Sugi Variant

Sugi Variant/MEN1

MEN1 — 2717 ClinVar variants

All ClinVar germline MEN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 901 flagged for review →

379 Pathogenic · 66 Pathogenic/Likely pathogenic · 140 Likely pathogenic · 230 Conflicting · 44 Benign · 160 Benign/Likely benign · 516 Likely benign · 1182 Uncertain significance

Full MEN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 901

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 78

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 3

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 554

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 554

Predictors split 263

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 263

All MEN1 variants

Pathogenic 379

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1049+1G>A Multiple submitters multiple endocrine neoplasia type 1
  • c.1049+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.1350+1_1350+11del Multiple submitters hereditary neoplastic syndrome
  • c.1350+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1351-2A>G Multiple submitters multiple endocrine neoplasia type 1
  • c.1356_1367del12 Multiple submitters hereditary neoplastic syndrome
  • c.446-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.446-2A>C Multiple submitters multiple endocrine neoplasia type 1
  • c.446-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.654+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.654+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.783+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.783+1G>C Multiple submitters multiple endocrine neoplasia type 1
  • c.912+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.912+1G>C Multiple submitters hereditary neoplastic syndrome
  • p.Ala160Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala164Asp Multiple submitters hereditary neoplastic syndrome
  • p.Ala176fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala242fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala337Asp Multiple submitters hereditary neoplastic syndrome
  • p.Ala380fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala467fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala6fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg108fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg108Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg115fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Arg14fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Arg275fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Arg275Lys Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg29Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg415Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg460Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg479fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Arg516fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg98fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg98Ter Multiple submitters hereditary neoplastic syndrome
  • p.Asn374fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Asp123fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp136fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Asp248fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp315fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Asp370fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp406fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp418Asn Multiple submitters hereditary neoplastic syndrome
  • p.Asp418fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Asp418Tyr Multiple submitters hereditary neoplastic syndrome
  • p.Asp70fs Multiple submitters hereditary neoplastic syndrome
  • p.Cys409fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln141Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln166Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln209fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln258Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln260Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln261Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln339Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln349Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln393Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln395Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln398Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln400Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln405Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln453Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln554Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln7Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln96Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu116Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu336fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu366_Val367insTer Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu366Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu392Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu45Gln Multiple submitters hereditary neoplastic syndrome
  • p.Glu45Gly Multiple submitters hereditary neoplastic syndrome
  • p.Glu463Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu477Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu486Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu556Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu563Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly111fs Multiple submitters hereditary neoplastic syndrome
  • p.Gly2_Leu3insTer Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly202fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly401fs Multiple submitters hereditary neoplastic syndrome
  • p.Gly531fs Multiple submitters hereditary neoplastic syndrome
  • p.His139Asp Multiple submitters hereditary neoplastic syndrome
  • p.His139fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Ile85fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu103fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu117fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu129fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu266fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu338fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu36fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu504fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu75fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys120del Multiple submitters hereditary neoplastic syndrome
  • p.Lys233Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys517Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys557fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Met1Lys Multiple submitters hereditary neoplastic syndrome
  • p.Phe134fs Multiple submitters hereditary neoplastic syndrome
  • p.Phe144fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro188fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro407fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro428fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro493fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro519fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro71fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro79fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser114fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser308Ter Multiple submitters hereditary neoplastic syndrome
  • p.Ser512fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser572Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Thr148fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr210fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr525fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr56fs Multiple submitters hereditary neoplastic syndrome
  • p.Trp126fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Trp183Ter Multiple submitters hereditary neoplastic syndrome
  • p.Trp198Ter Multiple submitters hereditary neoplastic syndrome
  • p.Trp220Ter Multiple submitters hereditary neoplastic syndrome
  • p.Trp265Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Trp341Ter Multiple submitters hereditary neoplastic syndrome
  • p.Trp423Ter Multiple submitters hereditary neoplastic syndrome
  • p.Trp436Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Trp471Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Tyr133Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Tyr227Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Tyr276Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr313Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr321fs Multiple submitters hereditary neoplastic syndrome
  • p.Tyr323Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr327Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Tyr351Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr353Ter Multiple submitters hereditary neoplastic syndrome
  • p.Val112fs Multiple submitters
  • p.Val80fs Multiple submitters multiple endocrine neoplasia type 1
  • c.1049+2_1049+3del Single submitter multiple endocrine neoplasia type 1
  • c.1049+2T>G Single submitter hereditary neoplastic syndrome
  • c.1050-2A>G Single submitter multiple endocrine neoplasia type 1
  • c.1050-2A>T Single submitter multiple endocrine neoplasia type 1
  • c.1277_1350+28del Single submitter multiple endocrine neoplasia type 1
  • c.1350+1G>C Single submitter multiple endocrine neoplasia type 1
  • c.1350+1G>T Single submitter multiple endocrine neoplasia type 1
  • c.1350+2T>C Single submitter multiple endocrine neoplasia type 1
  • c.1350+2T>G Single submitter multiple endocrine neoplasia type 1
  • c.1351-1G>A Single submitter multiple endocrine neoplasia type 1
  • c.1351-1G>C Single submitter multiple endocrine neoplasia type 1
  • c.1351-1G>T Single submitter multiple endocrine neoplasia type 1
  • c.1351-2_*132del Single submitter multiple endocrine neoplasia type 1
  • c.1351-2A>T Single submitter multiple endocrine neoplasia type 1
  • c.1351-9C>G Single submitter multiple endocrine neoplasia type 1
  • c.1430_1431insALU Single submitter hereditary neoplastic syndrome
  • c.446-1G>C Single submitter multiple endocrine neoplasia type 1
  • c.446-3C>G Single submitter multiple endocrine neoplasia type 1
  • c.623_1050-143del Single submitter multiple endocrine neoplasia type 1
  • c.654+1del Single submitter gastrointestinal stromal tumor
  • c.655-1G>A Single submitter multiple endocrine neoplasia type 1
  • c.655-2A>C Single submitter
  • c.655-2A>G Single submitter multiple endocrine neoplasia type 1
  • c.783+1G>T Single submitter hereditary neoplastic syndrome
  • c.784-2A>G Single submitter hereditary neoplastic syndrome
  • c.824+1G>A Single submitter hereditary neoplastic syndrome
  • c.825-1_828delinsTACCTAGAGGTT Single submitter hereditary neoplastic syndrome
  • c.912+2T>C Single submitter
  • c.912+2T>G Single submitter multiple endocrine neoplasia type 1
  • c.913-1G>C Single submitter multiple endocrine neoplasia type 1
  • c.940_1050-227del Single submitter multiple endocrine neoplasia type 1
  • p.? Single submitter hereditary neoplastic syndrome
  • p.257LQ[3] Single submitter multiple endocrine neoplasia type 1
  • p.Ala100fs Single submitter hereditary neoplastic syndrome
  • p.Ala138fs Single submitter hereditary neoplastic syndrome
  • p.Ala160fs Single submitter multiple endocrine neoplasia type 1
  • p.Ala164fs Single submitter
  • p.Ala194fs Single submitter multiple endocrine neoplasia type 1
  • p.Ala216fs Single submitter multiple endocrine neoplasia type 1
  • p.Ala237fs Single submitter hereditary neoplastic syndrome
  • p.Ala279_Leu280insTer Single submitter multiple endocrine neoplasia type 1
  • p.Ala284Glu Single submitter multiple endocrine neoplasia type 1
  • p.Ala340fs Single submitter multiple endocrine neoplasia type 1
  • p.Ala368Asp Single submitter multiple endocrine neoplasia type 1
  • p.Ala403fs Single submitter multiple endocrine neoplasia type 1
  • p.Ala464fs Single submitter hereditary neoplastic syndrome
  • p.Ala465fs Single submitter multiple endocrine neoplasia type 1
  • p.Ala49fs Single submitter multiple endocrine neoplasia type 1
  • p.Ala510fs Single submitter hereditary neoplastic syndrome
  • p.Ala68fs Single submitter multiple endocrine neoplasia type 1
  • p.Ala81fs Single submitter multiple endocrine neoplasia type 1
  • p.Ala87fs Single submitter multiple endocrine neoplasia type 1
  • p.Ala88fs Single submitter hereditary neoplastic syndrome
  • p.Ala91fs Single submitter multiple endocrine neoplasia type 1
  • p.Arg207fs Single submitter multiple endocrine neoplasia type 1
  • p.Arg229fs Single submitter multiple endocrine neoplasia type 1
  • p.Arg275Met Single submitter
  • p.Arg295fs Single submitter multiple endocrine neoplasia type 1
  • p.Arg335fs Single submitter hereditary neoplastic syndrome
  • p.Arg446fs Single submitter
  • p.Arg460delinsThrTer Single submitter
  • p.Arg480fs Single submitter multiple endocrine neoplasia type 1
  • p.Asn189fs Single submitter multiple endocrine neoplasia type 1
  • p.Asn212fs Single submitter multiple endocrine neoplasia type 1
  • p.Asn352fs Single submitter hereditary neoplastic syndrome
  • p.Asn51fs Single submitter multiple endocrine neoplasia type 1
  • p.Asp153fs Single submitter hereditary neoplastic syndrome
  • p.Asp269fs Single submitter multiple endocrine neoplasia type 1
  • p.Asp406_Pro407insTer Single submitter multiple endocrine neoplasia type 1
  • p.Cys165fs Single submitter multiple endocrine neoplasia type 1
  • p.Cys165Ter Single submitter multiple endocrine neoplasia type 1
  • p.Cys230fs Single submitter hereditary neoplastic syndrome
  • p.Cys230Ter Single submitter hereditary neoplastic syndrome
  • p.Cys354fs Single submitter multiple endocrine neoplasia type 1
  • p.Cys409Ter Single submitter multiple endocrine neoplasia type 1
  • p.Gln141Leu Single submitter multiple endocrine neoplasia type 1
  • p.Gln192Ter Single submitter multiple endocrine neoplasia type 1
  • p.Gln209Ter Single submitter multiple endocrine neoplasia type 1
  • p.Gln339fs Single submitter hereditary neoplastic syndrome
  • p.Gln349fs Single submitter multiple endocrine neoplasia type 1
  • p.Gln450Ter Single submitter hereditary neoplastic syndrome
  • p.Gln453fs Single submitter multiple endocrine neoplasia type 1
  • p.Gln508Ter Single submitter multiple endocrine neoplasia type 1
  • p.Gln536Ter Single submitter
  • p.Gln554fs Single submitter multiple endocrine neoplasia type 1
  • p.Gln64fs Single submitter hereditary neoplastic syndrome
  • p.Gln64Ter Single submitter multiple endocrine neoplasia type 1
  • p.Gln96fs Single submitter multiple endocrine neoplasia type 1
  • p.Glu179_Asp180delinsAspTyr Single submitter multiple endocrine neoplasia type 1
  • p.Glu179Ter Single submitter multiple endocrine neoplasia type 1
  • p.Glu195fs Single submitter multiple endocrine neoplasia type 1
  • p.Glu287Ter Single submitter multiple endocrine neoplasia type 1
  • p.Glu288Ter Single submitter multiple endocrine neoplasia type 1
  • p.Glu30fs Single submitter hereditary neoplastic syndrome
  • p.Glu336Ter Single submitter multiple endocrine neoplasia type 1
  • p.Glu358fs Single submitter hereditary neoplastic syndrome
  • p.Glu378Ter Single submitter hereditary neoplastic syndrome
  • p.Glu384Ter Single submitter multiple endocrine neoplasia type 1
  • p.Glu387fs Single submitter hereditary neoplastic syndrome
  • p.Glu388Ter Single submitter hereditary neoplastic syndrome
  • p.Glu408Ter Single submitter multiple endocrine neoplasia type 1
  • p.Glu424Ter Single submitter hereditary neoplastic syndrome
  • p.Glu425Ter Single submitter
  • p.Glu461fs Single submitter hereditary neoplastic syndrome
  • p.Glu469fs Single submitter multiple endocrine neoplasia type 1
  • p.Glu473fs Single submitter multiple endocrine neoplasia type 1
  • p.Glu474fs Single submitter multiple endocrine neoplasia type 1
  • p.Glu477fs Single submitter hereditary neoplastic syndrome
  • p.Glu491fs Single submitter multiple endocrine neoplasia type 1
  • p.Glu547fs Single submitter hereditary neoplastic syndrome
  • p.Gly110fs Single submitter hereditary neoplastic syndrome
  • p.Gly169fs Single submitter multiple endocrine neoplasia type 1
  • p.Gly214fs Single submitter multiple endocrine neoplasia type 1
  • p.Gly294fs Single submitter multiple endocrine neoplasia type 1
  • p.Gly386fs Single submitter hereditary neoplastic syndrome
  • p.Gly42Ala Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Gly445fs Single submitter multiple endocrine neoplasia type 1
  • p.Gly449fs Single submitter multiple endocrine neoplasia type 1
  • p.Gly472fs Single submitter multiple endocrine neoplasia type 1
  • p.Gly482fs Single submitter hereditary neoplastic syndrome
  • p.Gly503fs Single submitter hereditary neoplastic syndrome
  • p.Gly507fs Single submitter multiple endocrine neoplasia type 1
  • p.Gly548_Met558delinsPro Single submitter multiple endocrine neoplasia type 1
  • p.Gly548fs Single submitter hereditary neoplastic syndrome
  • p.Gly73fs Single submitter multiple endocrine neoplasia type 1
  • p.Gly74fs Single submitter
  • p.His139Tyr Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.His317fs Single submitter
  • p.His412fs Single submitter multiple endocrine neoplasia type 1
  • p.Ile125_Trp126insTer Single submitter hereditary neoplastic syndrome
  • p.Ile125fs Single submitter multiple endocrine neoplasia type 1
  • p.Ile140fs Single submitter multiple endocrine neoplasia type 1
  • p.Ile147fs Single submitter hereditary neoplastic syndrome
  • p.Ile243fs Single submitter hereditary neoplastic syndrome
  • p.Ile247fs Single submitter multiple endocrine neoplasia type 1
  • p.Ile360_Glu363del Single submitter multiple endocrine neoplasia type 1
  • p.Ile54fs Single submitter multiple endocrine neoplasia type 1
  • p.Leu105fs Single submitter multiple endocrine neoplasia type 1
  • p.Leu13fs Single submitter multiple endocrine neoplasia type 1
  • p.Leu152Ter Single submitter
  • p.Leu170fs Single submitter multiple endocrine neoplasia type 1
  • p.Leu177fs Single submitter hereditary neoplastic syndrome
  • p.Leu249fs Single submitter multiple endocrine neoplasia type 1
  • p.Leu27fs Single submitter
  • p.Leu280Ter Single submitter multiple endocrine neoplasia type 1
  • p.Leu299fs Single submitter multiple endocrine neoplasia type 1
  • p.Leu324_His328del Single submitter multiple endocrine neoplasia type 1
  • p.Leu338Arg Single submitter hereditary neoplastic syndrome
  • p.Leu382fs Single submitter multiple endocrine neoplasia type 1
  • p.Leu39fs Single submitter multiple endocrine neoplasia type 1
  • p.Leu3fs Single submitter multiple endocrine neoplasia type 1
  • p.Leu48_Ala49insPhePhePhePhePhePheXaaXaaXaaXaaTer Single submitter multiple endocrine neoplasia type 1
  • p.Leu48fs Single submitter multiple endocrine neoplasia type 1
  • p.Leu551fs Single submitter
  • p.Leu83fs Single submitter multiple endocrine neoplasia type 1
  • p.Leu89fs Single submitter hereditary neoplastic syndrome
  • p.Lys120Ter Single submitter multiple endocrine neoplasia type 1
  • p.Lys151fs Single submitter multiple endocrine neoplasia type 1
  • p.Lys201Ter Single submitter
  • p.Lys304fs Single submitter hereditary neoplastic syndrome
  • p.Lys422Ter Single submitter multiple endocrine neoplasia type 1
  • p.Lys488fs Single submitter hereditary neoplastic syndrome
  • p.Lys488Ter Single submitter multiple endocrine neoplasia type 1
  • p.Lys496fs Single submitter
  • p.Lys559fs Single submitter multiple endocrine neoplasia type 1

Pathogenic/Likely pathogenic 66

  • c.1049+2T>C Multiple submitters multiple endocrine neoplasia type 1
  • c.1351-2A>C Multiple submitters multiple endocrine neoplasia type 1
  • c.1351-3_1359del Multiple submitters multiple endocrine neoplasia type 1
  • c.655-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.784-1G>C Multiple submitters multiple endocrine neoplasia type 1
  • c.784-9G>A Multiple submitters hereditary neoplastic syndrome
  • c.824+1G>T Multiple submitters multiple endocrine neoplasia type 1
  • c.913-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.913-2A>G Multiple submitters hereditary neoplastic syndrome
  • p.Ala176Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala242Val Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala535fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala539fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg527Ter Multiple submitters Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
  • p.Arg92fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Asn57fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Asp153Val Multiple submitters multiple endocrine neoplasia type 1
  • p.Asp172Tyr Multiple submitters hereditary neoplastic syndrome
  • p.Asp418His Multiple submitters hereditary neoplastic syndrome
  • p.Cys165Tyr Multiple submitters multiple endocrine neoplasia type 1
  • p.Cys241Tyr Multiple submitters hereditary neoplastic syndrome
  • p.Cys421Tyr Multiple submitters hereditary neoplastic syndrome
  • p.Gln442Ter Multiple submitters Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
  • p.Glu179Lys Multiple submitters hereditary neoplastic syndrome
  • p.Glu26Lys Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu363del Multiple submitters hereditary neoplastic syndrome
  • p.Glu392fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu425del Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu45Asp Multiple submitters hereditary neoplastic syndrome
  • p.Glu45Lys Multiple submitters hereditary neoplastic syndrome
  • p.Glu473Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly156Arg Multiple submitters hereditary neoplastic syndrome
  • p.Gly156Asp Multiple submitters hereditary neoplastic syndrome
  • p.Gly156Cys Multiple submitters hereditary neoplastic syndrome
  • p.His139Arg Multiple submitters hereditary neoplastic syndrome
  • p.His181Arg Multiple submitters multiple endocrine neoplasia type 1
  • p.His317Tyr Multiple submitters hereditary neoplastic syndrome
  • p.Leu168Pro Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu223Pro Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu22Arg Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu256Phe Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu264Pro Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu324fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu37_Leu41del Multiple submitters hereditary neoplastic syndrome
  • p.Leu579Pro Multiple submitters multiple endocrine neoplasia type 1
  • p.Lys224Ter Multiple submitters
  • p.Lys262fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Lys422fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Lys517fs Multiple submitters hereditary neoplastic syndrome
  • p.Met1Ile Multiple submitters multiple endocrine neoplasia type 1
  • p.Met1Leu Multiple submitters hereditary neoplastic syndrome
  • p.Met1Val Multiple submitters hereditary neoplastic syndrome
  • p.Phe416fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro277His Multiple submitters hereditary neoplastic syndrome
  • p.Pro320Leu Multiple submitters hereditary neoplastic syndrome
  • p.Pro32Arg Multiple submitters hereditary neoplastic syndrome
  • p.Ser38Phe Multiple submitters hereditary neoplastic syndrome
  • p.Ser443Pro Multiple submitters multiple endocrine neoplasia type 1
  • p.Ser555Asn Multiple submitters hereditary neoplastic syndrome
  • p.Ser555fs Multiple submitters hereditary neoplastic syndrome
  • p.Trp423Arg Multiple submitters hereditary neoplastic syndrome
  • p.Trp436Arg Multiple submitters hereditary neoplastic syndrome
  • p.Trp436Cys Multiple submitters hereditary neoplastic syndrome
  • p.Val215Met Multiple submitters multiple endocrine neoplasia type 1
  • p.Val537fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Tyr351Cys No assertion criteria

Likely pathogenic 140

  • c.445+1G>T Multiple submitters multiple endocrine neoplasia type 1
  • c.*412G>A Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala164Val Multiple submitters hereditary neoplastic syndrome
  • p.Arg452Pro Multiple submitters multiple endocrine neoplasia type 1
  • p.Asp172Val Multiple submitters hereditary neoplastic syndrome
  • p.Asp33Tyr Multiple submitters hereditary neoplastic syndrome
  • p.Asp350Val Multiple submitters multiple endocrine neoplasia type 1
  • p.Cys241Arg Multiple submitters hereditary neoplastic syndrome
  • p.Gln450His Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gln578Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly225Arg Multiple submitters hereditary neoplastic syndrome
  • p.His139Gln Multiple submitters multiple endocrine neoplasia type 1
  • p.Ile348Asn Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu338Pro Multiple submitters hereditary neoplastic syndrome
  • p.Met278Arg Multiple submitters multiple endocrine neoplasia type 1
  • p.Met278Ile Multiple submitters hereditary neoplastic syndrome
  • p.Met558Thr Multiple submitters multiple endocrine neoplasia type 1
  • p.Phe144Cys Multiple submitters multiple endocrine neoplasia type 1
  • p.Phe447Ser Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro12Arg Multiple submitters hereditary neoplastic syndrome
  • p.Ser253Ter Multiple submitters multiple endocrine neoplasia type 1
  • p.Ser308Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ser427Arg Multiple submitters hereditary neoplastic syndrome
  • p.Trp220Arg Multiple submitters hereditary neoplastic syndrome
  • c.1049+5G>C Single submitter multiple endocrine neoplasia type 1
  • c.1050-1_1054del Single submitter multiple endocrine neoplasia type 1
  • c.1050-7_1051del Single submitter multiple endocrine neoplasia type 1
  • c.1170_1185+33del Single submitter multiple endocrine neoplasia type 1
  • c.1185+1G>C Single submitter multiple endocrine neoplasia type 1
  • c.1186-1G>A Single submitter multiple endocrine neoplasia type 1
  • c.1186-1G>C Single submitter multiple endocrine neoplasia type 1
  • c.445+1G>A Single submitter multiple endocrine neoplasia type 1 ⚠
  • c.649_654+2del Single submitter multiple endocrine neoplasia type 1
  • c.654+3A>G Single submitter multiple endocrine neoplasia type 1
  • c.655-15_655-14del Single submitter multiple endocrine neoplasia type 1
  • c.655-15_658del Single submitter multiple endocrine neoplasia type 1
  • c.783+2del Single submitter multiple endocrine neoplasia type 1
  • c.783+2T>G Single submitter
  • c.784-1G>A Single submitter multiple endocrine neoplasia type 1
  • c.784-2A>T Single submitter multiple endocrine neoplasia type 1
  • c.824+1G>C Single submitter hereditary neoplastic syndrome
  • c.824+2T>C Single submitter multiple endocrine neoplasia type 1
  • c.824+5G>A Single submitter
  • c.825-1_825del Single submitter multiple endocrine neoplasia type 1
  • c.825-1G>A Single submitter hereditary neoplastic syndrome
  • c.825-2A>G Single submitter multiple endocrine neoplasia type 1
  • c.912+2T>A Single submitter multiple endocrine neoplasia type 1
  • c.913-2A>C Single submitter hereditary neoplastic syndrome
  • c.-23-11_-22del Single submitter multiple endocrine neoplasia type 1
  • c.-23-22C>A Single submitter multiple endocrine neoplasia type 1
  • p.Ala25_Arg29del Single submitter Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
  • p.Ala284Val Single submitter hereditary neoplastic syndrome
  • p.Ala337Pro Single submitter multiple endocrine neoplasia type 1
  • p.Ala337Thr Single submitter multiple endocrine neoplasia type 1
  • p.Ala342Pro Single submitter multiple endocrine neoplasia type 1
  • p.Ala368fs Single submitter multiple endocrine neoplasia type 1
  • p.Ala368Pro Single submitter hereditary neoplastic syndrome
  • p.Ala368Thr Single submitter hereditary neoplastic syndrome
  • p.Ala411Pro Single submitter multiple endocrine neoplasia type 1
  • p.Ala49Pro Single submitter hereditary neoplastic syndrome
  • p.Arg355fs Single submitter multiple endocrine neoplasia type 1
  • p.Arg452Gly Single submitter multiple endocrine neoplasia type 1
  • p.Arg452Leu Single submitter hereditary neoplastic syndrome
  • p.Arg52Gly Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Asn203fs Single submitter
  • p.Asn571fs Single submitter hereditary neoplastic syndrome
  • p.Asp153Ala Single submitter multiple endocrine neoplasia type 1
  • p.Asp153Glu Single submitter multiple endocrine neoplasia type 1
  • p.Asp33Glu Single submitter multiple endocrine neoplasia type 1
  • p.Asp33His Single submitter multiple endocrine neoplasia type 1
  • p.Cys165Arg Single submitter multiple endocrine neoplasia type 1
  • p.Cys230Arg Single submitter
  • p.Gln258dup Single submitter
  • p.Gln578fs Single submitter multiple endocrine neoplasia type 1
  • p.Gln586Ter Single submitter multiple endocrine neoplasia type 1
  • p.Glu424fs Single submitter multiple endocrine neoplasia type 1
  • p.Glu45Val Single submitter multiple endocrine neoplasia type 1
  • p.Glu466fs Single submitter multiple endocrine neoplasia type 1
  • p.Glu491Ter Single submitter multiple endocrine neoplasia type 1
  • p.Gly156fs Single submitter multiple endocrine neoplasia type 1
  • p.Gly271Ter Single submitter
  • p.Gly281Arg Single submitter hereditary neoplastic syndrome
  • p.Gly419Val Single submitter multiple endocrine neoplasia type 1
  • p.Gly42Arg Single submitter hereditary neoplastic syndrome
  • p.Gly42Val Single submitter ⚠
  • p.His139Pro Single submitter multiple endocrine neoplasia type 1
  • p.His181Asp Single submitter hereditary neoplastic syndrome
  • p.His317Arg Single submitter hereditary neoplastic syndrome
  • p.His328Arg Single submitter multiple endocrine neoplasia type 1
  • p.His328Pro Single submitter multiple endocrine neoplasia type 1
  • p.His46Arg Single submitter multiple endocrine neoplasia type 1
  • p.His46Leu Single submitter multiple endocrine neoplasia type 1
  • p.His46Pro Single submitter multiple endocrine neoplasia type 1
  • p.Ile420Ser Single submitter hereditary neoplastic syndrome
  • p.Leu143Arg Single submitter multiple endocrine neoplasia type 1
  • p.Leu143His Single submitter multiple endocrine neoplasia type 1
  • p.Leu177Arg Single submitter hereditary neoplastic syndrome
  • p.Leu223Arg Single submitter multiple endocrine neoplasia type 1
  • p.Leu22Met Single submitter multiple endocrine neoplasia type 1
  • p.Leu256Arg Single submitter multiple endocrine neoplasia type 1
  • p.Leu256Pro Single submitter multiple endocrine neoplasia type 1
  • p.Leu257fs Single submitter multiple endocrine neoplasia type 1
  • p.Leu273Arg Single submitter multiple endocrine neoplasia type 1
  • p.Leu376Pro Single submitter hereditary neoplastic syndrome
  • p.Leu413Pro Single submitter multiple endocrine neoplasia type 1
  • p.Leu432Arg Single submitter hereditary neoplastic syndrome
  • p.Leu444Pro Single submitter
  • p.Lys119Met Single submitter multiple endocrine neoplasia type 1
  • p.Lys233fs Single submitter multiple endocrine neoplasia type 1
  • p.Lys377fs Single submitter
  • p.Lys557Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys576fs Single submitter hereditary neoplastic syndrome
  • p.Met228fs Single submitter
  • p.Met558del Single submitter hereditary neoplastic syndrome
  • p.Met561Arg Single submitter hereditary neoplastic syndrome
  • p.Phe410fs Single submitter multiple endocrine neoplasia type 1
  • p.Pro277Arg Single submitter hereditary neoplastic syndrome
  • p.Pro320Thr Single submitter multiple endocrine neoplasia type 1
  • p.Pro373Ser Single submitter multiple endocrine neoplasia type 1
  • p.Ser104Tyr Single submitter hereditary neoplastic syndrome
  • p.Ser142Pro Single submitter hereditary neoplastic syndrome
  • p.Ser178Cys Single submitter
  • p.Ser38Pro Single submitter hereditary neoplastic syndrome
  • p.Ser38Tyr Single submitter multiple endocrine neoplasia type 1
  • p.Ser427Ile Single submitter hereditary breast ovarian cancer syndrome
  • p.Ser555Gly Single submitter multiple endocrine neoplasia type 1
  • p.Thr148Pro Single submitter multiple endocrine neoplasia type 1
  • p.Thr251Pro Single submitter hereditary neoplastic syndrome
  • p.Thr311fs Single submitter
  • p.Thr344Pro Single submitter
  • p.Thr580fs Single submitter multiple endocrine neoplasia type 1
  • p.Tyr319fs Single submitter multiple endocrine neoplasia type 1
  • p.Tyr351Asn Single submitter hereditary neoplastic syndrome
  • p.Tyr353Asp Single submitter multiple endocrine neoplasia type 1
  • p.Val118Glu Single submitter hereditary neoplastic syndrome
  • p.Val215Glu Single submitter multiple endocrine neoplasia type 1
  • p.Val522fs Single submitter multiple endocrine neoplasia type 1
  • c.1351-12_1352del No assertion criteria multiple endocrine neoplasia type 1
  • p.Gly163Arg No assertion criteria multiple endocrine neoplasia type 1
  • p.Thr438fs No assertion criteria multiple endocrine neoplasia type 1

Conflicting classifications of pathogenicity 230

  • c.1049+3G>A Single submitter hereditary neoplastic syndrome
  • c.1049+9C>T Single submitter hyperparathyroidism
  • c.1050-15C>G Single submitter multiple endocrine neoplasia type 1
  • c.1050-34_1050-14del Single submitter multiple endocrine neoplasia type 1
  • c.1050-3C>G Single submitter multiple endocrine neoplasia type 1
  • c.1185+12G>A Single submitter multiple endocrine neoplasia type 1
  • c.1185+1G>A Single submitter multiple endocrine neoplasia type 1 ⚠
  • c.1185+4A>G Single submitter MEN1-related disorder
  • c.1185+5A>G Single submitter hereditary neoplastic syndrome
  • c.1186-10C>T Single submitter hyperparathyroidism
  • c.1186-15T>A Single submitter multiple endocrine neoplasia type 1
  • c.1186-2A>G Single submitter hereditary neoplastic syndrome ⚠
  • c.1186-6G>A Single submitter multiple endocrine neoplasia type 1
  • c.1350+3G>A Single submitter multiple endocrine neoplasia type 1
  • c.1351-4C>T Single submitter hyperparathyroidism
  • c.654+3A>T Single submitter
  • c.655-4del Single submitter hereditary neoplastic syndrome
  • c.655-5C>A Single submitter hereditary neoplastic syndrome
  • c.655-5C>G Single submitter hereditary neoplastic syndrome
  • c.655-5dup Single submitter hereditary neoplastic syndrome
  • c.655-6C>A Single submitter hereditary neoplastic syndrome
  • c.655-6C>G Single submitter hyperparathyroidism
  • c.655-6C>T Single submitter hereditary neoplastic syndrome
  • c.655-7C>A Single submitter multiple endocrine neoplasia type 1
  • c.783+3G>A Single submitter multiple endocrine neoplasia type 1
  • c.784-10C>T Single submitter multiple endocrine neoplasia type 1
  • c.784-19TC[2] Single submitter multiple endocrine neoplasia type 1
  • c.825-4C>A Single submitter hereditary neoplastic syndrome
  • c.913-5T>C Single submitter multiple endocrine neoplasia type 1
  • c.-10G>A Single submitter multiple endocrine neoplasia type 1
  • c.-13_-7dup Single submitter multiple endocrine neoplasia type 1
  • c.-22C>A Single submitter hereditary neoplastic syndrome
  • c.-6G>A Single submitter hereditary neoplastic syndrome
  • c.*10G>T Single submitter multiple endocrine neoplasia type 1
  • c.*126C>T Single submitter hyperparathyroidism
  • c.*470A>G Single submitter hyperparathyroidism
  • p.462AEA[1] Single submitter multiple endocrine neoplasia type 1
  • p.Ala100Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala158Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala164Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala176Ser Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Ala176Thr Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Ala213Glu Single submitter hereditary neoplastic syndrome
  • p.Ala237Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala24Val Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Ala284Thr Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Ala307Asp Single submitter multiple endocrine neoplasia type 1
  • p.Ala380Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala385Val Single submitter hereditary neoplastic syndrome
  • p.Ala403Thr Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Ala411Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala411Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala464Val Single submitter hereditary neoplastic syndrome
  • p.Ala467Thr Single submitter hereditary neoplastic syndrome
  • p.Ala475_Glu477del Single submitter multiple endocrine neoplasia type 1
  • p.Ala523Pro Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Ala523Thr Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Ala526Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala567= Single submitter hereditary neoplastic syndrome
  • p.Ala6Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg171Gln Single submitter multiple endocrine neoplasia
  • p.Arg171Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg206His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg21= Single submitter hereditary neoplastic syndrome
  • p.Arg218Trp Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Arg21Ser Single submitter hyperparathyroidism ⚠
  • p.Arg229Cys Single submitter hereditary neoplastic syndrome
  • p.Arg229His Single submitter hereditary neoplastic syndrome
  • p.Arg232Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg275= Single submitter multiple endocrine neoplasia type 1
  • p.Arg295Gln Single submitter hereditary neoplastic syndrome
  • p.Arg295Trp Single submitter MEN1-related disorder ⚠
  • p.Arg314Gln Single submitter hereditary neoplastic syndrome
  • p.Arg314Trp Single submitter multiple endocrine neoplasia type 1
  • p.Arg330Cys Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Arg330His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg335= Single submitter hyperparathyroidism
  • p.Arg355Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg389Gln Single submitter hereditary neoplastic syndrome
  • p.Arg389Pro Single submitter multiple endocrine neoplasia type 1
  • p.Arg389Trp Single submitter Hereditary cancer
  • p.Arg415Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg415Pro Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Arg452Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg452Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg456Cys Single submitter hereditary neoplastic syndrome
  • p.Arg456His Single submitter multiple endocrine neoplasia type 1
  • p.Arg460Gln Single submitter hereditary neoplastic syndrome
  • p.Arg476Trp Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Arg516Gly Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Arg527Gln Single submitter hereditary neoplastic syndrome
  • p.Asn189Lys Single submitter multiple endocrine neoplasia type 1
  • p.Asn189Ser Single submitter hereditary neoplastic syndrome
  • p.Asn331= Single submitter multiple endocrine neoplasia type 1
  • p.Asn374Ser Single submitter hereditary neoplastic syndrome
  • p.Asp17Asn Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Asp252His Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp252Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp315Tyr Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Asp501= Single submitter multiple endocrine neoplasia type 1
  • p.Cys354Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys354Tyr Single submitter hereditary neoplastic syndrome
  • p.Cys409Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln141Arg Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Gln166His Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Gln258His Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln398Glu Single submitter hereditary neoplastic syndrome
  • p.Gln508Lys Single submitter hereditary neoplastic syndrome
  • p.Gln7= Single submitter hereditary neoplastic syndrome
  • p.Gln7Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu109Asp Single submitter hyperparathyroidism ⚠
  • p.Glu191Asp Single submitter multiple endocrine neoplasia type 1
  • p.Glu235Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu255Gln Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Glu255Lys Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Glu290Ala Single submitter hereditary neoplastic syndrome
  • p.Glu316Asp Single submitter hereditary neoplastic syndrome
  • p.Glu31Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu359del Single submitter multiple endocrine neoplasia type 1
  • p.Glu366= Single submitter multiple endocrine neoplasia type 1
  • p.Glu366Asp Single submitter hereditary neoplastic syndrome
  • p.Glu424Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu463Gln Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Glu466Lys Single submitter hereditary neoplastic syndrome
  • p.Glu547Gly Single submitter hereditary neoplastic syndrome
  • p.Glu563= Single submitter hereditary neoplastic syndrome
  • p.Gly110Glu Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Gly156Ser Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Gly190= Single submitter hereditary neoplastic syndrome
  • p.Gly214Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly225= Single submitter multiple endocrine neoplasia type 1
  • p.Gly386Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly386Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly42Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly472= Single submitter hereditary neoplastic syndrome
  • p.Gly507Ser Single submitter multiple endocrine neoplasia type 1
  • p.Gly520Arg Single submitter hereditary neoplastic syndrome
  • p.Gly532Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly99= Single submitter multiple endocrine neoplasia type 1
  • p.His303Arg Single submitter multiple endocrine neoplasia type 1
  • p.His46Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile247Thr Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Ile420Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile570_Lys576del Single submitter hereditary neoplastic syndrome
  • p.Leu10= Single submitter hyperparathyroidism
  • p.Leu13Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu152Trp Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Leu221Pro Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Leu254= Single submitter hereditary neoplastic syndrome
  • p.Leu259Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu263Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu273= Single submitter hereditary neoplastic syndrome
  • p.Leu273Pro Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Leu280Ser Single submitter MEN1-related disorder ⚠
  • p.Leu286= Single submitter hereditary neoplastic syndrome
  • p.Leu299= Single submitter hereditary neoplastic syndrome
  • p.Leu3= Single submitter multiple endocrine neoplasia type 1
  • p.Leu338Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu375Val Single submitter hereditary neoplastic syndrome
  • p.Leu432= Single submitter hyperparathyroidism
  • p.Leu432Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu48Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu577Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu579Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu83Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu89_Ala95del Single submitter hereditary neoplastic syndrome
  • p.Lys304= Single submitter multiple endocrine neoplasia type 1
  • p.Lys304Asn Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Lys502Asn Single submitter MEN1-related disorder
  • p.Lys557del Single submitter MEN1-related disorder
  • p.Met1fs Single submitter hereditary neoplastic syndrome ⚠
  • p.Met228Val Single submitter MEN1-related disorder
  • p.Met322Leu Single submitter hereditary neoplastic syndrome
  • p.Phe144Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Phe553= Single submitter multiple endocrine neoplasia type 1
  • p.Phe63Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Phe63Tyr Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Pro188Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro277= Single submitter hereditary neoplastic syndrome
  • p.Pro320Arg Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Pro32Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro373Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro390Leu Single submitter hereditary neoplastic syndrome
  • p.Pro470Leu Single submitter hyperparathyroidism
  • p.Pro489Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro493Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro493Ser Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Pro494Leu Single submitter hereditary neoplastic syndrome
  • p.Pro498Ala Single submitter hereditary neoplastic syndrome
  • p.Pro514Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro514Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro514Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro515Ser Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Pro540Ser Single submitter Hereditary cancer ⚠
  • p.Pro544Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro545Ser Single submitter hereditary neoplastic syndrome
  • p.Pro546dup Single submitter multiple endocrine neoplasia type 1
  • p.Pro546Leu Single submitter hereditary neoplastic syndrome
  • p.Pro59= Single submitter multiple endocrine neoplasia type 1
  • p.Pro67Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro69Ser Single submitter MEN1-related disorder ⚠
  • p.Pro79Arg Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Ser219= Single submitter hereditary neoplastic syndrome
  • p.Ser253Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser512Leu Single submitter hyperparathyroidism
  • p.Ser593= Single submitter multiple endocrine neoplasia type 1
  • p.Ser593Pro Single submitter hereditary neoplastic syndrome
  • p.Ser66Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser84_Leu89del Single submitter multiple endocrine neoplasia type 1
  • p.Thr251= Single submitter hereditary neoplastic syndrome
  • p.Thr344Met Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Thr506Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr541= Single submitter primary hyperparathyroidism
  • p.Thr568Ile Single submitter multiple endocrine neoplasia type 1
  • p.Thr94Ile Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Tyr106Cys Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Tyr268Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Tyr321= Single submitter multiple endocrine neoplasia type 1
  • p.Tyr327Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Tyr90Cys Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Val118Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Val162Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Val185Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Val196Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Val215= Single submitter hereditary neoplastic syndrome
  • p.Val367Ile Single submitter hereditary neoplastic syndrome
  • p.Val455Glu Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Val522Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Val537Gly Single submitter multiple endocrine neoplasia type 1
  • p.Val537Met Single submitter hereditary neoplastic syndrome

Benign 44

  • c.1049+115A>G Multiple submitters
  • c.1185+18C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.1350+103G>C Multiple submitters
  • c.912+283C>T Multiple submitters
  • c.913-42G>C Multiple submitters hereditary neoplastic syndrome
  • c.-23-16C>G Multiple submitters hereditary neoplastic syndrome
  • c.-358T>C Multiple submitters
  • c.-35A>C Multiple submitters hyperparathyroidism
  • c.-35A>T Multiple submitters hyperparathyroidism
  • c.-43C>T Multiple submitters
  • p.Asp418= Multiple submitters hyperparathyroidism
  • p.His433= Multiple submitters hereditary neoplastic syndrome
  • p.Ser145= Multiple submitters hyperparathyroidism
  • c.1050-65T>A Single submitter
  • c.1050-71G>A Single submitter
  • c.445+183G>A Single submitter
  • c.654+18del Single submitter multiple endocrine neoplasia type 1
  • c.654+18dup Single submitter multiple endocrine neoplasia type 1
  • c.654+82C>T Single submitter
  • c.-217T>A Single submitter
  • c.-844C>T Single submitter
  • c.*10G>A Single submitter multiple endocrine neoplasia type 1
  • c.*2C>T Single submitter multiple endocrine neoplasia type 1
  • c.*6T>C Single submitter multiple endocrine neoplasia type 1
  • c.*8G>A Single submitter multiple endocrine neoplasia type 1
  • c.*9G>A Single submitter multiple endocrine neoplasia type 1
  • c.*9G>T Single submitter multiple endocrine neoplasia type 1
  • p.Ala242= Single submitter multiple endocrine neoplasia type 1
  • p.Arg456= Single submitter multiple endocrine neoplasia type 1
  • p.Asp418_Gly419= Single submitter multiple endocrine neoplasia type 1
  • p.Gln395His Single submitter multiple endocrine neoplasia type 1 ⚠
  • p.Glu392= Single submitter multiple endocrine neoplasia type 1
  • p.Gly110= Single submitter multiple endocrine neoplasia type 1
  • p.Gly111= Single submitter multiple endocrine neoplasia type 1
  • p.Gly513= Single submitter multiple endocrine neoplasia type 1
  • p.Gly532= Single submitter multiple endocrine neoplasia type 1
  • p.Ile16= Single submitter multiple endocrine neoplasia type 1
  • p.Ile348= Single submitter multiple endocrine neoplasia type 1
  • p.Leu432_His433= Single submitter multiple endocrine neoplasia type 1
  • p.Leu603= Single submitter multiple endocrine neoplasia type 1
  • p.Phe93= Single submitter multiple endocrine neoplasia type 1
  • p.Val347= Single submitter multiple endocrine neoplasia type 1
  • p.Val44= Single submitter multiple endocrine neoplasia type 1
  • c.-23-14G>C No assertion criteria MEN1-related disorder

Benign/Likely benign 160

  • c.1351-24_1351-14del Multiple submitters multiple endocrine neoplasia type 1
  • c.1351-35ACCTTGCTCTC[3] Multiple submitters multiple endocrine neoplasia type 1
  • c.654+18C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.655-5del Multiple submitters hereditary neoplastic syndrome
  • c.784-129T>A Multiple submitters pituitary adenoma 5, multiple types
  • c.913-8C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.-20G>A Multiple submitters hereditary neoplastic syndrome
  • c.*1A>C Multiple submitters multiple endocrine neoplasia type 1
  • c.*302C>T Multiple submitters hyperparathyroidism
  • c.*307T>G Multiple submitters hyperparathyroidism
  • c.*3T>A Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala100= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala158= Multiple submitters hereditary neoplastic syndrome
  • p.Ala160= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala164= Multiple submitters hereditary neoplastic syndrome
  • p.Ala194= Multiple submitters hereditary neoplastic syndrome
  • p.Ala237= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala279= Multiple submitters hereditary neoplastic syndrome
  • p.Ala340= Multiple submitters hereditary neoplastic syndrome
  • p.Ala385= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala403= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala462= Multiple submitters hereditary neoplastic syndrome
  • p.Ala464= Multiple submitters hereditary neoplastic syndrome
  • p.Ala465= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala467= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala499= Multiple submitters hereditary neoplastic syndrome
  • p.Ala5= Multiple submitters hereditary neoplastic syndrome
  • p.Ala526= Multiple submitters hereditary neoplastic syndrome
  • p.Ala574= Multiple submitters hereditary neoplastic syndrome
  • p.Ala6= Multiple submitters hereditary neoplastic syndrome
  • p.Ala81= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala87= Multiple submitters hereditary neoplastic syndrome
  • p.Arg115= Multiple submitters hereditary neoplastic syndrome
  • p.Arg171= Multiple submitters hereditary neoplastic syndrome
  • p.Arg207= Multiple submitters hereditary neoplastic syndrome
  • p.Arg229= Multiple submitters multiple endocrine neoplasia type 1
  • p.Arg460= Multiple submitters multiple endocrine neoplasia type 1
  • p.Arg479= Multiple submitters hereditary neoplastic syndrome
  • p.Arg485= Multiple submitters hereditary neoplastic syndrome
  • p.Arg52= Multiple submitters hereditary neoplastic syndrome
  • p.Arg527= Multiple submitters hereditary neoplastic syndrome
  • p.Asn203= Multiple submitters hereditary neoplastic syndrome
  • p.Asn333= Multiple submitters multiple endocrine neoplasia type 1
  • p.Asn51= Multiple submitters multiple endocrine neoplasia type 1
  • p.Asn57= Multiple submitters multiple endocrine neoplasia type 1
  • p.Asp102= Multiple submitters multiple endocrine neoplasia type 1
  • p.Asp17= Multiple submitters multiple endocrine neoplasia type 1
  • p.Asp252= Multiple submitters hereditary neoplastic syndrome
  • p.Asp357= Multiple submitters multiple endocrine neoplasia type 1
  • p.Asp82Glu Multiple submitters hereditary neoplastic syndrome
  • p.Cys165= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln209= Multiple submitters hereditary neoplastic syndrome
  • p.Gln453= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln536= Multiple submitters hereditary neoplastic syndrome
  • p.Gln586= Multiple submitters hereditary neoplastic syndrome
  • p.Gln96= Multiple submitters hereditary neoplastic syndrome
  • p.Glu109= Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu287= Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu290= Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu358= Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu425= Multiple submitters hereditary neoplastic syndrome
  • p.Glu448= Multiple submitters hereditary neoplastic syndrome
  • p.Glu45= Multiple submitters hereditary neoplastic syndrome
  • p.Glu466= Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu468= Multiple submitters hereditary neoplastic syndrome
  • p.Glu473= Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu486= Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu556= Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu60= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly214= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly28= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly305= Multiple submitters hereditary neoplastic syndrome
  • p.Gly391= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly401= Multiple submitters hereditary neoplastic syndrome
  • p.Gly42= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly503= Multiple submitters hereditary neoplastic syndrome
  • p.Gly503Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly73= Multiple submitters hereditary neoplastic syndrome
  • p.His139= Multiple submitters multiple endocrine neoplasia type 1
  • p.His174= Multiple submitters hereditary neoplastic syndrome
  • p.His199= Multiple submitters hereditary neoplastic syndrome
  • p.His250= Multiple submitters hereditary neoplastic syndrome
  • p.His303= Multiple submitters hereditary neoplastic syndrome
  • p.His328= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ile125= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ile140= Multiple submitters hereditary neoplastic syndrome
  • p.Ile243= Multiple submitters hereditary neoplastic syndrome
  • p.Ile360= Multiple submitters hereditary neoplastic syndrome
  • p.Ile86= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu105= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu129= Multiple submitters hereditary neoplastic syndrome
  • p.Leu175= Multiple submitters hereditary neoplastic syndrome
  • p.Leu177= Multiple submitters hereditary neoplastic syndrome
  • p.Leu22= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu221= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu264= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu270= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu283= Multiple submitters hereditary neoplastic syndrome
  • p.Leu36= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu383= Multiple submitters hereditary neoplastic syndrome
  • p.Leu41= Multiple submitters hereditary neoplastic syndrome
  • p.Leu83= Multiple submitters hereditary neoplastic syndrome
  • p.Lys120= Multiple submitters multiple endocrine neoplasia type 1
  • p.Lys262= Multiple submitters hereditary neoplastic syndrome
  • p.Lys588= Multiple submitters hereditary neoplastic syndrome
  • p.Lys8= Multiple submitters hereditary neoplastic syndrome
  • p.Phe410= Multiple submitters hereditary neoplastic syndrome
  • p.Phe43= Multiple submitters hereditary neoplastic syndrome
  • p.Phe602= Multiple submitters hereditary neoplastic syndrome
  • p.Phe63= Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro12= Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro291= Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro298= Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro32= Multiple submitters hereditary neoplastic syndrome
  • p.Pro390= Multiple submitters hereditary neoplastic syndrome
  • p.Pro518= Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro545= Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro546= Multiple submitters hereditary neoplastic syndrome
  • p.Pro549= Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro65= Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro67= Multiple submitters hereditary neoplastic syndrome
  • p.Ser113= Multiple submitters hereditary neoplastic syndrome
  • p.Ser122= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ser130= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ser132= Multiple submitters hereditary neoplastic syndrome
  • p.Ser15= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ser155= Multiple submitters hereditary neoplastic syndrome
  • p.Ser38= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ser402= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ser459= Multiple submitters hereditary neoplastic syndrome
  • p.Ser512= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ser583= Multiple submitters hereditary neoplastic syndrome
  • p.Ser66= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ser84= Multiple submitters hereditary neoplastic syndrome
  • p.Thr150= Multiple submitters multiple endocrine neoplasia type 1
  • p.Thr193= Multiple submitters hereditary neoplastic syndrome
  • p.Thr197= Multiple submitters hereditary neoplastic syndrome
  • p.Thr292= Multiple submitters hereditary neoplastic syndrome
  • p.Thr429= Multiple submitters hereditary neoplastic syndrome
  • p.Thr438= Multiple submitters multiple endocrine neoplasia type 1
  • p.Thr552= Multiple submitters hereditary neoplastic syndrome
  • p.Thr594= Multiple submitters hereditary neoplastic syndrome
  • p.Thr9= Multiple submitters hereditary neoplastic syndrome
  • p.Thr94= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr227= Multiple submitters multiple endocrine neoplasia type 1
  • p.Tyr276= Multiple submitters multiple endocrine neoplasia type 1
  • p.Tyr312= Multiple submitters multiple endocrine neoplasia type 1
  • p.Tyr319= Multiple submitters multiple endocrine neoplasia type 1
  • p.Tyr361= Multiple submitters multiple endocrine neoplasia type 1
  • p.Tyr417= Multiple submitters multiple endocrine neoplasia type 1
  • p.Tyr598= Multiple submitters hereditary neoplastic syndrome
  • p.Val121= Multiple submitters multiple endocrine neoplasia type 1
  • p.Val157= Multiple submitters hereditary neoplastic syndrome
  • p.Val19= Multiple submitters hereditary neoplastic syndrome
  • p.Val196= Multiple submitters hereditary neoplastic syndrome
  • p.Val240= Multiple submitters multiple endocrine neoplasia type 1
  • p.Val455= Multiple submitters hereditary neoplastic syndrome
  • p.Val458= Multiple submitters multiple endocrine neoplasia type 1
  • c.*185C>T Single submitter hyperparathyroidism
  • c.*794G>A Single submitter hyperparathyroidism

Likely benign 516

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1049+9C>A Multiple submitters multiple endocrine neoplasia type 1
  • c.1049+9C>G Multiple submitters multiple endocrine neoplasia type 1
  • c.1050-10G>A Multiple submitters multiple endocrine neoplasia type 1
  • c.1050-10G>C Multiple submitters multiple endocrine neoplasia type 1
  • c.1050-163T>C Multiple submitters
  • c.1050-19G>C Multiple submitters multiple endocrine neoplasia type 1
  • c.1050-19G>T Multiple submitters multiple endocrine neoplasia type 1
  • c.1050-7C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.1185+19A>G Multiple submitters multiple endocrine neoplasia type 1
  • c.1185+8G>T Multiple submitters multiple endocrine neoplasia type 1
  • c.1186-13C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.1186-16C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.1186-17C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.1186-20C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.1186-4C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.1186-7C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.1186-8del Multiple submitters multiple endocrine neoplasia type 1
  • c.1350+6G>A Multiple submitters multiple endocrine neoplasia type 1
  • c.1351-10A>G Multiple submitters multiple endocrine neoplasia type 1
  • c.1351-11C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.1351-16C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.1351-6G>A Multiple submitters multiple endocrine neoplasia type 1
  • c.1351-8T>C Multiple submitters multiple endocrine neoplasia type 1
  • c.1351-8T>G Multiple submitters multiple endocrine neoplasia type 1
  • c.445+7G>A Multiple submitters multiple endocrine neoplasia type 1
  • c.445+9C>G Multiple submitters multiple endocrine neoplasia type 1
  • c.446-10C>A Multiple submitters multiple endocrine neoplasia type 1
  • c.446-10C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.446-11C>G Multiple submitters multiple endocrine neoplasia type 1
  • c.446-12C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.446-17A>G Multiple submitters multiple endocrine neoplasia type 1
  • c.446-4A>G Multiple submitters multiple endocrine neoplasia type 1
  • c.446-7T>C Multiple submitters multiple endocrine neoplasia type 1
  • c.446-9C>A Multiple submitters multiple endocrine neoplasia type 1
  • c.654+10C>A Multiple submitters multiple endocrine neoplasia type 1
  • c.654+10C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.654+18C>G Multiple submitters multiple endocrine neoplasia type 1
  • c.654+5T>C Multiple submitters multiple endocrine neoplasia type 1
  • c.654+9C>G Multiple submitters multiple endocrine neoplasia type 1
  • c.654+9C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.655-11C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.655-12T>C Multiple submitters multiple endocrine neoplasia type 1
  • c.655-18A>G Multiple submitters multiple endocrine neoplasia type 1
  • c.655-19G>A Multiple submitters multiple endocrine neoplasia type 1
  • c.655-7C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.783+10G>C Multiple submitters multiple endocrine neoplasia type 1
  • c.784-16C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.784-4C>T Multiple submitters hereditary neoplastic syndrome
  • c.784-8G>T Multiple submitters multiple endocrine neoplasia type 1
  • c.784-9G>C Multiple submitters multiple endocrine neoplasia type 1
  • c.824+10G>A Multiple submitters multiple endocrine neoplasia type 1
  • c.824+9A>G Multiple submitters multiple endocrine neoplasia type 1
  • c.825-10C>G Multiple submitters multiple endocrine neoplasia type 1
  • c.825-10C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.825-11T>C Multiple submitters multiple endocrine neoplasia type 1
  • c.825-13_825-11del Multiple submitters multiple endocrine neoplasia type 1
  • c.825-14T>C Multiple submitters multiple endocrine neoplasia type 1
  • c.912+10T>C Multiple submitters multiple endocrine neoplasia type 1
  • c.913-11C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.913-12A>C Multiple submitters multiple endocrine neoplasia type 1
  • c.913-13C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.913-15C>T Multiple submitters multiple endocrine neoplasia type 1
  • c.913-15del Multiple submitters multiple endocrine neoplasia type 1
  • c.913-4C>T Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala176= Multiple submitters hereditary neoplastic syndrome
  • p.Ala182= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala25= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala284= Multiple submitters hereditary neoplastic syndrome
  • p.Ala307= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala309= Multiple submitters hereditary neoplastic syndrome
  • p.Ala342= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala411= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala437= Multiple submitters hereditary neoplastic syndrome
  • p.Ala510= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala535= Multiple submitters hereditary neoplastic syndrome
  • p.Ala539= Multiple submitters hereditary neoplastic syndrome
  • p.Ala542= Multiple submitters hereditary neoplastic syndrome
  • p.Ala68= Multiple submitters hereditary neoplastic syndrome
  • p.Arg29= Multiple submitters multiple endocrine neoplasia type 1
  • p.Arg295= Multiple submitters hereditary neoplastic syndrome
  • p.Arg314= Multiple submitters multiple endocrine neoplasia type 1
  • p.Arg330= Multiple submitters hereditary neoplastic syndrome
  • p.Arg355= Multiple submitters multiple endocrine neoplasia type 1
  • p.Arg452= Multiple submitters hereditary neoplastic syndrome
  • p.Arg476= Multiple submitters multiple endocrine neoplasia type 1
  • p.Arg481= Multiple submitters hereditary neoplastic syndrome
  • p.Arg607= Multiple submitters hereditary neoplastic syndrome
  • p.Asn282= Multiple submitters multiple endocrine neoplasia type 1
  • p.Asp172= Multiple submitters hereditary neoplastic syndrome
  • p.Asp18= Multiple submitters hereditary neoplastic syndrome
  • p.Asp205= Multiple submitters hereditary neoplastic syndrome
  • p.Asp231= Multiple submitters hereditary neoplastic syndrome
  • p.Asp248= Multiple submitters hereditary neoplastic syndrome
  • p.Asp82= Multiple submitters hereditary neoplastic syndrome
  • p.Cys230= Multiple submitters hereditary neoplastic syndrome
  • p.Cys354= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln405= Multiple submitters hereditary neoplastic syndrome
  • p.Glu195= Multiple submitters hereditary neoplastic syndrome
  • p.Glu26= Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu288= Multiple submitters hereditary neoplastic syndrome
  • p.Glu363= Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu461= Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu490= Multiple submitters hereditary neoplastic syndrome
  • p.Glu491= Multiple submitters hereditary neoplastic syndrome
  • p.Glu547= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly202= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly281= Multiple submitters hereditary neoplastic syndrome
  • p.Gly326= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly386= Multiple submitters hereditary neoplastic syndrome
  • p.Gly478= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly505= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly507= Multiple submitters hereditary neoplastic syndrome
  • p.His317= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ile147= Multiple submitters hereditary neoplastic syndrome
  • p.Ile457= Multiple submitters hereditary neoplastic syndrome
  • p.Ile54= Multiple submitters hereditary neoplastic syndrome
  • p.Leu117= Multiple submitters hereditary neoplastic syndrome
  • p.Leu168= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu256= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu257= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu301= Multiple submitters hereditary neoplastic syndrome
  • p.Leu34= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu375= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu376= Multiple submitters hereditary neoplastic syndrome
  • p.Leu48= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu500= Multiple submitters hereditary neoplastic syndrome
  • p.Leu551= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu579= Multiple submitters hereditary neoplastic syndrome
  • p.Leu600= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu61= Multiple submitters hereditary neoplastic syndrome
  • p.Leu75= Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu89= Multiple submitters hereditary neoplastic syndrome
  • p.Lys362= Multiple submitters hereditary neoplastic syndrome
  • p.Lys454= Multiple submitters multiple endocrine neoplasia type 1
  • p.Lys497= Multiple submitters multiple endocrine neoplasia type 1
  • p.Lys502= Multiple submitters hereditary neoplastic syndrome
  • p.Lys559= Multiple submitters hereditary neoplastic syndrome
  • p.Phe11= Multiple submitters hereditary neoplastic syndrome
  • p.Phe365= Multiple submitters multiple endocrine neoplasia type 1
  • p.Phe447= Multiple submitters multiple endocrine neoplasia type 1
  • p.Phe78= Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro373= Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro492= Multiple submitters hereditary neoplastic syndrome
  • p.Pro495= Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro514= Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro71= Multiple submitters hereditary neoplastic syndrome
  • p.Pro72= Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro79= Multiple submitters hereditary neoplastic syndrome
  • p.Ser114= Multiple submitters hereditary neoplastic syndrome
  • p.Ser246= Multiple submitters hereditary neoplastic syndrome
  • p.Ser253= Multiple submitters hereditary neoplastic syndrome
  • p.Ser394= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ser443= Multiple submitters multiple endocrine neoplasia type 1
  • p.Ser533= Multiple submitters hereditary neoplastic syndrome
  • p.Ser572= Multiple submitters hereditary neoplastic syndrome
  • p.Ser573= Multiple submitters multiple endocrine neoplasia type 1
  • p.Thr311= Multiple submitters hereditary neoplastic syndrome
  • p.Thr346= Multiple submitters multiple endocrine neoplasia type 1
  • p.Thr534= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr133= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr222= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr302= Multiple submitters multiple endocrine neoplasia type 1
  • p.Tyr323= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr327= Multiple submitters hereditary neoplastic syndrome
  • p.Val112= Multiple submitters hereditary neoplastic syndrome
  • p.Val371= Multiple submitters multiple endocrine neoplasia type 1
  • p.Val441= Multiple submitters multiple endocrine neoplasia type 1
  • p.Val50= Multiple submitters hereditary neoplastic syndrome
  • p.Val522= Multiple submitters hereditary neoplastic syndrome
  • p.Val550= Multiple submitters multiple endocrine neoplasia type 1
  • p.Val585= Multiple submitters hereditary neoplastic syndrome
  • c.1049+10C>A Single submitter multiple endocrine neoplasia type 1
  • c.1049+11C>A Single submitter multiple endocrine neoplasia type 1
  • c.1049+11C>T Single submitter multiple endocrine neoplasia type 1
  • c.1049+12C>A Single submitter multiple endocrine neoplasia type 1
  • c.1049+12C>G Single submitter multiple endocrine neoplasia type 1
  • c.1049+13C>A Single submitter multiple endocrine neoplasia type 1
  • c.1049+13C>T Single submitter multiple endocrine neoplasia type 1
  • c.1049+15A>G Single submitter multiple endocrine neoplasia type 1
  • c.1049+16C>T Single submitter multiple endocrine neoplasia type 1
  • c.1049+17T>G Single submitter multiple endocrine neoplasia type 1
  • c.1049+18A>G Single submitter multiple endocrine neoplasia type 1
  • c.1049+20G>T Single submitter multiple endocrine neoplasia type 1
  • c.1049+229A>G Single submitter
  • c.1049+8T>C Single submitter multiple endocrine neoplasia type 1
  • c.1050-137C>A Single submitter
  • c.1050-138C>T Single submitter
  • c.1050-17C>T Single submitter multiple endocrine neoplasia type 1
  • c.1050-180C>T Single submitter
  • c.1050-18A>C Single submitter multiple endocrine neoplasia type 1
  • c.1050-19G>A Single submitter multiple endocrine neoplasia type 1
  • c.1050-20A>G Single submitter multiple endocrine neoplasia type 1
  • c.1050-216C>T Single submitter
  • c.1185+10dup Single submitter multiple endocrine neoplasia type 1
  • c.1185+11G>A Single submitter multiple endocrine neoplasia type 1
  • c.1185+12G>C Single submitter multiple endocrine neoplasia type 1
  • c.1185+13A>G Single submitter multiple endocrine neoplasia type 1
  • c.1185+14G>C Single submitter multiple endocrine neoplasia type 1
  • c.1185+15C>G Single submitter multiple endocrine neoplasia type 1
  • c.1185+17C>G Single submitter multiple endocrine neoplasia type 1
  • c.1185+18C>A Single submitter multiple endocrine neoplasia type 1
  • c.1185+7G>A Single submitter multiple endocrine neoplasia type 1
  • c.1185+7G>C Single submitter multiple endocrine neoplasia type 1
  • c.1185+9C>G Single submitter multiple endocrine neoplasia type 1
  • c.1186-11C>T Single submitter multiple endocrine neoplasia type 1
  • c.1186-14T>C Single submitter multiple endocrine neoplasia type 1
  • c.1186-18C>T Single submitter multiple endocrine neoplasia type 1
  • c.1186-5T>C Single submitter multiple endocrine neoplasia type 1
  • c.1186-7C>G Single submitter multiple endocrine neoplasia type 1
  • c.1186-9C>T Single submitter multiple endocrine neoplasia type 1
  • c.1350+12C>A Single submitter multiple endocrine neoplasia type 1
  • c.1350+15C>T Single submitter multiple endocrine neoplasia type 1
  • c.1350+16A>C Single submitter multiple endocrine neoplasia type 1
  • c.1350+17C>T Single submitter multiple endocrine neoplasia type 1
  • c.1350+18A>G Single submitter multiple endocrine neoplasia type 1
  • c.1350+19G>A Single submitter multiple endocrine neoplasia type 1
  • c.1350+7G>A Single submitter multiple endocrine neoplasia type 1
  • c.1350+8A>G Single submitter multiple endocrine neoplasia type 1
  • c.1351-10A>T Single submitter multiple endocrine neoplasia type 1
  • c.1351-10del Single submitter multiple endocrine neoplasia type 1
  • c.1351-11C>G Single submitter multiple endocrine neoplasia type 1
  • c.1351-12C>T Single submitter multiple endocrine neoplasia type 1
  • c.1351-13C>T Single submitter multiple endocrine neoplasia type 1
  • c.1351-15T>G Single submitter multiple endocrine neoplasia type 1
  • c.1351-16C>G Single submitter multiple endocrine neoplasia type 1
  • c.1351-18C>G Single submitter multiple endocrine neoplasia type 1
  • c.445+10C>T Single submitter multiple endocrine neoplasia type 1
  • c.445+7G>T Single submitter multiple endocrine neoplasia type 1
  • c.445+8C>T Single submitter multiple endocrine neoplasia type 1
  • c.446-10C>G Single submitter multiple endocrine neoplasia type 1
  • c.446-12C>G Single submitter multiple endocrine neoplasia type 1
  • c.446-13C>T Single submitter multiple endocrine neoplasia type 1
  • c.446-14T>C Single submitter multiple endocrine neoplasia type 1
  • c.446-18T>C Single submitter multiple endocrine neoplasia type 1
  • c.446-20A>C Single submitter multiple endocrine neoplasia type 1
  • c.446-20A>G Single submitter multiple endocrine neoplasia type 1
  • c.446-5C>A Single submitter multiple endocrine neoplasia type 1
  • c.446-6C>A Single submitter multiple endocrine neoplasia type 1
  • c.446-9C>G Single submitter multiple endocrine neoplasia type 1
  • c.446-9C>T Single submitter multiple endocrine neoplasia type 1
  • c.654+11C>T Single submitter multiple endocrine neoplasia type 1
  • c.654+12T>A Single submitter multiple endocrine neoplasia type 1
  • c.654+13C>A Single submitter multiple endocrine neoplasia type 1
  • c.654+14C>T Single submitter multiple endocrine neoplasia type 1
  • c.654+15C>G Single submitter multiple endocrine neoplasia type 1
  • c.654+15C>T Single submitter multiple endocrine neoplasia type 1
  • c.654+16C>A Single submitter multiple endocrine neoplasia type 1
  • c.654+16C>T Single submitter multiple endocrine neoplasia type 1
  • c.654+17C>A Single submitter multiple endocrine neoplasia type 1
  • c.654+17C>G Single submitter multiple endocrine neoplasia type 1
  • c.654+17C>T Single submitter multiple endocrine neoplasia type 1
  • c.654+18C>A Single submitter multiple endocrine neoplasia type 1
  • c.654+4_654+5delinsA Single submitter multiple endocrine neoplasia type 1
  • c.654+4T>A Single submitter multiple endocrine neoplasia type 1
  • c.654+8T>C Single submitter multiple endocrine neoplasia type 1
  • c.654+9C>A Single submitter multiple endocrine neoplasia type 1
  • c.655-10C>T Single submitter multiple endocrine neoplasia type 1
  • c.655-11C>G Single submitter multiple endocrine neoplasia type 1
  • c.655-12dup Single submitter multiple endocrine neoplasia type 1
  • c.655-13A>C Single submitter multiple endocrine neoplasia type 1
  • c.655-14C>T Single submitter multiple endocrine neoplasia type 1
  • c.655-16C>A Single submitter multiple endocrine neoplasia type 1
  • c.655-16C>G Single submitter multiple endocrine neoplasia type 1
  • c.655-16C>T Single submitter multiple endocrine neoplasia type 1
  • c.655-17T>A Single submitter multiple endocrine neoplasia type 1
  • c.655-17T>C Single submitter multiple endocrine neoplasia type 1
  • c.655-18A>T Single submitter multiple endocrine neoplasia type 1
  • c.655-19_655-17del Single submitter multiple endocrine neoplasia type 1
  • c.655-20T>C Single submitter multiple endocrine neoplasia type 1
  • c.655-4T>C Single submitter multiple endocrine neoplasia type 1
  • c.655-5C>T Single submitter multiple endocrine neoplasia type 1
  • c.655-7_655-4dup Single submitter multiple endocrine neoplasia type 1
  • c.655-8C>T Single submitter multiple endocrine neoplasia type 1
  • c.655-9C>A Single submitter multiple endocrine neoplasia type 1
  • c.655-9C>T Single submitter multiple endocrine neoplasia type 1
  • c.783+10G>A Single submitter multiple endocrine neoplasia type 1
  • c.783+16A>G Single submitter multiple endocrine neoplasia type 1
  • c.783+20G>A Single submitter multiple endocrine neoplasia type 1
  • c.783+7G>A Single submitter multiple endocrine neoplasia type 1
  • c.783+8C>A Single submitter multiple endocrine neoplasia type 1
  • c.784-13C>T Single submitter multiple endocrine neoplasia type 1
  • c.784-14C>T Single submitter multiple endocrine neoplasia type 1
  • c.784-16C>G Single submitter multiple endocrine neoplasia type 1
  • c.784-18C>G Single submitter multiple endocrine neoplasia type 1
  • c.784-20C>G Single submitter multiple endocrine neoplasia type 1
  • c.784-20C>T Single submitter multiple endocrine neoplasia type 1
  • c.784-7C>A Single submitter multiple endocrine neoplasia type 1
  • c.784-7C>G Single submitter multiple endocrine neoplasia type 1
  • c.784-8G>C Single submitter multiple endocrine neoplasia type 1
  • c.784-9G>T Single submitter multiple endocrine neoplasia type 1
  • c.824+12del Single submitter multiple endocrine neoplasia type 1
  • c.824+12G>A Single submitter multiple endocrine neoplasia type 1
  • c.824+16del Single submitter multiple endocrine neoplasia type 1
  • c.824+16T>A Single submitter multiple endocrine neoplasia type 1
  • c.824+17G>C Single submitter multiple endocrine neoplasia type 1
  • c.824+18G>A Single submitter multiple endocrine neoplasia type 1
  • c.824+19C>G Single submitter multiple endocrine neoplasia type 1
  • c.824+19C>T Single submitter multiple endocrine neoplasia type 1
  • c.824+8G>T Single submitter multiple endocrine neoplasia type 1
  • c.824+9A>C Single submitter multiple endocrine neoplasia type 1

Uncertain significance 1182

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1050-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.446-3C>A Multiple submitters hereditary neoplastic syndrome
  • c.446-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.654+6G>T Multiple submitters multiple endocrine neoplasia type 1
  • c.655-6_655-4del Multiple submitters multiple endocrine neoplasia type 1
  • c.783+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.784-10C>A Multiple submitters multiple endocrine neoplasia type 1
  • c.913-65_913-14del Multiple submitters multiple endocrine neoplasia type 1
  • c.-2C>T Multiple submitters hereditary neoplastic syndrome
  • p.462AEA[3] Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala158Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala158Val Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ala194Gly Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ala216Val Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala25Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala325Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala342Val Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ala345Ser Multiple submitters hereditary neoplastic syndrome
  • p.Ala368Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala379Glu Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala411Thr Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ala437Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala464_Glu468del Multiple submitters hereditary neoplastic syndrome
  • p.Ala464_Glu468dup Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala464Glu Multiple submitters hereditary neoplastic syndrome
  • p.Ala464Pro Multiple submitters hereditary neoplastic syndrome
  • p.Ala467Asp Multiple submitters multiple endocrine neoplasia type 1
  • p.Ala475Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala499Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala49Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala49Val Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ala539Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala542Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala567Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala5Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala68Thr Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ala68Val Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ala6Pro Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ala6Thr Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ala81Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala87Thr Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ala88Ser Multiple submitters neuroblastoma ⚠
  • p.Ala88Thr Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ala91Ser Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ala95Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg108Gly Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg115Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg115His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg131Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg137Pro Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg137Trp Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg14Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg14His Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg171Gly Multiple submitters hereditary neoplastic syndrome
  • p.Arg171Pro Multiple submitters hereditary neoplastic syndrome
  • p.Arg206Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg207Gly Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg218Gln Multiple submitters hereditary neoplastic syndrome
  • p.Arg218Pro Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg21Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg21His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg232His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg275Gly Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg29Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg314Gly Multiple submitters multiple endocrine neoplasia type 1
  • p.Arg314Leu Multiple submitters hereditary neoplastic syndrome
  • p.Arg332Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg332His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg332Leu Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg335Gln Multiple submitters hereditary neoplastic syndrome
  • p.Arg335Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg335Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg355Gln Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg446His Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg456Ser Multiple submitters multiple endocrine neoplasia type 1
  • p.Arg460Pro Multiple submitters hereditary neoplastic syndrome
  • p.Arg476Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg479Gln Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg479Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg479Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg480Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg481Trp Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg484Gln Multiple submitters hereditary neoplastic syndrome
  • p.Arg484Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg485Gln Multiple submitters hereditary neoplastic syndrome
  • p.Arg485Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg516Gln Multiple submitters multiple endocrine neoplasia type 1
  • p.Arg516Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg52Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg52His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg605Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg605Gly Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg92Cys Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg92Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg92His Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Arg98Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn127Lys Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Asn127Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn203Ser Multiple submitters multiple endocrine neoplasia type 1
  • p.Asn212Ser Multiple submitters hereditary neoplastic syndrome
  • p.Asn282Ser Multiple submitters hereditary neoplastic syndrome
  • p.Asn352del Multiple submitters multiple endocrine neoplasia type 1
  • p.Asn374Thr Multiple submitters hereditary neoplastic syndrome
  • p.Asn51Lys Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Asn51Ser Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Asn57Lys Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Asn57Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp102Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp123Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp136His Multiple submitters MEN1-related disorder ⚠
  • p.Asp17Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp180Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp18Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp231His Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Asp252Asn Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Asp269Gly Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Asp297Gly Multiple submitters hereditary neoplastic syndrome
  • p.Asp343Asn Multiple submitters multiple endocrine neoplasia type 1
  • p.Asp406Glu Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Asp597Ala Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Asp70Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp70Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp70Tyr Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Asp82His Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Asp82Tyr Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Cys230Tyr Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Cys241Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys354Phe Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln166Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln258Glu Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln393Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln393His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln450= Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln450Glu Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln536Arg Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln536Glu Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln536Leu Multiple submitters multiple endocrine neoplasia type 1
  • p.Gln64Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu109Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu116Lys Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Glu274Lys Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu290Gln Multiple submitters hereditary neoplastic syndrome
  • p.Glu290Lys Multiple submitters hereditary neoplastic syndrome
  • p.Glu290Val Multiple submitters hereditary neoplastic syndrome
  • p.Glu30Gly Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Glu30Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu31Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu336dup Multiple submitters hereditary neoplastic syndrome
  • p.Glu358Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu363Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu387Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu388Gly Multiple submitters hereditary neoplastic syndrome
  • p.Glu448Asp Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu461Gln Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Glu463Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu463Lys Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Glu466Asp Multiple submitters hereditary neoplastic syndrome
  • p.Glu466Gln Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu466Gly Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu466Val Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu468Lys Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Glu469Ala Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Glu469Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu469Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu477Asp Multiple submitters hereditary neoplastic syndrome
  • p.Glu477Gln Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Glu486Lys Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Glu530Ala Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu547Lys Multiple submitters multiple endocrine neoplasia type 1
  • p.Glu556Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu60Gln Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Glu60Gly Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Glu60Lys Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly110Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly111Asp Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly111Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly169Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly169Ser Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly190Arg Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly200Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly214Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly214Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly214Val Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly281Glu Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly28Arg Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly28Ser Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly294Asp Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly294Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly2Arg Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly2Glu Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly305Ser Multiple submitters hereditary neoplastic syndrome
  • p.Gly326Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly386Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly391Glu Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly396Asp Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly401Val Multiple submitters hereditary neoplastic syndrome
  • p.Gly419Ser Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly445Ser Multiple submitters hereditary neoplastic syndrome
  • p.Gly478Ala Multiple submitters hereditary neoplastic syndrome
  • p.Gly478Ser Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly482Ser Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly503Cys Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly505Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly505Val Multiple submitters hereditary neoplastic syndrome
  • p.Gly509Asp Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Gly509Cys Multiple submitters hereditary neoplastic syndrome
  • p.Gly509Val Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly524Asp Multiple submitters hereditary neoplastic syndrome
  • p.Gly531Ser Multiple submitters hereditary neoplastic syndrome
  • p.Gly532Val Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly548Ser Multiple submitters hereditary neoplastic syndrome
  • p.Gly548Val Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly560_Lys562del Multiple submitters multiple endocrine neoplasia type 1
  • p.Gly74Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His303Tyr Multiple submitters hereditary neoplastic syndrome
  • p.His328Asn Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.His328Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His328Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His412Tyr Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ile140Phe Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ile147Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile16Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile247Val Multiple submitters hereditary neoplastic syndrome
  • p.Ile306Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile348Met Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Ile85Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile97Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu105Val Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Leu10Arg Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Leu117Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu170Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu170Val Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Leu175His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu256Val Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Leu257Pro Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Leu267Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu270Pro Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Leu27Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu27Pro Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Leu299Ile Multiple submitters hereditary neoplastic syndrome
  • p.Leu299Val Multiple submitters hereditary neoplastic syndrome
  • p.Leu301Pro Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Leu34Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu37_Leu41dup Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu375Gln Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Leu37Phe Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Leu383Pro Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu404Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu500Arg Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu551Phe Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu551Pro Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Leu564Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu600_Ser601del Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu600fs Multiple submitters multiple endocrine neoplasia type 1
  • p.Leu610Phe Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Leu83_Ser84insLeu Multiple submitters hereditary neoplastic syndrome
  • p.Leu83Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu83Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu89Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu89Pro Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Lys151Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys233Gln Multiple submitters hereditary neoplastic syndrome
  • p.Lys262Arg Multiple submitters hereditary neoplastic syndrome
  • p.Lys304Glu Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Lys362Glu Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Lys377Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys454Thr Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Lys488Arg Multiple submitters multiple endocrine neoplasia type 1
  • p.Lys496Arg Multiple submitters hereditary neoplastic syndrome
  • p.Lys4Thr Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Lys517Arg Multiple submitters multiple endocrine neoplasia type 1
  • p.Lys589del Multiple submitters hereditary neoplastic syndrome
  • p.Lys608Glu Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Met234Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met234Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met239Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met322Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met322Thr Multiple submitters multiple endocrine neoplasia type 1
  • p.Met322Val Multiple submitters multiple endocrine neoplasia type 1
  • p.Met558Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met561Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met587Ile Multiple submitters hereditary neoplastic syndrome
  • p.Met587Leu Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Phe11Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe159Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe159Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe186Ile Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Phe364Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe410Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe447Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe553Tyr Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Phe78Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe93Val Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Pro107Ala Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Pro107Leu Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Pro107Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro188Ser Multiple submitters multiple endocrine neoplasia type 1
  • p.Pro277Leu Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Pro291Ala Multiple submitters multiple endocrine neoplasia type 1 ⚠
  • p.Pro291Arg Multiple submitters multiple endocrine neoplasia type 1 ⚠