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 SubmittersRCV000005163 RCV000508640 RCV001021869 RCV003555921
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 SubmittersRCV000005166 RCV001018873 RCV001213277
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 SubmittersRCV000005170 RCV000034106 RCV003555922
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	16 SubmittersRCV000005171 RCV000439236 RCV000508590 RCV000571906 RCV000735427 RCV000766368 RCV004748499
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	9 SubmittersRCV000034063 RCV000563699 RCV000897518 RCV003894847
NM_003977.4(AIP):c.241C>T (p.Arg81Ter)	SNV Germline	Chr11:67487147	Pathogenic	Somatotroph adenoma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA344075	rs_267606541	5 SubmittersRCV000034066 RCV001852689 RCV004619192
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 SubmittersRCV000034075 RCV001021265 RCV001052633
NM_003977.4(AIP):c.424C>T (p.Gln142Ter)	SNV Germline	Chr11:67489411	Pathogenic	Somatotroph adenoma Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA344105	rs_267606552	2 SubmittersRCV000034078 RCV005831547
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 Ovarian serous cystadenocarcinoma Familial cancer of breast Clear cell carcinoma of kidney Sarcoma Gastric cancer Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA344116	rs_145047094	12 SubmittersRCV000034083 RCV000560928 RCV000893230 RCV001554284 RCV003924890 RCV005888917 RCV005888912 RCV005888914 RCV005888915 RCV005888916 RCV005888913
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 SubmittersRCV000034084 RCV001023250
NM_003977.4(AIP):c.550C>T (p.Gln184Ter)	SNV Germline	Chr11:67490119	Pathogenic	Somatotroph adenoma Condition: not provided	Criteria Provided Single Submitter	CA344126	rs_267606560	2 SubmittersRCV000034087 RCV003556104
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 SubmittersRCV000034088 RCV001024601 RCV001326206
NM_003977.4(AIP):c.649C>T (p.Gln217Ter)	SNV Germline	Chr11:67490319	Pathogenic	Somatotroph adenoma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA344146	rs_267606566	3 SubmittersRCV000034093 RCV003556105 RCV004018728
NM_003977.4(AIP):c.70G>T (p.Glu24Ter)	SNV Germline	Chr11:67483228	Pathogenic	Somatotroph adenoma Condition: not provided	Criteria Provided Single Submitter	CA344151	rs_267606568	2 SubmittersRCV000034095 RCV001390426
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr)	SNV Germline	Chr11:67490383	Likely pathogenic	Somatotroph adenoma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA344155	rs_267606569	3 SubmittersRCV000034096 RCV001379496 RCV004018729
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 SubmittersRCV000034104 RCV001026864 RCV001473813
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 SubmittersRCV000034108 RCV000571925 RCV000951118 RCV003952391
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 Familial isolated pituitary adenoma	Criteria Provided Multiple Submitters No Conflicts	CA344201	rs_267606579	6 SubmittersRCV000034109 RCV001852690 RCV002415456 RCV005600625
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 Familial isolated pituitary adenoma	Criteria Provided Conflicting Classifications	CA344210	rs_148986773	11 SubmittersRCV000034113 RCV000571818 RCV001357152 RCV003904890 RCV005600626
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 SubmittersRCV000034115 RCV001061414 RCV002371818 RCV004748542
NM_003977.4(AIP):c.3G>A (p.Met1Ile)	SNV Germline	Chr11:67483161	Likely pathogenic	Familial isolated pituitary adenoma	Criteria Provided Single Submitter	CA10586312	rs_886037871	1 SubmittersRCV000240114
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 SubmittersRCV000304446 RCV000568999 RCV000909790 RCV003920260
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 SubmittersRCV000272200 RCV000567882 RCV001441310 RCV003151020 RCV003967877
NM_003977.4(AIP):c.517G>A (p.Glu173Lys)	SNV Germline	Chr11:67490086	Conflicting classifications of pathogenicity	Somatotroph adenoma Condition: not provided Hereditary cancer-predisposing syndrome AIP-related disorder	Criteria Provided Conflicting Classifications	CA6140863	rs_138902236	7 SubmittersRCV000294654 RCV000733441 RCV000567733 RCV003409472
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)	SNV Germline	Chr11:67483184	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Acroleukopathy, symmetric Pituitary dependent hypercortisolism Somatotroph adenoma Condition: not provided Somatotroph adenoma	Criteria Provided Conflicting Classifications	CA6140668	rs_139459091	9 SubmittersRCV000561910 RCV000765005 RCV001054806 RCV001764674
NM_003977.4(AIP):c.561C>T (p.Asn187=)	SNV Germline	Chr11:67490130	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6140868	rs_142037029	3 SubmittersRCV000565129 RCV001499010
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 SubmittersRCV000565333 RCV000733154 RCV001554286 RCV003459374
NM_003977.4(AIP):c.619G>A (p.Ala207Thr)	SNV Germline	Chr11:67490188	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA381551218	rs_1323279729	3 SubmittersRCV000572851 RCV001326482
NM_003977.4(AIP):c.827C>T (p.Ala276Val)	SNV Germline	Chr11:67490827	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Acroleukopathy, symmetric Pituitary dependent hypercortisolism Somatotroph adenoma Condition: not provided Somatotroph adenoma	Criteria Provided Conflicting Classifications	CA6140987	rs_61741147	5 SubmittersRCV000573085 RCV000765006 RCV001202575 RCV003465251
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 SubmittersRCV000564964 RCV001040402 RCV001526825 RCV004569247
NM_003977.4(AIP):c.100-18C>T	SNV Germline	Chr11:67486988	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Pituitary adenoma 5, multiple types	Criteria Provided Conflicting Classifications	CA6140713	rs_202156895	9 SubmittersRCV000731868 RCV002259014 RCV003233033
NM_003977.4(AIP):c.345G>C (p.Leu115=)	SNV Germline	Chr11:67489332	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA224164328	rs_996404334	4 SubmittersRCV000732062 RCV002458344
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 Familial isolated pituitary adenoma	Criteria Provided Conflicting Classifications	CA6140911	rs_532170807	5 SubmittersRCV000937880 RCV001025814 RCV001294202 RCV005601637
NM_003977.4(AIP):c.159C>T (p.Ser53=)	SNV Germline	Chr11:67487065	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6140740	rs_764878127	3 SubmittersRCV001012369 RCV001418627
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	CA6140751	rs_141223463	4 SubmittersRCV001014268 RCV001043193 RCV003153884
NM_003977.4(AIP):c.218G>A (p.Trp73Ter)	SNV Germline	Chr11:67487124	Pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA381547039	rs_1591042753	1 SubmittersRCV001014681
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	CA6140786	rs_548910485	4 SubmittersRCV001019538 RCV001057031 RCV004569980
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	CA6140798	rs_150487522	4 SubmittersRCV001021731 RCV001437421 RCV004570001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys)	SNV Germline	Chr11:67490140	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Somatotroph adenoma	Criteria Provided Conflicting Classifications	CA6140871	rs_189861025	5 SubmittersRCV001024451 RCV001061657 RCV001104757
NM_003977.4(AIP):c.574G>A (p.Glu192Lys)	SNV Germline	Chr11:67490143	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6140874	rs_575347930	2 SubmittersRCV001024485 RCV001206438
NM_003977.4(AIP):c.643A>T (p.Lys215Ter)	SNV Germline	Chr11:67490212	Pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA381551389	rs_1591046113	1 SubmittersRCV001025263
NM_003977.4(AIP):c.724C>G (p.Leu242Val)	SNV Germline	Chr11:67490394	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Somatotroph adenoma	Criteria Provided Conflicting Classifications	CA6140918	rs_772782309	5 SubmittersRCV001026194 RCV001316992 RCV005601653
NM_003977.4(AIP):c.733G>A (p.Glu245Lys)	SNV Germline	Chr11:67490403	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Somatotroph adenoma Condition: not provided	Criteria Provided Conflicting Classifications	CA6140922	rs_150645662	6 SubmittersRCV001026294 RCV001105892 RCV001231533
NM_003977.4(AIP):c.822C>A (p.Ala274=)	SNV Germline	Chr11:67490822	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6140984	rs_145142121	3 SubmittersRCV001027305 RCV001395952
NM_003977.4(AIP):c.834G>A (p.Val278=)	SNV Germline	Chr11:67490834	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6140990	rs_745914221	3 SubmittersRCV001017593 RCV001435897
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	CA224165968	rs_1006697477	3 SubmittersRCV001018824 RCV001040304 RCV003461373
NM_003977.4(AIP):c.964G>A (p.Ala322Thr)	SNV Germline	Chr11:67490964	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6141012	rs_768053422	2 SubmittersRCV001019585 RCV001327266
NM_003977.4(AIP):c.974G>A (p.Arg325Gln)	SNV Germline	Chr11:67490974	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Somatotroph adenoma AIP-related disorder not specified	Criteria Provided Conflicting Classifications	CA6141016	rs_754619109	7 SubmittersRCV001019700 RCV001203294 RCV003153889 RCV004749585 RCV006265532
NM_003977.4(AIP):c.645+2T>C	SNV Germline	Chr11:67490216	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Somatotroph adenoma	Criteria Provided Conflicting Classifications	CA381551423	rs_1293512916	4 SubmittersRCV001025282 RCV001862318 RCV004796352
NM_003977.4(AIP):c.274A>G (p.Ile92Val)	SNV Germline	Chr11:67487180	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA381547421	rs_1202522544	2 SubmittersRCV001058513 RCV002436630
NM_003977.4(AIP):c.356G>A (p.Arg119Gln)	SNV Germline	Chr11:67489343	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Somatotroph adenoma not specified	Criteria Provided Conflicting Classifications	CA6140790	rs_746414951	4 SubmittersRCV001046267 RCV002451181 RCV004570154 RCV005436967
NM_003977.4(AIP):c.562C>T (p.Arg188Trp)	SNV Germline	Chr11:67490131	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Somatotroph adenoma	Criteria Provided Conflicting Classifications	CA6140869	rs_577617733	4 SubmittersRCV001060020 RCV002348437 RCV005055152
NM_003977.4(AIP):c.874C>G (p.Leu292Val)	SNV Germline	Chr11:67490874	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA6140994	rs_764465139	3 SubmittersRCV001041150 RCV002445231
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	CA475392335	rs_104895072	3 SubmittersRCV001102834 RCV001397759 RCV004032090
NM_003977.4(AIP):c.685C>T (p.Gln229Ter)	SNV Germline	Chr11:67490355	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA381551597	rs_1400972107	1 SubmittersRCV001210423
NM_003977.4(AIP):c.85C>T (p.Gln29Ter)	SNV Germline	Chr11:67483243	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA381545870	rs_969013352	1 SubmittersRCV001231929
NM_003977.4(AIP):c.787+3G>A	SNV Germline	Chr11:67490460	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA381551966	rs_1266489288	2 SubmittersRCV001243281 RCV003166520
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	CA6141006	rs_775563618	3 SubmittersRCV001294651 RCV002375339 RCV004570675
NM_003977.4(AIP):c.163G>A (p.Ala55Thr)	SNV Germline	Chr11:67487069	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA381546688	rs_764160345	2 SubmittersRCV001323242 RCV002402902
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	CA381546698	rs_1865805899	3 SubmittersRCV001322598 RCV003284193 RCV003469552
NM_003977.4(AIP):c.133G>A (p.Asp45Asn)	SNV Germline	Chr11:67487039	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA6140733	rs_574205552	3 SubmittersRCV001344275 RCV002384470
NM_003977.4(AIP):c.445A>G (p.Ile149Val)	SNV Germline	Chr11:67489432	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA381549833	rs_1865853604	2 SubmittersRCV001348867 RCV002329337
NM_003977.4(AIP):c.581A>G (p.His194Arg)	SNV Germline	Chr11:67490150	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome AIP-related disorder	Criteria Provided Conflicting Classifications	CA6140876	rs_747157774	3 SubmittersRCV001360072 RCV002357219 RCV004749668
NM_003977.4(AIP):c.952G>A (p.Glu318Lys)	SNV Germline	Chr11:67490952	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA224166066	rs_1009569366	2 SubmittersRCV001365520 RCV005572572
NM_003977.4(AIP):c.259C>T (p.Gln87Ter)	SNV Germline	Chr11:67487165	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA381547306	rs_2134251305	1 SubmittersRCV001390999
NM_003977.4(AIP):c.504G>A (p.Trp168Ter)	SNV Germline	Chr11:67490073	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381550463	rs_2134254613	2 SubmittersRCV001380180 RCV004951654
NM_003977.4(AIP):c.787+10G>A	SNV Germline	Chr11:67490467	Conflicting classifications of pathogenicity	Condition: not provided Familial isolated pituitary adenoma	Criteria Provided Conflicting Classifications	CA381551994	rs_776322323	2 SubmittersRCV001428027 RCV001543113
NM_003977.4(AIP):c.183G>A (p.Glu61=)	SNV Germline	Chr11:67487089	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA475392293	rs_2134251199	3 SubmittersRCV001471274 RCV003346574
NM_003977.4(AIP):c.630G>A (p.Lys210=)	SNV Germline	Chr11:67490199	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA224165084	rs_937672207	3 SubmittersRCV001499615 RCV002256806
NM_003977.4(AIP):c.100-6C>A	SNV Germline	Chr11:67487000	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Pituitary adenoma 5, multiple types AIP-related disorder	Criteria Provided Conflicting Classifications	CA6140720	rs_539027647	5 SubmittersRCV001521638 RCV002256817 RCV003233035 RCV003931134
NM_003977.4(AIP):c.214G>C (p.Val72Leu)	SNV Germline	Chr11:67487120	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA6140752	rs_747561252	2 SubmittersRCV001907226 RCV002425130
NM_003977.4(AIP):c.673C>T (p.Gln225Ter)	SNV Germline	Chr11:67490343	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA381551540	rs_2134255291	1 SubmittersRCV001946746
NM_003977.4(AIP):c.575A>G (p.Glu192Gly)	SNV Germline	Chr11:67490144	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA6140875	rs_542237608	3 SubmittersRCV002014527 RCV004043923
NM_003977.4(AIP):c.685C>G (p.Gln229Glu)	SNV Germline	Chr11:67490355	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA381551601	rs_1400972107	3 SubmittersRCV002042631 RCV002361377
NM_003977.4(AIP):c.553G>T (p.Glu185Ter)	SNV Germline	Chr11:67490122	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA381550781	rs_925348950	1 SubmittersRCV001934047
NM_003977.4(AIP):c.6G>A (p.Ala2=)	SNV Germline	Chr11:67483164	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA475392068	rs_1865725846	3 SubmittersRCV002132583 RCV002363651
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	CA6140857	rs_536239840	5 SubmittersRCV002255978 RCV003094256 RCV003464419
NM_003977.4(AIP):c.606C>G (p.Tyr202Ter)	SNV Germline	Chr11:67490175	Pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA381551136	rs_2495405821	1 SubmittersRCV002358357
NM_003977.4(AIP):c.793G>A (p.Val265Ile)	SNV Germline	Chr11:67490793	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6140982	rs_749988580	2 SubmittersRCV002416825 RCV003099797
NM_003977.4(AIP):c.783C>G (p.Tyr261Ter)	SNV Germline	Chr11:67490453	Pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA381551950	rs_267606576	1 SubmittersRCV002412154
NM_003977.4(AIP):c.676C>G (p.Leu226Val)	SNV Germline	Chr11:67490346	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6140908	rs_765294583	3 SubmittersRCV002369303 RCV003103328
NM_003977.4(AIP):c.889G>A (p.Ala297Thr)	SNV Germline	Chr11:67490889	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6140995	rs_373922286	2 SubmittersRCV002376033 RCV003774136
NM_003977.4(AIP):c.219G>A (p.Trp73Ter)	SNV Germline	Chr11:67487125	Pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA224163263	rs_987431392	1 SubmittersRCV002425666
NM_003977.4(AIP):c.645+4C>G	SNV Germline	Chr11:67490218	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA679494033	rs_1443349195	2 SubmittersRCV002706199 RCV004617080
NM_003977.4(AIP):c.493C>T (p.Gln165Ter)	SNV Germline	Chr11:67490062	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA381550390	rs_2495405101	1 SubmittersRCV002857711
NM_003977.4(AIP):c.469-3C>T	SNV Germline	Chr11:67490035	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2582341883	rs_2495404901	2 SubmittersRCV003341905 RCV003720852
NM_003977.4(AIP):c.427C>T (p.Gln143Ter)	SNV Germline	Chr11:67489414	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA381549700	rs_750938556	1 SubmittersRCV003557618
NM_003977.4(AIP):c.376C>T (p.Gln126Ter)	SNV Germline	Chr11:67489363	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381549404	rs_1459480763	2 SubmittersRCV003714709 RCV004950592
NM_003977.4(AIP):c.978G>T (p.Gly326=)	SNV Germline	Chr11:67490978	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA475509757	rs_1407242364	2 SubmittersRCV004516398 RCV005100452
NM_003977.4(AIP):c.279+1G>A	SNV Germline	Chr11:67487186	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005083079 RCV005836754
NM_003977.4(AIP):c.745G>T (p.Glu249Ter)	SNV Germline	Chr11:67490415	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005127941
NM_003977.4(AIP):c.1A>G (p.Met1Val)	SNV Germline	Chr11:67483159	Likely pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005338674
NM_003977.4(AIP):c.736G>T (p.Glu246Ter)	SNV Germline	Chr11:67490406	Pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005833956
NM_003977.4(AIP):c.609C>A (p.Tyr203Ter)	SNV Germline	Chr11:67490178	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006264834
NM_003977.4(AIP):c.788-1G>C	SNV Germline	Chr11:67490787	Likely pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006403379
NM_003977.4(AIP):c.99+1G>A	SNV Germline	Chr11:67483258	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006476014
NM_003977.4(AIP):c.99+1G>T	SNV Germline	Chr11:67483258	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006524325

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 SubmittersRCV000005163 RCV000508640 RCV001021869 RCV003555921

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 SubmittersRCV000005166 RCV001018873 RCV001213277

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 SubmittersRCV000005170 RCV000034106 RCV003555922

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

16 SubmittersRCV000005171 RCV000439236 RCV000508590 RCV000571906 RCV000735427 RCV000766368 RCV004748499

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

9 SubmittersRCV000034063 RCV000563699 RCV000897518 RCV003894847

NM_003977.4(AIP):c.241C>T (p.Arg81Ter)

SNV
Germline

Chr11:67487147

Pathogenic

Somatotroph adenoma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344075

rs_267606541

5 SubmittersRCV000034066 RCV001852689 RCV004619192

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 SubmittersRCV000034075 RCV001021265 RCV001052633

NM_003977.4(AIP):c.424C>T (p.Gln142Ter)

SNV
Germline

Chr11:67489411

Pathogenic

Somatotroph adenoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA344105

rs_267606552

2 SubmittersRCV000034078 RCV005831547

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
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Clear cell carcinoma of kidney
Sarcoma
Gastric cancer
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA344116

rs_145047094

12 SubmittersRCV000034083 RCV000560928 RCV000893230 RCV001554284 RCV003924890 RCV005888917 RCV005888912 RCV005888914 RCV005888915 RCV005888916 RCV005888913

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 SubmittersRCV000034084 RCV001023250

NM_003977.4(AIP):c.550C>T (p.Gln184Ter)

SNV
Germline

Chr11:67490119

Pathogenic

Somatotroph adenoma
Condition: not provided

Criteria Provided
Single Submitter

CA344126

rs_267606560

2 SubmittersRCV000034087 RCV003556104

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 SubmittersRCV000034088 RCV001024601 RCV001326206

NM_003977.4(AIP):c.649C>T (p.Gln217Ter)

SNV
Germline

Chr11:67490319

Pathogenic

Somatotroph adenoma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344146

rs_267606566

3 SubmittersRCV000034093 RCV003556105 RCV004018728

NM_003977.4(AIP):c.70G>T (p.Glu24Ter)

SNV
Germline

Chr11:67483228

Pathogenic

Somatotroph adenoma
Condition: not provided

Criteria Provided
Single Submitter

CA344151

rs_267606568

2 SubmittersRCV000034095 RCV001390426

NM_003977.4(AIP):c.713G>A (p.Cys238Tyr)

SNV
Germline

Chr11:67490383

Likely pathogenic

Somatotroph adenoma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344155

rs_267606569

3 SubmittersRCV000034096 RCV001379496 RCV004018729

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 SubmittersRCV000034104 RCV001026864 RCV001473813

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 SubmittersRCV000034108 RCV000571925 RCV000951118 RCV003952391

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
Familial isolated pituitary adenoma

Criteria Provided
Multiple Submitters
No Conflicts

CA344201

rs_267606579

6 SubmittersRCV000034109 RCV001852690 RCV002415456 RCV005600625

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
Familial isolated pituitary adenoma

Criteria Provided
Conflicting Classifications

CA344210

rs_148986773

11 SubmittersRCV000034113 RCV000571818 RCV001357152 RCV003904890 RCV005600626

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 SubmittersRCV000034115 RCV001061414 RCV002371818 RCV004748542

NM_003977.4(AIP):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:67483161

Likely pathogenic

Familial isolated pituitary adenoma

Criteria Provided
Single Submitter

CA10586312

rs_886037871

1 SubmittersRCV000240114

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 SubmittersRCV000304446 RCV000568999 RCV000909790 RCV003920260

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 SubmittersRCV000272200 RCV000567882 RCV001441310 RCV003151020 RCV003967877

NM_003977.4(AIP):c.517G>A (p.Glu173Lys)

SNV
Germline

Chr11:67490086

Conflicting classifications of pathogenicity

Somatotroph adenoma
Condition: not provided
Hereditary cancer-predisposing syndrome
AIP-related disorder

Criteria Provided
Conflicting Classifications

CA6140863

rs_138902236

7 SubmittersRCV000294654 RCV000733441 RCV000567733 RCV003409472

NM_003977.4(AIP):c.26G>A (p.Arg9Gln)

SNV
Germline

Chr11:67483184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Acroleukopathy, symmetric
Pituitary dependent hypercortisolism
Somatotroph adenoma
Condition: not provided
Somatotroph adenoma

Criteria Provided
Conflicting Classifications

CA6140668

rs_139459091

9 SubmittersRCV000561910 RCV000765005 RCV001054806 RCV001764674

NM_003977.4(AIP):c.561C>T (p.Asn187=)

SNV
Germline

Chr11:67490130

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6140868

rs_142037029

3 SubmittersRCV000565129 RCV001499010

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 SubmittersRCV000565333 RCV000733154 RCV001554286 RCV003459374

NM_003977.4(AIP):c.619G>A (p.Ala207Thr)

SNV
Germline

Chr11:67490188

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA381551218

rs_1323279729

3 SubmittersRCV000572851 RCV001326482

NM_003977.4(AIP):c.827C>T (p.Ala276Val)

SNV
Germline

Chr11:67490827

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Acroleukopathy, symmetric
Pituitary dependent hypercortisolism
Somatotroph adenoma
Condition: not provided
Somatotroph adenoma

Criteria Provided
Conflicting Classifications

CA6140987

rs_61741147

5 SubmittersRCV000573085 RCV000765006 RCV001202575 RCV003465251

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 SubmittersRCV000564964 RCV001040402 RCV001526825 RCV004569247

NM_003977.4(AIP):c.100-18C>T

SNV
Germline

Chr11:67486988

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Pituitary adenoma 5, multiple types

Criteria Provided
Conflicting Classifications

CA6140713

rs_202156895

9 SubmittersRCV000731868 RCV002259014 RCV003233033

NM_003977.4(AIP):c.345G>C (p.Leu115=)

SNV
Germline

Chr11:67489332

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA224164328

rs_996404334

4 SubmittersRCV000732062 RCV002458344

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
Familial isolated pituitary adenoma

Criteria Provided
Conflicting Classifications

CA6140911

rs_532170807

5 SubmittersRCV000937880 RCV001025814 RCV001294202 RCV005601637

NM_003977.4(AIP):c.159C>T (p.Ser53=)

SNV
Germline

Chr11:67487065

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6140740

rs_764878127

3 SubmittersRCV001012369 RCV001418627

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

CA6140751

rs_141223463

4 SubmittersRCV001014268 RCV001043193 RCV003153884

NM_003977.4(AIP):c.218G>A (p.Trp73Ter)

SNV
Germline

Chr11:67487124

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA381547039

rs_1591042753

1 SubmittersRCV001014681

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

CA6140786

rs_548910485

4 SubmittersRCV001019538 RCV001057031 RCV004569980

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

CA6140798

rs_150487522

4 SubmittersRCV001021731 RCV001437421 RCV004570001

NM_003977.4(AIP):c.571C>T (p.Arg191Cys)

SNV
Germline

Chr11:67490140

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Somatotroph adenoma

Criteria Provided
Conflicting Classifications

CA6140871

rs_189861025

5 SubmittersRCV001024451 RCV001061657 RCV001104757

NM_003977.4(AIP):c.574G>A (p.Glu192Lys)

SNV
Germline

Chr11:67490143

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6140874

rs_575347930

2 SubmittersRCV001024485 RCV001206438

NM_003977.4(AIP):c.643A>T (p.Lys215Ter)

SNV
Germline

Chr11:67490212

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA381551389

rs_1591046113

1 SubmittersRCV001025263

NM_003977.4(AIP):c.724C>G (p.Leu242Val)

SNV
Germline

Chr11:67490394

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Somatotroph adenoma

Criteria Provided
Conflicting Classifications

CA6140918

rs_772782309

5 SubmittersRCV001026194 RCV001316992 RCV005601653

NM_003977.4(AIP):c.733G>A (p.Glu245Lys)

SNV
Germline

Chr11:67490403

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Somatotroph adenoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6140922

rs_150645662

6 SubmittersRCV001026294 RCV001105892 RCV001231533

NM_003977.4(AIP):c.822C>A (p.Ala274=)

SNV
Germline

Chr11:67490822

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6140984

rs_145142121

3 SubmittersRCV001027305 RCV001395952

NM_003977.4(AIP):c.834G>A (p.Val278=)

SNV
Germline

Chr11:67490834

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6140990

rs_745914221

3 SubmittersRCV001017593 RCV001435897

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

CA224165968

rs_1006697477

3 SubmittersRCV001018824 RCV001040304 RCV003461373

NM_003977.4(AIP):c.964G>A (p.Ala322Thr)

SNV
Germline

Chr11:67490964

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6141012

rs_768053422

2 SubmittersRCV001019585 RCV001327266

NM_003977.4(AIP):c.974G>A (p.Arg325Gln)

SNV
Germline

Chr11:67490974

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Somatotroph adenoma
AIP-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6141016

rs_754619109

7 SubmittersRCV001019700 RCV001203294 RCV003153889 RCV004749585 RCV006265532

NM_003977.4(AIP):c.645+2T>C

SNV
Germline

Chr11:67490216

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Somatotroph adenoma

Criteria Provided
Conflicting Classifications

CA381551423

rs_1293512916

4 SubmittersRCV001025282 RCV001862318 RCV004796352

NM_003977.4(AIP):c.274A>G (p.Ile92Val)

SNV
Germline

Chr11:67487180

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA381547421

rs_1202522544

2 SubmittersRCV001058513 RCV002436630

NM_003977.4(AIP):c.356G>A (p.Arg119Gln)

SNV
Germline

Chr11:67489343

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Somatotroph adenoma
not specified

Criteria Provided
Conflicting Classifications

CA6140790

rs_746414951

4 SubmittersRCV001046267 RCV002451181 RCV004570154 RCV005436967

NM_003977.4(AIP):c.562C>T (p.Arg188Trp)

SNV
Germline

Chr11:67490131

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Somatotroph adenoma

Criteria Provided
Conflicting Classifications

CA6140869

rs_577617733

4 SubmittersRCV001060020 RCV002348437 RCV005055152

NM_003977.4(AIP):c.874C>G (p.Leu292Val)

SNV
Germline

Chr11:67490874

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6140994

rs_764465139

3 SubmittersRCV001041150 RCV002445231

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

CA475392335

rs_104895072

3 SubmittersRCV001102834 RCV001397759 RCV004032090

NM_003977.4(AIP):c.685C>T (p.Gln229Ter)

SNV
Germline

Chr11:67490355

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA381551597

rs_1400972107

1 SubmittersRCV001210423

NM_003977.4(AIP):c.85C>T (p.Gln29Ter)

SNV
Germline

Chr11:67483243

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA381545870

rs_969013352

1 SubmittersRCV001231929

NM_003977.4(AIP):c.787+3G>A

SNV
Germline

Chr11:67490460

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA381551966

rs_1266489288

2 SubmittersRCV001243281 RCV003166520

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

CA6141006

rs_775563618

3 SubmittersRCV001294651 RCV002375339 RCV004570675

NM_003977.4(AIP):c.163G>A (p.Ala55Thr)

SNV
Germline

Chr11:67487069

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA381546688

rs_764160345

2 SubmittersRCV001323242 RCV002402902

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

CA381546698

rs_1865805899

3 SubmittersRCV001322598 RCV003284193 RCV003469552

NM_003977.4(AIP):c.133G>A (p.Asp45Asn)

SNV
Germline

Chr11:67487039

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6140733

rs_574205552

3 SubmittersRCV001344275 RCV002384470

NM_003977.4(AIP):c.445A>G (p.Ile149Val)

SNV
Germline

Chr11:67489432

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA381549833

rs_1865853604

2 SubmittersRCV001348867 RCV002329337

NM_003977.4(AIP):c.581A>G (p.His194Arg)

SNV
Germline

Chr11:67490150

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
AIP-related disorder

Criteria Provided
Conflicting Classifications

CA6140876

rs_747157774

3 SubmittersRCV001360072 RCV002357219 RCV004749668

NM_003977.4(AIP):c.952G>A (p.Glu318Lys)

SNV
Germline

Chr11:67490952

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA224166066

rs_1009569366

2 SubmittersRCV001365520 RCV005572572

NM_003977.4(AIP):c.259C>T (p.Gln87Ter)

SNV
Germline

Chr11:67487165

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA381547306

rs_2134251305

1 SubmittersRCV001390999

NM_003977.4(AIP):c.504G>A (p.Trp168Ter)

SNV
Germline

Chr11:67490073

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381550463

rs_2134254613

2 SubmittersRCV001380180 RCV004951654

NM_003977.4(AIP):c.787+10G>A

SNV
Germline

Chr11:67490467

Conflicting classifications of pathogenicity

Condition: not provided
Familial isolated pituitary adenoma

Criteria Provided
Conflicting Classifications

CA381551994

rs_776322323

2 SubmittersRCV001428027 RCV001543113

NM_003977.4(AIP):c.183G>A (p.Glu61=)

SNV
Germline

Chr11:67487089

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA475392293

rs_2134251199

3 SubmittersRCV001471274 RCV003346574

NM_003977.4(AIP):c.630G>A (p.Lys210=)

SNV
Germline

Chr11:67490199

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA224165084

rs_937672207

3 SubmittersRCV001499615 RCV002256806

NM_003977.4(AIP):c.100-6C>A

SNV
Germline

Chr11:67487000

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Pituitary adenoma 5, multiple types
AIP-related disorder

Criteria Provided
Conflicting Classifications

CA6140720

rs_539027647

5 SubmittersRCV001521638 RCV002256817 RCV003233035 RCV003931134

NM_003977.4(AIP):c.214G>C (p.Val72Leu)

SNV
Germline

Chr11:67487120

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6140752

rs_747561252

2 SubmittersRCV001907226 RCV002425130

NM_003977.4(AIP):c.673C>T (p.Gln225Ter)

SNV
Germline

Chr11:67490343

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA381551540

rs_2134255291

1 SubmittersRCV001946746

NM_003977.4(AIP):c.575A>G (p.Glu192Gly)

SNV
Germline

Chr11:67490144

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6140875

rs_542237608

3 SubmittersRCV002014527 RCV004043923

NM_003977.4(AIP):c.685C>G (p.Gln229Glu)

SNV
Germline

Chr11:67490355

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA381551601

rs_1400972107

3 SubmittersRCV002042631 RCV002361377

NM_003977.4(AIP):c.553G>T (p.Glu185Ter)

SNV
Germline

Chr11:67490122

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA381550781

rs_925348950

1 SubmittersRCV001934047

NM_003977.4(AIP):c.6G>A (p.Ala2=)

SNV
Germline

Chr11:67483164

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA475392068

rs_1865725846

3 SubmittersRCV002132583 RCV002363651

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

CA6140857

rs_536239840

5 SubmittersRCV002255978 RCV003094256 RCV003464419

NM_003977.4(AIP):c.606C>G (p.Tyr202Ter)

SNV
Germline

Chr11:67490175

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA381551136

rs_2495405821

1 SubmittersRCV002358357

NM_003977.4(AIP):c.793G>A (p.Val265Ile)

SNV
Germline

Chr11:67490793

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6140982

rs_749988580

2 SubmittersRCV002416825 RCV003099797

NM_003977.4(AIP):c.783C>G (p.Tyr261Ter)

SNV
Germline

Chr11:67490453

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA381551950

rs_267606576

1 SubmittersRCV002412154

NM_003977.4(AIP):c.676C>G (p.Leu226Val)

SNV
Germline

Chr11:67490346

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6140908

rs_765294583

3 SubmittersRCV002369303 RCV003103328

NM_003977.4(AIP):c.889G>A (p.Ala297Thr)

SNV
Germline

Chr11:67490889

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6140995

rs_373922286

2 SubmittersRCV002376033 RCV003774136

NM_003977.4(AIP):c.219G>A (p.Trp73Ter)

SNV
Germline

Chr11:67487125

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA224163263

rs_987431392

1 SubmittersRCV002425666

NM_003977.4(AIP):c.645+4C>G

SNV
Germline

Chr11:67490218

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA679494033

rs_1443349195

2 SubmittersRCV002706199 RCV004617080

NM_003977.4(AIP):c.493C>T (p.Gln165Ter)

SNV
Germline

Chr11:67490062

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA381550390

rs_2495405101

1 SubmittersRCV002857711

NM_003977.4(AIP):c.469-3C>T

SNV
Germline

Chr11:67490035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2582341883

rs_2495404901

2 SubmittersRCV003341905 RCV003720852

NM_003977.4(AIP):c.427C>T (p.Gln143Ter)

SNV
Germline

Chr11:67489414

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA381549700

rs_750938556

1 SubmittersRCV003557618

NM_003977.4(AIP):c.376C>T (p.Gln126Ter)

SNV
Germline

Chr11:67489363

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381549404

rs_1459480763

2 SubmittersRCV003714709 RCV004950592

NM_003977.4(AIP):c.978G>T (p.Gly326=)

SNV
Germline

Chr11:67490978

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA475509757

rs_1407242364

2 SubmittersRCV004516398 RCV005100452

NM_003977.4(AIP):c.279+1G>A

SNV
Germline

Chr11:67487186

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005083079 RCV005836754

NM_003977.4(AIP):c.745G>T (p.Glu249Ter)

SNV
Germline

Chr11:67490415

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005127941

NM_003977.4(AIP):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:67483159

Likely pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005338674

NM_003977.4(AIP):c.736G>T (p.Glu246Ter)

SNV
Germline

Chr11:67490406

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005833956

NM_003977.4(AIP):c.609C>A (p.Tyr203Ter)

SNV
Germline

Chr11:67490178

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006264834

NM_003977.4(AIP):c.788-1G>C

SNV
Germline

Chr11:67490787

Likely pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006403379

NM_003977.4(AIP):c.99+1G>A

SNV
Germline

Chr11:67483258

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006476014

NM_003977.4(AIP):c.99+1G>T

SNV
Germline

Chr11:67483258

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006524325