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Multiple Endocrine Neoplasia (D009377)
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Multiple Endocrine Neoplasia Type 1 (D018761)

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..expandMultiple Endocrine Neoplasia Type 1 (D018761)
..expandMultiple Endocrine Neoplasia Type 2a (D018813) Child1
..expandMultiple Endocrine Neoplasia Type 2b (D018814) Child1
..expandMultiple Endocrine Neoplasia, Type IV (C567059)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8254
Name:Multiple Endocrine Neoplasia Type 1
Definition:A form of multiple endocrine neoplasia that is characterized by the combined occurrence of tumors in the PARATHYROID GLANDS, the PITUITARY GLAND, and the PANCREATIC ISLETS. The resulting clinical signs include HYPERPARATHYROIDISM; HYPERCALCEMIA; HYPERPROLACTINEMIA; CUSHING DISEASE; GASTRINOMA; and ZOLLINGER-ELLISON SYNDROME. This disease is due to loss-of-function of the MEN1 gene, a tumor suppressor gene (GENES, TUMOR SUPPRESSOR) on CHROMOSOME 11 (Locus: 11q13).
Alternative IDs:DO:DOID:10017|OMIM:131100
ParentIDs:MESH:D009377
TreeNumbers:C04.588.322.400.500 |C04.651.600.500 |C04.700.630.500 |C16.320.700.630.500 |C19.344.400.500
Synonyms:ENDOCRINE ADENOMATOSIS, MULTIPLE |MEA I |MEN1 |MEN I |Multiple Endocrine Neoplasia Type I |MULTIPLE ENDOCRINE NEOPLASIA, TYPE I |Multiple Endocrine Neoplasms Type 1 |Neoplasia, Multiple Endocrine Type 1 |Neoplasms, Multiple Endocrine Type 1 |Neoplasms, Multiple E
Slim Mappings:Cancer|Endocrine system disease|Genetic disease (inborn)
Reference: MedGen: D018761
MeSH: D018761
OMIM: 131100;
MSeqDR LSDB:  
Genes: MEN1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000820Abnormality of the thyroid gland
3 HP:0009720Adenoma sebaceum
4 HP:0008256Adrenocortical adenoma
5 HP:0000957Cafe-au-lait spot
6 HP:0100570Carcinoid tumor
7 HP:0007449Confetti-like hypopigmented macules
8 HP:0002014Diarrhea
9 HP:0100633Esophagitis
10 HP:0030404Glucagonoma
11 HP:0000845Growth hormone excess
12 HP:0003072Hypercalcemia
13 HP:0001943Hypoglycemia
14 HP:0003118Increased circulating cortisol level
15 HP:0012197Insulinoma
16 HP:0008261Pancreatic islet cell adenoma
17 HP:0002897Parathyroid adenoma
18 HP:0004398Peptic ulcer
19 HP:0002893Pituitary adenoma
20 HP:0006767Pituitary prolactin cell adenoma
21 HP:0040278Prolactinoma
22 HP:0001031Subcutaneous lipoma
23 HP:0002044Zollinger-Ellison syndrome
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000051.4(ATM):c.7381C>A (p.Arg2461Ser)472ATMUncertain significance-1RCV003328120; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211108201014108201014-
NM_024529.5(CDC73):c.70G>T (p.Glu24Ter)79577CDC73Likely pathogenic-1RCV003233053; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:6521193091400193091400-
NC_000011.10:g.(?_64803514)_(64810132_?)del4221MEN1Pathogenic-1RCV000471021; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457098664577604-C0025267 131100 Multiple endocrine neoplasia, type 1;
NC_000011.10:g.(?_64803514)_(64804816_?)del4221MEN1Pathogenic-1RCV000456206; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457098664572288-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_000244.3(MEN1):c.1366_*820del1303 (p.Val456_Ter(616_?)(?))4221MEN1Pathogenic-1RCV000694224; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645709866457228811:g.64570986_64571084del-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.*794G>A4221MEN1Benign/Likely benign117705251RCV000323655|RCV000380647; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502116457101264571012NC_000011.9:g.64571012C>TClinGen:CA10638984C0020502 Hyperparathyroidism;
NM_001370259.2(MEN1):c.*693T>C4221MEN1Uncertain significance1229690026RCV001103229|RCV001103228; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645711136457111311:g.64571113A>G-
NM_001370259.2(MEN1):c.*470A>G4221MEN1Conflicting interpretations of pathogenicity778272737RCV000302380|RCV000359433|RCV000736006|RCV002248514; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0007052,MedGen:C4538355,OMIM:102200, Orphanet:314777, Orphanet:963|MedGen:CN16937411645713366457133611:g.64571336T>CClinGen:CA10635265C0020502 Hyperparathyroidism;
NM_001370259.2(MEN1):c.*438C>T4221MEN1Uncertain significance886048474RCV000305835|RCV000399525; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645713686457136811:g.64571368G>AClinGen:CA10639624C0020502 Hyperparathyroidism;
NM_001370259.2(MEN1):c.*400G>A4221MEN1Uncertain significance1351825181RCV001105142|RCV001105141; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645714066457140611:g.64571406C>T-
NM_001370259.2(MEN1):c.*392G>A4221MEN1Uncertain significance886048475RCV000271312|RCV000363607; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645714146457141411:g.64571414C>TClinGen:CA10631161C0020502 Hyperparathyroidism;
NM_001370259.2(MEN1):c.*373G>C4221MEN1Uncertain significance886048476RCV000328807|RCV000367135; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645714336457143311:g.64571433C>GClinGen:CA10639630C0020502 Hyperparathyroidism;
NM_001370259.2(MEN1):c.*341C>G4221MEN1Uncertain significance892949876RCV001105143|RCV001105144; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C002050211645714656457146511:g.64571465G>C-
NM_001370259.2(MEN1):c.*307T>G4221MEN1Benign/Likely benign1804848RCV000278044|RCV000389312|RCV001582939; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN51720211645714996457149911:g.64571499A>CClinGen:CA10638988C0020502 Hyperparathyroidism;
NM_001370259.2(MEN1):c.*302C>T4221MEN1Benign/Likely benign1804849RCV000317316|RCV000374227|RCV001612967; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645715046457150411:g.64571504G>AClinGen:CA10631163C0020502 Hyperparathyroidism;
NM_001370259.2(MEN1):c.*272T>C4221MEN1Uncertain significance563783609RCV000282016|RCV000339408; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C002050211645715346457153411:g.64571534A>GClinGen:CA10631164C0020502 Hyperparathyroidism;
NM_001370259.2(MEN1):c.*245C>T4221MEN1Uncertain significance1941463518RCV001106270|RCV001106271; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C002050211645715616457156111:g.64571561G>A-
NM_001370259.2(MEN1):c.*185C>T4221MEN1Benign/Likely benign111895237RCV000285411|RCV000398124; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C002050211645716216457162111:g.64571621G>AClinGen:CA10631169C0020502 Hyperparathyroidism;
NM_001370259.2(MEN1):c.1351-2_*132del4221MEN1Pathogenic1565634591RCV000704250; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645716746457229011:g.64571674_64571772del-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.*126C>T4221MEN1Conflicting interpretations of pathogenicity138595686RCV001108501|RCV001108502|RCV001615115; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645716806457168011:g.64571680G>A-
NM_001370259.2(MEN1):c.*104C>T4221MEN1Uncertain significance886048477RCV000342836|RCV000398139; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C002050211645717026457170211:g.64571702G>AClinGen:CA10639636C0020502 Hyperparathyroidism;
NM_001370259.2(MEN1):c.*89G>A4221MEN1Uncertain significance886048478RCV000308171|RCV000365188; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645717176457171711:g.64571717C>TClinGen:CA10631171C0020502 Hyperparathyroidism;
NC_000011.10:g.(?_64804324)_(64810716_?)del4221MEN1Pathogenic-1RCV000811348; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457179664578188-
NC_000011.9:g.(?_64571796)_(64572298_?)del4221MEN1Pathogenic-1RCV001963093; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457179664572298-1-
NC_000011.10:g.(?_64804334)_(64810716_?)del4221MEN1Pathogenic-1RCV001033318; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457180664578188-1-
NC_000011.10:g.(?_64804334)_(64810716_?)dup4221MEN1Uncertain significance-1RCV001033615; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457180664578188-1-
NM_001370259.2(MEN1):c.1828C>T (p.Leu610Phe)4221MEN1Uncertain significance1941484511RCV001312931|RCV002411998; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645718116457181164571811-
NM_001370259.2(MEN1):c.1826G>T (p.Gly609Val)4221MEN1Likely benign1186858249RCV000632145; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718136457181311:g.64571813C>AClinGen:CA381177026C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1822A>G (p.Lys608Glu)4221MEN1Uncertain significance2136076826RCV002407246|RCV002033633; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718176457181764571817-
NM_001370259.2(MEN1):c.1821C>T (p.Arg607=)4221MEN1Likely benign2136076868RCV002095002|RCV002409487; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645718186457181864571818-
NM_001370259.2(MEN1):c.1819C>T (p.Arg607Cys)4221MEN1Uncertain significance770686655RCV001306174; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718206457182064571820-
NM_001370259.2(MEN1):c.1818G>A (p.Gln606=)4221MEN1Likely benign-1RCV002591243; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457182164571821-
NM_001370259.2(MEN1):c.1814G>A (p.Arg605Gln)4221MEN1Uncertain significance1555163002RCV001036536; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718256457182511:g.64571825C>T-
NM_001370259.2(MEN1):c.1814G>T (p.Arg605Leu)4221MEN1Uncertain significance1555163002RCV001209609; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718256457182511:g.64571825C>A-
NM_001370259.2(MEN1):c.1813C>G (p.Arg605Gly)4221MEN1Uncertain significance2136077141RCV001890050; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718266457182664571826-
NM_001370259.2(MEN1):c.1812G>C (p.Lys604Asn)4221MEN1Uncertain significance-1RCV003045046; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457182764571827NC_000011.9:g.64571827C>G-
NM_001370259.2(MEN1):c.1806C>T (p.Phe602=)4221MEN1Likely benign1060503794RCV001409455|RCV003380582; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457183364571833NC_000011.9:g.64571833G>AClinGen:CA16613659C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1805dup (p.Leu603fs)4221MEN1Uncertain significance1941486297RCV001227670; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718336457183411:g.64571833_64571834insA-
NM_001370259.2(MEN1):c.1802C>G (p.Ser601Cys)4221MEN1Uncertain significance-1RCV002298107; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718376457183764571837-
NM_001370259.2(MEN1):c.1801T>C (p.Ser601Pro)4221MEN1Uncertain significance1941486843RCV001312354; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718386457183864571838-
NM_001370259.2(MEN1):c.1800_1801del (p.Ser601fs)4221MEN1Uncertain significance-1RCV002824412; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457183864571839NC_000011.9:g.64571839_64571840del-
NM_001370259.2(MEN1):c.1800G>T (p.Leu600=)4221MEN1Likely benign148825200RCV000542760|RCV000611916|RCV002413456; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457183964571839NC_000011.9:g.64571839C>AClinGen:CA060968C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1800G>C (p.Leu600=)4221MEN1Likely benign-1RCV002710753; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457183964571839-
NM_001370259.2(MEN1):c.1800G>A (p.Leu600=)4221MEN1Likely benign-1RCV002833395; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457183964571839-
NM_001370259.2(MEN1):c.1798_1799del (p.Leu600fs)4221MEN1Uncertain significance1555163017RCV000530307; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718406457184111:g.64571840_64571841delClinGen:CA658656128C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1798C>T (p.Leu600=)4221MEN1Likely benign2136077489RCV001465129; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718416457184164571841-
NM_001370259.2(MEN1):c.1797T>C (p.Thr599=)4221MEN1Likely benign2136077544RCV001492126; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718426457184264571842-
NM_001370259.2(MEN1):c.1795A>G (p.Thr599Ala)4221MEN1Uncertain significance1941487702RCV001305554; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718446457184464571844-
NM_001370259.2(MEN1):c.1794C>T (p.Tyr598=)4221MEN1Likely benign2136077605RCV001434778; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718456457184564571845-
NM_001370259.2(MEN1):c.1790A>C (p.Asp597Ala)4221MEN1Uncertain significance-1RCV002576214; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457184964571849NC_000011.9:g.64571849T>G-
NM_001370259.2(MEN1):c.1787G>C (p.Ser596Thr)4221MEN1Uncertain significance2136077666RCV001928626; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718526457185264571852-
NM_001370259.2(MEN1):c.1784C>G (p.Pro595Arg)4221MEN1Uncertain significance2136077699RCV001904449; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718556457185564571855-
NM_001370259.2(MEN1):c.1783C>T (p.Pro595Ser)4221MEN1Uncertain significance2136077722RCV002019268; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718566457185664571856-
NM_001370259.2(MEN1):c.1780A>G (p.Thr594Ala)4221MEN1Uncertain significance1941488490RCV001263014; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718596457185911:g.64571859T>C-
NM_001370259.2(MEN1):c.1780A>C (p.Thr594Pro)4221MEN1Uncertain significance-1RCV003029670; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457185964571859NC_000011.9:g.64571859T>G-
NM_001370259.2(MEN1):c.1779C>T (p.Ser593=)4221MEN1Likely benign1157546350RCV000559082|RCV003362827; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645718606457186011:g.64571860G>AClinGen:CA475163001C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1777T>C (p.Ser593Pro)4221MEN1Conflicting interpretations of pathogenicity1411766225RCV000697463|RCV003303155; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457186264571862NC_000011.9:g.64571862A>G-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1775T>C (p.Val592Ala)4221MEN1Uncertain significance1941489030RCV002036638|RCV002398129; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645718646457186464571864-
NM_001370259.2(MEN1):c.1770G>C (p.Gln590His)4221MEN1Uncertain significance1470506250RCV002039601; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718696457186964571869-
NM_001370259.2(MEN1):c.1762AAG[1] (p.Lys589del)4221MEN1Uncertain significance1303070443RCV000694676|RCV002397414; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457187264571874NC_000011.9:g.64571873TTC[1]-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1764G>A (p.Lys588=)4221MEN1Conflicting interpretations of pathogenicity373669288RCV000199306|RCV000400551|RCV000311483|RCV000566719; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C116457187564571875NC_000011.9:g.64571875C>TClinGen:CA060947C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1761G>A (p.Met587Ile)4221MEN1Uncertain significance1555163058RCV000546677|RCV003159747; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457187864571878NC_000011.9:g.64571878C>TClinGen:CA381177410C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1758G>A (p.Gln586=)4221MEN1Likely benign759563305RCV001419347; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457188164571881NC_000011.9:g.64571881C>TClinGen:CA060941C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)4221MEN1Likely pathogenic-1RCV003028068; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457188364571883NC_000011.9:g.64571883G>A-
NM_001370259.2(MEN1):c.1755G>A (p.Val585=)4221MEN1Likely benign2136078442RCV001498116|RCV003382613; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645718846457188464571884-
NM_001370259.2(MEN1):c.1754T>G (p.Val585Gly)4221MEN1Uncertain significance1592629417RCV000816259; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718856457188511:g.64571885A>C-
NM_001370259.2(MEN1):c.1754T>A (p.Val585Glu)4221MEN1Uncertain significance1592629417RCV001341529; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718856457188564571885-
NM_001370259.2(MEN1):c.1749G>C (p.Ser583=)4221MEN1Likely benign765105348RCV001012972|RCV001428702; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457189064571890NC_000011.9:g.64571890C>GClinGen:CA060934C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1749G>T (p.Ser583=)4221MEN1Likely benign765105348RCV001502503; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645718906457189064571890-
NM_001370259.2(MEN1):c.1740G>C (p.Thr580=)4221MEN1Likely benign1114167530RCV000490893|RCV001460396; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457189964571899NC_000011.9:g.64571899C>GClinGen:CA475163136C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1740G>A (p.Thr580=)4221MEN1Likely benign1114167530RCV001412596|RCV002400106; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645718996457189911:g.64571899C>T-
NM_001370259.2(MEN1):c.1739del (p.Thr580fs)4221MEN1Likely pathogenic864622617RCV000203927; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719006457190011:g.64571900_64571900delClinGen:CA348208C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1739C>T (p.Thr580Met)4221MEN1Uncertain significance1941492703RCV001212417; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719006457190011:g.64571900G>A-
NM_001370259.2(MEN1):c.1735C>T (p.Leu579Phe)4221MEN1Uncertain significance1328296968RCV001058147|RCV002402420; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645719046457190411:g.64571904G>A-
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)4221MEN1Likely pathogenic-1RCV003062399; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457190764571907NC_000011.9:g.64571907G>A-
NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro)4221MEN1Conflicting interpretations of pathogenicity794728634RCV000182428|RCV000491331|RCV001852316; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457190964571909NC_000011.9:g.64571909A>GClinGen:CA009298C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1729C>T (p.Leu577=)4221MEN1Likely benign762744342RCV000928594|RCV002409200; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645719106457191011:g.64571910G>A-
NM_001370259.2(MEN1):c.1727A>C (p.Lys576Thr)4221MEN1Uncertain significance1941495030RCV001229136; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719126457191211:g.64571912T>G-
NM_001370259.2(MEN1):c.1725C>G (p.Ile575Met)4221MEN1Uncertain significance1941495298RCV001956774; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719146457191464571914-
NM_001370259.2(MEN1):c.1720G>A (p.Ala574Thr)4221MEN1Uncertain significance-1RCV002294789; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719196457191964571919-
NM_001370259.2(MEN1):c.1718G>A (p.Ser573Asn)4221MEN1Uncertain significance1257993399RCV001212802; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719216457192111:g.64571921C>T-
NM_001370259.2(MEN1):c.1713C>T (p.Asn571=)4221MEN1Likely benign1347492310RCV002190054; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719266457192664571926-
NM_001370259.2(MEN1):c.1705A>G (p.Lys569Glu)4221MEN1Uncertain significance-1RCV003010012; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457193464571934NC_000011.9:g.64571934T>C-
NM_001370259.2(MEN1):c.1703C>T (p.Thr568Ile)4221MEN1Conflicting interpretations of pathogenicity751839903RCV001052604|RCV002400303; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645719366457193611:g.64571936G>A-
NM_001370259.2(MEN1):c.1703C>G (p.Thr568Ser)4221MEN1Uncertain significance751839903RCV001342592; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719366457193664571936-
NM_001370259.2(MEN1):c.1701C>T (p.Ala567=)4221MEN1Conflicting interpretations of pathogenicity757417271RCV000491209|RCV000553378|RCV001500075; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457193864571938NC_000011.9:g.64571938G>AClinGen:CA060907C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1699G>C (p.Ala567Pro)4221MEN1Uncertain significance1555163185RCV000574893|RCV003465261; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457194064571940NC_000011.9:g.64571940C>GClinGen:CA381177639C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1698G>A (p.Val566=)4221MEN1Likely benign2136080002RCV001470899; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719416457194164571941-
NM_001370259.2(MEN1):c.1695G>T (p.Leu565=)4221MEN1Likely benign767677287RCV000564918|RCV000756336|RCV001087239; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457194464571944NC_000011.9:g.64571944C>AClinGen:CA060897C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1693C>T (p.Leu565=)4221MEN1Likely benign1251646520RCV001407162; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719466457194664571946-
NM_001370259.2(MEN1):c.1692G>T (p.Leu564=)4221MEN1Likely benign367581776RCV000632156|RCV001012772; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645719476457194711:g.64571947C>AClinGen:CA060893C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1691T>C (p.Leu564Pro)4221MEN1Uncertain significance2136080204RCV002013733|RCV002407289; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645719486457194864571948-
NM_001370259.2(MEN1):c.1689G>A (p.Glu563=)4221MEN1Likely benign1178628764RCV001478555|RCV002414156; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645719506457195064571950-
NM_001370259.2(MEN1):c.1686G>A (p.Lys562=)4221MEN1Likely benign2136080412RCV002152865; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719536457195364571953-
NM_001370259.2(MEN1):c.1682T>C (p.Met561Thr)4221MEN1Uncertain significance1941501393RCV001893760; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719576457195764571957-
NM_001370259.2(MEN1):c.1672_1679del (p.Met558fs)4221MEN1Pathogenic1941501683RCV001065726; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719606457196711:g.64571960_64571967del-
NM_001370259.2(MEN1):c.1677G>A (p.Lys559=)4221MEN1Likely benign2136080688RCV002162680; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719626457196264571962-
NM_001370259.2(MEN1):c.1674dup (p.Lys559fs)4221MEN1Pathogenic1565635941RCV000689715; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457196464571965NC_000011.9:g.64571965dup-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1674G>A (p.Met558Ile)4221MEN1Uncertain significance-1RCV002405919|RCV003097096; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719656457196564571965-
NM_001370259.2(MEN1):c.1642_1673delinsCC (p.Gly548_Met558delinsPro)4221MEN1Pathogenic-1RCV003001978; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457196664571997NC_000011.9:g.64571966_64571997delinsGG-
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)4221MEN1Conflicting interpretations of pathogenicity794728661RCV000182464|RCV001223385|RCV003407673; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|116457196764571969NC_000011.9:g.64571967TCT[1]ClinGen:CA009279CN517202 not provided;
NM_001370259.2(MEN1):c.1670del (p.Lys557fs)4221MEN1Pathogenic1592630079RCV000824610; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719696457196911:g.64571969_64571969del-
NM_001370259.2(MEN1):c.1670A>T (p.Lys557Met)4221MEN1Uncertain significance-1RCV002297479; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719696457196964571969-
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs)4221MEN1Pathogenic/Likely pathogenic1114167510RCV000491205|RCV001258063; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719716457197411:g.64571971_64571974delClinGen:CA645369569C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1668G>A (p.Glu556=)4221MEN1Likely benign2136080910RCV001446044; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719716457197164571971-
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)4221MEN1Pathogenic/Likely pathogenic863224527RCV000199920|RCV000507111|RCV000491766; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457197564571975NC_000011.9:g.64571975C>TClinGen:CA338972C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter)4221MEN1Pathogenic794728631RCV000182425|RCV000491870|RCV000542312; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457197964571979NC_000011.9:g.64571979G>AClinGen:CA009272C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1660del (p.Gln554fs)4221MEN1Pathogenic2136081113RCV001881459; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719796457197964571978-
NM_001370259.2(MEN1):c.1659C>T (p.Phe553=)4221MEN1Conflicting interpretations of pathogenicity1299138529RCV000568387|RCV002060519; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457198064571980NC_000011.9:g.64571980G>AClinGen:CA475163495C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1657_1658del (p.Phe553fs)4221MEN1Pathogenic2136081238RCV001951114; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719816457198264571980-
NM_001370259.2(MEN1):c.1658T>A (p.Phe553Tyr)4221MEN1Uncertain significance-1RCV003035231; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457198164571981NC_000011.9:g.64571981A>T-
NM_001370259.2(MEN1):c.1656T>C (p.Thr552=)4221MEN1Likely benign143423552RCV000490999|RCV000679253|RCV001086364|RCV003235049; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374116457198364571983NC_000011.9:g.64571983A>GClinGen:CA009268C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1654A>G (p.Thr552Ala)4221MEN1Uncertain significance121913035RCV001928013; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719856457198564571985-
NM_001370259.2(MEN1):c.1653C>T (p.Leu551=)4221MEN1Likely benign1592630324RCV001405627; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719866457198611:g.64571986G>A-
NM_001370259.2(MEN1):c.1653C>G (p.Leu551=)4221MEN1Likely benign1592630324RCV000977248|RCV002400136; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645719866457198611:g.64571986G>C-
NM_001370259.2(MEN1):c.1651C>T (p.Leu551Phe)4221MEN1Uncertain significance990141724RCV001246504; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719886457198811:g.64571988G>A-
NM_001370259.2(MEN1):c.1649T>G (p.Val550Gly)4221MEN1Uncertain significance1941506496RCV001045807; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719906457199011:g.64571990A>C-
NM_001370259.2(MEN1):c.1649T>C (p.Val550Ala)4221MEN1Uncertain significance1941506496RCV002042767; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719906457199064571990-
NM_001370259.2(MEN1):c.1648G>C (p.Val550Leu)4221MEN1Uncertain significance562257963RCV000793423|RCV002307616|RCV002388419; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645719916457199111:g.64571991C>G-
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu)4221MEN1Conflicting interpretations of pathogenicity562257963RCV001232905|RCV003166426; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645719916457199111:g.64571991C>A-
NM_001370259.2(MEN1):c.1648G>A (p.Val550Met)4221MEN1Uncertain significance562257963RCV001958521; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719916457199164571991-
NM_001370259.2(MEN1):c.1647A>G (p.Pro549=)4221MEN1Likely benign2136081746RCV002212227|RCV002391185; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645719926457199264571992-
NM_001370259.2(MEN1):c.1646C>T (p.Pro549Leu)4221MEN1Uncertain significance-1RCV002676777; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457199364571993NC_000011.9:g.64571993G>A-
NM_001370259.2(MEN1):c.1641G>A (p.Glu547=)4221MEN1Likely benign1555163295RCV000632168|RCV003302993; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457199864571998NC_000011.9:g.64571998C>TClinGen:CA475163594C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1640A>G (p.Glu547Gly)4221MEN1Likely benign914488914RCV000529882|RCV001012531; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457199964571999NC_000011.9:g.64571999T>CClinGen:CA223911789C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1640A>C (p.Glu547Ala)4221MEN1Uncertain significance914488914RCV001874788; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645719996457199964571999-
NM_001370259.2(MEN1):c.1633CCG[3] (p.Pro546dup)4221MEN1Conflicting interpretations of pathogenicity774350463RCV000168092|RCV002399595; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720006457200111:g.64572000_64572001insCGGClinGen:CA334256C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1639G>A (p.Glu547Lys)4221MEN1Uncertain significance1941508162RCV001043456; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720006457200011:g.64572000C>T-
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=)4221MEN1Benign/Likely benign368783097RCV000491078|RCV000679252|RCV000838399|RCV001086369; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457200164572001NC_000011.9:g.64572001C>TClinGen:CA060874C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu)4221MEN1Uncertain significance779413959RCV000167886|RCV002399594; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457200264572002NC_000011.9:g.64572002G>AClinGen:CA009249C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1636C>T (p.Pro546Ser)4221MEN1Uncertain significance2136082158RCV001890494; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720036457200364572003-
NM_001370259.2(MEN1):c.1635G>A (p.Pro545=)4221MEN1Likely benign1349729840RCV000553596|RCV001012390; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457200464572004NC_000011.9:g.64572004C>TClinGen:CA475163627C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1634C>T (p.Pro545Leu)4221MEN1Uncertain significance1592630610RCV001889766|RCV002397822; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720056457200564572005-
NM_001370259.2(MEN1):c.1633C>T (p.Pro545Ser)4221MEN1Uncertain significance1941510179RCV001063209|RCV002402444; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720066457200611:g.64572006G>A-
NM_001370259.2(MEN1):c.1630C>T (p.Pro544Ser)4221MEN1Uncertain significance1387157979RCV001050468|RCV001529168; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN51720211645720096457200911:g.64572009G>A-
NM_001370259.2(MEN1):c.1628C>T (p.Ser543Leu)4221MEN1Uncertain significance1592630661RCV000796623; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720116457201111:g.64572011G>A-
NM_001370259.2(MEN1):c.1626A>G (p.Ala542=)4221MEN1Likely benign2136082421RCV002081377; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720136457201364572013-
NM_001370259.2(MEN1):c.1625C>T (p.Ala542Val)4221MEN1Uncertain significance1941511257RCV001344675; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720146457201464572014-
NM_001370259.2(MEN1):c.1621_1622delinsGA (p.Thr541Glu)4221MEN1Uncertain significance1941511781RCV001342856; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720176457201864572017-
NM_001370259.2(MEN1):c.1621= (p.Thr541=)4221MEN1Conflicting interpretations of pathogenicity2959656RCV000034785|RCV000082334|RCV000210359|RCV001084452; NMedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0008200,Human Phenotype Ontology:HP:0008254,MONDO:MONDO:0010837,MedGen:C0221002|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720186457201811:g.64572018T>.ClinGen:CA009240C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1621A>G (p.Thr541Ala)4221MEN1Benign2959656RCV000121334|RCV000860147|RCV002227065; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645720186457201811:g.64572018T>CClinGen:CA060856CN169374 not specified;
NM_001370259.2(MEN1):c.1621A>C (p.Thr541Pro)4221MEN1Uncertain significance2959656RCV000793172; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720186457201811:g.64572018T>G-
NM_001370259.2(MEN1):c.1620_1621inv (p.Thr541Ala)4221MEN1Likely benign-1RCV001484742; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720186457201964572018-
NM_001370259.2(MEN1):c.1620_1621delinsAG (p.Thr541Ala)4221MEN1Likely benign2136082604RCV001425924; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720186457201964572018-
NM_001370259.2(MEN1):c.1620C>T (p.Pro540=)4221MEN1Likely benign928470958RCV002542299|RCV003169386; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720196457201911:g.64572019G>A-
NM_001370259.2(MEN1):c.1619C>G (p.Pro540Arg)4221MEN1Uncertain significance780844361RCV001895597; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720206457202064572020-
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)4221MEN1Conflicting interpretations of pathogenicity745404679RCV000231689|RCV000575915|RCV000679251|RCV000735331|RCV001103324; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0002415,Human Phenotype Ontology:HP:0006926,Human Phenotype Ontology:H116457202164572021NC_000011.9:g.64572021G>AClinGen:CA009233C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1616C>T (p.Ala539Val)4221MEN1Uncertain significance-1RCV002394861|RCV003097010; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720236457202364572023-
NM_001370259.2(MEN1):c.1610T>G (p.Val537Gly)4221MEN1Likely benign775422717RCV000814868|RCV002390649; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720296457202911:g.64572029A>C-
NM_001370259.2(MEN1):c.1609G>A (p.Val537Met)4221MEN1Conflicting interpretations of pathogenicity1057521847RCV000436800|RCV000491562|RCV001374124; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720306457203011:g.64572030C>TClinGen:CA16606963C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1609G>C (p.Val537Leu)4221MEN1Likely benign1057521847RCV001991590; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720306457203064572030-
NM_001370259.2(MEN1):c.1609del (p.Val537fs)4221MEN1Pathogenic/Likely pathogenic2136083128RCV001963123|RCV002388935|RCV003120788; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190011645720306457203064572029-
NM_001370259.2(MEN1):c.1608G>A (p.Gln536=)4221MEN1Likely benign1055457298RCV000564252|RCV001001327; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720316457203111:g.64572031C>TClinGen:CA223911872C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1607A>G (p.Gln536Arg)4221MEN1Uncertain significance762867287RCV001012352|RCV001860704; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720326457203211:g.64572032T>C-
NM_001370259.2(MEN1):c.1605T>C (p.Ala535=)4221MEN1Likely benign2136083318RCV001436580; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720346457203464572034-
NM_001370259.2(MEN1):c.1602G>A (p.Thr534=)4221MEN1Likely benign1592631034RCV001457349|RCV002400015; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720376457203711:g.64572037C>T-
NM_001370259.2(MEN1):c.1602G>C (p.Thr534=)4221MEN1Likely benign1592631034RCV001459611|RCV002400077; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720376457203711:g.64572037C>G-
NM_001370259.2(MEN1):c.1602G>T (p.Thr534=)4221MEN1Likely benign1592631034RCV001430739|RCV002405008; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720376457203764572037-
NM_001370259.2(MEN1):c.1601C>T (p.Thr534Met)4221MEN1Uncertain significance1192690654RCV001907841; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720386457203864572038-
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)4221MEN1Conflicting interpretations of pathogenicity587780843RCV000123383|RCV000572942; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457204564572045NC_000011.9:g.64572045C>AClinGen:CA009225C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1592G>A (p.Gly531Asp)4221MEN1Uncertain significance1941517219RCV001342991; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720476457204764572047-
NM_001370259.2(MEN1):c.1591G>A (p.Gly531Ser)4221MEN1Uncertain significance1592631128RCV002041525; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720486457204864572048-
NM_001370259.2(MEN1):c.1590del (p.Gly531fs)4221MEN1Pathogenic886039421RCV000255871|RCV002518753; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720496457204911:g.64572049_64572049delClinGen:CA10588526CN517202 not provided;
NM_001370259.2(MEN1):c.1589A>C (p.Glu530Ala)4221MEN1Uncertain significance1565636654RCV000679250|RCV002544693; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457205064572050NC_000011.9:g.64572050T>G-CN517202 not provided;
NM_001370259.2(MEN1):c.1588G>C (p.Glu530Gln)4221MEN1Uncertain significance762145604RCV001363933; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720516457205164572051-
NM_001370259.2(MEN1):c.1584C>G (p.Gly528=)4221MEN1Likely benign1592631208RCV001478735|RCV002400154; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720556457205511:g.64572055G>C-
NM_001370259.2(MEN1):c.1583G>A (p.Gly528Asp)4221MEN1Uncertain significance1555163392RCV000632144; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720566457205611:g.64572056C>TClinGen:CA381178330C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln)4221MEN1Conflicting interpretations of pathogenicity1085307502RCV000489063|RCV001039164|RCV002404280; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720596457205911:g.64572059C>TClinGen:CA381178349CN169374 not specified;
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)4221MEN1Pathogenic/Likely pathogenic104894261RCV000018168|RCV000182423|RCV000491431|RCV000515522; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|11645720606457206011:g.64572060G>AClinGen:CA009219,OMIM:613733.0012C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1578C>A (p.Ala526=)4221MEN1Likely benign767655504RCV000205589|RCV002256119; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720616457206111:g.64572061G>TClinGen:CA060797C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1578C>T (p.Ala526=)4221MEN1Likely benign767655504RCV001012250|RCV001492730; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720616457206111:g.64572061G>A-
NM_001370259.2(MEN1):c.1577C>T (p.Ala526Val)4221MEN1Uncertain significance-1RCV002297141; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720626457206264572062-
NM_001370259.2(MEN1):c.1576G>A (p.Ala526Thr)4221MEN1Uncertain significance1295193195RCV002044109|RCV002545336; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MeSH:D030342,MedGen:C095012311645720636457206364572063-
NM_001370259.2(MEN1):c.1574del (p.Thr525fs)4221MEN1Pathogenic1114167514RCV000490847|RCV001206955; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720656457206511:g.64572065_64572065delClinGen:CA645369553C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1569T>G (p.Ala523=)4221MEN1Likely benign1592631415RCV000921904|RCV002400016; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720706457207011:g.64572070A>C-
NM_001370259.2(MEN1):c.1569T>A (p.Ala523=)4221MEN1Uncertain significance1592631415RCV001318030; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720706457207064572070-
NM_001370259.2(MEN1):c.1567G>C (p.Ala523Pro)4221MEN1Conflicting interpretations of pathogenicity760683615RCV000168386|RCV002399596; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457207264572072NC_000011.9:g.64572072C>GClinGen:CA009213C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1567G>A (p.Ala523Thr)4221MEN1Conflicting interpretations of pathogenicity760683615RCV000632113|RCV002271541|RCV002404746; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457207264572072NC_000011.9:g.64572072C>TClinGen:CA060785C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1566C>T (p.Val522=)4221MEN1Likely benign-1RCV002405528|RCV003096944; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457207364572073-
NM_001370259.2(MEN1):c.1564dup (p.Val522fs)4221MEN1Likely pathogenic1941522995RCV001174739; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720746457207511:g.64572074_64572075insC-
NM_001370259.2(MEN1):c.1565T>C (p.Val522Ala)4221MEN1Uncertain significance1592631462RCV001221787; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720746457207411:g.64572074A>G-
NM_001370259.2(MEN1):c.1564G>C (p.Val522Leu)4221MEN1Uncertain significance1060499983RCV000462233|RCV001012142; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457207564572075NC_000011.9:g.64572075C>GClinGen:CA16613661C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1562C>T (p.Thr521Ile)4221MEN1Uncertain significance1565636898RCV000701461|RCV003165870; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457207764572077NC_000011.9:g.64572077G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1562C>G (p.Thr521Ser)4221MEN1Uncertain significance1565636898RCV000814100; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720776457207711:g.64572077G>C-
NM_001370259.2(MEN1):c.1561A>T (p.Thr521Ser)4221MEN1Uncertain significance1565636917RCV000691457; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457207864572078NC_000011.9:g.64572078T>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1561A>C (p.Thr521Pro)4221MEN1Uncertain significance1565636917RCV001057973|RCV002402418; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720786457207811:g.64572078T>G-
NM_001370259.2(MEN1):c.1561A>G (p.Thr521Ala)4221MEN1Uncertain significance1565636917RCV001996378; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720786457207864572078-
NM_001370259.2(MEN1):c.1560G>A (p.Gly520=)4221MEN1Likely benign969035156RCV002194046; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720796457207964572079-
NM_001370259.2(MEN1):c.1558G>A (p.Gly520Arg)4221MEN1Conflicting interpretations of pathogenicity1427043628RCV001350060|RCV002404831; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720816457208164572081-
NM_001370259.2(MEN1):c.1556del (p.Pro519fs)4221MEN1Pathogenic2136084930RCV001384744|RCV001564679; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645720836457208364572082-
NM_001370259.2(MEN1):c.1554T>C (p.Pro518=)4221MEN1Likely benign2136084986RCV002184005; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720856457208564572085-
NM_001370259.2(MEN1):c.1554T>G (p.Pro518=)4221MEN1Likely benign-1RCV002578638; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457208564572085-
NM_001370259.2(MEN1):c.1552C>T (p.Pro518Ser)4221MEN1Uncertain significance1204943413RCV000812581|RCV002397677; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720876457208711:g.64572087G>A-
NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter)4221MEN1Pathogenic794728630RCV000491042|RCV001852315; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720906457209011:g.64572090T>AClinGen:CA009207C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)4221MEN1Pathogenic/Likely pathogenic761695866RCV000182442|RCV001174576|RCV002399657; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457209064572091NC_000011.9:g.64572092dupClinGen:CA306384CN517202 not provided;
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)4221MEN1Pathogenic767319284RCV000018171|RCV000269197|RCV000491230|RCV000548407; NHuman Phenotype Ontology:HP:0030445,MONDO:MONDO:0006041,MedGen:C0280089|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720926457209311:g.64572092_64572093insGClinGen:CA6082217,OMIM:613733.0015,OMIM:613733.0033C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1547G>A (p.Arg516Gln)4221MEN1Uncertain significance1565637104RCV000807352; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720926457209211:g.64572092C>T-
NM_001370259.2(MEN1):c.1546del (p.Arg516fs)4221MEN1Pathogenic767319284RCV000182439|RCV000228926|RCV001012050; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457209364572093NC_000011.9:g.64572099delClinGen:CA009199,OMIM:613733.0028C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1546C>G (p.Arg516Gly)4221MEN1Conflicting interpretations of pathogenicity763160290RCV000695921|RCV002397421; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457209364572093NC_000011.9:g.64572093G>C-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1546C>T (p.Arg516Trp)4221MEN1Uncertain significance763160290RCV000708705|RCV001321256; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457209364572093NC_000011.9:g.64572093G>A-C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1545C>A (p.Pro515=)4221MEN1Likely benign1555163491RCV000632161; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457209464572094NC_000011.9:g.64572094G>TClinGen:CA475162960C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1544C>G (p.Pro515Arg)4221MEN1Uncertain significance1941528728RCV001306264; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720956457209564572095-
NM_001370259.2(MEN1):c.1543C>T (p.Pro515Ser)4221MEN1Uncertain significance779466487RCV000709156; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457209664572096NC_000011.9:g.64572096G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1542C>T (p.Pro514=)4221MEN1Likely benign1592631827RCV001012112|RCV002550775; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720976457209711:g.64572097G>A-
NM_001370259.2(MEN1):c.1542C>G (p.Pro514=)4221MEN1Likely benign1592631827RCV002125639; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720976457209764572097-
NM_001370259.2(MEN1):c.1541C>G (p.Pro514Arg)4221MEN1Uncertain significance753022747RCV000233918|RCV000561798; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720986457209811:g.64572098G>CClinGen:CA060761C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1541C>T (p.Pro514Leu)4221MEN1Uncertain significance753022747RCV000540194|RCV002404383; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457209864572098NC_000011.9:g.64572098G>AClinGen:CA381178580C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1532_1541del (p.Val511fs)4221MEN1Pathogenic1941529928RCV001233728; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645720986457210711:g.64572098_64572107del-
NM_001370259.2(MEN1):c.1541C>A (p.Pro514His)4221MEN1Uncertain significance753022747RCV001974376|RCV003170328; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645720986457209864572098-
NM_001370259.2(MEN1):c.1540C>A (p.Pro514Thr)4221MEN1Conflicting interpretations of pathogenicity150202288RCV000232118|RCV002401910; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457209964572099NC_000011.9:g.64572099G>TClinGen:CA060747C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1540C>T (p.Pro514Ser)4221MEN1Likely benign150202288RCV000687699|RCV002397376; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457209964572099NC_000011.9:g.64572099G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1539del (p.Arg516fs)4221MEN1Pathogenic/Likely pathogenic1592631908RCV001011983|RCV001860686; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721006457210011:g.64572100_64572100del-
NM_001370259.2(MEN1):c.1539A>T (p.Gly513=)4221MEN1Likely benign1941530792RCV001209604|RCV002402620; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721006457210011:g.64572100T>A-
NM_001370259.2(MEN1):c.1536A>G (p.Ser512=)4221MEN1Likely benign2136085950RCV001501188|RCV002405188; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721036457210364572103-
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)4221MEN1Conflicting interpretations of pathogenicity141679530RCV000168243|RCV000276552|RCV000561706|RCV001558467|RCV001818404|RCV003416048; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:CN169374|116457210464572104NC_000011.9:g.64572104G>AClinGen:CA009193C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1533_1534dup (p.Ser512fs)4221MEN1Pathogenic794728659RCV000182462|RCV000491410|RCV001382418; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457210464572105NC_000011.9:g.64572105AC[3]ClinGen:CA306434C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1535C>G (p.Ser512Ter)4221MEN1Pathogenic141679530RCV000550819; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457210464572104NC_000011.9:g.64572104G>CClinGen:CA381178620C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1532dup (p.Ser512fs)4221MEN1Pathogenic1941531859RCV001215902; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721066457210711:g.64572106_64572107insA-
NM_001370259.2(MEN1):c.1533G>A (p.Val511=)4221MEN1Likely benign-1RCV003046278; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457210664572106-
NM_001370259.2(MEN1):c.1530A>C (p.Ala510=)4221MEN1Likely benign1941532417RCV002107746; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721096457210964572109-
NM_001370259.2(MEN1):c.1529C>T (p.Ala510Val)4221MEN1Uncertain significance1356056436RCV001968959; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721106457211064572110-
NM_001370259.2(MEN1):c.1526G>T (p.Gly509Val)4221MEN1Uncertain significance769355346RCV000632099; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457211364572113NC_000011.9:g.64572113C>AClinGen:CA381178671C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1526G>A (p.Gly509Asp)4221MEN1Uncertain significance769355346RCV001342594; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721136457211364572113-
NM_001370259.2(MEN1):c.1525G>A (p.Gly509Ser)4221MEN1Uncertain significance1941533809RCV001225651; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721146457211411:g.64572114C>T-
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)4221MEN1Conflicting interpretations of pathogenicity386833403RCV000455940|RCV000464409|RCV000575663; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457211764572117NC_000011.9:g.64572117G>TClinGen:CA060724C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1522C>T (p.Gln508Ter)4221MEN1Pathogenic386833403RCV001197197; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721176457211711:g.64572117G>A-
NM_001370259.2(MEN1):c.1521C>A (p.Gly507=)4221MEN1Likely benign1407833502RCV000905665|RCV001011968; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721186457211811:g.64572118G>T-
NM_001370259.2(MEN1):c.1519G>T (p.Gly507Cys)4221MEN1Uncertain significance1423874145RCV000533671; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721206457212011:g.64572120C>AClinGen:CA381178712C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1519G>A (p.Gly507Ser)4221MEN1Conflicting interpretations of pathogenicity1423874145RCV001038797|RCV002391105; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721206457212011:g.64572120C>T-
NM_001370259.2(MEN1):c.1518C>T (p.Thr506=)4221MEN1Benign/Likely benign749265222RCV000228222|RCV000576040; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457212164572121NC_000011.9:g.64572121G>AClinGen:CA060719C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1518C>A (p.Thr506=)4221MEN1Likely benign749265222RCV002092532; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721216457212164572121-
NM_001370259.2(MEN1):c.1517C>T (p.Thr506Ile)4221MEN1Uncertain significance1347992299RCV000694715|RCV002388259; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457212264572122NC_000011.9:g.64572122G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1516A>C (p.Thr506Pro)4221MEN1Uncertain significance1060499994RCV000476839|RCV001011879|RCV001284274; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457212364572123NC_000011.9:g.64572123T>GClinGen:CA16613440C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1515C>T (p.Gly505=)4221MEN1Uncertain significance2136086851RCV001965300; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721246457212464572124-
NM_001370259.2(MEN1):c.1514G>T (p.Gly505Val)4221MEN1Uncertain significance1320934898RCV001361223; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721256457212564572125-
NM_001370259.2(MEN1):c.1514G>A (p.Gly505Asp)4221MEN1Uncertain significance1320934898RCV001371635; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721256457212564572125-
NM_001370259.2(MEN1):c.1510C>G (p.Leu504Val)4221MEN1Uncertain significance1390530663RCV001039930; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721296457212911:g.64572129G>C-
NM_001370259.2(MEN1):c.1509C>T (p.Gly503=)4221MEN1Likely benign-1RCV002587303; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457213064572130-
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp)4221MEN1Benign/Likely benign375804228RCV000491076|RCV000616587|RCV001000155|RCV001105230|RCV001705900; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MedGen:C366190011645721316457213111:g.64572131C>TClinGen:CA009181C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1507G>T (p.Gly503Cys)4221MEN1Uncertain significance2136087052RCV001959708; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721326457213264572132-
NM_001370259.2(MEN1):c.1506G>C (p.Lys502Asn)4221MEN1Conflicting interpretations of pathogenicity774296730RCV000458972|RCV000566191|RCV003392264; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|116457213364572133NC_000011.9:g.64572133C>GClinGen:CA060705C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1505dup (p.Leu504fs)4221MEN1Pathogenic1555163591RCV000485290|RCV001851142; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457213364572134NC_000011.9:g.64572135dupClinGen:CA16619357CN517202 not provided;
NM_001370259.2(MEN1):c.1503C>G (p.Asp501Glu)4221MEN1Uncertain significance2136087305RCV001361936; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721366457213664572136-
NM_001370259.2(MEN1):c.1503C>T (p.Asp501=)4221MEN1Likely benign2136087305RCV002149127; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721366457213664572136-
NM_001370259.2(MEN1):c.1502A>T (p.Asp501Val)4221MEN1Uncertain significance-1RCV003470093; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457213764572137-
NM_001370259.2(MEN1):c.1500G>T (p.Leu500=)4221MEN1Likely benign-1RCV002389934|RCV003095253; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457213964572139-
NM_001370259.2(MEN1):c.1500G>A (p.Leu500=)4221MEN1Likely benign-1RCV002948920; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457213964572139-
NM_001370259.2(MEN1):c.1499T>G (p.Leu500Arg)4221MEN1Uncertain significance1941538934RCV002004867; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721406457214064572140-
NM_001370259.2(MEN1):c.1498C>T (p.Leu500=)4221MEN1Likely benign2136087489RCV001465960|RCV002396102; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721416457214164572141-
NM_001370259.2(MEN1):c.1497A>G (p.Ala499=)4221MEN1Likely benign1057121245RCV000926922|RCV002390934; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721426457214211:g.64572142T>C-
NM_001370259.2(MEN1):c.1495G>A (p.Ala499Thr)4221MEN1Uncertain significance761517398RCV002257044|RCV003094199; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721446457214464572144-
NM_001370259.2(MEN1):c.1494A>T (p.Pro498=)4221MEN1Likely benign1037335560RCV000632157|RCV003343963; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457214564572145NC_000011.9:g.64572145T>AClinGen:CA223912004C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1492C>G (p.Pro498Ala)4221MEN1Uncertain significance771842369RCV000794008|RCV002388425; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721476457214711:g.64572147G>C-
NM_001370259.2(MEN1):c.1491G>A (p.Lys497=)4221MEN1Likely benign2136087753RCV002153292; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721486457214864572148-
NM_001370259.2(MEN1):c.1490A>G (p.Lys497Arg)4221MEN1Uncertain significance1941540571RCV001237294; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721496457214911:g.64572149T>C-
NM_001370259.2(MEN1):c.1487A>G (p.Lys496Arg)4221MEN1Uncertain significance1270463727RCV001899811|RCV003164132; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721526457215264572152-
NM_001370259.2(MEN1):c.1485C>T (p.Pro495=)4221MEN1Likely benign2136087952RCV002216818|RCV003303744; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721546457215464572154-
NM_001370259.2(MEN1):c.1483C>T (p.Pro495Ser)4221MEN1Uncertain significance-1RCV002397197|RCV003095224; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721566457215664572156-
NM_001370259.2(MEN1):c.1482G>A (p.Pro494=)4221MEN1Likely benign773363654RCV000473944|RCV000571497; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457215764572157NC_000011.9:g.64572157C>TClinGen:CA060684C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1481C>T (p.Pro494Leu)4221MEN1Uncertain significance1060499993RCV000469797|RCV002393073; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457215864572158NC_000011.9:g.64572158G>AClinGen:CA16613663C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1479G>A (p.Pro493=)4221MEN1Likely benign546721780RCV000473734|RCV000571666|RCV001721504; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457216064572160NC_000011.9:g.64572160C>TClinGen:CA060678C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1479G>T (p.Pro493=)4221MEN1Likely benign546721780RCV001463618; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721606457216011:g.64572160C>A-
NM_001370259.2(MEN1):c.1478C>T (p.Pro493Leu)4221MEN1Conflicting interpretations of pathogenicity766604600RCV000525912|RCV001011715; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457216164572161NC_000011.9:g.64572161G>AClinGen:CA060672C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1478del (p.Pro493fs)4221MEN1Pathogenic-1RCV002397070|RCV003095215; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721616457216164572160-
NM_001370259.2(MEN1):c.1477C>T (p.Pro493Ser)4221MEN1Uncertain significance1941543089RCV001307209|RCV002393728; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721626457216264572162-
NM_001370259.2(MEN1):c.1476C>T (p.Pro492=)4221MEN1Likely benign2136088299RCV001415917; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721636457216364572163-
NM_001370259.2(MEN1):c.1476C>G (p.Pro492=)4221MEN1Likely benign2136088299RCV001489035|RCV002396168; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721636457216364572163-
NM_001370259.2(MEN1):c.1475C>T (p.Pro492Leu)4221MEN1Uncertain significance1025851127RCV001067347|RCV002393324; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721646457216411:g.64572164G>A-
NM_001370259.2(MEN1):c.1473G>A (p.Glu491=)4221MEN1Likely benign1555163642RCV000549772|RCV002395304; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721666457216611:g.64572166C>TClinGen:CA475163192C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1473del (p.Glu491fs)4221MEN1Pathogenic1555163646RCV000632141; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457216664572166NC_000011.9:g.64572166delClinGen:CA658797662C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter)4221MEN1Likely pathogenic-1RCV002796919; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457216864572168NC_000011.9:g.64572168C>A-
NM_001370259.2(MEN1):c.1467A>G (p.Pro489=)4221MEN1Likely benign1592632826RCV001451563|RCV002390838; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721726457217211:g.64572172T>C-
NM_001370259.2(MEN1):c.1465C>T (p.Pro489Ser)4221MEN1Uncertain significance587778440RCV000121335|RCV000695300|RCV002390271; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721746457217411:g.64572174G>AClinGen:CA009174C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1465C>A (p.Pro489Thr)4221MEN1Uncertain significance587778440RCV001225532; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721746457217411:g.64572174G>T-
NM_001370259.2(MEN1):c.1464G>A (p.Lys488=)4221MEN1Likely benign-1RCV002877434; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457217564572175-
NM_001370259.2(MEN1):c.1463A>G (p.Lys488Arg)4221MEN1Uncertain significance1941545858RCV001054918|RCV002393273; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721766457217611:g.64572176T>C-
NM_001370259.2(MEN1):c.1462A>C (p.Lys488Gln)4221MEN1Uncertain significance1941546101RCV001239842; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721776457217711:g.64572177T>G-
NM_001370259.2(MEN1):c.1460C>T (p.Ser487Phe)4221MEN1Uncertain significance1941546652RCV001049884; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721796457217911:g.64572179G>A-
NM_001370259.2(MEN1):c.1459T>C (p.Ser487Pro)4221MEN1Uncertain significance1057427859RCV000537416; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721806457218011:g.64572180A>GClinGen:CA381179189C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1458G>A (p.Glu486=)4221MEN1Likely benign1413990417RCV000632154|RCV003162806; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721816457218111:g.64572181C>TClinGen:CA475163248C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1458G>C (p.Glu486Asp)4221MEN1Uncertain significance1413990417RCV001925152; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721816457218164572181-
NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter)4221MEN1Pathogenic2136089217RCV001381741; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721836457218364572183-
NM_001370259.2(MEN1):c.1454G>A (p.Arg485Gln)4221MEN1Uncertain significance2136089297RCV001364790|RCV002395819; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721856457218564572185-
NM_001370259.2(MEN1):c.1453C>T (p.Arg485Trp)4221MEN1Uncertain significance1254459338RCV000556700|RCV002395303; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457218664572186NC_000011.9:g.64572186G>AClinGen:CA381179244C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1453C>A (p.Arg485=)4221MEN1Likely benign1254459338RCV001447463|RCV002396035; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721866457218664572186-
NM_001370259.2(MEN1):c.1451G>A (p.Arg484Gln)4221MEN1Uncertain significance-1RCV002394619|RCV003095182; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721886457218864572188-
NM_001370259.2(MEN1):c.1450C>T (p.Arg484Trp)4221MEN1Uncertain significance1941548479RCV001223765|RCV003163744; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645721896457218911:g.64572189G>A-
NM_001370259.2(MEN1):c.1450C>G (p.Arg484Gly)4221MEN1Uncertain significance-1RCV002302275; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721896457218964572189-
NM_001370259.2(MEN1):c.1448C>T (p.Pro483Leu)4221MEN1Uncertain significance1941548759RCV001038051; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721916457219111:g.64572191G>A-
NM_001370259.2(MEN1):c.1447C>T (p.Pro483Ser)4221MEN1Uncertain significance1565638021RCV001316900; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721926457219264572192-
NM_001370259.2(MEN1):c.1444G>A (p.Gly482Ser)4221MEN1Uncertain significance2136089783RCV001370699; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721956457219564572195-
NM_001370259.2(MEN1):c.1443G>A (p.Arg481=)4221MEN1Likely benign864622641RCV001431309; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721966457219611:g.64572196C>TClinGen:CA348087C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1435_1441del (p.Arg479fs)4221MEN1Pathogenic2136089949RCV001873118; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645721986457220464572197-
NM_001370259.2(MEN1):c.1441C>T (p.Arg481Trp)4221MEN1Uncertain significance-1RCV003067611|RCV003384319; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457219864572198NC_000011.9:g.64572198G>A-
NM_001370259.2(MEN1):c.1439G>A (p.Arg480Gln)4221MEN1Uncertain significance1450318836RCV001313840|RCV002395671; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722006457220064572200-
NM_001370259.2(MEN1):c.1438C>T (p.Arg480Trp)4221MEN1Uncertain significance1301120298RCV001362607; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722016457220164572201-
NM_001370259.2(MEN1):c.1437del (p.Arg480fs)4221MEN1Pathogenic1941550964RCV001216756; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722026457220211:g.64572202_64572202del-
NM_001370259.2(MEN1):c.1437G>A (p.Arg479=)4221MEN1Likely benign1354865958RCV002112667|RCV002391240; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722026457220264572202-
NM_001370259.2(MEN1):c.1436G>C (p.Arg479Pro)4221MEN1Uncertain significance1555163716RCV000544433; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457220364572203NC_000011.9:g.64572203C>GClinGen:CA381179331C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1435C>T (p.Arg479Trp)4221MEN1Uncertain significance1941551498RCV001214980|RCV003313192; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN51720211645722046457220411:g.64572204G>A-
NM_001370259.2(MEN1):c.1434C>T (p.Gly478=)4221MEN1Conflicting interpretations of pathogenicity200280309RCV000234303|RCV000570713; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457220564572205NC_000011.9:g.64572205G>AClinGen:CA060658C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1434C>G (p.Gly478=)4221MEN1Likely benign200280309RCV002194315; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722056457220564572205-
NM_001370259.2(MEN1):c.1424_1432del (p.Ala475_Glu477del)4221MEN1Uncertain significance1290740194RCV000801117|RCV002388478; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722076457221511:g.64572207_64572215del-
NM_001370259.2(MEN1):c.1432G>A (p.Gly478Ser)4221MEN1Uncertain significance1941551993RCV001312941|RCV003284172; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722076457220764572207-
NM_001370259.2(MEN1):c.1431A>T (p.Glu477Asp)4221MEN1Uncertain significance863224811RCV000197288|RCV003343700; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457220864572208NC_000011.9:g.64572208T>AClinGen:CA337096C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)4221MEN1Pathogenic863224526RCV000198067|RCV000254822|RCV000490934; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457221064572210NC_000011.9:g.64572210C>AClinGen:CA337615C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1429G>C (p.Glu477Gln)4221MEN1Uncertain significance863224526RCV000632101; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457221064572210NC_000011.9:g.64572210C>GClinGen:CA381179374C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1428G>C (p.Arg476=)4221MEN1Likely benign1555163730RCV000536333|RCV002256344; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457221164572211NC_000011.9:g.64572211C>GClinGen:CA475163376C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1428G>A (p.Arg476=)4221MEN1Likely benign1555163730RCV001461279; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722116457221164572211-
NM_001370259.2(MEN1):c.1427G>A (p.Arg476Gln)4221MEN1Uncertain significance753185026RCV001303949; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722126457221264572212-
NM_001370259.2(MEN1):c.1426C>T (p.Arg476Trp)4221MEN1Uncertain significance1941554063RCV001316115; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722136457221364572213-
NM_001370259.2(MEN1):c.1424C>G (p.Ala475Gly)4221MEN1Uncertain significance-1RCV002801474; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457221564572215NC_000011.9:g.64572215G>C-
NM_001370259.2(MEN1):c.1407_1421del (p.Pro470_Glu474del)4221MEN1Uncertain significance1033303123RCV000544503|RCV002395302; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457221864572232NC_000011.9:g.64572224_64572238delClinGen:CA223912041C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1421A>G (p.Glu474Gly)4221MEN1Uncertain significance2136090940RCV001931533; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722186457221864572218-
NM_001370259.2(MEN1):c.1420del (p.Glu474fs)4221MEN1Pathogenic1592633378RCV000821759; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722196457221911:g.64572219_64572219del-
NM_001370259.2(MEN1):c.1419G>A (p.Glu473=)4221MEN1Likely benign2136091112RCV002189244; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722206457222064572220-
NM_001370259.2(MEN1):c.1416C>T (p.Gly472=)4221MEN1Likely benign764509990RCV000557060|RCV000567684; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457222364572223NC_000011.9:g.64572223G>AClinGen:CA060641C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1406_1413dup (p.Gly472fs)4221MEN1Pathogenic1114167536RCV000491271|RCV000532169; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457222564572226NC_000011.9:g.64572228_64572235dupClinGen:CA645369556C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1414G>C (p.Gly472Arg)4221MEN1Uncertain significance1941555781RCV001105231|RCV001105232; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C002050211645722256457222511:g.64572225C>G-
NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs)4221MEN1Pathogenic1592633463RCV000813744|RCV002390646; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722266457223911:g.64572226_64572239del-
NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter)4221MEN1Pathogenic1941556077RCV001213347|RCV002393488; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722266457222611:g.64572226C>T-
NM_001370259.2(MEN1):c.1413G>T (p.Trp471Cys)4221MEN1Uncertain significance1941556077RCV002007054; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722266457222664572226-
NM_001370259.2(MEN1):c.1412G>A (p.Trp471Ter)4221MEN1Pathogenic1060499991RCV000474300; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457222764572227NC_000011.9:g.64572227C>TClinGen:CA16613444C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1412G>C (p.Trp471Ser)4221MEN1Uncertain significance1060499991RCV001237059; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722276457222711:g.64572227C>G-
NM_001370259.2(MEN1):c.1410G>A (p.Pro470=)4221MEN1Likely benign1060503795RCV001491814|RCV002393174; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457222964572229NC_000011.9:g.64572229C>TClinGen:CA16613379C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs)4221MEN1Likely pathogenic-1RCV003470101; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457222964572242-
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)4221MEN1Conflicting interpretations of pathogenicity750112288RCV000167949|RCV000569038|RCV000602813|RCV001105233; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C002050211645722306457223011:g.64572230G>AClinGen:CA009169C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1408C>G (p.Pro470Ala)4221MEN1Uncertain significance1941557896RCV001069437; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722316457223111:g.64572231G>C-
NM_001370259.2(MEN1):c.1393_1407del (p.Ala465_Glu469del)4221MEN1Uncertain significance1064792907RCV000467609; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457223264572246NC_000011.9:g.64572233_64572247delClinGen:CA16613608C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1406A>C (p.Glu469Ala)4221MEN1Uncertain significance1565638407RCV000709157|RCV002388350; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457223364572233NC_000011.9:g.64572233T>G-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1391_1405dup (p.Ala464_Glu468dup)4221MEN1Uncertain significance1592633626RCV001971565; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722336457223464572233-
NM_001370259.2(MEN1):c.1382_1404dup (p.Glu469fs)4221MEN1Pathogenic1555163780RCV000476906; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457223464572235NC_000011.9:g.64572235_64572257dupClinGen:CA16613611C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1391_1405del (p.Ala464_Glu468del)4221MEN1Uncertain significance1592633626RCV000816146; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722346457224811:g.64572234_64572248del-
NM_001370259.2(MEN1):c.1405G>C (p.Glu469Gln)4221MEN1Uncertain significance1182898331RCV001066383|RCV002393320; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722346457223411:g.64572234C>G-
NM_001370259.2(MEN1):c.1405G>A (p.Glu469Lys)4221MEN1Uncertain significance-1RCV002389367|RCV003095102; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722346457223464572234-
NM_001370259.2(MEN1):c.1404G>A (p.Glu468=)4221MEN1Likely benign755734265RCV000565386|RCV000827543|RCV001081562; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457223564572235NC_000011.9:g.64572235C>TClinGen:CA060631C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1394_1402dup (p.462AEA[3])4221MEN1Uncertain significance1592633710RCV000823122; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722366457223711:g.64572236_64572237insCGGCCTCGG-
NM_001370259.2(MEN1):c.1403A>G (p.Glu468Gly)4221MEN1Uncertain significance2136091899RCV001891575; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722366457223664572236-
NM_001370259.2(MEN1):c.1402G>A (p.Glu468Lys)4221MEN1Uncertain significance1471493357RCV001039197; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722376457223711:g.64572237C>T-
NM_001370259.2(MEN1):c.1401C>T (p.Ala467=)4221MEN1Likely benign878855190RCV000230391|RCV001011382; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457223864572238NC_000011.9:g.64572238G>AClinGen:CA6082218C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1383GGCCGAGGC[3] (p.462AEA[3])4221MEN1Uncertain significance772978541RCV001907997|RCV002388739; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722386457223964572238-
NM_001370259.2(MEN1):c.1383GGCCGAGGC[1] (p.462AEA[1])4221MEN1Uncertain significance772978541RCV001310009; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722396457224764572238-
NM_001370259.2(MEN1):c.1399G>A (p.Ala467Thr)4221MEN1Conflicting interpretations of pathogenicity779589005RCV000476178|RCV002393071; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457224064572240NC_000011.9:g.64572240C>TClinGen:CA060627C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1399G>T (p.Ala467Ser)4221MEN1Uncertain significance-1RCV003470098; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457224064572240-
NM_001370259.2(MEN1):c.1398G>T (p.Glu466Asp)4221MEN1Uncertain significance990566024RCV000543695|RCV001764533|RCV002395301; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722416457224111:g.64572241C>AClinGen:CA223912056C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1398G>A (p.Glu466=)4221MEN1Likely benign990566024RCV001505584|RCV002388561; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722416457224164572241-
NM_001370259.2(MEN1):c.1397A>T (p.Glu466Val)4221MEN1Uncertain significance1352053477RCV000531071|RCV001811030|RCV002395300; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722426457224211:g.64572242T>AClinGen:CA381179668C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1391_1396dup (p.Ala464_Ala465dup)4221MEN1Uncertain significance1555163821RCV000632137; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722426457224311:g.64572242_64572243insCGGCCGClinGen:CA658797664C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1396G>A (p.Glu466Lys)4221MEN1Uncertain significance1114167497RCV000491124|RCV001222306; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457224364572243NC_000011.9:g.64572243C>TClinGen:CA381179679C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1393_1396del (p.Ala465fs)4221MEN1Pathogenic-1RCV003062402; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457224364572246NC_000011.9:g.64572245_64572248del-
NM_001370259.2(MEN1):c.1396G>C (p.Glu466Gln)4221MEN1Uncertain significance-1RCV003092618; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457224364572243NC_000011.9:g.64572243C>G-
NM_001370259.2(MEN1):c.1395C>T (p.Ala465=)4221MEN1Likely benign748820252RCV000475617|RCV000565545; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457224464572244NC_000011.9:g.64572244G>AClinGen:CA060618C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1395C>G (p.Ala465=)4221MEN1Likely benign748820252RCV000562592|RCV002060414; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457224464572244NC_000011.9:g.64572244G>CClinGen:CA475163515C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1393del (p.Ala465fs)4221MEN1Pathogenic2136092552RCV001910810; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722466457224664572245-
NM_001370259.2(MEN1):c.1392G>A (p.Ala464=)4221MEN1Likely benign754445482RCV000227483|RCV001011304|RCV002465598; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN16937411645722476457224711:g.64572247C>TClinGen:CA060614C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1391dup (p.Ala465fs)4221MEN1Pathogenic2136092746RCV001386330; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722476457224864572247-
NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs)4221MEN1Pathogenic2136092832RCV001383288|RCV002246367|RCV002384547; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722476457224864572247-
NM_001370259.2(MEN1):c.1392G>C (p.Ala464=)4221MEN1Likely benign754445482RCV001407863; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722476457224764572247-
NM_001370259.2(MEN1):c.1391_1392insCAGAGGCCGAGGC (p.Ala465fs)4221MEN1Pathogenic-1RCV002811383; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457224764572248NC_000011.9:g.64572259_64572260insGGCCTCGGCCTCT-
NM_001370259.2(MEN1):c.1391C>T (p.Ala464Val)4221MEN1Conflicting interpretations of pathogenicity778728934RCV000459240|RCV001810944|RCV002393072; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457224864572248NC_000011.9:g.64572248G>AClinGen:CA060593C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1391C>A (p.Ala464Glu)4221MEN1Uncertain significance-1RCV003054070|RCV003170926; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457224864572248NC_000011.9:g.64572248G>T-
NM_001370259.2(MEN1):c.1382_1389dup (p.Ala464fs)4221MEN1Pathogenic1114167531RCV000491754|RCV000632114; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457224964572250NC_000011.9:g.64572256_64572263dupClinGen:CA645369558C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1390G>C (p.Ala464Pro)4221MEN1Uncertain significance2136092866RCV001951736; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722496457224964572249-
NM_001370259.2(MEN1):c.1390G>A (p.Ala464Thr)4221MEN1Uncertain significance2136092866RCV001978494; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722496457224964572249-
NM_001370259.2(MEN1):c.1389G>C (p.Glu463Asp)4221MEN1Uncertain significance1555163863RCV000555201; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722506457225011:g.64572250C>GClinGen:CA381179724C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1388A>C (p.Glu463Ala)4221MEN1Uncertain significance-1RCV002290207|RCV002391402; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722516457225164572251-
NM_001370259.2(MEN1):c.1387G>C (p.Glu463Gln)4221MEN1Uncertain significance748102589RCV001011215|RCV001049805; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722526457225211:g.64572252C>G-
NM_001370259.2(MEN1):c.1387G>A (p.Glu463Lys)4221MEN1Uncertain significance748102589RCV001222478|RCV002393540; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722526457225211:g.64572252C>T-
NM_001370259.2(MEN1):c.1386C>G (p.Ala462=)4221MEN1Likely benign771827808RCV001456315|RCV002392719; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457225364572253NC_000011.9:g.64572253G>CClinGen:CA10582928C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1386C>T (p.Ala462=)4221MEN1Likely benign771827808RCV000466838|RCV002393175; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457225364572253NC_000011.9:g.64572253G>AClinGen:CA060584C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1386C>A (p.Ala462=)4221MEN1Likely benign771827808RCV000542606|RCV002395299; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457225364572253NC_000011.9:g.64572253G>TClinGen:CA060579C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1384G>C (p.Ala462Pro)4221MEN1Uncertain significance1941565557RCV001062954; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722556457225511:g.64572255C>G-
NM_001370259.2(MEN1):c.1375_1382del (p.Ser459fs)4221MEN1Pathogenic1555163883RCV000524622; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457225764572264NC_000011.9:g.64572257_64572264delClinGen:CA658656131C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1381G>C (p.Glu461Gln)4221MEN1Uncertain significance1941566282RCV001315782; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722586457225864572258-
NM_001370259.2(MEN1):c.1380A>G (p.Arg460=)4221MEN1Likely benign2136093385RCV001401510; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722596457225964572259-
NM_001370259.2(MEN1):c.1379G>A (p.Arg460Gln)4221MEN1Uncertain significance200035619RCV000034783|RCV000793682|RCV003343606; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457226064572260NC_000011.9:g.64572260C>TClinGen:CA009162CN517202 not provided;
NM_001370259.2(MEN1):c.1379G>C (p.Arg460Pro)4221MEN1Uncertain significance200035619RCV000456169|RCV003168722; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457226064572260NC_000011.9:g.64572260C>GClinGen:CA16613450C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)4221MEN1Pathogenic104894267RCV000018172|RCV000129526|RCV000182421; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190011645722616457226111:g.64572261G>AClinGen:CA009155,OMIM:613733.0016C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1378C>A (p.Arg460=)4221MEN1Likely benign104894267RCV000632165|RCV003302992; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457226164572261NC_000011.9:g.64572261G>TClinGen:CA475163620C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1378C>G (p.Arg460Gly)4221MEN1Uncertain significance-1RCV003110830; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457226164572261NC_000011.9:g.64572261G>C-
NM_001370259.2(MEN1):c.1377C>T (p.Ser459=)4221MEN1Likely benign2136093597RCV002089792; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722626457226264572262-
NM_001370259.2(MEN1):c.1374G>C (p.Val458=)4221MEN1Likely benign771297499RCV001399223|RCV002384575; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722656457226564572265-
NM_001370259.2(MEN1):c.1374G>A (p.Val458=)4221MEN1Likely benign771297499RCV002206029; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722656457226564572265-
NM_001370259.2(MEN1):c.1370T>G (p.Ile457Arg)4221MEN1Uncertain significance1277747983RCV001034908; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722696457226911:g.64572269A>C-
NM_001370259.2(MEN1):c.1369A>T (p.Ile457Leu)4221MEN1Uncertain significance1021589871RCV002040424; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722706457227064572270-
NM_001370259.2(MEN1):c.1369A>C (p.Ile457Leu)4221MEN1Uncertain significance-1RCV002810274; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457227064572270NC_000011.9:g.64572270T>G-
NC_000011.10:g.64804807_64804818del4221MEN1Pathogenic760199250RCV000018188; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457227264572283OMIM:613733.0032C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1367G>A (p.Arg456His)4221MEN1Conflicting interpretations of pathogenicity372468697RCV000632093|RCV002385985|RCV003237966; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457227264572272NC_000011.9:g.64572272C>TClinGen:CA060552C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1366C>T (p.Arg456Cys)4221MEN1Conflicting interpretations of pathogenicity765306552RCV001051925|RCV002379553; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722736457227311:g.64572273G>A-
NM_001370259.2(MEN1):c.1366C>A (p.Arg456Ser)4221MEN1Uncertain significance-1RCV003470094; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457227364572273-
NM_001370259.2(MEN1):c.1365G>A (p.Val455=)4221MEN1Likely benign-1RCV002705764|RCV003382923; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457227464572274-
NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu)4221MEN1Conflicting interpretations of pathogenicity878855189RCV000230771|RCV001589199; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202116457227564572275NC_000011.9:g.64572275A>TClinGen:CA10582929C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1363G>A (p.Val455Met)4221MEN1Uncertain significance1941570102RCV001246568; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722766457227611:g.64572276C>T-
NM_001370259.2(MEN1):c.1351-3_1359del4221MEN1Likely pathogenic2136094253RCV001377991|RCV001810728; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645722806457229164572279-
NM_001370259.2(MEN1):c.1356dup (p.Gln453fs)4221MEN1Pathogenic2136094331RCV001386127; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722826457228364572282-
NM_001370259.2(MEN1):c.1356G>T (p.Arg452=)4221MEN1Likely benign1180957953RCV000874889|RCV002381998; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645722836457228311:g.64572283C>A-
NM_001370259.2(MEN1):c.1356G>A (p.Arg452=)4221MEN1Likely benign1180957953RCV001505426; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722836457228311:g.64572283C>T-
NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro)4221MEN1Conflicting interpretations of pathogenicity775922507RCV000571203|RCV001377802; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457228464572284NC_000011.9:g.64572284C>GClinGen:CA381179936C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1355G>A (p.Arg452Gln)4221MEN1Conflicting interpretations of pathogenicity775922507RCV000698881|RCV002386229; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457228464572284NC_000011.9:g.64572284C>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)4221MEN1Conflicting interpretations of pathogenicity863224810RCV000200502|RCV000491768; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457228564572285NC_000011.9:g.64572285G>AClinGen:CA339343C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1354C>A (p.Arg452=)4221MEN1Likely benign-1RCV002617958; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457228564572285-
NM_001370259.2(MEN1):c.1353G>A (p.Val451=)4221MEN1Likely benign-1RCV003037786; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457228664572286-
NM_001370259.2(MEN1):c.1351-1G>C4221MEN1Pathogenic794728629RCV000540660; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722896457228911:g.64572289C>GClinGen:CA009149C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1351-1G>A4221MEN1Pathogenic794728629RCV000227993; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457228964572289NC_000011.9:g.64572289C>TClinGen:CA10582930C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1351-1G>T4221MEN1Pathogenic794728629RCV001390118; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722896457228964572289-
NM_001370259.2(MEN1):c.1351-2A>G4221MEN1Pathogenic1060499986RCV000457794; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457229064572290NC_000011.9:g.64572290T>CClinGen:CA16613456C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1351-4C>T4221MEN1Conflicting interpretations of pathogenicity764408631RCV000571993|RCV000679248|RCV001105234|RCV001083658|RCV002267931; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374116457229264572292NC_000011.9:g.64572292G>AClinGen:CA060500C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1351-6G>A4221MEN1Likely benign1555164004RCV000553033; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722946457229411:g.64572294C>TClinGen:CA658656139C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1351-7G>A4221MEN1Uncertain significance1941572921RCV001309308; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722956457229564572295-
NM_001370259.2(MEN1):c.1351-8T>G4221MEN1Likely benign751932519RCV000198633; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457229664572296NC_000011.9:g.64572296A>CClinGen:CA338075C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1351-8T>C4221MEN1Likely benign751932519RCV001397097; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722966457229664572296-
NM_001370259.2(MEN1):c.1351-9C>G4221MEN1Uncertain significance1592634740RCV000801688; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722976457229711:g.64572297G>C-
NM_001370259.2(MEN1):c.1351-10A>G4221MEN1Likely benign757569943RCV000528351; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722986457229811:g.64572298T>CClinGen:CA060446C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1351-10del4221MEN1Likely benign-1RCV002819530; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457229864572298NC_000011.9:g.64572298del-
NM_001370259.2(MEN1):c.1351-11C>T4221MEN1Likely benign1941574613RCV002204302; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645722996457229964572299-
NM_001370259.2(MEN1):c.1351-11C>G4221MEN1Likely benign-1RCV002716334; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457229964572299NC_000011.9:g.64572299G>C-
NM_001370259.2(MEN1):c.1351-12C>T4221MEN1Likely benign2136094913RCV002160052; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645723006457230064572300-
NM_001370259.2(MEN1):c.1351-35ACCTTGCTCTC[3]4221MEN1Likely benign753219137RCV002123136; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645723016457230264572301-
NM_001370259.2(MEN1):c.1351-13C>T4221MEN1Likely benign2136094943RCV002197740; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645723016457230164572301-
NM_001370259.2(MEN1):c.1351-24_1351-14del4221MEN1Likely benign753219137RCV002218121; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645723026457231264572301-
NM_001370259.2(MEN1):c.1351-15T>G4221MEN1Likely benign2136095005RCV002167129; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645723036457230364572303-
NM_001370259.2(MEN1):c.1351-16C>G4221MEN1Likely benign766052368RCV002144400; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645723046457230464572304-
NM_001370259.2(MEN1):c.1351-16C>T4221MEN1Likely benign766052368RCV002107896; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645723046457230464572304-
NM_001370259.2(MEN1):c.1277_1350+28del4221MEN1Likely pathogenic1941598294RCV001047541; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645724786457257911:g.64572478_64572576del-
NM_001370259.2(MEN1):c.1350+19G>A4221MEN1Likely benign1331281610RCV002111497; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645724876457248764572487-
NM_001370259.2(MEN1):c.1350+18A>G4221MEN1Likely benign1190733461RCV002170099; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645724886457248864572488-
NM_001370259.2(MEN1):c.1350+12C>A4221MEN1Likely benign1186166424RCV001994764; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645724946457249464572494-
NM_001370259.2(MEN1):c.1350+1_1350+11del4221MEN1Pathogenic764570645RCV000182441|RCV000632087|RCV002381592; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457249564572505NC_000011.9:g.64572505_64572515delClinGen:CA017625C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1350+7G>A4221MEN1Likely benign2136099113RCV001490747; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645724996457249964572499-
NM_001370259.2(MEN1):c.1350+6G>A4221MEN1Likely benign746077651RCV000687059; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725006457250011:g.64572500C>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1350+4_1350+6del4221MEN1Uncertain significance1565639798RCV000689757; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725006457250211:g.64572500_64572502del-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1350+5G>A4221MEN1Uncertain significance1565639811RCV000701682; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457250164572501NC_000011.9:g.64572501C>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1350+5G>T4221MEN1Uncertain significance1565639811RCV001233104; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725016457250111:g.64572501C>A-
NM_001370259.2(MEN1):c.1350+2T>C4221MEN1Likely pathogenic1555164115RCV000547647; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725046457250411:g.64572504A>GClinGen:CA381180004C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1350+1G>C4221MEN1Pathogenic863223311RCV002245308; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725056457250564572505-
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His)4221MEN1Conflicting interpretations of pathogenicity1592636161RCV001011030|RCV001350334|RCV002236080; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN16937411645725066457250611:g.64572506C>G-
NM_001370259.2(MEN1):c.1350G>A (p.Gln450=)4221MEN1Uncertain significance1592636161RCV001369238; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725066457250664572506-
NM_001370259.2(MEN1):c.1346del (p.Gly449fs)4221MEN1Pathogenic1941603016RCV001239413; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725106457251011:g.64572510_64572510del-
NM_001370259.2(MEN1):c.1344G>A (p.Glu448=)4221MEN1Conflicting interpretations of pathogenicity371339952RCV001298168|RCV002379999; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645725126457251264572512-
NM_001370259.2(MEN1):c.1344G>C (p.Glu448Asp)4221MEN1Uncertain significance371339952RCV001984224; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725126457251264572512-
NM_001370259.2(MEN1):c.1344G>T (p.Glu448Asp)4221MEN1Uncertain significance-1RCV003130896; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457251264572512NC_000011.9:g.64572512C>A-
NM_001370259.2(MEN1):c.1341T>G (p.Phe447Leu)4221MEN1Uncertain significance1325598637RCV000710034|RCV001759431|RCV001868321; NMONDO:MONDO:0015027,MedGen:C4551961, Orphanet:99879|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457251564572515NC_000011.9:g.64572515A>C-
NM_001370259.2(MEN1):c.1341T>C (p.Phe447=)4221MEN1Likely benign1325598637RCV001490015|RCV002384805; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645725156457251564572515-
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser)4221MEN1Likely pathogenic1941604532RCV001238238; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725166457251611:g.64572516A>G-
NM_001370259.2(MEN1):c.1337G>A (p.Arg446His)4221MEN1Uncertain significance1555164143RCV000632094; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457251964572519NC_000011.9:g.64572519C>TClinGen:CA381180095C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1336C>T (p.Arg446Cys)4221MEN1Uncertain significance1592636375RCV000803684; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725206457252011:g.64572520G>A-
NM_001370259.2(MEN1):c.1336C>A (p.Arg446Ser)4221MEN1Uncertain significance1592636375RCV002039999; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725206457252064572520-
NM_001370259.2(MEN1):c.1334del (p.Gly445fs)4221MEN1Pathogenic1565640081RCV000705923; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457252264572522NC_000011.9:g.64572523del-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1333G>T (p.Gly445Cys)4221MEN1Uncertain significance1555164153RCV000632092; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725236457252311:g.64572523C>AClinGen:CA381180110C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1330C>G (p.Leu444Val)4221MEN1Uncertain significance2136100021RCV001969960; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725266457252664572526-
NM_001370259.2(MEN1):c.1329C>T (p.Ser443=)4221MEN1Likely benign2136100094RCV002098762|RCV002382353; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645725276457252764572527-
NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr)4221MEN1Likely pathogenic1060499981RCV000467767; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457252864572528NC_000011.9:g.64572528G>TClinGen:CA16613613C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter)4221MEN1Pathogenic794728654RCV000182456|RCV000812559; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457253264572532NC_000011.9:g.64572532G>AClinGen:CA009136CN517202 not provided;
NM_001370259.2(MEN1):c.1323G>A (p.Val441=)4221MEN1Likely benign1941607604RCV001459350|RCV002384725; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645725336457253364572533-
NM_001370259.2(MEN1):c.1317_1320del (p.Phe439fs)4221MEN1Pathogenic1941607846RCV001204903; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725366457253911:g.64572536_64572539del-
NM_001370259.2(MEN1):c.1314C>G (p.Thr438=)4221MEN1Likely benign897481809RCV000462500|RCV002383842; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457254264572542NC_000011.9:g.64572542G>CClinGen:CA16613458C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1314C>T (p.Thr438=)4221MEN1Likely benign897481809RCV000975483|RCV003169491; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645725426457254211:g.64572542G>A-
NM_001370259.2(MEN1):c.1313C>G (p.Thr438Ser)4221MEN1Uncertain significance-1RCV002639023; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457254364572543NC_000011.9:g.64572543G>C-
NM_001370259.2(MEN1):c.1311dup (p.Thr438fs)4221MEN1Likely pathogenic1555164184RCV000662929; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725446457254511:g.64572544_64572545insG-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1311del (p.Thr438fs)4221MEN1Pathogenic1555164184RCV000806153; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725456457254511:g.64572545_64572545del-
NM_001370259.2(MEN1):c.1310C>T (p.Ala437Val)4221MEN1Uncertain significance1555164188RCV000563093|RCV001344201; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457254664572546NC_000011.9:g.64572546G>AClinGen:CA381180212C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)4221MEN1Pathogenic/Likely pathogenic398124435RCV000318762|RCV000491855|RCV000790656; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457254864572548NC_000011.9:g.64572548C>AClinGen:CA009127C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter)4221MEN1Pathogenic104894260RCV000018167|RCV000518947; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN51720211645725496457254911:g.64572549C>TClinGen:CA009122,OMIM:613733.0011C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)4221MEN1Pathogenic/Likely pathogenic104894259RCV000018166|RCV000255755; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN51720211645725506457255011:g.64572550A>TClinGen:CA009116,UniProtKB:O00255#VAR_005464,OMIM:613733.0010C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)4221MEN1Pathogenic/Likely pathogenic104894259RCV000491105|RCV001390119; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725506457255011:g.64572550A>GClinGen:CA223912292C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1305_1306del (p.Trp436fs)4221MEN1Pathogenic-1RCV003005580; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457255064572551NC_000011.9:g.64572550_64572551del-
NM_001370259.2(MEN1):c.1294_1302del (p.Leu432_Val434del)4221MEN1Uncertain significance1555164218RCV000662920; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725546457256211:g.64572554_64572562del-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1300G>A (p.Val434Met)4221MEN1Uncertain significance767854775RCV001235388|RCV003166453; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645725566457255611:g.64572556C>T-
NM_001370259.2(MEN1):c.1299T>C (p.His433=)4221MEN1Benign540012RCV000153486|RCV000860148; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725576457255711:g.64572557A>GClinGen:CA060368CN169374 not specified;
NM_001370259.2(MEN1):c.1299= (p.His433=)4221MEN1Benign540012RCV001082521|RCV001812213; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900116457255764572557NC_000011.9:g.64572557%3DClinGen:CA349916C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1297C>T (p.His433Tyr)4221MEN1Uncertain significance1941611706RCV001037159; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725596457255911:g.64572559G>A-
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)4221MEN1Conflicting interpretations of pathogenicity138770431RCV000030197|RCV000353672|RCV000379404|RCV000492032|RCV000679247; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190011645725606457256011:g.64572560C>TClinGen:CA009109C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1287G>T (p.Thr429=)4221MEN1Likely benign376598079RCV000232959|RCV002379027; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457256964572569NC_000011.9:g.64572569C>AClinGen:CA060358C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1287G>A (p.Thr429=)4221MEN1Likely benign376598079RCV000535325|RCV001010767; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645725696457256911:g.64572569C>TClinGen:CA060353C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1286C>T (p.Thr429Met)4221MEN1Uncertain significance757803925RCV001971785|RCV002386848; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645725706457257064572570-
NM_001370259.2(MEN1):c.1279_1282dup (p.Pro428fs)4221MEN1Pathogenic2136101131RCV001812583|RCV001869478; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725736457257464572573-
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg)4221MEN1Likely pathogenic1114167528RCV000491702|RCV001002226; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645725756457257511:g.64572575A>TClinGen:CA381180331C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1279A>C (p.Ser427Arg)4221MEN1Conflicting interpretations of pathogenicity1555164245RCV000527282|RCV002377016; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645725776457257711:g.64572577T>GClinGen:CA381180344C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1271AGG[1] (p.Glu425del)4221MEN1Pathogenic/Likely pathogenic2136101303RCV001379321|RCV002225831; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645725806457258264572579-
NM_001370259.2(MEN1):c.1275G>A (p.Glu425=)4221MEN1Likely benign1236745071RCV002170053|RCV003161362; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645725816457258164572581-
NM_001370259.2(MEN1):c.1270G>A (p.Glu424Lys)4221MEN1Uncertain significance1114167477RCV000491730|RCV001344440; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457258664572586NC_000011.9:g.64572586C>TClinGen:CA381180402C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1268G>A (p.Trp423Ter)4221MEN1Pathogenic-1RCV002481160|RCV002574715; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457258864572588NC_000011.9:g.64572588C>T-
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg)4221MEN1Likely pathogenic1555164270RCV000547991|RCV002377015; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645725896457258911:g.64572589A>GClinGen:CA381180426C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1266del (p.Lys422fs)4221MEN1Pathogenic/Likely pathogenic2136101566RCV001972735|RCV002256873; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645725906457259064572589-
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)4221MEN1Pathogenic/Likely pathogenic386134249RCV000030196|RCV000182419|RCV000491986; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457259464572594NC_000011.9:g.64572594C>TClinGen:CA009105,UniProtKB:O00255#VAR_039638C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1257C>T (p.Gly419=)4221MEN1Uncertain significance-1RCV002866559; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457259964572599-
NM_001370259.2(MEN1):c.1253_1256del (p.Asp418fs)4221MEN1Pathogenic1592637081RCV000821590; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726006457260311:g.64572600_64572603del-
NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val)4221MEN1Likely pathogenic1941615895RCV001036366; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726006457260011:g.64572600C>A-
NM_001370259.2(MEN1):c.1255G>A (p.Gly419Ser)4221MEN1Uncertain significance-1RCV003090654|RCV003161721|RCV003410069; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457260164572601NC_000011.9:g.64572601C>T-
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=)4221MEN1Benign2071313RCV000082332|RCV000318798|RCV000491125|RCV000999731|RCV001711261; NMedGen:CN169374|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645726026457260211:g.64572602G>AClinGen:CA009098C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs)4221MEN1Pathogenic/Likely pathogenic1114167542RCV000491544|RCV003476178; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726026457260911:g.64572602_64572609delClinGen:CA645369505C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1254C>G (p.Asp418Glu)4221MEN1Uncertain significance2071313RCV000819849; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726026457260211:g.64572602G>C-
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)4221MEN1Pathogenic104894264RCV000018183|RCV000490854|RCV001269702; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190011645726046457260411:g.64572604C>TClinGen:CA009084,UniProtKB:O00255#VAR_005461,OMIM:613733.0027C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1252G>C (p.Asp418His)4221MEN1Pathogenic104894264RCV000182455|RCV001044491; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457260464572604NC_000011.9:g.64572604C>GClinGen:CA009091CN517202 not provided;
NM_001370259.2(MEN1):c.1251C>T (p.Tyr417=)4221MEN1Likely benign751481164RCV000632167|RCV002413804; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645726056457260511:g.64572605G>AClinGen:CA060323C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1248C>T (p.Phe416=)4221MEN1Likely benign-1RCV002871177; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457260864572608-
NM_001370259.2(MEN1):c.1244G>C (p.Arg415Pro)4221MEN1Conflicting interpretations of pathogenicity1446518998RCV000632109|RCV003148811; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202116457261264572612NC_000011.9:g.64572612C>GClinGen:CA381180568C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1244G>A (p.Arg415Gln)4221MEN1Uncertain significance1446518998RCV000632082|RCV003162804; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645726126457261211:g.64572612C>TClinGen:CA381180571C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)4221MEN1Pathogenic1060499974RCV000456454|RCV000486722|RCV000491295; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457261364572613NC_000011.9:g.64572613G>AClinGen:CA16613380C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1234C>T (p.His412Tyr)4221MEN1Uncertain significance-1RCV002662920; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457262264572622NC_000011.9:g.64572622G>A-
NM_001370259.2(MEN1):c.1234del (p.His412fs)4221MEN1Pathogenic-1RCV003029269; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457262264572622NC_000011.9:g.64572624del-
NM_001370259.2(MEN1):c.1233C>T (p.Ala411=)4221MEN1Likely benign-1RCV003045673|RCV003308440; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457262364572623-
NM_001370259.2(MEN1):c.1231G>T (p.Ala411Ser)4221MEN1Uncertain significance757179911RCV000196723|RCV002363020|RCV003151755; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457262564572625NC_000011.9:g.64572625C>AClinGen:CA336654C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1231G>A (p.Ala411Thr)4221MEN1Uncertain significance757179911RCV000559474|RCV003159746; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MeSH:D030342,MedGen:C0950123116457262564572625NC_000011.9:g.64572625C>TClinGen:CA060315C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro)4221MEN1Likely pathogenic-1RCV003062404; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457262564572625NC_000011.9:g.64572625C>G-
NM_001370259.2(MEN1):c.1230C>T (p.Phe410=)4221MEN1Likely benign878855188RCV000227264|RCV000566957; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457262664572626NC_000011.9:g.64572626G>AClinGen:CA10582931C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1230del (p.Phe410fs)4221MEN1Likely pathogenic-1RCV003233049; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457262664572626-
NM_001370259.2(MEN1):c.1226G>A (p.Cys409Tyr)4221MEN1Uncertain significance1060499988RCV000466185|RCV001010429; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457263064572630NC_000011.9:g.64572630C>TClinGen:CA16613671C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1224_1225insGTCC (p.Cys409fs)4221MEN1Pathogenic1114167524RCV000491151|RCV000546948; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726316457263211:g.64572631_64572632insGGACClinGen:CA645369506C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1222G>C (p.Glu408Gln)4221MEN1Uncertain significance1941620661RCV001211418; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726346457263411:g.64572634C>G-
NM_001370259.2(MEN1):c.1221dup (p.Glu408Ter)4221MEN1Pathogenic2136102861RCV001948215; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726346457263564572634-
NM_001370259.2(MEN1):c.1220_1221del (p.Pro407fs)4221MEN1Pathogenic1592637440RCV000806985|RCV003148867; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN51720211645726356457263611:g.64572635_64572636del-
NM_001370259.2(MEN1):c.1219_1220del (p.Asp406_Pro407insTer)4221MEN1Pathogenic1592637455RCV000803877; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726366457263711:g.64572636_64572637del-
NM_001370259.2(MEN1):c.1219C>G (p.Pro407Ala)4221MEN1Uncertain significance1060499985RCV000457365|RCV003380567; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457263764572637NC_000011.9:g.64572637G>CClinGen:CA16613461C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1214dup (p.Asp406fs)4221MEN1Pathogenic1114167513RCV000491633|RCV001390120; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726416457264211:g.64572641_64572642insTClinGen:CA645369507C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1215G>A (p.Gln405=)4221MEN1Uncertain significance1289898067RCV001053857; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726416457264111:g.64572641C>T-
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter)4221MEN1Pathogenic864622615RCV000205609|RCV000256143|RCV000506315|RCV002354582; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457264364572643NC_000011.9:g.64572643G>AClinGen:CA349734C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=)4221MEN1Benign/Likely benign577268289RCV000632166|RCV001010344|RCV003233032; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0054601,MedGen:C4539685,OMIM:617540116457264464572644NC_000011.9:g.64572644G>CClinGen:CA060309C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1212C>T (p.Leu404=)4221MEN1Likely benign-1RCV002871718; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457264464572644-
NM_001370259.2(MEN1):c.1211T>A (p.Leu404His)4221MEN1Uncertain significance1941623255RCV001215096; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726456457264511:g.64572645A>T-
NM_001370259.2(MEN1):c.1210C>T (p.Leu404Phe)4221MEN1Uncertain significance1060499989RCV000472387; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457264664572646NC_000011.9:g.64572646G>AClinGen:CA16613462C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1207G>A (p.Ala403Thr)4221MEN1Uncertain significance746135199RCV000632136|RCV002343215; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457264964572649NC_000011.9:g.64572649C>TClinGen:CA060300C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1206C>T (p.Ser402=)4221MEN1Likely benign770037856RCV000460839|RCV001010304; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457265064572650NC_000011.9:g.64572650G>AClinGen:CA060291C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1206C>A (p.Ser402=)4221MEN1Likely benign770037856RCV000632148|RCV001080450|RCV002343216; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645726506457265011:g.64572650G>TClinGen:CA060283C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1206del (p.Ala403fs)4221MEN1Pathogenic1941624571RCV001227911; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726506457265011:g.64572650_64572650del-
NM_001370259.2(MEN1):c.1203T>C (p.Gly401=)4221MEN1Likely benign878855187RCV000233483|RCV003165649; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457265364572653NC_000011.9:g.64572653A>GClinGen:CA10582932C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1202G>T (p.Gly401Val)4221MEN1Uncertain significance878855186RCV000229429|RCV002347916; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457265464572654NC_000011.9:g.64572654C>AClinGen:CA10582933C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1202del (p.Gly401fs)4221MEN1Pathogenic1941625647RCV001037823|RCV002346250; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645726546457265411:g.64572654_64572654del-
NM_001370259.2(MEN1):c.1198C>T (p.Gln400Ter)4221MEN1Pathogenic886039419RCV000255350|RCV001198769; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726586457265811:g.64572658G>AClinGen:CA10588528CN517202 not provided;
NM_001370259.2(MEN1):c.1198C>A (p.Gln400Lys)4221MEN1Uncertain significance886039419RCV001339158; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726586457265864572658-
NM_001370259.2(MEN1):c.1195A>G (p.Ser399Gly)4221MEN1Uncertain significance1941626700RCV001308298|RCV002341617; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645726616457266164572661-
NM_001370259.2(MEN1):c.1193dup (p.Ser399fs)4221MEN1Pathogenic1555164430RCV000632080; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457266264572663NC_000011.9:g.64572663dupClinGen:CA658797667C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1194G>C (p.Gln398His)4221MEN1Uncertain significance1592637824RCV000806343; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726626457266211:g.64572662C>G-
NM_001370259.2(MEN1):c.1192C>G (p.Gln398Glu)4221MEN1Uncertain significance886039418RCV001010268|RCV001342349; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726646457266411:g.64572664G>C-
NM_001370259.2(MEN1):c.1191C>T (p.Thr397=)4221MEN1Likely benign1166154585RCV001479991|RCV003159745; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645726656457266511:g.64572665G>AClinGen:CA474982950C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1190C>T (p.Thr397Ile)4221MEN1Uncertain significance1941628720RCV001310029|RCV003416184; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|11645726666457266664572666-
NM_001370259.2(MEN1):c.1186-5T>C4221MEN1Likely benign1941629779RCV001483474; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726756457267564572675-
NM_001370259.2(MEN1):c.1186-6G>A4221MEN1Likely benign576193460RCV000504111|RCV001082032|RCV002255399; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457267664572676NC_000011.9:g.64572676C>TClinGen:CA060265C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1186-7C>T4221MEN1Likely benign587780842RCV000123381; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457267764572677NC_000011.9:g.64572677G>AClinGen:CA009074C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1186-7C>G4221MEN1Likely benign587780842RCV001433482; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726776457267764572677-
NM_001370259.2(MEN1):c.1186-8del4221MEN1Likely benign1555164452RCV000558432; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726786457267811:g.64572678_64572678delClinGen:CA658656144C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1186-9C>T4221MEN1Likely benign1555164455RCV000632160; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726796457267911:g.64572679G>AClinGen:CA658797668C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1186-10C>T4221MEN1Conflicting interpretations of pathogenicity762303621RCV000264959|RCV000375854; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726806457268011:g.64572680G>AClinGen:CA10639643C0020502 Hyperparathyroidism;
NM_001370259.2(MEN1):c.1186-13C>T4221MEN1Likely benign1181170442RCV002190855; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726836457268364572683-
NM_001370259.2(MEN1):c.1186-14T>C4221MEN1Likely benign-1RCV002886013; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457268464572684NC_000011.9:g.64572684A>G-
NM_001370259.2(MEN1):c.1186-15T>A4221MEN1Likely benign1482248002RCV002123886; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726856457268564572685-
NM_001370259.2(MEN1):c.1186-16C>T4221MEN1Likely benign-1RCV003073422; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457268664572686NC_000011.9:g.64572686G>A-
NM_001370259.2(MEN1):c.1186-17C>T4221MEN1Likely benign773542607RCV002118890; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645726876457268764572687-
NM_001370259.2(MEN1):c.1185+19A>G4221MEN1Likely benign1456615213RCV002084325; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645730886457308864573088-
NM_001370259.2(MEN1):c.1185+18C>A4221MEN1Likely benign780329058RCV002178367; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645730896457308964573089-
NM_001370259.2(MEN1):c.1185+18C>T4221MEN1Conflicting interpretations of pathogenicity780329058RCV002123811|RCV002337347; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645730896457308964573089-
NM_001370259.2(MEN1):c.1185+15C>G4221MEN1Likely benign2136107680RCV002151076; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645730926457309264573092-
NM_001370259.2(MEN1):c.1185+13A>G4221MEN1Likely benign-1RCV003033015; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457309464573094NC_000011.9:g.64573094T>C-
NM_001370259.2(MEN1):c.1185+12G>A4221MEN1Conflicting interpretations of pathogenicity373609932RCV000209727|RCV000608324|RCV001529469|RCV001762454; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645730956457309511:g.64573095C>TClinGen:CA060120C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1185+12G>C4221MEN1Likely benign373609932RCV002172824; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645730956457309564573095-
NM_001370259.2(MEN1):c.1185+10dup4221MEN1Likely benign2136107816RCV002219872; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645730966457309764573096-
NC_000011.9:g.(?_64573097)_(64575581_?)del4221MEN1Pathogenic-1RCV003123029; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457309764575581-
NM_001370259.2(MEN1):c.1185+6A>G4221MEN1Uncertain significance2136107870RCV001973727; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731016457310164573101-
NM_001370259.2(MEN1):c.1185+5A>G4221MEN1Conflicting interpretations of pathogenicity748700116RCV000696574|RCV002334322; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457310264573102NC_000011.9:g.64573102T>C-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1185+4A>G4221MEN1Uncertain significance863224809RCV000200321|RCV002336545|RCV003407711; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|11645731036457310311:g.64573103T>CClinGen:CA339242C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1185+3G>A4221MEN1Uncertain significance1199137996RCV001303240; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731046457310464573104-
NM_001370259.2(MEN1):c.1185+1G>A4221MEN1Uncertain significance1941661315RCV001253238; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731066457310611:g.64573106C>T-
NM_001370259.2(MEN1):c.1182C>T (p.Ser394=)4221MEN1Likely benign1396452284RCV000976292|RCV002327199; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731106457311011:g.64573110G>A-
NM_001370259.2(MEN1):c.1181G>C (p.Ser394Thr)4221MEN1Uncertain significance934222398RCV000472591; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457311164573111NC_000011.9:g.64573111C>GClinGen:CA16613381C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1177C>G (p.Gln393Glu)4221MEN1Uncertain significance1060499984RCV000472220|RCV000708704; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457311564573115NC_000011.9:g.64573115G>CClinGen:CA16613386C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter)4221MEN1Pathogenic1060499984RCV000491380|RCV001203901; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457311564573115NC_000011.9:g.64573115G>AClinGen:CA381182053C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1174dup (p.Glu392fs)4221MEN1Likely pathogenic386134247RCV000030194; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731176457311811:g.64573117_64573118insCClinGen:CA260440C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1174del (p.Glu392fs)4221MEN1Pathogenic/Likely pathogenic386134247RCV000255795|RCV000714231; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731186457311811:g.64573118_64573118delClinGen:CA10588530CN517202 not provided;
NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter)4221MEN1Pathogenic772588551RCV000476658|RCV000523599|RCV002329011; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457311864573118NC_000011.9:g.64573118C>AClinGen:CA16613679C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1173G>A (p.Gly391=)4221MEN1Likely benign1592639850RCV001417535; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731196457311911:g.64573119C>T-
NM_001370259.2(MEN1):c.1172G>A (p.Gly391Glu)4221MEN1Uncertain significance998827212RCV001300942|RCV002327650; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731206457312064573120-
NM_001370259.2(MEN1):c.1170G>C (p.Pro390=)4221MEN1Likely benign587780841RCV000123380|RCV000562906; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457312264573122NC_000011.9:g.64573122C>GClinGen:CA009055C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)4221MEN1Benign/Likely benign587780841RCV000199870|RCV000569118|RCV000729820|RCV001706182; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900116457312264573122NC_000011.9:g.64573122C>TClinGen:CA060100C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1170G>T (p.Pro390=)4221MEN1Likely benign587780841RCV001504846|RCV002329639; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731226457312264573122-
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu)4221MEN1Conflicting interpretations of pathogenicity761102084RCV000457486|RCV000568225|RCV000994656|RCV001821219; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:CN16937411645731236457312311:g.64573123G>AClinGen:CA060092C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1169C>G (p.Pro390Arg)4221MEN1Uncertain significance761102084RCV000632078; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457312364573123NC_000011.9:g.64573123G>CClinGen:CA060079C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1169C>A (p.Pro390Gln)4221MEN1Uncertain significance761102084RCV001867307; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731236457312364573123-
NM_001370259.2(MEN1):c.1167G>C (p.Arg389=)4221MEN1Likely benign1194388602RCV000546169|RCV003380599; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731256457312511:g.64573125C>GClinGen:CA474983082C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln)4221MEN1Conflicting interpretations of pathogenicity775267651RCV000203887|RCV001017497; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457312664573126NC_000011.9:g.64573126C>TClinGen:CA060070C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1166G>C (p.Arg389Pro)4221MEN1Uncertain significance775267651RCV000800804|RCV001017498; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731266457312611:g.64573126C>G-
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)4221MEN1Conflicting interpretations of pathogenicity566593066RCV000463517|RCV001017493; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457312764573127NC_000011.9:g.64573127G>AClinGen:CA16613614C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1163A>G (p.Glu388Gly)4221MEN1Uncertain significance-1RCV002321387|RCV003094501; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731296457312964573129-
NM_001370259.2(MEN1):c.1159G>A (p.Glu387Lys)4221MEN1Uncertain significance773978650RCV000467350|RCV002374736; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457313364573133NC_000011.9:g.64573133C>TClinGen:CA060044C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1158C>T (p.Gly386=)4221MEN1Uncertain significance794728653RCV000457527|RCV001010040; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457313464573134NC_000011.9:g.64573134G>AClinGen:CA009049C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1158C>G (p.Gly386=)4221MEN1Likely benign794728653RCV001401970; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731346457313411:g.64573134G>C-
NM_001370259.2(MEN1):c.1158C>A (p.Gly386=)4221MEN1Likely benign794728653RCV001506908; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731346457313464573134-
NM_001370259.2(MEN1):c.1157G>A (p.Gly386Asp)4221MEN1Conflicting interpretations of pathogenicity761360623RCV000204534|RCV000570220; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457313564573135NC_000011.9:g.64573135C>TClinGen:CA060027C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1157G>C (p.Gly386Ala)4221MEN1Uncertain significance761360623RCV001947742|RCV002361232; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731356457313564573135-
NM_001370259.2(MEN1):c.1156G>A (p.Gly386Ser)4221MEN1Uncertain significance767595183RCV001216689|RCV002365975; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731366457313611:g.64573136C>T-
NM_001370259.2(MEN1):c.1155G>A (p.Ala385=)4221MEN1Likely benign201091135RCV000198409|RCV000561075|RCV001675667; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457313764573137NC_000011.9:g.64573137C>TClinGen:CA060010C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1155G>T (p.Ala385=)4221MEN1Likely benign201091135RCV001401226; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731376457313764573137-
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)4221MEN1Conflicting interpretations of pathogenicity1298484645RCV000632086|RCV001010012|RCV001703217; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457313864573138NC_000011.9:g.64573138G>AClinGen:CA381182214C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1149G>A (p.Leu383=)4221MEN1Likely benign1555164667RCV000632153|RCV002460097; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457314364573143NC_000011.9:g.64573143C>TClinGen:CA474983096C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1147C>T (p.Leu383=)4221MEN1Likely benign2136109092RCV001495679|RCV002456886; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731456457314564573145-
NM_001370259.2(MEN1):c.1144T>C (p.Leu382=)4221MEN1Likely benign2136109118RCV002156364; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731486457314864573148-
NM_001370259.2(MEN1):c.1139C>G (p.Ala380Gly)4221MEN1Uncertain significance1565642307RCV000695794; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457315364573153NC_000011.9:g.64573153G>C-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1138G>A (p.Ala380Thr)4221MEN1Uncertain significance1225964479RCV001201836|RCV002322000; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731546457315411:g.64573154C>T-
NM_001370259.2(MEN1):c.1136dup (p.Ala380fs)4221MEN1Pathogenic1592640181RCV001002347; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731556457315611:g.64573155_64573156insG-
NM_001370259.2(MEN1):c.1137A>C (p.Ala379=)4221MEN1Likely benign2136109300RCV002185287; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731556457315564573155-
NM_001370259.2(MEN1):c.1136C>A (p.Ala379Glu)4221MEN1Uncertain significance1592640172RCV001009941|RCV001215725; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731566457315611:g.64573156G>T-
NM_001370259.2(MEN1):c.1135G>A (p.Ala379Thr)4221MEN1Uncertain significance2136109409RCV002002685; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731576457315764573157-
NM_001370259.2(MEN1):c.1131G>A (p.Lys377=)4221MEN1Likely benign1555164674RCV000632175; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457316164573161NC_000011.9:g.64573161C>TClinGen:CA474983108C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1130A>G (p.Lys377Arg)4221MEN1Uncertain significance766075737RCV000632138|RCV003162805; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457316264573162NC_000011.9:g.64573162T>CClinGen:CA059992C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1128G>A (p.Leu376=)4221MEN1Likely benign754129242RCV000911187|RCV001017414; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731646457316411:g.64573164C>T-
NM_001370259.2(MEN1):c.1126C>A (p.Leu376Met)4221MEN1Uncertain significance-1RCV003470100; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457316664573166-
NM_001370259.2(MEN1):c.1125G>C (p.Leu375=)4221MEN1Likely benign867481093RCV002193460; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731676457316764573167-
NM_001370259.2(MEN1):c.1125G>A (p.Leu375=)4221MEN1Likely benign867481093RCV002140184|RCV002434564; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731676457316764573167-
NM_001370259.2(MEN1):c.1124T>A (p.Leu375Gln)4221MEN1Uncertain significance1941668371RCV001234170; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731686457316811:g.64573168A>T-
NM_001370259.2(MEN1):c.1123C>G (p.Leu375Val)4221MEN1Uncertain significance1211957325RCV000575830|RCV000632112; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457316964573169NC_000011.9:g.64573169G>CClinGen:CA381182444C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1121A>G (p.Asn374Ser)4221MEN1Conflicting interpretations of pathogenicity755168633RCV001317315|RCV003166824; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731716457317164573171-
NM_001370259.2(MEN1):c.1121A>C (p.Asn374Thr)4221MEN1Uncertain significance-1RCV002440066|RCV003465767; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731716457317164573171-
NM_001370259.2(MEN1):c.1119C>T (p.Pro373=)4221MEN1Likely benign535417698RCV001402305|RCV002434127; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731736457317311:g.64573173G>A-
NM_001370259.2(MEN1):c.1119C>A (p.Pro373=)4221MEN1Likely benign535417698RCV000877414|RCV001009910; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731736457317311:g.64573173G>T-
NM_001370259.2(MEN1):c.1119del (p.Asn374fs)4221MEN1Pathogenic-1RCV002795935; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457317364573173NC_000011.9:g.64573176del-
NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser)4221MEN1Likely pathogenic794728627RCV000709158; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731756457317511:g.64573175G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1117C>A (p.Pro373Thr)4221MEN1Uncertain significance794728627RCV001951636; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731756457317564573175-
NM_001370259.2(MEN1):c.1111G>A (p.Val371Ile)4221MEN1Uncertain significance1941669758RCV001317008|RCV003166821; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645731816457318164573181-
NM_001370259.2(MEN1):c.1106A>G (p.Asn369Ser)4221MEN1Uncertain significance1368034727RCV001216536; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731866457318611:g.64573186T>C-
NM_001370259.2(MEN1):c.1104C>A (p.Ala368=)4221MEN1Likely benign-1RCV002865984; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457318864573188-
NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp)4221MEN1Pathogenic1555164707RCV000659846; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731896457318911:g.64573189G>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1102del (p.Ala368fs)4221MEN1Likely pathogenic2136110242RCV001532962; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731906457319064573189-
NM_001370259.2(MEN1):c.1100T>C (p.Val367Ala)4221MEN1Uncertain significance2136110269RCV001969587; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731926457319264573192-
NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile)4221MEN1Conflicting interpretations of pathogenicity758404089RCV000456726|RCV000569841|RCV001289028; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457319364573193NC_000011.9:g.64573193C>TClinGen:CA059937C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)4221MEN1Conflicting interpretations of pathogenicity149383809RCV000161928|RCV000567306|RCV002267897; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374116457319464573194NC_000011.9:g.64573194T>AClinGen:CA009023C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1095T>C (p.Phe365=)4221MEN1Likely benign1592640464RCV001487089; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731976457319711:g.64573197A>G-
NM_001370259.2(MEN1):c.1093T>C (p.Phe365Leu)4221MEN1Uncertain significance1592640479RCV000813316; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645731996457319911:g.64573199A>G-
NM_001370259.2(MEN1):c.1092C>A (p.Phe364Leu)4221MEN1Uncertain significance863224808RCV000196551; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457320064573200NC_000011.9:g.64573200G>TClinGen:CA336516C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)4221MEN1Pathogenic869025185RCV000018165|RCV000255250|RCV000491660; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457320364573205NC_000011.9:g.64573205_64573207delOMIM:613733.0009,ClinGen:CA356504C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1089G>A (p.Glu363=)4221MEN1Likely benign2136110455RCV002086318; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732036457320364573203-
NM_001370259.2(MEN1):c.1089G>C (p.Glu363Asp)4221MEN1Uncertain significance-1RCV002443694|RCV003098757; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732036457320364573203-
NM_001370259.2(MEN1):c.1086G>A (p.Lys362=)4221MEN1Likely benign1941672084RCV001506770|RCV002424948; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645732066457320664573206-
NM_001370259.2(MEN1):c.1084A>G (p.Lys362Glu)4221MEN1Uncertain significance1941672276RCV001300659; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732086457320864573208-
NM_001370259.2(MEN1):c.1083C>T (p.Tyr361=)4221MEN1Likely benign1168237114RCV000632151|RCV002431866; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457320964573209NC_000011.9:g.64573209G>AClinGen:CA474983144C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=)4221MEN1Likely benign147331514RCV000506264|RCV000574517|RCV000988572|RCV001529229; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900116457321264573212NC_000011.9:g.64573212G>AClinGen:CA059924C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1072GAG[1] (p.Glu359del)4221MEN1Conflicting interpretations of pathogenicity1060499971RCV000463375; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457321564573217NC_000011.9:g.64573215CTC[1]ClinGen:CA16613681C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1077G>T (p.Glu359Asp)4221MEN1Uncertain significance-1RCV002299860; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732156457321564573215-
NM_001370259.2(MEN1):c.1076A>C (p.Glu359Ala)4221MEN1Uncertain significance-1RCV002297211; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732166457321664573216-
NM_001370259.2(MEN1):c.1074G>A (p.Glu358=)4221MEN1Likely benign776834299RCV001431346|RCV002418428; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457321864573218NC_000011.9:g.64573218C>TClinGen:CA059916C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1072G>A (p.Glu358Lys)4221MEN1Uncertain significance1941674204RCV001924228; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732206457322064573220-
NM_001370259.2(MEN1):c.1071C>T (p.Asp357=)4221MEN1Likely benign371964966RCV000465120|RCV000572706; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457322164573221NC_000011.9:g.64573221G>AClinGen:CA059908C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1069G>A (p.Asp357Asn)4221MEN1Uncertain significance768448073RCV000793965; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732236457322311:g.64573223C>T-
NM_001370259.2(MEN1):c.1065G>C (p.Arg355=)4221MEN1Likely benign1592640719RCV001443114|RCV002409207; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645732276457322711:g.64573227C>G-
NM_001370259.2(MEN1):c.1065G>T (p.Arg355=)4221MEN1Likely benign1592640719RCV001482936|RCV002414171; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645732276457322764573227-
NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln)4221MEN1Conflicting interpretations of pathogenicity1114167474RCV000491631|RCV000761778|RCV000797646; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457322864573228NC_000011.9:g.64573228C>TClinGen:CA381182908C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1063del (p.Arg355fs)4221MEN1Likely pathogenic386134246RCV000030193; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732296457322911:g.64573229_64573229delClinGen:CA009011C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1063C>A (p.Arg355=)4221MEN1Uncertain significance863224807RCV000200097; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457322964573229NC_000011.9:g.64573229G>TClinGen:CA339093C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1063C>T (p.Arg355Trp)4221MEN1Uncertain significance863224807RCV000632081|RCV001009797; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457322964573229NC_000011.9:g.64573229G>AClinGen:CA381182913C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1063C>G (p.Arg355Gly)4221MEN1Uncertain significance863224807RCV001204111; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732296457322911:g.64573229G>C-
NM_001370259.2(MEN1):c.1062C>A (p.Cys354Ter)4221MEN1Pathogenic104894265RCV000018185; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732306457323011:g.64573230G>TClinGen:CA009004,OMIM:613733.0029C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1062C>T (p.Cys354=)4221MEN1Likely benign104894265RCV001436365; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732306457323011:g.64573230G>A-
NM_001370259.2(MEN1):c.1061G>A (p.Cys354Tyr)4221MEN1Uncertain significance904261642RCV000551988|RCV002413455; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645732316457323111:g.64573231C>TClinGen:CA381182936C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1061G>T (p.Cys354Phe)4221MEN1Uncertain significance904261642RCV001896509|RCV002407013; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645732316457323164573231-
NM_001370259.2(MEN1):c.1060T>C (p.Cys354Arg)4221MEN1Uncertain significance371503251RCV000574233|RCV000699682; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732326457323211:g.64573232A>GClinGen:CA059880C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1059C>T (p.Tyr353=)4221MEN1Likely benign1592640846RCV001433291; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732336457323311:g.64573233G>A-
NM_001370259.2(MEN1):c.1058_1059insTG (p.Cys354fs)4221MEN1Pathogenic2136111335RCV001382783; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732336457323464573233-
NM_001370259.2(MEN1):c.1058A>C (p.Tyr353Ser)4221MEN1Uncertain significance1592640870RCV000816807; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732346457323411:g.64573234T>G-
NM_001370259.2(MEN1):c.1056C>T (p.Asn352=)4221MEN1Likely benign1565642741RCV001417821; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732366457323664573236-
NM_001370259.2(MEN1):c.1055A>G (p.Asn352Ser)4221MEN1Uncertain significance-1RCV003461849; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457323764573237-
NM_001370259.2(MEN1):c.1050-2A>T4221MEN1Pathogenic1565642765RCV000698599; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457324464573244NC_000011.9:g.64573244T>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1050-2A>G4221MEN1Pathogenic1565642765RCV000801108; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732446457324411:g.64573244T>C-
NM_001370259.2(MEN1):c.1050-3C>T4221MEN1Uncertain significance2136111597RCV001927281|RCV003167001; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645732456457324564573245-
NM_001370259.2(MEN1):c.1050-3C>G4221MEN1Conflicting interpretations of pathogenicity-1RCV003225588|RCV003395729|RCV003466041; NMedGen:C3661900||MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457324564573245-
NM_001370259.2(MEN1):c.1050-7C>T4221MEN1Likely benign1000294408RCV001452455; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732496457324964573249-
NM_001370259.2(MEN1):c.1050-19G>C4221MEN1Likely benign1322811280RCV002178274; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732616457326164573261-
NM_001370259.2(MEN1):c.1050-19G>A4221MEN1Likely benign-1RCV002801458; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457326164573261NC_000011.9:g.64573261C>T-
NM_001370259.2(MEN1):c.1050-20A>G4221MEN1Likely benign2136111796RCV002214938; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645732626457326264573262-
NM_001370259.2(MEN1):c.623_1050-143del4221MEN1Pathogenic-1RCV000822934; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645733856457539411:g.64573385_64573483del-
NM_001370259.2(MEN1):c.940_1050-227del4221MEN1Pathogenic-1RCV000556751; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457346964573813NC_000011.9:g.64573469_64573813delClinGen:CA658656152C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1049+17T>G4221MEN1Likely benign-1RCV003066425; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457368764573687NC_000011.9:g.64573687A>C-
NM_001370259.2(MEN1):c.1049+15A>G4221MEN1Likely benign-1RCV002770105; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457368964573689NC_000011.9:g.64573689T>C-
NM_001370259.2(MEN1):c.1049+13C>T4221MEN1Likely benign533537007RCV001971702; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645736916457369164573691-
NM_001370259.2(MEN1):c.1049+13C>A4221MEN1Likely benign-1RCV003048647; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457369164573691NC_000011.9:g.64573691G>T-
NM_001370259.2(MEN1):c.1049+12C>A4221MEN1Likely benign-1RCV003070020; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457369264573692NC_000011.9:g.64573692G>T-
NM_001370259.2(MEN1):c.1049+11C>A4221MEN1Likely benign1229329826RCV002205950; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645736936457369364573693-
NM_001370259.2(MEN1):c.1049+11C>T4221MEN1Likely benign-1RCV002791668; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457369364573693NC_000011.9:g.64573693G>A-
NM_001370259.2(MEN1):c.1049+9C>T4221MEN1Conflicting interpretations of pathogenicity200517349RCV000030192|RCV000609911|RCV000679246|RCV001108572|RCV002255260; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645736956457369511:g.64573695G>AClinGen:CA008998C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1049+9C>A4221MEN1Likely benign200517349RCV000457328; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457369564573695NC_000011.9:g.64573695G>TClinGen:CA16613615C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1049+9C>G4221MEN1Likely benign200517349RCV000555401; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645736956457369511:g.64573695G>CClinGen:CA223914371C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1049+8T>C4221MEN1Likely benign2136117570RCV002208069; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645736966457369664573696-
NM_001370259.2(MEN1):c.1049+6G>A4221MEN1Uncertain significance-1RCV002658366; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457369864573698NC_000011.9:g.64573698C>T-
NM_001370259.2(MEN1):c.1049+2T>C4221MEN1Likely pathogenic1555164946RCV000659845; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457370264573702NC_000011.9:g.64573702A>G-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1049+1G>A4221MEN1Pathogenic1114167489RCV000632121|RCV002404747|RCV003330850; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161116457370364573703NC_000011.9:g.64573703C>TClinGen:CA381183128C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1045del (p.Gln349fs)4221MEN1Pathogenic2136117722RCV001385000; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737086457370864573707-
NM_001370259.2(MEN1):c.1045C>T (p.Gln349Ter)4221MEN1Pathogenic2136117686RCV002244089; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737086457370864573708-
NM_001370259.2(MEN1):c.1040T>A (p.Val347Asp)4221MEN1Uncertain significance1592642971RCV000799507; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737136457371311:g.64573713A>T-
NM_001370259.2(MEN1):c.1038T>C (p.Thr346=)4221MEN1Likely benign1414483292RCV001462071|RCV002396090; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645737156457371564573715-
NM_001370259.2(MEN1):c.1036A>G (p.Thr346Ala)4221MEN1Uncertain significance2136117914RCV001944757; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737176457371764573717-
NM_001370259.2(MEN1):c.1036A>T (p.Thr346Ser)4221MEN1Uncertain significance2136117914RCV002008636|RCV003170384; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645737176457371764573717-
NM_001370259.2(MEN1):c.1035C>T (p.Ala345=)4221MEN1Likely benign-1RCV002953661; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457371864573718-
NM_001370259.2(MEN1):c.1032G>A (p.Thr344=)4221MEN1Likely benign760183888RCV000543972|RCV000562124|RCV003114656; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190011645737216457372111:g.64573721C>TClinGen:CA059715C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1032G>C (p.Thr344=)4221MEN1Likely benign760183888RCV001467684; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737216457372164573721-
NM_001370259.2(MEN1):c.1031C>T (p.Thr344Met)4221MEN1Uncertain significance1259681826RCV000632122|RCV003380646; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457372264573722NC_000011.9:g.64573722G>AClinGen:CA381183208C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1031C>G (p.Thr344Arg)4221MEN1Pathogenic1259681826RCV001368588; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737226457372264573722-
NM_001370259.2(MEN1):c.1029C>G (p.Asp343Glu)4221MEN1Uncertain significance878855185RCV000226644; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457372464573724NC_000011.9:g.64573724G>CClinGen:CA10582934C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1027G>A (p.Asp343Asn)4221MEN1Uncertain significance2136118303RCV002038445|RCV002386931; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645737266457372664573726-
NM_001370259.2(MEN1):c.1026G>A (p.Ala342=)4221MEN1Likely benign878855184RCV000232744|RCV000573264|RCV003401187; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457372764573727NC_000011.9:g.64573727C>TClinGen:CA10582935C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1026G>C (p.Ala342=)4221MEN1Likely benign878855184RCV001490737|RCV003160982; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645737276457372764573727-
NM_001370259.2(MEN1):c.1025C>T (p.Ala342Val)4221MEN1Uncertain significance377715802RCV000531650|RCV002384057; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457372864573728NC_000011.9:g.64573728G>AClinGen:CA059707C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1024del (p.Ala342fs)4221MEN1Pathogenic1555164986RCV000509058; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737296457372911:g.64573729_64573729delOMIM:613733.0008,ClinGen:CA658653653C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro)4221MEN1Likely pathogenic776561706RCV000632117; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457372964573729NC_000011.9:g.64573729C>GClinGen:CA381183224C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1018_1024del (p.Ala340fs)4221MEN1Pathogenic1941717148RCV001203263; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737296457373511:g.64573729_64573735del-
NM_001370259.2(MEN1):c.1023G>C (p.Trp341Cys)4221MEN1Uncertain significance-1RCV003121439; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457373064573730NC_000011.9:g.64573730C>G-
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter)4221MEN1Pathogenic1114167482RCV000491036|RCV000538522; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457373164573731NC_000011.9:g.64573731C>TClinGen:CA381183230C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1020C>A (p.Ala340=)4221MEN1Likely benign1060503796RCV000474535|RCV000564612; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457373364573733NC_000011.9:g.64573733G>TClinGen:CA16613683C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1019C>G (p.Ala340Gly)4221MEN1Uncertain significance2136118671RCV002049280; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737346457373464573734-
NM_001370259.2(MEN1):c.1018G>C (p.Ala340Pro)4221MEN1Uncertain significance2136118718RCV001969883; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737356457373564573735-
NM_001370259.2(MEN1):c.1017G>A (p.Gln339=)4221MEN1Likely benign-1RCV002861761; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457373664573736-
NM_001370259.2(MEN1):c.1013dup (p.Gln339fs)4221MEN1Likely pathogenic386134245RCV000030191; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737396457374011:g.64573739_64573740insAClinGen:CA260439C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1013del (p.Leu338fs)4221MEN1Pathogenic2136118927RCV001382910; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737406457374064573739-
NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val)4221MEN1Conflicting interpretations of pathogenicity759337318RCV000468728|RCV001016949|RCV003231485; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457374164573741NC_000011.9:g.64573741G>CClinGen:CA059690C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1011C>G (p.Ala337=)4221MEN1Likely benign-1RCV002843913; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457374264573742-
NM_001370259.2(MEN1):c.1007_1009dup (p.Glu336dup)4221MEN1Uncertain significance1114167529RCV000491786|RCV001041721; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457374364573744NC_000011.9:g.64573745_64573747dupClinGen:CA645369577C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp)4221MEN1Pathogenic2136118998RCV001382548|RCV002319708; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645737436457374364573743-
NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro)4221MEN1Likely pathogenic2071312RCV000467805; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457374464573744NC_000011.9:g.64573744C>GClinGen:CA16613621C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1006dup (p.Glu336fs)4221MEN1Pathogenic2136119153RCV001380466; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737466457374764573746-
NM_001370259.2(MEN1):c.1004G>A (p.Arg335Gln)4221MEN1Uncertain significance764998893RCV000466812|RCV002402228; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457374964573749NC_000011.9:g.64573749C>TClinGen:CA059675C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1003C>A (p.Arg335=)4221MEN1Conflicting interpretations of pathogenicity371364206RCV000246806|RCV000461335|RCV000568413|RCV001108573; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502116457375064573750NC_000011.9:g.64573750G>TClinGen:CA059657C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1003C>T (p.Arg335Trp)4221MEN1Uncertain significance371364206RCV000525951|RCV001009661; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645737506457375011:g.64573750G>AClinGen:CA381183266C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.1003C>G (p.Arg335Gly)4221MEN1Uncertain significance371364206RCV002010611|RCV002398081; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645737506457375064573750-
NM_001370259.2(MEN1):c.999T>C (p.Asn333=)4221MEN1Likely benign763133775RCV000469063|RCV000563547|RCV002282163; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374116457375464573754NC_000011.9:g.64573754A>GClinGen:CA061927C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.996C>T (p.Arg332=)4221MEN1Likely benign2136119464RCV001392528; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737576457375764573757-
NM_001370259.2(MEN1):c.995G>A (p.Arg332His)4221MEN1Uncertain significance2136119513RCV001367135; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737586457375864573758-
NM_001370259.2(MEN1):c.995G>T (p.Arg332Leu)4221MEN1Uncertain significance-1RCV002654367|RCV003308218; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457375864573758NC_000011.9:g.64573758C>A-
NM_001370259.2(MEN1):c.994C>T (p.Arg332Cys)4221MEN1Uncertain significance1941721650RCV001235174; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737596457375911:g.64573759G>A-
NM_001370259.2(MEN1):c.993C>T (p.Asn331=)4221MEN1Likely benign370176253RCV000457874|RCV000490867; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457376064573760NC_000011.9:g.64573760G>AClinGen:CA061914C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.990C>A (p.Arg330=)4221MEN1Likely benign1359880787RCV002136434|RCV003382857; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645737636457376364573763-
NM_001370259.2(MEN1):c.990C>T (p.Arg330=)4221MEN1Likely benign1359880787RCV002139327; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737636457376364573763-
NM_001370259.2(MEN1):c.989G>T (p.Arg330Leu)4221MEN1Uncertain significance373135175RCV000460980; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457376464573764NC_000011.9:g.64573764C>AClinGen:CA16613625C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.989G>C (p.Arg330Pro)4221MEN1Uncertain significance373135175RCV000527000; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457376464573764NC_000011.9:g.64573764C>GClinGen:CA381183296C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.989G>A (p.Arg330His)4221MEN1Uncertain significance373135175RCV000573622|RCV000632116|RCV003332206; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645737646457376411:g.64573764C>TClinGen:CA061906C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.988C>T (p.Arg330Cys)4221MEN1Uncertain significance1565644005RCV000691929|RCV001019861; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645737656457376511:g.64573765G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.988C>G (p.Arg330Gly)4221MEN1Uncertain significance1565644005RCV001216471; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737656457376511:g.64573765G>C-
NM_001370259.2(MEN1):c.984C>T (p.His328=)4221MEN1Likely benign757323408RCV000938389; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737696457376911:g.64573769G>A-
NM_001370259.2(MEN1):c.970_984del (p.Leu324_His328del)4221MEN1Likely pathogenic1941723156RCV001307430; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737696457378364573768-
NM_001370259.2(MEN1):c.982C>G (p.His328Asp)4221MEN1Uncertain significance794727882RCV000179998|RCV000632139; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737716457377111:g.64573771G>CClinGen:CA009664C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.982C>A (p.His328Asn)4221MEN1Uncertain significance794727882RCV000690773; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457377164573771NC_000011.9:g.64573771G>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.982C>T (p.His328Tyr)4221MEN1Uncertain significance794727882RCV002034260; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737716457377164573771-
NM_001370259.2(MEN1):c.981C>T (p.Tyr327=)4221MEN1Likely benign1592643488RCV000865369|RCV002372421; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645737726457377211:g.64573772G>A-
NM_001370259.2(MEN1):c.981C>G (p.Tyr327Ter)4221MEN1Pathogenic1592643488RCV001960715; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737726457377264573772-
NM_001370259.2(MEN1):c.980A>G (p.Tyr327Cys)4221MEN1Uncertain significance377403837RCV000695160|RCV003117492; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900116457377364573773NC_000011.9:g.64573773T>C-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.978C>T (p.Gly326=)4221MEN1Likely benign1555165071RCV000550736|RCV002384059; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457377564573775NC_000011.9:g.64573775G>AClinGen:CA474983321C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.974C>A (p.Ala325Asp)4221MEN1Uncertain significance370840265RCV000533724; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737796457377911:g.64573779G>TClinGen:CA381183329C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.972G>A (p.Leu324=)4221MEN1Uncertain significance1592643568RCV000809013; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737816457378111:g.64573781C>T-
NM_001370259.2(MEN1):c.972G>C (p.Leu324=)4221MEN1Likely benign1592643568RCV001446383; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737816457378164573781-
NM_001370259.2(MEN1):c.970del (p.Leu324fs)4221MEN1Pathogenic/Likely pathogenic1114167508RCV000491495|RCV003464041; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737836457378311:g.64573783_64573783delClinGen:CA645369580C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter)4221MEN1Pathogenic750904332RCV000469199|RCV000492010|RCV001269821; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457378464573784NC_000011.9:g.64573784G>TClinGen:CA16613392C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.969C>G (p.Tyr323Ter)4221MEN1Pathogenic750904332RCV000521767|RCV000632110; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737846457378411:g.64573784G>CClinGen:CA381183338C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.969C>T (p.Tyr323=)4221MEN1Likely benign-1RCV002387007|RCV003094857; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457378464573784-
NM_001370259.2(MEN1):c.966G>A (p.Met322Ile)4221MEN1Uncertain significance947594206RCV000707510; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737876457378711:g.64573787C>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.965T>C (p.Met322Thr)4221MEN1Uncertain significance1941725569RCV001108575|RCV001108574; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C002050211645737886457378811:g.64573788A>G-
NM_001370259.2(MEN1):c.965T>G (p.Met322Arg)4221MEN1Uncertain significance1941725569RCV001296671; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737886457378864573788-
NM_001370259.2(MEN1):c.965T>A (p.Met322Lys)4221MEN1Uncertain significance-1RCV002725447; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457378864573788NC_000011.9:g.64573788A>T-
NM_001370259.2(MEN1):c.964A>T (p.Met322Leu)4221MEN1Uncertain significance1555165089RCV000557965|RCV002377019; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645737896457378911:g.64573789T>AClinGen:CA381183350C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.964A>G (p.Met322Val)4221MEN1Uncertain significance1555165089RCV000632095; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457378964573789NC_000011.9:g.64573789T>CClinGen:CA381183351C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.963C>T (p.Tyr321=)4221MEN1Likely benign1555165094RCV000632177|RCV001019580; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457379064573790NC_000011.9:g.64573790G>AClinGen:CA474983347C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.963C>A (p.Tyr321Ter)4221MEN1Pathogenic1555165094RCV001996735; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737906457379064573790-
NM_001370259.2(MEN1):c.960C>G (p.Pro320=)4221MEN1Likely benign1592643701RCV001410508; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737936457379311:g.64573793G>C-
NM_001370259.2(MEN1):c.958C>T (p.Pro320Ser)4221MEN1Uncertain significance1941726727RCV001345277|RCV002384474; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645737956457379564573795-
NM_001370259.2(MEN1):c.958C>G (p.Pro320Ala)4221MEN1Uncertain significance1941726727RCV001952260; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737956457379564573795-
NM_001370259.2(MEN1):c.955dup (p.Tyr319fs)4221MEN1Likely pathogenic386134261RCV000030211; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737976457379811:g.64573797_64573798insAClinGen:CA260475C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.955T>G (p.Tyr319Asp)4221MEN1Uncertain significance1555165101RCV000545546; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737986457379811:g.64573798A>CClinGen:CA381183374C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.954C>A (p.Ile318=)4221MEN1Likely benign2136120737RCV001403075; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645737996457379964573799-
NM_001370259.2(MEN1):c.954C>T (p.Ile318=)4221MEN1Likely benign2136120737RCV002090682|RCV002372891; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645737996457379964573799-
NM_001370259.2(MEN1):c.952A>G (p.Ile318Val)4221MEN1Uncertain significance1565644220RCV000703285; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457380164573801NC_000011.9:g.64573801T>C-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr)4221MEN1Likely pathogenic2136120898RCV002031634|RCV002372824|RCV002479828; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190011645738046457380464573804-
NM_001370259.2(MEN1):c.948A>T (p.Glu316Asp)4221MEN1Uncertain significance756604268RCV001040248|RCV002445226; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645738056457380511:g.64573805T>A-
NM_001370259.2(MEN1):c.946G>A (p.Glu316Lys)4221MEN1Uncertain significance780563052RCV001294321; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738076457380764573807-
NM_001370259.2(MEN1):c.943G>T (p.Asp315Tyr)4221MEN1Conflicting interpretations of pathogenicity747851909RCV000494086|RCV001202722; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738106457381011:g.64573810C>AClinGen:CA061863CN517202 not provided;
NM_001370259.2(MEN1):c.943G>C (p.Asp315His)4221MEN1Uncertain significance747851909RCV001980488; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738106457381064573810-
NM_001370259.2(MEN1):c.943del (p.Asp315fs)4221MEN1Pathogenic-1RCV002475092|RCV002569404; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457381064573810NC_000011.9:g.64573812del-
NM_001370259.2(MEN1):c.942G>A (p.Arg314=)4221MEN1Likely benign-1RCV003115577; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457381164573811-
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln)4221MEN1Conflicting interpretations of pathogenicity771645621RCV000573174|RCV000632120|RCV001103402|RCV002307550; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MedGen:C366190011645738126457381211:g.64573812C>TClinGen:CA061855C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.941G>T (p.Arg314Leu)4221MEN1Uncertain significance-1RCV002834451; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457381264573812NC_000011.9:g.64573812C>A-
NM_001370259.2(MEN1):c.940C>T (p.Arg314Trp)4221MEN1Uncertain significance139936447RCV001053228; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738136457381311:g.64573813G>A-
NM_001370259.2(MEN1):c.940C>G (p.Arg314Gly)4221MEN1Uncertain significance139936447RCV001961141; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738136457381364573813-
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter)4221MEN1Pathogenic386134260RCV000030210|RCV000082340|RCV002371793; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645738176457381711:g.64573817G>CClinGen:CA009655C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.936C>A (p.Tyr312Ter)4221MEN1Pathogenic386134260RCV001382417; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738176457381764573817-
NM_001370259.2(MEN1):c.936C>T (p.Tyr312=)4221MEN1Likely benign386134260RCV001498978|RCV002377870; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645738176457381764573817-
NM_001370259.2(MEN1):c.935A>T (p.Tyr312Phe)4221MEN1Uncertain significance1592643944RCV000813834; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738186457381811:g.64573818T>A-
NM_001370259.2(MEN1):c.933C>A (p.Thr311=)4221MEN1Likely benign1592643965RCV001498250; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738206457382064573820-
NM_001370259.2(MEN1):c.933C>T (p.Thr311=)4221MEN1Likely benign-1RCV002371662|RCV003100148; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457382064573820-
NM_001370259.2(MEN1):c.932C>T (p.Thr311Ile)4221MEN1Uncertain significance1565644342RCV000692458; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457382164573821NC_000011.9:g.64573821G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.930G>T (p.Lys310Asn)4221MEN1Uncertain significance1941731256RCV001247545; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738236457382311:g.64573823C>A-
NM_001370259.2(MEN1):c.927C>G (p.Ala309=)4221MEN1Likely benign-1RCV002863235; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457382664573826-
NM_001370259.2(MEN1):c.921C>T (p.Ala307=)4221MEN1Likely benign1060503788RCV000474055; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457383264573832NC_000011.9:g.64573832G>AClinGen:CA16613399C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.921C>G (p.Ala307=)4221MEN1Likely benign1060503788RCV002123150; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738326457383264573832-
NM_001370259.2(MEN1):c.916A>G (p.Ile306Val)4221MEN1Uncertain significance-1RCV002966534; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457383764573837NC_000011.9:g.64573837T>C-
NM_130799.2(MEN1):c.914del4221MEN1Pathogenic1941733228RCV001047385; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738396457383911:g.64573839_64573839del-
NM_001370259.2(MEN1):c.914G>A (p.Gly305Asp)4221MEN1Uncertain significance1592644100RCV002007070; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738396457383964573839-
NM_001370259.2(MEN1):c.913G>A (p.Gly305Ser)4221MEN1Uncertain significance1555165146RCV000545782|RCV002377018; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457384064573840NC_000011.9:g.64573840C>TClinGen:CA381183461C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.913-1G>A4221MEN1Pathogenic/Likely pathogenic1057518572RCV000414731|RCV001018907|RCV001851002; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738416457384111:g.64573841C>TClinGen:CA16042860CN517202 not provided;
NM_001370259.2(MEN1):c.913-1G>C4221MEN1Pathogenic1057518572RCV002000024; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738416457384164573841-
NM_001370259.2(MEN1):c.913-2A>G4221MEN1Pathogenic/Likely pathogenic1114167498RCV000492022|RCV000632096; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738426457384211:g.64573842T>CClinGen:CA381183467C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.913-4C>T4221MEN1Likely benign770413697RCV000508136|RCV000533306; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457384464573844NC_000011.9:g.64573844G>AClinGen:CA061834C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.913-7C>T4221MEN1Likely benign911501970RCV001464676; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738476457384764573847-
NM_001370259.2(MEN1):c.913-8C>T4221MEN1Likely benign373893527RCV001448716; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738486457384811:g.64573848G>A-
NM_001370259.2(MEN1):c.913-10C>T4221MEN1Likely benign2136122123RCV001419069; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738506457385064573850-
NM_001370259.2(MEN1):c.913-11C>T4221MEN1Likely benign2136122142RCV002150296; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738516457385164573851-
NM_001370259.2(MEN1):c.913-12A>C4221MEN1Likely benign-1RCV003025315; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457385264573852NC_000011.9:g.64573852T>G-
NM_001370259.2(MEN1):c.913-13C>T4221MEN1Likely benign1309344851RCV002151750; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738536457385364573853-
NM_001370259.2(MEN1):c.913-15del4221MEN1Likely benign2136122252RCV002132976; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738556457385564573854-
NM_001370259.2(MEN1):c.913-15C>T4221MEN1Likely benign1941734915RCV002128776; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645738556457385564573855-
NM_001370259.2(MEN1):c.913-42G>C4221MEN1Benign529037188RCV000663275|RCV002258999|RCV003230273|RCV003311876; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009050,MedGen:C0221406,OMIM:219090, Orphanet:96253|MedGen:C366190011645738826457388211:g.64573882C>G-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.912+20G>T4221MEN1Likely benign-1RCV002620886; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457446364574463NC_000011.9:g.64574463C>A-
NM_001370259.2(MEN1):c.912+19G>A4221MEN1Likely benign780657282RCV002175953; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744646457446464574464-
NM_001370259.2(MEN1):c.912+13A>G4221MEN1Likely benign754283643RCV002151029; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744706457447064574470-
NM_001370259.2(MEN1):c.912+10T>C4221MEN1Likely benign1565645317RCV000919028; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744736457447311:g.64574473A>G-
NM_001370259.2(MEN1):c.912+6G>T4221MEN1Uncertain significance755302991RCV001209296; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744776457447711:g.64574477C>A-
NM_001370259.2(MEN1):c.912+5G>A4221MEN1Uncertain significance1592646185RCV000794481; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744786457447811:g.64574478C>T-
NM_001370259.2(MEN1):c.912+5G>C4221MEN1Uncertain significance1592646185RCV001312423; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744786457447864574478-
NM_001370259.2(MEN1):c.912+3G>T4221MEN1Uncertain significance-1RCV002863724; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457448064574480NC_000011.9:g.64574480C>A-
NM_001370259.2(MEN1):c.912+2T>G4221MEN1Pathogenic1555165256RCV001926059; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744816457448164574481-
NM_001370259.2(MEN1):c.912+1G>A4221MEN1Pathogenic398124437RCV000082339|RCV000491428|RCV001382549; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744826457448211:g.64574482C>TClinGen:CA009649C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.912+1G>C4221MEN1Pathogenic398124437RCV000490972|RCV000552470; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744826457448211:g.64574482C>GClinGen:CA381183474C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.912G>A (p.Lys304=)4221MEN1Conflicting interpretations of pathogenicity1592646211RCV001018904|RCV001000963; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744836457448311:g.64574483C>T-
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn)4221MEN1Likely pathogenic1592646211RCV001175140; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744836457448311:g.64574483C>A-
NM_001370259.2(MEN1):c.910A>G (p.Lys304Glu)4221MEN1Uncertain significance1941774610RCV001208050|RCV003163576|RCV003332303; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190011645744856457448511:g.64574485T>C-
NM_001370259.2(MEN1):c.909C>T (p.His303=)4221MEN1Likely benign878855200RCV000230220|RCV002444926; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457448664574486NC_000011.9:g.64574486G>AClinGen:CA10582936C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.908A>G (p.His303Arg)4221MEN1Conflicting interpretations of pathogenicity373805140RCV000819277|RCV002372330; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645744876457448711:g.64574487T>C-
NM_001370259.2(MEN1):c.907C>T (p.His303Tyr)4221MEN1Uncertain significance1941775165RCV001299046|RCV002447280; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645744886457448864574488-
NM_001370259.2(MEN1):c.906C>T (p.Tyr302=)4221MEN1Likely benign1592646265RCV001398447; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744896457448911:g.64574489G>A-
NM_001370259.2(MEN1):c.903C>T (p.Leu301=)4221MEN1Likely benign1592646283RCV001466277|RCV002372597; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645744926457449211:g.64574492G>A-
NM_001370259.2(MEN1):c.903C>G (p.Leu301=)4221MEN1Likely benign1592646283RCV001484984|RCV003382609; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645744926457449264574492-
NM_001370259.2(MEN1):c.902T>C (p.Leu301Pro)4221MEN1Uncertain significance2136127925RCV001360730; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744936457449364574493-
NM_001370259.2(MEN1):c.901C>A (p.Leu301Ile)4221MEN1Uncertain significance1941775680RCV001056839; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744946457449411:g.64574494G>T-
NM_001370259.2(MEN1):c.900C>T (p.Thr300=)4221MEN1Likely benign1592646297RCV001489746|RCV002372618; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645744956457449511:g.64574495G>A-
NM_001370259.2(MEN1):c.899C>T (p.Thr300Ile)4221MEN1Uncertain significance1941776482RCV001211267|RCV002375161|RCV003314679; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C566987711645744966457449611:g.64574496G>A-
NM_001370259.2(MEN1):c.898A>T (p.Thr300Ser)4221MEN1Uncertain significance1592646309RCV001018589|RCV001363994; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645744976457449711:g.64574497T>A-
NM_001370259.2(MEN1):c.897C>T (p.Leu299=)4221MEN1Conflicting interpretations of pathogenicity1409781409RCV000940816|RCV001818913; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN16937411645744986457449811:g.64574498G>A-
NM_001370259.2(MEN1):c.895C>G (p.Leu299Val)4221MEN1Uncertain significance1592646339RCV001018545|RCV002549479; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745006457450011:g.64574500G>C-
NM_001370259.2(MEN1):c.895C>A (p.Leu299Ile)4221MEN1Uncertain significance1592646339RCV001231823|RCV002375235; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645745006457450011:g.64574500G>T-
NM_001370259.2(MEN1):c.894A>C (p.Pro298=)4221MEN1Likely benign-1RCV003034098; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457450164574501-
NM_001370259.2(MEN1):c.893C>T (p.Pro298Leu)4221MEN1Uncertain significance2136128195RCV002025174|RCV002442991; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645745026457450264574502-
NM_001370259.2(MEN1):c.892C>G (p.Pro298Ala)4221MEN1Uncertain significance1555165268RCV000632085|RCV002377359; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457450364574503NC_000011.9:g.64574503G>CClinGen:CA381183520C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.890A>G (p.Asp297Gly)4221MEN1Uncertain significance1592646361RCV001018488|RCV001212724; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745056457450511:g.64574505T>C-
NM_001370259.2(MEN1):c.886C>T (p.Pro296Ser)4221MEN1Uncertain significance1941777494RCV001307785; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745096457450964574509-
NM_001370259.2(MEN1):c.885G>A (p.Arg295=)4221MEN1Likely benign-1RCV002886590; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457451064574510-
NM_001370259.2(MEN1):c.884G>A (p.Arg295Gln)4221MEN1Conflicting interpretations of pathogenicity1397110438RCV000544579|RCV003343896; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457451164574511NC_000011.9:g.64574511C>TClinGen:CA381183538C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.883C>T (p.Arg295Trp)4221MEN1Uncertain significance1046929915RCV000470592|RCV000491071|RCV003392263; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|116457451264574512NC_000011.9:g.64574512G>AClinGen:CA16613627C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.881G>A (p.Gly294Asp)4221MEN1Uncertain significance1941778425RCV001038270; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745146457451411:g.64574514C>T-
NM_001370259.2(MEN1):c.880G>A (p.Gly294Ser)4221MEN1Uncertain significance1565645429RCV000686248; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457451564574515NC_000011.9:g.64574515C>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.879del (p.Gly294fs)4221MEN1Pathogenic-1RCV003037406; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457451664574516NC_000011.9:g.64574516del-
NM_001370259.2(MEN1):c.877C>G (p.Pro293Ala)4221MEN1Uncertain significance2136128745RCV001884055; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745186457451864574518-
NM_001370259.2(MEN1):c.877C>T (p.Pro293Ser)4221MEN1Uncertain significance-1RCV002843469; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457451864574518NC_000011.9:g.64574518G>A-
NM_001370259.2(MEN1):c.876C>T (p.Thr292=)4221MEN1Likely benign756782257RCV001413493|RCV002377644; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645745196457451964574519-
NM_001370259.2(MEN1):c.876C>G (p.Thr292=)4221MEN1Likely benign756782257RCV002193835|RCV002373033; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645745196457451964574519-
NM_001370259.2(MEN1):c.875C>T (p.Thr292Ile)4221MEN1Uncertain significance780646691RCV001058116|RCV002374938; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645745206457452011:g.64574520G>A-
NM_001370259.2(MEN1):c.872C>G (p.Pro291Arg)4221MEN1Uncertain significance745857419RCV001885742|RCV002370422; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645745236457452364574523-
NM_001370259.2(MEN1):c.871C>G (p.Pro291Ala)4221MEN1Uncertain significance1413160325RCV001978411; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745246457452464574524-
NM_001370259.2(MEN1):c.871C>T (p.Pro291Ser)4221MEN1Uncertain significance-1RCV003105139; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457452464574524NC_000011.9:g.64574524G>A-
NM_001370259.2(MEN1):c.869A>C (p.Glu290Ala)4221MEN1Uncertain significance1213891703RCV000532389|RCV001821504|RCV002377017; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457452664574526NC_000011.9:g.64574526T>GClinGen:CA381183566C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.869A>T (p.Glu290Val)4221MEN1Uncertain significance1213891703RCV000797291|RCV002370093; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645745266457452611:g.64574526T>A-
NM_001370259.2(MEN1):c.869A>G (p.Glu290Gly)4221MEN1Uncertain significance-1RCV003064156; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457452664574526NC_000011.9:g.64574526T>C-
NM_001370259.2(MEN1):c.868G>A (p.Glu290Lys)4221MEN1Uncertain significance1335117435RCV000800612|RCV001018178; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645745276457452711:g.64574527C>T-
NM_001370259.2(MEN1):c.868G>C (p.Glu290Gln)4221MEN1Uncertain significance1335117435RCV001303715; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745276457452764574527-
NM_001370259.2(MEN1):c.864G>A (p.Glu288=)4221MEN1Likely benign769748450RCV002082950|RCV002372878; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645745316457453164574531-
NM_001370259.2(MEN1):c.862G>T (p.Glu288Ter)4221MEN1Pathogenic-1RCV003032284; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457453364574533NC_000011.9:g.64574533C>A-
NM_001370259.2(MEN1):c.861G>A (p.Glu287=)4221MEN1Likely benign1336658836RCV000924640|RCV002445030; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645745346457453411:g.64574534C>T-
NM_001370259.2(MEN1):c.859G>T (p.Glu287Ter)4221MEN1Pathogenic2136129231RCV001872787; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745366457453664574536-
NM_001370259.2(MEN1):c.856C>T (p.Leu286=)4221MEN1Likely benign542321016RCV000556338|RCV000574622; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645745396457453911:g.64574539G>AClinGen:CA061722C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.854A>C (p.Asp285Ala)4221MEN1Uncertain significance2136129327RCV001969519; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745416457454164574541-
NM_001370259.2(MEN1):c.852A>G (p.Ala284=)4221MEN1Likely benign2136129359RCV002076478|RCV002443206; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645745436457454364574543-
NM_001370259.2(MEN1):c.851C>A (p.Ala284Glu)4221MEN1Likely pathogenic1565645563RCV000695678; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457454464574544NC_000011.9:g.64574544G>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.849G>A (p.Leu283=)4221MEN1Likely benign1592646641RCV001017915|RCV001413430; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745466457454611:g.64574546C>T-
NM_001370259.2(MEN1):c.849G>T (p.Leu283=)4221MEN1Uncertain significance1592646641RCV001103404|RCV001103403; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745466457454611:g.64574546C>A-
NM_001370259.2(MEN1):c.846C>T (p.Asn282=)4221MEN1Likely benign2136129516RCV002163359; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745496457454964574549-
NM_001370259.2(MEN1):c.845A>G (p.Asn282Ser)4221MEN1Uncertain significance1592646672RCV001017836|RCV002550833; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745506457455011:g.64574550T>C-
NM_001370259.2(MEN1):c.843G>C (p.Gly281=)4221MEN1Benign/Likely benign562620826RCV000461482|RCV000569444; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457455264574552NC_000011.9:g.64574552C>GClinGen:CA061712C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser)4221MEN1Conflicting interpretations of pathogenicity368619946RCV000797745|RCV001017703|RCV003424344; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|11645745566457455611:g.64574556A>G-
NM_001370259.2(MEN1):c.839T>A (p.Leu280Ter)4221MEN1Pathogenic-1RCV003047625; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457455664574556NC_000011.9:g.64574556A>T-
NM_001370259.2(MEN1):c.837C>T (p.Ala279=)4221MEN1Likely benign762092675RCV000226318|RCV001017650; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457455864574558NC_000011.9:g.64574558G>AClinGen:CA061700C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.837del (p.Ala279_Leu280insTer)4221MEN1Pathogenic-1RCV003029869; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457455864574558NC_000011.9:g.64574559del-
NM_001370259.2(MEN1):c.833T>G (p.Met278Arg)4221MEN1Uncertain significance1592646765RCV000810806; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745626457456211:g.64574562A>C-
NM_001370259.2(MEN1):c.832A>G (p.Met278Val)4221MEN1Uncertain significance1475401656RCV001968522; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745636457456364574563-
NM_001370259.2(MEN1):c.831del (p.Met278fs)4221MEN1Pathogenic2136129908RCV001385369; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745646457456464574563-
NM_001370259.2(MEN1):c.830C>A (p.Pro277His)4221MEN1Conflicting interpretations of pathogenicity1060499973RCV000471154|RCV000568673|RCV001824785; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374116457456564574565NC_000011.9:g.64574565G>TClinGen:CA16613405C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.830C>T (p.Pro277Leu)4221MEN1Uncertain significance1060499973RCV000539049|RCV001811031; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645745656457456511:g.64574565G>AClinGen:CA381183763C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.829_830insTAGAGGTTC (p.Tyr276_Pro277insLeuGluVal)4221MEN1Uncertain significance2136130018RCV002022980; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745656457456664574565-
NM_001370259.2(MEN1):c.828C>T (p.Tyr276=)4221MEN1Likely benign1060503789RCV000456598|RCV000562412; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457456764574567NC_000011.9:g.64574567G>AClinGen:CA16613406C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter)4221MEN1Pathogenic1060503789RCV000484977|RCV000491793|RCV000823755; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457456764574567NC_000011.9:g.64574567G>TClinGen:CA16619360C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.827A>G (p.Tyr276Cys)4221MEN1Uncertain significance1555165327RCV000565609|RCV000632097; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745686457456811:g.64574568T>CClinGen:CA381183783C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.825-1_825del4221MEN1Likely pathogenic2136130282RCV002043184; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745706457457164574569-
NM_001370259.2(MEN1):c.825G>A (p.Arg275=)4221MEN1Uncertain significance-1RCV003047246; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457457064574570-
NM_001370259.2(MEN1):c.825-4C>A4221MEN1Likely benign2136130374RCV002157069; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745746457457464574574-
NM_001370259.2(MEN1):c.825-8T>C4221MEN1Likely benign1555165330RCV000526614; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457457864574578NC_000011.9:g.64574578A>GClinGen:CA658656167C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.825-9C>A4221MEN1Likely benign1460138191RCV002213968; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745796457457964574579-
NM_001370259.2(MEN1):c.825-10C>G4221MEN1Likely benign999121619RCV000419286|RCV000460067; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745806457458011:g.64574580G>CClinGen:CA16606354C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.825-10C>T4221MEN1Likely benign-1RCV003054552; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457458064574580NC_000011.9:g.64574580G>A-
NM_001370259.2(MEN1):c.825-11T>C4221MEN1Likely benign375364751RCV002112704; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745816457458164574581-
NM_001370259.2(MEN1):c.825-14T>C4221MEN1Likely benign773447061RCV002130110; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645745846457458464574584-
NM_001370259.2(MEN1):c.824+19C>G4221MEN1Likely benign1941789202RCV002156656; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746326457463264574632-
NM_001370259.2(MEN1):c.824+18G>A4221MEN1Likely benign-1RCV003093471; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457463364574633NC_000011.9:g.64574633C>T-
NM_001370259.2(MEN1):c.824+17G>C4221MEN1Likely benign1271023864RCV002206638; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746346457463464574634-
NM_001370259.2(MEN1):c.824+16T>A4221MEN1Likely benign-1RCV002616961; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457463564574635NC_000011.9:g.64574635A>T-
NM_001370259.2(MEN1):c.824+12del4221MEN1Likely benign2136132270RCV002149395; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746396457463964574638-
NM_001370259.2(MEN1):c.824+12G>A4221MEN1Likely benign768402169RCV002137063; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746396457463964574639-
NM_001370259.2(MEN1):c.824+9A>G4221MEN1Likely benign774166628RCV002065477; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746426457464211:g.64574642T>C-
NM_001370259.2(MEN1):c.824+8G>T4221MEN1Likely benign2136132354RCV002161957; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746436457464364574643-
NM_001370259.2(MEN1):c.824+3C>G4221MEN1Uncertain significance1941790535RCV001066013; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746486457464811:g.64574648G>C-
NM_001370259.2(MEN1):c.824+1G>A4221MEN1Pathogenic1060499976RCV000018190|RCV002426511; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457465064574650NC_000011.9:g.64574650C>TOMIM:613733.0034C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.824+1G>T4221MEN1Pathogenic1060499976RCV000466988; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457465064574650NC_000011.9:g.64574650C>AClinGen:CA16613409C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.824G>A (p.Arg275Lys)4221MEN1Pathogenic1187634059RCV000820746|RCV002427053; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645746516457465111:g.64574651C>T-
NM_001370259.2(MEN1):c.823del (p.Arg275fs)4221MEN1Pathogenic1555165360RCV000632135|RCV001269679; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202116457465264574652NC_000011.9:g.64574654delClinGen:CA658797670C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.823A>G (p.Arg275Gly)4221MEN1Uncertain significance1592647235RCV000793594|RCV002406733; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645746526457465211:g.64574652T>C-
NM_001370259.2(MEN1):c.820G>A (p.Glu274Lys)4221MEN1Uncertain significance1941791593RCV001215368; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746556457465511:g.64574655C>T-
NM_001370259.2(MEN1):c.819G>T (p.Leu273=)4221MEN1Likely benign748369241RCV000232403|RCV001027267; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457465664574656NC_000011.9:g.64574656C>AClinGen:CA061617C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro)4221MEN1Likely pathogenic1592647281RCV000804447|RCV001269820; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645746576457465711:g.64574657A>G-
NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg)4221MEN1Likely pathogenic-1RCV002820945; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457465764574657NC_000011.9:g.64574657A>C-
NM_001370259.2(MEN1):c.815A>G (p.His272Arg)4221MEN1Uncertain significance-1RCV002846460; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457466064574660NC_000011.9:g.64574660T>C-
NM_001370259.2(MEN1):c.812G>C (p.Gly271Ala)4221MEN1Uncertain significance1941792670RCV001207821; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746636457466311:g.64574663C>G-
NM_001370259.2(MEN1):c.811G>A (p.Gly271Arg)4221MEN1Uncertain significance1565645918RCV000705180; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457466464574664NC_000011.9:g.64574664C>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.811G>C (p.Gly271Arg)4221MEN1Uncertain significance-1RCV002305361; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746646457466464574664-
NM_001370259.2(MEN1):c.809T>C (p.Leu270Pro)4221MEN1Uncertain significance1592647333RCV001027173|RCV001232103|RCV003106101; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645746666457466611:g.64574666A>G-
NM_001370259.2(MEN1):c.808C>T (p.Leu270=)4221MEN1Likely benign371556177RCV000928175|RCV002416158; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645746676457466711:g.64574667G>A-
NM_001370259.2(MEN1):c.808C>A (p.Leu270Met)4221MEN1Uncertain significance371556177RCV002045881; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746676457466764574667-
NM_001370259.2(MEN1):c.807C>T (p.Asp269=)4221MEN1Likely benign2136133470RCV001482190; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746686457466864574668-
NM_001370259.2(MEN1):c.806A>G (p.Asp269Gly)4221MEN1Uncertain significance1941793463RCV001071802; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746696457466911:g.64574669T>C-
NM_001370259.2(MEN1):c.805G>A (p.Asp269Asn)4221MEN1Uncertain significance878855199RCV000228494; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457467064574670NC_000011.9:g.64574670C>TClinGen:CA10582937C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys)4221MEN1Conflicting interpretations of pathogenicity773500082RCV000199390|RCV001027095|RCV003148675; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457467264574672NC_000011.9:g.64574672T>CClinGen:CA061607C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.801C>G (p.Leu267=)4221MEN1Likely benign760850856RCV000697467|RCV002422540; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457467464574674NC_000011.9:g.64574674G>C-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter)4221MEN1Pathogenic1592647398RCV000808722|RCV001269681; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN51720211645746806457468011:g.64574680C>T-
NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter)4221MEN1Pathogenic2136134076RCV002000025|RCV002423132; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645746816457468164574681-
NM_001370259.2(MEN1):c.792C>G (p.Leu264=)4221MEN1Likely benign2136134213RCV001410365|RCV002420917; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645746836457468364574683-
NM_001370259.2(MEN1):c.792C>T (p.Leu264=)4221MEN1Likely benign2136134213RCV002208835; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746836457468364574683-
NM_001370259.2(MEN1):c.791T>C (p.Leu264Pro)4221MEN1Pathogenic1941794175RCV001211834; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746846457468411:g.64574684A>G-
NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro)4221MEN1Conflicting interpretations of pathogenicity1114167502RCV000491663|RCV000811434; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457468764574687NC_000011.9:g.64574687A>GClinGen:CA381183996C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.786G>A (p.Lys262=)4221MEN1Likely benign-1RCV002412271|RCV003099766; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457468964574689-
NM_001370259.2(MEN1):c.785A>G (p.Lys262Arg)4221MEN1Uncertain significance1555165373RCV000561461|RCV000632100; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457469064574690NC_000011.9:g.64574690T>CClinGen:CA381184013C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.784-1G>C4221MEN1Pathogenic/Likely pathogenic1555165377RCV000520872|RCV000794756; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457469264574692NC_000011.9:g.64574692C>GClinGen:CA381184025CN517202 not provided;
NM_001370259.2(MEN1):c.784-1G>A4221MEN1Likely pathogenic1555165377RCV001043139; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746926457469211:g.64574692C>T-
NM_001370259.2(MEN1):c.784-7C>G4221MEN1Likely benign1313431495RCV001429713; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746986457469864574698-
NM_001370259.2(MEN1):c.784-7C>A4221MEN1Likely benign-1RCV002801810; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457469864574698NC_000011.9:g.64574698G>T-
NM_001370259.2(MEN1):c.784-8G>T4221MEN1Likely benign766553550RCV002200169; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645746996457469964574699-
NM_001370259.2(MEN1):c.784-8G>C4221MEN1Likely benign-1RCV002862510; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457469964574699NC_000011.9:g.64574699C>G-
NM_001370259.2(MEN1):c.784-9G>A4221MEN1Pathogenic/Likely pathogenic794728625RCV000182415|RCV000205749|RCV002408796; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457470064574700NC_000011.9:g.64574700C>TClinGen:CA009635,OMIM:613733.0024C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.784-9G>C4221MEN1Likely benign794728625RCV001392515; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645747006457470064574700-
NM_001370259.2(MEN1):c.784-10C>T4221MEN1Benign/Likely benign71526470RCV000475847|RCV003387850; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374116457470164574701NC_000011.9:g.64574701G>AClinGen:CA061567C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.784-10C>A4221MEN1Uncertain significance71526470RCV000632083; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457470164574701NC_000011.9:g.64574701G>TClinGen:CA658797671C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.784-19TC[2]4221MEN1Conflicting interpretations of pathogenicity764290037RCV000182400|RCV000409712|RCV001529754; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202116457470564574706NC_000011.9:g.64574706AG[2]ClinGen:CA009629C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.784-16C>T4221MEN1Likely benign754257177RCV000662550; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645747076457470711:g.64574707G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.784-16C>G4221MEN1Likely benign754257177RCV002200367; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645747076457470764574707-
NM_001370259.2(MEN1):c.784-18C>G4221MEN1Likely benign-1RCV003035135; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457470964574709NC_000011.9:g.64574709G>C-
NM_001370259.2(MEN1):c.784-129T>A4221MEN1Benign/Likely benign536461697RCV002155423|RCV003233039; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0054601,MedGen:C4539685,OMIM:61754011645748206457482064574820-
NM_001370259.2(MEN1):c.783+16A>G4221MEN1Likely benign-1RCV002838016; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457500864575008NC_000011.9:g.64575008T>C-
NM_001370259.2(MEN1):c.783+10G>C4221MEN1Likely benign2136139524RCV001496763; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750146457501464575014-
NM_001370259.2(MEN1):c.783+8C>A4221MEN1Likely benign2136139552RCV002155143; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750166457501664575016-
NM_001370259.2(MEN1):c.783+7G>A4221MEN1Likely benign1060503793RCV001417870; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457501764575017NC_000011.9:g.64575017C>TClinGen:CA16613411C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.783+5G>T4221MEN1Uncertain significance1592648530RCV001041154; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750196457501911:g.64575019C>A-
NM_001370259.2(MEN1):c.783+3G>A4221MEN1Likely benign-1RCV002412119|RCV003099758; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750216457502164575021-
NM_001370259.2(MEN1):c.783+2del4221MEN1Likely pathogenic-1RCV002797049; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457502264575022NC_000011.9:g.64575022del-
NM_001370259.2(MEN1):c.783+1G>A4221MEN1Pathogenic794728652RCV000491531|RCV000515529|RCV000506752|RCV000697334; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162||MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457502364575023NC_000011.9:g.64575023C>TClinGen:CA381184101C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.783+1G>C4221MEN1Pathogenic794728652RCV001000126|RCV002409331; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645750236457502311:g.64575023C>G-
NM_001370259.2(MEN1):c.770TGCAGC[3] (p.257LQ[3])4221MEN1Likely pathogenic1555165485RCV000632129; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457502564575026NC_000011.9:g.64575027CTGCAG[3]ClinGen:CA658797672,OMIM:613733.0030C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter)4221MEN1Pathogenic1057520733RCV000419478|RCV000554384|RCV002411313; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645750266457502611:g.64575026G>AClinGen:CA16606275C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter)4221MEN1Pathogenic104894266RCV000018170|RCV000491298; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645750296457502911:g.64575029G>AClinGen:CA009615,OMIM:613733.0014C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.778C>G (p.Gln260Glu)4221MEN1Uncertain significance104894266RCV001885690; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750296457502964575029-
NM_001370259.2(MEN1):c.777G>A (p.Leu259=)4221MEN1Likely benign2136139885RCV002166589; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750306457503064575030-
NM_001370259.2(MEN1):c.774G>C (p.Gln258His)4221MEN1Conflicting interpretations of pathogenicity374659656RCV000034788|RCV000379424|RCV000463800|RCV000573824; NMedGen:C3661900|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645750336457503311:g.64575033C>GClinGen:CA009610C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.773A>G (p.Gln258Arg)4221MEN1Uncertain significance-1RCV002301732; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750346457503464575034-
NM_001370259.2(MEN1):c.772C>T (p.Gln258Ter)4221MEN1Pathogenic886039416RCV000255776|RCV000632105; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750356457503511:g.64575035G>AClinGen:CA10588531C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.772C>G (p.Gln258Glu)4221MEN1Uncertain significance886039416RCV000690002|RCV001026760; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457503564575035NC_000011.9:g.64575035G>C-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.762_768dup (p.Leu257fs)4221MEN1Likely pathogenic1555165488RCV000664332; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457503864575039NC_000011.9:g.64575040_64575046dup-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.769C>T (p.Leu257=)4221MEN1Likely benign-1RCV002400556|RCV003099718; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457503864575038-
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe)4221MEN1Pathogenic/Likely pathogenic878855198RCV000234599|RCV001269984; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202116457504164575041NC_000011.9:g.64575041G>AClinGen:CA10582938C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys)4221MEN1Uncertain significance104894268RCV000018176|RCV001753420; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN51720211645750446457504411:g.64575044C>TClinGen:CA009605,UniProtKB:O00255#VAR_005448,OMIM:613733.0020C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln)4221MEN1Conflicting interpretations of pathogenicity104894268RCV000541629|RCV000757459; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202116457504464575044NC_000011.9:g.64575044C>GClinGen:CA381184221C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.762G>A (p.Leu254=)4221MEN1Conflicting interpretations of pathogenicity199909967RCV000196618|RCV000491869|RCV001092063|RCV001103406|RCV002271458; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MedGen:CN169374116457504564575045NC_000011.9:g.64575045C>TClinGen:CA061523C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.761T>C (p.Leu254Pro)4221MEN1Uncertain significance-1RCV002297105; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750466457504664575046-
NM_001370259.2(MEN1):c.760C>T (p.Leu254=)4221MEN1Likely benign1194394888RCV000891026|RCV001026620; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645750476457504711:g.64575047G>A-
NM_001370259.2(MEN1):c.759G>T (p.Ser253=)4221MEN1Likely benign201829546RCV000199841|RCV000568935; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645750486457504811:g.64575048C>AClinGen:CA061514C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.759G>A (p.Ser253=)4221MEN1Benign/Likely benign201829546RCV000231807|RCV001026605; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457504864575048NC_000011.9:g.64575048C>TClinGen:CA061508C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter)4221MEN1Likely pathogenic386134259RCV000030209; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750496457504911:g.64575049G>TClinGen:CA009595C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)4221MEN1Conflicting interpretations of pathogenicity386134259RCV000491434|RCV000460727|RCV002253274; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900116457504964575049NC_000011.9:g.64575049G>AClinGen:CA009601C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.758C>G (p.Ser253Trp)4221MEN1Pathogenic386134259RCV000470590; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457504964575049NC_000011.9:g.64575049G>CClinGen:CA16613469C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.758del (p.Ser253fs)4221MEN1Pathogenic1592648765RCV000800811; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750496457504911:g.64575049_64575049del-
NM_001370259.2(MEN1):c.756C>T (p.Asp252=)4221MEN1Likely benign-1RCV002394067|RCV003103415; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457505164575051-
NM_001370259.2(MEN1):c.754G>T (p.Asp252Tyr)4221MEN1Conflicting interpretations of pathogenicity770368608RCV000228896|RCV002392720|RCV003401188; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|11645750536457505311:g.64575053C>AClinGen:CA061503C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.754G>C (p.Asp252His)4221MEN1Uncertain significance770368608RCV000704960|RCV001026555; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457505364575053NC_000011.9:g.64575053C>G-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.754G>A (p.Asp252Asn)4221MEN1Uncertain significance770368608RCV001026554|RCV001204488; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750536457505311:g.64575053C>T-
NM_001370259.2(MEN1):c.753C>T (p.Thr251=)4221MEN1Conflicting interpretations of pathogenicity763326062RCV000491168|RCV000828127|RCV001086629|RCV001105326; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502116457505464575054NC_000011.9:g.64575054G>AClinGen:CA061487C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.751A>G (p.Thr251Ala)4221MEN1Uncertain significance-1RCV003470096; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457505664575056-
NM_001370259.2(MEN1):c.746_749dup (p.Thr251fs)4221MEN1Pathogenic1592648830RCV000796395; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750576457505811:g.64575057_64575058insTGCA-
NM_001370259.2(MEN1):c.746T>A (p.Leu249Gln)4221MEN1Uncertain significance1824195184RCV001340765; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750616457506164575061-
NM_001370259.2(MEN1):c.739_745del (p.Ile247fs)4221MEN1Pathogenic1555165503RCV000524643; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457506264575068NC_000011.9:g.64575064_64575070delClinGen:CA658656173C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.745C>A (p.Leu249Met)4221MEN1Uncertain significance2136140837RCV001985040; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750626457506264575062-
NM_001370259.2(MEN1):c.744C>T (p.Asp248=)4221MEN1Likely benign2136140889RCV002104933; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750636457506364575063-
NM_001370259.2(MEN1):c.741T>C (p.Ile247=)4221MEN1Likely benign1592648877RCV001460060; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750666457506611:g.64575066A>G-
NM_001370259.2(MEN1):c.740T>C (p.Ile247Thr)4221MEN1Uncertain significance1043531053RCV001026403|RCV001053547|RCV003238272; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645750676457506711:g.64575067A>G-
NM_001370259.2(MEN1):c.739dup (p.Ile247fs)4221MEN1Pathogenic2136141104RCV001387835; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750676457506864575067-
NM_001370259.2(MEN1):c.739A>G (p.Ile247Val)4221MEN1Uncertain significance1555165508RCV000632132; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457506864575068NC_000011.9:g.64575068T>CClinGen:CA381184355C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.736T>G (p.Ser246Ala)4221MEN1Uncertain significance1175283759RCV000548928|RCV003159749; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457507164575071NC_000011.9:g.64575071A>CClinGen:CA381184371C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.734del (p.Pro245fs)4221MEN1Pathogenic1565646772RCV000761296; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457507364575073NC_000011.9:g.64575075del-
NM_001370259.2(MEN1):c.733C>G (p.Pro245Ala)4221MEN1Uncertain significance1373521153RCV001230337; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750746457507411:g.64575074G>C-
NM_001370259.2(MEN1):c.729C>T (p.Ile243=)4221MEN1Likely benign1353237754RCV000536420|RCV003159748; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457507864575078NC_000011.9:g.64575078G>AClinGen:CA474983796C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.726C>T (p.Ala242=)4221MEN1Likely benign1198651608RCV000528262|RCV002384058; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645750816457508111:g.64575081G>AClinGen:CA474983798C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val)4221MEN1Pathogenic/Likely pathogenic2136141530RCV001378938; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750826457508264575082-
NM_001370259.2(MEN1):c.723_724del (p.Ala242fs)4221MEN1Pathogenic1592649069RCV001026184|RCV001862359; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750836457508411:g.64575083_64575084del-
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr)4221MEN1Pathogenic/Likely pathogenic794728624RCV000461795|RCV000491344|RCV001812172; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457508564575085NC_000011.9:g.64575085C>TClinGen:CA009579C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg)4221MEN1Likely pathogenic1592649108RCV000816677|RCV002293487|RCV002372308; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645750866457508611:g.64575086A>G-
NM_001370259.2(MEN1):c.720G>T (p.Val240=)4221MEN1Likely benign1555165534RCV000547687; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457508764575087NC_000011.9:g.64575087C>AClinGen:CA474983804C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.716T>C (p.Met239Thr)4221MEN1Uncertain significance1441995061RCV001026113|RCV002551949; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645750916457509111:g.64575091A>G-
NM_001370259.2(MEN1):c.711G>A (p.Ala237=)4221MEN1Likely benign144677807RCV000465578|RCV000562651; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457509664575096NC_000011.9:g.64575096C>TClinGen:CA061472C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.710C>T (p.Ala237Val)4221MEN1Uncertain significance760289964RCV000465273|RCV001026052; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457509764575097NC_000011.9:g.64575097G>AClinGen:CA061467C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.706G>T (p.Val236Leu)4221MEN1Uncertain significance-1RCV002829721; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457510164575101NC_000011.9:g.64575101C>A-
NM_001370259.2(MEN1):c.702G>A (p.Met234Ile)4221MEN1Uncertain significance1448041546RCV000632103|RCV003302991; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457510564575105NC_000011.9:g.64575105C>TClinGen:CA381184587C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.700A>T (p.Met234Leu)4221MEN1Uncertain significance1296948476RCV001217728; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751076457510711:g.64575107T>A-
NM_001370259.2(MEN1):c.700A>G (p.Met234Val)4221MEN1Uncertain significance-1RCV002659365; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457510764575107NC_000011.9:g.64575107T>C-
NM_001370259.2(MEN1):c.698A>C (p.Lys233Thr)4221MEN1Uncertain significance1592649270RCV000812047; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751096457510911:g.64575109T>G-
NM_001370259.2(MEN1):c.697A>C (p.Lys233Gln)4221MEN1Uncertain significance-1RCV002362542|RCV003098432; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751106457511064575110-
NM_001370259.2(MEN1):c.696C>T (p.Arg232=)4221MEN1Conflicting interpretations of pathogenicity753411991RCV000813377|RCV003166322; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645751116457511111:g.64575111G>A-
NM_001370259.2(MEN1):c.695G>A (p.Arg232His)4221MEN1Uncertain significance1941826992RCV001042600; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751126457511211:g.64575112C>T-
NM_001370259.2(MEN1):c.694C>T (p.Arg232Cys)4221MEN1Conflicting interpretations of pathogenicity1225847249RCV000536638|RCV001025835; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457511364575113NC_000011.9:g.64575113G>AClinGen:CA381184625C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.693C>T (p.Asp231=)4221MEN1Likely benign-1RCV002362416|RCV003098423; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457511464575114-
NM_001370259.2(MEN1):c.691G>C (p.Asp231His)4221MEN1Uncertain significance1941827572RCV001056867|RCV002374934; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645751166457511611:g.64575116C>G-
NM_001370259.2(MEN1):c.690T>C (p.Cys230=)4221MEN1Likely benign2136142487RCV002151686; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751176457511764575117-
NC_000011.9:g.(?_64575120)_(64576450_?)del4221MEN1Pathogenic-1RCV003123031; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457512064576450-
NM_001370259.2(MEN1):c.686G>A (p.Arg229His)4221MEN1Conflicting interpretations of pathogenicity878855197RCV000233998|RCV001025749|RCV002469085; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374116457512164575121NC_000011.9:g.64575121C>TClinGen:CA10582939C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.682_685dup (p.Arg229fs)4221MEN1Pathogenic1114167519RCV000491507|RCV001229546; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457512164575122NC_000011.9:g.64575123_64575126dupClinGen:CA645369567C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.685C>T (p.Arg229Cys)4221MEN1Conflicting interpretations of pathogenicity754378887RCV000196791|RCV001025738|RCV001795326; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190011645751226457512211:g.64575122G>AClinGen:CA061444C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.685C>A (p.Arg229Ser)4221MEN1Uncertain significance754378887RCV001364494; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751226457512264575122-
NM_001370259.2(MEN1):c.682A>G (p.Met228Val)4221MEN1Uncertain significance1060499982RCV000476428|RCV001025697|RCV003401443; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|116457512564575125NC_000011.9:g.64575125T>CClinGen:CA16613629C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter)4221MEN1Pathogenic778921501RCV000560572|RCV001269815; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202116457512664575126NC_000011.9:g.64575126G>TClinGen:CA381184686C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.681C>T (p.Tyr227=)4221MEN1Likely benign778921501RCV001532640|RCV001417430|RCV002368305; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645751266457512664575126-
NM_001370259.2(MEN1):c.676T>G (p.Ser226Ala)4221MEN1Uncertain significance-1RCV002295122; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751316457513164575131-
NM_001370259.2(MEN1):c.669G>A (p.Leu223=)4221MEN1Likely benign2136143050RCV001412353; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751386457513864575138-
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro)4221MEN1Pathogenic886039415RCV000255095|RCV000491535|RCV001235431; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751396457513911:g.64575139A>GClinGen:CA10588532C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.667C>T (p.Leu223=)4221MEN1Likely benign1592649487RCV001431499; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751406457514011:g.64575140G>A-
NM_001370259.2(MEN1):c.666C>T (p.Tyr222=)4221MEN1Likely benign1555165597RCV002184066|RCV002363699; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645751416457514164575141-
NM_001370259.2(MEN1):c.665A>C (p.Tyr222Ser)4221MEN1Uncertain significance1555165601RCV000632115; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751426457514211:g.64575142T>GClinGen:CA381185215C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.664T>G (p.Tyr222Asp)4221MEN1Uncertain significance1941830592RCV001347617; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751436457514364575143-
NM_001370259.2(MEN1):c.663G>C (p.Leu221=)4221MEN1Likely benign1466764986RCV001506095; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751446457514464575144-
NM_001370259.2(MEN1):c.662T>C (p.Leu221Pro)4221MEN1Conflicting interpretations of pathogenicity2136143369RCV001896354|RCV002361181; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645751456457514564575145-
NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter)4221MEN1Pathogenic886039414RCV000256041|RCV000490921|RCV001224068; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751476457514711:g.64575147C>TClinGen:CA10588533C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.660G>T (p.Trp220Cys)4221MEN1Uncertain significance886039414RCV000704895; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457514764575147NC_000011.9:g.64575147C>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.659G>A (p.Trp220Ter)4221MEN1Pathogenic1565647197RCV000696600; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457514864575148NC_000011.9:g.64575148C>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.655-15_658del4221MEN1Likely pathogenic1592649598RCV000823354; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751496457516711:g.64575149_64575167del-
NM_001370259.2(MEN1):c.657C>T (p.Ser219=)4221MEN1Likely benign2059889716RCV001394944|RCV003284300; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645751506457515064575150-
NM_001370259.2(MEN1):c.655-1G>A4221MEN1Pathogenic1592649615RCV000819459; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751536457515311:g.64575153C>T-
NM_001370259.2(MEN1):c.655-1G>C4221MEN1Pathogenic/Likely pathogenic1592649615RCV001025404|RCV002281151|RCV001862323; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751536457515311:g.64575153C>G-
NM_001370259.2(MEN1):c.655-2A>G4221MEN1Pathogenic-1RCV003084888; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457515464575154NC_000011.9:g.64575154T>C-
NM_001370259.2(MEN1):c.655-7_655-4dup4221MEN1Likely benign2136143779RCV001426737; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751556457515664575155-
NM_001370259.2(MEN1):c.655-4del4221MEN1Conflicting interpretations of pathogenicity748005956RCV000234359|RCV000454942|RCV000566396; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457515664575156NC_000011.9:g.64575156delClinGen:CA061415C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.655-5dup4221MEN1Conflicting interpretations of pathogenicity772016629RCV000411902|RCV001706621|RCV002256225|RCV003321585; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374116457515664575157NC_000011.9:g.64575163dupClinGen:CA6082226C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.655-6_655-4del4221MEN1Uncertain significance1555165623RCV000632098; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457515664575158NC_000011.9:g.64575156_64575158delClinGen:CA658797673C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.655-5C>G4221MEN1Conflicting interpretations of pathogenicity752563214RCV000227150|RCV002365218|RCV003226264; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374116457515764575157NC_000011.9:g.64575157G>CClinGen:CA061418C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.655-5C>A4221MEN1Uncertain significance752563214RCV001025408|RCV001068075; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751576457515711:g.64575157G>T-
NM_001370259.2(MEN1):c.655-5del4221MEN1Benign/Likely benign772016629RCV002164791|RCV003222384; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645751576457515764575156-
NM_001370259.2(MEN1):c.655-5C>T4221MEN1Likely benign752563214RCV002220890; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751576457515764575157-
NM_001370259.2(MEN1):c.655-6C>T4221MEN1Conflicting interpretations of pathogenicity77461664RCV000679258|RCV001082522|RCV001105327|RCV001731368|RCV002255283; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645751586457515811:g.64575158G>AClinGen:CA009562C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.655-6C>A4221MEN1Conflicting interpretations of pathogenicity77461664RCV000454964|RCV000657085|RCV000988573|RCV002257506; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645751586457515811:g.64575158G>TClinGen:CA061426C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.655-6C>G4221MEN1Conflicting interpretations of pathogenicity77461664RCV000231039|RCV000604145|RCV001105328|RCV002256173; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457515864575158NC_000011.9:g.64575158G>CClinGen:CA061430C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.655-7C>A4221MEN1Uncertain significance771297371RCV000547893; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751596457515911:g.64575159G>TClinGen:CA061437C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.655-7C>G4221MEN1Uncertain significance771297371RCV001369936; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751596457515964575159-
NM_001370259.2(MEN1):c.655-7C>T4221MEN1Likely benign771297371RCV001439761; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751596457515964575159-
NM_001370259.2(MEN1):c.655-8C>T4221MEN1Likely benign2136143989RCV002218698; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751606457516064575160-
NM_001370259.2(MEN1):c.655-9C>A4221MEN1Uncertain significance2136144016RCV002037070; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751616457516164575161-
NM_001370259.2(MEN1):c.655-10C>T4221MEN1Likely benign2136144068RCV002165957; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751626457516264575162-
NM_001370259.2(MEN1):c.655-12dup4221MEN1Likely benign2136144164RCV002218015; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751636457516464575163-
NM_001370259.2(MEN1):c.655-11C>T4221MEN1Likely benign781234614RCV002212281; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751636457516364575163-
NM_001370259.2(MEN1):c.655-11C>G4221MEN1Likely benign781234614RCV002157457; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751636457516364575163-
NM_001370259.2(MEN1):c.655-12T>C4221MEN1Likely benign2136144144RCV002128038; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751646457516464575164-
NM_001370259.2(MEN1):c.655-19_655-17del4221MEN1Likely benign2136144272RCV002111496; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645751696457517164575168-
NM_001370259.2(MEN1):c.655-19G>A4221MEN1Likely benign-1RCV002586510; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457517164575171NC_000011.9:g.64575171C>T-
NM_001370259.2(MEN1):c.654+18dup4221MEN1Benign112700230RCV002102849; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753446457534564575344-
NM_001370259.2(MEN1):c.654+18C>T4221MEN1Conflicting interpretations of pathogenicity180737290RCV000030208|RCV000606793; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN16937411645753456457534511:g.64575345G>AClinGen:CA009555C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.654+18C>G4221MEN1Likely benign180737290RCV002168552; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753456457534564575345-
NM_001370259.2(MEN1):c.654+18del4221MEN1Benign112700230RCV002124958; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753456457534564575344-
NM_001370259.2(MEN1):c.654+18C>A4221MEN1Likely benign-1RCV002995996; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457534564575345NC_000011.9:g.64575345G>T-
NM_001370259.2(MEN1):c.654+17C>G4221MEN1Likely benign764070489RCV002085395; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753466457534664575346-
NM_001370259.2(MEN1):c.654+17C>A4221MEN1Likely benign-1RCV002670976; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457534664575346NC_000011.9:g.64575346G>T-
NM_001370259.2(MEN1):c.654+16C>A4221MEN1Likely benign2136147604RCV002143615; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753476457534764575347-
NM_001370259.2(MEN1):c.654+15C>G4221MEN1Likely benign1262314762RCV002218109; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753486457534864575348-
NM_001370259.2(MEN1):c.654+14C>T4221MEN1Likely benign-1RCV003040075; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457534964575349NC_000011.9:g.64575349G>A-
NM_001370259.2(MEN1):c.654+11C>T4221MEN1Likely benign1941846380RCV002200254; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753526457535264575352-
NM_001370259.2(MEN1):c.654+10C>T4221MEN1Likely benign921850475RCV000461965; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457535364575353NC_000011.9:g.64575353G>AClinGen:CA16613630C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.654+10C>A4221MEN1Likely benign921850475RCV001445117; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753536457535364575353-
NM_001370259.2(MEN1):c.654+9C>T4221MEN1Likely benign202134234RCV000461750; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457535464575354NC_000011.9:g.64575354G>AClinGen:CA061381C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.654+9C>A4221MEN1Likely benign202134234RCV000632159; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457535464575354NC_000011.9:g.64575354G>TClinGen:CA658797675C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.654+9C>G4221MEN1Likely benign202134234RCV000632169; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753546457535411:g.64575354G>CClinGen:CA658797674C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.654+6G>T4221MEN1Uncertain significance1941847253RCV001221549; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753576457535711:g.64575357C>A-
NM_001370259.2(MEN1):c.654+5T>C4221MEN1Conflicting interpretations of pathogenicity757049384RCV001056574|RCV002365715; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645753586457535811:g.64575358A>G-
NM_001370259.2(MEN1):c.654+4T>C4221MEN1Uncertain significance1941847622RCV001036068; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753596457535911:g.64575359A>G-
NM_001370259.2(MEN1):c.654+3A>G4221MEN1Likely pathogenic1064793168RCV001061257; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753606457536011:g.64575360T>C-
NM_001370259.2(MEN1):c.649_654+2del4221MEN1Likely pathogenic386134258RCV000030207; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753616457536811:g.64575361_64575368delClinGen:CA260470C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.654+1G>A4221MEN1Pathogenic794728622RCV000032982|RCV002362604|RCV002510773; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190011645753626457536211:g.64575362C>TOMIM:613733.0035C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.654+1G>T4221MEN1Pathogenic794728622RCV000182411|RCV000709159|RCV002362934; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457536264575362NC_000011.9:g.64575362C>AClinGen:CA009560C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.653G>A (p.Arg218Gln)4221MEN1Uncertain significance1423517569RCV001025386|RCV001056016; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753646457536411:g.64575364C>T-
NM_001370259.2(MEN1):c.653G>C (p.Arg218Pro)4221MEN1Uncertain significance1423517569RCV001212796; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753646457536411:g.64575364C>G-
NM_001370259.2(MEN1):c.644_652delinsGCCCCT (p.Val215_Arg218delinsGlyProTrp)4221MEN1Uncertain significance386134257RCV000030206|RCV000722116; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN16937411645753656457537311:g.64575366_64575373delClinGen:CA009539C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)4221MEN1Uncertain significance794728620RCV000410087|RCV001818447|RCV002362933; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645753656457536511:g.64575365G>AClinGen:CA009550C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.652C>A (p.Arg218=)4221MEN1Likely benign794728620RCV001448064; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753656457536564575365-
NM_001370259.2(MEN1):c.647C>T (p.Ala216Val)4221MEN1Uncertain significance2136148590RCV001993765; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753706457537064575370-
NM_001370259.2(MEN1):c.646G>C (p.Ala216Pro)4221MEN1Uncertain significance1592650523RCV000802474; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753716457537111:g.64575371C>G-
NM_001370259.2(MEN1):c.646del (p.Ala216fs)4221MEN1Pathogenic2136148702RCV001894281; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753716457537164575370-
NM_001370259.2(MEN1):c.645G>A (p.Val215=)4221MEN1Conflicting interpretations of pathogenicity1347044526RCV001365237|RCV002255652; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645753726457537264575372-
NM_001370259.2(MEN1):c.643G>A (p.Val215Met)4221MEN1Pathogenic/Likely pathogenic794728621RCV000230442|RCV001797061; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645753746457537411:g.64575374C>TClinGen:CA009535C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.642T>C (p.Gly214=)4221MEN1Likely benign931878410RCV001479044|RCV002363263; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645753756457537511:g.64575375A>G-
NM_001370259.2(MEN1):c.641G>C (p.Gly214Ala)4221MEN1Uncertain significance2136148915RCV002025366; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753766457537664575376-
NM_001370259.2(MEN1):c.640G>A (p.Gly214Ser)4221MEN1Uncertain significance781493730RCV000205360|RCV001025237|RCV003237765; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457537764575377NC_000011.9:g.64575377C>TClinGen:CA061345C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.640G>T (p.Gly214Cys)4221MEN1Uncertain significance781493730RCV001991237; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753776457537764575377-
NM_001370259.2(MEN1):c.639C>T (p.Ala213=)4221MEN1Likely benign746067825RCV000227531|RCV000562641; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457537864575378NC_000011.9:g.64575378G>AClinGen:CA061341C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.638_639delinsAA (p.Ala213Glu)4221MEN1Uncertain significance1114167518RCV000491024|RCV002527050|RCV003235248; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374116457537864575379NC_000011.9:g.64575378_64575379delinsTTClinGen:CA645369568C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.639C>A (p.Ala213=)4221MEN1Likely benign746067825RCV001399750; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753786457537811:g.64575378G>T-
NM_001370259.2(MEN1):c.639del (p.Gly214fs)4221MEN1Pathogenic1941850919RCV001056652; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753786457537811:g.64575378_64575378del-
NM_001370259.2(MEN1):c.638C>G (p.Ala213Gly)4221MEN1Uncertain significance-1RCV003470099; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457537964575379-
NM_001370259.2(MEN1):c.637G>A (p.Ala213Thr)4221MEN1Uncertain significance-1RCV002979145; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457538064575380NC_000011.9:g.64575380C>T-
NM_001370259.2(MEN1):c.635A>G (p.Asn212Ser)4221MEN1Uncertain significance1438685841RCV000632102|RCV002248834|RCV002360516|RCV002510940; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190011645753826457538211:g.64575382T>CClinGen:CA381185348C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.631_634del (p.Val211fs)4221MEN1Pathogenic1941851693RCV000018182; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457538364575386NC_000011.9:g.64575385_64575388delOMIM:613733.0026C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.634A>G (p.Asn212Asp)4221MEN1Uncertain significance1060499980RCV000472651; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457538364575383NC_000011.9:g.64575383T>CClinGen:CA16613421C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.633del (p.Asn212fs)4221MEN1Pathogenic878855196RCV000232633; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457538464575384NC_000011.9:g.64575384delClinGen:CA10582940C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.632T>G (p.Val211Gly)4221MEN1Uncertain significance1565647698RCV000685919; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457538564575385NC_000011.9:g.64575385A>C-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs)4221MEN1Pathogenic794728640RCV000018163|RCV000182437|RCV000491752; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457538664575389NC_000011.9:g.64575389_64575392delClinGen:CA009530,OMIM:613733.0007C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.630A>C (p.Thr210=)4221MEN1Likely benign1592650685RCV001505443; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753876457538711:g.64575387T>G-
NM_001370259.2(MEN1):c.629C>G (p.Thr210Arg)4221MEN1Uncertain significance756287855RCV000471586; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457538864575388NC_000011.9:g.64575388G>CClinGen:CA16613473C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.629C>A (p.Thr210Lys)4221MEN1Uncertain significance756287855RCV001991172|RCV003170340; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645753886457538864575388-
NM_001370259.2(MEN1):c.627G>C (p.Gln209His)4221MEN1Uncertain significance1565647751RCV000694820; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753906457539011:g.64575390C>G-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.627G>T (p.Gln209His)4221MEN1Uncertain significance1565647751RCV001343884; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753906457539064575390-
NM_001370259.2(MEN1):c.627G>A (p.Gln209=)4221MEN1Likely benign1565647751RCV001421353; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753906457539064575390-
NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter)4221MEN1Pathogenic1565647767RCV000692015; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457539264575392NC_000011.9:g.64575392G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.621G>A (p.Arg207=)4221MEN1Likely benign779966911RCV001487021|RCV002363025; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645753966457539611:g.64575396C>TClinGen:CA061329C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.619A>G (p.Arg207Gly)4221MEN1Uncertain significance1941853632RCV001212253|RCV002365954; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645753986457539811:g.64575398T>C-
NM_001370259.2(MEN1):c.618C>T (p.Arg206=)4221MEN1Uncertain significance1555165717RCV000559647; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645753996457539911:g.64575399G>AClinGen:CA475162852C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.617G>A (p.Arg206His)4221MEN1Uncertain significance1565647825RCV000697796|RCV002352168|RCV003329327; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457540064575400NC_000011.9:g.64575400C>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.616C>T (p.Arg206Cys)4221MEN1Uncertain significance1392579402RCV001316658|RCV002357135; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645754016457540164575401-
NM_001370259.2(MEN1):c.612G>C (p.Glu204Asp)4221MEN1Uncertain significance-1RCV002300414; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754056457540564575405-
NM_001370259.2(MEN1):c.609C>T (p.Asn203=)4221MEN1Likely benign749844029RCV000570189|RCV000632152; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754086457540811:g.64575408G>AClinGen:CA061316C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.609C>G (p.Asn203Lys)4221MEN1Uncertain significance749844029RCV002018265; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754086457540864575408-
NM_001370259.2(MEN1):c.606C>A (p.Gly202=)4221MEN1Likely benign-1RCV002933713; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457541164575411-
NM_001370259.2(MEN1):c.605G>A (p.Gly202Asp)4221MEN1Uncertain significance1941854779RCV001216886; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754126457541211:g.64575412C>T-
NM_001370259.2(MEN1):c.605del (p.Gly202fs)4221MEN1Pathogenic-1RCV003450206; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457541264575412-
NM_001370259.2(MEN1):c.601A>G (p.Lys201Glu)4221MEN1Uncertain significance-1RCV002993837; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457541664575416NC_000011.9:g.64575416T>C-
NM_001370259.2(MEN1):c.598G>A (p.Gly200Ser)4221MEN1Uncertain significance1592650813RCV000823899; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754196457541911:g.64575419C>T-
NM_001370259.2(MEN1):c.597C>T (p.His199=)4221MEN1Benign/Likely benign150512958RCV000119192|RCV000249354|RCV000491834|RCV001650974; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190011645754206457542011:g.64575420G>AClinGen:CA009524C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.597C>A (p.His199Gln)4221MEN1Uncertain significance150512958RCV000547248|RCV002358449; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645754206457542011:g.64575420G>TClinGen:CA381185509C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter)4221MEN1Pathogenic104894257RCV000632134|RCV003317132; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202116457542364575423NC_000011.9:g.64575423C>TClinGen:CA009518C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter)4221MEN1Pathogenic104894258RCV000018162; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754246457542411:g.64575424C>TOMIM:613733.0006,ClinGen:CA009514C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.584_593del (p.Glu195fs)4221MEN1Pathogenic-1RCV002736767; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457542464575433NC_000011.9:g.64575427_64575436del-
NM_001370259.2(MEN1):c.591C>G (p.Thr197=)4221MEN1Benign/Likely benign527294715RCV000123387|RCV002354309; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457542664575426NC_000011.9:g.64575426G>CClinGen:CA009507C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.591C>T (p.Thr197=)4221MEN1Likely benign527294715RCV002173888|RCV002352927; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645754266457542664575426-
NM_001370259.2(MEN1):c.590C>T (p.Thr197Ile)4221MEN1Uncertain significance1592650893RCV000794077|RCV003166114; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645754276457542711:g.64575427G>A-
NM_001370259.2(MEN1):c.588C>T (p.Val196=)4221MEN1Likely benign1592650906RCV001431451; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754296457542911:g.64575429G>A-
NM_001370259.2(MEN1):c.584_586del (p.Glu195del)4221MEN1Uncertain significance2136151782RCV001533150; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754316457543364575430-
NM_001370259.2(MEN1):c.586G>A (p.Val196Ile)4221MEN1Uncertain significance2136151708RCV002011495; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754316457543164575431-
NM_001370259.2(MEN1):c.585G>A (p.Glu195=)4221MEN1Likely benign864622177RCV000204677; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754326457543211:g.64575432C>TClinGen:CA348878C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.582T>G (p.Ala194=)4221MEN1Likely benign1592650942RCV001403320; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754356457543511:g.64575435A>C-
NM_001370259.2(MEN1):c.582T>A (p.Ala194=)4221MEN1Likely benign1592650942RCV001462864; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754356457543564575435-
NM_001370259.2(MEN1):c.581C>G (p.Ala194Gly)4221MEN1Uncertain significance2136152165RCV002042560; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754366457543664575436-
NM_001370259.2(MEN1):c.579A>T (p.Thr193=)4221MEN1Likely benign-1RCV002359802|RCV003096876; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457543864575438-
NM_001370259.2(MEN1):c.578C>G (p.Thr193Arg)4221MEN1Uncertain significance1592650971RCV000802976; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754396457543911:g.64575439G>C-
NM_001370259.2(MEN1):c.578C>T (p.Thr193Ile)4221MEN1Uncertain significance1592650971RCV001340366; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754396457543964575439-
NM_001370259.2(MEN1):c.578C>A (p.Thr193Lys)4221MEN1Uncertain significance1592650971RCV001959432; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754396457543964575439-
NM_001370259.2(MEN1):c.577A>G (p.Thr193Ala)4221MEN1Uncertain significance-1RCV003470092; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457544064575440-
NM_001370259.2(MEN1):c.574C>T (p.Gln192Ter)4221MEN1Pathogenic-1RCV003058326; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457544364575443NC_000011.9:g.64575443G>A-
NM_001370259.2(MEN1):c.573G>T (p.Glu191Asp)4221MEN1Uncertain significance1592651018RCV001024469|RCV001862290; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754446457544411:g.64575444C>A-
NM_001370259.2(MEN1):c.573G>A (p.Glu191=)4221MEN1Likely benign1592651018RCV002110099; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754446457544464575444-
NM_001370259.2(MEN1):c.570G>A (p.Gly190=)4221MEN1Conflicting interpretations of pathogenicity547249181RCV000473714|RCV000564641|RCV001105329|RCV001821300; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MedGen:CN169374116457544764575447NC_000011.9:g.64575447C>TClinGen:CA061297C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.569G>A (p.Gly190Glu)4221MEN1Uncertain significance878855195RCV000229709; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457544864575448NC_000011.9:g.64575448C>TClinGen:CA10582941C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.568G>A (p.Gly190Arg)4221MEN1Uncertain significance1555165742RCV000632127|RCV001024412; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457544964575449NC_000011.9:g.64575449C>TClinGen:CA381185697C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.567T>A (p.Asn189Lys)4221MEN1Uncertain significance1212919060RCV001315304; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754506457545064575450-
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser)4221MEN1Conflicting interpretations of pathogenicity587780844RCV000123386|RCV001024385|RCV003153410; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457545164575451NC_000011.9:g.64575451T>CClinGen:CA009502C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.563_564del (p.Pro188fs)4221MEN1Pathogenic1555165756RCV000529950|RCV002350189; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645754536457545411:g.64575453_64575454delClinGen:CA658658066C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu)4221MEN1Conflicting interpretations of pathogenicity199706698RCV000148613|RCV000200394|RCV000455592|RCV000708708; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645754546457545411:g.64575454G>AClinGen:CA009496C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.562C>T (p.Pro188Ser)4221MEN1Uncertain significance1209606579RCV002036732|RCV002346333; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645754556457545564575455-
NM_001370259.2(MEN1):c.555G>T (p.Val185=)4221MEN1Likely benign1178007625RCV002087434; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754626457546264575462-
NM_001370259.2(MEN1):c.554T>C (p.Val185Ala)4221MEN1Uncertain significance764847812RCV000558442|RCV001024261; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645754636457546311:g.64575463A>GClinGen:CA061289C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.553G>C (p.Val185Leu)4221MEN1Uncertain significance1265797059RCV001321300; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754646457546464575464-
NM_001370259.2(MEN1):c.551T>A (p.Val184Glu)4221MEN1Pathogenic104894262RCV000018177; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754666457546611:g.64575466A>TClinGen:CA009488,UniProtKB:O00255#VAR_005445,OMIM:613733.0021C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.549G>C (p.Trp183Cys)4221MEN1Pathogenic2136153753RCV002037784; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754686457546864575468-
NM_001370259.2(MEN1):c.549G>A (p.Trp183Ter)4221MEN1Pathogenic-1RCV003062405; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457546864575468NC_000011.9:g.64575468C>T-
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter)4221MEN1Pathogenic794728650RCV000659844|RCV003165391; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457546964575469NC_000011.9:g.64575469C>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.544G>C (p.Ala182Pro)4221MEN1Uncertain significance-1RCV002715109; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457547364575473NC_000011.9:g.64575473C>G-
NM_001370259.2(MEN1):c.542A>G (p.His181Arg)4221MEN1Pathogenic/Likely pathogenic1941861451RCV001574143|RCV001069023|RCV002348477; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645754756457547511:g.64575475T>C-
NM_001370259.2(MEN1):c.539A>T (p.Asp180Val)4221MEN1Uncertain significance1064794683RCV000487365|RCV001049493; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754786457547811:g.64575478T>AClinGen:CA16619364CN169374 not specified;
NM_001370259.2(MEN1):c.537_538delinsTT (p.Glu179_Asp180delinsAspTyr)4221MEN1Uncertain significance1555165809RCV000545198; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457547964575480NC_000011.9:g.64575479_64575480delinsAAClinGen:CA658658067C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.538G>T (p.Asp180Tyr)4221MEN1Uncertain significance2136154322RCV001367443; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754796457547964575479-
NM_001370259.2(MEN1):c.537G>C (p.Glu179Asp)4221MEN1Conflicting interpretations of pathogenicity1555165811RCV000521106|RCV001228587; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754806457548011:g.64575480C>GClinGen:CA381185889CN169374 not specified;
NM_001370259.2(MEN1):c.534dup (p.Glu179Ter)4221MEN1Pathogenic2136154587RCV001979712; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754826457548364575482-
NM_001370259.2(MEN1):c.531G>A (p.Leu177=)4221MEN1Likely benign146568011RCV000226931|RCV000254470|RCV000491307; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457548664575486NC_000011.9:g.64575486C>TClinGen:CA061284C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.530T>C (p.Leu177Pro)4221MEN1Uncertain significance2136154828RCV001368589; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754876457548764575487-
NM_001370259.2(MEN1):c.529C>G (p.Leu177Val)4221MEN1Uncertain significance865919253RCV000813107; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754886457548811:g.64575488G>C-
NM_001370259.2(MEN1):c.528C>A (p.Ala176=)4221MEN1Likely benign1311592330RCV002194362; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754896457548964575489-
NM_001370259.2(MEN1):c.528C>G (p.Ala176=)4221MEN1Likely benign1311592330RCV002144736|RCV002346457; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645754896457548964575489-
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)4221MEN1Pathogenic/Likely pathogenic376872829RCV000491572|RCV000505771|RCV000551917; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457549164575491NC_000011.9:g.64575491C>GClinGen:CA009468C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser)4221MEN1Conflicting interpretations of pathogenicity376872829RCV000573513|RCV000632090|RCV002253513; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645754916457549111:g.64575491C>AClinGen:CA061279C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.526G>A (p.Ala176Thr)4221MEN1Uncertain significance376872829RCV001023830|RCV001060544|RCV003319433; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645754916457549111:g.64575491C>T-
NM_001370259.2(MEN1):c.525_526insTT (p.Ala176fs)4221MEN1Pathogenic1941864588RCV001223479; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645754916457549211:g.64575491_64575492insAA-
NM_001370259.2(MEN1):c.525C>T (p.Leu175=)4221MEN1Likely benign200155578RCV000475141|RCV000571355|RCV003311820; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457549264575492NC_000011.9:g.64575492G>AClinGen:CA061272C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.516T>C (p.Asp172=)4221MEN1Likely benign912509147RCV000573168|RCV000894832; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755016457550111:g.64575501A>GClinGen:CA223915742C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.514G>C (p.Asp172His)4221MEN1Uncertain significance1114167494RCV001964122; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755036457550364575503-
NM_001370259.2(MEN1):c.513G>C (p.Arg171=)4221MEN1Likely benign560870111RCV000204302|RCV001023601; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645755046457550411:g.64575504C>GClinGen:CA061255C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)4221MEN1Conflicting interpretations of pathogenicity607969RCV000034787|RCV000082337|RCV000119143|RCV000202713|RCV000210794|RCV001106456; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype 11645755056457550511:g.64575505C>TClinGen:CA009454C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.512G>C (p.Arg171Pro)4221MEN1Uncertain significance607969RCV001023592|RCV001318116; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755056457550511:g.64575505C>G-
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)4221MEN1Conflicting interpretations of pathogenicity143329068RCV000148612|RCV000410523|RCV000455664|RCV000569499|RCV000766972|RCV003153432; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MOND11645755066457550611:g.64575506G>AClinGen:CA009448C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.511C>G (p.Arg171Gly)4221MEN1Uncertain significance143329068RCV002041674|RCV003164019; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645755066457550664575506-
NM_001370259.2(MEN1):c.509T>C (p.Leu170Pro)4221MEN1Uncertain significance1941866849RCV001337463|RCV003294322; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645755086457550864575508-
NM_001370259.2(MEN1):c.506_507dup (p.Leu170fs)4221MEN1Pathogenic2136156268RCV001384988; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755096457551064575509-
NM_001370259.2(MEN1):c.507T>G (p.Gly169=)4221MEN1Likely benign-1RCV002834232; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457551064575510-
NM_001370259.2(MEN1):c.505G>A (p.Gly169Ser)4221MEN1Uncertain significance71526465RCV001211689; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755126457551211:g.64575512C>T-
NM_001370259.2(MEN1):c.505G>C (p.Gly169Arg)4221MEN1Uncertain significance71526465RCV001318355; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755126457551264575512-
NM_001370259.2(MEN1):c.504G>A (p.Leu168=)4221MEN1Likely benign1941867763RCV001444252|RCV003399233; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645755136457551364575513-
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)4221MEN1Pathogenic/Likely pathogenic386134256RCV000030205; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755146457551411:g.64575514A>GClinGen:CA009447,UniProtKB:O00255#VAR_039598C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.502C>G (p.Leu168Val)4221MEN1Uncertain significance1555165846RCV000632089; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755156457551511:g.64575515G>CClinGen:CA381186060C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.502C>T (p.Leu168=)4221MEN1Likely benign1555165846RCV001479658|RCV003380795; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645755156457551511:g.64575515G>A-
NM_001370259.2(MEN1):c.499G>A (p.Ala167Thr)4221MEN1Uncertain significance-1RCV003043807; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457551864575518NC_000011.9:g.64575518C>T-
NM_001370259.2(MEN1):c.498G>C (p.Gln166His)4221MEN1Uncertain significance-1RCV003110752; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457551964575519NC_000011.9:g.64575519C>G-
NM_001370259.2(MEN1):c.497A>C (p.Gln166Pro)4221MEN1Uncertain significance-1RCV003058092; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457552064575520NC_000011.9:g.64575520T>G-
NM_001370259.2(MEN1):c.496C>A (p.Gln166Lys)4221MEN1Uncertain significance1565648511RCV002028282; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755216457552164575521-
NM_001370259.2(MEN1):c.496C>G (p.Gln166Glu)4221MEN1Uncertain significance1565648511RCV002008712; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755216457552164575521-
NM_001370259.2(MEN1):c.495C>A (p.Cys165Ter)4221MEN1Pathogenic1592651767RCV000793204; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755226457552211:g.64575522G>T-
NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr)4221MEN1Likely pathogenic1057521111RCV000442726|RCV000632126; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755236457552311:g.64575523C>TClinGen:CA16605984C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.492C>T (p.Ala164=)4221MEN1Benign/Likely benign146759807RCV000030204|RCV000610718|RCV001023275; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645755256457552511:g.64575525G>AClinGen:CA009441C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.491C>T (p.Ala164Val)4221MEN1Likely pathogenic1565648547RCV000702798; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457552664575526NC_000011.9:g.64575526G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.491C>A (p.Ala164Asp)4221MEN1Likely pathogenic1565648547RCV001220086; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755266457552611:g.64575526G>T-
NM_001370259.2(MEN1):c.490G>T (p.Ala164Ser)4221MEN1Uncertain significance1311408888RCV000807278; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755276457552711:g.64575527C>A-
NM_001370259.2(MEN1):c.489G>A (p.Gly163=)4221MEN1Likely benign2136157212RCV002150012; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755286457552864575528-
NM_001370259.2(MEN1):c.485T>C (p.Val162Ala)4221MEN1Uncertain significance748648909RCV000632131|RCV002334065; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457553264575532NC_000011.9:g.64575532A>GClinGen:CA061208C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.484G>A (p.Val162Ile)4221MEN1Uncertain significance2136157511RCV001913494; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755336457553364575533-
NM_001370259.2(MEN1):c.483G>A (p.Val161=)4221MEN1Likely benign-1RCV002876382; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457553464575534-
NM_001370259.2(MEN1):c.481G>A (p.Val161Met)4221MEN1Uncertain significance1268563474RCV001370887|RCV002341802; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645755366457553664575536-
NM_001370259.2(MEN1):c.480T>C (p.Ala160=)4221MEN1Likely benign2136157794RCV001486862|RCV002342098; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645755376457553764575537-
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro)4221MEN1Pathogenic1565648656RCV000702232|RCV001269817|RCV002334355; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457553964575539NC_000011.9:g.64575539C>G-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.477T>G (p.Phe159Leu)4221MEN1Uncertain significance1941871397RCV001343081|RCV002341705; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645755406457554064575540-
NM_001370259.2(MEN1):c.474C>T (p.Ala158=)4221MEN1Likely benign772526802RCV000632164|RCV002331118; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457554364575543NC_000011.9:g.64575543G>AClinGen:CA061203C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.474del (p.Phe159fs)4221MEN1Pathogenic2136158237RCV001385039; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755436457554364575542-
NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp)4221MEN1Conflicting interpretations of pathogenicity794728617RCV000474814|RCV003380506; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457554464575544NC_000011.9:g.64575544G>TClinGen:CA009435C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.473C>T (p.Ala158Val)4221MEN1Uncertain significance794728617RCV000697548|RCV002334332; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457554464575544NC_000011.9:g.64575544G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.472G>A (p.Ala158Thr)4221MEN1Uncertain significance1421808873RCV001361174|RCV003298569; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645755456457554564575545-
NM_001370259.2(MEN1):c.471G>A (p.Val157=)4221MEN1Likely benign878855194RCV000233035|RCV000572540; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457554664575546NC_000011.9:g.64575546C>TClinGen:CA10582942C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.469G>A (p.Val157Met)4221MEN1Uncertain significance1555165872RCV000632108; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457554864575548NC_000011.9:g.64575548C>TClinGen:CA381186239C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp)4221MEN1Pathogenic/Likely pathogenic794728648RCV000425558|RCV000466874|RCV000491482; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645755506457555011:g.64575550C>TClinGen:CA16605985C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs)4221MEN1Likely pathogenic386134255RCV000030203; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755516457555211:g.64575551_64575552insAATTClinGen:CA009428C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.466G>C (p.Gly156Arg)4221MEN1Pathogenic/Likely pathogenic1085307471RCV000489416|RCV003155212; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755516457555111:g.64575551C>GClinGen:CA381186242CN517202 not provided;
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser)4221MEN1Conflicting interpretations of pathogenicity1085307471RCV000702784|RCV001269816|RCV002332492; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457555164575551NC_000011.9:g.64575551C>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys)4221MEN1Pathogenic/Likely pathogenic1085307471RCV001269563|RCV001880194|RCV002327616; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645755516457555111:g.64575551C>A-
NM_001370259.2(MEN1):c.465C>T (p.Ser155=)4221MEN1Likely benign936786553RCV000539439|RCV001022861; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645755526457555211:g.64575552G>AClinGen:CA223915904C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.464C>T (p.Ser155Phe)4221MEN1Uncertain significance-1RCV003062406; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457555364575553NC_000011.9:g.64575553G>A-
NM_001370259.2(MEN1):c.461G>T (p.Ser154Ile)4221MEN1Uncertain significance1941873896RCV001320603; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755566457555664575556-
NM_001370259.2(MEN1):c.459C>T (p.Asp153=)4221MEN1Likely benign-1RCV002815574; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457555864575558-
NM_001370259.2(MEN1):c.458A>T (p.Asp153Val)4221MEN1Pathogenic1565648789RCV000703817; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457555964575559NC_000011.9:g.64575559T>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala)4221MEN1Likely pathogenic1565648789RCV001973475; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755596457555964575559-
NM_001370259.2(MEN1):c.452A>G (p.Lys151Arg)4221MEN1Uncertain significance2136159495RCV001364235; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755656457556564575565-
NM_001370259.2(MEN1):c.451A>G (p.Lys151Glu)4221MEN1Uncertain significance2136159555RCV002005494; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755666457556664575566-
NM_001370259.2(MEN1):c.447C>T (p.Gly149=)4221MEN1Likely benign-1RCV002863723; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457557064575570-
NM_001370259.2(MEN1):c.446G>T (p.Gly149Val)4221MEN1Uncertain significance1444210255RCV001365861; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755716457557164575571-
NM_001370259.2(MEN1):c.446-1G>A4221MEN1Pathogenic1064793672RCV000487061|RCV001022519|RCV001851155; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755726457557211:g.64575572C>TClinGen:CA16619366CN517202 not provided;
NM_001370259.2(MEN1):c.446-1G>C4221MEN1Pathogenic1064793672RCV000820156; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755726457557211:g.64575572C>G-
NM_001370259.2(MEN1):c.446-2A>C4221MEN1Pathogenic886042035RCV000406326|RCV003233029; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755736457557311:g.64575573T>GClinGen:CA10603221CN517202 not provided;
NM_001370259.2(MEN1):c.446-2A>G4221MEN1Pathogenic886042035RCV000491191|RCV000696685|RCV002475967; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900116457557364575573NC_000011.9:g.64575573T>CClinGen:CA381186358C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.446-3C>A4221MEN1Uncertain significance377461506RCV000490866|RCV000531853; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755746457557411:g.64575574G>TClinGen:CA061191C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.446-3C>T4221MEN1Uncertain significance377461506RCV001338619; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755746457557464575574-
NM_001370259.2(MEN1):c.446-6C>A4221MEN1Uncertain significance1941875791RCV001054998; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755776457557711:g.64575577G>T-
NM_001370259.2(MEN1):c.446-7T>C4221MEN1Likely benign2136160148RCV002158677; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755786457557864575578-
NM_001370259.2(MEN1):c.446-9C>A4221MEN1Likely benign1371109251RCV000632170; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457558064575580NC_000011.9:g.64575580G>TClinGen:CA658797661C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.446-9C>G4221MEN1Likely benign1371109251RCV001466562; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755806457558064575580-
NM_001370259.2(MEN1):c.446-10C>T4221MEN1Likely benign1442401628RCV001426994; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755816457558111:g.64575581G>A-
NM_001370259.2(MEN1):c.446-10C>A4221MEN1Likely benign1442401628RCV002134478; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755816457558164575581-
NM_001370259.2(MEN1):c.446-11C>G4221MEN1Likely benign1273035105RCV002112622; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755826457558264575582-
NM_001370259.2(MEN1):c.446-12C>T4221MEN1Likely benign369411199RCV002081844; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755836457558364575583-
NM_001370259.2(MEN1):c.446-17A>G4221MEN1Likely benign-1RCV003030151; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457558864575588NC_000011.9:g.64575588T>C-
NM_001370259.2(MEN1):c.446-18T>C4221MEN1Likely benign2136160575RCV002099695; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645755896457558964575589-
NC_000011.10:g.(?_64809655)_(64810716_?)del4221MEN1Pathogenic-1RCV001033796; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457712764578188-1-
NC_000011.10:g.(?_64809655)_(64810716_?)dup4221MEN1Uncertain significance-1RCV001032045; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457712764578188-1-
NM_001370259.2(MEN1):c.445+10C>T4221MEN1Likely benign754044830RCV001411450; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771276457712764577127-
NM_001370259.2(MEN1):c.445+9C>G4221MEN1Likely benign2136177395RCV002175861; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771286457712864577128-
NM_001370259.2(MEN1):c.445+7G>T4221MEN1Likely benign2136177428RCV001487264; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771306457713064577130-
NC_000011.10:g.(?_64809659)_(64810115_?)del4221MEN1Pathogenic-1RCV000632178; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457713164577587-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.445+5G>A4221MEN1Uncertain significance1941974766RCV001233955; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771326457713211:g.64577132C>T-
NM_001370259.2(MEN1):c.445+4G>A4221MEN1Uncertain significance1941974933RCV001043217; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771336457713311:g.64577133C>T-
NM_001370259.2(MEN1):c.445+3T>C4221MEN1Uncertain significance2136177528RCV001980993; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771346457713464577134-
NM_001370259.2(MEN1):c.445+1G>T4221MEN1Likely pathogenic-1RCV002806707; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457713664577136NC_000011.9:g.64577136C>A-
NM_001370259.2(MEN1):c.443C>T (p.Thr148Ile)4221MEN1Uncertain significance-1RCV003288354|RCV003459820; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457713964577139-
NM_001370259.2(MEN1):c.442A>G (p.Thr148Ala)4221MEN1Uncertain significance1114167537RCV000492024|RCV001856929; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457714064577140NC_000011.9:g.64577140T>CClinGen:CA381186661C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.442del (p.Thr148fs)4221MEN1Pathogenic1941975256RCV001240328|RCV002327581; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645771406457714011:g.64577140_64577140del-
NM_001370259.2(MEN1):c.441C>T (p.Ile147=)4221MEN1Likely benign878855193RCV000230248|RCV002327146; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645771416457714111:g.64577141G>AClinGen:CA10582943C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.435C>T (p.Ser145=)4221MEN1Benign61736636RCV000082336|RCV000378351|RCV000491558|RCV000712292|RCV000999732; NMedGen:CN169374|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771476457714711:g.64577147G>AClinGen:CA009422C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.434G>C (p.Ser145Thr)4221MEN1Uncertain significance-1RCV002833155; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457714864577148NC_000011.9:g.64577148C>G-
NM_001370259.2(MEN1):c.432C>A (p.Phe144Leu)4221MEN1Uncertain significance2136177828RCV002032936; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771506457715064577150-
NM_001370259.2(MEN1):c.432C>G (p.Phe144Leu)4221MEN1Uncertain significance-1RCV003470097; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457715064577150-
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)4221MEN1Conflicting interpretations of pathogenicity1114167543RCV000491902|RCV001000177; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771526457715211:g.64577152A>CClinGen:CA381186717C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.428T>C (p.Leu143Pro)4221MEN1Uncertain significance2136178143RCV001969885; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771546457715464577154-
NM_001370259.2(MEN1):c.428T>G (p.Leu143Arg)4221MEN1Likely pathogenic-1RCV003233051; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457715464577154-
NM_001370259.2(MEN1):c.427C>G (p.Leu143Val)4221MEN1Uncertain significance-1RCV003121392; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457715564577155NC_000011.9:g.64577155G>C-
NM_001370259.2(MEN1):c.426C>T (p.Ser142=)4221MEN1Likely benign753252650RCV000458015|RCV002329087; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457715664577156NC_000011.9:g.64577156G>AClinGen:CA061134C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.425C>T (p.Ser142Phe)4221MEN1Uncertain significance1941976986RCV001322404; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771576457715764577157-
NM_001370259.2(MEN1):c.425C>A (p.Ser142Tyr)4221MEN1Uncertain significance1941976986RCV001338745|RCV002329309; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645771576457715764577157-
NM_001370259.2(MEN1):c.425C>G (p.Ser142Cys)4221MEN1Uncertain significance1941976986RCV001373824; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771576457715764577157-
NM_001370259.2(MEN1):c.422A>G (p.Gln141Arg)4221MEN1Uncertain significance758846538RCV001323222; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771606457716064577160-
NM_001370259.2(MEN1):c.421C>T (p.Gln141Ter)4221MEN1Pathogenic886039553RCV000255977|RCV000632106; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771616457716111:g.64577161G>AClinGen:CA10588534C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.420C>T (p.Ile140=)4221MEN1Likely benign-1RCV003086842; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457716264577162-
NM_001370259.2(MEN1):c.418A>T (p.Ile140Phe)4221MEN1Uncertain significance376510601RCV000632107|RCV002331117; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645771646457716411:g.64577164T>AClinGen:CA381186778C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.418A>G (p.Ile140Val)4221MEN1Uncertain significance-1RCV002834956; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457716464577164NC_000011.9:g.64577164T>C-
NM_001370259.2(MEN1):c.417C>G (p.His139Gln)4221MEN1Likely pathogenic386134254RCV000030202; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771656457716511:g.64577165G>CClinGen:CA009417C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.417C>T (p.His139=)4221MEN1Likely benign-1RCV003069294; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457716564577165-
NM_001370259.2(MEN1):c.416A>C (p.His139Pro)4221MEN1Likely pathogenic-1RCV003062407; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457716664577166NC_000011.9:g.64577166T>G-
NM_001370259.2(MEN1):c.416del (p.His139fs)4221MEN1Pathogenic-1RCV002828881; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457716664577166NC_000011.9:g.64577166del-
NM_001370259.2(MEN1):c.415C>G (p.His139Asp)4221MEN1Pathogenic104894263RCV000018179|RCV000491226; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645771676457716711:g.64577167G>CClinGen:CA009410,UniProtKB:O00255#VAR_005432,OMIM:613733.0023C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.406_415delinsTCCCT (p.Asp136fs)4221MEN1Pathogenic1592657785RCV000822487; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771676457717611:g.64577168_64577176del-
NM_001370259.2(MEN1):c.415C>T (p.His139Tyr)4221MEN1Pathogenic104894263RCV001224950; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771676457716711:g.64577167G>A-
NM_001370259.2(MEN1):c.411G>C (p.Arg137=)4221MEN1Likely benign371437505RCV001414060|RCV002320115; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645771716457717111:g.64577171C>G-
NM_001370259.2(MEN1):c.411G>T (p.Arg137=)4221MEN1Likely benign371437505RCV001410663; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771716457717164577171-
NM_001370259.2(MEN1):c.409C>T (p.Arg137Trp)4221MEN1Uncertain significance1208267598RCV000709160; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771736457717311:g.64577173G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.409C>A (p.Arg137=)4221MEN1Likely benign1208267598RCV001216091|RCV002322049; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645771736457717311:g.64577173G>T-
NM_001370259.2(MEN1):c.392_407dup (p.Asp136fs)4221MEN1Pathogenic-1RCV003013777; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457717464577175NC_000011.9:g.64577175_64577190dup-
NM_001370259.2(MEN1):c.406G>C (p.Asp136His)4221MEN1Uncertain significance1941979334RCV001327184|RCV003405552; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|11645771766457717664577176-
NM_001370259.2(MEN1):c.403A>C (p.Lys135Gln)4221MEN1Uncertain significance121913034RCV000226206; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457717964577179NC_000011.9:g.64577179T>GClinGen:CA10582944C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.402del (p.Phe134fs)4221MEN1Pathogenic397515385RCV000018161|RCV000182436|RCV000491332; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645771806457718011:g.64577180_64577180delClinGen:CA009401,OMIM:613733.0005C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.399C>T (p.Tyr133=)4221MEN1Likely benign1592657892RCV001021611|RCV001442297; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771836457718311:g.64577183G>A-
NM_001370259.2(MEN1):c.398A>G (p.Tyr133Cys)4221MEN1Uncertain significance1555166357RCV000555824; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771846457718411:g.64577184T>CClinGen:CA381187243C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.396C>T (p.Ser132=)4221MEN1Likely benign896947172RCV001021551|RCV001465314; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771866457718611:g.64577186G>A-
NM_001370259.2(MEN1):c.391C>T (p.Arg131Cys)4221MEN1Uncertain significance2136180282RCV001947792; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771916457719164577191-
NM_001370259.2(MEN1):c.390C>T (p.Ser130=)4221MEN1Likely benign771272168RCV001021418|RCV001462657; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771926457719211:g.64577192G>A-
NM_001370259.2(MEN1):c.388A>T (p.Ser130Cys)4221MEN1Uncertain significance2136180487RCV002018830; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645771946457719464577194-
NM_001370259.2(MEN1):c.387C>G (p.Leu129=)4221MEN1Likely benign1257890690RCV002079288|RCV002363637; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645771956457719564577195-
NM_001370259.2(MEN1):c.386del (p.Leu129fs)4221MEN1Pathogenic1565651223RCV000707308|RCV002352222; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457719664577196NC_000011.9:g.64577196del-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.381C>G (p.Asn127Lys)4221MEN1Uncertain significance1941981145RCV001320746; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772016457720164577201-
NM_001370259.2(MEN1):c.380A>G (p.Asn127Ser)4221MEN1Uncertain significance2136180841RCV001947719; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772026457720264577202-
NM_001370259.2(MEN1):c.378G>A (p.Trp126Ter)4221MEN1Pathogenic1555166365RCV000632079; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457720464577204NC_000011.9:g.64577204C>TClinGen:CA381187290C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.377G>A (p.Trp126Ter)4221MEN1Pathogenic2136181049RCV001916061; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772056457720564577205-
NM_001370259.2(MEN1):c.375A>T (p.Ile125=)4221MEN1Likely benign184896922RCV000464805|RCV001021065; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457720764577207NC_000011.9:g.64577207T>AClinGen:CA061103C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.375A>C (p.Ile125=)4221MEN1Likely benign184896922RCV000632172; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457720764577207NC_000011.9:g.64577207T>GClinGen:CA475163329C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.374T>C (p.Ile125Thr)4221MEN1Uncertain significance1941982084RCV001371842; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772086457720864577208-
NM_001370259.2(MEN1):c.373A>T (p.Ile125Leu)4221MEN1Uncertain significance1941982271RCV001913444; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772096457720964577209-
NM_001370259.2(MEN1):c.371_372del (p.Val124fs)4221MEN1Pathogenic1555166368RCV000626631|RCV001198162; N6 conditions|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457721064577211NC_000011.9:g.64577210_64577211delClinGen:CA658797663C4025337 Abnormality of calcium homeostasis;
NM_001370259.2(MEN1):c.369T>C (p.Asp123=)4221MEN1Likely benign1555166369RCV000632171; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457721364577213NC_000011.9:g.64577213A>GClinGen:CA475163341C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.367del (p.Asp123fs)4221MEN1Pathogenic1941982919RCV001215633; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772156457721511:g.64577215_64577215del-
NM_001370259.2(MEN1):c.367G>A (p.Asp123Asn)4221MEN1Uncertain significance1941982745RCV002014072; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772156457721564577215-
NM_001370259.2(MEN1):c.366C>T (p.Ser122=)4221MEN1Likely benign1592658043RCV000817967|RCV002453865; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645772166457721611:g.64577216G>A-
NM_001370259.2(MEN1):c.364T>C (p.Ser122Pro)4221MEN1Uncertain significance1941983276RCV001070452; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772186457721811:g.64577218A>G-
NM_001370259.2(MEN1):c.361G>A (p.Val121Ile)4221MEN1Uncertain significance863224812RCV000199154|RCV002460056; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457722164577221NC_000011.9:g.64577221C>TClinGen:CA338424C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.361G>T (p.Val121Phe)4221MEN1Uncertain significance863224812RCV000706162|RCV002458317; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457722164577221NC_000011.9:g.64577221C>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del)4221MEN1Pathogenic794728657RCV000018160|RCV000182460|RCV000491280; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457722264577224NC_000011.9:g.64577223TTC[1]ClinGen:CA009382,OMIM:613733.0004,OMIM:613733.0025C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.360G>A (p.Lys120=)4221MEN1Likely benign1477714779RCV001464659; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772226457722264577222-
NM_001370259.2(MEN1):c.358A>T (p.Lys120Ter)4221MEN1Pathogenic878855192RCV000232425; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457722464577224NC_000011.9:g.64577224T>AClinGen:CA10582945C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.352G>A (p.Val118Met)4221MEN1Uncertain significance1060499975RCV000472854|RCV002339107; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457723064577230NC_000011.9:g.64577230C>TClinGen:CA16613633C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.350del (p.Leu117fs)4221MEN1Pathogenic1555166387RCV000508545|RCV001380012|RCV002455979; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457723264577232NC_000011.9:g.64577232delClinGen:CA645509451CN169374 not specified;
NM_001370259.2(MEN1):c.350T>A (p.Leu117Gln)4221MEN1Uncertain significance-1RCV002300108|RCV003382883; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645772326457723264577232-
NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter)4221MEN1Pathogenic1060499992RCV000469372|RCV002451060; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457723664577236NC_000011.9:g.64577236C>AClinGen:CA16613475C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.346G>A (p.Glu116Lys)4221MEN1Uncertain significance1060499992RCV001296254; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772366457723664577236-
NM_001370259.2(MEN1):c.345T>C (p.Arg115=)4221MEN1Likely benign748948131RCV000632174|RCV002458003; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457723764577237NC_000011.9:g.64577237A>GClinGen:CA061085C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.344G>A (p.Arg115His)4221MEN1Uncertain significance1114167507RCV000491521|RCV000526098|RCV001755730; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900116457723864577238NC_000011.9:g.64577238C>TClinGen:CA381187365C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.343C>G (p.Arg115Gly)4221MEN1Uncertain significance1565651402RCV000709161|RCV001020310; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645772396457723911:g.64577239G>C-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.343del (p.Arg115fs)4221MEN1Pathogenic-1RCV002457107|RCV003099486; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772396457723964577238-
NM_001370259.2(MEN1):c.342C>T (p.Ser114=)4221MEN1Likely benign2136182809RCV002176239|RCV002454562; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645772406457724064577240-
NM_001370259.2(MEN1):c.340dup (p.Ser114fs)4221MEN1Pathogenic886041213RCV000309108|RCV000490981|RCV001046917; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772416457724211:g.64577241_64577242insTClinGen:CA10603131C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.340A>C (p.Ser114Arg)4221MEN1Uncertain significance2136182944RCV001896383; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772426457724264577242-
NM_001370259.2(MEN1):c.339C>T (p.Ser113=)4221MEN1Benign/Likely benign559635859RCV000197663|RCV000570477; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645772436457724311:g.64577243G>AClinGen:CA061082C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.338C>T (p.Ser113Phe)4221MEN1Uncertain significance1941986326RCV001305573; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772446457724464577244-
NM_001370259.2(MEN1):c.336C>G (p.Val112=)4221MEN1Likely benign1200092213RCV000925056|RCV001020110; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645772466457724611:g.64577246G>C-
NM_001370259.2(MEN1):c.336C>T (p.Val112=)4221MEN1Likely benign1200092213RCV002170731|RCV002454356; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645772466457724664577246-
NM_001370259.2(MEN1):c.333T>C (p.Gly111=)4221MEN1Likely benign1555166432RCV000632173; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772496457724911:g.64577249A>GClinGen:CA475163444C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.332G>T (p.Gly111Val)4221MEN1Uncertain significance2136183365RCV001957053; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772506457725064577250-
NM_001370259.2(MEN1):c.332del (p.Gly111fs)4221MEN1Pathogenic-1RCV003084889; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457725064577250NC_000011.9:g.64577254del-
NM_001370259.2(MEN1):c.332G>A (p.Gly111Asp)4221MEN1Uncertain significance-1RCV002599321; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457725064577250NC_000011.9:g.64577250C>T-
NM_001370259.2(MEN1):c.331G>C (p.Gly111Arg)4221MEN1Uncertain significance1941987221RCV001043888; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772516457725111:g.64577251C>G-
NM_001370259.2(MEN1):c.330G>C (p.Gly110=)4221MEN1Likely benign1060503792RCV001500044; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457725264577252NC_000011.9:g.64577252C>GClinGen:CA16613477C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.329G>C (p.Gly110Ala)4221MEN1Uncertain significance1389398299RCV000708706|RCV001036768; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772536457725311:g.64577253C>G-C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu)4221MEN1Conflicting interpretations of pathogenicity1389398299RCV001049265|RCV002320278; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645772536457725311:g.64577253C>T-
NM_001370259.2(MEN1):c.327A>C (p.Glu109Asp)4221MEN1Uncertain significance773976527RCV000338822|RCV000686479|RCV003343768; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645772556457725511:g.64577255T>GClinGen:CA061079C0020502 Hyperparathyroidism;
NM_001370259.2(MEN1):c.326A>G (p.Glu109Gly)4221MEN1Uncertain significance1555166447RCV000571825|RCV000632088; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772566457725611:g.64577256T>CClinGen:CA381187402C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.323del (p.Arg108fs)4221MEN1Pathogenic878855191RCV000229514; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772596457725911:g.64577259_64577259delClinGen:CA10582946C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.322_323insT (p.Arg108fs)4221MEN1Pathogenic1565651568RCV000687229; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772596457726011:g.64577259_64577260insA-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.323G>A (p.Arg108Gln)4221MEN1Uncertain significance1565651551RCV001214460; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772596457725911:g.64577259C>T-
NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter)4221MEN1Pathogenic794728647RCV000182446|RCV000491814|RCV000551465; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457726064577260NC_000011.9:g.64577260G>AClinGen:CA009370C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.322C>G (p.Arg108Gly)4221MEN1Uncertain significance794728647RCV000686088; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772606457726011:g.64577260G>C-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.321T>C (p.Pro107=)4221MEN1Likely benign2136184097RCV001396015; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772616457726164577261-
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)4221MEN1Pathogenic/Likely pathogenic-1RCV003062408; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457726164577262NC_000011.9:g.64577263dup-
NM_001370259.2(MEN1):c.319C>T (p.Pro107Ser)4221MEN1Uncertain significance1358503577RCV001215364; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772636457726311:g.64577263G>A-
NM_001370259.2(MEN1):c.319C>G (p.Pro107Ala)4221MEN1Uncertain significance-1RCV003461847; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457726364577263-
NM_001370259.2(MEN1):c.318T>A (p.Tyr106Ter)4221MEN1Pathogenic1060499987RCV000472445; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457726464577264NC_000011.9:g.64577264A>TClinGen:CA16613689C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.317_318del (p.Tyr106fs)4221MEN1Pathogenic1555166466RCV000539020; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772646457726511:g.64577264_64577265delClinGen:CA658658068C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.317A>G (p.Tyr106Cys)4221MEN1Uncertain significance1555166469RCV000571119|RCV000804799; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457726564577265NC_000011.9:g.64577265T>CClinGen:CA381187419C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.312_315dup (p.Tyr106fs)4221MEN1Pathogenic1592658517RCV000988574; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772666457726711:g.64577266_64577267insGAGG-
NM_001370259.2(MEN1):c.315C>G (p.Leu105=)4221MEN1Likely benign1238374960RCV001018866|RCV001504047; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772676457726711:g.64577267G>C-
NM_001370259.2(MEN1):c.313dup (p.Leu105fs)4221MEN1Pathogenic2136184555RCV001956107; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772686457726964577268-
NM_001370259.2(MEN1):c.313C>G (p.Leu105Val)4221MEN1Uncertain significance1941990096RCV001067526; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772696457726911:g.64577269G>C-
NM_001370259.2(MEN1):c.313C>T (p.Leu105Phe)4221MEN1Uncertain significance1941990096RCV001979663; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772696457726964577269-
NM_001370259.2(MEN1):c.312C>T (p.Ser104=)4221MEN1Likely benign1592658525RCV000933874; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772706457727011:g.64577270G>A-
NM_001370259.2(MEN1):c.311C>T (p.Ser104Phe)4221MEN1Uncertain significance1114167512RCV001931951; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772716457727164577271-
NM_001370259.2(MEN1):c.308T>G (p.Leu103Arg)4221MEN1Uncertain significance2136184835RCV001898307; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772746457727464577274-
NM_001370259.2(MEN1):c.307del (p.Leu103fs)4221MEN1Pathogenic794728639RCV000018159|RCV000182435|RCV000491671; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457727564577275NC_000011.9:g.64577276delClinGen:CA009358,OMIM:613733.0003C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.307C>T (p.Leu103=)4221MEN1Likely benign1313314117RCV000632147|RCV002319543; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645772756457727511:g.64577275G>AClinGen:CA475163532C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.306C>T (p.Asp102=)4221MEN1Likely benign-1RCV002647073|RCV003308210; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457727664577276-
NM_001370259.2(MEN1):c.303C>T (p.Val101=)4221MEN1Likely benign1463347315RCV000550285|RCV002448631; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457727964577279NC_000011.9:g.64577279G>AClinGen:CA475163545C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.303C>G (p.Val101=)4221MEN1Likely benign1463347315RCV002077438; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772796457727964577279-
NM_001370259.2(MEN1):c.302T>C (p.Val101Ala)4221MEN1Uncertain significance771936005RCV001367153; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772806457728064577280-
NM_001370259.2(MEN1):c.301G>A (p.Val101Ile)4221MEN1Uncertain significance1242887389RCV001018071|RCV001873307; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772816457728111:g.64577281C>T-
NM_001370259.2(MEN1):c.300C>G (p.Ala100=)4221MEN1Likely benign773136972RCV000679257|RCV000613769|RCV001087349|RCV002438305; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457728264577282NC_000011.9:g.64577282G>CClinGen:CA061062C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.300C>T (p.Ala100=)4221MEN1Likely benign773136972RCV001447332; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772826457728264577282-
NM_001370259.2(MEN1):c.299C>T (p.Ala100Val)4221MEN1Conflicting interpretations of pathogenicity998337367RCV000632142|RCV000679256|RCV001017890; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645772836457728311:g.64577283G>AClinGen:CA223917061C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.298G>T (p.Ala100Ser)4221MEN1Uncertain significance1592658683RCV000810478; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772846457728411:g.64577284C>A-
NM_001370259.2(MEN1):c.296G>C (p.Gly99Ala)4221MEN1Uncertain significance1941992512RCV001238639; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772866457728611:g.64577286C>G-
NM_001370259.2(MEN1):c.294A>T (p.Arg98=)4221MEN1Likely benign2136185660RCV001405558; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772886457728864577288-
NM_001370259.2(MEN1):c.293G>A (p.Arg98Gln)4221MEN1Uncertain significance1592658694RCV000808557; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772896457728911:g.64577289C>T-
NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter)4221MEN1Pathogenic886039413RCV000255438|RCV001244528|RCV002436089; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645772906457729011:g.64577290G>AClinGen:CA10588535CN517202 not provided;
NM_001370259.2(MEN1):c.288G>A (p.Gln96=)4221MEN1Likely benign2136185997RCV002219937; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772946457729464577294-
NM_001370259.2(MEN1):c.266_286del (p.Leu89_Ala95del)4221MEN1Conflicting interpretations of pathogenicity1064792906RCV000460992|RCV000478848; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202116457729664577316NC_000011.9:g.64577302_64577322delClinGen:CA16613478
NM_001370259.2(MEN1):c.286C>T (p.Gln96Ter)4221MEN1Pathogenic-1RCV003062410; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457729664577296NC_000011.9:g.64577296G>A-
NM_001370259.2(MEN1):c.280_284dup (p.Gln96fs)4221MEN1Pathogenic1555166494RCV000471670; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457729764577298NC_000011.9:g.64577299_64577303dupClinGen:CA16613482C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.283G>T (p.Ala95Ser)4221MEN1Uncertain significance1592658740RCV000817101; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772996457729911:g.64577299C>A-
NM_001370259.2(MEN1):c.283G>A (p.Ala95Thr)4221MEN1Uncertain significance-1RCV002435231|RCV003102778; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645772996457729964577299-
NM_001370259.2(MEN1):c.282C>T (p.Thr94=)4221MEN1Likely benign760442763RCV000206522|RCV000566889; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773006457730011:g.64577300G>AClinGen:CA061057C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.281C>T (p.Thr94Ile)4221MEN1Uncertain significance1565651820RCV000701865|RCV002440514|RCV003222115; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190011645773016457730111:g.64577301G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.275G>A (p.Arg92His)4221MEN1Uncertain significance375628323RCV001213301|RCV002436822; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773076457730711:g.64577307C>T-
NM_001370259.2(MEN1):c.274C>A (p.Arg92Ser)4221MEN1Uncertain significance1488275961RCV001106457|RCV001106458; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C002050211645773086457730811:g.64577308G>T-
NM_001370259.2(MEN1):c.274C>G (p.Arg92Gly)4221MEN1Uncertain significance1488275961RCV001217959; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773086457730811:g.64577308G>C-
NM_001370259.2(MEN1):c.274C>T (p.Arg92Cys)4221MEN1Uncertain significance1488275961RCV001204794; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773086457730811:g.64577308G>A-
NM_001370259.2(MEN1):c.274del (p.Arg92fs)4221MEN1Likely pathogenic2136186754RCV002223017; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773086457730864577307-
NM_001370259.2(MEN1):c.269_270dup (p.Ala91fs)4221MEN1Pathogenic1941994887RCV001043462; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773116457731211:g.64577311_64577312insAT-
NM_001370259.2(MEN1):c.271G>T (p.Ala91Ser)4221MEN1Uncertain significance2136186838RCV002028876|RCV003170568; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773116457731164577311-
NM_001370259.2(MEN1):c.269dup (p.Tyr90Ter)4221MEN1Pathogenic2136187018RCV001387770; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773126457731364577312-
NM_001370259.2(MEN1):c.269A>G (p.Tyr90Cys)4221MEN1Uncertain significance1565651873RCV000693398; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773136457731311:g.64577313T>C-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.267C>G (p.Leu89=)4221MEN1Likely benign1060499972RCV000470195|RCV002436376; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457731564577315NC_000011.9:g.64577315G>CClinGen:CA16613483C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.248_266del (p.Leu83fs)4221MEN1Pathogenic2136187161RCV001384977; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773166457733464577315-
NM_001370259.2(MEN1):c.266T>C (p.Leu89Pro)4221MEN1Uncertain significance2136187120RCV001881404; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773166457731664577316-
NM_001370259.2(MEN1):c.265C>T (p.Leu89Phe)4221MEN1Uncertain significance-1RCV002810697|RCV003167806; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457731764577317NC_000011.9:g.64577317G>A-
NM_001370259.2(MEN1):c.263C>G (p.Ala88Gly)4221MEN1Uncertain significance-1RCV002838705; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457731964577319NC_000011.9:g.64577319G>C-
NM_001370259.2(MEN1):c.259_260insTCGC (p.Ala87fs)4221MEN1Pathogenic-1RCV002872250; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457732264577323NC_000011.9:g.64577322_64577323insGCGA-
NM_001370259.2(MEN1):c.259G>A (p.Ala87Thr)4221MEN1Uncertain significance-1RCV003461848; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457732364577323-
NM_001370259.2(MEN1):c.258C>T (p.Ile86=)4221MEN1Likely benign759731868RCV001016032|RCV001426905; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773246457732411:g.64577324G>A-
NM_001370259.2(MEN1):c.252dup (p.Ile85fs)4221MEN1Pathogenic/Likely pathogenic386134253RCV000030201; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773296457733011:g.64577329_64577330insAClinGen:CA260457C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.252_253insTT (p.Ile85fs)4221MEN1Pathogenic386134253RCV000468271; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457732964577330NC_000011.9:g.64577330_64577331insAAClinGen:CA16613485C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.253A>G (p.Ile85Val)4221MEN1Uncertain significance-1RCV003470091; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457732964577329-
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)4221MEN1Pathogenic587776841RCV000018173|RCV000206170|RCV000182434|RCV000491114; NMedGen:C4017330|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773306457733311:g.64577330_64577333delClinGen:CA009345,OMIM:613733.0002,OMIM:613733.0017C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.252T>C (p.Ser84=)4221MEN1Likely benign1592658989RCV001505382; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773306457733011:g.64577330A>G-
NM_001370259.2(MEN1):c.247_249dup (p.Leu83_Ser84insLeu)4221MEN1Uncertain significance-1RCV002861410; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457733264577333NC_000011.9:g.64577333_64577335dup-
NM_001370259.2(MEN1):c.249G>A (p.Leu83=)4221MEN1Likely benign386134252RCV000030200; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773336457733311:g.64577333C>TClinGen:CA009351C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.249G>T (p.Leu83=)4221MEN1Likely benign386134252RCV001395035; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773336457733364577333-
NM_001370259.2(MEN1):c.248T>A (p.Leu83Gln)4221MEN1Uncertain significance752747097RCV001040361; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773346457733411:g.64577334A>T-
NM_001370259.2(MEN1):c.248T>C (p.Leu83Pro)4221MEN1Conflicting interpretations of pathogenicity752747097RCV001361208|RCV003169798; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773346457733464577334-
NM_001370259.2(MEN1):c.246C>G (p.Asp82Glu)4221MEN1Uncertain significance1238113583RCV000557501|RCV002431542; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457733664577336NC_000011.9:g.64577336G>CClinGen:CA381187564C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.246C>T (p.Asp82=)4221MEN1Likely benign1238113583RCV002170805|RCV002443107; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773366457733664577336-
NM_001370259.2(MEN1):c.244G>C (p.Asp82His)4221MEN1Uncertain significance1419086083RCV000549380|RCV002431541; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457733864577338NC_000011.9:g.64577338C>GClinGen:CA381187571C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.244G>A (p.Asp82Asn)4221MEN1Uncertain significance1419086083RCV001300074; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773386457733864577338-
NM_001370259.2(MEN1):c.244G>T (p.Asp82Tyr)4221MEN1Uncertain significance-1RCV003470095; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457733864577338-
NM_001370259.2(MEN1):c.243C>T (p.Ala81=)4221MEN1Likely benign-1RCV002780370; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457733964577339-
NM_001370259.2(MEN1):c.241G>A (p.Ala81Thr)4221MEN1Uncertain significance2136188110RCV001954080; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773416457734164577341-
NM_001370259.2(MEN1):c.241del (p.Ala81fs)4221MEN1Pathogenic-1RCV003029164; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457734164577341NC_000011.9:g.64577342del-
NM_001370259.2(MEN1):c.240G>T (p.Val80=)4221MEN1Likely benign1555166545RCV000632150; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773426457734211:g.64577342C>AClinGen:CA475163770C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.238del (p.Val80fs)4221MEN1Pathogenic2136188216RCV001381751; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773446457734464577343-
NM_001370259.2(MEN1):c.238G>A (p.Val80Met)4221MEN1Uncertain significance-1RCV002629633; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457734464577344NC_000011.9:g.64577344C>T-
NM_001370259.2(MEN1):c.237del (p.Val80fs)4221MEN1Pathogenic1114167486RCV000491464|RCV000704558; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457734564577345NC_000011.9:g.64577347delClinGen:CA475163782C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.237C>T (p.Pro79=)4221MEN1Likely benign1592659200RCV001015323|RCV002068904; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773456457734511:g.64577345G>A-
NM_001370259.2(MEN1):c.237C>G (p.Pro79=)4221MEN1Likely benign1592659200RCV001473443; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773456457734564577345-
NM_001370259.2(MEN1):c.236C>G (p.Pro79Arg)4221MEN1Uncertain significance1555166557RCV000632130; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773466457734611:g.64577346G>CClinGen:CA381187585C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.236C>T (p.Pro79Leu)4221MEN1Uncertain significance1555166557RCV000804127|RCV002453782; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773466457734611:g.64577346G>A-
NM_001370259.2(MEN1):c.234dup (p.Pro79fs)4221MEN1Pathogenic2136188431RCV001390533|RCV003382568; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773476457734864577347-
NM_001370259.2(MEN1):c.235C>G (p.Pro79Ala)4221MEN1Uncertain significance-1RCV003003144; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457734764577347NC_000011.9:g.64577347G>C-
NM_001370259.2(MEN1):c.234T>C (p.Phe78=)4221MEN1Likely benign2136188387RCV001503354; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773486457734864577348-
NM_001370259.2(MEN1):c.234del (p.Val80fs)4221MEN1Pathogenic2136188431RCV001917452; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773486457734864577347-
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)4221MEN1Pathogenic/Likely pathogenic1555166567RCV000632123|RCV002248835|RCV002448939; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773516457735111:g.64577351G>CClinGen:CA381187598C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.230A>G (p.Tyr77Cys)4221MEN1Uncertain significance-1RCV002446416|RCV003101729; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773526457735264577352-
NM_001370259.2(MEN1):c.228C>T (p.Thr76=)4221MEN1Likely benign1394017906RCV001423824|RCV002445006; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773546457735411:g.64577354G>A-
NM_001370259.2(MEN1):c.228C>G (p.Thr76=)4221MEN1Likely benign1394017906RCV001046976; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773546457735411:g.64577354G>C-
NM_001370259.2(MEN1):c.227C>A (p.Thr76Asn)4221MEN1Uncertain significance886039752RCV000255896|RCV001246047; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773556457735511:g.64577355G>TClinGen:CA10588536CN169374 not specified;
NM_001370259.2(MEN1):c.227C>T (p.Thr76Ile)4221MEN1Uncertain significance-1RCV002510439|RCV002569437; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457735564577355NC_000011.9:g.64577355G>A-
NM_001370259.2(MEN1):c.226A>T (p.Thr76Ser)4221MEN1Uncertain significance1592659343RCV001226580|RCV003346392; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773566457735611:g.64577356T>A-
NM_001370259.2(MEN1):c.225C>A (p.Leu75=)4221MEN1Likely benign1333791405RCV000603478|RCV001427745; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773576457735711:g.64577357G>TClinGen:CA475163804CN169374 not specified;
NM_001370259.2(MEN1):c.225C>T (p.Leu75=)4221MEN1Likely benign1333791405RCV001436230|RCV002442837; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773576457735711:g.64577357G>A-
NM_001370259.2(MEN1):c.220G>T (p.Gly74Cys)4221MEN1Uncertain significance2136188922RCV001968176|RCV003170196; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773626457736264577362-
NM_001370259.2(MEN1):c.219C>T (p.Gly73=)4221MEN1Likely benign758434243RCV001435855|RCV002432212|RCV003405663; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190011645773636457736364577363-
NM_001370259.2(MEN1):c.219C>A (p.Gly73=)4221MEN1Likely benign-1RCV002871928; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457736364577363-
NM_001370259.2(MEN1):c.216_217insA (p.Gly73fs)4221MEN1Pathogenic-1RCV002815912; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457736564577366NC_000011.9:g.64577365_64577366insT-
NM_001370259.2(MEN1):c.217G>T (p.Gly73Cys)4221MEN1Uncertain significance-1RCV002963215; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457736564577365NC_000011.9:g.64577365C>A-
NM_001370259.2(MEN1):c.216T>G (p.Pro72=)4221MEN1Likely benign1592659467RCV001409524|RCV002420914; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773666457736664577366-
NM_001370259.2(MEN1):c.215C>A (p.Pro72His)4221MEN1Uncertain significance878856863RCV000695116|RCV002422524; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457736764577367NC_000011.9:g.64577367G>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.215C>T (p.Pro72Leu)4221MEN1Uncertain significance878856863RCV001910996; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773676457736764577367-
NM_001370259.2(MEN1):c.213G>T (p.Pro71=)4221MEN1Likely benign778154183RCV002101973|RCV002427676; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773696457736964577369-
NM_001370259.2(MEN1):c.213G>A (p.Pro71=)4221MEN1Likely benign778154183RCV002114571|RCV003161591; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773696457736964577369-
NM_001370259.2(MEN1):c.211_212del (p.Pro71fs)4221MEN1Pathogenic386134251RCV000030199|RCV000182433; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645773706457737111:g.64577370_64577371delClinGen:CA009338C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.211C>T (p.Pro71Ser)4221MEN1Uncertain significance1592659522RCV000805744; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773716457737111:g.64577371G>A-
NM_001370259.2(MEN1):c.210C>A (p.Asp70Glu)4221MEN1Uncertain significance150308912RCV000574548|RCV000796273; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457737264577372NC_000011.9:g.64577372G>TClinGen:CA061004C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.210C>G (p.Asp70Glu)4221MEN1Uncertain significance150308912RCV001982471; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773726457737264577372-
NM_001370259.2(MEN1):c.208G>T (p.Asp70Tyr)4221MEN1Uncertain significance1283021293RCV000792347|RCV002422678; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773746457737411:g.64577374C>A-
NM_001370259.2(MEN1):c.208G>A (p.Asp70Asn)4221MEN1Uncertain significance1283021293RCV001305245|RCV002418924; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773746457737464577374-
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs)4221MEN1Pathogenic730882136RCV000161945|RCV000182459|RCV002415705; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457737564577376NC_000011.9:g.64577376GGGGC[3]ClinGen:CA009325C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.207C>A (p.Pro69=)4221MEN1Likely benign2136189522RCV001501661; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773756457737564577375-
NM_001370259.2(MEN1):c.205C>T (p.Pro69Ser)4221MEN1Uncertain significance1060499995RCV000461607|RCV003362788|RCV003401444; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|116457737764577377NC_000011.9:g.64577377G>AClinGen:CA16613486C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.204C>A (p.Ala68=)4221MEN1Likely benign2136189673RCV002076219|RCV002416461; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773786457737864577378-
NM_001370259.2(MEN1):c.204C>T (p.Ala68=)4221MEN1Likely benign2136189673RCV002153612; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773786457737864577378-
NM_001370259.2(MEN1):c.203C>T (p.Ala68Val)4221MEN1Uncertain significance1319371332RCV000697108; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773796457737911:g.64577379G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.202G>A (p.Ala68Thr)4221MEN1Uncertain significance1343345477RCV000699868|RCV002422559; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457738064577380NC_000011.9:g.64577380C>T-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.201C>T (p.Pro67=)4221MEN1Likely benign1060503791RCV000460216|RCV000563989; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457738164577381NC_000011.9:g.64577381G>AClinGen:CA16613634C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs)4221MEN1Pathogenic1555166609RCV000462360|RCV001269621|RCV002418346; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457738164577382NC_000011.9:g.64577384GCTGG[3]ClinGen:CA16613636C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.201del (p.Ala68fs)4221MEN1Pathogenic2136189816RCV001374378; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773816457738164577380-
NM_001370259.2(MEN1):c.200C>T (p.Pro67Leu)4221MEN1Likely benign757766498RCV001037759; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773826457738211:g.64577382G>A-
NM_001370259.2(MEN1):c.200C>G (p.Pro67Arg)4221MEN1Uncertain significance757766498RCV002017599|RCV002423231; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773826457738264577382-
NM_001370259.2(MEN1):c.198C>T (p.Ser66=)4221MEN1Likely benign2136189969RCV001408853|RCV002420911; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773846457738464577384-
NM_001370259.2(MEN1):c.197G>T (p.Ser66Ile)4221MEN1Uncertain significance-1RCV002711270|RCV003308243; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457738564577385NC_000011.9:g.64577385C>A-
NM_001370259.2(MEN1):c.196A>C (p.Ser66Arg)4221MEN1Uncertain significance1942005110RCV001364873|RCV003298585; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773866457738664577386-
NM_001370259.2(MEN1):c.195C>A (p.Pro65=)4221MEN1Likely benign1438097332RCV000632176; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773876457738711:g.64577387G>TClinGen:CA475163864C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.195C>T (p.Pro65=)4221MEN1Likely benign1438097332RCV002184214; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773876457738764577387-
NM_001370259.2(MEN1):c.195del (p.Ser66fs)4221MEN1Pathogenic-1RCV002889811; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457738764577387NC_000011.9:g.64577389del-
NM_001370259.2(MEN1):c.194C>A (p.Pro65His)4221MEN1Uncertain significance1114167484RCV000491453|RCV001856928; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457738864577388NC_000011.9:g.64577388G>TClinGen:CA381187672C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.193C>A (p.Pro65Thr)4221MEN1Uncertain significance1235900915RCV000632119; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457738964577389NC_000011.9:g.64577389G>TClinGen:CA381187675C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.189C>G (p.Phe63Leu)4221MEN1Uncertain significance137880635RCV000523092|RCV000559995|RCV001013550|RCV001821464; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN16937411645773936457739311:g.64577393G>CClinGen:CA060980C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.189C>T (p.Phe63=)4221MEN1Likely benign137880635RCV002088727; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645773936457739364577393-
NM_001370259.2(MEN1):c.188T>A (p.Phe63Tyr)4221MEN1Uncertain significance1366457977RCV000820097|RCV001013466; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645773946457739411:g.64577394A>T-
NM_001370259.2(MEN1):c.184A>C (p.Thr62Pro)4221MEN1Uncertain significance1555166619RCV000632143; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457739864577398NC_000011.9:g.64577398T>GClinGen:CA381187694C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.183C>A (p.Leu61=)4221MEN1Likely benign1555166622RCV000632146; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457739964577399NC_000011.9:g.64577399G>TClinGen:CA475163881C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.180G>A (p.Glu60=)4221MEN1Likely benign2136190736RCV002137658|RCV002409530; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774026457740264577402-
NM_001370259.2(MEN1):c.179A>G (p.Glu60Gly)4221MEN1Uncertain significance1942007547RCV001234671; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774036457740311:g.64577403T>C-
NM_001370259.2(MEN1):c.178G>A (p.Glu60Lys)4221MEN1Uncertain significance1174208039RCV001071121|RCV002402482; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774046457740411:g.64577404C>T-
NM_001370259.2(MEN1):c.178G>C (p.Glu60Gln)4221MEN1Uncertain significance1174208039RCV001864219|RCV003289130; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MeSH:D030342,MedGen:C095012311645774046457740464577404-
NM_001370259.2(MEN1):c.177C>T (p.Pro59=)4221MEN1Uncertain significance749001511RCV000632118; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457740564577405NC_000011.9:g.64577405G>AClinGen:CA475163890C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.177C>G (p.Pro59=)4221MEN1Likely benign749001511RCV000679254|RCV002060848; NMedGen:C3661900|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457740564577405NC_000011.9:g.64577405G>C-CN517202 not provided;
NM_001370259.2(MEN1):c.176C>G (p.Pro59Arg)4221MEN1Uncertain significance768445858RCV000809017; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774066457740611:g.64577406G>C-
NM_001370259.2(MEN1):c.175C>G (p.Pro59Ala)4221MEN1Uncertain significance1352823623RCV000632128|RCV002404748; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774076457740711:g.64577407G>CClinGen:CA381187714C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.175C>T (p.Pro59Ser)4221MEN1Uncertain significance1352823623RCV001013000|RCV001860729; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774076457740711:g.64577407G>A-
NM_001370259.2(MEN1):c.162_173del (p.Thr56_Pro59del)4221MEN1Uncertain significance-1RCV003009590; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457740964577420NC_000011.9:g.64577410_64577421del-
NM_001370259.2(MEN1):c.171C>A (p.Asn57Lys)4221MEN1Uncertain significance1171829753RCV001012867|RCV001218098; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774116457741111:g.64577411G>T-
NM_001370259.2(MEN1):c.171C>T (p.Asn57=)4221MEN1Likely benign1171829753RCV002139856|RCV002400350; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774116457741164577411-
NM_001370259.2(MEN1):c.168del (p.Asn57fs)4221MEN1Pathogenic/Likely pathogenic1060499990RCV000460562|RCV000486690; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN517202116457741464577414NC_000011.9:g.64577415delClinGen:CA16613697C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.165T>A (p.Pro55=)4221MEN1Likely benign1060503790RCV001498825; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457741764577417NC_000011.9:g.64577417A>TClinGen:CA16613638C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.165T>C (p.Pro55=)4221MEN1Likely benign1060503790RCV001482401; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774176457741711:g.64577417A>G-
NM_001370259.2(MEN1):c.163C>T (p.Pro55Ser)4221MEN1Uncertain significance-1RCV003015713; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457741964577419NC_000011.9:g.64577419G>A-
NM_001370259.2(MEN1):c.162C>T (p.Ile54=)4221MEN1Likely benign1555166662RCV000562193|RCV001505816; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457742064577420NC_000011.9:g.64577420G>AClinGen:CA475163916C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.160del (p.Ile54fs)4221MEN1Pathogenic-1RCV002736426; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457742264577422NC_000011.9:g.64577422del-
NM_001370259.2(MEN1):c.159C>T (p.Val53=)4221MEN1Likely benign1411927545RCV001407849; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774236457742311:g.64577423G>A-
NM_001370259.2(MEN1):c.159C>A (p.Val53=)4221MEN1Likely benign1411927545RCV001426354; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774236457742364577423-
NM_001370259.2(MEN1):c.159C>G (p.Val53=)4221MEN1Likely benign1411927545RCV001480451; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774236457742364577423-
NM_001370259.2(MEN1):c.157G>C (p.Val53Leu)4221MEN1Uncertain significance2136191735RCV001941308; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774256457742564577425-
NM_001370259.2(MEN1):c.156C>A (p.Arg52=)4221MEN1Likely benign1592659960RCV001451254; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774266457742611:g.64577426G>T-
NM_001370259.2(MEN1):c.156C>T (p.Arg52=)4221MEN1Likely benign1592659960RCV001428860; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774266457742664577426-
NM_001370259.2(MEN1):c.155G>A (p.Arg52His)4221MEN1Uncertain significance1942010221RCV001050537|RCV002400286; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774276457742711:g.64577427C>T-
NM_001370259.2(MEN1):c.154C>T (p.Arg52Cys)4221MEN1Uncertain significance1555166664RCV000562813|RCV002530339; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774286457742811:g.64577428G>AClinGen:CA381187771C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly)4221MEN1Uncertain significance1555166664RCV001340367; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774286457742864577428-
NM_001370259.2(MEN1):c.154C>A (p.Arg52Ser)4221MEN1Uncertain significance-1RCV002300432; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774286457742864577428-
NM_001370259.2(MEN1):c.153C>T (p.Asn51=)4221MEN1Likely benign1555166669RCV000527744|RCV002404382; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774296457742911:g.64577429G>AClinGen:CA475163932C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.152dup (p.Asn51fs)4221MEN1Pathogenic869312167RCV002002502; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774296457743064577429-
NM_001370259.2(MEN1):c.153C>G (p.Asn51Lys)4221MEN1Uncertain significance-1RCV002837678; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457742964577429NC_000011.9:g.64577429G>C-
NM_001370259.2(MEN1):c.152A>G (p.Asn51Ser)4221MEN1Uncertain significance1942010838RCV001239337; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774306457743011:g.64577430T>C-
NM_001370259.2(MEN1):c.150C>T (p.Val50=)4221MEN1Likely benign2136192168RCV002163718|RCV002391337; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774326457743264577432-
NM_001370259.2(MEN1):c.148G>A (p.Val50Ile)4221MEN1Uncertain significance1942011354RCV001062618; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774346457743411:g.64577434C>T-
NM_001370259.2(MEN1):c.148G>C (p.Val50Leu)4221MEN1Uncertain significance1942011354RCV001898471; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774346457743464577434-
NM_001370259.2(MEN1):c.146C>T (p.Ala49Val)4221MEN1Uncertain significance1555166674RCV000632133|RCV003380647; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774366457743611:g.64577436G>AClinGen:CA381187800C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.145G>A (p.Ala49Thr)4221MEN1Uncertain significance1942011819RCV001205296; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774376457743711:g.64577437C>T-
NM_001370259.2(MEN1):c.145G>T (p.Ala49Ser)4221MEN1Uncertain significance-1RCV002627787; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457743764577437NC_000011.9:g.64577437C>A-
NM_001370259.2(MEN1):c.139_143dup (p.Ala49fs)4221MEN1Pathogenic-1RCV003040679; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457743864577439NC_000011.9:g.64577440_64577444dup-
NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro)4221MEN1Conflicting interpretations of pathogenicity1592660057RCV001011589|RCV001860673; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774396457743911:g.64577439A>G-
NM_001370259.2(MEN1):c.142del (p.Leu48fs)4221MEN1Pathogenic1555166681RCV000632124; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457744064577440NC_000011.9:g.64577440delClinGen:CA658797665C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.142C>T (p.Leu48=)4221MEN1Likely benign2136192593RCV002208150; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774406457744064577440-
NM_001370259.2(MEN1):c.137A>C (p.His46Pro)4221MEN1Uncertain significance2136192730RCV001999316; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774456457744564577445-
NM_001370259.2(MEN1):c.137A>T (p.His46Leu)4221MEN1Likely pathogenic-1RCV003233050; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457744564577445-
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)4221MEN1Pathogenic/Likely pathogenic778670301RCV000464526|RCV001011173; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457744764577447NC_000011.9:g.64577447C>GClinGen:CA16613432C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.135G>A (p.Glu45=)4221MEN1Likely benign778670301RCV001490664|RCV002384808; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774476457744764577447-
NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly)4221MEN1Pathogenic1592660101RCV000796726; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774486457744811:g.64577448T>C-
NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys)4221MEN1Pathogenic1114167491RCV000491351|RCV000696687; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457744964577449NC_000011.9:g.64577449C>TClinGen:CA381187857C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.133G>C (p.Glu45Gln)4221MEN1Pathogenic-1RCV003058327; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457744964577449NC_000011.9:g.64577449C>G-
NM_001370259.2(MEN1):c.132G>T (p.Val44=)4221MEN1Likely benign1555166691RCV000632155; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457745064577450NC_000011.9:g.64577450C>AClinGen:CA475162946C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.129C>G (p.Phe43Leu)4221MEN1Uncertain significance1592660139RCV000815127; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774536457745311:g.64577453G>C-
NM_001370259.2(MEN1):c.126C>T (p.Gly42=)4221MEN1Likely benign2136193097RCV001471189; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774566457745664577456-
NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala)4221MEN1Pathogenic1565652689RCV000802906; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774576457745711:g.64577457C>G-
NM_001370259.2(MEN1):c.119_124del (p.Val40_Leu41del)4221MEN1Uncertain significance386134248RCV000030195|RCV000722115; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374116457745864577463NC_000011.9:g.64577461_64577466delClinGen:CA009063
NM_001370259.2(MEN1):c.124G>A (p.Gly42Ser)4221MEN1Conflicting interpretations of pathogenicity1942013583RCV001302220|RCV001812275; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645774586457745864577458-
NM_001370259.2(MEN1):c.108_122dup (p.Leu37_Leu41dup)4221MEN1Uncertain significance1555166695RCV000632140; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774596457746011:g.64577459_64577460insAGCACCAAGGAAAGGClinGen:CA658797666C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del)4221MEN1Pathogenic/Likely pathogenic1555166695RCV000491599|RCV002527049; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457746064577474NC_000011.9:g.64577467_64577481delClinGen:CA645369572
NM_001370259.2(MEN1):c.121C>T (p.Leu41=)4221MEN1Likely benign1441672096RCV001010404|RCV001427949; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774616457746111:g.64577461G>A-
NM_001370259.2(MEN1):c.120G>T (p.Val40=)4221MEN1Likely benign1306316325RCV001478208; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774626457746211:g.64577462C>A-
NM_001370259.2(MEN1):c.117_118del (p.Leu39fs)4221MEN1Pathogenic2136193574RCV001384373; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774646457746564577463-
NM_001370259.2(MEN1):c.117G>A (p.Leu39=)4221MEN1Uncertain significance2136193601RCV001872788; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774656457746564577465-
NM_001370259.2(MEN1):c.115T>C (p.Leu39=)4221MEN1Likely benign863224438RCV000195578|RCV001010026; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774676457746711:g.64577467A>GClinGen:CA335778C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.114C>G (p.Ser38=)4221MEN1Likely benign1252317486RCV000533537|RCV002456059; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457746864577468NC_000011.9:g.64577468G>CClinGen:CA475163013C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)4221MEN1Pathogenic/Likely pathogenic794728616RCV000491203|RCV000632104; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457746964577469NC_000011.9:g.64577469G>AClinGen:CA009043C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.108C>G (p.Leu36=)4221MEN1Likely benign1592660352RCV001493987; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774746457747411:g.64577474G>C-
NM_001370259.2(MEN1):c.108C>T (p.Leu36=)4221MEN1Likely benign-1RCV002909092; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457747464577474-
NM_001370259.2(MEN1):c.105dup (p.Leu36fs)4221MEN1Pathogenic1555166711RCV000486614|RCV001851251; NMedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457747664577477NC_000011.9:g.64577477dupClinGen:CA16619368CN517202 not provided;
NM_001370259.2(MEN1):c.103G>C (p.Val35Leu)4221MEN1Uncertain significance-1RCV003047426; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457747964577479NC_000011.9:g.64577479C>G-
NM_001370259.2(MEN1):c.102G>A (p.Leu34=)4221MEN1Likely benign1255708093RCV001402881|RCV002382145; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774806457748011:g.64577480C>T-
NM_001370259.2(MEN1):c.102G>C (p.Leu34=)4221MEN1Likely benign1255708093RCV001490151|RCV002255674; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774806457748064577480-
NM_001370259.2(MEN1):c.100C>A (p.Leu34Met)4221MEN1Uncertain significance771554497RCV000229989|RCV000492008; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457748264577482NC_000011.9:g.64577482G>TClinGen:CA10582947C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.100C>T (p.Leu34=)4221MEN1Likely benign771554497RCV000632162; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457748264577482NC_000011.9:g.64577482G>AClinGen:CA059683C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.99C>T (p.Asp33=)4221MEN1Likely benign-1RCV002839220; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457748364577483-
NM_001370259.2(MEN1):c.99C>G (p.Asp33Glu)4221MEN1Uncertain significance-1RCV003023285; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457748364577483NC_000011.9:g.64577483G>C-
NM_001370259.2(MEN1):c.96G>A (p.Pro32=)4221MEN1Likely benign1268807885RCV001470858; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774866457748664577486-
NM_001370259.2(MEN1):c.95C>T (p.Pro32Leu)4221MEN1Uncertain significance2136194414RCV001930980|RCV002386734; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774876457748764577487-
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)4221MEN1Conflicting interpretations of pathogenicity-1RCV002385283|RCV003094838; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774876457748764577487-
NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser)4221MEN1Conflicting interpretations of pathogenicity773089218RCV000463945|RCV000562829|RCV003329276; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457748864577488NC_000011.9:g.64577488G>AClinGen:CA061878C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.92A>T (p.Glu31Val)4221MEN1Uncertain significance1060499977RCV000458419|RCV001019129; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457749064577490NC_000011.9:g.64577490T>AClinGen:CA16613698C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.92A>G (p.Glu31Gly)4221MEN1Uncertain significance1060499977RCV000632084; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774906457749011:g.64577490T>CClinGen:CA381188001C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.91G>A (p.Glu31Lys)4221MEN1Uncertain significance1942017514RCV001238297; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774916457749111:g.64577491C>T-
NM_001370259.2(MEN1):c.89A>G (p.Glu30Gly)4221MEN1Conflicting interpretations of pathogenicity1942017685RCV001294396|RCV002375337; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774936457749364577493-
NM_001370259.2(MEN1):c.88G>A (p.Glu30Lys)4221MEN1Uncertain significance2136194576RCV002041388|RCV003299031; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774946457749464577494-
NM_001370259.2(MEN1):c.87A>C (p.Arg29=)4221MEN1Likely benign1198070818RCV000632158|RCV003162807; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457749564577495NC_000011.9:g.64577495T>GClinGen:CA475163090C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter)4221MEN1Pathogenic794728615RCV000474533|RCV000491222; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457749764577497NC_000011.9:g.64577497G>AClinGen:CA009645C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.85C>G (p.Arg29Gly)4221MEN1Uncertain significance794728615RCV001303630|RCV002447301; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645774976457749764577497-
NM_001370259.2(MEN1):c.85C>A (p.Arg29=)4221MEN1Likely benign794728615RCV002168427; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774976457749764577497-
NM_001370259.2(MEN1):c.84C>T (p.Gly28=)4221MEN1Likely benign2136194730RCV002196156; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645774986457749864577498-
NM_001370259.2(MEN1):c.82_83delinsAA (p.Gly28Asn)4221MEN1Uncertain significance-1RCV003011805; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457749964577500NC_000011.9:g.64577499_64577500delinsTT-
NM_001370259.2(MEN1):c.82G>A (p.Gly28Ser)4221MEN1Uncertain significance953827589RCV001054889|RCV003160439; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775006457750011:g.64577500C>T-
NM_001370259.2(MEN1):c.82G>C (p.Gly28Arg)4221MEN1Uncertain significance953827589RCV001327130|RCV002431933; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775006457750064577500-
NM_001370259.2(MEN1):c.81G>C (p.Leu27=)4221MEN1Likely benign1592660553RCV002064804|RCV002427205; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775016457750111:g.64577501C>G-
NM_001370259.2(MEN1):c.81G>T (p.Leu27=)4221MEN1Likely benign-1RCV002867218; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457750164577501-
NM_001370259.2(MEN1):c.79C>T (p.Leu27=)4221MEN1Likely benign1006536599RCV001429118|RCV002416068; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775036457750311:g.64577503G>A-
NM_001370259.2(MEN1):c.79C>G (p.Leu27Val)4221MEN1Uncertain significance1006536599RCV001039845; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775036457750311:g.64577503G>C-
NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys)4221MEN1Pathogenic/Likely pathogenic28931612RCV000018169|RCV000490040|RCV000817082; NMedGen:C2675664|MedGen:CN517202|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457750664577506NC_000011.9:g.64577506C>TClinGen:CA009584,UniProtKB:O00255#VAR_005427,OMIM:613733.0013CN517202 not provided;
NM_001370259.2(MEN1):c.75C>T (p.Ala25=)4221MEN1Likely benign1399788808RCV001446786|RCV002396032; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775076457750764577507-
NM_001370259.2(MEN1):c.74C>T (p.Ala25Val)4221MEN1Uncertain significance1462138625RCV000707173; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457750864577508NC_000011.9:g.64577508G>A-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.71C>T (p.Ala24Val)4221MEN1Uncertain significance1328062930RCV000632091|RCV002377360; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457751164577511NC_000011.9:g.64577511G>AClinGen:CA381188076C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)4221MEN1Pathogenic/Likely pathogenic104894256RCV000018157|RCV000182402; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN51720211645775176457751711:g.64577517A>CClinGen:CA009546,UniProtKB:O00255#VAR_005426,OMIM:613733.0001C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.65T>C (p.Leu22Pro)4221MEN1Uncertain significance104894256RCV001055011; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775176457751711:g.64577517A>G-
NM_001370259.2(MEN1):c.64C>T (p.Leu22=)4221MEN1Likely benign1592660695RCV001477371; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775186457751811:g.64577518G>A-
NM_001370259.2(MEN1):c.63C>T (p.Arg21=)4221MEN1Likely benign1018289242RCV001025224|RCV001471473; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775196457751911:g.64577519G>A-
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)4221MEN1Conflicting interpretations of pathogenicity541476418RCV000396094|RCV000563926|RCV000864930|RCV001770241; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C366190011645775216457752111:g.64577521G>TClinGen:CA061326C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.61C>G (p.Arg21Gly)4221MEN1Uncertain significance541476418RCV000477155; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457752164577521NC_000011.9:g.64577521G>CClinGen:CA16613641C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.61C>T (p.Arg21Cys)4221MEN1Uncertain significance541476418RCV001302367; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775216457752164577521-
NM_001370259.2(MEN1):c.60G>C (p.Val20=)4221MEN1Likely benign776432516RCV000244620|RCV000470194|RCV002356342; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457752264577522NC_000011.9:g.64577522C>GClinGen:CA10587133C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.60G>A (p.Val20=)4221MEN1Likely benign-1RCV002715192; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457752264577522-
NM_001370259.2(MEN1):c.58G>T (p.Val20Leu)4221MEN1Uncertain significance1942022491RCV001207909; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775246457752411:g.64577524C>A-
NM_001370259.2(MEN1):c.57G>A (p.Val19=)4221MEN1Conflicting interpretations of pathogenicity759282395RCV001248632|RCV002357056; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775256457752511:g.64577525C>T-
NM_001370259.2(MEN1):c.54C>T (p.Asp18=)4221MEN1Likely benign1316973259RCV000532778; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457752864577528NC_000011.9:g.64577528G>AClinGen:CA475163211C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.52G>T (p.Asp18Tyr)4221MEN1Uncertain significance2136195598RCV001926002; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775306457753064577530-
NM_001370259.2(MEN1):c.51C>T (p.Asp17=)4221MEN1Likely benign2136195633RCV001473459; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775316457753164577531-
NM_001370259.2(MEN1):c.50A>G (p.Asp17Gly)4221MEN1Uncertain significance1157581823RCV001224295|RCV003380903; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775326457753211:g.64577532T>C-
NM_001370259.2(MEN1):c.49G>A (p.Asp17Asn)4221MEN1Uncertain significance1399824473RCV000632125|RCV001023389; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457753364577533NC_000011.9:g.64577533C>TClinGen:CA381188174C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.48C>T (p.Ile16=)4221MEN1Likely benign1060503797RCV001504106|RCV003278821; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457753464577534NC_000011.9:g.64577534G>AClinGen:CA16613487C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.44C>G (p.Ser15Cys)4221MEN1Uncertain significance1056705868RCV001022586|RCV003467666; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775386457753811:g.64577538G>C-
NM_001370259.2(MEN1):c.44C>T (p.Ser15Phe)4221MEN1Uncertain significance1056705868RCV001043539; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775386457753811:g.64577538G>A-
NM_001370259.2(MEN1):c.42C>G (p.Arg14=)4221MEN1Likely benign765446407RCV001416376; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775406457754064577540-
NM_001370259.2(MEN1):c.41_42delinsT (p.Arg14fs)4221MEN1Pathogenic-1RCV003033376; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457754064577541NC_000011.9:g.64577540_64577541delinsA-
NM_001370259.2(MEN1):c.40C>T (p.Arg14Cys)4221MEN1Uncertain significance1209178117RCV000797298|RCV002325521; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775426457754211:g.64577542G>A-
NM_001370259.2(MEN1):c.38T>G (p.Leu13Arg)4221MEN1Uncertain significance1262285748RCV000694774; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457754464577544NC_000011.9:g.64577544A>C-C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.38T>C (p.Leu13Pro)4221MEN1Uncertain significance1262285748RCV000803145; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775446457754411:g.64577544A>G-
NM_001370259.2(MEN1):c.36G>T (p.Pro12=)4221MEN1Likely benign775721366RCV000978248|RCV003307773; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775466457754611:g.64577546C>A-
NM_001370259.2(MEN1):c.36G>A (p.Pro12=)4221MEN1Likely benign775721366RCV001481253|RCV002350983; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775466457754664577546-
NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu)4221MEN1Likely pathogenic794728614RCV000538512; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457754764577547NC_000011.9:g.64577547G>AClinGen:CA009390,UniProtKB:O00255#VAR_005425C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.33C>G (p.Phe11Leu)4221MEN1Uncertain significance-1RCV002452020|RCV003099455; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775496457754964577549-
NM_001370259.2(MEN1):c.30G>T (p.Leu10=)4221MEN1Conflicting interpretations of pathogenicity371192390RCV000123385|RCV000491878|RCV000609004|RCV000757460|RCV001108653; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502116457755264577552NC_000011.9:g.64577552C>AClinGen:CA009365C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.29T>G (p.Leu10Arg)4221MEN1Uncertain significance1942026011RCV001227378|RCV003294087; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775536457755311:g.64577553A>C-
NM_001370259.2(MEN1):c.29T>C (p.Leu10Pro)4221MEN1Uncertain significance-1RCV003049771; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457755364577553NC_000011.9:g.64577553A>G-
NM_001370259.2(MEN1):c.28C>T (p.Leu10=)4221MEN1Likely benign2136196333RCV002216387; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775546457755464577554-
NM_001370259.2(MEN1):c.27G>A (p.Thr9=)4221MEN1Likely benign1190267704RCV001417881|RCV002438973; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775556457755564577555-
NM_001370259.2(MEN1):c.24G>A (p.Lys8=)4221MEN1Likely benign2136196440RCV002159841; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775586457755864577558-
NC_000011.9:g.(?_64577559)_(64578852_?)del4221MEN1Pathogenic-1RCV003123030; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457755964578852-
NM_001370259.2(MEN1):c.22A>G (p.Lys8Glu)4221MEN1Uncertain significance1942026565RCV001210328; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775606457756011:g.64577560T>C-
NM_001370259.2(MEN1):c.21G>A (p.Gln7=)4221MEN1Conflicting interpretations of pathogenicity1422628649RCV000864258|RCV001014748; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775616457756111:g.64577561C>T-
NM_001370259.2(MEN1):c.18C>T (p.Ala6=)4221MEN1Benign/Likely benign369348210RCV000195439|RCV000565891|RCV001705156; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900116457756464577564NC_000011.9:g.64577564G>AClinGen:CA060984C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.16_17del (p.Ala6fs)4221MEN1Pathogenic1114167523RCV000491928|RCV001229975; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457756564577566NC_000011.9:g.64577566_64577567delClinGen:CA645369576C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.17C>T (p.Ala6Val)4221MEN1Uncertain significance-1RCV002627781; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457756564577565NC_000011.9:g.64577565G>A-
NM_001370259.2(MEN1):c.16G>T (p.Ala6Ser)4221MEN1Uncertain significance966793401RCV000565141|RCV000632111; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775666457756611:g.64577566C>AClinGen:CA223917347C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.16G>A (p.Ala6Thr)4221MEN1Uncertain significance966793401RCV001012794|RCV001222652; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775666457756611:g.64577566C>T-
NM_001370259.2(MEN1):c.15C>A (p.Ala5=)4221MEN1Likely benign757821521RCV000473276|RCV001012305; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457756764577567NC_000011.9:g.64577567G>TClinGen:CA16613493C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.14C>G (p.Ala5Gly)4221MEN1Uncertain significance2136196896RCV002037474; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775686457756864577568-
NM_001370259.2(MEN1):c.11A>C (p.Lys4Thr)4221MEN1Uncertain significance1592661250RCV000793073|RCV003307425; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775716457757111:g.64577571T>G-
NM_001370259.2(MEN1):c.6dup (p.Leu3fs)4221MEN1Pathogenic2136197117RCV001383274; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775756457757664577575-
NM_001370259.2(MEN1):c.6del (p.Gly2_Leu3insTer)4221MEN1Pathogenic2136197117RCV001939358|RCV002361298; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775766457757664577575-
NM_001370259.2(MEN1):c.5G>A (p.Gly2Glu)4221MEN1Uncertain significance1592661296RCV000800118; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645775776457757711:g.64577577C>T-
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)4221MEN1Pathogenic/Likely pathogenic786204242RCV000168423|RCV001556584|RCV002372056; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457757964577579NC_000011.9:g.64577579C>TClinGen:CA009394C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.2T>A (p.Met1Lys)4221MEN1Pathogenic-1RCV003058328; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457758064577580NC_000011.9:g.64577580A>T-
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)4221MEN1Pathogenic/Likely pathogenic386134250RCV000030198|RCV000480514|RCV000491918|RCV000508430; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374116457758164577581NC_000011.9:g.64577581T>CClinGen:CA009318C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu)4221MEN1Pathogenic386134250RCV000491567|RCV000536890; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652116457758164577581NC_000011.9:g.64577581T>AClinGen:CA381188344C0027672 Hereditary cancer-predisposing syndrome;
NM_001370259.2(MEN1):c.1A>C (p.Met1Leu)4221MEN1Pathogenic386134250RCV001055158|RCV003380824; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775816457758111:g.64577581T>G-
NM_001370259.2(MEN1):c.-2C>T4221MEN1Uncertain significance653534RCV000206434|RCV002433902; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162116457758364577583NC_000011.9:g.64577583G>AClinGen:CA350468C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.-6G>A4221MEN1Conflicting interpretations of pathogenicity768088337RCV001334472|RCV001796447|RCV001820028|RCV002368113; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645775876457758764577587-
NM_001370259.2(MEN1):c.-20G>A4221MEN1Conflicting interpretations of pathogenicity386134244RCV000030190|RCV000480991|RCV002415435; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645776016457760111:g.64577601C>TClinGen:CA009331C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.-22C>A4221MEN1Conflicting interpretations of pathogenicity374749001RCV000225942|RCV000454537|RCV000679245|RCV002258863; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016211645776036457760311:g.64577603G>TClinGen:CA061014C0025267 131100 Multiple endocrine neoplasia, type 1;
NM_001370259.2(MEN1):c.-23-135G>A4221MEN1Uncertain significance587777949RCV000122413|RCV001294052; NMedGen:CN169374|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645777396457773911:g.64577739C>TClinGen:CA009341CN169374 not specified;
NM_001370259.2(MEN1):c.-24+84C>G4221MEN1Likely benign568093485RCV000988575; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645779026457790211:g.64577902G>C-
NM_000244.4(MEN1):c.-35A>T4221MEN1Benign679946RCV000314220|RCV000368660|RCV000417914; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN16937411645781136457811311:g.64578113T>AClinGen:CA10635266C0020502 Hyperparathyroidism;
NM_000244.4(MEN1):c.-35A>C4221MEN1Benign679946RCV000274018|RCV000310348|RCV000426448; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MedGen:CN16937411645781136457811311:g.64578113T>GClinGen:CA10639645C0020502 Hyperparathyroidism;
NM_000244.4(MEN1):c.-47A>G4221MEN1Likely benign1035192873RCV000988576; NMONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645781256457812511:g.64578125T>C-
NM_130799.2(MEN1):c.-94G>A4221MEN1Uncertain significance886048480RCV000270673|RCV000364998; NHuman Phenotype Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:65211645781726457817211:g.64578172C>TClinGen:CA10639646C0020502 Hyperparathyroidism;
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)5979RETPathogenic77939446RCV000014958|RCV000082049|RCV000173889|RCV000168107|RCV000424503|RCV000444552|RCV000431942|RCV000441078|RCV000496009|RCV000509116|RCV000562113|RCV003415703|RCV003460480; NMedGen:C4016286|MedGen:C3661900|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400, Orphanet:247698, Orphanet:653|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MO10436090704360907010:g.43609070G>AClinGen:CA007824,UniProtKB:P07949#VAR_006306,OMIM:164761.0029C1833921 155240 Familial medullary thyroid carcinoma;
NM_020975.6(RET):c.1888T>C (p.Cys630Arg)5979RETPathogenic377767404RCV000418588|RCV000429498|RCV000428845|RCV000440788|RCV000436253|RCV000654593; NMONDO:MONDO:0012552,MedGen:C1970712,OMIM:610755, Orphanet:276152|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300, Orphanet:247709, Orphanet:653|Human Phenotype Ontology:10436099364360993610:g.43609936T>CClinGen:CA008145C0238462 Medullary thyroid carcinoma;
NM_020975.6(RET):c.2410G>C (p.Val804Leu)5979RETPathogenic79658334RCV000021853|RCV000419916|RCV000426266|RCV000425568|RCV000436948|RCV000437130|RCV000479688|RCV002453279|RCV003226171; NMONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400, Orphanet:247698, Orphanet:653|MONDO:MONDO:0008082,MeSH:D018814,MedGen:10436149964361499610:g.43614996G>CUniProtKB:P07949#VAR_006336,ClinGen:CA008758C0238462 Medullary thyroid carcinoma;
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)5979RETPathogenic/Likely pathogenic377767429RCV000021873|RCV000426500|RCV000422001|RCV000433892|RCV000445104|RCV002514127|RCV003298037; NMONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300, Orphanet:247709, Orphanet:653|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:652|Human Phenotype Ontology:HP:0002865,MONDO:MONDO:0015277,MeSH:C536914,MedGen:C0238462,Orph104361556843615569NC_000010.10:g.43615568_43615569delinsTTClinGen:CA008962C0238462 Medullary thyroid carcinoma;
NM_000455.5(STK11):c.749C>T (p.Thr250Met)6794STK11Uncertain significance876661238RCV000219622|RCV001184310|RCV001808582|RCV003328099; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008280,MeSH:D010580,MedGen:C0031269,OMIM:175200, Orphanet:2869|MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100, Orphanet:6521912212261221226NC_000019.9:g.1221226C>TClinGen:CA10577596CN169374 not specified;
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