MAX — 558 ClinVar variants

All ClinVar germline MAX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 216 flagged for review →

31 Pathogenic · 4 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 22 Conflicting · 30 Benign · 26 Benign/Likely benign · 158 Likely benign · 277 Uncertain significance

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

⚑ Evidence disagreements 216

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 agree, ClinVar conflicts 8

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

MAX p.Ala133Thr Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Arg25Trp Conflicting Single submitter
hereditary neoplastic syndrome
MAX p.Arg60Gln Conflicting Single submitter
MAX-related disorder
MAX p.Asn114Thr Conflicting Single submitter
hereditary neoplastic syndrome
MAX p.Gln19Leu Conflicting Single submitter
MAX-related disorder
MAX p.Leu102Pro Conflicting Single submitter
hereditary neoplastic syndrome
MAX p.Leu46Trp Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Tyr115Cys Conflicting Single submitter
hereditary neoplastic syndrome

Predicted LoF vs a conflicting call 1

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.

MAX c.296-1G>A Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma

Predictors lean, ClinVar uncertain 164

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 164

MAX p.Ala105Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Ala109Thr Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Ala126Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Ala159Thr Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Ala22Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Ala61Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Ala93Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Arg100Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Arg100His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Arg156Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Arg47Gln Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Arg47Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Arg75Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Arg90Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Asn114Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Asn120Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Asp119Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Asp139Glu Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Asp87Asn Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Gln110Glu Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Gln19His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Gln82Glu Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Glu103Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Glu13Gly Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Glu143Asp Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Glu14Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Gly128Ser Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.His79Asn Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.His81Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Ile131Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Ile85Val Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Leu111Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Leu111Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Leu111Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Leu53Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Leu94Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Leu94Val Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Leu95Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Lys127Arg Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Lys24Arg Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Lys66Glu Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Lys89Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Lys89Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Met74Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Pro116Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Pro116Ser Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Pro146Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Pro149Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Pro16Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Pro16Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Pro51Leu Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Ser108Asn Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Ser117Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Ser118Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Ser129Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Ser141Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Ser144Pro Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Ser42Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Thr113Ser Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Thr130Ala Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Tyr70Cys Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Tyr73Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Val50Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Ala101Thr Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ala105Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Ala126Ser Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ala21Val Uncertain significance Single submitter
MAX p.Ala58Thr Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ala58Val Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ala61Ser Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ala61Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Ala67Val Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ala93Pro Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Arg156Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Arg17Gly Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Arg17Lys Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Arg17Thr Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Arg33Gln Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Arg35Cys Uncertain significance Single submitter
MAX p.Arg35His Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Arg47Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Arg60Trp Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Arg76Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Arg90Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Arg90Pro Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Asn120Tyr Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Asn125Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Asn125Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Asn78Lys Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Asn92Ser Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Asp119Asn Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Asp119Gly Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Asp23Asn Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Asp23Val Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Asp37Asn Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Asp3His Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Asp48Asn Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Asp84Asn Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Asp84Tyr Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Gln110His Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Gln112Arg Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Gln112His Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Gln150Arg Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Gln15His Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Gln72His Uncertain significance Single submitter
MAX p.Gln82Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Gln82His Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Gln97Glu Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Gln97Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Glu103Val Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Glu10Asp Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Glu143Gln Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Glu143Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Glu158Gly Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Glu56Asp Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Glu56Gln Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Gly137Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.His81Arg Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.His81Asn Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.His81Gln Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ile131Met Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Ile39Val Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ile85Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Leu122His Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Leu122Ile Uncertain significance Single submitter
pheochromocytoma
MAX p.Leu122Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Leu46Phe Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Leu64Pro Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Leu88Val Uncertain significance Single submitter
MAX p.Leu94Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Lys104Arg Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Lys153Asn Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Lys153Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Lys154Glu Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Lys57Met Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Lys66Asn Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Lys89Glu Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Met157Ile Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Met74Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Phe43Val Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Pro116Ala Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Pro146Ala Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Pro146Arg Uncertain significance Single submitter
MAX-related disorder
MAX p.Pro146Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Pro149Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Pro149Thr Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Pro51Ala Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ser107Leu Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ser117Phe Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ser121Thr Uncertain significance Single submitter
hereditary neoplastic syndrome

Predictors split 43

The independent predictors disagree with each other — read with care.

MAX p.Arg156Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Arg90Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Asp135Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Asp135Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Asp135His Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Asp65Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Gln98Arg Uncertain significance Multiple submitters
MAX p.Gly136Arg Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Gly136Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Gly137Asp Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Leu94Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Lys66Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Phe18Ile Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Pro16Leu Uncertain significance Multiple submitters
pheochromocytoma
MAX p.Ser142Leu Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
MAX p.Ser20Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Ser45Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MAX p.Arg152Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Arg152Ser Uncertain significance Single submitter
MAX p.Asn125His Uncertain significance Single submitter
pheochromocytoma
MAX p.Asp135Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Asp139Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Asp139Val Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Gln110Pro Conflicting Single submitter
hereditary neoplastic syndrome
MAX p.Gln54Arg Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Glu10Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Glu147Lys Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Gly137Arg Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Gly137Val Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.His79Tyr Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ile63Phe Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ile7Phe Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Leu111Pro Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Lys77Arg Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Phe18Val Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ser108Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Ser117Cys Uncertain significance Single submitter
MAX p.Ser121Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Ser129Arg Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ser138Leu Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Ser142Pro Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
MAX p.Thr124Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
MAX p.Tyr123Cys Uncertain significance Single submitter
hereditary neoplastic syndrome

All MAX variants

Pathogenic 31

c.295+1G>A Multiple submitters hereditary pheochromocytoma-paraganglioma
c.295+1G>T Multiple submitters hereditary neoplastic syndrome
p.Arg33Ter Multiple submitters hereditary neoplastic syndrome
p.Arg75Ter Multiple submitters hereditary neoplastic syndrome
p.Gln91Ter Multiple submitters hereditary neoplastic syndrome
p.Gln97Ter Multiple submitters hereditary pheochromocytoma-paraganglioma
c.171+2T>G Single submitter hereditary neoplastic syndrome
c.172-2A>G Single submitter hereditary neoplastic syndrome
c.295+2_295+3del Single submitter hereditary pheochromocytoma-paraganglioma
c.36+732del Single submitter hereditary pheochromocytoma-paraganglioma
c.64-2A>G Single submitter hereditary neoplastic syndrome
p.Ala58fs Single submitter hereditary neoplastic syndrome
p.Arg35fs Single submitter hereditary neoplastic syndrome
p.Asp41fs Single submitter hereditary pheochromocytoma-paraganglioma
p.Gln62fs Single submitter hereditary pheochromocytoma-paraganglioma
p.Gln82fs Single submitter hereditary pheochromocytoma-paraganglioma
p.Gln82Ter Single submitter hereditary neoplastic syndrome
p.Glu13fs Single submitter hereditary pheochromocytoma-paraganglioma
p.Glu69fs Single submitter hereditary pheochromocytoma-paraganglioma
p.His38fs Single submitter hereditary pheochromocytoma-paraganglioma
p.His79fs Single submitter hereditary pheochromocytoma-paraganglioma
p.Ile71fs Single submitter hereditary pheochromocytoma-paraganglioma
p.Leu31fs Single submitter hereditary pheochromocytoma-paraganglioma
p.Lys57Ter Single submitter hereditary neoplastic syndrome
p.Met1Val Single submitter hereditary neoplastic syndrome
p.Ser107Ter Single submitter hereditary neoplastic syndrome
p.Ser42fs Single submitter hereditary neoplastic syndrome
p.Ser49Ter Single submitter hereditary pheochromocytoma-paraganglioma
p.Tyr70Ter Single submitter hereditary neoplastic syndrome
p.Tyr73Ter Single submitter hereditary pheochromocytoma-paraganglioma
p.Ile63fs No assertion criteria MULTIPLE ENDOCRINE NEOPLASIA, TYPE V

Pathogenic/Likely pathogenic 4

p.Ala67Asp Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Asn78fs Multiple submitters hereditary neoplastic syndrome
p.Gln19Ter Multiple submitters pheochromocytoma
p.Lys34Ter Multiple submitters hereditary pheochromocytoma-paraganglioma

Likely pathogenic 10

c.171+1G>A Single submitter hereditary neoplastic syndrome
c.171+2T>A Single submitter hereditary neoplastic syndrome
c.296-1G>T Single submitter hereditary neoplastic syndrome
c.37-2A>C Single submitter hereditary pheochromocytoma-paraganglioma
c.64-2A>T Single submitter hereditary pheochromocytoma-paraganglioma
p.Ile71Asn Single submitter hereditary neoplastic syndrome
p.Leu88fs Single submitter
p.Lys104fs Single submitter hereditary pheochromocytoma-paraganglioma
p.Met74Val Single submitter hereditary neoplastic syndrome
p.Ser117fs Single submitter hereditary neoplastic syndrome

Conflicting classifications of pathogenicity 22

c.171+4A>G Single submitter hereditary neoplastic syndrome
c.171+6T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.172-6230G>A Single submitter pheochromocytoma
c.296-1G>A Single submitter hereditary pheochromocytoma-paraganglioma ⚠
c.37-6T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.*8G>A Single submitter pheochromocytoma
p.Ala133Thr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ala22= Single submitter hereditary neoplastic syndrome
p.Arg25Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg60Gln Single submitter MAX-related disorder ⚠
p.Asn114Thr Single submitter hereditary neoplastic syndrome ⚠
p.Asp135= Single submitter hereditary neoplastic syndrome
p.Gln110Pro Single submitter hereditary neoplastic syndrome ⚠
p.Gln19= Single submitter hereditary neoplastic syndrome
p.Gln19Leu Single submitter MAX-related disorder ⚠
p.Leu102Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu111= Single submitter hereditary neoplastic syndrome
p.Leu46Trp Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Phe134= Single submitter hereditary neoplastic syndrome
p.Ser138Leu Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Thr113= Single submitter hereditary pheochromocytoma-paraganglioma
p.Tyr115Cys Single submitter hereditary neoplastic syndrome ⚠

Benign 30

c.171+231T>A Multiple submitters
c.172-6062A>T Multiple submitters
c.295+181G>A Multiple submitters
c.295+264G>T Multiple submitters
c.63+49C>T Multiple submitters
c.*92G>A Multiple submitters
c.172-171A>T Single submitter
c.172-322G>A Single submitter
c.172-6112T>A Single submitter
c.37-273G>A Single submitter
c.-98G>T Single submitter pheochromocytoma
c.*1123A>C Single submitter pheochromocytoma
c.*1127G>C Single submitter
c.*128T>A Single submitter pheochromocytoma
c.*144C>T Single submitter pheochromocytoma
c.*248A>T Single submitter pheochromocytoma
c.*297C>T Single submitter pheochromocytoma
c.*344T>A Single submitter pheochromocytoma
c.*375G>A Single submitter pheochromocytoma
c.*404C>T Single submitter
c.*565G>A Single submitter
c.*587G>A Single submitter
c.*616C>T Single submitter pheochromocytoma
c.*65G>C Single submitter pheochromocytoma
c.*700G>T Single submitter pheochromocytoma
c.*717T>C Single submitter
c.*8_*10delinsCTT Single submitter pheochromocytoma
c.*9G>C Single submitter pheochromocytoma
p.Arg25= Single submitter pheochromocytoma
p.Asp119= Single submitter pheochromocytoma

Benign/Likely benign 26

c.295+10C>T Multiple submitters hereditary pheochromocytoma-paraganglioma
c.37-15del Multiple submitters hereditary pheochromocytoma-paraganglioma
c.37-15dup Multiple submitters hereditary neoplastic syndrome
c.37-4C>T Multiple submitters hereditary neoplastic syndrome
c.*7C>T Multiple submitters pheochromocytoma
p.Ala105= Multiple submitters hereditary neoplastic syndrome
p.Ala109= Multiple submitters pheochromocytoma
p.Ala93= Multiple submitters hereditary neoplastic syndrome
p.Arg47= Multiple submitters hereditary neoplastic syndrome
p.Asn125= Multiple submitters hereditary neoplastic syndrome
p.Asn29= Multiple submitters hereditary neoplastic syndrome
p.Asp86= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Asp87= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Gln110= Multiple submitters hereditary neoplastic syndrome
p.Gln97= Multiple submitters pheochromocytoma
p.Glu13= Multiple submitters pheochromocytoma
p.Glu143= Multiple submitters hereditary neoplastic syndrome
p.His28= Multiple submitters hereditary neoplastic syndrome
p.Leu122= Multiple submitters pheochromocytoma
p.Lys34= Multiple submitters hereditary neoplastic syndrome
p.Pro146= Multiple submitters hereditary neoplastic syndrome
p.Pro51= Multiple submitters hereditary neoplastic syndrome
p.Ser121= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Ser142= Multiple submitters hereditary neoplastic syndrome
p.Ser59= Multiple submitters hereditary neoplastic syndrome
p.Val50= Multiple submitters hereditary neoplastic syndrome

Likely benign 158

c.171+20T>C Multiple submitters hereditary pheochromocytoma-paraganglioma
c.171+9C>T Multiple submitters hereditary pheochromocytoma-paraganglioma
c.172-12A>G Multiple submitters hereditary pheochromocytoma-paraganglioma
c.172-16T>C Multiple submitters hereditary pheochromocytoma-paraganglioma
c.172-7G>A Multiple submitters hereditary pheochromocytoma-paraganglioma
c.295+10C>G Multiple submitters pheochromocytoma
c.295+6C>T Multiple submitters hereditary pheochromocytoma-paraganglioma
c.295+8C>G Multiple submitters hereditary pheochromocytoma-paraganglioma
c.295+9C>T Multiple submitters pheochromocytoma
c.296-13G>C Multiple submitters pheochromocytoma
c.296-15T>C Multiple submitters hereditary pheochromocytoma-paraganglioma
c.296-18C>T Multiple submitters pheochromocytoma
c.296-589A>C Multiple submitters
c.37-10C>T Multiple submitters pheochromocytoma
c.63+10C>G Multiple submitters pheochromocytoma
c.63+67G>A Multiple submitters
c.63+7C>T Multiple submitters pheochromocytoma
c.63+8T>C Multiple submitters hereditary pheochromocytoma-paraganglioma
c.63+9C>T Multiple submitters pheochromocytoma
c.64-11C>T Multiple submitters pheochromocytoma
c.64-4C>T Multiple submitters hereditary neoplastic syndrome
p.Ala101= Multiple submitters hereditary neoplastic syndrome
p.Ala126= Multiple submitters hereditary neoplastic syndrome
p.Arg152= Multiple submitters hereditary neoplastic syndrome
p.Arg17= Multiple submitters hereditary neoplastic syndrome
p.Arg75= Multiple submitters hereditary neoplastic syndrome
p.Arg90= Multiple submitters hereditary neoplastic syndrome
p.Asn92= Multiple submitters hereditary neoplastic syndrome
p.Gln112= Multiple submitters hereditary neoplastic syndrome
p.Gln150= Multiple submitters hereditary neoplastic syndrome
p.Glu103= Multiple submitters hereditary neoplastic syndrome
p.Glu145= Multiple submitters hereditary neoplastic syndrome
p.Glu148= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Glu158= Multiple submitters hereditary neoplastic syndrome
p.Gly128= Multiple submitters hereditary neoplastic syndrome
p.Gly136= Multiple submitters hereditary neoplastic syndrome
p.Gly137= Multiple submitters hereditary neoplastic syndrome
p.Ile63= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Ile71= Multiple submitters hereditary neoplastic syndrome
p.Leu102= Multiple submitters hereditary neoplastic syndrome
p.Leu31= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Leu46= Multiple submitters hereditary neoplastic syndrome
p.Leu53= Multiple submitters hereditary neoplastic syndrome
p.Leu88= Multiple submitters hereditary neoplastic syndrome
p.Leu94= Multiple submitters hereditary neoplastic syndrome
p.Lys104= Multiple submitters hereditary neoplastic syndrome
p.Lys154= Multiple submitters hereditary neoplastic syndrome
p.Lys89= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Pro149= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Ser107= Multiple submitters hereditary neoplastic syndrome
p.Ser144= Multiple submitters hereditary neoplastic syndrome
p.Ser42= Multiple submitters hereditary neoplastic syndrome
p.Thr124= Multiple submitters hereditary neoplastic syndrome
p.Thr130= Multiple submitters hereditary neoplastic syndrome
p.Tyr115= Multiple submitters hereditary neoplastic syndrome
p.Tyr123= Multiple submitters hereditary neoplastic syndrome
p.Val99= Multiple submitters hereditary neoplastic syndrome
c.171+15A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.171+16A>C Single submitter hereditary pheochromocytoma-paraganglioma
c.171+18G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.171+19C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.171+36A>G Single submitter
c.171+9C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.172-10_172-9del Single submitter hereditary pheochromocytoma-paraganglioma
c.172-13C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.172-14T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.172-15C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.172-167del Single submitter
c.172-17T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.172-189_172-188del Single submitter
c.172-196C>T Single submitter
c.172-4A>G Single submitter hereditary neoplastic syndrome
c.172-5876C>T Single submitter
c.172-5C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.172-6189C>T Single submitter
c.172-61C>T Single submitter
c.172-6278_172-6277del Single submitter pheochromocytoma
c.172-6443T>A Single submitter
c.295+11G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.295+11G>C Single submitter hereditary pheochromocytoma-paraganglioma
c.295+11G>T Single submitter hereditary pheochromocytoma-paraganglioma
c.295+14C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.295+14C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.295+16C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.295+16C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.295+17G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.295+19G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.295+47C>T Single submitter
c.295+8C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.296-11T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.296-12G>C Single submitter hereditary pheochromocytoma-paraganglioma
c.296-14T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.296-15T>A Single submitter hereditary pheochromocytoma-paraganglioma
c.296-16C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.296-17C>T Single submitter pheochromocytoma
c.296-19_296-17del Single submitter hereditary pheochromocytoma-paraganglioma
c.296-20C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.296-20C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.296-25AC[2] Single submitter hereditary pheochromocytoma-paraganglioma
c.296-4T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.37-10C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.37-12_37-9del Single submitter hereditary pheochromocytoma-paraganglioma
c.37-12C>T Single submitter hereditary neoplastic syndrome
c.37-15T>C Single submitter
c.37-16T>C Single submitter
c.37-21_37-15del Single submitter
c.37-4C>A Single submitter hereditary pheochromocytoma-paraganglioma
c.37-4C>G Single submitter hereditary neoplastic syndrome
c.37-7A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.37-7A>T Single submitter hereditary pheochromocytoma-paraganglioma
c.63+10del Single submitter hereditary pheochromocytoma-paraganglioma
c.63+9C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.64-10A>T Single submitter hereditary pheochromocytoma-paraganglioma
c.64-16dup Single submitter hereditary pheochromocytoma-paraganglioma
c.64-17_64-3dup Single submitter hereditary pheochromocytoma-paraganglioma
c.64-19C>A Single submitter hereditary pheochromocytoma-paraganglioma
c.64-4C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.64-6T>G Single submitter hereditary pheochromocytoma-paraganglioma
c.64-7C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.64-8T>A Single submitter hereditary pheochromocytoma-paraganglioma
c.*405G>A Single submitter
c.*44G>A Single submitter pheochromocytoma
p.Ala133= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ala26= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ala30= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ala61= Single submitter hereditary neoplastic syndrome
p.Ala67= Single submitter hereditary neoplastic syndrome
p.Arg100= Single submitter hereditary neoplastic syndrome
p.Arg106= Single submitter hereditary neoplastic syndrome
p.Arg35= Single submitter hereditary neoplastic syndrome
p.Arg36= Single submitter hereditary neoplastic syndrome
p.Asn120= Single submitter hereditary neoplastic syndrome
p.Asp41= Single submitter hereditary neoplastic syndrome
p.Asp84= Single submitter hereditary neoplastic syndrome
p.Gln15= Single submitter hereditary pheochromocytoma-paraganglioma
p.Gln54= Single submitter hereditary pheochromocytoma-paraganglioma
p.Gln72= Single submitter hereditary pheochromocytoma-paraganglioma
p.Glu14= Single submitter hereditary neoplastic syndrome
p.Glu32= Single submitter hereditary neoplastic syndrome
p.Glu69= Single submitter hereditary neoplastic syndrome
p.Glu96= Single submitter hereditary pheochromocytoma-paraganglioma
p.His38= Single submitter hereditary neoplastic syndrome
p.His79= Single submitter hereditary neoplastic syndrome
p.Ile39= Single submitter hereditary neoplastic syndrome
p.Leu155= Single submitter hereditary neoplastic syndrome
p.Lys153= Single submitter hereditary pheochromocytoma-paraganglioma
p.Phe43= Single submitter hereditary neoplastic syndrome
p.Pro116= Single submitter hereditary neoplastic syndrome
p.Pro16= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ser117= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ser118= Single submitter hereditary neoplastic syndrome
p.Ser129= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ser138= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ser20= Single submitter hereditary neoplastic syndrome
p.Thr80= Single submitter hereditary neoplastic syndrome
p.Tyr115Phe Single submitter hereditary neoplastic syndrome
p.Tyr70= Single submitter hereditary neoplastic syndrome
c.295+544C>T No assertion criteria MAX-related disorder

Uncertain significance 277

c.63+4C>T Multiple submitters hereditary neoplastic syndrome
p.Ala105Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala109Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ala126Asp Multiple submitters hereditary neoplastic syndrome
p.Ala126Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala133Val Multiple submitters hereditary neoplastic syndrome
p.Ala159Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ala22Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala61Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala93Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg100Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg100His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg156Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg156Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg47Gln Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Arg47Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg75Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg90Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg90Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn114Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn120Lys Multiple submitters hereditary neoplastic syndrome
p.Asn120Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp119Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp135Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp135Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp135His Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Asp139Asn Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Asp139Glu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Asp65Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp87Asn Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Gln110Glu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Gln19His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln54His Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Gln82Glu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Gln98Arg Multiple submitters ⚠
p.Glu103Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu13Gly Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Glu143Asp Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Glu14Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly128Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Gly136Arg Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Gly136Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly137Asp Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.His44Tyr Multiple submitters hereditary neoplastic syndrome
p.His79Asn Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.His81Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile131Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile85Val Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Leu111Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu111Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu111Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu53Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu94Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu94Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu94Val Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Leu95Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys127Arg Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Lys24Arg Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Lys66Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys66Glu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Lys89Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys89Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Met74Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe18Ile Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Pro116Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro116Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Pro146Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro149Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro16Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro16Leu Multiple submitters pheochromocytoma ⚠
p.Pro16Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro51Leu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ser108Asn Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ser117Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser118Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser129Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser141Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser142Leu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ser144Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ser20Phe Multiple submitters hereditary neoplastic syndrome
p.Ser20Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser42Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser45Asn Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Ser45Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr113Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Thr130Ala Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Tyr70Cys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Tyr73Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Val50Ile Multiple submitters hereditary neoplastic syndrome ⚠
c.171+19C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.171+5G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.171+6T>A Single submitter hereditary pheochromocytoma-paraganglioma
c.172-5C>T Single submitter hereditary neoplastic syndrome
c.172-6166A>G Single submitter pheochromocytoma
c.172-6198C>G Single submitter
c.172-6254del Single submitter pheochromocytoma
c.172-6265_172-6260delinsGCTC Single submitter
c.295+3G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.295+3G>T Single submitter hereditary pheochromocytoma-paraganglioma
c.37-3_37-2insG Single submitter hereditary pheochromocytoma-paraganglioma
c.37-3C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.37-9_37-8del Single submitter
c.63+3A>G Single submitter hereditary neoplastic syndrome
c.63+6T>A Single submitter hereditary pheochromocytoma-paraganglioma
c.64-20_64-19delinsAT Single submitter hereditary pheochromocytoma-paraganglioma
c.64-3T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.-110A>T Single submitter pheochromocytoma
c.-127G>A Single submitter pheochromocytoma
c.-152TG[8] Single submitter
c.-211C>G Single submitter pheochromocytoma
c.-80G>A Single submitter pheochromocytoma
c.*1023C>T Single submitter pheochromocytoma
c.*1035C>T Single submitter pheochromocytoma
c.*1229C>T Single submitter pheochromocytoma
c.*1276G>C Single submitter pheochromocytoma
c.*1278C>T Single submitter pheochromocytoma
c.*1285T>C Single submitter pheochromocytoma
c.*1308C>T Single submitter pheochromocytoma
c.*169T>C Single submitter pheochromocytoma
c.*170C>T Single submitter pheochromocytoma
c.*2C>T Single submitter MAX-related disorder
c.*320T>G Single submitter pheochromocytoma
c.*374C>T Single submitter
c.*503T>G Single submitter pheochromocytoma
c.*534G>A Single submitter pheochromocytoma
c.*678C>T Single submitter pheochromocytoma
c.*873T>C Single submitter pheochromocytoma
c.*942C>T Single submitter pheochromocytoma
c.*943G>A Single submitter pheochromocytoma
c.*96C>G Single submitter pheochromocytoma
p.Ala101Thr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ala105Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala126Ser Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ala159fs Single submitter hereditary neoplastic syndrome
p.Ala21= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ala21Val Single submitter ⚠
p.Ala58Thr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ala58Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ala61Ser Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ala61Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala67Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ala93Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg106Thr Single submitter hereditary neoplastic syndrome
p.Arg152Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg152Ser Single submitter ⚠
p.Arg156Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg17Gly Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg17Lys Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg17Thr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg33Gln Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg35Cys Single submitter ⚠
p.Arg35His Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg47Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg60Trp Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg76Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg90Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg90Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asn120Ter Single submitter hereditary neoplastic syndrome
p.Asn120Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asn125His Single submitter pheochromocytoma ⚠
p.Asn125Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn125Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn125Tyr Single submitter hereditary pheochromocytoma-paraganglioma
p.Asn78Lys Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asn92Ser Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp119Asn Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp119Gly Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp135Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp139Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp139Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp23Asn Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp23Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp37Asn Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp3His Single submitter hereditary neoplastic syndrome ⚠
p.Asp48Asn Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp84Asn Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp84Tyr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Gln110His Single submitter hereditary neoplastic syndrome ⚠
p.Gln112Arg Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Gln112His Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Gln112Ter Single submitter hereditary pheochromocytoma-paraganglioma
p.Gln150Arg Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Gln15His Single submitter hereditary neoplastic syndrome ⚠
p.Gln19fs Single submitter hereditary neoplastic syndrome
p.Gln54Arg Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Gln72His Single submitter ⚠
p.Gln82Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln82His Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Gln83Arg Single submitter hereditary neoplastic syndrome
p.Gln97Glu Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Gln97Pro Single submitter hereditary neoplastic syndrome ⚠
p.Glu103Val Single submitter hereditary neoplastic syndrome ⚠
p.Glu10Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu10Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu143Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu143Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu145Lys Single submitter
p.Glu147Lys Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Glu148fs Single submitter hereditary pheochromocytoma-paraganglioma
p.Glu158Gly Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Glu56Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu56Gln Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Glu69_Tyr70delinsAsp Single submitter hereditary pheochromocytoma-paraganglioma
p.Gly137Arg Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Gly137fs Single submitter hereditary pheochromocytoma-paraganglioma
p.Gly137Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly137Val Single submitter hereditary neoplastic syndrome ⚠
p.His79Tyr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.His81Arg Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.His81Asn Single submitter hereditary neoplastic syndrome ⚠
p.His81Gln Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ile131Met Single submitter hereditary neoplastic syndrome ⚠
p.Ile39Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ile63Phe Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ile7Phe Single submitter hereditary neoplastic syndrome ⚠
p.Ile85Thr Single submitter hereditary neoplastic syndrome ⚠
p.Leu111Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Leu122His Single submitter hereditary neoplastic syndrome ⚠
p.Leu122Ile Single submitter pheochromocytoma ⚠
p.Leu122Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu46Phe Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Leu64Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Leu88Val Single submitter ⚠
p.Leu94Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu95= Single submitter hereditary pheochromocytoma-paraganglioma
p.Lys104Arg Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Lys104Ter Single submitter hereditary pheochromocytoma-paraganglioma
p.Lys153Asn Single submitter hereditary neoplastic syndrome ⚠
p.Lys153Glu Single submitter hereditary neoplastic syndrome ⚠
p.Lys154Glu Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Lys57= Single submitter hereditary pheochromocytoma-paraganglioma
p.Lys57Met Single submitter hereditary neoplastic syndrome ⚠
p.Lys66Asn Single submitter hereditary neoplastic syndrome ⚠
p.Lys77Arg Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Lys89Glu Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Met157Ile Single submitter hereditary neoplastic syndrome ⚠
p.Met74Thr Single submitter hereditary neoplastic syndrome ⚠
p.Phe18Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Phe43Val Single submitter hereditary neoplastic syndrome ⚠
p.Pro116Ala Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Pro146Ala Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Pro146Arg Single submitter MAX-related disorder ⚠
p.Pro146Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro149Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro149Thr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Pro51Ala Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ser107Leu Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ser108Arg Single submitter hereditary neoplastic syndrome ⚠
p.Ser117Cys Single submitter ⚠
p.Ser117Phe Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ser118Ter Single submitter hereditary pheochromocytoma-paraganglioma
p.Ser121Arg Single submitter hereditary neoplastic syndrome ⚠
p.Ser121Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ser129Arg Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ser129Cys Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ser138Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ser140Cys Single submitter hereditary neoplastic syndrome ⚠
p.Ser140Phe Single submitter hereditary neoplastic syndrome
p.Ser141Asn Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ser142Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ser151Arg Single submitter hereditary neoplastic syndrome
p.Ser151Asn Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ser160fs Single submitter hereditary pheochromocytoma-paraganglioma
p.Ser160Gly Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ser160Ile Single submitter hereditary neoplastic syndrome
p.Ser20Tyr Single submitter hereditary pheochromocytoma-paraganglioma
p.Ser42Asn Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ser42Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ser59Cys Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Thr124Ala Single submitter ⚠
p.Thr124Pro Single submitter hereditary neoplastic syndrome ⚠
p.Thr130Ile Single submitter hereditary neoplastic syndrome ⚠
p.Tyr115Asn Single submitter hereditary neoplastic syndrome ⚠
p.Tyr115His Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Tyr123Cys Single submitter hereditary neoplastic syndrome ⚠
p.Tyr70His Single submitter hereditary pheochromocytoma-paraganglioma ⚠
c.172-6151A>G No assertion criteria MAX-related disorder