| - GRCh37:
- Chr3:57232789
- GRCh38:
- Chr3:57198761
| HESX1 | Q117* | Septo-optic dysplasia sequence | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232784
- GRCh38:
- Chr3:57198756
| HESX1 | N118K | Septo-optic dysplasia sequence | Uncertain significance
(Oct 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57130421-57303715
| APPL1, ASB14, HESX1, IL17RD | | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Uncertain significance
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232822
- GRCh38:
- Chr3:57198794
| HESX1 | Y106D | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Uncertain significance
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232333
- GRCh38:
- Chr3:57198305
| HESX1 | | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Likely benign
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233912
- GRCh38:
- Chr3:57199884
| HESX1 | G12E | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Uncertain significance
(Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232285
- GRCh38:
- Chr3:57198257
| HESX1 | | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Likely benign
(Oct 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232832-57232833
- GRCh38:
- Chr3:57198804-57198805
| HESX1 | E102fs | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Pathogenic
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232820
- GRCh38:
- Chr3:57198792
| HESX1 | | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Likely benign
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232833
- GRCh38:
- Chr3:57198805
| HESX1 | E102V | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Uncertain significance
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233879
- GRCh38:
- Chr3:57199851
| HESX1 | I23T | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Uncertain significance
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233771
- GRCh38:
- Chr3:57199743
| HESX1 | | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Likely benign
(Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232835
- GRCh38:
- Chr3:57198807
| HESX1 | | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Likely benign
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232803
- GRCh38:
- Chr3:57198775
| HESX1 | R112T | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Uncertain significance
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232806
- GRCh38:
- Chr3:57198778
| HESX1 | P111L | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232850
- GRCh38:
- Chr3:57198822
| HESX1 | R96S | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Uncertain significance
(Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233897
- GRCh38:
- Chr3:57199869
| HESX1 | S17L | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Uncertain significance
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232897
- GRCh38:
- Chr3:57198869
| HESX1 | E81* | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Pathogenic
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232919
- GRCh38:
- Chr3:57198891
| HESX1 | | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Uncertain significance
(Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232401
- GRCh38:
- Chr3:57198373
| HESX1 | | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Likely benign
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232525-57232526
- GRCh38:
- Chr3:57198497-57198498
| HESX1 | | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Benign
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232489
- GRCh38:
- Chr3:57198461
| HESX1 | N130fs | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Pathogenic
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233872
- GRCh38:
- Chr3:57199844
| HESX1 | | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233900
- GRCh38:
- Chr3:57199872
| HESX1 | P16L | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Uncertain significance
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232526
- GRCh38:
- Chr3:57198498
| HESX1 | | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233785
- GRCh38:
- Chr3:57199757
| HESX1 | | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232404
- GRCh38:
- Chr3:57198376
| HESX1 | | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Likely benign
(Jun 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233842
- GRCh38:
- Chr3:57199814
| HESX1 | | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Likely benign
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233922
- GRCh38:
- Chr3:57199894
| HESX1 | A9T | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153560562-153864851
| CTAG1A, CTAG1B, DNASE1L1, FAM50A, FLNA, G6PD, SLC10A3, UBL4A, EMD, FAM3A, TAFAZZIN, ATP6AP1, GDI1, IKBKG, LAGE3, PLXNA3, RPL10 | | Septo-optic dysplasia sequence | Likely pathogenic
(Dec 17, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:57232829
- GRCh38:
- Chr3:57198801
| HESX1 | L103F | Septo-optic dysplasia sequence, Inborn genetic diseases | Uncertain significance
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27107014
- GRCh38:
- Chr1:26780523
| ARID1A | Q1992*, Q2209* | Septo-optic dysplasia sequence | Pathogenic
(Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:155598989
- GRCh38:
- Chr7:155806295
| SHH | | Septo-optic dysplasia sequence | Pathogenic
(Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233797
- GRCh38:
- Chr3:57199769
| HESX1 | | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Likely benign
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233913
- GRCh38:
- Chr3:57199885
| HESX1 | G12R | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232504-57232505
- GRCh38:
- Chr3:57198476-57198477
| HESX1 | N125G | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence, not provided
| Uncertain significance
(Dec 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57232980
- GRCh38:
- Chr3:57198952
| HESX1 | G53E | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232473
- GRCh38:
- Chr3:57198445
| HESX1 | I135M | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232975
- GRCh38:
- Chr3:57198947
| HESX1 | D55N | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Uncertain significance
(Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233812
- GRCh38:
- Chr3:57199784
| HESX1 | W45* | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Pathogenic
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232788
- GRCh38:
- Chr3:57198760
| HESX1 | Q117P | Inborn genetic diseases, Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies
| Uncertain significance
(Nov 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57232965
- GRCh38:
- Chr3:57198937
| HESX1 | L58fs | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Pathogenic
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232326
- GRCh38:
- Chr3:57198298
| HESX1 | | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies, Inborn genetic diseases
| Uncertain significance
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57233936
- GRCh38:
- Chr3:57199908
| HESX1 | S4N | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence
| Uncertain significance
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57232478
- GRCh38:
- Chr3:57198450
| HESX1 | G134R | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Uncertain significance
(Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233944
- GRCh38:
- Chr3:57199916
| HESX1 | M1I | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence
| Conflicting interpretations of pathogenicity
(Jul 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:57232308
- GRCh38:
- Chr3:57198280
| HESX1 | R159W | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence,
not provided | Conflicting interpretations of pathogenicity
(Jun 12, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:57232266
- GRCh38:
- Chr3:57198238
| HESX1 | | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Likely benign
(Feb 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233914
- GRCh38:
- Chr3:57199886
| HESX1 | | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Likely benign
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233810
- GRCh38:
- Chr3:57199782
| HESX1 | A46V | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence, Inborn genetic diseases
| Uncertain significance
(Mar 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57233823
- GRCh38:
- Chr3:57199795
| HESX1 | H42Y | Inborn genetic diseases, Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence,
Septo-optic dysplasia sequence | Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57232975
- GRCh38:
- Chr3:57198947
| HESX1 | D55Y | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232428
- GRCh38:
- Chr3:57198400
| HESX1 | D150E | Septo-optic dysplasia sequence | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233952
- GRCh38:
- Chr3:57199924
| HESX1 | | Septo-optic dysplasia sequence | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232177
- GRCh38:
- Chr3:57198149
| HESX1 | | Septo-optic dysplasia sequence | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232330
- GRCh38:
- Chr3:57198302
| HESX1 | | Septo-optic dysplasia sequence | Likely benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232955
- GRCh38:
- Chr3:57198927
| HESX1 | | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence, Septo-optic dysplasia sequence
| Conflicting interpretations of pathogenicity
(Sep 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:57232883
- GRCh38:
- Chr3:57198855
| HESX1 | | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57233857
- GRCh38:
- Chr3:57199829
| HESX1 | | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence, not specified
| Benign/Likely benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57232981
- GRCh38:
- Chr3:57198953
| HESX1 | | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies | Likely pathogenic
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232812
- GRCh38:
- Chr3:57198784
| HESX1 | R109Q | not provided, Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies,
Septo-optic dysplasia sequence | Uncertain significance
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57232825
- GRCh38:
- Chr3:57198797
| HESX1 | W105G | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence, not specified
| Uncertain significance
(Jun 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57232830
- GRCh38:
- Chr3:57198802
| HESX1 | L103* | not provided | Likely pathogenic
(Jul 1, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57232898
- GRCh38:
- Chr3:57198870
| HESX1 | E81fs | Septo-optic dysplasia sequence, Pituitary hormone deficiency, combined, 1 | Pathogenic
(Sep 7, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr3:57232938
- GRCh38:
- Chr3:57198910
| HESX1 | S67N | Septo-optic dysplasia sequence, Pituitary hormone deficiency, combined, 1 | Uncertain significance
(Sep 15, 2011) | no assertion criteria provided |
| | | | Tubulinopathy, Septo-optic dysplasia sequence | Likely pathogenic
(Oct 6, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:37163795
- GRCh38:
- Chr20:38535152
| RALGAPB | R775L, R771L | Septo-optic dysplasia sequence | Likely pathogenic
(Oct 6, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57234222
- GRCh38:
- Chr3:57200194
| HESX1 | | Septo-optic dysplasia sequence, Combined Pituitary Hormone Deficiency, Dominant/Recessive | Conflicting interpretations of pathogenicity
(May 28, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:57234191
- GRCh38:
- Chr3:57200163
| HESX1 | | Septo-optic dysplasia sequence, Combined Pituitary Hormone Deficiency, Dominant/Recessive | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57234176
- GRCh38:
- Chr3:57200148
| HESX1 | | Septo-optic dysplasia sequence, Combined Pituitary Hormone Deficiency, Dominant/Recessive | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57234144-57234147
- GRCh38:
- Chr3:57200116-57200119
| HESX1 | | Septo-optic dysplasia sequence, Combined Pituitary Hormone Deficiency, Dominant/Recessive | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232918
- GRCh38:
- Chr3:57198890
| HESX1 | V74M | Combined Pituitary Hormone Deficiency, Dominant/Recessive, Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies,
Septo-optic dysplasia sequence | Uncertain significance
(Aug 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57232033
- GRCh38:
- Chr3:57198005
| HESX1 | | Combined Pituitary Hormone Deficiency, Dominant/Recessive, Septo-optic dysplasia sequence | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:57232938
- GRCh38:
- Chr3:57198910
| HESX1 | S67T | not provided, Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies
| Uncertain significance
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57232504
- GRCh38:
- Chr3:57198476
| HESX1 | N125S | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies, Combined Pituitary Hormone Deficiency, Dominant/Recessive,
not specified, not provided, Septo-optic dysplasia sequence
| Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57232493
- GRCh38:
- Chr3:57198465
| HESX1 | V129I | Septo-optic dysplasia sequence, Growth hormone deficiency with pituitary anomalies, not provided,
Septo-optic dysplasia sequence | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:57232258
- GRCh38:
- Chr3:57198230
| HESX1 | | not specified, not provided, Septo-optic dysplasia sequence,
Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:181430207-181430226
- GRCh38:
- Chr3:181712419-181712438
| LOC108281177, SOX2, SOX2-OT | N24fs | not provided, Anophthalmia/microphthalmia-esophageal atresia syndrome, Septo-optic dysplasia sequence
| Pathogenic
(Aug 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57233929
- GRCh38:
- Chr3:57199901
| HESX1 | Q6H | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence, not provided
| Uncertain significance
(Dec 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57232258
- GRCh38:
- Chr3:57198230
| HESX1 | N178fs | Septo-optic dysplasia sequence | Pathogenic
(Oct 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr3:57232831-57232832
- GRCh38:
- Chr3:57198803-57198804
| HESX1 | L103fs | Septo-optic dysplasia sequence | Pathogenic
(Jan 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr3:57232242
- GRCh38:
- Chr3:57198214
| HESX1 | T181A | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence, not provided,
Septo-optic dysplasia sequence, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:57232274
- GRCh38:
- Chr3:57198246
| HESX1 | S170L | Growth hormone deficiency with pituitary anomalies, Septo-optic dysplasia sequence, not provided
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:57232305
- GRCh38:
- Chr3:57198277
| HESX1 | R160C | Septo-optic dysplasia sequence | Pathogenic
(Jun 1, 1998) | no assertion criteria provided |