Sugi Variant

Sugi Variant/TMEM127

TMEM127 — 886 ClinVar variants

All ClinVar germline TMEM127 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 431 flagged for review →

43 Pathogenic · 19 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 26 Conflicting · 26 Benign · 7 Benign/Likely benign · 199 Likely benign · 549 Uncertain significance

Full TMEM127 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 431

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 1

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

Predictors agree, ClinVar conflicts 6

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 181

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 181

Predictors split 240

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 240

All TMEM127 variants

Pathogenic 43

  • c.245-2A>G Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.410-1G>C Multiple submitters pheochromocytoma
  • c.410-2A>C Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ala150fs Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ala98fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg128_Tyr129insSerIleLeuLeuTer Multiple submitters hereditary neoplastic syndrome
  • p.Asn86fs Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Cys61fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln64Ter Multiple submitters hereditary neoplastic syndrome
  • p.Phe146fs Multiple submitters hereditary neoplastic syndrome
  • p.Phe83fs Multiple submitters hereditary neoplastic syndrome
  • p.Val68fs Multiple submitters hereditary neoplastic syndrome
  • p.Val75fs Multiple submitters hereditary neoplastic syndrome
  • p.Val90fs Multiple submitters hereditary neoplastic syndrome
  • c.244+1G>A Single submitter hereditary neoplastic syndrome
  • c.409+1G>C Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ala110fs Single submitter hereditary neoplastic syndrome
  • p.Ala130fs Single submitter hereditary neoplastic syndrome
  • p.Ala141fs Single submitter hereditary neoplastic syndrome
  • p.Arg127fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Gln158Ter Single submitter hereditary neoplastic syndrome
  • p.Gln160Ter Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Gln88Ter Single submitter hereditary neoplastic syndrome
  • p.Glu209Ter Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Glu50fs Single submitter hereditary neoplastic syndrome
  • p.Glu65Ter Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Gly58Ter Single submitter hereditary neoplastic syndrome
  • p.His161_Lys163delinsGlnHisLysTer Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ile41fs Single submitter hereditary neoplastic syndrome
  • p.Leu105fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Leu113fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Leu48fs Single submitter hereditary neoplastic syndrome
  • p.Leu91fs Single submitter hereditary neoplastic syndrome
  • p.Leu93fs Single submitter
  • p.Phe111fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Phe116fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Pro77fs Single submitter hereditary neoplastic syndrome
  • p.Ser107fs Single submitter hereditary neoplastic syndrome
  • p.Ser109fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Tyr129fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Tyr148fs Single submitter hereditary neoplastic syndrome
  • p.Val115fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Val95fs Single submitter hereditary neoplastic syndrome

Pathogenic/Likely pathogenic 19

  • c.245-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.245-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.245-1G>T Multiple submitters TMEM127-related disorder
  • c.409+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.410-2A>G Multiple submitters hereditary neoplastic syndrome
  • p.Gln139Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln157Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln159Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gly103fs Multiple submitters hereditary neoplastic syndrome
  • p.Gly73fs Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.His133fs Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Lys124Ter Multiple submitters hereditary neoplastic syndrome
  • p.Phe173fs Multiple submitters hereditary neoplastic syndrome
  • p.Phe177fs Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Thr89fs Multiple submitters hereditary neoplastic syndrome
  • p.Trp53Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr178fs Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Tyr178Ter Multiple submitters pheochromocytoma
  • p.Pro51fs No assertion criteria PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 8

Likely pathogenic 17

  • c.244+2T>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.245-2del Single submitter hereditary neoplastic syndrome
  • c.409+1_409+8del Single submitter hereditary neoplastic syndrome
  • c.409+1del Single submitter hereditary neoplastic syndrome
  • c.498_499insALU Single submitter hereditary neoplastic syndrome
  • p.Ala183fs Single submitter
  • p.Asp70fs Single submitter pheochromocytoma
  • p.Asp82Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu65fs Single submitter pheochromocytoma
  • p.Lys162fs Single submitter hereditary neoplastic syndrome
  • p.Ser187Ter Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Thr191fs Single submitter pheochromocytoma
  • p.Val171fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Cys140Arg No assertion criteria pheochromocytoma
  • p.Met214fs No assertion criteria pheochromocytoma
  • p.Ser62Ter No assertion criteria pheochromocytoma
  • p.Trp149Ter No assertion criteria pheochromocytoma

Conflicting classifications of pathogenicity 26

  • c.245-3C>T Single submitter hereditary neoplastic syndrome
  • c.245-5T>G Single submitter hereditary neoplastic syndrome
  • c.410-5C>T Single submitter hereditary neoplastic syndrome
  • c.410-6T>G Single submitter pheochromocytoma
  • c.410-7C>T Single submitter hereditary neoplastic syndrome
  • c.-131-7C>T Single submitter pheochromocytoma
  • p.Ala132Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala186Pro Single submitter Hereditary cancer ⚠
  • p.Ala222Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala98Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg197Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg94Gln Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Asn194= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Glu205fs Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Gly185Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.His133Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.His165Arg Single submitter hereditary neoplastic syndrome
  • p.Ile56Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu155Ter Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu48= Single submitter hereditary neoplastic syndrome
  • p.Leu80Pro Single submitter ovarian cancer ⚠
  • p.Thr136= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Thr191Met Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Thr46Ala Single submitter TMEM127-related disorder
  • p.Trp53Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Tyr199Ter Single submitter hereditary neoplastic syndrome ⚠

Benign 26

Benign/Likely benign 7

  • c.409+7C>T Multiple submitters hereditary neoplastic syndrome
  • c.*50C>T Multiple submitters pheochromocytoma
  • p.Asp70Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro18Leu Multiple submitters multiple mitochondrial dysfunctions syndrome 10
  • p.Thr142= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Tyr178= Multiple submitters hereditary neoplastic syndrome
  • p.Val90Met Multiple submitters hereditary neoplastic syndrome

Likely benign 199

  • c.245-4A>G Multiple submitters hereditary neoplastic syndrome
  • c.245-7T>C Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.409+8G>A Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ala122= Multiple submitters hereditary neoplastic syndrome
  • p.Ala156= Multiple submitters hereditary neoplastic syndrome
  • p.Ala174= Multiple submitters hereditary neoplastic syndrome
  • p.Ala181= Multiple submitters hereditary neoplastic syndrome
  • p.Ala183= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ala190= Multiple submitters hereditary neoplastic syndrome
  • p.Ala222= Multiple submitters hereditary neoplastic syndrome
  • p.Ala43= Multiple submitters hereditary neoplastic syndrome
  • p.Ala52= Multiple submitters hereditary neoplastic syndrome
  • p.Ala97= Multiple submitters hereditary neoplastic syndrome
  • p.Ala98= Multiple submitters hereditary neoplastic syndrome
  • p.Arg128= Multiple submitters hereditary neoplastic syndrome
  • p.Asn217= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Asn228= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Asp70= Multiple submitters hereditary neoplastic syndrome
  • p.Asp78= Multiple submitters hereditary neoplastic syndrome
  • p.Cys45= Multiple submitters hereditary neoplastic syndrome
  • p.Glu152= Multiple submitters hereditary neoplastic syndrome
  • p.Glu203= Multiple submitters hereditary neoplastic syndrome
  • p.Glu205= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Glu218= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Glu223= Multiple submitters hereditary neoplastic syndrome
  • p.Glu65= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Gly103= Multiple submitters hereditary neoplastic syndrome
  • p.Gly145= Multiple submitters hereditary neoplastic syndrome
  • p.Gly185= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.His133= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.His165= Multiple submitters hereditary neoplastic syndrome
  • p.His198= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.His55= Multiple submitters hereditary neoplastic syndrome
  • p.His57= Multiple submitters hereditary neoplastic syndrome
  • p.Ile125= Multiple submitters hereditary neoplastic syndrome
  • p.Ile134= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ile188= Multiple submitters hereditary neoplastic syndrome
  • p.Ile56= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ile96= Multiple submitters hereditary neoplastic syndrome
  • p.Leu105= Multiple submitters hereditary neoplastic syndrome
  • p.Leu108= Multiple submitters hereditary neoplastic syndrome
  • p.Leu155= Multiple submitters hereditary neoplastic syndrome
  • p.Leu179= Multiple submitters hereditary neoplastic syndrome
  • p.Leu189= Multiple submitters hereditary neoplastic syndrome
  • p.Leu195= Multiple submitters hereditary neoplastic syndrome
  • p.Leu196= Multiple submitters hereditary neoplastic syndrome
  • p.Leu211= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Leu66= Multiple submitters hereditary neoplastic syndrome
  • p.Leu80= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Leu92= Multiple submitters hereditary neoplastic syndrome
  • p.Lys162= Multiple submitters hereditary neoplastic syndrome
  • p.Lys163= Multiple submitters hereditary neoplastic syndrome
  • p.Phe101= Multiple submitters hereditary neoplastic syndrome
  • p.Phe111= Multiple submitters hereditary neoplastic syndrome
  • p.Phe116= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Phe131= Multiple submitters hereditary neoplastic syndrome
  • p.Phe146= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Phe173= Multiple submitters hereditary neoplastic syndrome
  • p.Phe230= Multiple submitters hereditary neoplastic syndrome
  • p.Phe99= Multiple submitters hereditary neoplastic syndrome
  • p.Pro121= Multiple submitters hereditary neoplastic syndrome
  • p.Pro200= Multiple submitters hereditary neoplastic syndrome
  • p.Pro219= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Pro221= Multiple submitters hereditary neoplastic syndrome
  • p.Pro233= Multiple submitters hereditary neoplastic syndrome
  • p.Pro234= Multiple submitters hereditary neoplastic syndrome
  • p.Pro51= Multiple submitters hereditary neoplastic syndrome
  • p.Pro77= Multiple submitters hereditary neoplastic syndrome
  • p.Pro87= Multiple submitters hereditary neoplastic syndrome
  • p.Ser109= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ser167= Multiple submitters hereditary neoplastic syndrome
  • p.Thr172= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Thr191= Multiple submitters hereditary neoplastic syndrome
  • p.Thr201= Multiple submitters hereditary neoplastic syndrome
  • p.Thr237= Multiple submitters hereditary neoplastic syndrome
  • p.Thr89= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr129= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr148= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr199= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr224= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr236= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Tyr74= Multiple submitters hereditary neoplastic syndrome
  • p.Val115= Multiple submitters hereditary neoplastic syndrome
  • p.Val137= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Val68= Multiple submitters hereditary neoplastic syndrome
  • c.244+10C>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.244+13C>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.244+13C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.244+14G>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.244+15C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.244+16G>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.244+17C>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.244+17C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.244+20G>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.244+6G>T Single submitter
  • c.244+7G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.244+7G>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.244+8T>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.245-10C>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.245-10C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.245-12C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.245-15G>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.245-16G>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.245-18T>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.245-20A>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.245-21_245-20dup Single submitter hereditary pheochromocytoma-paraganglioma
  • c.245-7T>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.245-7T>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.409+11A>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.409+12G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.409+16G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.409+17C>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.409+17C>T Single submitter
  • c.409+19C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.409+20A>G Single submitter
  • c.409+8G>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.409+9T>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.409+9T>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-10del Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-11_410-10del Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-12T>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-13C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-14_410-13dup Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-14C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-15C>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-17G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-18del Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-18T>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-19C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-27_410-13del Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-4C>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-4C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-6T>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-9G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*2291_*2292del Single submitter
  • c.*547G>A Single submitter
  • p.Ala110= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ala130= Single submitter hereditary neoplastic syndrome
  • p.Ala132= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ala150= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ala193= Single submitter hereditary neoplastic syndrome
  • p.Ala207= Single submitter hereditary neoplastic syndrome
  • p.Ala22Ser Single submitter hereditary neoplastic syndrome
  • p.Ala47= Single submitter hereditary neoplastic syndrome
  • p.Ala49= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Arg14= Single submitter hereditary neoplastic syndrome
  • p.Arg15= Single submitter hereditary neoplastic syndrome
  • p.Arg197= Single submitter hereditary neoplastic syndrome
  • p.Arg63= Single submitter hereditary neoplastic syndrome
  • p.Arg94= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Asn86= Single submitter hereditary neoplastic syndrome
  • p.Cys140= Single submitter hereditary neoplastic syndrome
  • p.Cys84= Single submitter hereditary neoplastic syndrome
  • p.Gln206= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Gln231= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Gln64= Single submitter hereditary neoplastic syndrome
  • p.Glu202= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Glu209= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Glu213= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Glu215= Single submitter hereditary neoplastic syndrome
  • p.Glu225= Single submitter hereditary neoplastic syndrome
  • p.Glu50= Single submitter hereditary neoplastic syndrome
  • p.Gly184= Single submitter hereditary neoplastic syndrome
  • p.Gly59= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Gly67= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.His76= Single submitter hereditary neoplastic syndrome
  • p.Ile104= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ile144= Single submitter hereditary neoplastic syndrome
  • p.Ile154= Single submitter hereditary neoplastic syndrome
  • p.Leu102= Single submitter hereditary neoplastic syndrome
  • p.Leu138= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Leu153= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Leu208= Single submitter hereditary neoplastic syndrome
  • p.Leu210= Single submitter hereditary neoplastic syndrome
  • p.Leu44= Single submitter hereditary neoplastic syndrome
  • p.Leu54= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Leu72= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Leu9= Single submitter hereditary neoplastic syndrome
  • p.Leu91= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Pro118= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Pro238= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Pro36= Single submitter hereditary neoplastic syndrome
  • p.Ser107= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ser147= Single submitter hereditary neoplastic syndrome
  • p.Ser151= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ser187= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ser212= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ser62= Single submitter hereditary neoplastic syndrome
  • p.Ser69= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Thr126= Single submitter hereditary neoplastic syndrome
  • p.Thr42= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Thr46= Single submitter hereditary neoplastic syndrome
  • p.Thr60= Single submitter hereditary neoplastic syndrome
  • p.Tyr164= Single submitter hereditary neoplastic syndrome
  • p.Tyr170= Single submitter hereditary neoplastic syndrome
  • p.Val169= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Val71= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Val75= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Val90= Single submitter hereditary pheochromocytoma-paraganglioma

Uncertain significance 549

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

  • c.244+3G>C Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.244+5G>A Multiple submitters hereditary neoplastic syndrome
  • p.Ala110Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala110Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala110Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala122Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala130Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala150Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala150Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala150Val Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala174Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala183Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala183Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala186Ser Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ala190Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala190Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala190Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala207Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala207Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala222Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala235Val Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala43Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala43Val Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala47Asp Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala47Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala49Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala52Asp Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala52Gly Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala52Ser Multiple submitters pheochromocytoma ⚠
  • p.Ala52Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala97Thr Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ala98Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg127Cys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Arg127His Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Arg127Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg128Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg128His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg197His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg63Cys Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Arg63His Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Arg63Leu Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Arg94Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn217fs Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Asp114His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys100Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Cys140Phe Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Cys45Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys61Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys61Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys84Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys84Phe Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Cys84Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln139Arg Multiple submitters pheochromocytoma ⚠
  • p.Gln157His Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Gln158Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln158Glu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Gln158Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln206Ter Multiple submitters pheochromocytoma
  • p.Gln231His Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Gln231Ter Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Gln64Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln64His Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Glu202Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu202Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu203Lys Multiple submitters ⚠
  • p.Glu204Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu205Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu205Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu209Val Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Glu213Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu215Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu215Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu218Gln Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Glu218Lys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Glu223Lys Multiple submitters pheochromocytoma ⚠
  • p.Glu225Asp Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Glu225Gly Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Glu50Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu65Gly Multiple submitters hereditary neoplastic syndrome
  • p.Gly103Asp Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Gly103Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Gly145Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly166Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly182Ala Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Gly182Glu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Gly184Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly185Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly58Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly59Asp Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Gly67Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly73Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly73Asp Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.His120Arg Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.His161Arg Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.His161Asn Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.His57Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His57Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His76Tyr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ile104Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile125Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile134Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile134Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ile144Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile144Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ile154Met Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ile188Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile227Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile56Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile96Met Multiple submitters hereditary neoplastic syndrome
  • p.Leu102Arg Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Leu105Arg Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Leu105Pro Multiple submitters pheochromocytoma ⚠
  • p.Leu108Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu112Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu112Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Leu113Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu135Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu135Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Leu138Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu189Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Leu189Val Multiple submitters hereditary neoplastic syndrome
  • p.Leu195Phe Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Leu195Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu44Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu48Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu66Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu66Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu72Met Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Leu80Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu91Gln Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Leu91Met Multiple submitters hereditary neoplastic syndrome
  • p.Leu93Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu93Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys124Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys162Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met214Leu Multiple submitters hereditary neoplastic syndrome
  • p.Met85Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe101_Leu102insCysPhe Multiple submitters hereditary neoplastic syndrome
  • p.Phe101Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe111Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe111Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe173Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe230Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro118Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro118Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro118Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro200Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Pro200Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro219Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro219His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro221Ala Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Pro221Leu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Pro232Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro233His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro233Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Pro234Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro234Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro234Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro238Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro238Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro51Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro51Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro77Arg Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Pro77Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro77Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Pro87Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser109Phe Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ser109Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser151Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ser167Cys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ser167Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser176Gly Multiple submitters hereditary neoplastic syndrome
  • p.Ser176Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser187Leu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ser62Leu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ser69Phe Multiple submitters hereditary neoplastic syndrome
  • p.Ser69Pro Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Thr136Arg Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Thr136Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr142Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr142Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr142Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr172Ile Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Thr201Ala Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Thr237Ile Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Thr46Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Thr60Asn Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Thr60Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr89Ile Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Trp53Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Trp53Gly Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Tyr148Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Tyr164His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Tyr199Phe Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Tyr220Cys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Tyr220His Multiple submitters pheochromocytoma
  • p.Tyr224Cys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Tyr74Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Tyr74Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val115Ile Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Val143Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val169Asp Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Val175Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val180Leu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Val226Ala Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Val71Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val71Leu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Val71Met Multiple submitters pheochromocytoma ⚠
  • p.Val75Met Multiple submitters hereditary neoplastic syndrome ⚠
  • c.244+6G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.245-1443C>T Single submitter hereditary neoplastic syndrome
  • c.245-1567del Single submitter hereditary neoplastic syndrome
  • c.245-1574_245-1573delinsTT Single submitter hereditary neoplastic syndrome
  • c.245-4A>C Single submitter hereditary neoplastic syndrome
  • c.245-6C>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.409+4A>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.409+5G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-111C>T Single submitter hereditary neoplastic syndrome
  • c.410-265_625del Single submitter hereditary pheochromocytoma-paraganglioma
  • c.410-3T>G Single submitter hereditary neoplastic syndrome
  • c.-114C>T Single submitter pheochromocytoma
  • c.-196C>T Single submitter pheochromocytoma
  • c.-220T>C Single submitter pheochromocytoma
  • c.-242G>A Single submitter pheochromocytoma
  • c.-2G>T Single submitter hereditary neoplastic syndrome
  • c.-37A>G Single submitter pheochromocytoma
  • c.-5C>T Single submitter hereditary neoplastic syndrome
  • c.*1178A>G Single submitter pheochromocytoma
  • c.*1197T>C Single submitter pheochromocytoma
  • c.*1252C>G Single submitter pheochromocytoma
  • c.*1257C>G Single submitter pheochromocytoma
  • c.*1406G>A Single submitter pheochromocytoma
  • c.*1620C>T Single submitter pheochromocytoma
  • c.*1638G>C Single submitter pheochromocytoma
  • c.*16C>G Single submitter pheochromocytoma
  • c.*1784C>T Single submitter pheochromocytoma
  • c.*179C>T Single submitter pheochromocytoma
  • c.*1819C>A Single submitter pheochromocytoma
  • c.*1819C>G Single submitter pheochromocytoma
  • c.*1822T>C Single submitter pheochromocytoma
  • c.*1849T>G Single submitter pheochromocytoma
  • c.*1879G>A Single submitter pheochromocytoma
  • c.*2121G>T Single submitter pheochromocytoma
  • c.*2128C>A Single submitter pheochromocytoma
  • c.*2171C>T Single submitter pheochromocytoma
  • c.*2245A>G Single submitter pheochromocytoma
  • c.*2299C>T Single submitter pheochromocytoma
  • c.*2411C>A Single submitter pheochromocytoma
  • c.*2445G>T Single submitter pheochromocytoma
  • c.*2503C>T Single submitter pheochromocytoma
  • c.*2518C>A Single submitter pheochromocytoma
  • c.*2548T>C Single submitter pheochromocytoma
  • c.*2563G>A Single submitter pheochromocytoma
  • c.*2642C>T Single submitter pheochromocytoma
  • c.*2684C>G Single submitter pheochromocytoma
  • c.*2719G>A Single submitter pheochromocytoma
  • c.*2760A>C Single submitter pheochromocytoma
  • c.*2800T>G Single submitter pheochromocytoma
  • c.*2860A>G Single submitter pheochromocytoma
  • c.*2875A>G Single submitter pheochromocytoma
  • c.*2911C>T Single submitter pheochromocytoma
  • c.*3025G>C Single submitter pheochromocytoma
  • c.*3049T>C Single submitter pheochromocytoma
  • c.*3134C>T Single submitter pheochromocytoma
  • c.*3271A>G Single submitter pheochromocytoma
  • c.*3348G>C Single submitter pheochromocytoma
  • c.*3391G>A Single submitter pheochromocytoma
  • c.*3396G>A Single submitter pheochromocytoma
  • c.*340G>A Single submitter pheochromocytoma
  • c.*3560G>T Single submitter pheochromocytoma
  • c.*3568C>G Single submitter pheochromocytoma
  • c.*612C>T Single submitter pheochromocytoma
  • c.*662G>A Single submitter pheochromocytoma
  • c.*866C>T Single submitter pheochromocytoma
  • c.*883C>G Single submitter pheochromocytoma
  • c.*980G>A Single submitter pheochromocytoma
  • c.*980G>C Single submitter pheochromocytoma
  • p.Ala110Gly Single submitter hereditary neoplastic syndrome
  • p.Ala110Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala122Val Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ala130Asp Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala130Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala132Ser Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ala132Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala150Gly Single submitter pheochromocytoma ⚠
  • p.Ala150Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala156Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala174Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala181fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ala181Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala183Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala183Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala186Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala190Asp Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala190Ser Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala190Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala192Ser Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala192Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala192Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala193Thr Single submitter hereditary pheochromocytoma-paraganglioma ⚠