Sugi Variant

Sugi Variant/SDHA

SDHA — 3037 ClinVar variants

All ClinVar germline SDHA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1455 flagged for review →

165 Pathogenic · 50 Pathogenic/Likely pathogenic · 97 Likely pathogenic · 204 Conflicting · 58 Benign · 231 Benign/Likely benign · 646 Likely benign · 1586 Uncertain significance

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

⚑ Evidence disagreements 1455

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 114

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

Predictors lean, ClinVar uncertain 1087

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 1087

Predictors split 253

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 253

All SDHA variants

Pathogenic 165

  • p.Ala102fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ala338fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala43fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala45fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala582fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg325fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg329_Tyr330insTer Multiple submitters hereditary neoplastic syndrome
  • p.Arg329Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Arg352Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Arg355Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Asn155fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asn416fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Asp135fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Asp241fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Cys231fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Cys536fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Cys89Ter Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gln104Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gln176Ter Multiple submitters gastrointestinal stromal tumor
  • p.Gln185Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gln27Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln288Ter Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gln294Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln375Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln420fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln420Ter Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gln428fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln54Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Glu324Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Glu398fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Glu472Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gly129fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gly157fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gly29fs Multiple submitters hereditary neoplastic syndrome
  • p.Gly315Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gly555Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.His34fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu10fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu349fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Leu573fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Lys498fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Lys586fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Met1fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Met1Ile Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Met1Lys Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Met556fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Pro332fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser199fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ser384Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ser8Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Trp119Ter Multiple submitters gastrointestinal stromal tumor
  • p.Tyr156fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr205Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr211Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr259fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr330Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr580Ter Multiple submitters hereditary neoplastic syndrome
  • p.Val150fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Val234fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Val493fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Val4fs Multiple submitters hereditary neoplastic syndrome
  • c.1663+1G>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.457-2A>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.895+1dup Single submitter hereditary neoplastic syndrome
  • c.897_1260+1del Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Ala109fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Ala19fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Ala449fs Single submitter hereditary neoplastic syndrome
  • p.Ala454fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Ala466fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Ala72fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Arg162Ter Single submitter hereditary neoplastic syndrome
  • p.Arg340fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Arg345fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Arg379fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Arg507fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Arg585fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Arg589fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Asn113fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Asn409delinsIleTer Single submitter hereditary neoplastic syndrome
  • p.Asn40fs Single submitter
  • p.Asn570fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Asn86delinsIleTer Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Asp117fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Asp289_Leu290insTer Single submitter hereditary neoplastic syndrome
  • p.Asp553fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Cys189Ter Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Cys238fs Single submitter hereditary neoplastic syndrome
  • p.Cys467fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Cys467Ter Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Cys536Ter Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Gln136Ter Single submitter hereditary neoplastic syndrome
  • p.Gln145Ter Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Gln170Ter Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Gln520Ter Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Gln611Ter Single submitter hereditary neoplastic syndrome
  • p.Glu115Ter Single submitter hereditary neoplastic syndrome
  • p.Glu291fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Glu314fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Glu328Ter Single submitter hereditary neoplastic syndrome
  • p.Glu353Ter Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Glu491fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Glu595fs Single submitter hereditary neoplastic syndrome
  • p.Glu595Ter Single submitter hereditary neoplastic syndrome
  • p.Glu61Ter Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Glu82fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Glu82Ter Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Gly276fs Single submitter hereditary neoplastic syndrome
  • p.Gly453fs Single submitter hereditary neoplastic syndrome
  • p.Gly478fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Gly529fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Gly555Glu Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Gly581Ter Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Gly79fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Ile300_Tyr301insTer Single submitter hereditary neoplastic syndrome
  • p.Ile319fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Ile431fs Single submitter hereditary neoplastic syndrome
  • p.Ile471fs Single submitter hereditary neoplastic syndrome
  • p.Ile579fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Leu133fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Leu371fs Single submitter hereditary neoplastic syndrome
  • p.Leu380fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Leu452fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Leu458Ter Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Leu499Ter Single submitter hereditary neoplastic syndrome
  • p.Leu566fs Single submitter hereditary neoplastic syndrome
  • p.Leu7fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Lys20Ter Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Lys480fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Lys480Ter Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Lys517fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Lys538fs Single submitter hereditary neoplastic syndrome
  • p.Lys608Ter Single submitter hereditary neoplastic syndrome
  • p.Lys616Ter Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Met142fs Single submitter hereditary neoplastic syndrome
  • p.Phe173fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Phe33fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Phe463fs Single submitter hereditary neoplastic syndrome
  • p.Phe552fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Phe62fs Single submitter hereditary neoplastic syndrome
  • p.Pro359fs Single submitter
  • p.Ser208fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Ser2Ter Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Ser346fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Ser456Ter Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Ser492fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Ser509fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Ser530fs Single submitter hereditary neoplastic syndrome
  • p.Thr213fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Thr24fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Trp22Ter Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Trp622Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr124Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr156Ter Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr215fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr259Ter Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Tyr330fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr436Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr543Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr597fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr604Ter Single submitter hereditary neoplastic syndrome
  • p.Val217fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Val406fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Val446fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Val563fs Single submitter hereditary neoplastic syndrome

Pathogenic/Likely pathogenic 50

  • c.1432_1432+1del Multiple submitters neurodegeneration with ataxia and late-onset optic atrophy
  • c.1663+1G>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1663+1G>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1795-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.456+1G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.457-1G>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.457-2_457del Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.64-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.762_770+17del Multiple submitters Inherited phaeochromocytoma and paraganglioma excluding NF1
  • p.Ala186fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala454Glu Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ala524Val Multiple submitters hereditary neoplastic syndrome
  • p.Arg162fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg210Ter Multiple submitters gastrointestinal stromal tumor
  • p.Arg31Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Arg352fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg512Ter Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg527fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg585Gln Multiple submitters hereditary neoplastic syndrome
  • p.Arg585Trp Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg589Trp Multiple submitters Inherited phaeochromocytoma and paraganglioma excluding NF1
  • p.Arg75Ter Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Asn108fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp223fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gln104fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln367Ter Multiple submitters dilated cardiomyopathy 1GG
  • p.Glu152Ter Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Glu230fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu490Ter Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Glu491Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gly260Arg Multiple submitters neurodegeneration with ataxia and late-onset optic atrophy
  • p.Gly316fs Multiple submitters hereditary neoplastic syndrome
  • p.His447fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ile539fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Leu18fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Lys550Ter Multiple submitters SDHA-related disorder
  • p.Met1Arg Multiple submitters dilated cardiomyopathy 1GG
  • p.Met1Leu Multiple submitters hereditary neoplastic syndrome
  • p.Met1Thr Multiple submitters dilated cardiomyopathy 1GG
  • p.Met1Val Multiple submitters SDHA-related disorder
  • p.Pro56_Val57insTer Multiple submitters dilated cardiomyopathy 1GG
  • p.Ser509Ter Multiple submitters SDHA-related disorder
  • p.Ser81_Glu82insTer Multiple submitters hereditary neoplastic syndrome
  • p.Thr100fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr126_Val127insTer Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Thr308Met Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Trp121Ter Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Val253fs Multiple submitters hereditary neoplastic syndrome
  • p.Val47fs Multiple submitters SDHA-related disorder
  • p.Val58fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1

Likely pathogenic 97

  • c.1064+1G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1064+1G>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1064+2T>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1065-2A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1260+1G>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1260+2T>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1261-1G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1261-2A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1432+1_1432+2delinsAG Multiple submitters dilated cardiomyopathy 1GG
  • c.1432+1G>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1432+1G>C Multiple submitters SDHA-related disorder
  • c.1432+1G>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.151-1G>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.151-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.1552-1G>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1664-1G>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1664-2A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1794+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1909-1G>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1909-2A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.312+1G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.456+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.622-1G>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.622-2A>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.63+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.63+1G>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.63+2del Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.770+2T>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.771-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.895+1del Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.895+2T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg554Trp Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Arg589Gly Multiple submitters hereditary neoplastic syndrome
  • p.Gln611fs Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly439Glu Multiple submitters hereditary neoplastic syndrome
  • p.Pro95Arg Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1001_1064+5dup Single submitter hereditary neoplastic syndrome
  • c.1064+2T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1064+2T>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1065-1G>C Single submitter hereditary neoplastic syndrome
  • c.(1260_1261 Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1432+2T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1432+2T>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1433-1G>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1433-2A>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.150+1G>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1551+1G>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1552-1G>A Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1552-1G>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1552-2A>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1664-16_1666del Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1664-1G>A Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1794+1dup Single submitter hereditary neoplastic syndrome
  • c.1794+1G>T Single submitter hereditary neoplastic syndrome
  • c.1795-1G>A Single submitter hereditary neoplastic syndrome
  • c.1908+1G>A Single submitter hereditary neoplastic syndrome
  • c.1908+5G>A Single submitter hereditary neoplastic syndrome
  • c.313-1G>A Single submitter hereditary neoplastic syndrome
  • c.313-2A>C Single submitter hereditary neoplastic syndrome
  • c.457-3delinsTAAGCTAGAAATTTCATA Single submitter hereditary neoplastic syndrome
  • c.621+1G>A Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.621+1G>T Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.64-2A>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.64-2del Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.769_770+77del Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.770+1G>A Single submitter hereditary neoplastic syndrome
  • c.770+1G>C Single submitter hereditary neoplastic syndrome
  • c.770+2T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.895+1G>A Single submitter hereditary neoplastic syndrome
  • c.895+1G>T Single submitter
  • c.896-1G>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.896-2A>C Single submitter hereditary neoplastic syndrome
  • c.896-2A>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.896-2del Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Ala83Val Single submitter ⚠
  • p.Arg451Leu Single submitter hereditary neoplastic syndrome
  • p.Gln322Ter Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Gln577Ter Single submitter
  • p.Gln613fs Single submitter hereditary neoplastic syndrome
  • p.Glu440fs Single submitter
  • p.Gly411fs Single submitter dilated cardiomyopathy 1GG
  • p.Gly439Arg Single submitter hereditary neoplastic syndrome
  • p.Gly439Trp Single submitter hereditary neoplastic syndrome
  • p.Gly544fs Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Gly590fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.His187fs Single submitter
  • p.His592fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Ile244fs Single submitter dilated cardiomyopathy 1GG
  • p.Leu627fs Single submitter hereditary neoplastic syndrome
  • p.Lys397fs Single submitter dilated cardiomyopathy 1GG
  • p.Lys616fs Single submitter hereditary neoplastic syndrome
  • p.Phe85fs Single submitter
  • p.Thr386_Ala387insTer Single submitter dilated cardiomyopathy 1GG
  • p.Thr415Ile Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Ala334fs No assertion criteria gastrointestinal stromal tumor
  • p.Gly71fs No assertion criteria pheochromocytoma/paraganglioma syndrome 5
  • p.His99Tyr No assertion criteria Carney triad

Conflicting classifications of pathogenicity 204

  • c.1064+3G>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1064+5G>A Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1064+7G>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1065-11T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1065-13T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1065-4C>A Single submitter hereditary neoplastic syndrome
  • c.1065-5A>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1260+1G>A Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1260+3G>A Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1260+9G>T Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1261-3C>T Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1261-5delinsGAAA Single submitter hereditary neoplastic syndrome
  • c.150_150+1delinsTA Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.150+1G>A Single submitter hereditary neoplastic syndrome
  • c.150+1G>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1551+1G>A Single submitter hereditary neoplastic syndrome
  • c.1551+3A>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1551+4A>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1552-2591A>G Single submitter hereditary neoplastic syndrome
  • c.1663+3G>A Single submitter hereditary neoplastic syndrome
  • c.1663+3G>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1663+5G>C Single submitter dilated cardiomyopathy 1GG
  • c.1663+7A>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1664-4C>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1664-5C>T Single submitter hereditary neoplastic syndrome
  • c.1794+3G>A Single submitter hereditary neoplastic syndrome
  • c.1794+3G>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1795-3C>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1795-5C>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1908+5G>T Single submitter SDHA-related disorder
  • c.312+20C>T Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.313-13T>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.313-19G>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.456+10G>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.456+3_456+4delinsCT Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.456+6G>T Single submitter hereditary neoplastic syndrome
  • c.456+8G>A Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.457-18_457-3dup Single submitter hereditary neoplastic syndrome
  • c.622-5T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.64-3C>T Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.895+13G>A Single submitter hereditary pheochromocytoma-paraganglioma
  • c.896-11G>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.-1C>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.-2A>T Single submitter hereditary neoplastic syndrome
  • c.-7A>C Single submitter hereditary neoplastic syndrome
  • c.*133G>C Single submitter hereditary pheochromocytoma-paraganglioma
  • c.*249T>C Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Ala103Val Single submitter hereditary neoplastic syndrome
  • p.Ala148Thr Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala17Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala17Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala186= Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Ala19Gly Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala19Thr Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala21Thr Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala236Thr Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala331Thr Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala334= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Ala43Thr Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Ala449Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala45Thr Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Ala466Thr Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Ala584Val Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Ala655= Single submitter hereditary neoplastic syndrome
  • p.Ala660Gly Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg15His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg171Cys Single submitter gastrointestinal stromal tumor ⚠
  • p.Arg171His Single submitter gastrointestinal stromal tumor ⚠
  • p.Arg188Gln Single submitter Inherited phaeochromocytoma and paraganglioma excluding NF1 ⚠
  • p.Arg188Trp Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg312His Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg31Gln Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg352Gln Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Arg423Lys Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg42Lys Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg451Cys Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg451His Single submitter dilated cardiomyopathy 1GG ⚠
  • p.Arg451Ser Single submitter SDHA-related disorder ⚠
  • p.Arg465Gln Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Arg527His Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Arg554Gln Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg589Gln Single submitter dilated cardiomyopathy 1GG ⚠
  • p.Arg594Lys Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg5Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg5Gly Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg5Trp Single submitter dilated cardiomyopathy 1GG ⚠
  • p.Arg600Gln Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg600Trp Single submitter neurodegeneration with ataxia and late-onset optic atrophy ⚠
  • p.Arg662Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg9Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn118Ser Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn228Ser Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn40Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn40Ser Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn450= Single submitter hereditary neoplastic syndrome
  • p.Asn487= Single submitter hereditary neoplastic syndrome
  • p.Asn86Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp241= Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Asp38Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp429Asn Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp49Gly Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp503Asn Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gln104= Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Gln136= Single submitter hereditary neoplastic syndrome
  • p.Gln170Lys Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Glu152= Single submitter hereditary neoplastic syndrome
  • p.Glu152Lys Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Glu314Lys Single submitter dilated cardiomyopathy 1GG ⚠
  • p.Glu472Lys Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Glu640Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly183= Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Gly257Ala Single submitter gastrointestinal stromal tumor ⚠
  • p.Gly260= Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Gly274= Single submitter neurodegeneration with ataxia and late-onset optic atrophy
  • p.Gly323= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Gly412Cys Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gly633Ser Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gly68Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly6Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly6Arg Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gly6Asp Single submitter Leigh syndrome ⚠
  • p.Gly6Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly84Glu Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.His34= Single submitter hereditary neoplastic syndrome
  • p.His407Arg Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.His424Gln Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.His447Arg Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.His592Arg Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.His625Tyr Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ile239Leu Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ile247Val Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ile319Leu Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Ile431Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile471= Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Ile506Val Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Leu18Val Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Leu376= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Leu435= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Leu435Arg Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Leu435Gln Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Leu639fs Single submitter dilated cardiomyopathy 1GG
  • p.Leu649fs Single submitter Inherited phaeochromocytoma and paraganglioma excluding NF1
  • p.Leu74fs Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Leu7Val Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Lys20Asn Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Lys20Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys46Glu Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Lys517= Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Lys517Glu Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Lys541= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Lys541Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys547Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys547Gln Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Lys636Asn Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Pro414= Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Pro486Ser Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Pro486Thr Single submitter dilated cardiomyopathy 1GG ⚠
  • p.Pro658Leu Single submitter neurodegeneration with ataxia and late-onset optic atrophy ⚠
  • p.Pro659= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Ser12Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser2Ala Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ser2Leu Single submitter Leigh syndrome ⚠
  • p.Ser339Pro Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Ser445Leu Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Ser456= Single submitter neurodegeneration with ataxia and late-onset optic atrophy
  • p.Ser456Leu Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ser509= Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Ser509Trp Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Ser50Ala Single submitter dilated cardiomyopathy 1GG ⚠
  • p.Ser514Asn Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ser514Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser518Thr Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ser52Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser8Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr24Ala Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Thr24Arg Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Thr273Ile Single submitter neurodegeneration with ataxia and late-onset optic atrophy ⚠
  • p.Thr277Met Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Thr28Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr308= Single submitter dilated cardiomyopathy 1GG
  • p.Thr30Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr30Ile Single submitter dilated cardiomyopathy 1GG ⚠
  • p.Thr36Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr378Ala Single submitter pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Thr378Met Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Thr396= Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Thr508Ile Single submitter hereditary pheochromocytoma-paraganglioma ⚠
  • p.Tyr259= Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr263fs Single submitter mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr629fs Single submitter hereditary neoplastic syndrome
  • p.Val151Ile Single submitter SDHA-related disorder ⚠
  • p.Val333Ile Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Val333Leu Single submitter dilated cardiomyopathy 1GG ⚠
  • p.Val364= Single submitter hereditary pheochromocytoma-paraganglioma
  • p.Val37Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Val393Leu Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Val393Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Val425Met Single submitter neurodegeneration with ataxia and late-onset optic atrophy ⚠
  • p.Val481Ile Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Val4Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Val4Ile Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Val632= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Val632Ile Single submitter mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Val632Phe Single submitter hereditary neoplastic syndrome ⚠

Benign 58

  • c.1432+39C>T Multiple submitters
  • c.1664-34C>T Multiple submitters
  • c.1795-66C>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1908+85G>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1908+90A>G Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.456+20G>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.456+32G>A Multiple submitters
  • c.456+91G>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.622-13del Multiple submitters hereditary neoplastic syndrome
  • c.771-11A>G Multiple submitters neurodegeneration with ataxia and late-onset optic atrophy
  • c.895+28T>C Multiple submitters
  • c.896-20A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.896-32G>A Multiple submitters
  • p.Ala103= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala584= Multiple submitters hereditary neoplastic syndrome
  • p.Arg207= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Asn228= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Phe390= Multiple submitters neurodegeneration with ataxia and late-onset optic atrophy
  • p.Ser346= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Val644= Multiple submitters hereditary neoplastic syndrome
  • p.Val657Ile Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1260+23dup Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1433-3del Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.150+17del Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.150+17dup Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1551+438G>A Single submitter
  • c.1664-11del Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1664-11dup Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.457-12del Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.896-5del Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.-28_-20dup Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.*10A>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.*10A>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.*4G>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.*6C>A Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.*9G>A Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.*9G>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Ala468= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Arg594= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Asn108= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Asn450_Arg451= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Asn559_Thr560= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Gln611= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Glu227= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Glu309= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Gly39= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.His296_Pro297= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Leu285= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Leu318= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Leu496= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Lys418= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Pro643_Val644= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Ser52= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Thr203= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Thr267= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Thr508= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Tyr664= Single submitter pheochromocytoma/paraganglioma syndrome 5
  • p.Val644_Ile645= Single submitter pheochromocytoma/paraganglioma syndrome 5

Benign/Likely benign 231

  • c.1260+13G>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1432+20G>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1433-8del Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1433-8dup Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1551+16C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1664-8G>A Multiple submitters neurodegeneration with ataxia and late-onset optic atrophy
  • c.1908+15C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1909-12_1909-11del Multiple submitters hereditary neoplastic syndrome
  • c.456+10G>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.-4A>G Multiple submitters hereditary neoplastic syndrome
  • p.Ala102= Multiple submitters hereditary neoplastic syndrome
  • p.Ala13= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala17= Multiple submitters hereditary neoplastic syndrome
  • p.Ala172= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ala19= Multiple submitters hereditary neoplastic syndrome
  • p.Ala249= Multiple submitters hereditary neoplastic syndrome
  • p.Ala278= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ala331= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala377= Multiple submitters hereditary neoplastic syndrome
  • p.Ala387= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ala391= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala437= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala442= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala444= Multiple submitters hereditary neoplastic syndrome
  • p.Ala466= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ala502= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala524= Multiple submitters hereditary neoplastic syndrome
  • p.Ala72= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala76= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala88= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg120= Multiple submitters hereditary neoplastic syndrome
  • p.Arg14= Multiple submitters hereditary neoplastic syndrome
  • p.Arg162= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg246= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg261= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg340= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg352= Multiple submitters hereditary neoplastic syndrome
  • p.Arg423= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg451= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg465= Multiple submitters hereditary neoplastic syndrome
  • p.Arg476= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Arg5= Multiple submitters hereditary neoplastic syndrome
  • p.Arg500= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg554= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg585= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg623= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg642= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Arg662= Multiple submitters hereditary neoplastic syndrome
  • p.Arg9= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asn118= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asn251= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asn40= Multiple submitters hereditary neoplastic syndrome
  • p.Asn409= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asn455= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asn650= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asn86= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asp117= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Asp165= Multiple submitters hereditary neoplastic syndrome
  • p.Asp194= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asp275= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asp38Val Multiple submitters hereditary neoplastic syndrome
  • p.Asp394= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Asp459= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asp545= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asp631= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Cys191= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Cys266= Multiple submitters hereditary neoplastic syndrome
  • p.Gln294= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gln367= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gln430= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gln516= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gln533= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gln54= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gln569= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gln613= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gln614= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Glu115= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Glu116= Multiple submitters hereditary neoplastic syndrome
  • p.Glu164= Multiple submitters hereditary neoplastic syndrome
  • p.Glu240= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Glu291= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Glu314= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Glu328= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Glu385= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Glu440= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Glu473= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Glu564= Multiple submitters hereditary neoplastic syndrome
  • p.Glu619= Multiple submitters hereditary neoplastic syndrome
  • p.Glu620= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Glu640= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Glu651= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly112= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly129= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gly157= Multiple submitters hereditary neoplastic syndrome
  • p.Gly175= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly184= Multiple submitters hereditary neoplastic syndrome
  • p.Gly184Arg Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Gly197= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly242= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly276= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly284= Multiple submitters hereditary neoplastic syndrome
  • p.Gly299= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly313= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly411= Multiple submitters hereditary neoplastic syndrome
  • p.Gly412= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly419= Multiple submitters hereditary neoplastic syndrome
  • p.Gly427= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gly464= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly489= Multiple submitters hereditary neoplastic syndrome
  • p.Gly535= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly537= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gly68= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly73= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gly84= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.His198= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.His202= Multiple submitters hereditary neoplastic syndrome
  • p.His270= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.His363= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.His370= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.His424= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.His548= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.His592= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.His99= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ile235= Multiple submitters hereditary neoplastic syndrome
  • p.Ile389= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ile400= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ile431= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ile539= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ile579= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu11= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu16= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Leu178= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Leu200= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Leu204= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Leu209= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Leu225= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu237= Multiple submitters hereditary neoplastic syndrome
  • p.Leu290= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu306= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Leu349= Multiple submitters hereditary neoplastic syndrome
  • p.Leu368= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu371= Multiple submitters hereditary neoplastic syndrome
  • p.Leu380= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu422= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu452= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Leu457= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu458= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu511= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu532= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu571= Multiple submitters hereditary neoplastic syndrome
  • p.Lys179= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Lys182= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Lys335= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Lys361= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Lys41= Multiple submitters hereditary neoplastic syndrome
  • p.Lys547= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Lys550= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Lys92= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Phe160= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Phe295= Multiple submitters hereditary neoplastic syndrome
  • p.Phe526= Multiple submitters hereditary neoplastic syndrome
  • p.Phe552= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Pro159= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Pro286= Multiple submitters hereditary neoplastic syndrome
  • p.Pro297= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Pro372= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Pro373= Multiple submitters hereditary neoplastic syndrome
  • p.Pro381= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Pro399= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Pro433= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Pro56= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Pro658= Multiple submitters neurodegeneration with ataxia and late-onset optic atrophy
  • p.Pro95= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ser130= Multiple submitters hereditary neoplastic syndrome
  • p.Ser199= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ser2= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ser243= Multiple submitters hereditary neoplastic syndrome
  • p.Ser265= Multiple submitters hereditary neoplastic syndrome
  • p.Ser268= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ser321= Multiple submitters hereditary neoplastic syndrome
  • p.Ser339= Multiple submitters hereditary neoplastic syndrome
  • p.Ser44= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ser445= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ser470= Multiple submitters hereditary neoplastic syndrome
  • p.Ser492= Multiple submitters hereditary neoplastic syndrome
  • p.Ser530= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ser540= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ser607= Multiple submitters hereditary neoplastic syndrome
  • p.Ser628= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ser663= Multiple submitters hereditary neoplastic syndrome
  • p.Ser8= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Thr100= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Thr196= Multiple submitters hereditary neoplastic syndrome
  • p.Thr252= Multiple submitters hereditary neoplastic syndrome
  • p.Thr262= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Thr271= Multiple submitters hereditary neoplastic syndrome
  • p.Thr273= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Thr277= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Thr28= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Thr281= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Thr36= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Thr405= Multiple submitters hereditary neoplastic syndrome
  • p.Thr551= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Thr560= Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Thr565= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Thr578= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Thr656= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Thr87= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Tyr124= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr141= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr156= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr263= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Tyr330= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Tyr436= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Tyr543= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Tyr55His Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Tyr580= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr597= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr604= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr629Phe Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr641= Multiple submitters hereditary neoplastic syndrome
  • p.Val101= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Val151= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Val234= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Val25= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Val343= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Val493= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Val525= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Val557= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Val637= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Val657= Multiple submitters hereditary neoplastic syndrome

Likely benign 646

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

  • c.1064+10A>G Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1064+4C>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1064+7G>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1064+9G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1065-15G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1065-16T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1065-17_1065-15dup Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1065-17G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1065-17G>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1065-18G>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1065-19T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1065-6T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1065-7T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1260+10C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1260+8T>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1261-16A>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1261-4A>G Multiple submitters hereditary neoplastic syndrome
  • c.1261-4A>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1432+10T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1432+7G>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1432+9_1432+11del Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1432+9T>G Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1433-10T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1433-11T>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1433-18A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1433-7G>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.150+12C>T Multiple submitters Leigh syndrome
  • c.150+7T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.150+9A>G Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.151-14T>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.151-15A>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.151-17G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.151-20G>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.151-4C>T Multiple submitters hereditary neoplastic syndrome
  • c.151-9C>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1551+17G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1551+7G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1551+7G>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1552-12T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1552-13T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1552-14A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1552-15T>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1552-17A>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1552-4A>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1552-9G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1664-13T>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1664-19G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1664-4C>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1664-4C>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1664-5C>G Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1794+17C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1794+6C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1794+8T>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1908+10G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1908+8T>G Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1908+9G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1909-15A>G Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1909-16G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1909-18C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1909-19A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1909-5T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1909-9C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.312+18C>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.312+19A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.312+7G>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.312+7G>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.313-10G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.313-17G>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.313-3C>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.313-4C>G Multiple submitters hereditary neoplastic syndrome
  • c.313-4C>T Multiple submitters hereditary neoplastic syndrome
  • c.313-6T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.313-7T>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.313-8G>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.456+9C>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.457-11A>G Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.457-16T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.457-17G>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.457-4A>G Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.621+10C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.621+15G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.621+16T>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.621+8C>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.621+9G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.621+9G>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.622-13T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.622-4T>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.622-4T>C Multiple submitters hereditary neoplastic syndrome
  • c.622-7_622-4del Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.622-7C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.622-8del Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.622-8T>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.63+10T>G Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.63+19C>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.63+8C>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.63+9G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.64-10G>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.64-12C>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.64-15C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.64-19G>A Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.64-4C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.64-8G>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.770+7A>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.770+9C>G Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.771-4C>T Multiple submitters hereditary neoplastic syndrome
  • c.896-4G>A Multiple submitters hereditary neoplastic syndrome
  • c.896-5dup Multiple submitters hereditary neoplastic syndrome
  • p.Ala138= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala148= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala149= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ala236= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala269= Multiple submitters hereditary neoplastic syndrome
  • p.Ala338= Multiple submitters hereditary neoplastic syndrome
  • p.Ala53= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ala575= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala591= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Arg188= Multiple submitters hereditary neoplastic syndrome
  • p.Arg210= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg325= Multiple submitters hereditary neoplastic syndrome
  • p.Arg42= Multiple submitters hereditary neoplastic syndrome
  • p.Arg527= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Arg589= Multiple submitters hereditary neoplastic syndrome
  • p.Arg97= Multiple submitters hereditary neoplastic syndrome
  • p.Asn320= Multiple submitters hereditary neoplastic syndrome
  • p.Asn426= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asn559= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Asp135= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Asp336= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Asp38= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Asp503= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asp602= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Asp63= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Asp646= Multiple submitters hereditary neoplastic syndrome
  • p.Asp653= Multiple submitters hereditary neoplastic syndrome
  • p.Cys190= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Cys238= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Cys287= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Cys311= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Cys357= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Cys443= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gln27= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gln520= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Glu353= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Glu374= Multiple submitters hereditary neoplastic syndrome
  • p.Glu398= Multiple submitters hereditary neoplastic syndrome
  • p.Glu587= Multiple submitters hereditary neoplastic syndrome
  • p.Gly106= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gly166= Multiple submitters hereditary neoplastic syndrome
  • p.Gly258= Multiple submitters hereditary neoplastic syndrome
  • p.Gly3= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly32= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly358= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Gly448= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gly529= Multiple submitters hereditary neoplastic syndrome
  • p.Gly71= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gly79= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.His140= Multiple submitters hereditary neoplastic syndrome
  • p.His296= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.His407= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.His447= Multiple submitters hereditary neoplastic syndrome
  • p.His625= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ile280= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ile307= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ile351= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ile484= Multiple submitters hereditary neoplastic syndrome
  • p.Ile645= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu18= Multiple submitters hereditary neoplastic syndrome
  • p.Leu201= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu337= Multiple submitters hereditary neoplastic syndrome
  • p.Leu366= Multiple submitters hereditary neoplastic syndrome
  • p.Leu403= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu542= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu549= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Leu562= Multiple submitters hereditary neoplastic syndrome
  • p.Leu573= Multiple submitters hereditary neoplastic syndrome
  • p.Leu576= Multiple submitters hereditary neoplastic syndrome
  • p.Leu627= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Leu80= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Lys250= Multiple submitters hereditary neoplastic syndrome
  • p.Lys538= Multiple submitters hereditary neoplastic syndrome
  • p.Lys615= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Phe180= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Phe326= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Pro147= Multiple submitters hereditary neoplastic syndrome
  • p.Pro332= Multiple submitters hereditary neoplastic syndrome
  • p.Pro401= Multiple submitters hereditary neoplastic syndrome
  • p.Pro404= Multiple submitters hereditary neoplastic syndrome
  • p.Pro482= Multiple submitters hereditary neoplastic syndrome
  • p.Pro486= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Pro609= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ser161= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ser177= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ser384= Multiple submitters hereditary neoplastic syndrome
  • p.Ser50= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ser81= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Thr298= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Thr30= Multiple submitters hereditary neoplastic syndrome
  • p.Thr348= Multiple submitters hereditary neoplastic syndrome
  • p.Thr378= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Thr638= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Tyr205= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Tyr211= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr215= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Tyr606= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Val150= Multiple submitters hereditary neoplastic syndrome
  • p.Val333= Multiple submitters hereditary neoplastic syndrome
  • p.Val37= Multiple submitters hereditary neoplastic syndrome
  • p.Val421= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Val461= Multiple submitters hereditary neoplastic syndrome
  • p.Val481= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Val563= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Val599= Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Val66= Multiple submitters hereditary neoplastic syndrome
  • c.1064+5GT[3] Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1065-10del Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1065-10G>A Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1065-10G>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1065-12_1065-11del Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1065-12C>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1065-16T>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1065-20A>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1065-43G>A Single submitter
  • c.1260+12G>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1260+13G>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1260+14C>T Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1260+15T>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1260+15T>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1260+16C>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1260+17C>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1260+17C>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1260+18T>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1260+18T>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1260+19C>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1260+19C>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1260+20C>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1260+8T>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1261-10C>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1261-10C>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1261-10del Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1261-11C>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1261-11C>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1261-14C>T Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1261-16A>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1261-17A>T Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1261-19G>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1261-19G>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1261-21_1261-3dup Single submitter hereditary neoplastic syndrome
  • c.1261-5C>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1261-6_1261-5insGAA Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1261-7T>A Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1261-7T>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1261-8T>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1261-9T>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1261-9T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1432+11T>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1432+11T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1432+11T>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1432+12C>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1432+15C>T Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1432+16A>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1432+18G>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1432+19A>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1432+20G>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1432+20G>T Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1432+7G>A Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1432+7G>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1433-10T>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1433-11T>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1433-13T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1433-14T>A Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1433-14T>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1433-14T>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1433-15T>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1433-16C>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1433-16C>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1433-19T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1433-20C>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1433-20C>T Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1433-4T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1433-4T>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1433-5T>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.1433-7G>T Single submitter
  • c.1433-8T>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.1433-9T>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.150+12C>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.150+14_150+17dup Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.150+14T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.150+14T>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.150+15T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.150+18G>A Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.150+18G>C Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.150+18G>T Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.150+19T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.150+21_150+25del Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.150+7T>G Single submitter pheochromocytoma/paraganglioma syndrome 5
  • c.151-12T>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.151-16A>C Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.151-16A>T Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.151-18T>G Single submitter mitochondrial complex II deficiency, nuclear type 1
  • c.151-20G>C Single submitter pheochromocytoma/paraganglioma syndrome 5

Uncertain significance 1586

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

  • c.1064+3G>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1064+4C>G Multiple submitters hereditary neoplastic syndrome
  • c.1064+5G>C Multiple submitters hereditary neoplastic syndrome
  • c.1065-4C>G Multiple submitters hereditary neoplastic syndrome
  • c.1260+4A>G Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1432+3A>G Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1432+4A>G Multiple submitters hereditary neoplastic syndrome
  • c.150+4A>G Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.150+5G>T Multiple submitters hereditary neoplastic syndrome
  • c.151-3C>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1551+5G>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1551+5G>C Multiple submitters hereditary neoplastic syndrome
  • c.1552-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.1794+5G>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.1908+6T>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.1909-3A>G Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.312+4A>C Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.312+4A>G Multiple submitters hereditary neoplastic syndrome
  • c.312+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.312+5G>C Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.456+3G>T Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • c.457-3C>T Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.621+3A>G Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.63+3del Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.63+3G>C Multiple submitters hereditary neoplastic syndrome
  • c.64-7T>G Multiple submitters hereditary neoplastic syndrome
  • c.771-21_771-13del Multiple submitters hereditary neoplastic syndrome
  • c.771-5T>G Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.895+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.895+4G>A Multiple submitters hereditary neoplastic syndrome
  • c.896-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.-1C>G Multiple submitters hereditary neoplastic syndrome
  • c.-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.-3G>T Multiple submitters hereditary neoplastic syndrome
  • c.-5C>G Multiple submitters hereditary neoplastic syndrome
  • c.-5C>T Multiple submitters hereditary neoplastic syndrome
  • c.*102G>A Multiple submitters Leigh syndrome
  • c.*179G>A Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • c.*189C>T Multiple submitters hereditary pheochromocytoma-paraganglioma
  • p.Ala102Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala102Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala103Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala110Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala138Thr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala146Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala148Ser Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala149Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala172Glu Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala172Thr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala172Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala17Glu Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala17Thr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala186Ser Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Ala186Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala193Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala21= Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala21Glu Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala21Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala221Gly Multiple submitters hereditary neoplastic syndrome
  • p.Ala236Ser Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala236Val Multiple submitters pheochromocytoma/paraganglioma syndrome 5
  • p.Ala249Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala269Thr Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Ala278Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala278Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala303Ser Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala303Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala331Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala334Ser Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ala334Thr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala334Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala338Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala338Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala338Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala377Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala387Thr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala391Gly Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala391Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala391Thr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala437Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala437Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala43Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala442Ser Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala442Thr Multiple submitters childhood neoplasm ⚠
  • p.Ala442Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala444Asp Multiple submitters dilated cardiomyopathy 1GG ⚠
  • p.Ala449Gly Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Ala449Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala454Ser Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ala454Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala45Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala45Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala466Ser Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala488Ser Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala488Thr Multiple submitters dilated cardiomyopathy 1GG ⚠
  • p.Ala523Gly Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Ala523Ser Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala523Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala575Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala582Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala584Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala591Thr Multiple submitters dilated cardiomyopathy 1GG ⚠
  • p.Ala591Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala593Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala593Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala64Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala652Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala655fs Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Ala655Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala660Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala660Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala69Thr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala72Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Ala88Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg14Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg14Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg14Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg15Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg171Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg195Gln Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg195Gly Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg195Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg207Gln Multiple submitters hereditary neoplastic syndrome
  • p.Arg207Lys Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg207Ser Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg210Gln Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg232Cys Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg232His Multiple submitters neurodegeneration with ataxia and late-onset optic atrophy ⚠
  • p.Arg246Cys Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Arg246His Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg248Thr Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Arg261Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg261His Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg282Gly Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg282Thr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg312Cys Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Arg312del Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Arg312Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg312Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg325Met Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg325Trp Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg329Gln Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Arg329Gly Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg329Leu Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg329Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg345Gln Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg345Gly Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg345Trp Multiple submitters dilated cardiomyopathy 1GG ⚠
  • p.Arg352Leu Multiple submitters hereditary neoplastic syndrome
  • p.Arg379Cys Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg379His Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Arg451Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg465Trp Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg476Lys Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg476Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg500Lys Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg512Gln Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Arg512Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg527Cys Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg527Leu Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg554Leu Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Arg594Ser Multiple submitters SDHA-related disorder ⚠
  • p.Arg662His Multiple submitters ⚠
  • p.Arg75Gln Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Arg97Thr Multiple submitters SDHA-related disorder ⚠
  • p.Arg9Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg9Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn108Asp Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn108Ser Multiple submitters dilated cardiomyopathy 1GG
  • p.Asn113Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn113Ile Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn155Lys Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn155Ser Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn251Lys Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn251Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn251Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn320Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn409His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn409Ile Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn409Tyr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn416Asp Multiple submitters dilated cardiomyopathy 1GG ⚠
  • p.Asn416Ile Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn416Lys Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn426His Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn450Ser Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Asn455His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn487His Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn495Asp Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn570Lys Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asn570Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn650Ser Multiple submitters dilated cardiomyopathy 1GG ⚠
  • p.Asn86His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp117Asn Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp125Asn Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp125His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp131Asn Multiple submitters pheochromocytoma/paraganglioma syndrome 4 ⚠
  • p.Asp135Asn Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp135Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp137Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp137Tyr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp137Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp165Asn Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp165Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp165Val Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Asp194Asn Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp212Gly Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Asp212His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp223Ala Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp223His Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Asp275Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp289Glu Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp336Ala Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Asp336Tyr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp341Ala Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Asp341Asn Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp38His Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp459Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp459His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp497Glu Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Asp49His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp503Ala Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp553Asn Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp553Glu Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp596Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp596His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp596Tyr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp59Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp602Asn Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp605Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp605His Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp631Asn Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp63Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp63Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Asp646Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp653Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp653Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys190Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys191Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys191Ser Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Cys191Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys231Phe Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Cys238Gly Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Cys238Tyr Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Cys266Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys287Trp Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Cys305Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys305Tyr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Cys357Tyr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Cys438Phe Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Cys438Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys438Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys475Arg Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Cys475Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys475Tyr Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Cys536Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys654Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys654Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys89Tyr Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gln104Glu Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gln136Glu Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gln136Leu Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gln145Glu Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gln170Arg Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gln170His Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Gln185Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln294Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln294His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln322Pro Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gln367Glu Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Gln375His Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Gln420= Multiple submitters hereditary neoplastic syndrome
  • p.Gln420Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln420Pro Multiple submitters neurodegeneration with ataxia and late-onset optic atrophy ⚠
  • p.Gln430Arg Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gln516Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln516Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln533Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln54Arg Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gln569Arg Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gln569His Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Gln611Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu115Asp Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Glu116del Multiple submitters mitochondrial complex II deficiency, nuclear type 1
  • p.Glu116Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu154Gly Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Glu154Lys Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Glu230Gln Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Glu230Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu240Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu240Lys Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Glu291Ala Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Glu291Lys Multiple submitters pheochromocytoma/paraganglioma syndrome 5 ⚠
  • p.Glu291Val Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Glu309Gly Multiple submitters dilated cardiomyopathy 1GG ⚠
  • p.Glu314Ala Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Glu314Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu324Lys Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Glu328Lys Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Glu353Ala Multiple submitters mitochondrial complex II deficiency, nuclear type 1 ⚠
  • p.Glu353Lys Multiple submitters hereditary neoplastic syndrome ⚠