SDHD — 756 ClinVar variants

All ClinVar germline SDHD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 347 flagged for review →

72 Pathogenic · 21 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 50 Conflicting · 22 Benign · 50 Benign/Likely benign · 138 Likely benign · 376 Uncertain significance

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

⚑ Evidence disagreements 347

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 24

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

SDHD p.Ala18Val Conflicting Single submitter
Cowden syndrome 3
SDHD p.Ala90Glu Conflicting Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.Ala90Val Conflicting Single submitter
pheochromocytoma
SDHD p.Arg38Gln Conflicting Single submitter
hereditary neoplastic syndrome
SDHD p.Arg70Thr Conflicting Single submitter
hereditary neoplastic syndrome
SDHD p.Asp113Val Conflicting Single submitter
pheochromocytoma
SDHD p.Asp118Glu Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma
SDHD p.Glu42Gly Conflicting Single submitter
Cowden syndrome 3
SDHD p.Glu69Lys Conflicting Single submitter
pheochromocytoma
SDHD p.Gly138Glu Conflicting Single submitter
Carney-Stratakis syndrome
SDHD p.Gly138Val Conflicting Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.Gly148Asp Conflicting Single submitter
pheochromocytoma
SDHD p.Gly78Arg Conflicting Single submitter
hereditary neoplastic syndrome
SDHD p.Ile31Val Conflicting Single submitter
hereditary neoplastic syndrome
SDHD p.Ile40Leu Conflicting Single submitter
mitochondrial complex 2 deficiency, nuclear type 3
SDHD p.Ile40Thr Conflicting Single submitter
Carney-Stratakis syndrome
SDHD p.Leu4Val Conflicting Single submitter
pheochromocytoma
SDHD p.Leu85Phe Conflicting Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.Pro24Ser Conflicting Single submitter
Carney-Stratakis syndrome
SDHD p.Pro81Arg Conflicting Single submitter
paraganglioma
SDHD p.Ser68Gly Conflicting Single submitter
hereditary neoplastic syndrome
SDHD p.Trp66Cys Conflicting Single submitter
hereditary neoplastic syndrome
SDHD p.Tyr114His Conflicting Single submitter
Cowden syndrome 3
SDHD p.Val111Ile Conflicting Single submitter
mitochondrial complex 2 deficiency, nuclear type 3

Predicted LoF vs a conflicting call 3

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

SDHD c.53-1_53delinsTT Conflicting Single submitter
pheochromocytoma
SDHD c.53-1G>T Conflicting Single submitter
hereditary neoplastic syndrome
SDHD p.Ter160Leu Conflicting Single submitter
Carney-Stratakis syndrome

Predictors lean, ClinVar uncertain 190

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 190

SDHD p.Ala119Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ala119Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ala119Val Uncertain significance Multiple submitters
Paragangliomas with sensorineural hearing loss
SDHD p.Ala126Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ala126Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ala130Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ala133Asp Uncertain significance Multiple submitters
Cowden syndrome 3
SDHD p.Ala133Pro Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Ala29Thr Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Ala82Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ala9Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Arg22Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Arg22Pro Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Arg38Pro Uncertain significance Multiple submitters
Paragangliomas with sensorineural hearing loss
SDHD p.Asn143His Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Asp146Asn Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Asp37Asn Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Cys140Tyr Uncertain significance Multiple submitters
Paragangliomas with sensorineural hearing loss
SDHD p.Cys44Tyr Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Gln36Arg Uncertain significance Multiple submitters
Paragangliomas with sensorineural hearing loss
SDHD p.Gln36His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Gln36Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Gln47Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Glu42Lys Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Gly103Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Gly16Val Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.His104Asp Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.His145Asn Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.His30Pro Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHD p.His30Tyr Uncertain significance Multiple submitters
Paragangliomas with sensorineural hearing loss
SDHD p.His55Leu Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.His56Arg Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.His56Gln Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.His56Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.His65Arg Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Ile149Ser Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Ile31Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ile40Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ile49Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Leu107Phe Uncertain significance Multiple submitters
mitochondrial complex 2 deficiency, nuclear type 3
SDHD p.Leu131Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Leu134Val Uncertain significance Multiple submitters
mitochondrial complex 2 deficiency, nuclear type 3
SDHD p.Leu19Pro Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Leu21Phe Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Leu35Phe Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Leu35Pro Uncertain significance Multiple submitters
Cowden syndrome 3
SDHD p.Leu4Phe Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Leu51Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Leu64Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Leu75Val Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Leu76Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Lys125Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Lys125Asn Uncertain significance Multiple submitters
Cowden syndrome 3
SDHD p.Met155Lys Uncertain significance Multiple submitters
Paragangliomas with sensorineural hearing loss
SDHD p.Met91Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Met91Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Phe142Leu Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Pro24Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Pro28His Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Pro28Ser Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Pro39Leu Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Pro39Thr Uncertain significance Multiple submitters
Paragangliomas with sensorineural hearing loss
SDHD p.Pro41Ala Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Pro41Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Pro87Thr Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHD p.Ser54Arg Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Ser63Pro Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Ser73Asn Uncertain significance Multiple submitters
Cowden syndrome 3
SDHD p.Ser94Phe Uncertain significance Multiple submitters
Cowden syndrome 3
SDHD p.Trp5Arg Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Trp66Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Tyr84Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Tyr93His Uncertain significance Multiple submitters
Cowden syndrome 3
SDHD p.Val10Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Val110Ile Uncertain significance Multiple submitters
mitochondrial complex 2 deficiency, nuclear type 3
SDHD p.Val147Met Uncertain significance Multiple submitters
Paragangliomas with sensorineural hearing loss
SDHD p.Val25Leu Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Val3Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Val46Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Val46Met Uncertain significance Multiple submitters
Cowden syndrome 3
SDHD p.Val71Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Val74Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ala126Val Uncertain significance Single submitter
pheochromocytoma
SDHD p.Ala130Ser Uncertain significance Single submitter
Cowden syndrome 3
SDHD p.Ala130Val Uncertain significance Single submitter
Cowden syndrome 3
SDHD p.Ala137Pro Uncertain significance Single submitter
pheochromocytoma
SDHD p.Ala152Thr Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Ala29Val Uncertain significance Single submitter
pheochromocytoma
SDHD p.Ala33Glu Uncertain significance Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.Ala33Thr Uncertain significance Single submitter
pheochromocytoma
SDHD p.Ala33Val Uncertain significance Single submitter
SDHD p.Ala61Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Ala96Thr Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Ala98Pro Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Ala98Ser Uncertain significance Single submitter
Cowden syndrome 3
SDHD p.Arg38Leu Uncertain significance Single submitter
Cowden syndrome 3
SDHD p.Arg6Gly Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Arg70Ser Uncertain significance Single submitter
pheochromocytoma
SDHD p.Asn86Thr Uncertain significance Single submitter
pheochromocytoma
SDHD p.Asp113Gly Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Asp113His Uncertain significance Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.Asp118Ala Uncertain significance Single submitter
Cowden syndrome 3
SDHD p.Asp118Asn Uncertain significance Single submitter
pheochromocytoma
SDHD p.Asp146His Uncertain significance Single submitter
SDHD p.Asp146Tyr Uncertain significance Single submitter
pheochromocytoma
SDHD p.Asp92Asn Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Cys88Trp Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Gln121Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Gly103Asp Uncertain significance Single submitter
pheochromocytoma
SDHD p.Gly106Ser Uncertain significance Single submitter
mitochondrial complex 2 deficiency, nuclear type 3
SDHD p.Gly108Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Gly127Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Gly127Glu Uncertain significance Single submitter
Cowden syndrome 3
SDHD p.Gly12Cys Uncertain significance Single submitter
pheochromocytoma
SDHD p.Gly12Val Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Gly16Arg Uncertain significance Single submitter
pheochromocytoma
SDHD p.Gly45Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Gly45Glu Uncertain significance Single submitter
pheochromocytoma
SDHD p.Gly45Val Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHD p.Gly58Ser Uncertain significance Single submitter
pheochromocytoma
SDHD p.Gly78Asp Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHD p.His104Pro Uncertain significance Single submitter
pheochromocytoma
SDHD p.His145Gln Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.His145Tyr Uncertain significance Single submitter
pheochromocytoma
SDHD p.His30Asp Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.His30Gln Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.His48Gln Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.His55Arg Uncertain significance Single submitter
pheochromocytoma
SDHD p.His55Tyr Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.His65Pro Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHD p.His65Tyr Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Ile40Met Uncertain significance Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.Ile49Met Uncertain significance Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.Leu101His Uncertain significance Single submitter
pheochromocytoma
SDHD p.Leu107Val Uncertain significance Single submitter
SDHD p.Leu120Val Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Leu129Phe Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Leu129Trp Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Leu159Pro Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Leu19Val Uncertain significance Single submitter
pheochromocytoma
SDHD p.Leu20Met Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Leu20Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Leu20Trp Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Leu75Phe Uncertain significance Single submitter
pheochromocytoma
SDHD p.Leu76Pro Uncertain significance Single submitter
Cowden syndrome 3
SDHD p.Leu77Gln Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHD p.Leu77Pro Uncertain significance Single submitter
pheochromocytoma
SDHD p.Leu79Arg Uncertain significance Single submitter
SDHD p.Leu7Val Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Leu80Phe Uncertain significance Single submitter
pheochromocytoma

Predictors split 130

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

SDHD p.Ala124Ser Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Ala124Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ala124Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ala130Pro Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Ala133Gly Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Ala133Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ala137Val Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Ala154Val Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Ala29Pro Uncertain significance Multiple submitters
mitochondrial complex 2 deficiency, nuclear type 3
SDHD p.Ala2Val Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Ala61Pro Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Ala82Ser Uncertain significance Multiple submitters
Cowden syndrome 3
SDHD p.Ala83Val Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Ala90Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ala90Ser Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHD p.Ala97Val Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Ala98Val Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Arg70Lys Uncertain significance Multiple submitters
Paragangliomas with sensorineural hearing loss
SDHD p.Asn143Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Asn143Ser Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Asp118Gly Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Asp92Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Cys150Ser Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Cys88Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Gly108Arg Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Gly12Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Gly58Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Gly78Ser Uncertain significance Multiple submitters
Paragangliomas with sensorineural hearing loss
SDHD p.Gly78Val Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.His102Tyr Pathogenic/Likely pathogenic Multiple submitters
pheochromocytoma
SDHD p.His116Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.His50Arg Benign/Likely benign Multiple submitters
Carney-Stratakis syndrome
SDHD p.His50Tyr Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Ile149Val Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Ile49Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Leu101Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Leu101Val Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Leu129Ser Uncertain significance Multiple submitters
mitochondrial complex 2 deficiency, nuclear type 3
SDHD p.Leu7Arg Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Lys122Arg Uncertain significance Multiple submitters
Cowden syndrome 3
SDHD p.Lys151Asn Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Lys60Asn Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Met155Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Met91Thr Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHD p.Phe136Leu Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Pro28Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Pro28Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Pro53Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Pro53Leu Uncertain significance Multiple submitters
Paragangliomas with sensorineural hearing loss
SDHD p.Pro87Ser Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Ser132Ala Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Ser57Cys Uncertain significance Multiple submitters
Paragangliomas with sensorineural hearing loss
SDHD p.Ser57Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Ser59Phe Uncertain significance Multiple submitters
Cowden syndrome 3
SDHD p.Ser59Pro Uncertain significance Multiple submitters
mitochondrial complex 2 deficiency, nuclear type 3
SDHD p.Ser73Gly Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Ser94Cys Uncertain significance Multiple submitters
mitochondrial complex 2 deficiency, nuclear type 3
SDHD p.Thr100Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Thr100Ile Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Thr112Ile Uncertain significance Multiple submitters
Cowden syndrome 3
SDHD p.Tyr141Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Tyr141His Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Tyr144Cys Uncertain significance Multiple submitters
Carney-Stratakis syndrome
SDHD p.Tyr144His Uncertain significance Multiple submitters
Cowden syndrome 3
SDHD p.Tyr144Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Val111Ala Uncertain significance Multiple submitters
mitochondrial complex 2 deficiency, nuclear type 3
SDHD p.Val115Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Val153Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Val71Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHD p.Val72Phe Uncertain significance Multiple submitters
pheochromocytoma
SDHD p.Ala119Asp Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Ala126Ser Uncertain significance Single submitter
Cowden syndrome 3
SDHD p.Ala137Thr Uncertain significance Single submitter
pheochromocytoma
SDHD p.Ala154Gly Uncertain significance Single submitter
pheochromocytoma
SDHD p.Ala154Thr Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHD p.Ala2Thr Uncertain significance Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.Ala61Val Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Ala62Val Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Ala83Thr Uncertain significance Single submitter
pheochromocytoma
SDHD p.Ala90Thr Uncertain significance Single submitter
pheochromocytoma
SDHD p.Ala96Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Ala97Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Arg27Ser Uncertain significance Single submitter
pheochromocytoma
SDHD p.Arg27Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Asp37Tyr Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Asp37Val Conflicting Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.Gln47Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Gly103Ser Uncertain significance Single submitter
pheochromocytoma
SDHD p.Gly58Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Gly58Asp Uncertain significance Single submitter
pheochromocytoma
SDHD p.His116Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.His116Leu Uncertain significance Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.His50Asn Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.His50Asp Conflicting Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.His50Gln Uncertain significance Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.Leu107His Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Leu156Val Uncertain significance Single submitter
Cowden syndrome 3
SDHD p.Leu159Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Leu159Phe Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Leu21Pro Uncertain significance Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.Leu64Phe Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Leu77Met Uncertain significance Single submitter
pheochromocytoma
SDHD p.Leu79Val Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Leu7Pro Uncertain significance Single submitter
pheochromocytoma
SDHD p.Leu95Val Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Lys125Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Lys60Arg Uncertain significance Single submitter
pheochromocytoma
SDHD p.Lys60Thr Uncertain significance Single submitter
Cowden syndrome 3
SDHD p.Phe34Cys Conflicting Single submitter
Carney-Stratakis syndrome
SDHD p.Pro28Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Pro87Ala Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Ser132Thr Uncertain significance Single submitter
pheochromocytoma
SDHD p.Ser52Leu Uncertain significance Single submitter
pheochromocytoma
SDHD p.Ser59Ala Uncertain significance Single submitter
mitochondrial complex 2 deficiency, nuclear type 3
SDHD p.Ser63Cys Uncertain significance Single submitter
pheochromocytoma
SDHD p.Ser89Cys Uncertain significance Single submitter
pheochromocytoma
SDHD p.Ser89Phe Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Thr112Ala Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Thr112Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Thr67Ala Uncertain significance Single submitter
Carney-Stratakis syndrome
SDHD p.Thr67Asn Uncertain significance Single submitter
Cowden syndrome 3
SDHD p.Thr67Ile Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Thr67Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Tyr141Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Tyr84Ser Uncertain significance Single submitter
Paragangliomas with sensorineural hearing loss
SDHD p.Tyr93Cys Conflicting Single submitter
SDHD-related disorder
SDHD p.Val110Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Val111Leu Uncertain significance Single submitter
pheochromocytoma
SDHD p.Val111Phe Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHD p.Val74Gly Uncertain significance Single submitter

All SDHD variants

Pathogenic 72

c.170-1G>T Multiple submitters Paragangliomas with sensorineural hearing loss
c.314+1G>A Multiple submitters Paragangliomas with sensorineural hearing loss
c.314+1G>T Multiple submitters hereditary neoplastic syndrome
p.Ala33fs Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Arg22Ter Multiple submitters Paragangliomas with sensorineural hearing loss
p.Arg38Ter Multiple submitters Paragangliomas with sensorineural hearing loss
p.Asp113Ter Multiple submitters pheochromocytoma
p.Gln109fs Multiple submitters pheochromocytoma
p.Gln109Ter Multiple submitters pheochromocytoma
p.Gln36Ter Multiple submitters pheochromocytoma
p.Gln47Ter Multiple submitters Carney-Stratakis syndrome
p.Gly58fs Multiple submitters Paragangliomas with sensorineural hearing loss
p.His102Leu Multiple submitters pheochromocytoma
p.Ile49fs Multiple submitters Cowden syndrome 3
p.Leu128fs Multiple submitters Paragangliomas with sensorineural hearing loss
p.Leu139Pro Multiple submitters hereditary neoplastic syndrome
p.Leu19fs Multiple submitters Cowden syndrome 3
p.Leu20fs Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Met1Ile Multiple submitters pheochromocytoma
p.Met1Leu Multiple submitters hereditary neoplastic syndrome
p.Pro81fs Multiple submitters Paragangliomas with sensorineural hearing loss
p.Ser52Ter Multiple submitters Carney-Stratakis syndrome
p.Thr100fs Multiple submitters Cowden syndrome 3
p.Trp105Ter Multiple submitters pheochromocytoma
p.Trp66Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr114Cys Multiple submitters SDHD-related disorder
p.Tyr114fs Multiple submitters hereditary neoplastic syndrome
p.Tyr114Ter Multiple submitters hereditary neoplastic syndrome
c.169+1G>A Single submitter Carney-Stratakis syndrome
c.169+1G>T Single submitter Carney-Stratakis syndrome
c.169+5G>T Single submitter pheochromocytoma
c.170-1G>C Single submitter Inherited phaeochromocytoma and paraganglioma excluding NF1
c.314+1G>C Single submitter hereditary neoplastic syndrome
c.314+3A>T Single submitter
c.317delG Single submitter hereditary neoplastic syndrome
c.52+2T>C Single submitter pheochromocytoma
c.53-3C>G Single submitter hereditary neoplastic syndrome
p.Ala90fs Single submitter hereditary neoplastic syndrome
p.Ala96fs Single submitter hereditary neoplastic syndrome
p.Ala97fs Single submitter pheochromocytoma
p.Asp118fs Single submitter pheochromocytoma
p.Asp92fs Single submitter Carney-Stratakis syndrome
p.Cys44Ter Single submitter Carney-Stratakis syndrome
p.Cys88Ter Single submitter pheochromocytoma
p.Glu42fs Single submitter Carney-Stratakis syndrome
p.Glu42Ter Single submitter hereditary neoplastic syndrome
p.Glu69fs Single submitter pheochromocytoma
p.Glu69Ter Single submitter Paragangliomas with sensorineural hearing loss
p.Gly78fs Single submitter pheochromocytoma
p.His30fs Single submitter hereditary neoplastic syndrome
p.Leu129fs Single submitter hereditary neoplastic syndrome
p.Leu4fs Single submitter pheochromocytoma
p.Leu75fs Single submitter Paragangliomas with sensorineural hearing loss
p.Leu80Arg Single submitter Paragangliomas with sensorineural hearing loss
p.Leu95fs Single submitter Carney-Stratakis syndrome
p.Leu99fs Single submitter
p.Lys122Ter Single submitter hereditary neoplastic syndrome
p.Pro24fs Single submitter hereditary neoplastic syndrome
p.Ser132Ter Single submitter pheochromocytoma/paraganglioma syndrome 1
p.Ser32Ter Single submitter pheochromocytoma
p.Ser59fs Single submitter pheochromocytoma
p.Ser68fs Single submitter Carney-Stratakis syndrome
p.Thr112fs Single submitter pheochromocytoma
p.Trp5fs Single submitter Cowden syndrome 3
p.Trp66fs Single submitter pheochromocytoma
p.Tyr93del Single submitter hereditary neoplastic syndrome
p.Val111delinsPhePheArgGlyLeuGlnTer Single submitter pheochromocytoma
p.Val46fs Single submitter Carney-Stratakis syndrome
c.1_169del No assertion criteria hereditary pheochromocytoma-paraganglioma
p.Asp113fs No assertion criteria pheochromocytoma/paraganglioma syndrome 1
p.Asp92Gly No assertion criteria mitochondrial complex 2 deficiency, nuclear type 3
p.Trp105fs No assertion criteria hereditary pheochromocytoma-paraganglioma

Pathogenic/Likely pathogenic 21

c.170-2A>G Multiple submitters Cowden syndrome 3
c.315-2A>C Multiple submitters pheochromocytoma/paraganglioma syndrome 1
c.315-2A>T Multiple submitters Carney-Stratakis syndrome
p.Ala130fs Multiple submitters Paragangliomas with sensorineural hearing loss
p.Asp92Tyr Multiple submitters Cowden syndrome 3
p.Cys150fs Multiple submitters hereditary neoplastic syndrome
p.Gln121Ter Multiple submitters Carney-Stratakis syndrome
p.Gly106Asp Multiple submitters Carney-Stratakis syndrome
p.Gly106Val Multiple submitters Paragangliomas with sensorineural hearing loss
p.Gly138Arg Multiple submitters Cowden syndrome 3
p.His102Arg Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.His102Asn Multiple submitters Cowden syndrome 3
p.His102fs Multiple submitters hereditary neoplastic syndrome
p.His102Pro Multiple submitters pheochromocytoma
p.His102Tyr Multiple submitters pheochromocytoma ⚠
p.His50fs Multiple submitters pheochromocytoma
p.Leu107Arg Multiple submitters mitochondrial complex 2 deficiency, nuclear type 3
p.Leu95Pro Multiple submitters hereditary neoplastic syndrome
p.Pro81Leu Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Ser132fs Multiple submitters pheochromocytoma
p.Tyr114Asp Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 27

c.315-1G>A Multiple submitters mitochondrial complex 2 deficiency, nuclear type 3
c.53-2A>G Multiple submitters
p.Arg70Met Multiple submitters SDHD-related disorder
p.Asp92Val Multiple submitters hereditary neoplastic syndrome
p.Leu107Pro Multiple submitters hereditary neoplastic syndrome
c.169+5G>C Single submitter pheochromocytoma
c.314+4A>T Single submitter hereditary neoplastic syndrome
c.315-2A>G Single submitter Carney-Stratakis syndrome
c.44_52+24del Single submitter Carney-Stratakis syndrome
c.53-2A>C Single submitter pheochromocytoma
p.Ala133fs Single submitter Inherited phaeochromocytoma and paraganglioma excluding NF1
p.Ala90_Ser94del Single submitter hereditary pheochromocytoma-paraganglioma
p.Arg38fs Single submitter pheochromocytoma
p.Gly108fs Single submitter
p.Gly148fs Single submitter pheochromocytoma/paraganglioma syndrome 1
p.Leu139Arg Single submitter Paragangliomas with sensorineural hearing loss
p.Leu64fs Single submitter
p.Met91fs Single submitter Inherited phaeochromocytoma and paraganglioma excluding NF1
p.Phe142fs Single submitter pheochromocytoma/paraganglioma syndrome 1
p.Ser73fs Single submitter pheochromocytoma/paraganglioma syndrome 1
p.Trp43Ter Single submitter pheochromocytoma/paraganglioma syndrome 1
p.Tyr114Asn Single submitter hereditary neoplastic syndrome
p.Tyr93dup Single submitter hereditary neoplastic syndrome
p.Val72del Single submitter hereditary neoplastic syndrome
c.315-1681_315-1666del No assertion criteria SDHD-related disorder
p.Ile40fs No assertion criteria pheochromocytoma/paraganglioma syndrome 1
p.Leu139fs No assertion criteria

Conflicting classifications of pathogenicity 50

c.169+5G>A Single submitter hereditary neoplastic syndrome
c.170-18del Single submitter pheochromocytoma/paraganglioma syndrome 1
c.170-20G>T Single submitter hereditary neoplastic syndrome
c.314+3A>C Single submitter Paragangliomas with sensorineural hearing loss
c.314+5G>A Single submitter Cowden syndrome 3
c.315-3T>C Single submitter Carney-Stratakis syndrome
c.53-1_53delinsTT Single submitter pheochromocytoma ⚠
c.53-10C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.53-1G>T Single submitter hereditary neoplastic syndrome ⚠
c.53-7_53-3del Single submitter Carney-Stratakis syndrome
c.53-7T>C Single submitter Cowden syndrome 3
c.*1_*2insTTCATA Single submitter hereditary pheochromocytoma-paraganglioma
c.*5T>C Single submitter Cowden disease
p.Ala18Val Single submitter Cowden syndrome 3 ⚠
p.Ala90Glu Single submitter Paragangliomas with sensorineural hearing loss ⚠
p.Ala90Val Single submitter pheochromocytoma ⚠
p.Arg17= Single submitter Carney-Stratakis syndrome
p.Arg38Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg70Thr Single submitter hereditary neoplastic syndrome ⚠
p.Asp113Val Single submitter pheochromocytoma ⚠
p.Asp118Glu Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp37Val Single submitter Paragangliomas with sensorineural hearing loss ⚠
p.Cys150= Single submitter pheochromocytoma/paraganglioma syndrome 1
p.Glu42= Single submitter Paragangliomas with sensorineural hearing loss
p.Glu42Gly Single submitter Cowden syndrome 3 ⚠
p.Glu69Lys Single submitter pheochromocytoma ⚠
p.Gly127= Single submitter pheochromocytoma
p.Gly138Glu Single submitter Carney-Stratakis syndrome ⚠
p.Gly138Val Single submitter Paragangliomas with sensorineural hearing loss ⚠
p.Gly148Asp Single submitter pheochromocytoma ⚠
p.Gly58= Single submitter hereditary neoplastic syndrome
p.Gly78Arg Single submitter hereditary neoplastic syndrome ⚠
p.His50Asp Single submitter Paragangliomas with sensorineural hearing loss ⚠
p.Ile31Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile40Leu Single submitter mitochondrial complex 2 deficiency, nuclear type 3 ⚠
p.Ile40Thr Single submitter Carney-Stratakis syndrome ⚠
p.Leu4Val Single submitter pheochromocytoma ⚠
p.Leu76= Single submitter hereditary neoplastic syndrome
p.Leu85Phe Single submitter Paragangliomas with sensorineural hearing loss ⚠
p.Phe34Cys Single submitter Carney-Stratakis syndrome ⚠
p.Pro24Ser Single submitter Carney-Stratakis syndrome ⚠
p.Pro81Arg Single submitter paraganglioma ⚠
p.Ser68Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ter160Leu Single submitter Carney-Stratakis syndrome ⚠
p.Thr135= Single submitter Carney-Stratakis syndrome
p.Trp66Cys Single submitter hereditary neoplastic syndrome ⚠
p.Tyr114His Single submitter Cowden syndrome 3 ⚠
p.Tyr144_His145del Single submitter pheochromocytoma
p.Tyr93Cys Single submitter SDHD-related disorder ⚠
p.Val111Ile Single submitter mitochondrial complex 2 deficiency, nuclear type 3 ⚠

Benign 22

c.314+124T>C Multiple submitters hereditary neoplastic syndrome
c.315-1646C>T Multiple submitters
c.315-1669A>G Multiple submitters hereditary neoplastic syndrome
c.315-1708C>T Multiple submitters
c.*260T>A Multiple submitters
c.*613T>C Multiple submitters
c.*803A>G Multiple submitters
c.169+244del Single submitter
c.170-270T>A Single submitter
c.315-1402C>G Single submitter
c.315-1405del Single submitter
c.315-1490T>C Single submitter
c.315-239G>A Single submitter
c.*2C>G Single submitter pheochromocytoma/paraganglioma syndrome 1
c.*3T>C Single submitter pheochromocytoma/paraganglioma syndrome 1
c.*6T>C Single submitter pheochromocytoma/paraganglioma syndrome 1
c.*7T>C Single submitter pheochromocytoma/paraganglioma syndrome 1
p.Ala29= Single submitter pheochromocytoma/paraganglioma syndrome 1
p.Gly108= Single submitter pheochromocytoma/paraganglioma syndrome 1
p.Leu120= Single submitter pheochromocytoma/paraganglioma syndrome 1
p.Leu79= Single submitter pheochromocytoma/paraganglioma syndrome 1
p.Val110= Single submitter pheochromocytoma/paraganglioma syndrome 1

Benign/Likely benign 50

c.170-29A>G Multiple submitters mitochondrial complex 2 deficiency, nuclear type 3
c.314+20del Multiple submitters hereditary neoplastic syndrome
c.315-13del Multiple submitters Carney-Stratakis syndrome
c.315-13dup Multiple submitters pheochromocytoma/paraganglioma syndrome 1
c.315-32T>C Multiple submitters Paragangliomas with sensorineural hearing loss
c.53-52_53-49del Multiple submitters pheochromocytoma
c.*428A>G Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Ala124= Multiple submitters hereditary neoplastic syndrome
p.Ala61= Multiple submitters Paragangliomas with sensorineural hearing loss
p.Ala96= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Ala97= Multiple submitters hereditary neoplastic syndrome
p.Arg27Lys Multiple submitters Cowden syndrome 3
p.Arg38= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Asn143= Multiple submitters hereditary neoplastic syndrome
p.Asp118= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Asp146= Multiple submitters pheochromocytoma
p.Cys88= Multiple submitters pheochromocytoma
p.Gln109= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Gln47= Multiple submitters hereditary neoplastic syndrome
p.Gly106= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Gly117= Multiple submitters hereditary neoplastic syndrome
p.Gly138= Multiple submitters hereditary neoplastic syndrome
p.Gly148= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.His104= Multiple submitters mitochondrial complex 2 deficiency, nuclear type 3
p.His145= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.His50Arg Multiple submitters Carney-Stratakis syndrome ⚠
p.His55= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Ile31= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Leu131= Multiple submitters Carney-Stratakis syndrome
p.Leu156= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Leu19= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Leu64= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Leu77= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Leu99= Multiple submitters pheochromocytoma
p.Lys122= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Lys60= Multiple submitters Carney-Stratakis syndrome
p.Pro53= Multiple submitters Carney-Stratakis syndrome
p.Pro81= Multiple submitters hereditary neoplastic syndrome
p.Ser132= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Ser57= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Ser59= Multiple submitters hereditary neoplastic syndrome
p.Ser68= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Ser94= Multiple submitters Cowden syndrome 3
p.Ter160= Multiple submitters hereditary neoplastic syndrome
p.Thr23= Multiple submitters hereditary neoplastic syndrome
p.Tyr114= Multiple submitters Paragangliomas with sensorineural hearing loss
p.Val115= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Val26= Multiple submitters pheochromocytoma
p.Val46= Multiple submitters pheochromocytoma/paraganglioma syndrome 1
p.Val72= Multiple submitters pheochromocytoma

Likely benign 138

c.170-10C>T Multiple submitters pheochromocytoma
c.170-11C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 1
c.170-12T>C Multiple submitters Carney-Stratakis syndrome
c.170-13G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 1
c.170-14G>C Multiple submitters Carney-Stratakis syndrome
c.170-18A>C Multiple submitters pheochromocytoma/paraganglioma syndrome 1
c.170-19A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 1
c.170-6T>C Multiple submitters hereditary pheochromocytoma-paraganglioma
c.314+7A>T Multiple submitters pheochromocytoma/paraganglioma syndrome 1
c.314+8T>C Multiple submitters Carney-Stratakis syndrome
c.315-14T>C Multiple submitters pheochromocytoma
c.315-4T>G Multiple submitters Cowden syndrome 3
c.315-8T>C Multiple submitters hereditary pheochromocytoma-paraganglioma
c.53-14G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 1
c.53-17A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 1
c.53-20C>T Multiple submitters pheochromocytoma
c.53-5C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 1
c.53-6C>T Multiple submitters Paragangliomas with sensorineural hearing loss
p.Ala130= Multiple submitters pheochromocytoma
p.Ala137= Multiple submitters Carney-Stratakis syndrome
p.Ala2= Multiple submitters pheochromocytoma
p.Ala33= Multiple submitters Cowden syndrome 3
p.Arg70= Multiple submitters hereditary neoplastic syndrome
p.Glu69= Multiple submitters hereditary neoplastic syndrome
p.His30= Multiple submitters hereditary neoplastic syndrome
p.His50= Multiple submitters pheochromocytoma
p.Leu20= Multiple submitters hereditary neoplastic syndrome
p.Leu95= Multiple submitters Carney-Stratakis syndrome
p.Pro24= Multiple submitters hereditary neoplastic syndrome
p.Pro41= Multiple submitters pheochromocytoma
p.Tyr84= Multiple submitters pheochromocytoma
c.169+11T>C Single submitter pheochromocytoma
c.169+13C>T Single submitter pheochromocytoma
c.169+14A>G Single submitter pheochromocytoma
c.169+16C>T Single submitter pheochromocytoma
c.169+17G>A Single submitter Cowden syndrome 3
c.169+20G>T Single submitter Cowden syndrome 3
c.169+34_169+37dup Single submitter
c.169+7TC[2] Single submitter pheochromocytoma
c.169+7TC[4] Single submitter pheochromocytoma
c.169+8C>T Single submitter pheochromocytoma
c.169+9T>G Single submitter pheochromocytoma
c.170-10C>A Single submitter Carney-Stratakis syndrome
c.170-20G>A Single submitter Carney-Stratakis syndrome
c.170-20G>C Single submitter pheochromocytoma
c.170-249C>A Single submitter
c.170-250T>A Single submitter
c.170-37C>T Single submitter
c.170-4del Single submitter hereditary neoplastic syndrome
c.170-5dup Single submitter hereditary neoplastic syndrome
c.170-8T>A Single submitter Paragangliomas with sensorineural hearing loss
c.170-9T>C Single submitter pheochromocytoma
c.314+10G>A Single submitter pheochromocytoma
c.314+12A>G Single submitter pheochromocytoma
c.314+13A>G Single submitter pheochromocytoma
c.314+15T>A Single submitter pheochromocytoma
c.314+17C>G Single submitter pheochromocytoma
c.314+17C>T Single submitter Carney-Stratakis syndrome
c.314+18A>C Single submitter Cowden syndrome 3
c.314+19A>G Single submitter pheochromocytoma
c.314+8T>G Single submitter Carney-Stratakis syndrome
c.315-11T>C Single submitter pheochromocytoma
c.315-12C>A Single submitter pheochromocytoma
c.315-12dup Single submitter Carney-Stratakis syndrome
c.315-1522del Single submitter
c.315-1629C>T Single submitter
c.315-1647T>C Single submitter
c.315-1653C>T Single submitter
c.315-1683C>T Single submitter
c.315-1686C>A Single submitter
c.315-16T>G Single submitter Carney-Stratakis syndrome
c.315-1735T>G Single submitter
c.315-1845A>G Single submitter
c.315-18T>A Single submitter Carney-Stratakis syndrome
c.315-18T>G Single submitter Carney-Stratakis syndrome
c.315-19A>G Single submitter pheochromocytoma
c.315-3del Single submitter Cowden syndrome 3
c.315-50A>G Single submitter
c.315-6C>T Single submitter pheochromocytoma
c.315-9T>G Single submitter pheochromocytoma
c.52+10C>T Single submitter pheochromocytoma
c.52+11T>C Single submitter pheochromocytoma
c.52+18C>T Single submitter Paragangliomas with sensorineural hearing loss
c.52+19C>G Single submitter pheochromocytoma
c.52+6G>A Single submitter pheochromocytoma
c.53-12C>G Single submitter Carney-Stratakis syndrome
c.53-12C>T Single submitter pheochromocytoma
c.53-13A>G Single submitter pheochromocytoma
c.53-15T>C Single submitter Cowden syndrome 3
c.53-18T>A Single submitter pheochromocytoma
c.53-18T>C Single submitter Carney-Stratakis syndrome
c.53-19C>T Single submitter pheochromocytoma/paraganglioma syndrome 1
c.53-4T>C Single submitter pheochromocytoma/paraganglioma syndrome 1
c.53-8_53-7del Single submitter Carney-Stratakis syndrome
c.53-8T>C Single submitter pheochromocytoma/paraganglioma syndrome 1
c.53-9T>C Single submitter pheochromocytoma/paraganglioma syndrome 1
c.*186A>G Single submitter
p.Ala119= Single submitter Carney-Stratakis syndrome
p.Ala123= Single submitter hereditary neoplastic syndrome
p.Ala126= Single submitter Cowden syndrome 3
p.Ala133= Single submitter pheochromocytoma
p.Ala18= Single submitter hereditary neoplastic syndrome
p.Ala62= Single submitter Paragangliomas with sensorineural hearing loss
p.Ala82= Single submitter Carney-Stratakis syndrome
p.Ala83= Single submitter hereditary neoplastic syndrome
p.Ala9= Single submitter pheochromocytoma
p.Ala90= Single submitter Cowden syndrome 3
p.Ala98Thr Single submitter hereditary neoplastic syndrome
p.Asp92= Single submitter Paragangliomas with sensorineural hearing loss
p.Gln121= Single submitter Cowden syndrome 3
p.Gln36= Single submitter pheochromocytoma
p.Gly78= Single submitter hereditary neoplastic syndrome
p.His102= Single submitter hereditary neoplastic syndrome
p.His116= Single submitter Cowden syndrome 3
p.His56= Single submitter hereditary neoplastic syndrome
p.His65= Single submitter pheochromocytoma
p.Ile40= Single submitter hereditary neoplastic syndrome
p.Leu101= Single submitter pheochromocytoma
p.Leu129= Single submitter hereditary neoplastic syndrome
p.Leu159= Single submitter Carney-Stratakis syndrome
p.Leu20Phe Single submitter hereditary neoplastic syndrome
p.Leu75= Single submitter Carney-Stratakis syndrome
p.Lys125= Single submitter Carney-Stratakis syndrome
p.Pro28= Single submitter Carney-Stratakis syndrome
p.Pro87= Single submitter Carney-Stratakis syndrome
p.Ser32= Single submitter hereditary neoplastic syndrome
p.Ser63= Single submitter Carney-Stratakis syndrome
p.Ser73= Single submitter Paragangliomas with sensorineural hearing loss
p.Thr100= Single submitter hereditary neoplastic syndrome
p.Thr112= Single submitter Carney-Stratakis syndrome
p.Thr67= Single submitter Carney-Stratakis syndrome
p.Tyr144= Single submitter hereditary neoplastic syndrome
p.Tyr93= Single submitter hereditary neoplastic syndrome
p.Val153= Single submitter hereditary neoplastic syndrome
p.Val25= Single submitter Cowden syndrome 3
p.Val71= Single submitter Cowden syndrome 3
c.315-1665T>C No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
c.315-1728C>T No assertion criteria SDHD-related disorder

Uncertain significance 376

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

c.169+3A>G Multiple submitters Cowden syndrome 3
c.170-5T>A Multiple submitters Carney-Stratakis syndrome
c.170-6T>G Multiple submitters Carney-Stratakis syndrome
c.315-7_315-5delinsAAA Multiple submitters pheochromocytoma
c.52+5G>A Multiple submitters hereditary neoplastic syndrome
c.52+5G>C Multiple submitters hereditary neoplastic syndrome
c.53-3C>T Multiple submitters hereditary neoplastic syndrome
c.53-6C>A Multiple submitters hereditary pheochromocytoma-paraganglioma
c.53-9_53-6del Multiple submitters Cowden syndrome 3
c.*111A>G Multiple submitters hereditary pheochromocytoma-paraganglioma
c.*762A>G Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Ala119Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala119Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala119Val Multiple submitters Paragangliomas with sensorineural hearing loss ⚠
p.Ala124Ser Multiple submitters pheochromocytoma ⚠
p.Ala124Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala124Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala126Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala126Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala130Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala130Pro Multiple submitters Carney-Stratakis syndrome ⚠
p.Ala133Asp Multiple submitters Cowden syndrome 3 ⚠
p.Ala133Gly Multiple submitters pheochromocytoma ⚠
p.Ala133Pro Multiple submitters pheochromocytoma ⚠
p.Ala133Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala137Val Multiple submitters Carney-Stratakis syndrome ⚠
p.Ala154Val Multiple submitters pheochromocytoma ⚠
p.Ala29Pro Multiple submitters mitochondrial complex 2 deficiency, nuclear type 3 ⚠
p.Ala29Thr Multiple submitters Carney-Stratakis syndrome ⚠
p.Ala2Val Multiple submitters pheochromocytoma ⚠
p.Ala61Pro Multiple submitters Carney-Stratakis syndrome ⚠
p.Ala82Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala82Ser Multiple submitters Cowden syndrome 3 ⚠
p.Ala83Val Multiple submitters Carney-Stratakis syndrome ⚠
p.Ala90Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala90Leu Multiple submitters pheochromocytoma
p.Ala90Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ala97Val Multiple submitters Carney-Stratakis syndrome ⚠
p.Ala98Val Multiple submitters pheochromocytoma ⚠
p.Ala9Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg22Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg22Pro Multiple submitters pheochromocytoma ⚠
p.Arg38Pro Multiple submitters Paragangliomas with sensorineural hearing loss ⚠
p.Arg70Lys Multiple submitters Paragangliomas with sensorineural hearing loss ⚠
p.Asn143Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn143His Multiple submitters pheochromocytoma ⚠
p.Asn143Ser Multiple submitters pheochromocytoma ⚠
p.Asp118Gly Multiple submitters pheochromocytoma ⚠
p.Asp146Asn Multiple submitters Carney-Stratakis syndrome ⚠
p.Asp37Asn Multiple submitters Carney-Stratakis syndrome ⚠
p.Asp92Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys140Tyr Multiple submitters Paragangliomas with sensorineural hearing loss ⚠
p.Cys150Ser Multiple submitters pheochromocytoma ⚠
p.Cys44Tyr Multiple submitters Carney-Stratakis syndrome ⚠
p.Cys88Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln36Arg Multiple submitters Paragangliomas with sensorineural hearing loss ⚠
p.Gln36His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln36Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln47Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu42Lys Multiple submitters Carney-Stratakis syndrome ⚠
p.Gly103Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly108Arg Multiple submitters pheochromocytoma ⚠
p.Gly12Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly16Val Multiple submitters pheochromocytoma ⚠
p.Gly58Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly78Ser Multiple submitters Paragangliomas with sensorineural hearing loss ⚠
p.Gly78Val Multiple submitters Carney-Stratakis syndrome ⚠
p.His104Asp Multiple submitters pheochromocytoma ⚠
p.His116Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His145Asn Multiple submitters pheochromocytoma ⚠
p.His30Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.His30Tyr Multiple submitters Paragangliomas with sensorineural hearing loss ⚠
p.His50Tyr Multiple submitters pheochromocytoma ⚠
p.His55Leu Multiple submitters pheochromocytoma ⚠
p.His56Arg Multiple submitters Carney-Stratakis syndrome ⚠
p.His56Gln Multiple submitters Carney-Stratakis syndrome ⚠
p.His56Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.His65Arg Multiple submitters pheochromocytoma ⚠
p.Ile149Ser Multiple submitters Carney-Stratakis syndrome ⚠
p.Ile149Val Multiple submitters pheochromocytoma ⚠
p.Ile31Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile40Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile49Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile49Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu101Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu101Val Multiple submitters Carney-Stratakis syndrome ⚠
p.Leu107Phe Multiple submitters mitochondrial complex 2 deficiency, nuclear type 3 ⚠
p.Leu129Ser Multiple submitters mitochondrial complex 2 deficiency, nuclear type 3 ⚠
p.Leu131Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu134Val Multiple submitters mitochondrial complex 2 deficiency, nuclear type 3 ⚠
p.Leu19Pro Multiple submitters Carney-Stratakis syndrome ⚠
p.Leu21Phe Multiple submitters Carney-Stratakis syndrome ⚠
p.Leu35Phe Multiple submitters pheochromocytoma ⚠
p.Leu35Pro Multiple submitters Cowden syndrome 3 ⚠
p.Leu4Phe Multiple submitters pheochromocytoma ⚠
p.Leu51Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu64Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu75Ser Multiple submitters mitochondrial complex 2 deficiency, nuclear type 3
p.Leu75Val Multiple submitters pheochromocytoma ⚠
p.Leu76Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu7Arg Multiple submitters pheochromocytoma ⚠
p.Lys122Arg Multiple submitters Cowden syndrome 3 ⚠
p.Lys125Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys125Asn Multiple submitters Cowden syndrome 3 ⚠
p.Lys151Asn Multiple submitters Carney-Stratakis syndrome ⚠
p.Lys60Asn Multiple submitters Carney-Stratakis syndrome ⚠
p.Met155Lys Multiple submitters Paragangliomas with sensorineural hearing loss ⚠
p.Met155Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met91Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Met91Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Met91Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Phe136Leu Multiple submitters Carney-Stratakis syndrome ⚠
p.Phe142Leu Multiple submitters Carney-Stratakis syndrome ⚠
p.Pro24Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro28Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro28His Multiple submitters Carney-Stratakis syndrome ⚠
p.Pro28Ser Multiple submitters Carney-Stratakis syndrome ⚠
p.Pro28Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro39Leu Multiple submitters Carney-Stratakis syndrome ⚠
p.Pro39Thr Multiple submitters Paragangliomas with sensorineural hearing loss ⚠
p.Pro41Ala Multiple submitters pheochromocytoma ⚠
p.Pro41Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro53Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro53del Multiple submitters pheochromocytoma
p.Pro53Leu Multiple submitters Paragangliomas with sensorineural hearing loss ⚠
p.Pro87Ser Multiple submitters pheochromocytoma ⚠
p.Pro87Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ser132Ala Multiple submitters Carney-Stratakis syndrome ⚠
p.Ser54Arg Multiple submitters Carney-Stratakis syndrome ⚠
p.Ser57Cys Multiple submitters Paragangliomas with sensorineural hearing loss ⚠
p.Ser57Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser59Phe Multiple submitters Cowden syndrome 3 ⚠
p.Ser59Pro Multiple submitters mitochondrial complex 2 deficiency, nuclear type 3 ⚠
p.Ser63Pro Multiple submitters pheochromocytoma ⚠
p.Ser73Asn Multiple submitters Cowden syndrome 3 ⚠
p.Ser73Gly Multiple submitters pheochromocytoma ⚠
p.Ser94Cys Multiple submitters mitochondrial complex 2 deficiency, nuclear type 3 ⚠
p.Ser94Phe Multiple submitters Cowden syndrome 3 ⚠
p.Ter160Arg Multiple submitters hereditary neoplastic syndrome
p.Ter160Trp Multiple submitters Carney-Stratakis syndrome
p.Thr100Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr100Ile Multiple submitters Carney-Stratakis syndrome ⚠
p.Thr112Ile Multiple submitters Cowden syndrome 3 ⚠
p.Trp157Ter Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Trp5Arg Multiple submitters pheochromocytoma ⚠
p.Trp66Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr141Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr141His Multiple submitters Carney-Stratakis syndrome ⚠
p.Tyr144Cys Multiple submitters Carney-Stratakis syndrome ⚠
p.Tyr144His Multiple submitters Cowden syndrome 3 ⚠
p.Tyr144Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr84Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr93His Multiple submitters Cowden syndrome 3 ⚠
p.Val10Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Val110Ile Multiple submitters mitochondrial complex 2 deficiency, nuclear type 3 ⚠
p.Val111Ala Multiple submitters mitochondrial complex 2 deficiency, nuclear type 3 ⚠
p.Val115Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Val147Met Multiple submitters Paragangliomas with sensorineural hearing loss ⚠
p.Val153Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Val25Leu Multiple submitters Carney-Stratakis syndrome ⚠
p.Val3Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Val46Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Val46Met Multiple submitters Cowden syndrome 3 ⚠
p.Val71Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Val71Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Val72Phe Multiple submitters pheochromocytoma ⚠
p.Val74Ile Multiple submitters hereditary neoplastic syndrome ⚠
c.169+6T>G Single submitter pheochromocytoma
c.170-12T>A Single submitter pheochromocytoma
c.314+1638G>T Single submitter pheochromocytoma
c.314+2C>T Single submitter Carney-Stratakis syndrome
c.314+3A>G Single submitter hereditary neoplastic syndrome
c.314+4A>G Single submitter pheochromocytoma
c.314+6T>C Single submitter pheochromocytoma
c.315-1594C>T Single submitter hereditary neoplastic syndrome
c.315-1696G>C Single submitter SDHD-related disorder
c.315-1697C>T Single submitter
c.315-5T>C Single submitter hereditary neoplastic syndrome
c.52+3G>C Single submitter pheochromocytoma
c.53-10_53-9del Single submitter pheochromocytoma
c.53-11T>C Single submitter Cowden syndrome 3
c.53-16A>G Single submitter Carney-Stratakis syndrome
c.53-27T>G Single submitter hereditary neoplastic syndrome
c.*302A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.*587A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.*648A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.*663A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.*669T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.*71C>A Single submitter hereditary pheochromocytoma-paraganglioma
c.*738T>A Single submitter hereditary pheochromocytoma-paraganglioma
c.*815T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.*822T>C Single submitter
c.*93A>G Single submitter hereditary pheochromocytoma-paraganglioma
p.Ala119Asp Single submitter Carney-Stratakis syndrome ⚠
p.Ala126Ser Single submitter Cowden syndrome 3 ⚠
p.Ala126Val Single submitter pheochromocytoma ⚠
p.Ala130Ser Single submitter Cowden syndrome 3 ⚠
p.Ala130Val Single submitter Cowden syndrome 3 ⚠
p.Ala137Pro Single submitter pheochromocytoma ⚠
p.Ala137Thr Single submitter pheochromocytoma ⚠
p.Ala13Ser Single submitter pheochromocytoma
p.Ala152_Met155delinsVal Single submitter Cowden syndrome 3
p.Ala152Thr Single submitter Carney-Stratakis syndrome ⚠
p.Ala154Gly Single submitter pheochromocytoma ⚠
p.Ala154Thr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ala29Val Single submitter pheochromocytoma ⚠
p.Ala2Thr Single submitter Paragangliomas with sensorineural hearing loss ⚠
p.Ala33Glu Single submitter Paragangliomas with sensorineural hearing loss ⚠
p.Ala33Thr Single submitter pheochromocytoma ⚠
p.Ala33Val Single submitter ⚠
p.Ala61Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala61Val Single submitter Carney-Stratakis syndrome ⚠
p.Ala62Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala83Thr Single submitter pheochromocytoma ⚠
p.Ala90Thr Single submitter pheochromocytoma ⚠
p.Ala96_Leu99del Single submitter pheochromocytoma
p.Ala96Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala96Thr Single submitter Carney-Stratakis syndrome ⚠
p.Ala97Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala98del Single submitter Paragangliomas with sensorineural hearing loss
p.Ala98Pro Single submitter Carney-Stratakis syndrome ⚠
p.Ala98Ser Single submitter Cowden syndrome 3 ⚠
p.Arg22= Single submitter Carney-Stratakis syndrome
p.Arg27Ser Single submitter pheochromocytoma ⚠
p.Arg27Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg38Leu Single submitter Cowden syndrome 3 ⚠
p.Arg6Gly Single submitter Carney-Stratakis syndrome ⚠
p.Arg70Ser Single submitter pheochromocytoma ⚠
p.Asn86Thr Single submitter pheochromocytoma ⚠
p.Asp113Gly Single submitter Carney-Stratakis syndrome ⚠
p.Asp113His Single submitter Paragangliomas with sensorineural hearing loss ⚠
p.Asp118Ala Single submitter Cowden syndrome 3 ⚠
p.Asp118Asn Single submitter pheochromocytoma ⚠
p.Asp118Ile Single submitter Cowden syndrome 3
p.Asp146His Single submitter ⚠
p.Asp146Tyr Single submitter pheochromocytoma ⚠
p.Asp37Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asp92Asn Single submitter Carney-Stratakis syndrome ⚠
p.Cys88Trp Single submitter hereditary neoplastic syndrome ⚠
p.Gln121Lys Single submitter hereditary neoplastic syndrome ⚠
p.Gln47Pro Single submitter hereditary neoplastic syndrome ⚠
p.Gly103Asp Single submitter pheochromocytoma ⚠
p.Gly103Ser Single submitter pheochromocytoma ⚠
p.Gly106Ser Single submitter mitochondrial complex 2 deficiency, nuclear type 3 ⚠
p.Gly108Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly108Val Single submitter Carney-Stratakis syndrome
p.Gly127Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly127Glu Single submitter Cowden syndrome 3 ⚠
p.Gly12Cys Single submitter pheochromocytoma ⚠
p.Gly12Val Single submitter Carney-Stratakis syndrome ⚠
p.Gly16Arg Single submitter pheochromocytoma ⚠
p.Gly45Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly45Glu Single submitter pheochromocytoma ⚠
p.Gly45Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Gly58Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly58Asp Single submitter pheochromocytoma ⚠
p.Gly58Ser Single submitter pheochromocytoma ⚠
p.Gly78Asp Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.His104Pro Single submitter pheochromocytoma ⚠
p.His116Arg Single submitter hereditary neoplastic syndrome ⚠
p.His116Leu Single submitter Paragangliomas with sensorineural hearing loss ⚠
p.His145Gln Single submitter hereditary neoplastic syndrome ⚠
p.His145Tyr Single submitter pheochromocytoma ⚠
p.His30Asp Single submitter hereditary neoplastic syndrome ⚠
p.His30delinsGlnGln Single submitter hereditary neoplastic syndrome
p.His30Gln Single submitter hereditary neoplastic syndrome ⚠
p.His48Gln Single submitter hereditary neoplastic syndrome ⚠
p.His50Asn Single submitter hereditary neoplastic syndrome ⚠
p.His50Gln Single submitter Paragangliomas with sensorineural hearing loss ⚠
p.His55Arg Single submitter pheochromocytoma ⚠
p.His55Tyr Single submitter hereditary neoplastic syndrome ⚠
p.His65Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.His65Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Ile40Met Single submitter Paragangliomas with sensorineural hearing loss ⚠
p.Ile49Met Single submitter Paragangliomas with sensorineural hearing loss ⚠
p.Leu101His Single submitter pheochromocytoma ⚠
p.Leu107His Single submitter hereditary neoplastic syndrome ⚠
p.Leu107Val Single submitter ⚠
p.Leu120Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu129Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu129Trp Single submitter Carney-Stratakis syndrome ⚠
p.Leu156Val Single submitter Cowden syndrome 3 ⚠
p.Leu159Arg Single submitter hereditary neoplastic syndrome ⚠
p.Leu159Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu159Pro Single submitter Carney-Stratakis syndrome ⚠
p.Leu19Val Single submitter pheochromocytoma ⚠
p.Leu20Met Single submitter Carney-Stratakis syndrome ⚠
p.Leu20Ser Single submitter hereditary neoplastic syndrome ⚠
p.Leu20Trp Single submitter hereditary neoplastic syndrome ⚠
p.Leu21Pro Single submitter Paragangliomas with sensorineural hearing loss ⚠
p.Leu64Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu75Phe Single submitter pheochromocytoma ⚠
p.Leu76Pro Single submitter Cowden syndrome 3 ⚠
p.Leu77Gln Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Leu77Met Single submitter pheochromocytoma ⚠
p.Leu77Pro Single submitter pheochromocytoma ⚠
p.Leu79Arg Single submitter ⚠
p.Leu79Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu7Pro Single submitter pheochromocytoma ⚠
p.Leu7Val Single submitter hereditary neoplastic syndrome ⚠