Sugi Variant

Sugi Variant/SDHB

SDHB — 1418 ClinVar variants

All ClinVar germline SDHB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 624 flagged for review →

143 Pathogenic · 54 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 82 Conflicting · 41 Benign · 79 Benign/Likely benign · 314 Likely benign · 649 Uncertain significance

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

⚑ Evidence disagreements 624

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 44

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

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.

Predictors lean, ClinVar uncertain 316

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 316

Predictors split 263

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

All SDHB variants

Pathogenic 143

  • c.200+1G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.201-2A>C Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.286+1G>A Multiple submitters Inherited phaeochromocytoma and paraganglioma excluding NF1
  • c.286+2T>A Multiple submitters hereditary neoplastic syndrome
  • c.287-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.423+1G>A Multiple submitters pheochromocytoma
  • c.423+1G>C Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.423+1G>T Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.642+1G>A Multiple submitters gastrointestinal stromal tumor
  • p.Ala112fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala15delinsHisSerProTer Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Ala15fs Multiple submitters Inherited phaeochromocytoma and paraganglioma excluding NF1
  • p.Ala190fs Multiple submitters Inherited phaeochromocytoma and paraganglioma excluding NF1
  • p.Arg115Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg230fs Multiple submitters pheochromocytoma
  • p.Arg27Ter Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Arg46Gly Multiple submitters hereditary neoplastic syndrome
  • p.Arg46Ter Multiple submitters gastrointestinal stromal tumor
  • p.Arg90Ter Multiple submitters hereditary neoplastic syndrome
  • p.Asn104fs Multiple submitters SDHB-related disorder
  • p.Asp138fs Multiple submitters pheochromocytoma
  • p.Asp161fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp204fs Multiple submitters gastrointestinal stromal tumor
  • p.Cys192Arg Multiple submitters Carney-Stratakis syndrome
  • p.Cys196Tyr Multiple submitters gastrointestinal stromal tumor
  • p.Gln164fs Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Gln168Ter Multiple submitters gastrointestinal stromal tumor
  • p.Gln169Ter Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Gln30fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln30Ter Multiple submitters pheochromocytoma
  • p.Glu185Ter Multiple submitters gastrointestinal stromal tumor
  • p.Glu82fs Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Gly203fs Multiple submitters gastrointestinal stromal tumor
  • p.Gly203Ter Multiple submitters hereditary neoplastic syndrome
  • p.Ile127fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu111fs Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Leu180fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu207fs Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Leu240fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu65Pro Multiple submitters hereditary neoplastic syndrome
  • p.Leu9Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys126Ter Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Lys255fs Multiple submitters pheochromocytoma
  • p.Met1Ile Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Met1Leu Multiple submitters gastrointestinal stromal tumor
  • p.Met1Val Multiple submitters pheochromocytoma
  • p.Met71fs Multiple submitters hereditary neoplastic syndrome
  • p.Phe238fs Multiple submitters gastrointestinal stromal tumor
  • p.Pro14_Ala15insSerProTer Multiple submitters pheochromocytoma
  • p.Pro56fs Multiple submitters Carney-Stratakis syndrome
  • p.Ser125Ter Multiple submitters hereditary neoplastic syndrome
  • p.Ser198fs Multiple submitters SDHB-related disorder
  • p.Ser239fs Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Thr227fs Multiple submitters pheochromocytoma
  • p.Trp218Ter Multiple submitters gastrointestinal stromal tumor
  • p.Trp47Ter Multiple submitters gastrointestinal stromal tumor
  • p.Tyr156_Leu157insTer Multiple submitters hereditary neoplastic syndrome
  • c.200+1G>C Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.201-1G>A Single submitter hereditary neoplastic syndrome
  • c.558_642+276del Single submitter pheochromocytoma
  • c.642+1G>C Single submitter hereditary neoplastic syndrome
  • c.743_765+36del Single submitter gastrointestinal stromal tumor
  • c.761_765+33del Single submitter pheochromocytoma
  • p.Ala102fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ala148fs Single submitter hereditary neoplastic syndrome
  • p.Ala15delinsProSerProTer Single submitter hereditary neoplastic syndrome
  • p.Arg223_Asp224insTer Single submitter pheochromocytoma
  • p.Arg251fs Single submitter pheochromocytoma
  • p.Arg38fs Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Arg91Ter Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Asn104Ser Single submitter Inherited phaeochromocytoma and paraganglioma excluding NF1
  • p.Asn109fs Single submitter gastrointestinal stromal tumor
  • p.Asp138Gly Single submitter pheochromocytoma
  • p.Asp221fs Single submitter renal cell carcinoma
  • p.Asp236_Pro237insAspTer Single submitter pheochromocytoma
  • p.Asp48fs Single submitter pheochromocytoma
  • p.Asp64fs Single submitter gastrointestinal stromal tumor
  • p.Asp84fs Single submitter gastrointestinal stromal tumor
  • p.Cys113Ser Single submitter gastrointestinal stromal tumor
  • p.Cys113Tyr Single submitter gastrointestinal stromal tumor
  • p.Cys186Tyr Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Cys189fs Single submitter hereditary neoplastic syndrome
  • p.Cys243Arg Single submitter hereditary neoplastic syndrome
  • p.Cys253fs Single submitter pheochromocytoma
  • p.Cys93Ter Single submitter hereditary neoplastic syndrome
  • p.Gln149fs Single submitter pheochromocytoma
  • p.Gln235Ter Single submitter pheochromocytoma
  • p.Gln59Ter Single submitter hereditary neoplastic syndrome
  • p.Glu162Ter Single submitter pheochromocytoma
  • p.Glu165fs Single submitter pheochromocytoma
  • p.Glu175fs Single submitter hereditary neoplastic syndrome
  • p.Glu176Ter Single submitter hereditary neoplastic syndrome
  • p.Glu228fs Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Glu229fs Single submitter gastrointestinal stromal tumor
  • p.Glu95fs Single submitter Inherited phaeochromocytoma and paraganglioma excluding NF1
  • p.Gly208fs Single submitter pheochromocytoma
  • p.Ile246fs Single submitter pheochromocytoma
  • p.Leu13fs Single submitter pheochromocytoma
  • p.Leu23fs Single submitter hereditary neoplastic syndrome
  • p.Leu7fs Single submitter hereditary neoplastic syndrome
  • p.Leu87Ter Single submitter pheochromocytoma
  • p.Lys158fs Single submitter pheochromocytoma
  • p.Lys158Ter Single submitter pheochromocytoma
  • p.Lys167fs Single submitter pheochromocytoma
  • p.Lys167Ter Single submitter gastrointestinal stromal tumor
  • p.Lys233Ter Single submitter gastrointestinal stromal tumor
  • p.Lys51fs Single submitter pheochromocytoma
  • p.Phe226fs Single submitter pheochromocytoma
  • p.Phe42fs Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Pro131fs Single submitter gastrointestinal stromal tumor
  • p.Pro254fs Single submitter hereditary neoplastic syndrome
  • p.Pro49fs Single submitter pheochromocytoma
  • p.Ser26fs Single submitter gastrointestinal stromal tumor
  • p.Ser85fs Single submitter pheochromocytoma
  • p.Ser8fs Single submitter gastrointestinal stromal tumor
  • p.Trp200fs Single submitter pheochromocytoma
  • p.Trp201Ter Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Trp47fs Single submitter pheochromocytoma
  • p.Tyr128Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr134fs Single submitter pheochromocytoma
  • p.Tyr134Ter Single submitter pheochromocytoma
  • p.Tyr147Ter Single submitter gastrointestinal stromal tumor
  • p.Tyr150Ter Single submitter gastrointestinal stromal tumor
  • p.Tyr156fs Single submitter pheochromocytoma
  • p.Tyr170fs Single submitter pheochromocytoma
  • p.Tyr170Ter Single submitter pheochromocytoma
  • p.Tyr199fs Single submitter hereditary neoplastic syndrome
  • p.Tyr199Ter Single submitter
  • p.Tyr241Ter Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Tyr45Ter Single submitter pheochromocytoma
  • p.Tyr61Ter Single submitter pheochromocytoma
  • p.Val140fs Single submitter pheochromocytoma
  • p.Val83Ter Single submitter gastrointestinal stromal tumor
  • c.1_843del No assertion criteria hereditary pheochromocytoma-paraganglioma
  • c.201-4429_287-934del No assertion criteria pheochromocytoma/paraganglioma syndrome 4
  • c.73_846del No assertion criteria hereditary pheochromocytoma-paraganglioma
  • c.(-151_-1 No assertion criteria pheochromocytoma/paraganglioma syndrome 4
  • p.Gln164Ter No assertion criteria hereditary pheochromocytoma-paraganglioma
  • p.Ile153_Glu154insTer No assertion criteria SDHB-related disorder
  • p.Pro254_Lys255insTer No assertion criteria hereditary pheochromocytoma-paraganglioma
  • p.Ser92Pro No assertion criteria hereditary pheochromocytoma-paraganglioma
  • p.Ser92Ter No assertion criteria hereditary pheochromocytoma-paraganglioma
  • p.Val124fs No assertion criteria hereditary pheochromocytoma-paraganglioma

Pathogenic/Likely pathogenic 54

  • c.201-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.287-1G>C Multiple submitters gastrointestinal stromal tumor
  • c.287-3C>G Multiple submitters gastrointestinal stromal tumor
  • c.424-1G>A Multiple submitters gastrointestinal stromal tumor
  • c.424-2A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.541-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.541-2A>G Multiple submitters Carney-Stratakis syndrome
  • c.642_642+6del Multiple submitters gastrointestinal stromal tumor
  • c.642+1G>T Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.642+2T>G Multiple submitters gastrointestinal stromal tumor
  • c.73-1G>A Multiple submitters gastrointestinal stromal tumor
  • c.765+1G>A Multiple submitters pheochromocytoma
  • p.Ala262fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg217Cys Multiple submitters mitochondrial complex 2 deficiency, nuclear type 4
  • p.Arg217Gly Multiple submitters gastrointestinal stromal tumor
  • p.Arg217Leu Multiple submitters pheochromocytoma
  • p.Arg217Ser Multiple submitters hereditary neoplastic syndrome
  • p.Arg230Cys Multiple submitters hereditary neoplastic syndrome
  • p.Arg230His Multiple submitters mitochondrial complex 2 deficiency, nuclear type 4
  • p.Arg230Leu Multiple submitters hereditary neoplastic syndrome
  • p.Arg242Cys Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Arg242His Multiple submitters mitochondrial complex 2 deficiency, nuclear type 4
  • p.Arg242Ser Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Arg46Gln Multiple submitters Carney-Stratakis syndrome
  • p.Arg46Leu Multiple submitters gastrointestinal stromal tumor
  • p.Asn202fs Multiple submitters gastrointestinal stromal tumor
  • p.Asp74Ala Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Cys189Phe Multiple submitters gastrointestinal stromal tumor
  • p.Cys191Tyr Multiple submitters hereditary neoplastic syndrome
  • p.Cys192Tyr Multiple submitters gastrointestinal stromal tumor
  • p.Cys253Tyr Multiple submitters hereditary neoplastic syndrome
  • p.Cys68Tyr Multiple submitters gastrointestinal stromal tumor
  • p.Cys93Arg Multiple submitters gastrointestinal stromal tumor
  • p.Cys93Tyr Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Cys98Arg Multiple submitters pheochromocytoma
  • p.Cys98Tyr Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Gln149Ter Multiple submitters gastrointestinal stromal tumor
  • p.Gln214Arg Multiple submitters gastrointestinal stromal tumor
  • p.Gln214Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gly208Glu Multiple submitters hereditary neoplastic syndrome
  • p.Gly69Val Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Gly96Asp Multiple submitters gastrointestinal stromal tumor
  • p.Gly96Ser Multiple submitters Inherited phaeochromocytoma and paraganglioma excluding NF1
  • p.Gly99Asp Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.His132Pro Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Ile127Ser Multiple submitters Carney-Stratakis syndrome
  • p.Leu87Ser Multiple submitters hereditary neoplastic syndrome
  • p.Lys40Glu Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Met213fs Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Pro197Arg Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Trp200Cys Multiple submitters Carney-Stratakis syndrome
  • p.Trp200Ter Multiple submitters hereditary neoplastic syndrome
  • p.Val140Phe Multiple submitters mitochondrial complex 2 deficiency, nuclear type 4
  • c.540_540+13del Single submitter pheochromocytoma/paraganglioma syndrome 4

Likely pathogenic 56

  • c.200+5G>T Multiple submitters hereditary neoplastic syndrome
  • c.540+1G>A Multiple submitters gastrointestinal stromal tumor
  • c.643-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.73-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.73-2A>C Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.73-2A>T Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ala43Pro Multiple submitters hereditary neoplastic syndrome
  • p.Asn248Lys Multiple submitters gastrointestinal stromal tumor
  • p.Asp138Tyr Multiple submitters hereditary neoplastic syndrome
  • p.Cys189Tyr Multiple submitters pheochromocytoma
  • p.Cys243Trp Multiple submitters pheochromocytoma
  • p.Cys249Tyr Multiple submitters hereditary neoplastic syndrome
  • p.Gly208Arg Multiple submitters hereditary neoplastic syndrome
  • p.Ile263fs Multiple submitters gastrointestinal stromal tumor
  • p.Leu139Pro Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Leu180= Multiple submitters hereditary neoplastic syndrome
  • p.Lys261fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro197Ser Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Trp200Arg Multiple submitters hereditary neoplastic syndrome
  • c.1_765del Single submitter hereditary pheochromocytoma-paraganglioma
  • c.200+3G>C Single submitter hereditary neoplastic syndrome
  • c.201-?_765+?dup Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.251_252insALU Single submitter hereditary neoplastic syndrome
  • c.256_257insALU Single submitter hereditary neoplastic syndrome
  • c.286+2T>C Single submitter hereditary neoplastic syndrome
  • c.287_540del Single submitter hereditary pheochromocytoma-paraganglioma
  • c.287-10_295del Single submitter pheochromocytoma
  • c.424-79_424-2del Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.541-2_543del Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.73-2A>G Single submitter hereditary neoplastic syndrome
  • c.756_765+4del Single submitter gastrointestinal stromal tumor
  • p.Arg217Pro Single submitter hereditary neoplastic syndrome
  • p.Arg230Gly Single submitter hereditary neoplastic syndrome
  • p.Asn258fs Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Asp74Gly Single submitter pheochromocytoma
  • p.Asp74Val Single submitter hereditary neoplastic syndrome
  • p.Cys101Tyr Single submitter hereditary neoplastic syndrome
  • p.Cys189Trp Single submitter gastrointestinal stromal tumor
  • p.Cys196Arg Single submitter gastrointestinal stromal tumor
  • p.Cys196Trp Single submitter hereditary neoplastic syndrome
  • p.Cys243Phe Single submitter hereditary neoplastic syndrome
  • p.Cys68Phe Single submitter hereditary neoplastic syndrome
  • p.Gly28fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Leu234Pro Single submitter hereditary neoplastic syndrome
  • p.Leu65His Single submitter hereditary neoplastic syndrome
  • p.Lys160fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Lys268_Met269insTer Single submitter hereditary neoplastic syndrome
  • p.Met269fs Single submitter hereditary neoplastic syndrome
  • p.Pro129Arg Single submitter hereditary neoplastic syndrome
  • p.Thr86_Leu87insPhe Single submitter pheochromocytoma
  • p.Thr86del Single submitter hereditary neoplastic syndrome
  • p.Trp218Ser Single submitter hereditary neoplastic syndrome
  • c.766-2A>T No assertion criteria Paragangliome / Pheochromocytome
  • p.Ile117fs No assertion criteria hereditary pheochromocytoma-paraganglioma
  • p.Ile44_Trp47delinsArg No assertion criteria pheochromocytoma
  • p.Leu76Ter No assertion criteria pheochromocytoma

Conflicting classifications of pathogenicity 82

  • c.200+4A>C Single submitter hereditary neoplastic syndrome
  • c.200+5G>C Single submitter gastrointestinal stromal tumor
  • c.287-6T>C Single submitter gastrointestinal stromal tumor
  • c.287-7C>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.423+20T>A Single submitter gastrointestinal stromal tumor
  • c.423+2T>C Single submitter hereditary neoplastic syndrome ⚠
  • c.424-16_424-14dup Single submitter pheochromocytoma
  • c.424-5C>G Single submitter hereditary neoplastic syndrome
  • c.424-6dup Single submitter pheochromocytoma
  • c.424-9T>G Single submitter pheochromocytoma
  • c.541-10C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.541-3C>T Single submitter hereditary neoplastic syndrome
  • c.541-6A>G Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.73-29del Single submitter hereditary neoplastic syndrome
  • c.73-6T>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.73-8A>G Single submitter hereditary neoplastic syndrome
  • c.765+4C>T Single submitter hereditary neoplastic syndrome
  • c.765+5G>A Single submitter gastrointestinal stromal tumor
  • c.765+6T>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.-13del Single submitter hereditary pheochromocytoma-paraganglioma
  • c.-6G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.-8G>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*6T>G Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Ala33Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg10Lys Single submitter gastrointestinal stromal tumor ⚠
  • p.Arg217His Single submitter gastrointestinal stromal tumor ⚠
  • p.Arg27Gly Single submitter gastrointestinal stromal tumor ⚠
  • p.Arg38His Single submitter pheochromocytoma/paraganglioma syndrome 4 ⚠
  • p.Arg90Gln Single submitter pheochromocytoma/paraganglioma syndrome 4 ⚠
  • p.Arg90Leu Single submitter gastrointestinal stromal tumor ⚠
  • p.Arg94Lys Single submitter pheochromocytoma/paraganglioma syndrome 4 ⚠
  • p.Asn122Ser Single submitter pheochromocytoma ⚠
  • p.Asp118Tyr Single submitter gastrointestinal stromal tumor ⚠
  • p.Asp236Glu Single submitter ovarian cancer ⚠
  • p.Asp48= Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Asp48Val Single submitter mitochondrial complex 2 deficiency, nuclear type 4 ⚠
  • p.Cys113Gly Single submitter SDHB-related disorder ⚠
  • p.Cys189Arg Single submitter pheochromocytoma ⚠
  • p.Cys192Ser Single submitter pheochromocytoma ⚠
  • p.Cys249Arg Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Cys249Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys68Arg Single submitter pheochromocytoma ⚠
  • p.Cys93Phe Single submitter gastrointestinal stromal tumor ⚠
  • p.Gln214His Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly260Arg Single submitter gastrointestinal stromal tumor ⚠
  • p.Gly96Cys Single submitter gastrointestinal stromal tumor ⚠
  • p.Gly96Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile136Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Ile44Thr Single submitter Inherited renal cancer ⚠
  • p.Ile97Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu111Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu111Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Leu139Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu180Pro Single submitter pheochromocytoma ⚠
  • p.Leu212His Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Leu212Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu212Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Leu257Val Single submitter mitochondrial complex 2 deficiency, nuclear type 4 ⚠
  • p.Leu7Val Single submitter pheochromocytoma
  • p.Lys123= Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Lys137= Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Lys137Glu Single submitter gastrointestinal stromal tumor ⚠
  • p.Lys40Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys67= Single submitter hereditary neoplastic syndrome
  • p.Lys80Glu Single submitter gastrointestinal stromal tumor ⚠
  • p.Met103Val Single submitter pheochromocytoma/paraganglioma syndrome 4 ⚠
  • p.Met71Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro237Ser Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Pro254Arg Single submitter pheochromocytoma ⚠
  • p.Pro254Leu Single submitter gastrointestinal stromal tumor ⚠
  • p.Ser100Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser152Phe Single submitter gastrointestinal stromal tumor ⚠
  • p.Ser163Pro Single submitter pheochromocytoma ⚠
  • p.Thr16Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr60Ala Single submitter pheochromocytoma/paraganglioma syndrome 4 ⚠
  • p.Trp218Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Tyr134= Single submitter hereditary neoplastic syndrome
  • p.Tyr147Cys Single submitter mitochondrial complex 2 deficiency, nuclear type 4 ⚠
  • p.Tyr199Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Val140Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Val63Ile Single submitter gastrointestinal stromal tumor ⚠
  • p.Val83Ile Single submitter hereditary neoplastic syndrome ⚠

Benign 41

Benign/Likely benign 79

  • c.287-4T>C Multiple submitters gastrointestinal stromal tumor
  • c.424-37TTC[10] Multiple submitters mitochondrial complex 2 deficiency, nuclear type 4
  • c.424-37TTC[11] Multiple submitters gastrointestinal stromal tumor
  • c.424-37TTC[5] Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.424-37TTC[6] Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.424-37TTC[7] Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.643-20_643-18dup Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.765+13G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.-37T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Ala232= Multiple submitters hereditary neoplastic syndrome
  • p.Ala25= Multiple submitters pheochromocytoma
  • p.Ala32= Multiple submitters hereditary neoplastic syndrome
  • p.Ala3Gly Multiple submitters Carney-Stratakis syndrome ⚠
  • p.Ala6= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Arg11= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Arg11His Multiple submitters paraganglioma ⚠
  • p.Arg230= Multiple submitters hereditary neoplastic syndrome
  • p.Arg251= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Arg91= Multiple submitters pheochromocytoma
  • p.Asn104= Multiple submitters gastrointestinal stromal tumor
  • p.Asn109= Multiple submitters hereditary neoplastic syndrome
  • p.Asn202= Multiple submitters hereditary neoplastic syndrome
  • p.Asp181= Multiple submitters mitochondrial complex 2 deficiency, nuclear type 4
  • p.Asp204= Multiple submitters hereditary neoplastic syndrome
  • p.Asp221= Multiple submitters pheochromocytoma
  • p.Asp236= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Asp84= Multiple submitters pheochromocytoma
  • p.Cys113= Multiple submitters gastrointestinal stromal tumor
  • p.Cys243= Multiple submitters hereditary neoplastic syndrome
  • p.Cys68= Multiple submitters hereditary neoplastic syndrome
  • p.Cys93= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Gln149= Multiple submitters gastrointestinal stromal tumor
  • p.Gln169= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Gln172= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Gln235= Multiple submitters pheochromocytoma
  • p.Glu185= Multiple submitters hereditary neoplastic syndrome
  • p.Gly182= Multiple submitters hereditary neoplastic syndrome
  • p.Gly256= Multiple submitters gastrointestinal stromal tumor
  • p.Gly28= Multiple submitters gastrointestinal stromal tumor
  • p.Gly53Glu Multiple submitters Carney-Stratakis syndrome ⚠
  • p.Gly69= Multiple submitters gastrointestinal stromal tumor
  • p.His132= Multiple submitters hereditary neoplastic syndrome
  • p.His57= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.His57Arg Multiple submitters gastrointestinal stromal tumor
  • p.Ile246= Multiple submitters hereditary neoplastic syndrome
  • p.Ile263= Multiple submitters hereditary neoplastic syndrome
  • p.Ile97= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Leu139= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Leu171= Multiple submitters hereditary neoplastic syndrome
  • p.Leu188= Multiple submitters pheochromocytoma
  • p.Leu207= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Leu212= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Leu234= Multiple submitters hereditary neoplastic syndrome
  • p.Leu240= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Leu7= Multiple submitters hereditary neoplastic syndrome
  • p.Lys160= Multiple submitters hereditary neoplastic syndrome
  • p.Lys167= Multiple submitters gastrointestinal stromal tumor
  • p.Lys179= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Lys261= Multiple submitters gastrointestinal stromal tumor
  • p.Lys276= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Lys41= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Phe226= Multiple submitters gastrointestinal stromal tumor
  • p.Phe89= Multiple submitters gastrointestinal stromal tumor
  • p.Pro14= Multiple submitters hereditary neoplastic syndrome
  • p.Pro254= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Ser100= Multiple submitters gastrointestinal stromal tumor
  • p.Ser152= Multiple submitters hereditary neoplastic syndrome
  • p.Ser173= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Ser26= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Ser8= Multiple submitters hereditary neoplastic syndrome
  • p.Thr119= Multiple submitters hereditary neoplastic syndrome
  • p.Thr194= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Thr88= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr156= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr170= Multiple submitters pheochromocytoma
  • p.Tyr184= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr199= Multiple submitters gastrointestinal stromal tumor
  • p.Tyr273= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Tyr61= Multiple submitters pheochromocytoma/paraganglioma syndrome 4

Likely benign 314

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

  • c.200+7A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.200+9C>A Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.201-10T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.201-18G>A Multiple submitters gastrointestinal stromal tumor
  • c.201-18G>T Multiple submitters gastrointestinal stromal tumor
  • c.201-4T>A Multiple submitters hereditary neoplastic syndrome
  • c.201-6T>C Multiple submitters pheochromocytoma
  • c.201-9C>T Multiple submitters pheochromocytoma
  • c.286+16C>T Multiple submitters gastrointestinal stromal tumor
  • c.286+18G>A Multiple submitters gastrointestinal stromal tumor
  • c.286+9T>G Multiple submitters pheochromocytoma
  • c.287-12T>C Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.287-13G>A Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.287-16T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.287-8T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.287-9C>G Multiple submitters pheochromocytoma
  • c.423+15CT[2] Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.423+8T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.424-11C>G Multiple submitters gastrointestinal stromal tumor
  • c.424-13_424-11dup Multiple submitters gastrointestinal stromal tumor
  • c.424-13del Multiple submitters pheochromocytoma
  • c.424-14_424-9del Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.424-14_424-9dup Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.424-19T>C Multiple submitters gastrointestinal stromal tumor
  • c.424-6C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.540+15T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.540+8G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.541-14_541-13del Multiple submitters gastrointestinal stromal tumor
  • c.541-14T>C Multiple submitters pheochromocytoma
  • c.541-18_541-8dup Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.541-30_541-2dup Multiple submitters pheochromocytoma
  • c.541-4A>T Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.541-5T>C Multiple submitters hereditary neoplastic syndrome
  • c.541-7C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.541-8C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.541-9C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.642+10T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.642+10T>G Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.642+15A>G Multiple submitters gastrointestinal stromal tumor
  • c.642+17T>C Multiple submitters hereditary neoplastic syndrome
  • c.642+7T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.642+8G>A Multiple submitters pheochromocytoma
  • c.642+9C>T Multiple submitters pheochromocytoma
  • c.643-15T>C Multiple submitters pheochromocytoma
  • c.643-16A>G Multiple submitters pheochromocytoma
  • c.643-4C>G Multiple submitters gastrointestinal stromal tumor
  • c.643-7T>C Multiple submitters gastrointestinal stromal tumor
  • c.73-10A>C Multiple submitters gastrointestinal stromal tumor
  • c.73-11A>C Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.73-13T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.73-7A>C Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • c.765+9G>T Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Ala102= Multiple submitters hereditary neoplastic syndrome
  • p.Ala148= Multiple submitters pheochromocytoma
  • p.Ala215= Multiple submitters hereditary neoplastic syndrome
  • p.Ala264= Multiple submitters pheochromocytoma
  • p.Ala278= Multiple submitters hereditary neoplastic syndrome
  • p.Ala43= Multiple submitters pheochromocytoma
  • p.Asn81= Multiple submitters pheochromocytoma
  • p.Asp142= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Asp224= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Asp225= Multiple submitters hereditary neoplastic syndrome
  • p.Asp54= Multiple submitters hereditary neoplastic syndrome
  • p.Cys186= Multiple submitters gastrointestinal stromal tumor
  • p.Cys196= Multiple submitters gastrointestinal stromal tumor
  • p.Gln164= Multiple submitters hereditary neoplastic syndrome
  • p.Glu178= Multiple submitters hereditary neoplastic syndrome
  • p.Glu228= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Glu62= Multiple submitters gastrointestinal stromal tumor
  • p.Gly203= Multiple submitters hereditary neoplastic syndrome
  • p.Gly208= Multiple submitters hereditary neoplastic syndrome
  • p.Ile105= Multiple submitters hereditary neoplastic syndrome
  • p.Ile117= Multiple submitters pheochromocytoma
  • p.Ile153= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ile220= Multiple submitters hereditary neoplastic syndrome
  • p.Ile266= Multiple submitters pheochromocytoma
  • p.Leu157= Multiple submitters hereditary neoplastic syndrome
  • p.Leu231= Multiple submitters pheochromocytoma
  • p.Leu73= Multiple submitters pheochromocytoma
  • p.Lys159= Multiple submitters hereditary neoplastic syndrome
  • p.Lys233= Multiple submitters pheochromocytoma
  • p.Lys51= Multiple submitters hereditary neoplastic syndrome
  • p.Lys78= Multiple submitters hereditary neoplastic syndrome
  • p.Pro141= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Pro155= Multiple submitters hereditary neoplastic syndrome
  • p.Pro237= Multiple submitters hereditary neoplastic syndrome
  • p.Pro259= Multiple submitters pheochromocytoma
  • p.Pro37= Multiple submitters pheochromocytoma
  • p.Ser239= Multiple submitters pheochromocytoma
  • p.Thr272= Multiple submitters gastrointestinal stromal tumor
  • p.Thr31= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr206= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr241= Multiple submitters pheochromocytoma/paraganglioma syndrome 4
  • p.Val5= Multiple submitters hereditary neoplastic syndrome
  • c.200+11C>T Single submitter pheochromocytoma
  • c.200+18A>T Single submitter pheochromocytoma
  • c.200+19G>A Single submitter pheochromocytoma
  • c.200+20C>T Single submitter pheochromocytoma
  • c.200+44A>C Single submitter
  • c.200+8T>G Single submitter pheochromocytoma
  • c.201-15A>G Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.201-16T>C Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.201-17A>G Single submitter gastrointestinal stromal tumor
  • c.201-20T>C Single submitter pheochromocytoma
  • c.201-29_201-14delinsTTGTTTGTAAC Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.201-5G>A Single submitter pheochromocytoma
  • c.201-7T>G Single submitter pheochromocytoma
  • c.286+15C>T Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.286+17T>C Single submitter pheochromocytoma
  • c.286+18G>C Single submitter gastrointestinal stromal tumor
  • c.286+18G>T Single submitter gastrointestinal stromal tumor
  • c.286+7A>G Single submitter gastrointestinal stromal tumor
  • c.286+8T>C Single submitter pheochromocytoma
  • c.287-11G>A Single submitter gastrointestinal stromal tumor
  • c.287-15G>A Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.287-15G>C Single submitter pheochromocytoma
  • c.287-20_287-18del Single submitter pheochromocytoma
  • c.287-20T>A Single submitter pheochromocytoma
  • c.287-26A>G Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.287-40G>T Single submitter
  • c.287-4del Single submitter gastrointestinal stromal tumor
  • c.287-9C>A Single submitter pheochromocytoma
  • c.287-9C>T Single submitter pheochromocytoma
  • c.423+10T>G Single submitter gastrointestinal stromal tumor
  • c.423+11G>A Single submitter pheochromocytoma
  • c.423+11G>T Single submitter gastrointestinal stromal tumor
  • c.423+12C>T Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.423+13A>G Single submitter pheochromocytoma
  • c.423+17C>T Single submitter gastrointestinal stromal tumor
  • c.423+18T>G Single submitter gastrointestinal stromal tumor
  • c.423+19C>G Single submitter pheochromocytoma
  • c.423+19C>T Single submitter pheochromocytoma
  • c.423+20T>C Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.423+260G>A Single submitter hereditary neoplastic syndrome
  • c.423+28T>C Single submitter
  • c.423+46G>C Single submitter
  • c.423+7T>C Single submitter pheochromocytoma
  • c.423+8T>G Single submitter pheochromocytoma
  • c.423+9C>G Single submitter pheochromocytoma
  • c.423+9C>T Single submitter gastrointestinal stromal tumor
  • c.424-10T>G Single submitter pheochromocytoma
  • c.424-12T>C Single submitter pheochromocytoma
  • c.424-13C>G Single submitter pheochromocytoma
  • c.424-13C>T Single submitter pheochromocytoma
  • c.424-14_424-13insCTC Single submitter pheochromocytoma
  • c.424-16T>C Single submitter pheochromocytoma
  • c.424-16T>G Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.424-17_424-9del Single submitter pheochromocytoma
  • c.424-170T>G Single submitter hereditary neoplastic syndrome
  • c.424-20C>A Single submitter gastrointestinal stromal tumor
  • c.424-20C>T Single submitter pheochromocytoma
  • c.424-4A>G Single submitter pheochromocytoma
  • c.424-5C>T Single submitter pheochromocytoma
  • c.424-7A>C Single submitter gastrointestinal stromal tumor
  • c.424-7A>T Single submitter pheochromocytoma
  • c.540+10C>G Single submitter pheochromocytoma
  • c.540+10C>T Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.540+11C>G Single submitter pheochromocytoma
  • c.540+12C>G Single submitter gastrointestinal stromal tumor
  • c.540+12C>T Single submitter gastrointestinal stromal tumor
  • c.540+13T>C Single submitter gastrointestinal stromal tumor
  • c.540+16T>C Single submitter pheochromocytoma
  • c.540+17_540+20del Single submitter pheochromocytoma
  • c.540+31G>A Single submitter
  • c.540+41T>C Single submitter
  • c.540+9T>G Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.541-11T>C Single submitter gastrointestinal stromal tumor
  • c.541-11T>G Single submitter
  • c.541-12C>T Single submitter pheochromocytoma
  • c.541-13_541-12insGCTCCTGCCTCTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCGGCGGTCGGGCGGCGGCGGCTGCGC Single submitter pheochromocytoma
  • c.541-15T>G Single submitter pheochromocytoma
  • c.541-16T>G Single submitter pheochromocytoma
  • c.541-17C>G Single submitter pheochromocytoma
  • c.541-19C>G Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.541-21CT[2] Single submitter pheochromocytoma
  • c.541-32C>G Single submitter
  • c.541-36G>A Single submitter
  • c.541-6A>T Single submitter gastrointestinal stromal tumor
  • c.541-7C>G Single submitter pheochromocytoma
  • c.541-8C>G Single submitter pheochromocytoma
  • c.642+10T>A Single submitter pheochromocytoma
  • c.642+11C>T Single submitter gastrointestinal stromal tumor
  • c.642+14_642+25del Single submitter gastrointestinal stromal tumor
  • c.642+14T>C Single submitter gastrointestinal stromal tumor
  • c.642+19G>A Single submitter
  • c.642+20C>A Single submitter pheochromocytoma
  • c.642+20C>G Single submitter pheochromocytoma
  • c.642+47C>T Single submitter
  • c.642+9C>G Single submitter gastrointestinal stromal tumor
  • c.643-10G>T Single submitter pheochromocytoma
  • c.643-11T>C Single submitter pheochromocytoma
  • c.643-11T>G Single submitter pheochromocytoma
  • c.643-12C>G Single submitter gastrointestinal stromal tumor
  • c.643-14C>A Single submitter pheochromocytoma
  • c.643-15del Single submitter pheochromocytoma
  • c.643-16_643-14del Single submitter hereditary pheochromocytoma-paraganglioma
  • c.643-17C>T Single submitter gastrointestinal stromal tumor
  • c.643-18T>C Single submitter pheochromocytoma
  • c.643-49G>A Single submitter
  • c.643-4dup Single submitter gastrointestinal stromal tumor
  • c.643-6T>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.643-8T>C Single submitter pheochromocytoma
  • c.643-9G>A Single submitter pheochromocytoma
  • c.72+1831T>C Single submitter
  • c.72+1849C>T Single submitter
  • c.73-13T>G Single submitter gastrointestinal stromal tumor
  • c.73-14T>A Single submitter pheochromocytoma
  • c.73-16C>A Single submitter pheochromocytoma
  • c.73-16C>T Single submitter pheochromocytoma
  • c.73-17A>C Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.73-17del Single submitter pheochromocytoma
  • c.73-19G>A Single submitter pheochromocytoma
  • c.73-20T>G Single submitter pheochromocytoma
  • c.73-29dup Single submitter
  • c.73-41C>G Single submitter
  • c.73-5T>G Single submitter gastrointestinal stromal tumor
  • c.73-6T>C Single submitter pheochromocytoma
  • c.765+12T>C Single submitter pheochromocytoma
  • c.765+14G>C Single submitter gastrointestinal stromal tumor
  • c.765+16G>A Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.765+16G>T Single submitter pheochromocytoma
  • c.765+20C>T Single submitter pheochromocytoma
  • c.765+29G>A Single submitter hereditary neoplastic syndrome
  • c.765+45G>A Single submitter
  • c.765+7G>A Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.765+8G>A Single submitter pheochromocytoma/paraganglioma syndrome 4
  • c.765+8G>T Single submitter pheochromocytoma
  • c.765+9G>A Single submitter pheochromocytoma
  • c.766-4C>A Single submitter pheochromocytoma
  • c.766-5T>C Single submitter pheochromocytoma
  • c.-198G>A Single submitter
  • c.-38C>G Single submitter
  • c.-45G>A Single submitter
  • c.*13T>C Single submitter
  • c.*29C>T Single submitter
  • c.*30C>T Single submitter
  • p.Ala112= Single submitter pheochromocytoma
  • p.Ala15= Single submitter hereditary neoplastic syndrome
  • p.Ala190= Single submitter gastrointestinal stromal tumor
  • p.Ala210= Single submitter pheochromocytoma
  • p.Ala262= Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Ala271= Single submitter hereditary neoplastic syndrome
  • p.Ala29= Single submitter gastrointestinal stromal tumor
  • p.Ala3= Single submitter pheochromocytoma
  • p.Ala36= Single submitter hereditary neoplastic syndrome
  • p.Ala52= Single submitter pheochromocytoma
  • p.Ala75= Single submitter pheochromocytoma
  • p.Arg10= Single submitter pheochromocytoma
  • p.Arg116= Single submitter hereditary neoplastic syndrome
  • p.Arg12= Single submitter pheochromocytoma
  • p.Arg217= Single submitter hereditary neoplastic syndrome
  • p.Arg242= Single submitter hereditary neoplastic syndrome
  • p.Arg46= Single submitter pheochromocytoma
  • p.Arg90= Single submitter hereditary neoplastic syndrome
  • p.Asn106= Single submitter gastrointestinal stromal tumor
  • p.Asn145= Single submitter gastrointestinal stromal tumor
  • p.Asn248= Single submitter hereditary neoplastic syndrome
  • p.Asp50= Single submitter hereditary neoplastic syndrome
  • p.Asp74= Single submitter hereditary neoplastic syndrome
  • p.Cys101= Single submitter pheochromocytoma
  • p.Cys191= Single submitter hereditary neoplastic syndrome
  • p.Cys253= Single submitter gastrointestinal stromal tumor
  • p.Gln30= Single submitter pheochromocytoma
  • p.Glu162= Single submitter hereditary neoplastic syndrome
  • p.Glu165= Single submitter hereditary neoplastic syndrome
  • p.Glu176Asp Single submitter hereditary neoplastic syndrome
  • p.Glu275= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Gly107= Single submitter pheochromocytoma
  • p.Gly108= Single submitter hereditary neoplastic syndrome
  • p.Gly96= Single submitter hereditary neoplastic syndrome
  • p.Gly99= Single submitter hereditary neoplastic syndrome
  • p.His244= Single submitter gastrointestinal stromal tumor
  • p.Ile44= Single submitter pheochromocytoma
  • p.Ile79= Single submitter hereditary neoplastic syndrome
  • p.Leu111= Single submitter pheochromocytoma/paraganglioma syndrome 4
  • p.Leu121= Single submitter pheochromocytoma
  • p.Leu13= Single submitter hereditary neoplastic syndrome
  • p.Leu183= Single submitter pheochromocytoma
  • p.Leu9= Single submitter pheochromocytoma
  • p.Lys151= Single submitter gastrointestinal stromal tumor
  • p.Lys205= Single submitter hereditary neoplastic syndrome
  • p.Lys40= Single submitter gastrointestinal stromal tumor
  • p.Lys55= Single submitter hereditary neoplastic syndrome
  • p.Phe238= Single submitter hereditary neoplastic syndrome
  • p.Pro129= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Pro131= Single submitter pheochromocytoma
  • p.Pro197= Single submitter pheochromocytoma
  • p.Pro209= Single submitter gastrointestinal stromal tumor
  • p.Pro49= Single submitter pheochromocytoma
  • p.Ser125= Single submitter gastrointestinal stromal tumor
  • p.Ser195= Single submitter hereditary neoplastic syndrome
  • p.Ser222= Single submitter hereditary neoplastic syndrome
  • p.Ser279= Single submitter hereditary neoplastic syndrome
  • p.Ser92= Single submitter pheochromocytoma
  • p.Thr110= Single submitter pheochromocytoma
  • p.Thr114= Single submitter hereditary neoplastic syndrome
  • p.Thr16= Single submitter pheochromocytoma
  • p.Thr252= Single submitter pheochromocytoma
  • p.Thr35= Single submitter hereditary neoplastic syndrome
  • p.Thr35Ala Single submitter hereditary neoplastic syndrome

Uncertain significance 649

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