5A1 | L358P | 46,XY sex reversal 3 | Likely pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127253408
- GRCh38:
- Chr9:124491129
| NR5A1 | D364Y | 46,XY sex reversal 3 | Likely pathogenic
(Oct 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127265631
- GRCh38:
- Chr9:124503352
| NR5A1 | V15A | 46,XY sex reversal 3 | Likely pathogenic
(Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127262980
- GRCh38:
- Chr9:124500701
| NR5A1 | R87C | 46,XY sex reversal 3 | Pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127262518
- GRCh38:
- Chr9:124500239
| NR5A1 | R241W | 46,XY sex reversal 3 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127265664
- GRCh38:
- Chr9:124503385
| NR5A1 | S4* | 46,XY sex reversal 3 | Pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127265586
- GRCh38:
- Chr9:124503307
| NR5A1 | C30Y | 46,XY sex reversal 3 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127262955
- GRCh38:
- Chr9:124500676
| NR5A1 | F95S | 46,XY sex reversal 3 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127253450
- GRCh38:
- Chr9:124491171
| NR5A1 | R350W | 46,XY sex reversal 3 | Pathogenic
(Feb 18, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr9:127265578
- GRCh38:
- Chr9:124503299
| NR5A1 | C33R | 46,XY sex reversal 3 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr9:127265656
- GRCh38:
- Chr9:124503377
| NR5A1 | E7* | 46,XY sex reversal 3 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr9:127265462
- GRCh38:
- Chr9:124503183
| NR5A1 | Y47C | 46,XY sex reversal 3 | Likely pathogenic
(Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127262989
- GRCh38:
- Chr9:124500710
| NR5A1 | R84C | 46,XY sex reversal 3 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr9:127253355
- GRCh38:
- Chr9:124491076
| NR5A1 | | Oligosynaptic infertility, 46,XY disorder of sex development, 46,XY sex reversal 3
| Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:127243637-127267690
| NR5A1 | | 46,XY sex reversal 3, Oligosynaptic infertility | Pathogenic
(Oct 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:106814126-106814128
- GRCh38:
- Chr8:105801898-105801900
| ZFPM2-AS1, ZFPM2 | L475del, L554del, L607del | 46,XY sex reversal 3 | Benign
(Aug 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr8:106814080
- GRCh38:
- Chr8:105801852
| ZFPM2-AS1, ZFPM2 | K458N, K537N, K590N | 46,XY sex reversal 3 | Benign
(Aug 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr8:106813313
- GRCh38:
- Chr8:105801085
| ZFPM2, ZFPM2-AS1 | L203V, L282V, L335V | 46,XY sex reversal 9 | Benign
(Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:106813565
- GRCh38:
- Chr8:105801337
| ZFPM2, ZFPM2-AS1 | E287K, E366K, E419K | 46,XY sex reversal 3 | Benign
(Aug 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr8:106813922
- GRCh38:
- Chr8:105801694
| ZFPM2, ZFPM2-AS1 | V406I, V485I, V538I | 46,XY sex reversal 9, not provided | Likely benign
(Sep 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:11606495
- GRCh38:
- Chr8:11748986
| GATA4 | W228C, W229C, W22C | 46,XY sex reversal 3 | Pathogenic
(Aug 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:127262703-127262784
- GRCh38:
- Chr9:124500424-124500505
| NR5A1 | L152fs | 46,XY sex reversal 3 | Likely pathogenic
(Jan 29, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr9:127255309
- GRCh38:
- Chr9:124493030
| NR5A1 | | Non-obstructive azoospermia, 46,XY sex reversal 3 | Likely pathogenic
(Mar 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:127262988
- GRCh38:
- Chr9:124500709
| NR5A1 | R84H | Oligosynaptic infertility, 46,XY disorder of sex development, 46,XY sex reversal 3
| Likely pathogenic
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:127244699-127245207
- GRCh38:
- Chr9:124482420-124482928
| NR5A1 | | Oligosynaptic infertility, 46,XY sex reversal 3, Oligosynaptic infertility,
46,XY disorder of sex development | Likely pathogenic
(Sep 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127265364-127265366
- GRCh38:
- Chr9:124503085-124503087
| NR5A1 | R79del | 46,XY sex reversal 3, Oligosynaptic infertility | Uncertain significance
(Mar 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127265637-127265641
- GRCh38:
- Chr9:124503358-124503362
| NR5A1 | L12fs | 46,XY sex reversal 3 | Pathogenic
(Feb 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127255361
- GRCh38:
- Chr9:124493082
| NR5A1 | R313L | 46,XY sex reversal 3 | Likely pathogenic
(Nov 4, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr8:11615835
- GRCh38:
- Chr8:11758326
| GATA4 | P394T, P395T, P188T, P146T | not specified, Atrioventricular septal defect 4, not provided
| Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:127255362
- GRCh38:
- Chr9:124493083
| NR5A1 | R313C | not provided, 46,XY sex reversal 3, Oligosynaptic infertility,
46,XY disorder of sex development | Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:127262965
- GRCh38:
- Chr9:124500686
| NR5A1 | R92W | Oligosynaptic infertility, 46,XY disorder of sex development, 46,XX sex reversal 4,
not provided, 46,XY sex reversal 3 | Conflicting interpretations of pathogenicity
(Sep 16, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:106801042
- GRCh38:
- Chr8:105788814
| ZFPM2, ZFPM2-AS1 | S210T, S157T, S78T | 46,XY sex reversal 9, not specified, not provided
| Benign/Likely benign
(Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:106456600
- GRCh38:
- Chr8:105444372
| ZFPM2 | D98N, D45N | 46,XY sex reversal 9 | Benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127245213
- GRCh38:
- Chr9:124482934
| NR5A1 | Y404D | 46,XY sex reversal 3 | Pathogenic
(May 27, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127265451
- GRCh38:
- Chr9:124503172
| NR5A1 | E51* | 46,XY sex reversal 3 | Pathogenic
(Jul 29, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr8:106813942
- GRCh38:
- Chr8:105801714
| ZFPM2, ZFPM2-AS1 | M544I, M491I, M412I | 46,XY sex reversal 9, not specified, not provided
| Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:11615875
- GRCh38:
- Chr8:11758366
| GATA4 | P407Q, P201Q, P408Q, P159Q | not specified, Testicular anomalies with or without congenital heart disease, not provided,
Atrioventricular septal defect 4, Ventricular septal defect 1, Atrial septal defect 2,
Atrioventricular septal defect 4 | Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:11614483
- GRCh38:
- Chr8:11756974
| GATA4 | A346V, A347V, A140V, A98V | Cardiovascular phenotype, not specified, not provided,
Atrioventricular septal defect 4 | Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:127262849
- GRCh38:
- Chr9:124500570
| NR5A1 | P131fs | 46,XY sex reversal 3, Premature ovarian failure 7 | Pathogenic
(Mar 19, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr9:127265672
- GRCh38:
- Chr9:124503393
| NR5A1 | M1I | 46,XY sex reversal 3, Premature ovarian failure 7 | Pathogenic
(Mar 19, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr9:127255422
- GRCh38:
- Chr9:124493143
| NR5A1 | D293N | 46,XY sex reversal 3, Premature ovarian failure 7 | Pathogenic
(Mar 19, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr9:127262573
- GRCh38:
- Chr9:124500294
| NR5A1 | N222fs | 46,XY sex reversal 3, Premature ovarian failure 7 | Pathogenic
(Mar 19, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr9:127245113
- GRCh38:
- Chr9:124482834
| NR5A1 | L437Q | 46,XY sex reversal 3 | Pathogenic
(Mar 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr9:127262968
- GRCh38:
- Chr9:124500689
| NR5A1 | G91S | 46,XY sex reversal 3 | Pathogenic
(Mar 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr9:127265368
- GRCh38:
- Chr9:124503089
| NR5A1 | M78I | 46,XY sex reversal 3 | Pathogenic
(Mar 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr9:127265632
- GRCh38:
- Chr9:124503353
| NR5A1 | V15M | 46,XY sex reversal 3 | Pathogenic
(Mar 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr9:127265657
- GRCh38:
- Chr9:124503378
| NR5A1 | D6fs | 46,XY sex reversal 3 | Pathogenic
(Dec 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr9:127265627
- GRCh38:
- Chr9:124503348
| NR5A1 | C16* | 46,XY sex reversal 3 | Pathogenic
(Oct 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr9:127253433-127253440
- GRCh38:
- Chr9:124491154-124491161
| NR5A1 | E353fs | 46,XY sex reversal 3 | Pathogenic
(Apr 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr9:127262964
- GRCh38:
- Chr9:124500685
| NR5A1 | R92Q | 46,XY sex reversal 3, 46,XX sex reversal 4, ADRENAL INSUFFICIENCY, NR5A1-RELATED
| Pathogenic
(Apr 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr9:127265497-127265498
- GRCh38:
- Chr9:124503218-124503219
| NR5A1 | G35E | 46,XY sex reversal 3 | Pathogenic
(Oct 24, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr8:106814417
- GRCh38:
- Chr8:105802189
| ZFPM2, ZFPM2-AS1 | M703L, M650L, M571L | 46,XY sex reversal 9 | Benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:106431420
- GRCh38:
- Chr8:105419192
| ZFPM2 | E30G | 46,XY sex reversal 9, not provided, not specified
| Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |