Total 55 pathogenic variants reported for Somatotroph adenoma 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) SNV
Germline		 Chr11:67483198 Pathogenic Pituitary adenoma predisposition
Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117122 rs_104894194

3 SubmittersRCV000005163RCV000508640RCV001021869RCV003555921
NM_003977.4(AIP):c.469-1G>A SNV
Germline		 Chr11:67490037 Pathogenic Somatotroph adenoma No Assertion Criteria Provided
 CA340297 rs_267606555

2 SubmittersRCV000005165
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) SNV
Germline		 Chr11:67490910 Pathogenic Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340298 rs_104894195

7 SubmittersRCV000005166RCV001018873RCV001213277
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) SNV
Germline		 Chr11:67490804 Pathogenic Pituitary adenoma predisposition
Somatotroph adenoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117126 rs_121908356

4 SubmittersRCV000005170RCV000034106RCV003555922
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) SNV
Germline		 Chr11:67490911 Conflicting classifications of pathogenicity Pituitary dependent hypercortisolism
not specified
Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Dopamine agonists response
Condition: not provided
AIP-related disorder		 Criteria Provided
Conflicting Classifications
 CA340308 rs_104894190

15 SubmittersRCV000005171RCV000439236RCV000508590RCV000571906RCV000735427RCV000766368RCV004748499
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) SNV
Germline		 Chr11:67483222 Pathogenic Somatotroph adenoma No Assertion Criteria Provided
 CA340312 rs_121908357

2 SubmittersRCV000005172
NM_003977.4(AIP):c.145G>A (p.Val49Met) SNV
Germline		 Chr11:67487051 Conflicting classifications of pathogenicity Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided
AIP-related disorder		 Criteria Provided
Conflicting Classifications
 CA344063 rs_1063385

8 SubmittersRCV000034063RCV000563699RCV000897518RCV003894847
NM_003977.4(AIP):c.241C>T (p.Arg81Ter) SNV
Germline		 Chr11:67487147 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Somatotroph adenoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344075 rs_267606541

3 SubmittersRCV004619192RCV001852689RCV000034066
NM_003977.4(AIP):c.383G>A (p.Arg128His) SNV
Germline		 Chr11:67489370 Conflicting classifications of pathogenicity Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA344099 rs_267606550

4 SubmittersRCV000034075RCV001021265RCV001052633
NM_003977.4(AIP):c.47G>A (p.Arg16His) SNV
Germline		 Chr11:67483205 Conflicting classifications of pathogenicity Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial isolated pituitary adenoma
AIP-related disorder		 Criteria Provided
Conflicting Classifications
 CA344116 rs_145047094

10 SubmittersRCV000034083RCV000560928RCV000893230RCV001554284RCV003924890
NM_003977.4(AIP):c.490C>T (p.Gln164Ter) SNV
Germline		 Chr11:67490059 Pathogenic Somatotroph adenoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Single Submitter
 CA344120 rs_104895073

2 SubmittersRCV000034084RCV001023250
NM_003977.4(AIP):c.550C>T (p.Gln184Ter) SNV
Germline		 Chr11:67490119 Pathogenic Condition: not provided
Somatotroph adenoma		 Criteria Provided
Single Submitter
 CA344126 rs_267606560

2 SubmittersRCV003556104RCV000034087
NM_003977.4(AIP):c.584T>C (p.Val195Ala) SNV
Germline		 Chr11:67490153 Conflicting classifications of pathogenicity Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA344130 rs_267606561

5 SubmittersRCV000034088RCV001024601RCV001326206
NM_003977.4(AIP):c.649C>T (p.Gln217Ter) SNV
Germline		 Chr11:67490319 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Somatotroph adenoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344146 rs_267606566

3 SubmittersRCV003556105RCV004018728RCV000034093
NM_003977.4(AIP):c.70G>T (p.Glu24Ter) SNV
Germline		 Chr11:67483228 Pathogenic Condition: not provided
Somatotroph adenoma		 Criteria Provided
Single Submitter
 CA344151 rs_267606568

2 SubmittersRCV001390426RCV000034095
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr) SNV
Germline		 Chr11:67490383 Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Somatotroph adenoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344155 rs_267606569

3 SubmittersRCV001379496RCV004018729RCV000034096
NM_003977.4(AIP):c.783C>T (p.Tyr261=) SNV
Germline		 Chr11:67490453 Conflicting classifications of pathogenicity Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA344183 rs_267606576

4 SubmittersRCV000034104RCV001026864RCV001473813
NM_003977.4(AIP):c.807C>T (p.Phe269=) SNV
Germline		 Chr11:67490807 Conflicting classifications of pathogenicity Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided
AIP-related disorder		 Criteria Provided
Conflicting Classifications
 CA344196 rs_139407567

13 SubmittersRCV000034108RCV000571925RCV000951118RCV003952391
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) SNV
Germline		 Chr11:67490811 Pathogenic/Likely pathogenic Somatotroph adenoma
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344201 rs_267606579

4 SubmittersRCV000034109RCV001852690RCV002415456
NM_003977.4(AIP):c.896C>T (p.Ala299Val) SNV
Germline		 Chr11:67490896 Conflicting classifications of pathogenicity Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided
AIP-related disorder		 Criteria Provided
Conflicting Classifications
 CA344210 rs_148986773

10 SubmittersRCV000034113RCV000571818RCV001357152RCV003904890
NM_003977.4(AIP):c.965C>T (p.Ala322Val) SNV
Germline		 Chr11:67490965 Conflicting classifications of pathogenicity Somatotroph adenoma
Condition: not provided
Hereditary cancer-predisposing syndrome
AIP-related disorder		 Criteria Provided
Conflicting Classifications
 CA344215 rs_267606586

4 SubmittersRCV000034115RCV001061414RCV002371818RCV004748542
NM_001370259.2(MEN1):c.*470A>G SNV
Germline		 Chr11:64803864 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Somatotroph adenoma
Hyperparathyroidism
not specified		 Criteria Provided
Conflicting Classifications
 CA10635265 rs_778272737

3 SubmittersRCV000359433RCV000736006RCV000302380RCV002248514
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) SNV
Germline		 Chr11:67483226 Conflicting classifications of pathogenicity Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided
AIP-related disorder		 Criteria Provided
Conflicting Classifications
 CA6140674 rs_116940576

6 SubmittersRCV000304446RCV000568999RCV000909790RCV003920260
NM_003977.4(AIP):c.301G>A (p.Val101Met) SNV
Germline		 Chr11:67489288 Conflicting classifications of pathogenicity Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
AIP-related disorder		 Criteria Provided
Conflicting Classifications
 CA6140781 rs_147931650

7 SubmittersRCV000272200RCV000567882RCV001441310RCV003151020RCV003967877
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) SNV
Germline		 Chr11:67490086 Conflicting classifications of pathogenicity Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided
AIP-related disorder		 Criteria Provided
Conflicting Classifications
 CA6140863 rs_138902236

6 SubmittersRCV000294654RCV000567733RCV000733441RCV003409472
NM_001370259.2(MEN1):c.*412G>A SNV
Germline		 Chr11:64803922 Likely pathogenic Somatotroph adenoma Criteria Provided
Single Submitter
 rs_972128957

1 SubmittersRCV000736007
NM_001370259.2(MEN1):c.1831T>A (p.Ter611Arg) SNV
Germline		 Chr11:64804336 Pathogenic Somatotroph adenoma Criteria Provided
Single Submitter
 rs_1565635212

1 SubmittersRCV000736005
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) SNV
Germline		 Chr11:67483184 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Acroleukopathy, symmetric
Somatotroph adenoma
Pituitary dependent hypercortisolism
Condition: not provided
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 CA6140668 rs_139459091

9 SubmittersRCV000561910RCV000765005RCV001054806RCV001764674
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) SNV
Germline		 Chr11:67489369 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial isolated pituitary adenoma
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 CA6140795 rs_140530307

6 SubmittersRCV000565333RCV000733154RCV001554286RCV003459374
NM_003977.4(AIP):c.827C>T (p.Ala276Val) SNV
Germline		 Chr11:67490827 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Acroleukopathy, symmetric
Somatotroph adenoma
Pituitary dependent hypercortisolism
Condition: not provided
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 CA6140987 rs_61741147

5 SubmittersRCV000573085RCV000765006RCV001202575RCV003465251
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) SNV
Germline		 Chr11:67490967 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial isolated pituitary adenoma
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 CA6141013 rs_188965257

5 SubmittersRCV000564964RCV001040402RCV001526825RCV004569247
NM_003977.4(AIP):c.692C>T (p.Thr231Met) SNV
Germline		 Chr11:67490362 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 rs_532170807

4 SubmittersRCV000937880RCV001025814RCV001294202
NM_003977.4(AIP):c.205A>G (p.Lys69Glu) SNV
Germline		 Chr11:67487111 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 rs_141223463

4 SubmittersRCV001014268RCV001043193RCV003153884
NM_003977.4(AIP):c.326C>T (p.Ala109Val) SNV
Germline		 Chr11:67489313 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 rs_548910485

4 SubmittersRCV001019538RCV001057031RCV004569980
NM_003977.4(AIP):c.403C>T (p.His135Tyr) SNV
Germline		 Chr11:67489390 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 rs_150487522

4 SubmittersRCV001021731RCV001437421RCV004570001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) SNV
Germline		 Chr11:67490140 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 rs_189861025

5 SubmittersRCV001061657RCV001024451RCV001104757
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) SNV
Germline		 Chr11:67490403 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 rs_150645662

6 SubmittersRCV001026294RCV001231533RCV001105892
NM_003977.4(AIP):c.908G>A (p.Ser303Asn) SNV
Germline		 Chr11:67490908 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 rs_1006697477

3 SubmittersRCV001018824RCV001040304RCV003461373
NM_003977.4(AIP):c.974G>A (p.Arg325Gln) SNV
Germline		 Chr11:67490974 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
AIP-related disorder
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 rs_754619109

6 SubmittersRCV001019700RCV001203294RCV004749585RCV003153889
NM_003977.4(AIP):c.645+2T>C SNV
Germline		 Chr11:67490216 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Somatotroph adenoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1293512916

4 SubmittersRCV001025282RCV004796352RCV001862318
NM_003977.4(AIP):c.249G>A (p.Gly83=) SNV
Germline		 Chr11:67487155 Conflicting classifications of pathogenicity Somatotroph adenoma
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_104895072

3 SubmittersRCV001102834RCV001397759RCV004032090
NM_003977.4(AIP):c.935G>A (p.Arg312Gln) SNV
Germline		 Chr11:67490935 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 rs_775563618

3 SubmittersRCV001294651RCV002375339RCV004570675
NM_003977.4(AIP):c.164C>T (p.Ala55Val) SNV
Germline		 Chr11:67487070 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 rs_1865805899

3 SubmittersRCV001322598RCV003284193RCV003469552
NM_003977.4(AIP):c.476G>A (p.Ser159Asn) SNV
Germline		 Chr11:67490045 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Somatotroph adenoma		 Criteria Provided
Conflicting Classifications
 rs_536239840

5 SubmittersRCV002255978RCV003094256RCV003464419