Total 62 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

11 SubmittersRCV000005343RCV000255523RCV001778647
NM_015665.6(AAAS):c.400-2A>G SNV
Germline		 Chr12:53315142 Pathogenic Glucocorticoid deficiency with achalasia No Assertion Criteria Provided
 CA385044106 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
Malignant tumor of esophagus		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117227 rs_121918549

16 SubmittersRCV000005347RCV000255807RCV004748500RCV004955251RCV005887300
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

12 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

5 SubmittersRCV000005351RCV002512803RCV002508105
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) SNV
Germline		 Chr12:53309018 Likely pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Multiple Submitters
No Conflicts
 CA203842 rs_773601814

3 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

12 SubmittersRCV000005346RCV000254890
NM_015665.6(AAAS):c.500C>A (p.Ala167Glu) SNV
Germline		 Chr12:53314796 Pathogenic/Likely pathogenic Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042909 rs_1017700992

3 SubmittersRCV000413311RCV005431650
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.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
 CA6599000 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
 CA6599137 rs_758057774

3 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
 CA6599181 rs_758440592

8 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
 CA479918499 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
 CA6599077 rs_149487112

2 SubmittersRCV001110959RCV003718330
NM_015665.6(AAAS):c.327G>A (p.Thr109=) SNV
Germline		 Chr12:53315407 Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6599263 rs_190876509

2 SubmittersRCV001112965RCV003727865
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
 CA6599265 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
 CA6598838 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
 CA6599272 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
 CA385044169 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
 CA237335767 rs_1017700992

2 SubmittersRCV003557743RCV004765890
NM_015665.6(AAAS):c.856C>T (p.Arg286Ter) SNV
Germline		 Chr12:53309236 Pathogenic Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6599073 rs_145446970

2 SubmittersRCV001868847RCV005006041
NM_015665.6(AAAS):c.446+1G>A SNV
Germline		 Chr12:53315093 Pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Multiple Submitters
No Conflicts
 rs_2136811371

2 SubmittersRCV004586038
NM_015665.6(AAAS):c.355C>T (p.Arg119Ter) SNV
Germline		 Chr12:53315379 Pathogenic Glucocorticoid deficiency with achalasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6599257 rs_754078574

2 SubmittersRCV003332013RCV003561308
NM_015665.6(AAAS):c.901A>T (p.Lys301Ter) SNV
Germline		 Chr12:53309191 Likely pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter
 CA6599064 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
 CA385042074 rs_1944347921

1 SubmittersRCV001784911
NM_015665.6(AAAS):c.1024C>T (p.Arg342Ter) SNV
Germline		 Chr12:53308788 Pathogenic Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6599010 rs_757303233

2 SubmittersRCV003557737RCV005410963
NM_015665.6(AAAS):c.479A>G (p.His160Arg) SNV
Germline		 Chr12:53314817 Pathogenic Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA385043710 rs_1297831120

2 SubmittersRCV003557744RCV006262843
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr) SNV
Germline		 Chr12:53309205 Pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter
 CA385041914 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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6598807 rs_769964818

3 SubmittersRCV002606989RCV004698577RCV005382569
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
 CA385042176 rs_1305442000

3 SubmittersRCV002631912RCV003479438
NM_015665.6(AAAS):c.1A>G (p.Met1Val) SNV
Germline		 Chr12:53321465 Pathogenic/Likely pathogenic Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6599390 rs_765613977

2 SubmittersRCV003665016RCV005013066
NM_015665.6(AAAS):c.446+1G>T SNV
Germline		 Chr12:53315093 Pathogenic/Likely pathogenic Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA385043878 rs_2136811371

2 SubmittersRCV003699859RCV005013108
NM_015665.6(AAAS):c.1331+1G>C SNV
Germline		 Chr12:53308051 Pathogenic/Likely pathogenic Condition: not provided
Glucocorticoid deficiency with achalasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6598879 rs_150511103

2 SubmittersRCV003703259RCV005637013
NM_015665.6(AAAS):c.301G>T (p.Glu101Ter) SNV
Germline		 Chr12:53315733 Likely pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter
 CA385044480 rs_1339688889

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
NM_015665.6(AAAS):c.1417-2A>C SNV
Germline		 Chr12:53307715 Likely pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter

1 SubmittersRCV005011398
NM_015665.6(AAAS):c.252-1G>A SNV
Germline		 Chr12:53315783 Likely pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter

1 SubmittersRCV005011402
NM_015665.6(AAAS):c.124-2A>G SNV
Germline		 Chr12:53320694 Likely pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter

1 SubmittersRCV005011403
NM_015665.6(AAAS):c.1406T>C (p.Leu469Pro) SNV
Germline		 Chr12:53307855 Likely pathogenic Glucocorticoid deficiency with achalasia Criteria Provided
Single Submitter

1 SubmittersRCV005409355