| - GRCh37:
- Chr12:53701894-53701903
- GRCh38:
- Chr12:53308110-53308119
| AAAS | Q389fs, Q422fs | Glucocorticoid deficiency with achalasia | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:53709163
- GRCh38:
- Chr12:53315379
| AAAS | R119* | Glucocorticoid deficiency with achalasia | Pathogenic
(Aug 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53714389
- GRCh38:
- Chr12:53320605
| AAAS | H71fs | Glucocorticoid deficiency with achalasia, not provided | Pathogenic
(Oct 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702509
- GRCh38:
- Chr12:53308725
| AAAS | G330S, G363S | Glucocorticoid deficiency with achalasia | Uncertain significance
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702092
- GRCh38:
- Chr12:53308308
| AAAS | G375E, G408E | Glucocorticoid deficiency with achalasia | Uncertain significance
(May 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701466
- GRCh38:
- Chr12:53307682
| AAAS | P450fs, P483fs | Glucocorticoid deficiency with achalasia | Uncertain significance
(Sep 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702989
- GRCh38:
- Chr12:53309205
| AAAS | S263Y, S296Y | Glucocorticoid deficiency with achalasia | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701686-53701687
- GRCh38:
- Chr12:53307902-53307903
| AAAS | Q421fs, Q454fs | Glucocorticoid deficiency with achalasia | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53703029
- GRCh38:
- Chr12:53309245
| AAAS | P250S, P283S | Glucocorticoid deficiency with achalasia | Uncertain significance
(Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53703474
- GRCh38:
- Chr12:53309690
| AAAS | H208Y, H241Y | Glucocorticoid deficiency with achalasia | Uncertain significance
(Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53708133
- GRCh38:
- Chr12:53314349
| AAAS | C180S, C213S | not provided, Glucocorticoid deficiency with achalasia | Uncertain significance
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53701466
- GRCh38:
- Chr12:53307682
| AAAS | P483L, P450L | not provided, Glucocorticoid deficiency with achalasia | Uncertain significance
(Jan 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53703413-53703414
- GRCh38:
- Chr12:53309629-53309630
| AAAS | A229fs, A262fs | Glucocorticoid deficiency with achalasia | Likely pathogenic
(Mar 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53703433
- GRCh38:
- Chr12:53309649
| AAAS | S222fs, S255fs | not provided, Glucocorticoid deficiency with achalasia | Pathogenic/Likely pathogenic
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53703024
- GRCh38:
- Chr12:53309240
| AAAS | W251*, W284* | Glucocorticoid deficiency with achalasia | Pathogenic
(Oct 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702975
- GRCh38:
- Chr12:53309191
| AAAS | K268*, K301* | Glucocorticoid deficiency with achalasia | Pathogenic
(Dec 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53714509
- GRCh38:
- Chr12:53320725
| AAAS | | Glucocorticoid deficiency with achalasia, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53714290
- GRCh38:
- Chr12:53320506
| AAAS | | Glucocorticoid deficiency with achalasia, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53709708
- GRCh38:
- Chr12:53315924
| AAAS | | Glucocorticoid deficiency with achalasia, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53708011
- GRCh38:
- Chr12:53314227
| AAAS | | Glucocorticoid deficiency with achalasia, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702371
- GRCh38:
- Chr12:53308587
| AAAS | | Glucocorticoid deficiency with achalasia, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53714496
- GRCh38:
- Chr12:53320712
| AAAS | | Glucocorticoid deficiency with achalasia, not provided | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53714350
- GRCh38:
- Chr12:53320566
| AAAS | W84fs | Glucocorticoid deficiency with achalasia | Pathogenic
(May 18, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr12:53709118
- GRCh38:
- Chr12:53315334
| AAAS | | Glucocorticoid deficiency with achalasia | Pathogenic
(May 18, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr12:53703423
- GRCh38:
- Chr12:53309639
| AAAS | R258W, R225W | not specified, not provided, Glucocorticoid deficiency with achalasia
| Uncertain significance
(Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53715319
- GRCh38:
- Chr12:53321535
| AAAS, LOC130007973 | | Glucocorticoid deficiency with achalasia | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702086
- GRCh38:
- Chr12:53308302
| AAAS | R377H, R410H | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701511
- GRCh38:
- Chr12:53307727
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53709498
- GRCh38:
- Chr12:53315714
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity
(Feb 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53709210
- GRCh38:
- Chr12:53315426
| AAAS | V103A | Glucocorticoid deficiency with achalasia | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53709191
- GRCh38:
- Chr12:53315407
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53709156
- GRCh38:
- Chr12:53315372
| AAAS | A121V | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53708104
- GRCh38:
- Chr12:53314320
| AAAS | D190H, D223H | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53703387
- GRCh38:
- Chr12:53309603
| AAAS | R237W, R270W | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53703057
- GRCh38:
- Chr12:53309273
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702809
- GRCh38:
- Chr12:53309025
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702759
- GRCh38:
- Chr12:53308975
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702752
- GRCh38:
- Chr12:53308968
| AAAS | R297C, R330C | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53708616
- GRCh38:
- Chr12:53314832
| AAAS | R155H | not provided, Glucocorticoid deficiency with achalasia | Pathogenic/Likely pathogenic
(Nov 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53708083
- GRCh38:
- Chr12:53314299
| AAAS | R197*, R230* | not provided, Glucocorticoid deficiency with achalasia | Pathogenic
(May 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702526
- GRCh38:
- Chr12:53308742
| AAAS | S324F, S357F | not provided, Inborn genetic diseases, Glucocorticoid deficiency with achalasia
| Conflicting interpretations of pathogenicity
(May 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53709191
- GRCh38:
- Chr12:53315407
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Benign/Likely benign
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702803-53702804
- GRCh38:
- Chr12:53309019-53309020
| AAAS | | Glucocorticoid deficiency with achalasia | Likely pathogenic
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702806
- GRCh38:
- Chr12:53309022
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance
(Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701867
- GRCh38:
- Chr12:53308083
| AAAS | R434*, R401* | Glucocorticoid deficiency with achalasia | Uncertain significance
(Oct 3, 2017) | criteria provided, single submitter |
| - GRCh38:
- Chr12:53306793-53321761
| AAAS, LOC130007972, LOC130007973, LOC130007974, MYG1 | | Glucocorticoid deficiency with achalasia | Pathogenic
(Mar 7, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr12:53702123-53702124
- GRCh38:
- Chr12:53308339-53308340
| AAAS | E365fs, E398fs | Glucocorticoid deficiency with achalasia, not provided | Pathogenic
(Jun 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53714400
- GRCh38:
- Chr12:53320616
| AAAS | T67I | Glucocorticoid deficiency with achalasia | Uncertain significance
(Sep 28, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53715379
- GRCh38:
- Chr12:53321595
| AAAS, LOC130007973 | | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53715333
- GRCh38:
- Chr12:53321549
| LOC130007973, AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53715322
- GRCh38:
- Chr12:53321538
| AAAS, LOC130007973 | | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53715239
- GRCh38:
- Chr12:53321455
| AAAS | L4P | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53715187
- GRCh38:
- Chr12:53321403
| AAAS | H21Q | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity
(Oct 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53715185
- GRCh38:
- Chr12:53321401
| AAAS | N22S | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53714480
- GRCh38:
- Chr12:53320696
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53714366
- GRCh38:
- Chr12:53320582
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Benign/Likely benign
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53709560
- GRCh38:
- Chr12:53315776
| AAAS | D86E | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53709559
- GRCh38:
- Chr12:53315775
| AAAS | V87L | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53709185
- GRCh38:
- Chr12:53315401
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53708910
- GRCh38:
- Chr12:53315126
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53708108
- GRCh38:
- Chr12:53314324
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity
(Jan 31, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53703033
- GRCh38:
- Chr12:53309249
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53702982
- GRCh38:
- Chr12:53309198
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53702964
- GRCh38:
- Chr12:53309180
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity
(Jul 25, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53702801
- GRCh38:
- Chr12:53309017
| AAAS | | Glucocorticoid deficiency with achalasia, not provided | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53702732
- GRCh38:
- Chr12:53308948
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Uncertain significance
(Mar 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702071
- GRCh38:
- Chr12:53308287
| AAAS | M415T, M382T | not provided, Glucocorticoid deficiency with achalasia | Uncertain significance
(Jul 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702058
- GRCh38:
- Chr12:53308274
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity
(Jun 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53701866
- GRCh38:
- Chr12:53308082
| AAAS | R434Q, R401Q | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53701621
- GRCh38:
- Chr12:53307837
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701464
- GRCh38:
- Chr12:53307680
| AAAS | L484V, L451V | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701416
- GRCh38:
- Chr12:53307632
| AAAS | R500W, R467W | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701399
- GRCh38:
- Chr12:53307615
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53701357
- GRCh38:
- Chr12:53307573
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Benign/Likely benign
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53701348
- GRCh38:
- Chr12:53307564
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701323
- GRCh38:
- Chr12:53307539
| AAAS | L531F, L498F | Glucocorticoid deficiency with achalasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701317
- GRCh38:
- Chr12:53307533
| AAAS | G533R, G500R | not provided, Glucocorticoid deficiency with achalasia | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53701241
- GRCh38:
- Chr12:53307457
| AAAS | | Glucocorticoid deficiency with achalasia | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701835
- GRCh38:
- Chr12:53308051
| AAAS | | Glucocorticoid deficiency with achalasia, not provided | Pathogenic
(Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702253-53702256
- GRCh38:
- Chr12:53308469-53308472
| AAAS | S349fs, S382fs | not provided, Glucocorticoid deficiency with achalasia | Pathogenic/Likely pathogenic
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702538
- GRCh38:
- Chr12:53308754
| AAAS | I353T, I320T | not provided | Uncertain significance
(Jan 5, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702802
- GRCh38:
- Chr12:53309018
| AAAS | V313A, V280A | Glucocorticoid deficiency with achalasia | Likely pathogenic
(Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53703021
- GRCh38:
- Chr12:53309237
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53708092
- GRCh38:
- Chr12:53314308
| AAAS | | not specified, not provided, Glucocorticoid deficiency with achalasia
| Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53714349
- GRCh38:
- Chr12:53320565
| AAAS | W84* | not provided, Glucocorticoid deficiency with achalasia | Pathogenic/Likely pathogenic
(Aug 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702508
- GRCh38:
- Chr12:53308724
| AAAS | | Glucocorticoid deficiency with achalasia | Pathogenic
(Nov 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr12:53703408
- GRCh38:
- Chr12:53309624
| AAAS | S263P, S230P | Inborn genetic diseases, not provided, Glucocorticoid deficiency with achalasia,
Babinski sign, Hyperreflexia, Spastic paraparesis
| Pathogenic/Likely pathogenic
(Mar 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53715207
- GRCh38:
- Chr12:53321423
| AAAS | Q15K | not provided, Glucocorticoid deficiency with achalasia | Pathogenic
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53708926
- GRCh38:
- Chr12:53315142
| AAAS | | Glucocorticoid deficiency with achalasia | Pathogenic
(Nov 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr12:53702759-53702760
- GRCh38:
- Chr12:53308975-53308976
| AAAS | S328fs, S295fs | Glucocorticoid deficiency with achalasia | Pathogenic
(Nov 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr12:53701482
- GRCh38:
- Chr12:53307698
| AAAS | R478*, R445* | Neurodevelopmental disorder, not provided, Glucocorticoid deficiency with achalasia
| Pathogenic
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702942
- GRCh38:
- Chr12:53309158
| AAAS | R312*, R279* | not provided, Glucocorticoid deficiency with achalasia | Pathogenic/Likely pathogenic
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |