Total 58 pathogenic variants reported for Glucocorticoid deficiency with achalasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter) SNV
Germline		 Chr12:53309158 Pathogenic/Likely pathogenic Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117222 rs_121918547

5 SubmittersRCV000005342RCV002288466
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) SNV
Germline		 Chr12:53307698 Pathogenic Glucocorticoid deficiency with achalasia
Condition: not provided
Neurodevelopmental disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117224 rs_121918548

10 SubmittersRCV000005343RCV000255523RCV001778647
NM_015665.6(AAAS):c.400-2A>G SNV
Germline		 Chr12:53315142 Pathogenic Glucocorticoid deficiency with achalasia No Assertion Criteria Provided
 rs_1565781382

1 SubmittersRCV000005345
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) SNV
Germline		 Chr12:53321423 Pathogenic Glucocorticoid deficiency with achalasia
Condition: not provided
AAAS-related disorder
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117227 rs_121918549

13 SubmittersRCV000005347RCV000255807RCV004748500RCV004955251
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) SNV
Germline		 Chr12:53309624 Pathogenic/Likely pathogenic Glucocorticoid deficiency with achalasia
Condition: not provided
Spastic paraparesis
Babinski sign
Hyperreflexia
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117228 rs_121918550

10 SubmittersRCV000005348RCV000311283RCV000415076RCV000624696
NM_015665.6(AAAS):c.1087+1G>A SNV
Germline		 Chr12:53308724 Likely pathogenic Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Single Submitter
 CA237331147 rs_1035139364

2 SubmittersRCV000005349RCV003555924
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter) SNV
Germline		 Chr12:53320565 Pathogenic/Likely pathogenic Glucocorticoid deficiency with achalasia
Condition: not provided
Achalasia-alacrima syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6599308 rs_754637718

4 SubmittersRCV000005351RCV002512803RCV002508105
NM_015665.6(AAAS):c.679T>C (p.Leu227=) SNV
Germline		 Chr12:53314308 Conflicting classifications of pathogenicity Condition: not provided
Glucocorticoid deficiency with achalasia
not specified		 Criteria Provided
Conflicting Classifications
 CA230844 rs_80027466

5 SubmittersRCV000116211RCV000322296RCV000419976
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) SNV
Germline		 Chr12:53309018 Likely pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter
 CA203842 rs_773601814

2 SubmittersRCV000184015
NM_015665.6(AAAS):c.1331+1G>A SNV
Germline		 Chr12:53308051 Pathogenic Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6598880 rs_150511103

11 SubmittersRCV000005346RCV000254890
NM_015665.6(AAAS):c.912T>G (p.Ala304=) SNV
Germline		 Chr12:53309180 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6599060 rs_138749872

3 SubmittersRCV000259399RCV000966397
NM_015665.6(AAAS):c.1416+8C>T SNV
Germline		 Chr12:53307837 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6598848 rs_370325323

2 SubmittersRCV000404477RCV003556319
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln) SNV
Germline		 Chr12:53308082 Conflicting classifications of pathogenicity Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Conflicting Classifications
 CA6598892 rs_112579822

2 SubmittersRCV002056317RCV000314857
NM_015665.6(AAAS):c.996+12C>T SNV
Germline		 Chr12:53308948 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6599029 rs_200312077

3 SubmittersRCV000317951RCV001805011
NM_015665.6(AAAS):c.939C>T (p.Val313=) SNV
Germline		 Chr12:53309017 Conflicting classifications of pathogenicity Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Conflicting Classifications
 CA6599041 rs_79881935

2 SubmittersRCV002056318RCV000356418
NM_015665.6(AAAS):c.663C>G (p.Thr221=) SNV
Germline		 Chr12:53314324 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10638069 rs_886049650

2 SubmittersRCV000383886RCV000899336
NM_015665.6(AAAS):c.63C>G (p.His21Gln) SNV
Germline		 Chr12:53321403 Conflicting classifications of pathogenicity Condition: not provided
AAAS-related disorder
Glucocorticoid deficiency with achalasia		 Criteria Provided
Conflicting Classifications
 CA6599373 rs_200408293

3 SubmittersRCV000879353RCV003930318RCV000337631
NM_015665.6(AAAS):c.894C>T (p.Asp298=) SNV
Germline		 Chr12:53309198 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6599067 rs_199636211

2 SubmittersRCV000316949RCV002056319
NM_015665.6(AAAS):c.333C>T (p.Ser111=) SNV
Germline		 Chr12:53315401 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided
AAAS-related disorder		 Criteria Provided
Conflicting Classifications
 CA6599260 rs_146770218

3 SubmittersRCV000344324RCV003765811RCV003950050
NM_015665.6(AAAS):c.124-4A>G SNV
Germline		 Chr12:53320696 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10641984 rs_886049651

2 SubmittersRCV000393947RCV003765812
NM_015665.6(AAAS):c.1566C>T (p.Ser522=) SNV
Germline		 Chr12:53307564 Conflicting classifications of pathogenicity Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Conflicting Classifications
 CA10642826 rs_886049648

2 SubmittersRCV003708513RCV000284339
NM_015665.6(AAAS):c.1249+8G>A SNV
Germline		 Chr12:53308274 Conflicting classifications of pathogenicity Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Conflicting Classifications
 CA6598921 rs_200834285

2 SubmittersRCV000888966RCV000366879
NM_015665.6(AAAS):c.843C>G (p.Pro281=) SNV
Germline		 Chr12:53309249 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6599074 rs_145196232

2 SubmittersRCV000286533RCV000894842
NM_015665.6(AAAS):c.-130C>T SNV
Germline		 Chr12:53321595 Conflicting classifications of pathogenicity Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Conflicting Classifications
 CA10642842 rs_149864679

2 SubmittersRCV003221907RCV000267393
NM_015665.6(AAAS):c.885G>A (p.Trp295Ter) SNV
Germline		 Chr12:53309207 Pathogenic Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA385041929 rs_766542823

2 SubmittersRCV000493433RCV004545882
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter) SNV
Germline		 Chr12:53308083 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_751369041

2 SubmittersRCV000778368RCV003558580
NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe) SNV
Germline		 Chr12:53308742 Conflicting classifications of pathogenicity Condition: not provided
Glucocorticoid deficiency with achalasia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_368094339

3 SubmittersRCV000981492RCV001110208RCV002548455
NM_015665.6(AAAS):c.688C>T (p.Arg230Ter) SNV
Germline		 Chr12:53314299 Pathogenic Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_758057774

2 SubmittersRCV001043399RCV001784588
NM_015665.6(AAAS):c.464G>A (p.Arg155His) SNV
Germline		 Chr12:53314832 Pathogenic/Likely pathogenic Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_758440592

7 SubmittersRCV001092484RCV001706976
NM_015665.6(AAAS):c.981A>G (p.Leu327=) SNV
Germline		 Chr12:53308975 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1174765635

2 SubmittersRCV001110210RCV003769121
NM_015665.6(AAAS):c.819T>C (p.Asp273=) SNV
Germline		 Chr12:53309273 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_149487112

2 SubmittersRCV001110959RCV003718330
NM_015665.6(AAAS):c.327G>A (p.Thr109=) SNV
Germline		 Chr12:53315407 Conflicting classifications of pathogenicity Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Conflicting Classifications
 rs_190876509

2 SubmittersRCV003727865RCV001112965
NM_015665.6(AAAS):c.308T>C (p.Val103Ala) SNV
Germline		 Chr12:53315426 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_201692749

2 SubmittersRCV001112966RCV003558675
NM_015665.6(AAAS):c.1417-14T>G SNV
Germline		 Chr12:53307727 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_748004231

2 SubmittersRCV001114236RCV003769139
NM_015665.6(AAAS):c.307+13C>T SNV
Germline		 Chr12:53315714 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_761242924

2 SubmittersRCV001112967RCV002069821
NM_015665.6(AAAS):c.399+1G>A SNV
Germline		 Chr12:53315334 Pathogenic Glucocorticoid deficiency with achalasia No Assertion Criteria Provided
 rs_2136811976

1 SubmittersRCV001449917
NM_015665.6(AAAS):c.500C>T (p.Ala167Val) SNV
Germline		 Chr12:53314796 Pathogenic Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1017700992

2 SubmittersRCV003557743RCV004765890
NM_015665.6(AAAS):c.446+1G>A SNV
Germline		 Chr12:53315093 Pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter
 rs_2136811371

1 SubmittersRCV004586038
NM_015665.6(AAAS):c.355C>T (p.Arg119Ter) SNV
Germline		 Chr12:53315379 Pathogenic Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_754078574

2 SubmittersRCV003561308RCV003332013
NM_015665.6(AAAS):c.901A>T (p.Lys301Ter) SNV
Germline		 Chr12:53309191 Likely pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter
 rs_774817639

1 SubmittersRCV001784889
NM_015665.6(AAAS):c.852G>A (p.Trp284Ter) SNV
Germline		 Chr12:53309240 Pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter
 rs_1944347921

1 SubmittersRCV001784911
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr) SNV
Germline		 Chr12:53309205 Pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter
 rs_1450008394

1 SubmittersRCV002249207
NM_015665.6(AAAS):c.1517C>G (p.Ala506Gly) SNV
Germline		 Chr12:53307613 Conflicting classifications of pathogenicity Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002606989RCV004698577
NM_015665.6(AAAS):c.810+1G>A SNV
Germline		 Chr12:53309600 Pathogenic/Likely pathogenic Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002631912RCV003479438
NM_015665.6(AAAS):c.301G>T (p.Glu101Ter) SNV
Germline		 Chr12:53315733 Likely pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter

1 SubmittersRCV003986012
NM_015665.6(AAAS):c.1007G>A (p.Trp336Ter) SNV
Germline		 Chr12:53308805 Pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter

1 SubmittersRCV004783714