Sugi Variant

Sugi Variant/SDHC

SDHC — 911 ClinVar variants

All ClinVar germline SDHC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 356 flagged for review →

49 Pathogenic · 17 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 49 Conflicting · 75 Benign · 52 Benign/Likely benign · 214 Likely benign · 427 Uncertain significance

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

⚑ Evidence disagreements 356

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 20

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

Predicted LoF vs a conflicting call 2

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 237

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 237

Predictors split 97

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

All SDHC variants

Pathogenic 49

  • c.244dupG Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.405+1G>A Multiple submitters SDHC-related disorder
  • c.405+1G>C Multiple submitters hereditary neoplastic syndrome
  • p.Ala34fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg133Ter Multiple submitters SDHC-related disorder
  • p.Arg15Ter Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Arg40fs Multiple submitters hereditary neoplastic syndrome
  • p.His127Tyr Multiple submitters hereditary neoplastic syndrome
  • p.His17fs Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.His8fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu78fs Multiple submitters Inherited phaeochromocytoma and paraganglioma excluding NF1
  • p.Leu84fs Multiple submitters gastrointestinal stromal tumor
  • p.Met1Arg Multiple submitters gastrointestinal stromal tumor
  • p.Met1Ile Multiple submitters gastrointestinal stromal tumor
  • p.Met1Leu Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Met1Val Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Ser83fs Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Trp61fs Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Trp61Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr59Ter Multiple submitters gastrointestinal stromal tumor
  • c.21-1G>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.21-3C>G Single submitter gastrointestinal stromal tumor
  • c.406-408_*4225del Single submitter
  • c.406-?_*2318+?del Single submitter gastrointestinal stromal tumor
  • p.Ala119fs Single submitter hereditary neoplastic syndrome
  • p.Ala3fs Single submitter hereditary neoplastic syndrome
  • p.Arg72fs Single submitter gastrointestinal stromal tumor
  • p.Arg72Leu Single submitter hereditary neoplastic syndrome
  • p.Cys107Ter Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Gln21Ter Single submitter gastrointestinal stromal tumor
  • p.Glu36fs Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Glu97Ter Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Ile69fs Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Ile76fs Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Leu106fs Single submitter gastrointestinal stromal tumor
  • p.Leu5Ter Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Lys117fs Single submitter gastrointestinal stromal tumor
  • p.Lys35Ter Single submitter hereditary neoplastic syndrome
  • p.Met1Thr Single submitter gastrointestinal stromal tumor
  • p.Phe85fs Single submitter hereditary neoplastic syndrome
  • p.Pro29fs Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Ser48_Asn49insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysAsnIleGlySer Single submitter gastrointestinal stromal tumor
  • p.Ser48Ter Single submitter gastrointestinal stromal tumor
  • p.Thr74fs Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Trp42fs Single submitter gastrointestinal stromal tumor
  • p.Tyr126fs Single submitter hereditary neoplastic syndrome
  • p.Tyr59fs Single submitter gastrointestinal stromal tumor
  • p.Val121fs Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Met136_Ter170delinsXaa No assertion criteria hereditary pheochromocytoma-paraganglioma

Pathogenic/Likely pathogenic 17

  • c.21-2A>G Multiple submitters gastrointestinal stromal tumor
  • c.405+1G>T Multiple submitters gastrointestinal stromal tumor
  • c.77+1G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.77+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.78-1G>A Multiple submitters gastrointestinal stromal tumor
  • c.78-1G>T Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.78-2A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Arg50Cys Multiple submitters gastrointestinal stromal tumor
  • p.Arg72Cys Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Arg72His Multiple submitters hereditary neoplastic syndrome
  • p.Arg7Ter Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Gln150Ter Multiple submitters Inherited phaeochromocytoma and paraganglioma excluding NF1
  • p.Gly75Asp Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Gly94fs Multiple submitters SDHC-related disorder
  • p.His127Arg Multiple submitters SDHC-related disorder
  • p.Trp129Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr126Cys Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 28

  • c.179+1G>C Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.179+1G>T Multiple submitters gastrointestinal stromal tumor
  • c.180-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.20+1G>T Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.241+1G>A Multiple submitters hereditary neoplastic syndrome
  • p.Arg7Lys Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gln147Ter Multiple submitters gastrointestinal stromal tumor
  • p.His127Asn Multiple submitters gastrointestinal stromal tumor
  • c.171_179+15del Single submitter gastrointestinal stromal tumor
  • c.179+2T>A Single submitter gastrointestinal stromal tumor
  • c.20+1G>A Single submitter gastrointestinal stromal tumor
  • c.20+2T>A Single submitter gastrointestinal stromal tumor
  • c.20+2T>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.21-3_22del Single submitter hereditary pheochromocytoma-paraganglioma
  • c.241+1G>T Single submitter hereditary neoplastic syndrome
  • c.242-1G>A Single submitter gastrointestinal stromal tumor
  • c.242-2_242-1insT Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.242-2A>G Single submitter hereditary neoplastic syndrome
  • c.405+1del Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.406-1G>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.406-1G>T Single submitter
  • c.77+5G>T Single submitter hereditary neoplastic syndrome
  • p.Arg50Ser Single submitter gastrointestinal stromal tumor
  • p.Gly75Arg Single submitter hereditary neoplastic syndrome
  • p.Met1Lys Single submitter hereditary neoplastic syndrome
  • p.Pro64fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ser151_Gly152delinsTyrGlu Single submitter hereditary neoplastic syndrome
  • p.Val160fs Single submitter hereditary neoplastic syndrome

Conflicting classifications of pathogenicity 49

  • c.180-3C>T Single submitter gastrointestinal stromal tumor
  • c.20+4066C>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.20+5C>G Single submitter hereditary neoplastic syndrome
  • c.20+5C>T Single submitter gastrointestinal stromal tumor
  • c.241+3A>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.242-15T>C Single submitter gastrointestinal stromal tumor
  • c.405+23C>T Single submitter hereditary neoplastic syndrome
  • c.406-5C>T Single submitter gastrointestinal stromal tumor
  • c.406-8G>T Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.77+2dup Single submitter hereditary neoplastic syndrome ⚠
  • c.78-16T>C Single submitter hereditary neoplastic syndrome
  • c.-1G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*1159C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*34A>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*3A>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.*409G>A Single submitter hereditary neoplastic syndrome
  • c.*84G>C Single submitter hereditary neoplastic syndrome
  • p.Ala168= Single submitter hereditary neoplastic syndrome
  • p.Ala66Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Arg40Gln Single submitter gastrointestinal stromal tumor ⚠
  • p.Arg72Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln150= Single submitter hereditary neoplastic syndrome
  • p.Gly140= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Gly140Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly142= Single submitter gastrointestinal stromal tumor
  • p.Gly86Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.His127Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.His55= Single submitter gastrointestinal stromal tumor
  • p.Ile46Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu14= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Leu166Arg Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Lys117= Single submitter gastrointestinal stromal tumor
  • p.Lys141fs Single submitter hereditary neoplastic syndrome ⚠
  • p.Met125Arg Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Met164Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Met164Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Met87Leu Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Phe18Leu Single submitter gastrointestinal stromal tumor ⚠
  • p.Pro54Ser Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Pro54Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser68Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser88= Single submitter gastrointestinal stromal tumor
  • p.Ser88Leu Single submitter gastrointestinal stromal tumor ⚠
  • p.Ser98Ala Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Ser98Pro Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Thr33Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Tyr99His Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Val121= Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Val154Ala Single submitter hereditary neoplastic syndrome ⚠

Benign 75

Benign/Likely benign 52

  • c.179+10G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.20+11_20+12dup Multiple submitters hereditary neoplastic syndrome
  • c.242-9del Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.405+13G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.406-14dup Multiple submitters
  • c.77+32A>T Multiple submitters
  • c.78-19C>T Multiple submitters gastrointestinal stromal tumor
  • c.*123C>G Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ala111= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ala119= Multiple submitters hereditary neoplastic syndrome
  • p.Ala16= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Ala2= Multiple submitters hereditary neoplastic syndrome
  • p.Ala27= Multiple submitters hereditary neoplastic syndrome
  • p.Ala3= Multiple submitters hereditary neoplastic syndrome
  • p.Ala66= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ala89= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Arg40= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Asn130= Multiple submitters hereditary neoplastic syndrome
  • p.Asn45= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Asn49= Multiple submitters hereditary neoplastic syndrome
  • p.Gln147= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Gly152= Multiple submitters hereditary neoplastic syndrome
  • p.Gly73= Multiple submitters hereditary neoplastic syndrome
  • p.Gly94= Multiple submitters gastrointestinal stromal tumor
  • p.His114= Multiple submitters hereditary neoplastic syndrome
  • p.His12= Multiple submitters gastrointestinal stromal tumor
  • p.His134= Multiple submitters gastrointestinal stromal tumor
  • p.His8= Multiple submitters hereditary neoplastic syndrome
  • p.Leu106= Multiple submitters hereditary neoplastic syndrome
  • p.Leu108= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Leu112= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Leu124= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Leu148= Multiple submitters hereditary neoplastic syndrome
  • p.Leu156= Multiple submitters hereditary neoplastic syndrome
  • p.Leu166= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Leu22= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Leu6= Multiple submitters hereditary neoplastic syndrome
  • p.Lys104= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Lys141= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Lys44= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Phe118= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Pro93= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Ser163= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Ser98= Multiple submitters hereditary neoplastic syndrome
  • p.Thr128= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Thr159= Multiple submitters gastrointestinal stromal tumor
  • p.Thr32= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Thr57= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Tyr59= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Tyr99= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Val103= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Val153= Multiple submitters hereditary neoplastic syndrome

Likely benign 214

  • c.179+8A>C Multiple submitters gastrointestinal stromal tumor
  • c.179+9G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.180-11T>G Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.180-13T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.180-19T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.180-4A>G Multiple submitters gastrointestinal stromal tumor
  • c.180-9T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.20+10G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.20+12_20+13insTA Multiple submitters gastrointestinal stromal tumor
  • c.20+16C>A Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.20+3G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.20+7T>G Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.20+8C>A Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.20+8C>T Multiple submitters gastrointestinal stromal tumor
  • c.20+9A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.21-10dup Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.21-10T>C Multiple submitters gastrointestinal stromal tumor
  • c.21-14C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.21-6T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.21-8T>C Multiple submitters gastrointestinal stromal tumor
  • c.21-9A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.241+7A>G Multiple submitters gastrointestinal stromal tumor
  • c.241+9_241+10del Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.242-13G>C Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.242-20C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.242-6C>T Multiple submitters gastrointestinal stromal tumor
  • c.406-10T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.406-13G>A Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.406-4A>G Multiple submitters hereditary neoplastic syndrome
  • c.77+9C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.78-15C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.78-17G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.78-19C>A Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.*78G>A Multiple submitters gastrointestinal stromal tumor
  • p.Ala34= Multiple submitters hereditary neoplastic syndrome
  • p.Ala80= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Arg15= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Gln21= Multiple submitters hereditary neoplastic syndrome
  • p.Glu36= Multiple submitters hereditary neoplastic syndrome
  • p.Gly10= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Gly131= Multiple submitters gastrointestinal stromal tumor
  • p.Gly165= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Gly86= Multiple submitters gastrointestinal stromal tumor
  • p.His127= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Ile58= Multiple submitters hereditary neoplastic syndrome
  • p.Leu143= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Leu161= Multiple submitters hereditary neoplastic syndrome
  • p.Leu4= Multiple submitters gastrointestinal stromal tumor
  • p.Leu52= Multiple submitters hereditary neoplastic syndrome
  • p.Phe85= Multiple submitters hereditary neoplastic syndrome
  • p.Pro146= Multiple submitters hereditary neoplastic syndrome
  • p.Ser105= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Ser162= Multiple submitters hereditary neoplastic syndrome
  • p.Ser60= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Ser68= Multiple submitters gastrointestinal stromal tumor
  • p.Ser79= Multiple submitters hereditary neoplastic syndrome
  • p.Thr115= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Val154= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Val82= Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.179+10_179+19del Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.179+10del Single submitter gastrointestinal stromal tumor
  • c.179+12T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.179+16G>A Single submitter gastrointestinal stromal tumor
  • c.179+17G>C Single submitter gastrointestinal stromal tumor
  • c.179+20C>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.179+20C>G Single submitter gastrointestinal stromal tumor
  • c.180-10T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.180-10T>G Single submitter gastrointestinal stromal tumor
  • c.180-12G>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.180-135G>A Single submitter
  • c.180-15T>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.180-16G>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.180-16G>T Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.180-17del Single submitter gastrointestinal stromal tumor
  • c.180-17T>C Single submitter gastrointestinal stromal tumor
  • c.180-47G>A Single submitter
  • c.180-6T>C Single submitter gastrointestinal stromal tumor
  • c.20+10_20+11insCG Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.20+10G>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.20+11_20+12insTT Single submitter gastrointestinal stromal tumor
  • c.20+11T>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.20+12G>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.20+13G>A Single submitter gastrointestinal stromal tumor
  • c.20+14G>A Single submitter gastrointestinal stromal tumor
  • c.20+14G>T Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.20+15A>C Single submitter gastrointestinal stromal tumor
  • c.20+17T>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.20+18G>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.20+20G>T Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.20+22G>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.20+42G>A Single submitter
  • c.20+9A>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.21-15T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.21-17A>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.21-17A>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.21-18G>T Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.21-4G>A Single submitter gastrointestinal stromal tumor
  • c.21-5T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.21-7C>T Single submitter gastrointestinal stromal tumor
  • c.21-9A>T Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.241+12T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.241+13_241+14del Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.241+13G>A Single submitter gastrointestinal stromal tumor
  • c.241+14T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.241+15T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.241+15T>G Single submitter gastrointestinal stromal tumor
  • c.241+17T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.241+18T>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.241+19A>G Single submitter gastrointestinal stromal tumor
  • c.241+19AC[3] Single submitter gastrointestinal stromal tumor
  • c.241+20C>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.241+20C>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.241+6dup Single submitter
  • c.241+7_241+10del Single submitter gastrointestinal stromal tumor
  • c.241+7A>C Single submitter gastrointestinal stromal tumor
  • c.241+9A>G Single submitter gastrointestinal stromal tumor
  • c.242-10_242-9dup Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.242-13G>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.242-176T>C Single submitter
  • c.242-17C>T Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.242-20C>G Single submitter gastrointestinal stromal tumor
  • c.242-37T>C Single submitter
  • c.242-3C>T Single submitter
  • c.242-40T>A Single submitter
  • c.242-7T>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.242-8C>A Single submitter gastrointestinal stromal tumor
  • c.242-8C>T Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.405+10T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.405+11T>A Single submitter gastrointestinal stromal tumor
  • c.405+11T>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.405+12C>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.405+12C>T Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.405+13G>T Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.405+14G>A Single submitter gastrointestinal stromal tumor
  • c.405+15G>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.405+16A>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.405+18T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.405+36A>G Single submitter
  • c.405+7T>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.406-10T>G Single submitter gastrointestinal stromal tumor
  • c.406-13G>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.406-14T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.406-14T>G Single submitter
  • c.406-43T>G Single submitter
  • c.406-5del Single submitter gastrointestinal stromal tumor
  • c.406-6C>G Single submitter gastrointestinal stromal tumor
  • c.406-7T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.406-8G>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.77+10T>A Single submitter gastrointestinal stromal tumor
  • c.77+26_77+27insA Single submitter
  • c.77+29_77+31dup Single submitter
  • c.77+31T>A Single submitter
  • c.77+32_77+33del Single submitter
  • c.77+32A>G Single submitter
  • c.77+32del Single submitter
  • c.77+8T>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.78-152C>T Single submitter
  • c.78-17G>T Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.78-18G>A Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.78-4T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.78-8T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.78-9T>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.-14G>C Single submitter
  • c.-33C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*13C>G Single submitter
  • c.*20T>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.*26T>C Single submitter
  • c.*38T>C Single submitter
  • c.*45C>A Single submitter
  • p.Ala116= Single submitter gastrointestinal stromal tumor
  • p.Arg11= Single submitter hereditary neoplastic syndrome
  • p.Arg133= Single submitter hereditary neoplastic syndrome
  • p.Asn95= Single submitter hereditary neoplastic syndrome
  • p.Cys70= Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Glu37= Single submitter hereditary neoplastic syndrome
  • p.Glu97= Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Gly109= Single submitter gastrointestinal stromal tumor
  • p.Gly75= Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Gly81= Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Ile113= Single submitter hereditary neoplastic syndrome
  • p.Ile132= Single submitter gastrointestinal stromal tumor
  • p.Ile145= Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Ile24Val Single submitter hereditary neoplastic syndrome
  • p.Ile69= Single submitter hereditary neoplastic syndrome
  • p.Leu102= Single submitter hereditary neoplastic syndrome
  • p.Leu120= Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Leu124fs Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Leu139= Single submitter gastrointestinal stromal tumor
  • p.Leu158= Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Leu63= Single submitter hereditary neoplastic syndrome
  • p.Leu78= Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Leu84= Single submitter gastrointestinal stromal tumor
  • p.Leu90= Single submitter gastrointestinal stromal tumor
  • p.Leu91= Single submitter hereditary neoplastic syndrome
  • p.Leu92= Single submitter hereditary neoplastic syndrome
  • p.Phe18= Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Phe41= Single submitter gastrointestinal stromal tumor
  • p.Phe96= Single submitter hereditary neoplastic syndrome
  • p.Pro110= Single submitter hereditary neoplastic syndrome
  • p.Pro20= Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Pro54= Single submitter hereditary neoplastic syndrome
  • p.Ser151= Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Ser48= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ser62= Single submitter hereditary neoplastic syndrome
  • p.Ser83= Single submitter gastrointestinal stromal tumor
  • p.Thr33= Single submitter gastrointestinal stromal tumor
  • p.Tyr149= Single submitter hereditary neoplastic syndrome
  • p.Val155= Single submitter gastrointestinal stromal tumor
  • p.Val160= Single submitter hereditary pheochromocytoma-paraganglioma
  • c.180-35C>T No assertion criteria hereditary neoplastic syndrome
  • c.77+31dup No assertion criteria
  • c.*50A>G No assertion criteria SDHC-related disorder
  • c.*62G>A No assertion criteria SDHC-related disorder
  • c.*65A>G No assertion criteria SDHC-related disorder

Uncertain significance 427

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

  • c.179+3A>C Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.179+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.20+4A>G Multiple submitters hereditary neoplastic syndrome
  • c.20+4del Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.20+6T>A Multiple submitters gastrointestinal stromal tumor
  • c.20+6T>G Multiple submitters gastrointestinal stromal tumor
  • c.21-22_30dup Multiple submitters hereditary neoplastic syndrome
  • c.21-5T>G Multiple submitters gastrointestinal stromal tumor
  • c.241+4_241+5delinsAT Multiple submitters hereditary neoplastic syndrome
  • c.242-6C>A Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.405+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.406-3C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.77+3A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • c.-3A>G Multiple submitters hereditary pheochromocytoma-paraganglioma
  • c.-4C>G Multiple submitters hereditary neoplastic syndrome
  • p.Ala111del Multiple submitters gastrointestinal stromal tumor
  • p.Ala119Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala119Val Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Ala167Val Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala168Thr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala16Thr Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Ala16Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2Gly Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Ala2Pro Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Ala2Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala2Thr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala2Val Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ala3Glu Multiple submitters gastrointestinal stromal tumor
  • p.Ala3Pro Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala3Ser Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Ala3Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala3Val Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala66Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala80Thr Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Arg11Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg11His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg11Leu Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg133Gln Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Arg133Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg15Gln Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Arg15Gly Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Arg25Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg40Trp Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg50His Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg50Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn26Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn43His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn43Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Asn49Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn49Ile Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Asn49Ser Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Asn49Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys23_Arg25del Multiple submitters gastrointestinal stromal tumor
  • p.Cys23Tyr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gln150His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln150Lys Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Gln21Glu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Gln21His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu37Val Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu39Ala Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Glu39Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu97Gly Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gly109Ala Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Gly10Ala Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gly10Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly142Ser Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Gly142Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly152Ala Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Gly152Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly152Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly47Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly81Val Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Gly94Arg Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.His12Arg Multiple submitters gastrointestinal stromal tumor ⚠
  • p.His12Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His12Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His17Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His55Arg Multiple submitters gastrointestinal stromal tumor ⚠
  • p.His71Tyr Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.His8Arg Multiple submitters gastrointestinal stromal tumor ⚠
  • p.His8Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His8Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His8Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile145Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile145Thr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ile46Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile56Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile56Val Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ile58Thr Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Ile69Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu102Phe Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Leu106Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu120Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu120Phe Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Leu120Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu124Phe Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Leu124Val Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Leu135Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu135Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu14Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu158Pro Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Leu161Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Leu22Phe Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Leu4Pro Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Leu4Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu5Met Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Leu5Phe Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Leu5Ser Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Leu63Phe Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Leu6Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Leu6Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu78Val Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Leu84Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu84Ile Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Leu84Val Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Leu90Val Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Leu91Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu92Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys104Glu Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Lys117Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys117Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys141Arg Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Lys144Asn Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Lys144Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys35Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys35Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys44Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met169Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met169Val Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Met38Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met65Val Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Met67Lys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Met67Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met87Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe122Cys Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Phe41Ser Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Phe85Cys Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Phe96Cys Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Pro110Leu Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Pro123Leu Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Pro123Ser Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Pro146Thr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Pro20Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro20Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro29Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro64Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro93Leu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ser151Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser151Phe Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ser151Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser151Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser162Cys Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ser162Phe Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ser163Cys Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ser163Pro Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ser60Asn Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Ser60Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser83Cys Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Thr159Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr32Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr32Asn Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Thr33Ala Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Thr33Lys Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Thr57Ala Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Thr74Ala Multiple submitters SDHC-related disorder ⚠
  • p.Thr74Ile Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Trp129Cys Multiple submitters pheochromocytoma/paraganglioma syndrome 3
  • p.Trp137Gly Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
  • p.Trp137Leu Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Trp42Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Tyr149His Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Tyr59Asp Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Tyr99Cys Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Val103Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val121Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val153Met Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Val154fs Multiple submitters gastrointestinal stromal tumor
  • p.Val154Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val155Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val155Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val157Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val160Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val28Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val28Leu Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Val28Phe Multiple submitters Carney-Stratakis syndrome ⚠
  • p.Val82Ile Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Val82Phe Multiple submitters pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Val9Ile Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Val9Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • c.179+3405A>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.179+4A>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.179+5G>C Single submitter gastrointestinal stromal tumor
  • c.180-13_180-12insA Single submitter gastrointestinal stromal tumor
  • c.20+118G>A Single submitter hereditary neoplastic syndrome
  • c.20+3G>C Single submitter gastrointestinal stromal tumor
  • c.20+4A>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.20+98C>T Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.21-3C>T Single submitter gastrointestinal stromal tumor
  • c.241+4T>C Single submitter gastrointestinal stromal tumor
  • c.241+5dup Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.241+5G>A Single submitter gastrointestinal stromal tumor
  • c.242-11T>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.405+6T>G Single submitter gastrointestinal stromal tumor
  • c.406-2A>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.406-7T>A Single submitter
  • c.77+5G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.77+5G>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.77+6T>C Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.77+9C>G Single submitter pheochromocytoma/paraganglioma syndrome 3
  • c.78-19del Single submitter gastrointestinal stromal tumor
  • c.78-3del Single submitter hereditary neoplastic syndrome
  • c.78-3T>C Single submitter hereditary neoplastic syndrome
  • c.-10G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.-11C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.-12C>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.-14G>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.-4C>T Single submitter hereditary neoplastic syndrome
  • c.-5C>A Single submitter hereditary neoplastic syndrome
  • c.-5C>T Single submitter hereditary neoplastic syndrome
  • c.*1052G>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*115T>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*1181G>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*1650A>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*174G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*1889T>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*18C>T Single submitter SDHC-related disorder
  • c.*1918G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*2020A>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*2240C>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*2274G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*251C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*252G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*397G>A Single submitter
  • c.*518G>A Single submitter
  • c.*540A>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*632A>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*707G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*728C>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*773A>G Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*780G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*855C>T Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*863G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*870G>C Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ala111Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala111Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Ala116Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala167fs Single submitter gastrointestinal stromal tumor
  • p.Ala168_Met169insAla Single submitter gastrointestinal stromal tumor
  • p.Ala16Asp Single submitter gastrointestinal stromal tumor ⚠
  • p.Ala27Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Ala2Asp Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Ala34Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala34Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala66_Met67delinsValSer Single submitter hereditary neoplastic syndrome
  • p.Ala66Glu Single submitter gastrointestinal stromal tumor ⚠
  • p.Ala66Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala66Thr Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Ala77Asp Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Ala77Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala80Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala89Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg25Ile Single submitter gastrointestinal stromal tumor ⚠
  • p.Arg40Gly Single submitter gastrointestinal stromal tumor ⚠
  • p.Arg7= Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Arg7Gly Single submitter gastrointestinal stromal tumor ⚠
  • p.Asn130His Single submitter gastrointestinal stromal tumor ⚠
  • p.Asn130Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn26= Single submitter gastrointestinal stromal tumor
  • p.Asn26Ser Single submitter gastrointestinal stromal tumor ⚠
  • p.Asn43Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn43Lys Single submitter gastrointestinal stromal tumor ⚠
  • p.Asn45Asp Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Asn49Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn95Lys Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Cys107Tyr Single submitter gastrointestinal stromal tumor ⚠
  • p.Cys13Arg Single submitter gastrointestinal stromal tumor ⚠
  • p.Cys13Phe Single submitter gastrointestinal stromal tumor ⚠
  • p.Cys13Ser Single submitter gastrointestinal stromal tumor ⚠
  • p.Cys13Tyr Single submitter gastrointestinal stromal tumor ⚠
  • p.Cys23Arg Single submitter gastrointestinal stromal tumor ⚠
  • p.Cys70Ser Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Gln147del Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Gln147His Single submitter gastrointestinal stromal tumor ⚠
  • p.Gln21Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln21Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu101Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu101Lys Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Glu36Lys Single submitter gastrointestinal stromal tumor ⚠
  • p.Glu37del Single submitter gastrointestinal stromal tumor
  • p.Glu37Gln Single submitter hereditary neoplastic syndrome
  • p.Glu37Gly Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Glu37Lys Single submitter gastrointestinal stromal tumor ⚠
  • p.Glu39Gln Single submitter gastrointestinal stromal tumor ⚠
  • p.Glu97Asp Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠
  • p.Gly109Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly142Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly142Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly142Cys Single submitter gastrointestinal stromal tumor ⚠
  • p.Gly142fs Single submitter pheochromocytoma/paraganglioma syndrome 3
  • p.Gly152Val Single submitter pheochromocytoma/paraganglioma syndrome 3 ⚠