SDHAF2 — 685 ClinVar variants

All ClinVar germline SDHAF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 338 flagged for review →

17 Pathogenic · 13 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 49 Conflicting · 11 Benign · 11 Benign/Likely benign · 180 Likely benign · 390 Uncertain significance

Full SDHAF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 338

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

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

SDHAF2 p.Glu124Gln Likely pathogenic Single submitter

Predictors agree, ClinVar conflicts 23

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

SDHAF2 p.Ala90Val Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg107His Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Arg166His Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Arg18Gly Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Arg32Ser Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Asn103Lys Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Asp38Glu Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Glu111Lys Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Glu159Ala Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Gly78Glu Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.His93Tyr Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Lys164Glu Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ser27Asn Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Ser4Cys Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ser62Ala Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Thr41Ala Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Thr5Ala Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Thr65Ile Conflicting Single submitter
pheochromocytoma/paraganglioma syndrome 2
SDHAF2 p.Thr65Ser Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Thr9Ala Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Thr9Ile Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Val28Glu Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Val3Leu Conflicting Single submitter
hereditary neoplastic syndrome

Predicted LoF vs a conflicting call 15

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.

SDHAF2 c.370+2T>A Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 c.371-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Asn148fs Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Glu111Ter Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Lys149fs Conflicting Single submitter
pheochromocytoma/paraganglioma syndrome 2
SDHAF2 p.Met137fs Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Met1Thr Conflicting Single submitter
pheochromocytoma/paraganglioma syndrome 2
SDHAF2 p.Phe132fs Conflicting Single submitter
pheochromocytoma/paraganglioma syndrome 2
SDHAF2 p.Ser10fs Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Ser11Ter Conflicting Single submitter
pheochromocytoma/paraganglioma syndrome 2
SDHAF2 p.Ser8Ter Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Trp116Ter Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Trp121Ter Conflicting Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Tyr119fs Conflicting Single submitter
SDHAF2-related disorder
SDHAF2 p.Tyr119Ter Conflicting Single submitter
hereditary neoplastic syndrome

Predictors lean, ClinVar uncertain 266

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 266

SDHAF2 p.Ala128Pro Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ala128Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ala144Pro Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ala144Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ala15Pro Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ala2Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ala2Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ala90Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Arg141Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Arg152Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Arg154Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Arg154His Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg166Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Arg166Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Arg32Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Arg33His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Arg33Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Arg36Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Arg67Gly Uncertain significance Multiple submitters
pheochromocytoma/paraganglioma syndrome 2
SDHAF2 p.Arg67Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Arg67Lys Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg69Cys Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg69His Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg69Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Asn110Lys Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Asn134Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Asn146Ser Uncertain significance Multiple submitters
pheochromocytoma/paraganglioma syndrome 2
SDHAF2 p.Asn148Lys Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Asn82Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Asn82Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Asp117Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Asp117Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Asp117Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Asp157Tyr Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Asp42Asn Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Asp46Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Asp60Asn Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Cys83Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Cys83Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Gln151Arg Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Gln151Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Gln44Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Gln95Arg Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Glu133Gln Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Glu150Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Glu159Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Glu57Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Glu57Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Glu64Lys Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Glu73Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Glu92Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.His93Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.His96Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ile109Met Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ile109Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ile131Leu Uncertain significance Multiple submitters
pheochromocytoma/paraganglioma syndrome 2
SDHAF2 p.Ile63Thr Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ile63Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Leu104Phe Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Leu12Pro Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Leu139Met Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Leu14Phe Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Leu22Phe Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Leu71Pro Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Leu80Phe Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Leu80Ser Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Lys100Glu Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Lys45Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Lys66Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Met137Lys Uncertain significance Multiple submitters
pheochromocytoma/paraganglioma syndrome 2
SDHAF2 p.Met13Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Met13Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Met13Val Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Met47Val Uncertain significance Multiple submitters
pheochromocytoma/paraganglioma syndrome 2
SDHAF2 p.Met79Val Uncertain significance Multiple submitters
pheochromocytoma/paraganglioma syndrome 2
SDHAF2 p.Met97Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Phe143Ile Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Phe143Ser Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Phe31Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Phe34Leu Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Phe34Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Phe7Leu Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Phe89Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Pro112Thr Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Pro127Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Pro129Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Pro129Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Pro156Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Pro156Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Pro40Leu Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Pro51Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Pro53Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Pro53Thr Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Pro54Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ser10Leu Uncertain significance Multiple submitters
pheochromocytoma/paraganglioma syndrome 2
SDHAF2 p.Ser113Asn Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ser11Trp Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ser17Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ser17Pro Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ser27Gly Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ser30Pro Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ser39Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ser43Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ser4Phe Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ser62Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ser74Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ser8Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ser8Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Thr41Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Thr59Ala Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Thr59Ile Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Thr5Ile Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Trp116Cys Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Trp55Arg Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Tyr105Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Tyr105Cys Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Tyr120Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Tyr35His Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Tyr35Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Tyr72Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Val28Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Val28Met Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Val3Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Val6Ala Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Val6Gly Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ala125Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Ala128Asp Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Ala128Thr Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ala138Thr Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ala15Ser Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ala2Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Ala2Thr Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ala68Val Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Arg107Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Arg18Lys Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg32Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Arg33Pro Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg58Lys Uncertain significance Single submitter
pheochromocytoma/paraganglioma syndrome 2
SDHAF2 p.Arg58Ser Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg69Pro Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg75Gly Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg75Lys Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg75Thr Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Asn103Tyr Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Asn110Tyr Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Asn114Asp Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Asn146Lys Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Asp106Asn Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Asp106Glu Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Asp106Gly Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma

Predictors split 33

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

SDHAF2 p.Ala155Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Arg107Cys Benign/Likely benign Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg77Lys Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg77Thr Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Asp142Tyr Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Glu150Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.His93Gln Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.His96Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ile84Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Leu85Ile Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Met137Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Phe132Leu Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Pro51Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Pro51Leu Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Ser113Gly Uncertain significance Multiple submitters
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Tyr160His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
SDHAF2 p.Ala138Pro Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Arg152Thr Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Glu124Lys Conflicting Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Glu133Ala Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Glu133Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Ile50Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Leu153Pro Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Leu158Pro Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Leu88Pro Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Lys126Gln Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Lys149Thr Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Lys66Arg Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma
SDHAF2 p.Met79Ile Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Ser39Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Ser87Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Ser87Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
SDHAF2 p.Val6Glu Uncertain significance Single submitter
hereditary pheochromocytoma-paraganglioma

All SDHAF2 variants

Pathogenic 17

p.Arg67fs Multiple submitters pheochromocytoma/paraganglioma syndrome 2
p.Asp42fs Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Gln56Ter Multiple submitters hereditary neoplastic syndrome
p.Gln95Ter Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Gly78Arg Multiple submitters hereditary neoplastic syndrome
p.Tyr105fs Multiple submitters hereditary neoplastic syndrome
c.260+2T>A Single submitter
p.Arg69fs Single submitter hereditary neoplastic syndrome
p.Asp60Ter Single submitter hereditary pheochromocytoma-paraganglioma
p.Gln56fs Single submitter hereditary pheochromocytoma-paraganglioma
p.Glu64fs Single submitter hereditary neoplastic syndrome
p.Gly37fs Single submitter
p.Gly78fs Single submitter hereditary neoplastic syndrome
p.Leu71_Tyr72insTer Single submitter hereditary pheochromocytoma-paraganglioma
p.Leu71fs Single submitter hereditary neoplastic syndrome
p.Ser30Ter Single submitter hereditary pheochromocytoma-paraganglioma
p.Tyr72Ter Single submitter hereditary pheochromocytoma-paraganglioma

Pathogenic/Likely pathogenic 13

c.37-1G>C Multiple submitters hereditary pheochromocytoma-paraganglioma
c.37-2A>G Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Ala90fs Multiple submitters pheochromocytoma/paraganglioma syndrome 2
p.Arg77fs Multiple submitters Inherited phaeochromocytoma and paraganglioma excluding NF1
p.Asn103fs Multiple submitters hereditary neoplastic syndrome
p.Gln44Ter Multiple submitters hereditary neoplastic syndrome
p.Glu99fs Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Leu26fs Multiple submitters hereditary neoplastic syndrome
p.Phe89fs Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Ser10Ter Multiple submitters pheochromocytoma/paraganglioma syndrome 2
p.Ser4fs Multiple submitters pheochromocytoma/paraganglioma syndrome 2
p.Trp55Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr105Ter Multiple submitters hereditary pheochromocytoma-paraganglioma

Likely pathogenic 14

c.260+1G>A Multiple submitters hereditary neoplastic syndrome
c.261-2A>G Multiple submitters hereditary pheochromocytoma-paraganglioma
c.261-2A>T Multiple submitters hereditary neoplastic syndrome
c.370+1G>T Multiple submitters pheochromocytoma/paraganglioma syndrome 2
p.Ala15fs Multiple submitters pheochromocytoma/paraganglioma syndrome 2
c.260+1G>C Single submitter hereditary pheochromocytoma-paraganglioma
c.260+2T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.261-1G>T Single submitter hereditary pheochromocytoma-paraganglioma
c.36+1G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.37-2607_61del Single submitter hereditary neoplastic syndrome
p.Gln101Ter Single submitter pheochromocytoma/paraganglioma syndrome 2
p.Glu124Gln Single submitter ⚠
p.Leu16fs Single submitter hereditary neoplastic syndrome
p.Val136fs Single submitter pheochromocytoma/paraganglioma syndrome 2

Conflicting classifications of pathogenicity 49

c.260+3A>G Single submitter hereditary neoplastic syndrome
c.261-10T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.370+2T>A Single submitter hereditary neoplastic syndrome ⚠
c.371-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.371-4G>T Single submitter hereditary neoplastic syndrome
c.371-9C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.-1A>C Single submitter hereditary pheochromocytoma-paraganglioma
p.Ala155= Single submitter hereditary neoplastic syndrome
p.Ala90Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg107His Single submitter hereditary neoplastic syndrome ⚠
p.Arg166His Single submitter hereditary neoplastic syndrome ⚠
p.Arg18Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg32Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn103Lys Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asn114Ser Single submitter hereditary neoplastic syndrome
p.Asn148fs Single submitter hereditary neoplastic syndrome ⚠
p.Asp38Glu Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Cys83= Single submitter hereditary pheochromocytoma-paraganglioma
p.Glu111Lys Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Glu111Ter Single submitter hereditary neoplastic syndrome ⚠
p.Glu124Lys Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Glu159Ala Single submitter hereditary neoplastic syndrome ⚠
p.Gly78Glu Single submitter hereditary neoplastic syndrome ⚠
p.His19= Single submitter hereditary neoplastic syndrome
p.His93Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Lys149fs Single submitter pheochromocytoma/paraganglioma syndrome 2 ⚠
p.Lys164Glu Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Met137fs Single submitter hereditary neoplastic syndrome ⚠
p.Met1Thr Single submitter pheochromocytoma/paraganglioma syndrome 2 ⚠
p.Phe132fs Single submitter pheochromocytoma/paraganglioma syndrome 2 ⚠
p.Ser10fs Single submitter hereditary neoplastic syndrome ⚠
p.Ser11Ter Single submitter pheochromocytoma/paraganglioma syndrome 2 ⚠
p.Ser27Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ser4Cys Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ser62Ala Single submitter hereditary neoplastic syndrome ⚠
p.Ser8Ter Single submitter hereditary neoplastic syndrome ⚠
p.Thr41Ala Single submitter hereditary neoplastic syndrome ⚠
p.Thr5Ala Single submitter hereditary neoplastic syndrome ⚠
p.Thr65Ile Single submitter pheochromocytoma/paraganglioma syndrome 2 ⚠
p.Thr65Ser Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Thr9Ala Single submitter hereditary neoplastic syndrome ⚠
p.Thr9Ile Single submitter hereditary neoplastic syndrome ⚠
p.Trp116Ter Single submitter hereditary neoplastic syndrome ⚠
p.Trp121Ter Single submitter hereditary neoplastic syndrome ⚠
p.Tyr119fs Single submitter SDHAF2-related disorder ⚠
p.Tyr119Ter Single submitter hereditary neoplastic syndrome ⚠
p.Tyr120= Single submitter hereditary neoplastic syndrome
p.Val28Glu Single submitter hereditary neoplastic syndrome ⚠
p.Val3Leu Single submitter hereditary neoplastic syndrome ⚠

Benign 11

c.261-42G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 2
c.*377T>C Multiple submitters hereditary pheochromocytoma-paraganglioma
c.*415A>G Multiple submitters hereditary pheochromocytoma-paraganglioma
c.260+25_260+26dup Single submitter hereditary pheochromocytoma-paraganglioma
c.260+26del Single submitter hereditary pheochromocytoma-paraganglioma
c.261-19_261-16del Single submitter hereditary pheochromocytoma-paraganglioma
c.370+103dup Single submitter
c.*378G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.*456A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.*657A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.*76C>T Single submitter hereditary pheochromocytoma-paraganglioma

Benign/Likely benign 11

c.260+12G>A Multiple submitters hereditary pheochromocytoma-paraganglioma
c.260+26dup Multiple submitters hereditary pheochromocytoma-paraganglioma
c.36+10G>A Multiple submitters hereditary pheochromocytoma-paraganglioma
c.36+17T>C Multiple submitters hereditary pheochromocytoma-paraganglioma
c.*12C>T Multiple submitters hereditary neoplastic syndrome
c.*49A>G Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Arg107Cys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Arg33Cys Multiple submitters hereditary neoplastic syndrome
p.Asn103= Multiple submitters hereditary neoplastic syndrome
p.Asn110= Multiple submitters hereditary neoplastic syndrome
p.Ser11Leu Multiple submitters hereditary neoplastic syndrome

Likely benign 180

c.261-8G>C Multiple submitters hereditary pheochromocytoma-paraganglioma
c.370+12G>A Multiple submitters hereditary pheochromocytoma-paraganglioma
c.371-12C>G Multiple submitters hereditary pheochromocytoma-paraganglioma
c.-11A>G Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Ala122= Multiple submitters hereditary neoplastic syndrome
p.Ala125= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Ala138= Multiple submitters hereditary neoplastic syndrome
p.Ala2= Multiple submitters hereditary neoplastic syndrome
p.Arg107= Multiple submitters hereditary neoplastic syndrome
p.Arg141= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Arg152= Multiple submitters hereditary neoplastic syndrome
p.Arg32= Multiple submitters hereditary neoplastic syndrome
p.Arg33= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Arg69= Multiple submitters hereditary neoplastic syndrome
p.Arg75= Multiple submitters hereditary neoplastic syndrome
p.Asp46= Multiple submitters hereditary neoplastic syndrome
p.Gln151= Multiple submitters hereditary neoplastic syndrome
p.Gln44= Multiple submitters hereditary neoplastic syndrome
p.Gln95= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Glu150= Multiple submitters hereditary neoplastic syndrome
p.Glu159= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Glu57= Multiple submitters hereditary neoplastic syndrome
p.Glu73= Multiple submitters hereditary neoplastic syndrome
p.Gly78= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.His93= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Ile109= Multiple submitters hereditary neoplastic syndrome
p.Ile118= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Leu108= Multiple submitters hereditary neoplastic syndrome
p.Leu161= Multiple submitters hereditary neoplastic syndrome
p.Leu21= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Leu22= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Leu52= Multiple submitters hereditary neoplastic syndrome
p.Leu80= Multiple submitters hereditary neoplastic syndrome
p.Lys100= Multiple submitters hereditary neoplastic syndrome
p.Lys126= Multiple submitters hereditary neoplastic syndrome
p.Lys145= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Lys45= Multiple submitters hereditary neoplastic syndrome
p.Lys66= Multiple submitters hereditary neoplastic syndrome
p.Lys91= Multiple submitters hereditary neoplastic syndrome
p.Phe7= Multiple submitters hereditary neoplastic syndrome
p.Pro112= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Pro129= Multiple submitters hereditary neoplastic syndrome
p.Pro54= Multiple submitters hereditary neoplastic syndrome
p.Ser23= Multiple submitters hereditary neoplastic syndrome
p.Ser30= Multiple submitters hereditary neoplastic syndrome
p.Ser43= Multiple submitters hereditary neoplastic syndrome
p.Ser8= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Thr9= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Tyr105= Multiple submitters hereditary neoplastic syndrome
p.Tyr160= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Val3= Multiple submitters hereditary neoplastic syndrome
p.Val6= Multiple submitters hereditary pheochromocytoma-paraganglioma
c.260+10T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.260+10T>G Single submitter hereditary pheochromocytoma-paraganglioma
c.260+11A>C Single submitter hereditary pheochromocytoma-paraganglioma
c.260+13G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.260+14A>T Single submitter hereditary pheochromocytoma-paraganglioma
c.260+15G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.260+16T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.260+18_260+19insC Single submitter hereditary pheochromocytoma-paraganglioma
c.260+7G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.260+7G>C Single submitter hereditary pheochromocytoma-paraganglioma
c.260+7G>T Single submitter hereditary pheochromocytoma-paraganglioma
c.260+9C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.261-13T>G Single submitter hereditary pheochromocytoma-paraganglioma
c.261-15C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.261-16T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.261-18T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.261-21_261-16del Single submitter hereditary pheochromocytoma-paraganglioma
c.261-8del Single submitter hereditary pheochromocytoma-paraganglioma
c.261-8G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.261-9del Single submitter hereditary pheochromocytoma-paraganglioma
c.36+10G>C Single submitter hereditary pheochromocytoma-paraganglioma
c.36+11A>C Single submitter hereditary pheochromocytoma-paraganglioma
c.36+12G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.36+12G>C Single submitter hereditary pheochromocytoma-paraganglioma
c.36+13A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.36+14A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.36+14A>T Single submitter hereditary pheochromocytoma-paraganglioma
c.36+15C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.36+15C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.36+16G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.36+16G>T Single submitter hereditary pheochromocytoma-paraganglioma
c.36+19C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.36+20T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.36+284C>T Single submitter
c.36+6G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.36+6GA[2] Single submitter hereditary pheochromocytoma-paraganglioma
c.36+7_36+9del Single submitter hereditary pheochromocytoma-paraganglioma
c.36+7A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.36+9A>T Single submitter hereditary pheochromocytoma-paraganglioma
c.37-12T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.37-176G>A Single submitter
c.37-17dup Single submitter hereditary pheochromocytoma-paraganglioma
c.37-18G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.37-20T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.37-20T>G Single submitter hereditary pheochromocytoma-paraganglioma
c.37-6T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.37-772G>A Single submitter
c.37-793A>G Single submitter
c.37-7A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.37-8del Single submitter hereditary pheochromocytoma-paraganglioma
c.370+10A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.370+10A>T Single submitter hereditary pheochromocytoma-paraganglioma
c.370+12G>T Single submitter hereditary pheochromocytoma-paraganglioma
c.370+160C>T Single submitter
c.370+16A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.370+17G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.370+19A>C Single submitter hereditary pheochromocytoma-paraganglioma
c.370+20G>T Single submitter hereditary pheochromocytoma-paraganglioma
c.370+22A>G Single submitter
c.370+7G>C Single submitter hereditary pheochromocytoma-paraganglioma
c.370+8G>C Single submitter hereditary pheochromocytoma-paraganglioma
c.371-10T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.371-12C>A Single submitter hereditary pheochromocytoma-paraganglioma
c.371-13T>A Single submitter hereditary pheochromocytoma-paraganglioma
c.371-15_371-13del Single submitter hereditary pheochromocytoma-paraganglioma
c.371-15A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.371-17C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.371-18C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.371-19G>T Single submitter hereditary pheochromocytoma-paraganglioma
c.371-6T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.371-7C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.371-7C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.-50G>T Single submitter
p.Ala144= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ala15= Single submitter hereditary neoplastic syndrome
p.Ala15Val Single submitter hereditary neoplastic syndrome
p.Ala90= Single submitter hereditary pheochromocytoma-paraganglioma
p.Arg166= Single submitter hereditary neoplastic syndrome
p.Arg18= Single submitter hereditary neoplastic syndrome
p.Arg36= Single submitter hereditary neoplastic syndrome
p.Arg67= Single submitter hereditary neoplastic syndrome
p.Arg77= Single submitter hereditary neoplastic syndrome
p.Asp157= Single submitter hereditary pheochromocytoma-paraganglioma
p.Asp38= Single submitter hereditary neoplastic syndrome
p.Asp42= Single submitter hereditary pheochromocytoma-paraganglioma
p.Asp60= Single submitter hereditary pheochromocytoma-paraganglioma
p.Glu111= Single submitter hereditary neoplastic syndrome
p.Glu124= Single submitter hereditary neoplastic syndrome
p.His96= Single submitter hereditary pheochromocytoma-paraganglioma
p.Leu104= Single submitter hereditary pheochromocytoma-paraganglioma
p.Leu12= Single submitter hereditary pheochromocytoma-paraganglioma
p.Leu139= Single submitter hereditary pheochromocytoma-paraganglioma
p.Leu140= Single submitter hereditary pheochromocytoma-paraganglioma
p.Leu153= Single submitter hereditary neoplastic syndrome
p.Leu16= Single submitter hereditary neoplastic syndrome
p.Leu25= Single submitter hereditary pheochromocytoma-paraganglioma
p.Leu70= Single submitter hereditary neoplastic syndrome
p.Leu71= Single submitter hereditary neoplastic syndrome
p.Leu86= Single submitter hereditary neoplastic syndrome
p.Leu88= Single submitter hereditary neoplastic syndrome
p.Leu94= Single submitter hereditary neoplastic syndrome
p.Lys76= Single submitter hereditary pheochromocytoma-paraganglioma
p.Phe143= Single submitter hereditary neoplastic syndrome
p.Phe162= Single submitter hereditary neoplastic syndrome
p.Phe89= Single submitter hereditary pheochromocytoma-paraganglioma
p.Pro127= Single submitter hereditary neoplastic syndrome
p.Pro156= Single submitter hereditary neoplastic syndrome
p.Pro165= Single submitter hereditary neoplastic syndrome
p.Pro24= Single submitter hereditary neoplastic syndrome
p.Pro40= Single submitter hereditary neoplastic syndrome
p.Pro51= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ser10= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ser11= Single submitter hereditary neoplastic syndrome
p.Ser17= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ser39= Single submitter hereditary neoplastic syndrome
p.Ser4= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ser62= Single submitter hereditary neoplastic syndrome
p.Ser74= Single submitter hereditary pheochromocytoma-paraganglioma
p.Ser8Pro Single submitter hereditary neoplastic syndrome
p.Ter167= Single submitter hereditary neoplastic syndrome
p.Thr5= Single submitter hereditary neoplastic syndrome
p.Thr59= Single submitter hereditary neoplastic syndrome
p.Thr65= Single submitter hereditary pheochromocytoma-paraganglioma
p.Thr98= Single submitter hereditary pheochromocytoma-paraganglioma
p.Tyr35= Single submitter hereditary neoplastic syndrome
p.Tyr72= Single submitter hereditary pheochromocytoma-paraganglioma
p.Val136= Single submitter hereditary neoplastic syndrome
p.Val28= Single submitter hereditary neoplastic syndrome

Uncertain significance 390

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

c.36+3G>A Multiple submitters hereditary neoplastic syndrome
c.366_370+9del Multiple submitters hereditary pheochromocytoma-paraganglioma
c.37-5T>C Multiple submitters hereditary neoplastic syndrome
c.370+2T>C Multiple submitters hereditary pheochromocytoma-paraganglioma
c.370+3A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 2
c.370+4C>G Multiple submitters hereditary pheochromocytoma-paraganglioma
c.370+6G>A Multiple submitters hereditary pheochromocytoma-paraganglioma
c.*2C>A Multiple submitters hereditary pheochromocytoma-paraganglioma
c.*476C>T Multiple submitters hereditary pheochromocytoma-paraganglioma
p.146NK[1] Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Ala122Ser Multiple submitters hereditary neoplastic syndrome
p.Ala128Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ala128Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala144Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ala144Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala155Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala15Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ala2Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala90Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg107Leu Multiple submitters hereditary neoplastic syndrome
p.Arg141Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg152Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg154Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg154His Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Arg166Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg166Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg32Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg33His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg33Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg36Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg67Gly Multiple submitters pheochromocytoma/paraganglioma syndrome 2 ⚠
p.Arg67Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg67Lys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Arg69Cys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Arg69His Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Arg69Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg77Lys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Arg77Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Asn110Lys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Asn110Ser Multiple submitters hereditary neoplastic syndrome
p.Asn134Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn146Ser Multiple submitters pheochromocytoma/paraganglioma syndrome 2 ⚠
p.Asn148Lys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Asn82Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn82Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp117Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp117Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp117Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp142Tyr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Asp157Tyr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Asp42Asn Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Asp46Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp60Asn Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Cys83Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys83Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln151Arg Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Gln151Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln44Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln95Arg Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Glu133Gln Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Glu150Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu150Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu150Lys Multiple submitters hereditary neoplastic syndrome
p.Glu159Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu163_Ter167= Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Glu49del Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Glu49Gly Multiple submitters hereditary neoplastic syndrome
p.Glu57Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu57Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu64Lys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Glu73Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu92Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly37Asp Multiple submitters hereditary neoplastic syndrome
p.Gly37Cys Multiple submitters hereditary neoplastic syndrome
p.His93Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.His93Gln Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.His93Leu Multiple submitters hereditary pheochromocytoma-paraganglioma
p.His96Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.His96Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile109Met Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ile109Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile118Val Multiple submitters hereditary neoplastic syndrome
p.Ile131Leu Multiple submitters pheochromocytoma/paraganglioma syndrome 2 ⚠
p.Ile63Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ile63Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile84Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu104Phe Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Leu12Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Leu139Met Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Leu14Phe Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Leu22Phe Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Leu71Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Leu80Phe Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Leu80Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Leu85Ile Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Lys100Glu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Lys149Glu Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Lys45Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys66Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys91Glu Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Met137Lys Multiple submitters pheochromocytoma/paraganglioma syndrome 2 ⚠
p.Met137Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Met137Val Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Met13Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Met13Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Met13Val Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Met1Val Multiple submitters hereditary neoplastic syndrome
p.Met47Val Multiple submitters pheochromocytoma/paraganglioma syndrome 2 ⚠
p.Met79Val Multiple submitters pheochromocytoma/paraganglioma syndrome 2 ⚠
p.Met97Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe132Leu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Phe143del Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Phe143Ile Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Phe143Ser Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Phe31Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe34Leu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Phe34Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe7Leu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Phe89Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro112Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Pro127Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro129Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro129Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro156Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro156Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro40Leu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Pro51Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro51Leu Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Pro51Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro53Leu Multiple submitters hereditary neoplastic syndrome
p.Pro53Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro53Thr Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Pro54Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser10Leu Multiple submitters pheochromocytoma/paraganglioma syndrome 2 ⚠
p.Ser113Asn Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ser113Gly Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ser11Trp Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ser17Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser17Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ser27Gly Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ser30Pro Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ser39Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser43Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser4Phe Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Ser62Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser74Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser8Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser8Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr41Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr59Ala Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Thr59Ile Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Thr5Ile Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Trp116Cys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Trp55Arg Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Tyr105Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr105Cys Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Tyr120Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr160His Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr160Ter Multiple submitters hereditary pheochromocytoma-paraganglioma
p.Tyr35His Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Tyr35Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr72Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr72Phe Multiple submitters hereditary neoplastic syndrome
p.Val28Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Val28Met Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Val3Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Val6Ala Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
p.Val6Gly Multiple submitters hereditary pheochromocytoma-paraganglioma ⚠
c.260+6G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.260+6G>C Single submitter hereditary pheochromocytoma-paraganglioma
c.261-12del Single submitter hereditary pheochromocytoma-paraganglioma
c.261-3del Single submitter
c.36+1G>T Single submitter hereditary neoplastic syndrome
c.36+2T>A Single submitter hereditary pheochromocytoma-paraganglioma
c.36+2T>C Single submitter
c.36+2T>G Single submitter
c.36+5G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.37-113T>G Single submitter hereditary pheochromocytoma-paraganglioma
c.37-746A>G Single submitter hereditary neoplastic syndrome
c.370+11T>C Single submitter hereditary pheochromocytoma-paraganglioma
c.370+1G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.370+4C>A Single submitter hereditary neoplastic syndrome
c.370+6G>T Single submitter hereditary pheochromocytoma-paraganglioma
c.371-3C>G Single submitter hereditary neoplastic syndrome
c.371-3C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.371-4G>C Single submitter pheochromocytoma/paraganglioma syndrome 2
c.-1A>G Single submitter hereditary neoplastic syndrome
c.-29G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.-2A>G Single submitter hereditary neoplastic syndrome
c.-4G>A Single submitter hereditary neoplastic syndrome
c.-5G>A Single submitter hereditary neoplastic syndrome
c.-5G>T Single submitter hereditary neoplastic syndrome
c.-9G>C Single submitter hereditary pheochromocytoma-paraganglioma
c.*233C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.*284C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.*389C>T Single submitter hereditary pheochromocytoma-paraganglioma
c.*3T>A Single submitter hereditary pheochromocytoma-paraganglioma
c.*446C>G Single submitter hereditary pheochromocytoma-paraganglioma
c.*479A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.*4G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.*58G>A Single submitter hereditary pheochromocytoma-paraganglioma
c.*661A>G Single submitter hereditary pheochromocytoma-paraganglioma
c.*669A>G Single submitter hereditary pheochromocytoma-paraganglioma
p.146NK[3] Single submitter hereditary pheochromocytoma-paraganglioma
p.Ala125Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala128Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala128Thr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ala138Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ala138Thr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ala15Ser Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ala2del Single submitter hereditary pheochromocytoma-paraganglioma
p.Ala2Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala2Thr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ala68Thr Single submitter hereditary pheochromocytoma-paraganglioma
p.Ala68Val Single submitter hereditary neoplastic syndrome ⚠
p.Arg107Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg152Thr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg18Lys Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg32Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg33Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg58Lys Single submitter pheochromocytoma/paraganglioma syndrome 2 ⚠
p.Arg58Ser Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg69Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg75Gly Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg75Lys Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Arg75Thr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asn103Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asn110Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asn114Asp Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asn146fs Single submitter hereditary neoplastic syndrome
p.Asn146Lys Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asn82= Single submitter hereditary pheochromocytoma-paraganglioma
p.Asp106Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp106Glu Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp106Gly Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp106Val Single submitter hereditary neoplastic syndrome ⚠
p.Asp115Ala Single submitter hereditary neoplastic syndrome ⚠
p.Asp115His Single submitter hereditary neoplastic syndrome ⚠
p.Asp115Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asp157Asn Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp157fs Single submitter hereditary neoplastic syndrome
p.Asp157His Single submitter hereditary neoplastic syndrome ⚠
p.Asp38Asn Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp38His Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Asp42Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp46Glu Single submitter hereditary pheochromocytoma-paraganglioma
p.Asp60Gly Single submitter hereditary neoplastic syndrome ⚠
p.Cys83Arg Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Cys83del Single submitter hereditary pheochromocytoma-paraganglioma
p.Gln101Arg Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Gln101Lys Single submitter hereditary pheochromocytoma-paraganglioma
p.Gln151His Single submitter hereditary neoplastic syndrome
p.Gln151Ter Single submitter hereditary pheochromocytoma-paraganglioma
p.Gln44del Single submitter hereditary pheochromocytoma-paraganglioma
p.Gln44Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Gln56Arg Single submitter hereditary neoplastic syndrome ⚠
p.Glu111_Asn114del Single submitter hereditary neoplastic syndrome
p.Glu111Gln Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Glu133Ala Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Glu133Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu135Asp Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Glu150Asp Single submitter hereditary pheochromocytoma-paraganglioma
p.Glu159Asp Single submitter ⚠
p.Glu163Ala Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Glu163Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu49Lys Single submitter hereditary neoplastic syndrome
p.Glu61Lys Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Glu73Ala Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Glu73Val Single submitter hereditary neoplastic syndrome ⚠
p.Glu81Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu92Asp Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Gly37Ser Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.His96Leu Single submitter hereditary neoplastic syndrome ⚠
p.Ile109Val Single submitter hereditary neoplastic syndrome
p.Ile131Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile48Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ile48Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ile50Phe Single submitter hereditary neoplastic syndrome
p.Ile50Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ile63Leu Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Ile63Met Single submitter hereditary neoplastic syndrome ⚠
p.Ile84Leu Single submitter hereditary neoplastic syndrome ⚠
p.Leu102Gln Single submitter hereditary neoplastic syndrome ⚠
p.Leu12Gln Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Leu12Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Leu139Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Leu140Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu153Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Leu153Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu158Pro Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Leu16Val Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Leu21Arg Single submitter hereditary pheochromocytoma-paraganglioma ⚠
p.Leu22Ser Single submitter hereditary neoplastic syndrome ⚠
p.Leu25Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu25Ser Single submitter hereditary neoplastic syndrome ⚠
p.Leu26Arg Single submitter hereditary neoplastic syndrome ⚠
p.Leu26Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu26Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu52Phe Single submitter hereditary neoplastic syndrome ⚠