MEN1 (Menin) variants and mutations
MEN1 (also known as Menin) is a human protein-coding gene encoding a menin protein. Its menin scaffold coordinates transcriptional and chromatin-regulatory complexes that restrain endocrine-cell proliferation. Germline loss-of-function variants cause multiple endocrine neoplasia type 1 with high risk of parathyroid, pituitary, and pancreatic neuroendocrine tumors. This analysis covers 2,434 MEN1 variants and mutations. Of these, 59% have computational variant effect predictions. Disease context includes multiple endocrine neoplasia type 1, multiple endocrine neoplasia, and Angiofibroma. Example MEN1 variants include M1I, M1K, and M1L.
Variant analysis overview
- Gene: MEN1
- Protein: Menin
- UniProt accession: O00255
- Organism: Homo sapiens
- Variants analyzed: 2434
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 2,184 unspecified-consequence records; 138 synonymous variants; 86 missense variants; 9 in-frame deletions; 9 frameshift variants; 1 in-frame insertions; 1 splice-region variants; 1 protein altering variant; 5 substitution
- Prediction scores: 1,439 variants have prediction scores (59% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: multiple endocrine neoplasia type 1, multiple endocrine neoplasia, Angiofibroma, hyperparathyroidism, lung carcinoid tumor, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, parathyroid gland adenoma, endocrine gland neoplasm, primary hyperparathyroidism, familial isolated hyperparathyroidism, pituitary tumor.
Protein structure and variant hotspots
- Protein features: 3 post-translational modification sites.
- PTM context: 15 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable MEN1 variants
Examples include M1I, M1K, M1L, M1R, M1T, M1V, G2E, G2R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs786204242, ClinGen CA009394, ClinVar RCV000168423, ClinVar RCV001556584, MetaLR 0.97, MetaSVM 1.07, Pathogenic/Likely pathogenic, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome; n
- M1K (p.Met1Lys), rs2497292377, ClinGen CA381188343, ClinVar RCV003058328, ClinVar RCV005601985, Pathogenic, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- M1L (p.Met1Leu), rs386134250, ClinGen CA381188344, ClinVar RCV000491567, ClinVar RCV000536890, MetaLR 0.97, MetaSVM 1.09, Pathogenic, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- M1R (p.Met1Arg), rs2497292377, ClinGen CA381188341, ClinVar RCV002435652, Pathogenic, Hereditary cancer-predisposing syndrome
- M1T (p.Met1Thr), rs2497292377, ClinGen CA381188342, ClinVar RCV002435647, Pathogenic, Hereditary cancer-predisposing syndrome
- M1V (p.Met1Val), rs386134250, ClinGen CA009318, ClinVar RCV000030198, ClinVar RCV000480514, MetaLR 0.97, MetaSVM 1.09, Pathogenic/Likely pathogenic, not specified; Hereditary cancer-predisposing syndrome; Multiple endocrine neopl
- G2E (p.Gly2Glu), rs1592661296, ClinGen CA381188335, ClinVar RCV000800118, Ensembl rs1592661296, REVEL 0.90, CADD 28.00, Uncertain significance, Multiple endocrine neoplasia, type 1
- G2R (p.Gly2Arg), cosmic curated COSV10732, REVEL 0.88, CADD 29.30, Uncertain significance, Multiple endocrine neoplasia, type 1
- G2W (p.Gly2Trp), Ensembl rs2136197190, REVEL 0.89, CADD 31.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- L3P (p.Leu3Pro), Ensembl rs867123970, REVEL 0.83, CADD 32.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- L3V (p.Leu3Val), Ensembl rs2136197058, REVEL 0.55, CADD 24.00
- K4E (p.Lys4Glu), Ensembl rs2136197009
- K4N (p.Lys4Asn), cosmic curated COSV10813, REVEL 0.39, CADD 22.80
- K4T (p.Lys4Thr), rs1592661250, ClinGen CA381188323, ClinVar RCV000793073, ClinVar RCV003307425, REVEL 0.56, CADD 23.50, Uncertain significance, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- A5G (p.Ala5Gly), rs2136196896, ClinGen CA381188316, ClinVar RCV002037474, Ensembl rs2136196896, REVEL 0.45, CADD 23.30, Uncertain significance, Multiple endocrine neoplasia, type 1
- A5S (p.Ala5Ser), TOPMed rs1942028148, REVEL 0.44, CADD 22.10
- A5V (p.Ala5Val), rs2136196896, ClinVar RCV004574839, ClinVar RCV004943312, Ensembl rs2136196896, REVEL 0.47, CADD 23.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- A6P (p.Ala6Pro), rs966793401, ClinGen CA381188306, ClinVar RCV002414690, ClinVar RCV006470973, REVEL 0.66, CADD 24.50, Uncertain significance, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- A6S (p.Ala6Ser), rs966793401, ClinGen CA223917347, ClinVar RCV000565141, ClinVar RCV000632111, REVEL 0.49, CADD 21.20, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- A6T (p.Ala6Thr), rs966793401, ClinGen CA381188308, ClinVar RCV001012794, ClinVar RCV001222652, REVEL 0.47, CADD 22.60, Uncertain significance, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- A6V (p.Ala6Val), rs2136196726, ClinGen CA381188303, ClinVar RCV002627781, Ensembl rs2136196726, AlphaMissense 0.14, MetaLR 0.90, Uncertain significance, Multiple endocrine neoplasia, type 1
- Q7* (p.Gln7Ter), rs1942027113, ClinGen CA381188292, ClinVar RCV001269824, ClinVar RCV003517321, CADD 36.00, Pathogenic
- Q7H (p.Gln7His), TOPMed rs1422628649, gnomAD rs1422628649, REVEL 0.66, CADD 24.50, Likely benign
- Q7K (p.Gln7Lys), rs1942027113, ClinGen CA381188296, ClinVar RCV004015858, Uncertain significance, Multiple endocrine neoplasia, type 1
- Q7P (p.Gln7Pro), rs1942026974, ClinGen CA381188291, ClinVar RCV001269893, ClinVar RCV002418869, REVEL 0.79, CADD 24.90, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided
- K8* (p.Lys8Ter), cosmic curated COSV56342
- K8E (p.Lys8Glu), rs1942026565, ClinGen CA381188284, ClinVar RCV001210328, Ensembl rs1942026565, AlphaMissense 0.65, MetaLR 0.95, Uncertain significance, Multiple endocrine neoplasia, type 1
- K8N (p.Lys8Asn), Ensembl rs2136196440, Likely benign
- K8T (p.Lys8Thr), rs2497290778, ClinGen CA381188282, ClinVar RCV003288365, Uncertain significance, Hereditary cancer-predisposing syndrome
- T9A (p.Thr9Ala), TOPMed rs1489754478, gnomAD rs1489754478, REVEL 0.46, AlphaMissense 0.05
- T9M (p.Thr9Met), rs2497290618, ClinGen CA381188259, ClinVar RCV003518366, ClinVar RCV005675224, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- T9P (p.Thr9Pro), rs1489754478, ClinGen CA381188269, ClinVar RCV003288364, AlphaMissense 0.05, MetaLR 0.82, Uncertain significance, Hereditary cancer-predisposing syndrome
- L10P (p.Leu10Pro), rs1942026011, ClinGen CA381188251, ClinVar RCV003049771, AlphaMissense 0.22, MetaLR 0.96, Uncertain significance, Multiple endocrine neoplasia, type 1
- L10Q (p.Leu10Gln), rs1942026011, ClinGen CA381188253, ClinVar RCV004016001, REVEL 0.71, AlphaMissense 0.22, Uncertain significance, Multiple endocrine neoplasia, type 1
- L10R (p.Leu10Arg), rs1942026011, ClinGen CA381188249, ClinVar RCV001227378, ClinVar RCV003294087, AlphaMissense 0.22, MetaLR 0.96, Uncertain significance, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- F11L (p.Phe11Leu), rs2497290128, ClinGen CA381188229, ClinVar RCV002452020, ClinVar RCV003099455, REVEL 0.93, CADD 26.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- F11S (p.Phe11Ser), rs1114167535, ClinGen CA381188234, ClinVar RCV000491909, Ensembl rs1114167535, AlphaMissense 1.00, MetaLR 0.98, Likely pathogenic, Hereditary cancer-predisposing syndrome
- F11V (p.Phe11Val), rs2497290342, ClinGen CA381188240, ClinVar RCV003288363, Uncertain significance, Hereditary cancer-predisposing syndrome
- P12L (p.Pro12Leu), rs794728614, ClinGen CA009390, cosmic curated COSV10732, ClinVar RCV000538512, AlphaMissense 0.99, MetaLR 0.98, Pathogenic, Multiple endocrine neoplasia, type 1
- P12R (p.Pro12Arg), rs794728614, ClinGen CA381188219, ClinVar RCV002455181, ClinVar RCV003517379, AlphaMissense 0.99, MetaLR 0.98, Likely pathogenic, Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- P12S (p.Pro12Ser), Ensembl rs2136196207
- L13P (p.Leu13Pro), rs1262285748, ClinGen CA381188209, ClinVar RCV000803145, gnomAD rs1262285748, REVEL 0.95, AlphaMissense 0.99, Uncertain significance, Multiple endocrine neoplasia, type 1
- L13Q (p.Leu13Gln), cosmic curated COSV56341
- L13R (p.Leu13Arg), rs1262285748, ClinGen CA381188210, ClinVar RCV000694774, ClinVar RCV005367511, AlphaMissense 0.99, MetaLR 0.98, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- R14C (p.Arg14Cys), rs1209178117, ClinGen CA16622057, ClinVar RCV000797298, ClinVar RCV002325521, REVEL 0.83, CADD 32.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- R14H (p.Arg14His), Ensembl rs2136195966, REVEL 0.75, AlphaMissense 0.38, Uncertain significance, Multiple endocrine neoplasia, type 1
- R14L (p.Arg14Leu), rs2136195966, ClinGen CA381188201, ClinVar RCV004014923, Ensembl rs2136195966, REVEL 0.82, AlphaMissense 0.38, Uncertain significance, Multiple endocrine neoplasia, type 1
- R14P (p.Arg14Pro), rs2136195966, ClinGen CA381188202, ClinVar RCV003631946, AlphaMissense 0.38, MetaLR 0.96, Uncertain significance, Multiple endocrine neoplasia, type 1
- R14S (p.Arg14Ser), gnomAD rs1209178117, REVEL 0.80, CADD 29.30, Uncertain significance
- S15C (p.Ser15Cys), rs1056705868, ClinGen CA381188192, cosmic curated COSV56340, ClinVar RCV001022586, REVEL 0.62, CADD 28.20, Uncertain significance, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- S15F (p.Ser15Phe), rs1056705868, ClinGen CA223917312, ClinVar RCV001043539, ClinVar RCV004031322, REVEL 0.58, CADD 29.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- S15P (p.Ser15Pro), Ensembl rs2136195854
- I16F (p.Ile16Phe), rs2497289262, ClinGen CA381188183, ClinVar RCV003517779, Uncertain significance, Multiple endocrine neoplasia, type 1
- I16L (p.Ile16Leu), rs2497289262, ClinGen CA381188187, ClinVar RCV003297349, Uncertain significance, Hereditary cancer-predisposing syndrome
- I16T (p.Ile16Thr), rs1942023766, ClinGen CA381188180, ClinVar RCV002330738, ClinVar RCV003631245, AlphaMissense 0.43, MetaLR 0.93, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- I16V (p.Ile16Val), rs2497289262, ClinGen CA381188185, ClinVar RCV002335295, Uncertain significance, Hereditary cancer-predisposing syndrome
- D17G (p.Asp17Gly), rs1157581823, ClinGen CA381188167, ClinVar RCV001224295, ClinVar RCV003380903, REVEL 0.85, CADD 23.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1; n
- D17N (p.Asp17Asn), rs1399824473, ClinGen CA381188174, ClinVar RCV000632125, ClinVar RCV001023389, REVEL 0.63, CADD 24.50, Conflicting interpretations, not provided; Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposi
- D17V (p.Asp17Val), TOPMed rs1157581823, gnomAD rs1157581823, Uncertain significance
- D18E (p.Asp18Glu), rs1316973259, ClinGen CA381188146, ClinVar RCV003518518, REVEL 0.48, CADD 23.40, Uncertain significance, Multiple endocrine neoplasia, type 1
- D18N (p.Asp18Asn), rs2136195598, ClinGen CA381188155, ClinVar RCV002257046, Ensembl rs2136195598, AlphaMissense 0.46, MetaLR 0.88, Uncertain significance, Hereditary cancer-predisposing syndrome
- D18V (p.Asp18Val), rs2136195565, ClinGen CA381188147, ClinVar RCV004522726, Ensembl rs2136195565, AlphaMissense 0.91, MetaLR 0.94, Uncertain significance, Hereditary cancer-predisposing syndrome
- D18Y (p.Asp18Tyr), rs2136195598, ClinGen CA381188153, ClinVar RCV001926002, ClinVar RCV005674849, REVEL 0.74, AlphaMissense 0.46, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- V19L (p.Val19Leu), rs1277927362, ClinGen CA381188139, ClinVar RCV003632772, AlphaMissense 0.95, MetaLR 0.98, Uncertain significance, Multiple endocrine neoplasia, type 1
- V19M (p.Val19Met), rs1277927362, ClinGen CA381188141, ClinVar RCV002344889, ClinVar RCV005096822, REVEL 0.85, AlphaMissense 0.95, Uncertain significance, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- V20G (p.Val20Gly), rs2497288497, ClinGen CA381188120, ClinVar RCV003517751, Uncertain significance, Multiple endocrine neoplasia, type 1
- V20L (p.Val20Leu), rs1942022491, ClinGen CA381188124, ClinVar RCV001207909, Ensembl rs1942022491, AlphaMissense 0.52, MetaLR 0.97, Uncertain significance, Multiple endocrine neoplasia, type 1
- R21C (p.Arg21Cys), rs541476418, ClinGen CA381188114, ClinVar RCV001302367, ClinVar RCV004036236, REVEL 0.77, AlphaMissense 0.25, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- R21G (p.Arg21Gly), rs541476418, ClinGen CA16613641, ClinVar RCV000477155, 1000Genomes rs541476418, AlphaMissense 0.25, MetaLR 0.81, Uncertain significance, Multiple endocrine neoplasia, type 1
- R21H (p.Arg21His), cosmic curated COSV10965, ExAC rs760629445, gnomAD rs760629445, REVEL 0.59, CADD 25.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- R21L (p.Arg21Leu), rs760629445, ClinGen CA381188109, ClinVar RCV004522728, ExAC rs760629445, REVEL 0.64, CADD 25.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- R21S (p.Arg21Ser), rs541476418, ClinGen CA061326, ClinVar RCV000396094, ClinVar RCV000563926, REVEL 0.58, AlphaMissense 0.25, Conflicting interpretations, Hyperparathyroidism; Hereditary cancer-predisposing syndrome; not specified
- L22M (p.Leu22Met), rs1592660695, ClinGen CA381188106, ClinVar RCV003517090, Likely pathogenic, Multiple endocrine neoplasia, type 1
- L22P (p.Leu22Pro), rs104894256, ClinGen CA381188100, ClinVar RCV001055011, Ensembl rs104894256, AlphaMissense 1.00, MetaLR 0.98, Uncertain significance, Multiple endocrine neoplasia, type 1
- L22R (p.Leu22Arg), rs104894256, ClinGen CA009546, cosmic curated COSV56343, ClinVar RCV000018157, AlphaMissense 1.00, MetaLR 0.98, Pathogenic/Likely pathogenic, not provided; Multiple endocrine neoplasia, type 1
- F23C (p.Phe23Cys), cosmic curated COSV56342
- A24T (p.Ala24Thr), rs2497288002, ClinGen CA381188084, ClinVar RCV003176788, Uncertain significance, Hereditary cancer-predisposing syndrome
- A24V (p.Ala24Val), rs1328062930, ClinGen CA381188076, ClinVar RCV000632091, ClinVar RCV002377360, REVEL 0.50, CADD 25.00, Conflicting interpretations, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- A25S (p.Ala25Ser), Ensembl rs2136195080
- A25T (p.Ala25Thr), Ensembl rs2136195080, REVEL 0.50, CADD 22.20
- A25V (p.Ala25Val), rs1462138625, ClinGen CA381188064, ClinVar RCV000707173, ClinVar RCV004997217, REVEL 0.55, CADD 23.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1; n
- E26* (p.Glu26Ter), Ensembl rs28931612, AlphaMissense 0.99, MetaLR 0.97, Pathogenic, in parathyroid adenoma and MEN1
- E26K (p.Glu26Lys), rs28931612, ClinGen CA009584, cosmic curated COSV56343, ClinVar RCV000018169, AlphaMissense 0.99, MetaLR 0.97, Pathogenic/Likely pathogenic, not provided; Multiple endocrine neoplasia, type 1
- E26V (p.Glu26Val), Ensembl rs2136194938
- L27M (p.Leu27Met), rs1006536599, ClinGen CA381188048, ClinVar RCV004522732, ClinVar RCV006564889, REVEL 0.80, AlphaMissense 0.43, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- L27V (p.Leu27Val), rs1006536599, ClinGen CA381188046, ClinVar RCV001039845, TOPMed rs1006536599, AlphaMissense 0.43, MetaLR 0.98, Uncertain significance, Multiple endocrine neoplasia, type 1
- G28D (p.Gly28Asp), rs1466941669, ClinGen CA381188032, ClinVar RCV003171361, gnomAD rs1466941669, AlphaMissense 0.10, MetaLR 0.83, Uncertain significance, Hereditary cancer-predisposing syndrome
- G28N (p.Gly28Asn), rs2497287226, ClinGen CA2580084457, ClinVar RCV003011805, Uncertain significance, Multiple endocrine neoplasia, type 1
- G28R (p.Gly28Arg), rs953827589, ClinGen CA223917207, ClinVar RCV001327130, ClinVar RCV002431933, REVEL 0.47, CADD 22.50, Uncertain significance, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- G28S (p.Gly28Ser), rs953827589, ClinGen CA381188038, ClinVar RCV001054889, ClinVar RCV003160439, REVEL 0.44, CADD 21.30, Uncertain significance, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- R29* (p.Arg29Ter), rs794728615, ClinGen CA009645, cosmic curated COSV56347, ClinVar RCV000474533, AlphaMissense 0.13, MetaLR 0.87, Pathogenic
- R29G (p.Arg29Gly), rs794728615, ClinGen CA381188027, ClinVar RCV001303630, ClinVar RCV002447301, REVEL 0.45, AlphaMissense 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- R29Q (p.Arg29Gln), cosmic curated COSV56339
- E30* (p.Glu30Ter), cosmic curated COSV56343
- E30D (p.Glu30Asp), rs2497286635, ClinGen CA381188009, ClinVar RCV002378639, REVEL 0.39, CADD 17.50, Uncertain significance, Hereditary cancer-predisposing syndrome
- E30G (p.Glu30Gly), rs1942017685, ClinGen CA381188013, ClinVar RCV001294396, ClinVar RCV002375337, AlphaMissense 0.10, MetaLR 0.85, Uncertain significance, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- E30K (p.Glu30Lys), rs2136194576, ClinGen CA381188018, ClinVar RCV002041388, ClinVar RCV003299031, AlphaMissense 0.16, MetaLR 0.83, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- E31G (p.Glu31Gly), rs1060499977, ClinGen CA381188001, ClinVar RCV000632084, TOPMed rs1060499977, AlphaMissense 0.53, MetaLR 0.98, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- E31K (p.Glu31Lys), rs1942017514, ClinGen CA381188006, ClinVar RCV001238297, ClinVar RCV004034574, REVEL 0.85, CADD 28.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- E31V (p.Glu31Val), rs1060499977, ClinGen CA16613698, ClinVar RCV000458419, ClinVar RCV001019129, REVEL 0.93, AlphaMissense 0.53, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- P32L (p.Pro32Leu), rs2136194414, ClinGen CA381187989, ClinVar RCV001930980, ClinVar RCV002386734, AlphaMissense 0.98, MetaLR 0.98, Uncertain significance, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- P32R (p.Pro32Arg), cosmic curated COSV56340, Pathogenic/Likely pathogenic, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- P32S (p.Pro32Ser), rs773089218, ClinGen CA061878, ClinVar RCV000463945, ClinVar RCV000562829, REVEL 0.85, CADD 30.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- D33E (p.Asp33Glu), rs1193762201, ClinGen CA381187976, ClinVar RCV003023285, gnomAD rs1193762201, AlphaMissense 0.92, MetaLR 0.98, Likely pathogenic, Multiple endocrine neoplasia, type 1
- D33G (p.Asp33Gly), Ensembl rs2136194293
- D33H (p.Asp33His), rs2136194342, ClinGen CA381187987, ClinVar RCV003517588, Ensembl rs2136194342, AlphaMissense 0.97, MetaLR 0.98, Likely pathogenic, Multiple endocrine neoplasia, type 1
- D33N (p.Asp33Asn), Ensembl rs2136194342, Likely pathogenic
- D33V (p.Asp33Val), Ensembl rs2136194293
- D33Y (p.Asp33Tyr), rs2136194342, ClinGen CA381187986, ClinVar RCV003518531, ClinVar RCV004943087, AlphaMissense 0.97, MetaLR 0.98, Likely pathogenic, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- L34M (p.Leu34Met), rs771554497, ClinGen CA10582947, ClinVar RCV000229989, ClinVar RCV000492008, REVEL 0.77, CADD 26.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- L34P (p.Leu34Pro), Ensembl rs2136194166, REVEL 0.97, CADD 32.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- L34Q (p.Leu34Gln), Ensembl rs2136194166, REVEL 0.97, CADD 32.00
- L34V (p.Leu34Val), ExAC rs771554497, gnomAD rs771554497, REVEL 0.84, CADD 25.90, Uncertain significance, Hereditary cancer-predisposing syndrome
- V35E (p.Val35Glu), Ensembl rs2136194051
- V35L (p.Val35Leu), rs2136194077, Ensembl rs2136194077, ClinGen CA381187963, ClinVar RCV003047426, REVEL 0.52, CADD 22.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- V35M (p.Val35Met), cosmic curated COSV10019, Ensembl rs2136194077, Uncertain significance
- L36F (p.Leu36Phe), cosmic curated COSV56343, Ensembl rs2136193921
- L36H (p.Leu36His), cosmic curated COSV56343, REVEL 0.97, CADD 32.00
- L36I (p.Leu36Ile), Ensembl rs2136193921
- L36V (p.Leu36Val), Ensembl rs2136193921
- L37F (p.Leu37Phe), rs2136193833, ClinGen CA381187939, ClinVar RCV002430774, ClinVar RCV006559373, REVEL 0.92, CADD 31.00, Uncertain significance, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- L37I (p.Leu37Ile), Ensembl rs2136193833, Uncertain significance
- S38F (p.Ser38Phe), rs794728616, ClinGen CA009043, cosmic curated COSV56341, ClinVar RCV000491203, AlphaMissense 1.00, MetaLR 0.98, Pathogenic/Likely pathogenic, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- S38P (p.Ser38Pro), rs1341908127, ClinGen CA381187931, ClinVar RCV002320661, gnomAD rs1341908127, AlphaMissense 1.00, MetaLR 0.98, Likely pathogenic, Hereditary cancer-predisposing syndrome
- S38Y (p.Ser38Tyr), rs794728616, ClinGen CA381187927, ClinVar RCV003632029, AlphaMissense 1.00, MetaLR 0.98, Likely pathogenic, Multiple endocrine neoplasia, type 1
- L39* (p.Leu39Ter), rs1565652770, ClinGen CA381187918, ClinVar RCV003485895, Ensembl rs1565652770, Pathogenic, in MEN1
- L39M (p.Leu39Met), TOPMed rs863224438, gnomAD rs863224438, Likely benign, in MEN1
- L39W (p.Leu39Trp), UniProt VAR 005428, Pathogenic, in MEN1
- V40A (p.Val40Ala), ExAC rs747617261, gnomAD rs747617261, REVEL 0.88, CADD 28.00
- V40E (p.Val40Glu), ExAC rs747617261, gnomAD rs747617261
- V40G (p.Val40Gly), ExAC rs747617261, gnomAD rs747617261
- V40L (p.Val40Leu), Ensembl rs2136193531, Uncertain significance, Hereditary cancer-predisposing syndrome
- V40M (p.Val40Met), cosmic curated COSV56343, Ensembl rs2136193531, REVEL 0.83, CADD 26.90
- L41P (p.Leu41Pro), Ensembl rs2136193296
- L41Q (p.Leu41Gln), Ensembl rs2136193296
- L41R (p.Leu41Arg), Ensembl rs2136193296
- L41V (p.Leu41Val), TOPMed rs1441672096, gnomAD rs1441672096, Likely benign
- G42A (p.Gly42Ala), rs1565652689, ClinGen CA381187883, ClinVar RCV000802906, Ensembl rs1565652689, AlphaMissense 0.99, MetaLR 0.99, Pathogenic, Multiple endocrine neoplasia, type 1
- G42C (p.Gly42Cys), Ensembl rs1942013583, Likely pathogenic, in MEN1
- G42D (p.Gly42Asp), cosmic curated COSV56345, Ensembl rs1565652689, UniProt VAR 005429, Pathogenic, in MEN1
- G42R (p.Gly42Arg), rs1942013583, ClinGen CA381187888, ClinVar RCV002400806, Ensembl rs1942013583, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Hereditary cancer-predisposing syndrome
- G42S (p.Gly42Ser), rs1942013583, ClinGen CA381187890, cosmic curated COSV56343, ClinVar RCV001302220, AlphaMissense 1.00, MetaLR 0.99, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- G42V (p.Gly42Val), rs1565652689, ClinGen CA381187882, ClinVar RCV000756338, Ensembl rs1565652689, REVEL 0.94, AlphaMissense 0.99, Likely pathogenic, not provided
- F43L (p.Phe43Leu), Ensembl rs2136193061, Uncertain significance, Multiple endocrine neoplasia, type 1
- F43S (p.Phe43Ser), Ensembl rs2136193034
- V44E (p.Val44Glu), Ensembl rs2136192898
- V44G (p.Val44Gly), Ensembl rs2136192898
- V44L (p.Val44Leu), Ensembl rs2136192931, Uncertain significance
- V44M (p.Val44Met), rs2136192931, ClinGen CA381187869, ClinVar RCV002385412, ClinVar RCV003631258, REVEL 0.81, CADD 27.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- E45D (p.Glu45Asp), rs778670301, cosmic curated COSV56345, ExAC rs778670301, TOPMed rs778670301, REVEL 0.90, CADD 24.80, Pathogenic/Likely pathogenic, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- E45G (p.Glu45Gly), rs1592660101, ClinGen CA381187854, ClinVar RCV000796726, ClinVar RCV004944156, AlphaMissense 0.99, MetaLR 0.98, Pathogenic, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- E45K (p.Glu45Lys), rs1114167491, ClinGen CA381187857, ClinVar RCV000491351, ClinVar RCV000696687, AlphaMissense 1.00, MetaLR 0.98, Pathogenic/Likely pathogenic, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- E45Q (p.Glu45Gln), rs1114167491, ClinGen CA381187859, ClinVar RCV003058327, ClinVar RCV005675106, AlphaMissense 1.00, MetaLR 0.98, Pathogenic, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- E45V (p.Glu45Val), cosmic curated COSV56342, Likely pathogenic, Multiple endocrine neoplasia, type 1
- H46D (p.His46Asp), Ensembl rs2136192749, Uncertain significance
- H46L (p.His46Leu), rs2136192730, ClinGen CA381187840, ClinVar RCV003233050, AlphaMissense 1.00, MetaLR 0.96, Likely pathogenic, Multiple endocrine neoplasia, type 1
- H46N (p.His46Asn), Ensembl rs2136192749, Uncertain significance
- H46P (p.His46Pro), rs2136192730, ClinGen CA381187837, cosmic curated COSV56343, ClinVar RCV001999316, AlphaMissense 1.00, MetaLR 0.96, Likely pathogenic, Multiple endocrine neoplasia, type 1
- H46Q (p.His46Gln), Ensembl rs2136192705
- H46R (p.His46Arg), rs2136192730, ClinGen CA381187839, ClinVar RCV003632740, AlphaMissense 1.00, MetaLR 0.96, Likely pathogenic, Multiple endocrine neoplasia, type 1
- H46Y (p.His46Tyr), rs2136192749, ClinGen CA381187842, ClinVar RCV003296299, ClinVar RCV006612975, AlphaMissense 0.91, MetaLR 0.87, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- F47C (p.Phe47Cys), Ensembl rs2136192635, Uncertain significance
- F47I (p.Phe47Ile), cosmic curated COSV56345
- F47L (p.Phe47Leu), Ensembl rs2136192673
- F47Y (p.Phe47Tyr), rs2136192635, ClinGen CA381187826, ClinVar RCV002389476, Ensembl rs2136192635, AlphaMissense 0.73, MetaLR 0.97, Uncertain significance, Hereditary cancer-predisposing syndrome
- L48P (p.Leu48Pro), rs1592660057, ClinGen CA381187811, ClinVar RCV001011589, ClinVar RCV001860673, AlphaMissense 0.99, MetaLR 0.98, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- L48Q (p.Leu48Gln), Ensembl rs1592660057, Likely pathogenic
- L48R (p.Leu48Arg), Ensembl rs1592660057, Likely pathogenic
- A49P (p.Ala49Pro), Ensembl rs1942011819, Likely pathogenic, Hereditary cancer-predisposing syndrome
- A49S (p.Ala49Ser), rs1942011819, ClinGen CA381187806, ClinVar RCV002627787, Ensembl rs1942011819, AlphaMissense 0.54, MetaLR 0.95, Uncertain significance, Multiple endocrine neoplasia, type 1
- A49T (p.Ala49Thr), rs1942011819, ClinGen CA381187810, ClinVar RCV001205296, ClinVar RCV005367758, AlphaMissense 0.54, MetaLR 0.95, Uncertain significance, Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- A49V (p.Ala49Val), rs1555166674, ClinGen CA381187800, ClinVar RCV000632133, ClinVar RCV003380647, REVEL 0.84, CADD 29.20, Uncertain significance, Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- V50D (p.Val50Asp), Ensembl rs2136192240, Uncertain significance, Hereditary cancer-predisposing syndrome
- V50F (p.Val50Phe), Ensembl rs1942011354, REVEL 0.83, AlphaMissense 0.37, Uncertain significance
- V50I (p.Val50Ile), rs1942011354, ClinGen CA381187798, ClinVar RCV001062618, Ensembl rs1942011354, REVEL 0.60, AlphaMissense 0.37, Uncertain significance, Multiple endocrine neoplasia, type 1
- V50L (p.Val50Leu), rs1942011354, ClinGen CA381187796, ClinVar RCV001898471, Ensembl rs1942011354, AlphaMissense 0.37, MetaLR 0.93, Uncertain significance, Multiple endocrine neoplasia, type 1
- N51D (p.Asn51Asp), Ensembl rs902475323, Uncertain significance
- N51H (p.Asn51His), rs902475323, ClinGen CA223917175, ClinVar RCV004522689, Ensembl rs902475323, AlphaMissense 0.98, MetaLR 0.96, Uncertain significance, Hereditary cancer-predisposing syndrome
- N51I (p.Asn51Ile), cosmic curated COSV56340, Ensembl rs1942010838, Uncertain significance
- N51K (p.Asn51Lys), rs1555166669, ClinGen CA381187776, ClinVar RCV002837678, Ensembl rs1555166669, REVEL 0.48, CADD 21.70, Uncertain significance, Multiple endocrine neoplasia, type 1
Public MEN1 analysis runs
- MEN1 analysis run — MEN1 (2,434 variants) — completed 2026-08-18