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*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Metabolism, Inborn Errors (D008661)
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Mitochondrial Diseases (D028361)
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Mitochondrial Complex II Deficiency (C565375)

       Child Nodes:



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)  LSDB  L: 00090;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)  LSDB  L: 00406;
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00017;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00043;
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)  LSDB  L: 00043;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)  LSDB  L: 00046;
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7307
Name:Mitochondrial Complex II Deficiency
Definition:
Alternative IDs:OMIM:252011
ParentIDs:MESH:D008661|MESH:D028361
TreeNumbers:C16.320.565/C565375 |C18.452.648/C565375 |C18.452.660/C565375
Synonyms:Succinate CoQ Reductase Deficiency
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C565375
MeSH: C565375
OMIM: 252011;
MSeqDR LSDB: 00016;  
Genes: SDHA; SDHAF1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0008316Abnormal mitochondria in muscle tissue
4 HP:0001251Ataxia
5 HP:0003487Babinski sign
6 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
7 HP:0008314Decreased activity of mitochondrial complex II
8 HP:0002376Developmental regression
9 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
10 HP:0001332Dystonia
NAMDC:  Dystonia
11 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
12 HP:0001371Flexion contracture
13 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
14 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
15 HP:0012240Increased intramyocellular lipid droplets
16 HP:0002151Increased serum lactate
17 HP:0002352Leukoencephalopathy
18 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
19 HP:0001336Myoclonus
NAMDC:  Myoclonus
20 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
21 HP:0000639Nystagmus
22 HP:0000602Ophthalmoplegia
23 HP:0000648Optic atrophy
24 HP:0003812Phenotypic variability
25 HP:0000580Pigmentary retinopathy
NAMDC:  Pigmentary retinopathy
26 HP:0006980Progressive leukoencephalopathy
27 HP:0000508Ptosis
NAMDC:  Ptosis
28 HP:0003200Ragged-red muscle fibers
29 HP:0001250Seizures
NAMDC:  Seizures
30 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
31 HP:0001257Spasticity
NAMDC:  Spasticity
32 HP:0004897Stress/infection-induced lactic acidosis
33 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004168.3(SDHA):c.-115T>C6389SDHALikely benign2303741RCV000338764; RCV000313041; RCV000400671; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005218356218356-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-84dupC6389SDHALikely benign35805262RCV000307350; RCV000399941; RCV000370159; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005218387218387-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-63G>A6389SDHAUncertain significance886060513RCV000329506; RCV000272151; RCV000364389; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005218408218408-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-7A>C6389SDHAConflicting interpretations of pathogenicity751633537RCV000649475; RCV000411889; RCV000649475; RCV000425129; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:CN1693745218464218464-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.-4A>G6389SDHABenign/Likely benign377134185RCV000572973; RCV000266213; RCV000323529; RCV000358590; RCV000251091; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745218467218467-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.-1C>T6389SDHAUncertain significance560932680RCV000279041; RCV000317717; RCV000380480; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005218470218470-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.1A>C (p.Met1Leu)6389SDHAPathogenic1061517RCV000009283; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA32085218471218471OMIM Allelic Variant:600857.0003C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1A>G (p.Met1Val)6389SDHAPathogenic/Likely pathogenic1061517RCV000567727; RCV000230468; RCV000230468; RCV000656497; RCV000579224; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:CN5172025218471218471-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.2T>C (p.Met1Thr)6389SDHALikely pathogenic750380279RCV000462474; RCV000462474; RCV000662887; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655218472218472-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.2T>G (p.Met1Arg)6389SDHAPathogenic/Likely pathogenic750380279RCV000649438; RCV000649438; RCV000478025; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN5172025218472218472-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.2T>A (p.Met1Lys)6389SDHALikely pathogenic-1RCV000706101; RCV000706101; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218472218472-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.5C>T (p.Ser2Leu)6389SDHAUncertain significance780064103RCV000569083; RCV000473246; RCV000473246; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218475218475-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.8G>C (p.Gly3Ala)6389SDHAUncertain significance-1RCV000703530; RCV000703530; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218478218478-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.12C>T (p.Val4=)6389SDHALikely benign749406988RCV000468506; RCV000468506; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218482218482-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.13C>T (p.Arg5Trp)6389SDHAUncertain significance770866830RCV000473159; RCV000473159; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218483218483-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.14G>A (p.Arg5Gln)6389SDHAUncertain significance-1RCV000691271; RCV000691271; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218484218484-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.17G>A (p.Gly6Asp)6389SDHABenign/Likely benign187964306RCV000573807; RCV000349064; RCV000210499; RCV000374489; RCV000210499; RCV000411625; RCV000282383; RCV000224380; RCV000216190; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; Hu5218487218487-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.18C>A (p.Gly6=)6389SDHALikely benign775847689RCV000556103; RCV000556103; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218488218488-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.18C>T (p.Gly6=)6389SDHAUncertain significance-1RCV000701813; RCV000701813; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218488218488-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.23C>G (p.Ser8Trp)6389SDHAUncertain significance878854631RCV000228753; RCV000228753; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218493218493-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.24G>C (p.Ser8=)6389SDHALikely benign1060505007RCV000573332; RCV000456144; RCV000456144; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218494218494-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.25C>G (p.Arg9Gly)6389SDHAUncertain significance776218604RCV000649459; RCV000649459; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218495218495-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.26G>A (p.Arg9Gln)6389SDHAUncertain significance-1RCV000691725; RCV000691725; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218496218496-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.40C>A (p.Arg14=)6389SDHALikely benign1192077362RCV000549482; RCV000549482; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218510218510-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.44G>C (p.Arg15Pro)6389SDHAUncertain significance1060503707RCV000470530; RCV000470530; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218514218514-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.45C>T (p.Arg15=)6389SDHALikely benign1060505002RCV000459039; RCV000459039; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218515218515-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.46_52dup (p.Leu18Profs)6389SDHAPathogenic-1RCV000696009; RCV000696009; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218516218522-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.55G>A (p.Ala19Thr)6389SDHAUncertain significance-1RCV000696776; RCV000696776; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218525218525-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.57C>G (p.Ala19=)6389SDHALikely benign749948037RCV000239374; RCV000239374; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218527218527-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.61G>A (p.Ala21Thr)6389SDHAUncertain significance1553996375RCV000556549; RCV000556549; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218531218531-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.63+8C>T6389SDHALikely benign766358430RCV000227123; RCV000227123; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655218541218541-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.64-10G>A6389SDHALikely benign1553997159RCV000649470; RCV000649470; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223587223587-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.64-3C>T6389SDHAUncertain significance772607568RCV000216659; RCV000533456; RCV000533456; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223594223594-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.86G>A (p.Gly29Glu)6389SDHAUncertain significance1436200566RCV000542539; RCV000542539; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223619223619-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.89C>T (p.Thr30Ile)6389SDHAUncertain significance-1RCV000699826; RCV000699826; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223622223622-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.91C>T (p.Arg31Ter)6389SDHAPathogenic142441643RCV000170328; RCV000131808; RCV000627791; RCV000148026; RCV000627791; RCV000722034; RCV000413945; NMedGen:C1858592,OMIM:604287, Orphanet:ORPHA139411; MedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:C0334583, Orphanet:ORPHA251612; MedGen:CN5172025223624223624OMIM Allelic Variant:600857.0008C1858592 604287 Carney triad;
NM_004168.3(SDHA):c.92G>A (p.Arg31Gln)6389SDHAUncertain significance752532780RCV000571153; RCV000225880; RCV000225880; RCV000410721; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655223625223625-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.106A>G (p.Thr36Ala)6389SDHAUncertain significance750500173RCV000218672; RCV000559108; RCV000559108; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223639223639-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.106A>T (p.Thr36Ser)6389SDHAUncertain significance-1RCV000688361; RCV000688361; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223639223639-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.109G>A (p.Val37Ile)6389SDHAUncertain significance758426529RCV000574162; RCV000229719; RCV000229719; RCV000662820; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655223642223642-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.112G>C (p.Asp38His)6389SDHAUncertain significance1553997174RCV000649394; RCV000649394; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223645223645-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.113A>T (p.Asp38Val)6389SDHABenign/Likely benign34635677RCV000567706; RCV000352522; RCV000210535; RCV000387287; RCV000210535; RCV000295347; RCV000245657; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005223646223646UniProtKB (protein):P31040#VAR_049215C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.123G>A (p.Lys41=)6389SDHALikely benign1553997185RCV000552529; RCV000552529; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223656223656-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.125G>A (p.Arg42Lys)6389SDHAUncertain significance747557411RCV000649445; RCV000649445; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223658223658-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.133G>A (p.Ala45Thr)6389SDHAConflicting interpretations of pathogenicity140736646RCV000572294; RCV000678682; RCV000308179; RCV000210508; RCV000401643; RCV000210508; RCV000410936; RCV000347454; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C2608055; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279995223666223666-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.136A>G (p.Lys46Glu)6389SDHAConflicting interpretations of pathogenicity144599870RCV000569199; RCV000210526; RCV000210526; RCV000410409; RCV000250106; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:CN1693745223669223669-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.146A>G (p.Asp49Gly)6389SDHABenign/Likely benign80207011RCV000130407; RCV000228248; RCV000228248; RCV000410621; RCV000612697; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:CN1693745223679223679-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.148T>G (p.Ser50Ala)6389SDHAUncertain significance-1RCV000688888; RCV000688888; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223681223681-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.150C>T (p.Ser50=)6389SDHAUncertain significance140264486RCV000531485; RCV000531485; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223683223683-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.150+1G>A6389SDHAConflicting interpretations of pathogenicity1057523165RCV000568947; RCV000471142; RCV000471142; RCV000438780; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745223684223684-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.150+2dup6389SDHAUncertain significance-1RCV000689582; RCV000689582; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223685223685-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.150+5G>T6389SDHAUncertain significance-1RCV000704406; RCV000704406; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223688223688-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.150+6T>G6389SDHAUncertain significance1060503699RCV000477184; RCV000477184; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223689223689-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.150+9A>G6389SDHALikely benign1553997201RCV000559846; RCV000559846; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655223692223692-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.154T>A (p.Ser52Thr)6389SDHAUncertain significance150326789RCV000649450; RCV000649450; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224478224478-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.155C>T (p.Ser52Phe)6389SDHAUncertain significance377470390RCV000565564; RCV000239368; RCV000239368; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224479224479-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.162G>A (p.Gln54=)6389SDHALikely benign1468436658RCV000649463; RCV000649463; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224486224486-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.163T>C (p.Tyr55His)6389SDHABenign/Likely benign142926807RCV000570704; RCV000360177; RCV000399750; RCV000464569; RCV000464569; RCV000303103; RCV000606498; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005224487224487-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.169G>T (p.Val57Leu)6389SDHAUncertain significance1060503724RCV000467197; RCV000467197; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224493224493-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.188A>T (p.Asp63Val)6389SDHAUncertain significance1553997327RCV000549810; RCV000549810; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224512224512-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.188A>G (p.Asp63Gly)6389SDHAUncertain significance-1RCV000702942; RCV000702942; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224512224512-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.204C>T (p.Gly68=)6389SDHAUncertain significance1055082816RCV000649420; RCV000649420; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224528224528-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.205G>A (p.Ala69Thr)6389SDHAUncertain significance370481102RCV000234463; RCV000234463; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224529224529-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.219C>G (p.Gly73=)6389SDHALikely benign776288745RCV000228306; RCV000228306; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224543224543-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.223C>T (p.Arg75Ter)6389SDHAPathogenic781764920RCV000575496; RCV000684793; RCV000191050; RCV000684793; RCV000481058; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:CN5172025224547224547OMIM Allelic Variant:600857.0010C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.242C>T (p.Ser81Phe)6389SDHAUncertain significance1553997357RCV000546249; RCV000546249; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224566224566-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.253_256dup (p.Asn86Ilefs)6389SDHAPathogenic-1RCV000698951; RCV000698951; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224577224580-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.260C>T (p.Thr87Ile)6389SDHAUncertain significance756543943RCV000649443; RCV000649443; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224584224584-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.269T>C (p.Val90Ala)6389SDHAUncertain significance886060514RCV000267910; RCV000297336; RCV000354574; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005224593224593-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.284C>G (p.Pro95Arg)6389SDHAUncertain significance1553997377RCV000570222; RCV000558917; RCV000558917; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224608224608-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.287C>T (p.Thr96Ile)6389SDHAUncertain significance377620054RCV000569754; RCV000231817; RCV000231817; RCV000663057; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655224611224611-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.290G>C (p.Arg97Thr)6389SDHAUncertain significance371274523RCV000649462; RCV000649462; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224614224614-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.300T>C (p.Thr100=)6389SDHALikely benign771662494RCV000461867; RCV000461867; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655224624224624-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.309A>G (p.Ala103=)6389SDHABenign/Likely benign1139424RCV000162942; RCV000261547; RCV000385778; RCV000319629; RCV000118318; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745224633224633-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.313-8G>A6389SDHAUncertain significance1060503710RCV000458845; RCV000458845; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225526225526-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.313-7T>C6389SDHAUncertain significance201972549RCV000465323; RCV000465323; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225527225527-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.313-5T>G6389SDHAUncertain significance1060503705RCV000459906; RCV000459906; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225529225529-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.313-3C>T6389SDHAUncertain significance1553997584RCV000572784; RCV000534970; RCV000534970; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225531225531-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.319A>G (p.Ile107Val)6389SDHAUncertain significance1060503720RCV000566699; RCV000462764; RCV000462764; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225540225540-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.323A>G (p.Asn108Ser)6389SDHAUncertain significance758086385RCV000469628; RCV000469628; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225544225544-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.328G>C (p.Ala110Pro)6389SDHAno interpretation for the single variant786205209RCV000170440; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA32085225549225549-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.334G>A (p.Gly112Arg)6389SDHAUncertain significance751114575RCV000472280; RCV000472280; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225555225555-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.336G>C (p.Gly112=)6389SDHALikely benign375645919RCV000548300; RCV000548300; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225557225557-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.340A>G (p.Met114Val)6389SDHAUncertain significance933414586RCV000649403; RCV000649403; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225561225561-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.371A>G (p.Tyr124Cys)6389SDHAUncertain significance935241830RCV000468036; RCV000468036; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225592225592-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.372C>T (p.Tyr124=)6389SDHALikely benign754393360RCV000460760; RCV000460760; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225593225593-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.373G>A (p.Asp125Asn)6389SDHAUncertain significance780654623RCV000528854; RCV000528854; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225594225594-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.378C>T (p.Thr126=)6389SDHALikely benign756039268RCV000469212; RCV000469212; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225599225599-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.378delC (p.Val127Terfs)6389SDHAPathogenic1553997617RCV000539370; RCV000539370; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225599225599-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.379G>A (p.Val127Met)6389SDHAUncertain significance777600956RCV000569237; RCV000473055; RCV000473055; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225600225600-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.389C>G (p.Ser130Cys)6389SDHAUncertain significance1553997625RCV000537028; RCV000537028; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225610225610-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.390C>T (p.Ser130=)6389SDHALikely benign748976493RCV000571960; RCV000649489; RCV000649489; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225611225611-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.391G>A (p.Asp131Asn)6389SDHAUncertain significance1324014370RCV000575285; RCV000691087; RCV000691087; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225612225612-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.408G>A (p.Gln136=)6389SDHALikely benign190477316RCV000567403; RCV000469927; RCV000469927; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225629225629-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.411T>A (p.Asp137Glu)6389SDHAUncertain significance1444399160RCV000525177; RCV000525177; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225632225632-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.413C>T (p.Ala138Val)6389SDHAUncertain significance1342456775RCV000542175; RCV000542175; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225634225634-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.419A>G (p.His140Arg)6389SDHAUncertain significance759266253RCV000457011; RCV000457011; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225640225640-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.423C>T (p.Tyr141=)6389SDHALikely benign768897373RCV000567577; RCV000234606; RCV000234606; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225644225644-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.424A>G (p.Met142Val)6389SDHAUncertain significance776848209RCV000457452; RCV000457452; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225645225645-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.428C>T (p.Thr143Met)6389SDHAUncertain significance200675907RCV000471253; RCV000471253; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225649225649-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.429G>A (p.Thr143=)6389SDHAUncertain significance906281170RCV000550383; RCV000550383; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225650225650-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.437C>T (p.Ala146Val)6389SDHAUncertain significance1060503714RCV000472132; RCV000472132; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225658225658-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.441C>T (p.Pro147=)6389SDHAConflicting interpretations of pathogenicity201453889RCV000564203; RCV000332396; RCV000233726; RCV000389166; RCV000233726; RCV000274933; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005225662225662-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.442G>A (p.Ala148Thr)6389SDHAUncertain significance375576259RCV000572868; RCV000287726; RCV000228365; RCV000383376; RCV000228365; RCV000345164; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005225663225663-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.444C>T (p.Ala148=)6389SDHALikely benign367618662RCV000570539; RCV000649472; RCV000649472; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225665225665-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.445G>A (p.Ala149Thr)6389SDHAUncertain significance575617625RCV000571754; RCV000702947; RCV000702947; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225666225666-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.446C>T (p.Ala149Val)6389SDHAUncertain significance1060503709RCV000473445; RCV000473445; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225667225667-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.447C>T (p.Ala149=)6389SDHALikely benign752187837RCV000567589; RCV000649485; RCV000649485; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225668225668-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.448G>A (p.Val150Met)6389SDHAUncertain significance542980860RCV000562589; RCV000695590; RCV000695590; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225669225669-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.451G>A (p.Val151Ile)6389SDHAUncertain significance143148642RCV000232272; RCV000232272; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225672225672-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.453C>T (p.Val151=)6389SDHALikely benign138917116RCV000226323; RCV000226323; RCV000603740; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745225674225674-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.453C>A (p.Val151=)6389SDHAUncertain significance138917116RCV000475275; RCV000475275; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225674225674-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.453C>G (p.Val151=)6389SDHALikely benign138917116RCV000649486; RCV000649486; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225674225674-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.454G>A (p.Glu152Lys)6389SDHAUncertain significance778737664RCV000526392; RCV000526392; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225675225675-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.456+6G>T6389SDHAConflicting interpretations of pathogenicity371735891RCV000230222; RCV000230222; RCV000662807; RCV000433531; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:CN1693745225683225683-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.456+9C>T6389SDHAConflicting interpretations of pathogenicity200565489RCV000458063; RCV000458063; RCV000662487; RCV000436401; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:CN1693745225686225686-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.456+10G>A6389SDHALikely benign781436294RCV000541963; RCV000541963; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225687225687-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.457-4A>G6389SDHALikely benign770052391RCV000554430; RCV000554430; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225994225994-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.457-2_457delAGC6389SDHALikely pathogenic878854632RCV000231881; RCV000231881; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655225996225998-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.460G>A (p.Glu154Lys)6389SDHAUncertain significance-1RCV000699059; RCV000699059; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226001226001-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.461A>G (p.Glu154Gly)6389SDHAUncertain significance777873911RCV000570801; RCV000691114; RCV000691114; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226002226002-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.464A>G (p.Asn155Ser)6389SDHAUncertain significance749824479RCV000530738; RCV000530738; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226005226005-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.466T>G (p.Tyr156Asp)6389SDHAUncertain significance569384870RCV000473140; RCV000473140; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226007226007-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.471C>T (p.Gly157=)6389SDHAUncertain significance1553997722RCV000649444; RCV000649444; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226012226012-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.476C>T (p.Pro159Leu)6389SDHAUncertain significance759827541RCV000219502; RCV000649409; RCV000649409; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226017226017-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.477G>A (p.Pro159=)6389SDHALikely benign771741537RCV000538620; RCV000538620; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226018226018-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.477G>T (p.Pro159=)6389SDHALikely benign771741537RCV000649476; RCV000649476; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226018226018-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.480T>G (p.Phe160Leu)6389SDHAUncertain significance1060503711RCV000467274; RCV000467274; RCV000662662; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655226021226021-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.496G>A (p.Gly166Arg)6389SDHAUncertain significance1060503712RCV000470736; RCV000470736; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226037226037-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.499A>C (p.Lys167Gln)6389SDHAUncertain significance-1RCV000707259; RCV000707259; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226040226040-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.503T>C (p.Ile168Thr)6389SDHAUncertain significance1553997748RCV000649435; RCV000649435; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226044226044-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.505T>C (p.Tyr169His)6389SDHAUncertain significance1553997754RCV000649448; RCV000649448; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226046226046-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.512G>A (p.Arg171His)6389SDHAUncertain significance587782076RCV000130572; RCV000466700; RCV000466700; RCV000512840; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN5172025226053226053-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.513T>C (p.Arg171=)6389SDHALikely benign765157205RCV000226781; RCV000226781; RCV000412315; RCV000441092; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:CN1693745226054226054-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.516A>G (p.Ala172=)6389SDHALikely benign181278759RCV000572674; RCV000464972; RCV000464972; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226057226057-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.530G>C (p.Ser177Thr)6389SDHAUncertain significance1553997783RCV000649441; RCV000649441; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226071226071-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.534C>T (p.Leu178=)6389SDHALikely benign749329370RCV000229841; RCV000229841; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226075226075-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.546G>A (p.Lys182=)6389SDHALikely benign757707693RCV000649488; RCV000649488; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226087226087-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.549C>T (p.Gly183=)6389SDHABenign/Likely benign61733344RCV000571465; RCV000291747; RCV000239367; RCV000394814; RCV000239367; RCV000339713; RCV000418051; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005226090226090-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.550G>A (p.Gly184Arg)6389SDHABenign/Likely benign148246073RCV000575599; RCV000390055; RCV000204241; RCV000343277; RCV000204241; RCV000304507; RCV000514856; RCV000607544; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005226091226091-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.553C>T (p.Gln185Ter)6389SDHAPathogenic775827529RCV000575535; RCV000702668; RCV000702668; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226094226094-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.558C>T (p.Ala186=)6389SDHALikely benign199618059RCV000649483; RCV000649483; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226099226099-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.562C>T (p.Arg188Trp)6389SDHAUncertain significance553257776RCV000571189; RCV000555353; RCV000555353; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226103226103-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.563G>A (p.Arg188Gln)6389SDHAUncertain significance139881415RCV000531381; RCV000531381; RCV000518854; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745226104226104-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.570C>T (p.Cys190=)6389SDHALikely benign1060505008RCV000475983; RCV000475983; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226111226111-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.584G>A (p.Arg195Gln)6389SDHAUncertain significance762956849RCV000544157; RCV000544157; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226125226125-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.587C>T (p.Thr196Ile)6389SDHAUncertain significance-1RCV000698681; RCV000698681; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226128226128-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.589G>C (p.Gly197Arg)6389SDHAUncertain significance-1RCV000692173; RCV000692173; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226130226130-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.596C>T (p.Ser199Leu)6389SDHAUncertain significance878854633RCV000232616; RCV000232616; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226137226137-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.597G>A (p.Ser199=)6389SDHALikely benign141874250RCV000569336; RCV000469362; RCV000469362; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226138226138-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.598C>T (p.Leu200=)6389SDHALikely benign764307917RCV000568755; RCV000475350; RCV000475350; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226139226139-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.600A>G (p.Leu200=)6389SDHALikely benign201967413RCV000572465; RCV000239373; RCV000239373; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226141226141-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.607A>G (p.Thr203Ala)6389SDHAUncertain significance373340696RCV000575357; RCV000458356; RCV000458356; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226148226148-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.613T>C (p.Tyr205His)6389SDHAUncertain significance61754481RCV000575607; RCV000471598; RCV000471598; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226154226154-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.619A>C (p.Arg207=)6389SDHABenign/Likely benign6555055RCV000162480; RCV000298743; RCV000263653; RCV000355926; RCV000118319; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745226160226160-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.621+8C>T6389SDHALikely benign201091275RCV000227518; RCV000227518; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226170226170-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.621+9G>A6389SDHALikely benign1060505005RCV000470380; RCV000470380; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655226171226171-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.622-8T>C6389SDHAConflicting interpretations of pathogenicity370714378RCV000233358; RCV000233358; RCV000411772; RCV000427201; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:CN1693745228292228292-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.622-5T>C6389SDHAConflicting interpretations of pathogenicity878854634RCV000569503; RCV000229170; RCV000229170; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228295228295-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.622-1G>A6389SDHALikely pathogenic1285132774RCV000649416; RCV000649416; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228299228299-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.627G>A (p.Leu209=)6389SDHALikely benign149821224RCV000458176; RCV000458176; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228305228305-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.628C>T (p.Arg210Ter)6389SDHAPathogenic775143272RCV000649430; RCV000649430; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228306228306-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.629G>A (p.Arg210Gln)6389SDHAUncertain significance-1RCV000687867; RCV000687867; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228307228307-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.638C>A (p.Thr213Asn)6389SDHAUncertain significance766421069RCV000472577; RCV000472577; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228316228316-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.640A>G (p.Ser214Gly)6389SDHAUncertain significance-1RCV000706981; RCV000706981; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228318228318-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.644_645delAT (p.Tyr215Phefs)6389SDHAPathogenic-1RCV000690156; RCV000690156; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228322228323-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.664T>G (p.Leu222Val)6389SDHAUncertain significance1553998191RCV000545927; RCV000545927; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228342228342-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.666G>T (p.Leu222Phe)6389SDHAUncertain significance778256616RCV000463550; RCV000463550; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228344228344-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.667delG (p.Asp223Ilefs)6389SDHAPathogenic587782077RCV000130573; RCV000527052; RCV000527052; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228345228345-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.678G>A (p.Met226Ile)6389SDHAUncertain significance-1RCV000687038; RCV000687038; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228356228356-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.684T>C (p.Asn228=)6389SDHABenign/Likely benign2115272RCV000162481; RCV000368927; RCV000311792; RCV000276689; RCV000118320; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745228362228362-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.688G>C (p.Glu230Gln)6389SDHAUncertain significance1436777353RCV000649449; RCV000649449; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228366228366-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.694C>T (p.Arg232Cys)6389SDHAUncertain significance878854635RCV000231015; RCV000231015; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228372228372-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.695G>A (p.Arg232His)6389SDHAUncertain significance1060503708RCV000473347; RCV000473347; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228373228373-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.698G>T (p.Gly233Val)6389SDHAUncertain significance878854636RCV000233811; RCV000233811; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228376228376-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.704T>C (p.Ile235Thr)6389SDHAUncertain significance144513891RCV000562815; RCV000203953; RCV000203953; RCV000410184; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655228382228382-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.705C>T (p.Ile235=)6389SDHALikely benign549892491RCV000570641; RCV000649478; RCV000649478; RCV000604923; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745228383228383-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.706G>A (p.Ala236Thr)6389SDHAUncertain significance774160524RCV000558609; RCV000558609; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228384228384-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.707C>T (p.Ala236Val)6389SDHAUncertain significance1060503703RCV000458180; RCV000458180; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228385228385-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.713G>T (p.Cys238Phe)6389SDHAUncertain significance1168458733RCV000534290; RCV000534290; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228391228391-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.715A>G (p.Ile239Val)6389SDHAUncertain significance760106352RCV000561650; RCV000461851; RCV000461851; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228393228393-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.720_722delGGA (p.Glu240del)6389SDHAUncertain significance-1RCV000688908; RCV000688908; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228398228400-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.722_726delACGGG (p.Asp241Valfs)6389SDHAPathogenic1553998229RCV000649431; RCV000649431; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228400228404-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.723C>T (p.Asp241=)6389SDHAConflicting interpretations of pathogenicity146653693RCV000562470; RCV000381733; RCV000334152; RCV000457962; RCV000457962; RCV000275715; RCV000423425; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005228401228401-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.724G>A (p.Gly242Arg)6389SDHAUncertain significance764534044RCV000227862; RCV000227862; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228402228402-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.728C>T (p.Ser243Phe)6389SDHAUncertain significance756966025RCV000551321; RCV000551321; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228406228406-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.733C>G (p.His245Asp)6389SDHAUncertain significance1060503716RCV000456392; RCV000456392; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228411228411-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.739A>G (p.Ile247Val)6389SDHAUncertain significance571292356RCV000214276; RCV000230633; RCV000230633; RCV000663181; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655228417228417-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.749A>G (p.Lys250Arg)6389SDHAUncertain significance1060503700RCV000463173; RCV000463173; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228427228427-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.752A>C (p.Asn251Thr)6389SDHAUncertain significance-1RCV000693374; RCV000693374; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228430228430-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.753C>G (p.Asn251Lys)6389SDHAUncertain significance1126411RCV000559467; RCV000559467; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228431228431-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.757G>A (p.Val253Ile)6389SDHAUncertain significance1126412RCV000470372; RCV000470372; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228435228435-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.762_770+17del266389SDHALikely pathogenic1041809852RCV000456955; RCV000456955; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228440228465-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.766A>G (p.Thr256Ala)6389SDHAUncertain significance-1RCV000694488; RCV000694488; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655228444228444-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.771-11A>G6389SDHABenign/Likely benign2288461RCV000492269; RCV000281527; RCV000375985; RCV000330761; RCV000245369; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745230980230980-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.777C>T (p.Tyr259=)6389SDHALikely benign140243793RCV000567901; RCV000234552; RCV000234552; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655230997230997-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.778G>A (p.Gly260Arg)6389SDHAUncertain significance940845256RCV000460623; RCV000460623; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655230998230998-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.781C>T (p.Arg261Cys)6389SDHAUncertain significance143484394RCV000649447; RCV000649447; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231001231001-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.789C>T (p.Tyr263=)6389SDHALikely benign1553998616RCV000649468; RCV000649468; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231009231009-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.792C>G (p.Phe264Leu)6389SDHAUncertain significance1237513803RCV000535514; RCV000535514; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231012231012-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.800C>T (p.Thr267Met)6389SDHAUncertain significance777167108RCV000477464; RCV000477464; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231020231020-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.801G>A (p.Thr267=)6389SDHALikely benign543630901RCV000457309; RCV000457309; RCV000602583; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745231021231021-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.812C>G (p.Thr271Ser)6389SDHAUncertain significance765611464RCV000463083; RCV000463083; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231032231032-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.818C>T (p.Thr273Ile)6389SDHAConflicting interpretations of pathogenicity587781720RCV000129906; RCV000649428; RCV000409578; RCV000649428; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655231038231038-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.822C>T (p.Gly274=)6389SDHABenign/Likely benign34771391RCV000570502; RCV000287211; RCV000210510; RCV000317795; RCV000210510; RCV000372488; RCV000426962; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005231042231042-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.822C>A (p.Gly274=)6389SDHALikely benign34771391RCV000551101; RCV000551101; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231042231042-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.823G>A (p.Asp275Asn)6389SDHAUncertain significance1553998629RCV000527085; RCV000527085; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231043231043-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.825C>T (p.Asp275=)6389SDHALikely benign1237373391RCV000539832; RCV000539832; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231045231045-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.826G>A (p.Gly276Ser)6389SDHAUncertain significance751008647RCV000472703; RCV000472703; RCV000663336; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655231046231046-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.828C>T (p.Gly276=)6389SDHAUncertain significance754910183RCV000547755; RCV000547755; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231048231048-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.830C>T (p.Thr277Met)6389SDHAUncertain significance367721665RCV000570331; RCV000283732; RCV000228322; RCV000396726; RCV000228322; RCV000411374; RCV000342145; RCV000208222; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; Hu5231050231050-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.830C>A (p.Thr277Lys)6389SDHAUncertain significance367721665RCV000649456; RCV000649456; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231050231050-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.831G>A (p.Thr277=)6389SDHALikely benign1470632146RCV000528017; RCV000528017; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231051231051-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.834C>T (p.Ala278=)6389SDHALikely benign1553998649RCV000573575; RCV000540465; RCV000540465; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231054231054-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.835A>G (p.Met279Val)6389SDHAUncertain significance755913710RCV000468486; RCV000468486; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231055231055-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.837G>T (p.Met279Ile)6389SDHAUncertain significance-1RCV000703041; RCV000703041; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231057231057-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.844A>G (p.Arg282Gly)6389SDHAUncertain significance1553998658RCV000553235; RCV000553235; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231064231064-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.852C>G (p.Gly284=)6389SDHALikely benign552108762RCV000529223; RCV000529223; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231072231072-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.853C>T (p.Leu285Phe)6389SDHAUncertain significance747045191RCV000649446; RCV000649446; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231073231073-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.861C>G (p.Cys287Trp)6389SDHAUncertain significance-1RCV000705741; RCV000705741; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231081231081-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.873G>A (p.Glu291=)6389SDHALikely benign570393010RCV000463231; RCV000463231; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231093231093-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.880C>T (p.Gln294Ter)6389SDHAPathogenic-1RCV000706931; RCV000706931; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231100231100-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.888C>T (p.His296=)6389SDHALikely benign1553998666RCV000555001; RCV000555001; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231108231108-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.891T>C (p.Pro297=)6389SDHABenign/Likely benign1126417RCV000162482; RCV000400279; RCV000347829; RCV000308030; RCV000118321; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745231111231111-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.894A>G (p.Thr298=)6389SDHALikely benign774584410RCV000531297; RCV000531297; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655231114231114-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.896-4G>A6389SDHALikely benign555881974RCV000543768; RCV000543768; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233588233588-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.899T>C (p.Ile300Thr)6389SDHAUncertain significance878854637RCV000232508; RCV000232508; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233595233595-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.901T>C (p.Tyr301His)6389SDHAUncertain significance1060503713RCV000477068; RCV000477068; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233597233597-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.902A>G (p.Tyr301Cys)6389SDHAUncertain significance-1RCV000701878; RCV000701878; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233598233598-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.914G>T (p.Cys305Phe)6389SDHAUncertain significance878854638RCV000234148; RCV000234148; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233610233610-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.914G>A (p.Cys305Tyr)6389SDHAUncertain significance878854638RCV000575963; RCV000468097; RCV000468097; RCV000662791; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655233610233610-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.918C>G (p.Leu306=)6389SDHALikely benign138828792RCV000568221; RCV000239363; RCV000239363; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233614233614-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.919A>G (p.Ile307Val)6389SDHAUncertain significance200632016RCV000229059; RCV000229059; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233615233615-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.923C>T (p.Thr308Met)6389SDHAUncertain significance1457666982RCV000563497; RCV000560478; RCV000560478; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233619233619-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.924G>A (p.Thr308=)6389SDHAUncertain significance1355760590RCV000531991; RCV000531991; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233620233620-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.935G>A (p.Arg312His)6389SDHAUncertain significance-1RCV000692412; RCV000692412; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233631233631-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.940G>A (p.Glu314Lys)6389SDHAUncertain significance1337704280RCV000649440; RCV000649440; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233636233636-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.942G>A (p.Glu314=)6389SDHALikely benign1553998977RCV000544759; RCV000544759; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233638233638-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.955A>C (p.Ile319Leu)6389SDHAUncertain significance377509915RCV000565889; RCV000462816; RCV000462816; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233651233651-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.955A>G (p.Ile319Val)6389SDHAUncertain significance377509915RCV000557149; RCV000557149; RCV000662946; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655233651233651-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.957T>C (p.Ile319=)6389SDHALikely benign757167466RCV000536309; RCV000536309; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233653233653-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.965A>C (p.Gln322Pro)6389SDHAUncertain significance1553998989RCV000649453; RCV000649453; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233661233661-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.967G>A (p.Gly323Ser)6389SDHAUncertain significance1553998991RCV000649460; RCV000649460; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233663233663-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.969C>T (p.Gly323=)6389SDHABenign/Likely benign142849100RCV000129664; RCV000362684; RCV000203785; RCV000314076; RCV000203785; RCV000399972; RCV000246464; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005233665233665-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.969C>A (p.Gly323=)6389SDHALikely benign142849100RCV000548814; RCV000548814; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233665233665-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.970G>A (p.Glu324Lys)6389SDHAUncertain significance147014102RCV000649457; RCV000649457; RCV000662695; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655233666233666-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.985C>T (p.Arg329Ter)6389SDHAPathogenic771328239RCV000462116; RCV000462116; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233681233681-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.985C>G (p.Arg329Gly)6389SDHAUncertain significance771328239RCV000556956; RCV000556956; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233681233681-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.986G>A (p.Arg329Gln)6389SDHAUncertain significance-1RCV000690290; RCV000690290; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233682233682-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.990C>T (p.Tyr330=)6389SDHALikely benign370547766RCV000537496; RCV000537496; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233686233686-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.991G>A (p.Ala331Thr)6389SDHAUncertain significance200526913RCV000567963; RCV000239369; RCV000239369; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233687233687-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.994C>G (p.Pro332Ala)6389SDHAUncertain significance373509391RCV000563954; RCV000229794; RCV000229794; RCV000194437; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745233690233690-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.994C>T (p.Pro332Ser)6389SDHAUncertain significance373509391RCV000564552; RCV000549735; RCV000549735; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233690233690-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.995_996delCT (p.Pro332Argfs)6389SDHAPathogenic-1RCV000697696; RCV000697696; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233691233692-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.996_998delTGTinsCAC (p.Val333Thr)6389SDHAUncertain significance1057517540RCV000649427; RCV000410220; RCV000649427; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655233692233694-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.996_997invTG (p.Val333Ile)6389SDHAUncertain significance-1RCV000473544; RCV000473544; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233692233693-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.997G>C (p.Val333Leu)6389SDHAUncertain significance1062468RCV000469550; RCV000469550; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233693233693-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.999C>G (p.Val333=)6389SDHALikely benign149556555RCV000525741; RCV000525741; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233695233695-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1000G>A (p.Ala334Thr)6389SDHAUncertain significance1401459296RCV000533503; RCV000533503; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233696233696-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1001C>T (p.Ala334Val)6389SDHAUncertain significance765180271RCV000546125; RCV000546125; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233697233697-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1002G>A (p.Ala334=)6389SDHALikely benign144252500RCV000570639; RCV000239366; RCV000239366; RCV000421519; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745233698233698-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1004A>C (p.Lys335Thr)6389SDHAUncertain significance-1RCV000696711; RCV000696711; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233700233700-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1006G>T (p.Asp336Tyr)6389SDHAUncertain significance1553999038RCV000707079; RCV000662766; RCV000707079; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655233702233702-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1013C>T (p.Ala338Val)6389SDHAUncertain significance-1RCV000706884; RCV000706884; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233709233709-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1014G>A (p.Ala338=)6389SDHALikely benign201341132RCV000563364; RCV000456689; RCV000456689; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233710233710-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1016C>T (p.Ser339Phe)6389SDHAUncertain significance1553999043RCV000649398; RCV000649398; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233712233712-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1026G>T (p.Val342=)6389SDHALikely benign1060505004RCV000475138; RCV000475138; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233722233722-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1026G>A (p.Val342=)6389SDHALikely benign1060505004RCV000553862; RCV000553862; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233722233722-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1034G>A (p.Arg345Gln)6389SDHAUncertain significance1483236652RCV000530018; RCV000530018; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233730233730-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1037_1038invCC (p.Ser346Trp)6389SDHAUncertain significance-1RCV000694354; RCV000694354; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233733233734-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1038C>G (p.Ser346=)6389SDHABenign/Likely benign1041949RCV000162943; RCV000368680; RCV000274141; RCV000319420; RCV000118311; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745233734233734-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1040T>C (p.Met347Thr)6389SDHAUncertain significance1553999054RCV000546880; RCV000546880; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233736233736-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1041G>A (p.Met347Ile)6389SDHAUncertain significance-1RCV000701089; RCV000701089; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233737233737-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1042A>T (p.Thr348Ser)6389SDHAUncertain significance371484111RCV000469012; RCV000469012; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233738233738-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1054C>T (p.Arg352Ter)6389SDHAPathogenic746165168RCV000567631; RCV000232152; RCV000232152; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233750233750-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1055G>A (p.Arg352Gln)6389SDHAUncertain significance199844384RCV000563279; RCV000463749; RCV000411606; RCV000463749; RCV000498298; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:CN1693745233751233751-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1064+4C>T6389SDHAConflicting interpretations of pathogenicity768276870RCV000575680; RCV000225995; RCV000225995; RCV000442519; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745233764233764-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1064+4C>A6389SDHAUncertain significance768276870RCV000559435; RCV000559435; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233764233764-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1064+5G>A6389SDHAUncertain significance200021115RCV000561515; RCV000466048; RCV000411854; RCV000466048; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655233765233765-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1064+5G>C6389SDHAUncertain significance200021115RCV000565700; RCV000471485; RCV000471485; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233765233765-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1064+10A>G6389SDHALikely benign773168516RCV000470996; RCV000470996; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655233770233770-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1065-4C>A6389SDHAConflicting interpretations of pathogenicity575007678RCV000573469; RCV000543416; RCV000543416; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235255235255-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1070G>A (p.Cys357Tyr)6389SDHAUncertain significance-1RCV000704504; RCV000704504; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235264235264-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1071T>C (p.Cys357=)6389SDHALikely benign1553999410RCV000535339; RCV000535339; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235265235265-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1078G>A (p.Glu360Lys)6389SDHAUncertain significance766779919RCV000649417; RCV000649417; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235272235272-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1087C>G (p.His363Asp)6389SDHAUncertain significance1553999417RCV000649392; RCV000649392; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235281235281-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1089C>T (p.His363=)6389SDHALikely benign368488126RCV000473235; RCV000473235; RCV000423532; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745235283235283-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1090G>A (p.Val364Ile)6389SDHAUncertain significance372738835RCV000561241; RCV000463908; RCV000463908; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235284235284-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1090G>C (p.Val364Leu)6389SDHAUncertain significance372738835RCV000535289; RCV000535289; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235284235284-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1092C>T (p.Val364=)6389SDHAUncertain significance886060515RCV000316002; RCV000260734; RCV000355512; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005235286235286-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.1107C>A (p.His369Gln)6389SDHAUncertain significance1268877544RCV000649425; RCV000649425; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235301235301-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1108C>A (p.His370Asn)6389SDHAUncertain significance1060503704RCV000464973; RCV000464973; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235302235302-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1115C>G (p.Pro372Arg)6389SDHAUncertain significance141493530RCV000575145; RCV000477582; RCV000477582; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235309235309-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1130C>A (p.Ala377Asp)6389SDHAUncertain significance1553999443RCV000547611; RCV000547611; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235324235324-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1133C>T (p.Thr378Met)6389SDHAUncertain significance777420907RCV000649406; RCV000649406; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235327235327-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1134G>A (p.Thr378=)6389SDHALikely benign370002515RCV000461455; RCV000461455; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235328235328-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1135C>T (p.Arg379Cys)6389SDHAUncertain significance749309213RCV000214185; RCV000459361; RCV000459361; RCV000514432; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN5172025235329235329-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1136G>A (p.Arg379His)6389SDHAUncertain significance770719847RCV000477473; RCV000477473; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235330235330-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1140G>A (p.Leu380=)6389SDHALikely benign146348714RCV000473616; RCV000473616; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235334235334-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1144G>A (p.Gly382Ser)6389SDHAUncertain significance1272640628RCV000649451; RCV000649451; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235338235338-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1150T>G (p.Ser384Ala)6389SDHAUncertain significance776888362RCV000528318; RCV000528318; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235344235344-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1156A>G (p.Thr386Ala)6389SDHAUncertain significance1553999461RCV000649410; RCV000649410; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235350235350-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1157C>T (p.Thr386Ile)6389SDHAUncertain significance773218958RCV000649424; RCV000649424; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235351235351-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1170C>T (p.Phe390=)6389SDHABenign/Likely benign35277230RCV000163257; RCV000379943; RCV000321449; RCV000470511; RCV000470511; RCV000285173; RCV000118312; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005235364235364-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1171G>T (p.Ala391Ser)6389SDHAUncertain significance376597185RCV000536076; RCV000536076; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235365235365-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1171G>A (p.Ala391Thr)6389SDHAUncertain significance376597185RCV000649414; RCV000649414; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235365235365-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1176C>T (p.Gly392=)6389SDHAConflicting interpretations of pathogenicity1041950RCV000561058; RCV000461984; RCV000461984; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235370235370-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1177G>T (p.Val393Leu)6389SDHAUncertain significance372989971RCV000548710; RCV000548710; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235371235371-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1182C>T (p.Asp394=)6389SDHALikely benign377317558RCV000232577; RCV000232577; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235376235376-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1183G>T (p.Val395Phe)6389SDHAUncertain significance748683825RCV000524573; RCV000524573; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235377235377-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1183G>A (p.Val395Ile)6389SDHAUncertain significance748683825RCV000649396; RCV000649396; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235377235377-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1187C>T (p.Thr396Met)6389SDHAUncertain significance757251714RCV000571028; RCV000706201; RCV000706201; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235381235381-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1188G>A (p.Thr396=)6389SDHALikely benign778667374RCV000541698; RCV000541698; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235382235382-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1196C>T (p.Pro399Leu)6389SDHAUncertain significance878854625RCV000226409; RCV000226409; RCV000663203; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655235390235390-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1197G>A (p.Pro399=)6389SDHALikely benign771919335RCV000474220; RCV000474220; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235391235391-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1203T>C (p.Pro401=)6389SDHALikely benign1553999484RCV000649484; RCV000649484; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235397235397-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1206C>T (p.Val402=)6389SDHALikely benign1183961449RCV000555221; RCV000555221; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235400235400-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1214C>A (p.Thr405Asn)6389SDHAUncertain significance1553999491RCV000526540; RCV000526540; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235408235408-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1215C>T (p.Thr405=)6389SDHALikely benign762888704RCV000229253; RCV000229253; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235409235409-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1216G>A (p.Val406Met)6389SDHAUncertain significance1258201485RCV000562001; RCV000649439; RCV000649439; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235410235410-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1225A>C (p.Asn409His)6389SDHAUncertain significance1404377989RCV000539132; RCV000539132; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235419235419-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1229T>C (p.Met410Thr)6389SDHAUncertain significance1553999505RCV000556000; RCV000556000; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235423235423-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1233C>T (p.Gly411=)6389SDHALikely benign376530094RCV000569519; RCV000468789; RCV000468789; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235427235427-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1233C>A (p.Gly411=)6389SDHALikely benign376530094RCV000532183; RCV000532183; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235427235427-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1234G>T (p.Gly412Cys)6389SDHAUncertain significance768055345RCV000570013; RCV000233529; RCV000233529; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235428235428-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1234G>A (p.Gly412Ser)6389SDHAUncertain significance768055345RCV000564411; RCV000544502; RCV000544502; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235428235428-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1242C>T (p.Pro414=)6389SDHALikely benign777306884RCV000227375; RCV000227375; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235436235436-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1250A>G (p.Tyr417Cys)6389SDHAUncertain significance528628545RCV000531820; RCV000531820; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235444235444-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1257G>A (p.Gly419=)6389SDHALikely benign753410011RCV000474023; RCV000474023; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235451235451-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1260+4A>G6389SDHAUncertain significance1060503702RCV000456569; RCV000456569; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235458235458-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1260+8T>A6389SDHALikely benign1325588204RCV000649474; RCV000649474; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235462235462-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1260+9G>T6389SDHALikely benign1060505003RCV000468116; RCV000468116; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655235463235463-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1261-9T>A6389SDHAUncertain significance1553999698RCV000649452; RCV000649452; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236534236534-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1261-5delinsGAAA6389SDHAUncertain significance1553999701RCV000649434; RCV000649434; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236538236538-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1261-5C>A6389SDHALikely benign751471707RCV000649479; RCV000649479; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236538236538-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1261-4A>T6389SDHALikely benign1553999703RCV000544427; RCV000544427; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236539236539-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1261-3C>T6389SDHAUncertain significance1553999705RCV000649473; RCV000649473; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236540236540-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1272C>G (p.His424Gln)6389SDHAUncertain significance754805626RCV000477192; RCV000477192; RCV000521376; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745236554236554-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1272C>T (p.His424=)6389SDHALikely benign754805626RCV000561553; RCV000556683; RCV000556683; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236554236554-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1273G>A (p.Val425Met)6389SDHAUncertain significance201822097RCV000569607; RCV000231334; RCV000231334; RCV000663187; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655236555236555-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1273G>T (p.Val425Leu)6389SDHAUncertain significance201822097RCV000573766; RCV000532863; RCV000532863; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236555236555-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1277A>G (p.Asn426Ser)6389SDHAUncertain significance1060503725RCV000463371; RCV000463371; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236559236559-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1290G>A (p.Gln430=)6389SDHALikely benign772728779RCV000545202; RCV000545202; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236572236572-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1292T>C (p.Ile431Thr)6389SDHAUncertain significance776188923RCV000461342; RCV000461342; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236574236574-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1297C>T (p.Pro433Ser)6389SDHAUncertain significance-1RCV000687479; RCV000687479; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236579236579-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1298C>T (p.Pro433Leu)6389SDHAUncertain significance747488969RCV000649415; RCV000649415; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236580236580-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1299C>T (p.Pro433=)6389SDHALikely benign144473374RCV000566607; RCV000233072; RCV000233072; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236581236581-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1300G>A (p.Gly434Ser)6389SDHAUncertain significance529198317RCV000557736; RCV000557736; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236582236582-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1305G>T (p.Leu435=)6389SDHABenign/Likely benign35964044RCV000565630; RCV000291485; RCV000210529; RCV000346462; RCV000210529; RCV000376037; RCV000242588; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005236587236587-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1305G>C (p.Leu435=)6389SDHALikely benign35964044RCV000533635; RCV000533635; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236587236587-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1308C>T (p.Tyr436=)6389SDHALikely benign762494024RCV000550792; RCV000550792; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236590236590-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1309G>A (p.Ala437Thr)6389SDHAUncertain significance1553999731RCV000649418; RCV000649418; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236591236591-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1311C>T (p.Ala437=)6389SDHALikely benign377506772RCV000563511; RCV000649480; RCV000649480; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236593236593-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1313G>T (p.Cys438Phe)6389SDHAUncertain significance1424809160RCV000649397; RCV000649397; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236595236595-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1324G>A (p.Ala442Thr)6389SDHAUncertain significance754893758RCV000649436; RCV000649436; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236606236606-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1332C>G (p.Ala444=)6389SDHALikely benign1060505011RCV000466826; RCV000466826; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236614236614-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1334C>T (p.Ser445Leu)6389SDHAUncertain significance1296066077RCV000559654; RCV000559654; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236616236616-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1335G>T (p.Ser445=)6389SDHALikely benign200223188RCV000465382; RCV000465382; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236617236617-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1335G>A (p.Ser445=)6389SDHAUncertain significance-1RCV000703828; RCV000703828; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236617236617-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1340A>G (p.His447Arg)6389SDHAUncertain significance779151375RCV000649422; RCV000649422; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236622236622-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1344T>C (p.Gly448=)6389SDHALikely benign551497992RCV000571567; RCV000467921; RCV000467921; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236626236626-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1346C>G (p.Ala449Gly)6389SDHAUncertain significance201139275RCV000575726; RCV000535887; RCV000535887; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236628236628-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1350C>T (p.Asn450=)6389SDHALikely benign533902090RCV000565044; RCV000649477; RCV000649477; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236632236632-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1352G>A (p.Arg451His)6389SDHAUncertain significance-1RCV000705227; RCV000705227; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236634236634-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1353C>G (p.Arg451=)6389SDHALikely benign555342133RCV000566165; RCV000649481; RCV000649481; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236635236635-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1356C>T (p.Leu452=)6389SDHALikely benign748496836RCV000567112; RCV000464405; RCV000464405; RCV000420514; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745236638236638-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1357G>A (p.Gly453Arg)6389SDHAUncertain significance770028533RCV000548237; RCV000548237; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236639236639-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1360G>T (p.Ala454Ser)6389SDHAUncertain significance-1RCV000704760; RCV000704760; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236642236642-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1361C>A (p.Ala454Glu)6389SDHAUncertain significance1553999766RCV000528914; RCV000528914; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236643236643-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1367C>T (p.Ser456Leu)6389SDHABenign76896145RCV000649467; RCV000649467; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236649236649-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1368G>A (p.Ser456=)6389SDHALikely benign149875171RCV000570838; RCV000210523; RCV000210523; RCV000247565; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745236650236650-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1378C>T (p.Leu460=)6389SDHALikely benign760686493RCV000573583; RCV000541221; RCV000541221; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236660236660-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1382T>C (p.Val461Ala)6389SDHAUncertain significance767452676RCV000649421; RCV000649421; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236664236664-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1393C>T (p.Arg465Trp)6389SDHAUncertain significance752461029RCV000227745; RCV000227745; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236675236675-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1396G>T (p.Ala466Ser)6389SDHAUncertain significance111387770RCV000525154; RCV000525154; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236678236678-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1396G>A (p.Ala466Thr)6389SDHABenign111387770RCV000574670; RCV000549321; RCV000549321; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236678236678-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1398A>G (p.Ala466=)6389SDHALikely benign878854626RCV000230580; RCV000230580; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236680236680-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1410C>T (p.Ser470=)6389SDHALikely benign556476038RCV000542300; RCV000542300; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236692236692-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1413C>T (p.Ile471=)6389SDHABenign/Likely benign34779890RCV000562445; RCV000210520; RCV000210520; RCV000437200; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745236695236695-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1418A>C (p.Glu473Ala)6389SDHAUncertain significance-1RCV000698751; RCV000698751; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236700236700-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1419G>A (p.Glu473=)6389SDHALikely benign898003329RCV000575876; RCV000465651; RCV000465651; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236701236701-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1422A>G (p.Ser474=)6389SDHALikely benign201868424RCV000553507; RCV000553507; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236704236704-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1423T>C (p.Cys475Arg)6389SDHAUncertain significance781747137RCV000234575; RCV000234575; RCV000663132; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655236705236705-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1424G>C (p.Cys475Ser)6389SDHAUncertain significance748567636RCV000649405; RCV000649405; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236706236706-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1428G>A (p.Arg476=)6389SDHALikely benign377415114RCV000529616; RCV000529616; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236710236710-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1428G>T (p.Arg476Ser)6389SDHAUncertain significance377415114RCV000541924; RCV000541924; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236710236710-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1429C>T (p.Pro477Ser)6389SDHAUncertain significance770506764RCV000468284; RCV000468284; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236711236711-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1430C>A (p.Pro477His)6389SDHAUncertain significance146990772RCV000649419; RCV000649419; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236712236712-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1430C>T (p.Pro477Leu)6389SDHAUncertain significance-1RCV000696212; RCV000696212; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236712236712-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1432_1432+1delGG6389SDHAPathogenic/Likely pathogenic878854627RCV000567345; RCV000228421; RCV000228421; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236714236715-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1432+1G>C6389SDHALikely pathogenic878854628RCV000230417; RCV000230417; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236715236715-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1432+4A>G6389SDHAUncertain significance1553999798RCV000649399; RCV000649399; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655236718236718-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1432+7G>C6389SDHALikely benign760526397RCV000234401; RCV000234401; RCV000662744; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655236721236721-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1443C>A (p.Val481=)6389SDHALikely benign751871185RCV000649466; RCV000649466; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240483240483-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1450A>G (p.Ile484Val)6389SDHAUncertain significance1224049828RCV000554522; RCV000554522; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240490240490-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1456C>A (p.Pro486Thr)6389SDHAUncertain significance1060503706RCV000462164; RCV000462164; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240496240496-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1456C>T (p.Pro486Ser)6389SDHAUncertain significance1060503706RCV000530424; RCV000530424; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240496240496-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1461C>T (p.Asn487=)6389SDHALikely benign187540602RCV000568309; RCV000462565; RCV000462565; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240501240501-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1462G>A (p.Ala488Thr)6389SDHAUncertain significance369100772RCV000562914; RCV000714730; RCV000468600; RCV000714731; RCV000468600; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240502240502-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1468G>T (p.Glu490Ter)6389SDHAPathogenic1554000360RCV000538564; RCV000538564; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240508240508-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1471G>T (p.Glu491Ter)6389SDHAPathogenic778207102RCV000566587; RCV000555437; RCV000555437; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240511240511-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1472A>C (p.Glu491Ala)6389SDHAUncertain significance754324916RCV000649404; RCV000649404; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240512240512-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1476T>C (p.Ser492=)6389SDHALikely benign1376968004RCV000543040; RCV000543040; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240516240516-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1481T>C (p.Met494Thr)6389SDHAUncertain significance-1RCV000686308; RCV000686308; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240521240521-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1493A>G (p.Lys498Arg)6389SDHAUncertain significance745592653RCV000649413; RCV000649413; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240533240533-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1502T>G (p.Phe501Cys)6389SDHAUncertain significance-1RCV000703345; RCV000703345; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240542240542-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1514G>A (p.Ser505Asn)6389SDHAUncertain significance1060503722RCV000465966; RCV000465966; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240554240554-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1518A>G (p.Ile506Met)6389SDHAUncertain significance-1RCV000691931; RCV000691931; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240558240558-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1522A>T (p.Thr508Ser)6389SDHAUncertain significance1060503718RCV000475110; RCV000475110; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240562240562-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1522A>G (p.Thr508Ala)6389SDHAUncertain significance1060503718RCV000649454; RCV000649454; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240562240562-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1523C>T (p.Thr508Ile)6389SDHALikely benign151266052RCV000563852; RCV000032785; RCV000232220; RCV000232220; RCV000602065; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745240563240563OMIM Allelic Variant:600857.0006C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1524A>G (p.Thr508=)6389SDHALikely benign1356814435RCV000544975; RCV000544975; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240564240564-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1526C>T (p.Ser509Leu)6389SDHAUncertain significance397514541RCV000032786; RCV000695865; RCV000695865; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240566240566OMIM Allelic Variant:600857.0007C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1527G>A (p.Ser509=)6389SDHALikely benign746453879RCV000573305; RCV000473824; RCV000473824; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240567240567-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1532T>C (p.Leu511Pro)6389SDHAUncertain significance375194444RCV000571145; RCV000225792; RCV000225792; RCV000484270; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745240572240572-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1534C>T (p.Arg512Ter)6389SDHAPathogenic/Likely pathogenic748089700RCV000566844; RCV000684799; RCV000411416; RCV000684799; RCV000578965; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:CN5172025240574240574-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1535G>A (p.Arg512Gln)6389SDHAUncertain significance192818312RCV000228640; RCV000228640; RCV000502879; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745240575240575-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1546C>G (p.Gln516Glu)6389SDHAUncertain significance-1RCV000691589; RCV000691589; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240586240586-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1547dup (p.Lys517Glufs)6389SDHAPathogenic1554000378RCV000649407; RCV000649407; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240587240587-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1549A>G (p.Lys517Glu)6389SDHAUncertain significance786205210RCV000170440; RCV000231483; RCV000231483; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240589240589-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1551+4A>G6389SDHAConflicting interpretations of pathogenicity928294715RCV000649432; RCV000649432; RCV000606754; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745240595240595-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1551+6A>G6389SDHAUncertain significance369507726RCV000557246; RCV000557246; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240597240597-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1551+7G>C6389SDHALikely benign760796714RCV000537962; RCV000537962; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240598240598-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1552-3C>T6389SDHAUncertain significance1222778933RCV000649455; RCV000649455; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251104251104-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1567G>T (p.Ala523Ser)6389SDHAUncertain significance1554001820RCV000649393; RCV000649393; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251122251122-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1569T>C (p.Ala523=)6389SDHABenign/Likely benign150192376RCV000566664; RCV000458596; RCV000458596; RCV000445091; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745251124251124-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1571C>T (p.Ala524Val)6389SDHAConflicting interpretations of pathogenicity137852767RCV000009282; RCV000649458; RCV000649458; RCV000520939; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN5172025251126251126OMIM Allelic Variant:600857.0002,UniProtKB (protein):P31040#VAR_016878C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1572C>G (p.Ala524=)6389SDHALikely benign185679709RCV000550313; RCV000550313; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251127251127-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1573G>A (p.Val525Met)6389SDHAUncertain significance979815942RCV000558310; RCV000558310; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251128251128-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1579C>T (p.Arg527Cys)6389SDHAUncertain significance138723511RCV000477361; RCV000477361; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251134251134-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1580G>A (p.Arg527His)6389SDHAUncertain significance766352407RCV000396802; RCV000287976; RCV000461471; RCV000461471; RCV000352061; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005251135251135-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.1585G>C (p.Gly529Arg)6389SDHAUncertain significance370291114RCV000466069; RCV000466069; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251140251140-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1590C>T (p.Ser530=)6389SDHAUncertain significance1060503701RCV000457655; RCV000457655; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251145251145-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1591G>A (p.Val531Met)6389SDHAUncertain significance371056571RCV000573905; RCV000226464; RCV000226464; RCV000410380; RCV000193391; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:CN1693745251146251146-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1597C>G (p.Gln533Glu)6389SDHAUncertain significance149367009RCV000469150; RCV000469150; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251152251152-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1599A>G (p.Gln533=)6389SDHALikely benign1407806818RCV000534189; RCV000534189; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251154251154-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1603G>T (p.Gly535Cys)6389SDHAUncertain significance777622021RCV000551366; RCV000551366; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251158251158-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1611G>A (p.Gly537=)6389SDHALikely benign1060505009RCV000457724; RCV000457724; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251166251166-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1614A>G (p.Lys538=)6389SDHALikely benign1554001847RCV000526113; RCV000526113; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251169251169-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1615dupA (p.Ile539Asnfs)6389SDHAPathogenic1554001843RCV000457642; RCV000457642; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251170251170-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1616T>G (p.Ile539Ser)6389SDHAUncertain significance749219128RCV000538676; RCV000538676; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251171251171-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1623G>A (p.Lys541=)6389SDHABenign/Likely benign35502109RCV000569690; RCV000239362; RCV000239362; RCV000242066; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745251178251178-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1627T>C (p.Tyr543His)6389SDHAUncertain significance1339009840RCV000551034; RCV000551034; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251182251182-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1629T>C (p.Tyr543=)6389SDHALikely benign747249998RCV000569829; RCV000459700; RCV000459700; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251184251184-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1629T>G (p.Tyr543Ter)6389SDHAPathogenic747249998RCV000649408; RCV000649408; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251184251184-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1640A>G (p.Lys547Arg)6389SDHAUncertain significance-1RCV000693477; RCV000693477; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251195251195-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1644C>T (p.His548=)6389SDHALikely benign1126427RCV000463554; RCV000463554; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251199251199-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1648A>C (p.Lys550Gln)6389SDHAUncertain significance-1RCV000697520; RCV000697520; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251203251203-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1652C>T (p.Thr551Met)6389SDHAUncertain significance181238392RCV000569746; RCV000458208; RCV000458208; RCV000662939; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655251207251207-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1653G>A (p.Thr551=)6389SDHALikely benign761927291RCV000565314; RCV000229586; RCV000229586; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251208251208-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1657G>A (p.Asp553Asn)6389SDHAUncertain significance769882609RCV000233573; RCV000233573; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251212251212-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1658A>C (p.Asp553Ala)6389SDHAUncertain significance1060503723RCV000472549; RCV000472549; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251213251213-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1660C>T (p.Arg554Trp)6389SDHAConflicting interpretations of pathogenicity9809219RCV000573113; RCV000009281; RCV000456631; RCV000456631; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251215251215OMIM Allelic Variant:600857.0001,UniProtKB (protein):P31040#VAR_002449C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1661G>A (p.Arg554Gln)6389SDHAConflicting interpretations of pathogenicity376391115RCV000565244; RCV000226282; RCV000226282; RCV000663186; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655251216251216-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1663G>C (p.Gly555Arg)6389SDHAUncertain significance-1RCV000703879; RCV000703879; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251218251218-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1663+1G>T6389SDHAPathogenic/Likely pathogenic766667009RCV000218973; RCV000466792; RCV000466792; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251219251219-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1663+3G>C6389SDHAUncertain significance-1RCV000700223; RCV000700223; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251221251221-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1664-8G>A6389SDHABenign/Likely benign199790689RCV000312438; RCV000205034; RCV000396767; RCV000205034; RCV000367152; RCV000118313; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; Me5251445251445-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.1664-4C>G6389SDHALikely benign774876028RCV000527162; RCV000527162; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251449251449-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1664G>A (p.Gly555Glu)6389SDHAPathogenic137852768RCV000009286; RCV000009284; NMedGen:C3150898,OMIM:613642; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA32085251453251453OMIM Allelic Variant:600857.0004,UniProtKB (protein):P31040#VAR_016879C3150898 613642 Dilated cardiomyopathy 1GG;
NM_004168.3(SDHA):c.1666A>G (p.Met556Val)6389SDHAUncertain significance980397872RCV000539477; RCV000539477; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251455251455-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1674G>T (p.Trp558Cys)6389SDHAUncertain significance-1RCV000705255; RCV000705255; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251463251463-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1679C>T (p.Thr560Met)6389SDHAUncertain significance775350508RCV000649400; RCV000649400; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251468251468-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1680G>A (p.Thr560=)6389SDHABenign/Likely benign1139449RCV000162436; RCV000298674; RCV000398522; RCV000353507; RCV000118314; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745251469251469-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1696C>G (p.Leu566Val)6389SDHAUncertain significance142936520RCV000552092; RCV000552092; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251485251485-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1702C>G (p.Leu568Val)6389SDHAUncertain significance1554001912RCV000527972; RCV000527972; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251491251491-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1708A>T (p.Asn570Tyr)6389SDHAUncertain significance-1RCV000704274; RCV000704274; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251497251497-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1715T>G (p.Met572Arg)6389SDHAUncertain significance1554001925RCV000540559; RCV000540559; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251504251504-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1717C>G (p.Leu573Val)6389SDHAUncertain significance-1RCV000702338; RCV000702338; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251506251506-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1723G>A (p.Ala575Thr)6389SDHAUncertain significance-1RCV000705288; RCV000705288; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251512251512-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1724C>T (p.Ala575Val)6389SDHAUncertain significance750327309RCV000572994; RCV000467983; RCV000467983; RCV000663257; RCV000487393; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; MedGen:CN1693745251513251513-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1725G>A (p.Ala575=)6389SDHALikely benign758252610RCV000561801; RCV000466412; RCV000466412; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251514251514-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1727T>C (p.Leu576Pro)6389SDHAUncertain significance-1RCV000700734; RCV000700734; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251516251516-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1734C>G (p.Thr578=)6389SDHALikely benign748328205RCV000470037; RCV000470037; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251523251523-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1737C>T (p.Ile579=)6389SDHALikely benign201454617RCV000475760; RCV000475760; RCV000611236; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745251526251526-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1738T>C (p.Tyr580His)6389SDHAUncertain significance1042056RCV000649423; RCV000649423; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251527251527-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1740C>T (p.Tyr580=)6389SDHALikely benign3181540RCV000574909; RCV000649487; RCV000649487; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251529251529-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1741G>A (p.Gly581Arg)6389SDHAUncertain significance-1RCV000693056; RCV000693056; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251530251530-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1750G>A (p.Ala584Thr)6389SDHAUncertain significance878854629RCV000230255; RCV000230255; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251539251539-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1751C>T (p.Ala584Val)6389SDHAConflicting interpretations of pathogenicity201068049RCV000564512; RCV000232844; RCV000232844; RCV000419445; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN5172025251540251540-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1752A>G (p.Ala584=)6389SDHABenign/Likely benign13070RCV000162485; RCV000268103; RCV000323384; RCV000359489; RCV000118315; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745251541251541-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1752_1753invAC (p.Arg585Trp)6389SDHAUncertain significance-1RCV000689287; RCV000689287; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251541251542-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1753C>T (p.Arg585Trp)6389SDHAConflicting interpretations of pathogenicity200397144RCV000163558; RCV000464783; RCV000148027; RCV000464783; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655251542251542OMIM Allelic Variant:600857.0009C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1754G>A (p.Arg585Gln)6389SDHAUncertain significance752360961RCV000227812; RCV000227812; RCV000410930; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655251543251543-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1759G>A (p.Glu587Lys)6389SDHAUncertain significance1554001954RCV000649395; RCV000649395; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251548251548-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1765C>T (p.Arg589Trp)6389SDHAConflicting interpretations of pathogenicity387906780RCV000564186; RCV000554026; RCV000023042; RCV000554026; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655251554251554OMIM Allelic Variant:600857.0005,UniProtKB (protein):P31040#VAR_065975C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1766G>A (p.Arg589Gln)6389SDHAUncertain significance763766162RCV000467377; RCV000467377; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251555251555-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1769delG (p.Gly590Alafs)6389SDHAUncertain significance1554001958RCV000530189; RCV000530189; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251558251558-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1770C>T (p.Gly590=)6389SDHAUncertain significance142457602RCV000547065; RCV000547065; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251559251559-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1771G>A (p.Ala591Thr)6389SDHAUncertain significance1042170RCV000460826; RCV000460826; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251560251560-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1772C>T (p.Ala591Val)6389SDHAUncertain significance367621815RCV000555083; RCV000555083; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251561251561-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1773G>C (p.Ala591=)6389SDHALikely benign555028212RCV000463453; RCV000463453; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251562251562-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1773G>A (p.Ala591=)6389SDHALikely benign555028212RCV000530893; RCV000530893; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251562251562-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1773_1774dup (p.His592Argfs)6389SDHAUncertain significance-1RCV000691877; RCV000691877; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251562251563-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1775A>G (p.His592Arg)6389SDHAUncertain significance1554001966RCV000543362; RCV000543362; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251564251564-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1776T>C (p.His592=)6389SDHABenign/Likely benign1126538RCV000130494; RCV000383884; RCV000205292; RCV000329216; RCV000205292; RCV000264789; RCV000243217; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005251565251565-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1776T>G (p.His592Gln)6389SDHAUncertain significance-1RCV000699883; RCV000699883; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251565251565-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1782G>A (p.Arg594=)6389SDHALikely benign751329013RCV000649465; RCV000649465; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251571251571-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1787A>G (p.Asp596Gly)6389SDHAUncertain significance1126557RCV000562151; RCV000560589; RCV000560589; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251576251576-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1789T>C (p.Tyr597His)6389SDHAUncertain significance1060503721RCV000469710; RCV000469710; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251578251578-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1794G>A (p.Lys598=)6389SDHAUncertain significance1554001975RCV000536643; RCV000536643; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251583251583-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1794+3G>C6389SDHAUncertain significance375883981RCV000222853; RCV000230640; RCV000230640; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251586251586-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1794+3G>A6389SDHAUncertain significance375883981RCV000649437; RCV000649437; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251586251586-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1794+8T>A6389SDHALikely benign1050394308RCV000460313; RCV000460313; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251591251591-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1794+8T>G6389SDHALikely benign1050394308RCV000649471; RCV000649471; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251591251591-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1794+10C>T6389SDHALikely benign1060505010RCV000456309; RCV000456309; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655251593251593-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1797G>A (p.Val599=)6389SDHALikely benign1060505012RCV000470901; RCV000470901; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254510254510-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1798C>T (p.Arg600Trp)6389SDHAUncertain significance878854630RCV000233512; RCV000233512; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254511254511-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1806T>C (p.Asp602=)6389SDHALikely benign1554002427RCV000543136; RCV000543136; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254519254519-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1812C>T (p.Tyr604=)6389SDHALikely benign1436919553RCV000649469; RCV000649469; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254525254525-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1813G>A (p.Asp605Asn)6389SDHAUncertain significance771593214RCV000649401; RCV000649401; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254526254526-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1813G>C (p.Asp605His)6389SDHAUncertain significance771593214RCV000649442; RCV000649442; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254526254526-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1827C>A (p.Pro609=)6389SDHALikely benign1060505006RCV000474438; RCV000474438; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254540254540-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1828A>G (p.Ile610Val)6389SDHAUncertain significance1554002446RCV000649412; RCV000649412; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254541254541-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1835G>A (p.Gly612Glu)6389SDHAUncertain significance1057523336RCV000696172; RCV000696172; RCV000424508; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745254548254548-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1849C>T (p.Pro617Ser)6389SDHAUncertain significance1199988395RCV000560099; RCV000560099; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254562254562-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1857G>A (p.Glu619=)6389SDHALikely benign1247081812RCV000536406; RCV000536406; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254570254570-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1863C>G (p.His621Gln)6389SDHAUncertain significance1554002478RCV000548911; RCV000548911; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254576254576-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1873C>T (p.His625Tyr)6389SDHAUncertain significance1554002483RCV000524624; RCV000524624; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254586254586-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1885dup (p.Tyr629Leufs)6389SDHAUncertain significance750865703RCV000537063; RCV000537063; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254598254598-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1886A>T (p.Tyr629Phe)6389SDHABenign/Likely benign6960RCV000492773; RCV000389777; RCV000210491; RCV000270762; RCV000210491; RCV000325852; RCV000243534; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005254599254599UniProtKB (protein):P31040#VAR_071037C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1886A>C (p.Tyr629Ser)6389SDHAUncertain significance6960RCV000649426; RCV000649426; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254599254599-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1889T>C (p.Val630Ala)6389SDHAUncertain significance-1RCV000705910; RCV000705910; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254602254602-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1893C>T (p.Asp631=)6389SDHALikely benign1364764796RCV000649482; RCV000649482; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254606254606-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1894G>A (p.Val632Ile)6389SDHAUncertain significance369639811RCV000525826; RCV000525826; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254607254607-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1894G>T (p.Val632Phe)6389SDHAUncertain significance369639811RCV000575685; RCV000539102; RCV000539102; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254607254607-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1900A>G (p.Thr634Ala)6389SDHAUncertain significance1017441235RCV000465027; RCV000465027; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254613254613-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1908+6T>C6389SDHAUncertain significance1359050908RCV000527847; RCV000527847; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254627254627-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1908+9G>A6389SDHALikely benign767578208RCV000540014; RCV000540014; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655254630254630-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1908+15C>T6389SDHABenign/Likely benign34504623RCV000385355; RCV000294605; RCV000349503; RCV000249299; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745254636254636-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.1909-12_1909-11delCT6389SDHAConflicting interpretations of pathogenicity372662724RCV000492532; RCV000337728; RCV000281629; RCV000394391; RCV000483037; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745256437256438-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1909-2A>G6389SDHAConflicting interpretations of pathogenicity747939816RCV000565006; RCV000692849; RCV000692849; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256447256447-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1911C>T (p.Val637=)6389SDHABenign/Likely benign11557098RCV000564874; RCV000343504; RCV000210496; RCV000402055; RCV000210496; RCV000298002; RCV000426571; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005256451256451-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1913delC (p.Thr638Ilefs)6389SDHAUncertain significance1554002857RCV000649411; RCV000649411; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256453256453-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1915C>G (p.Leu639Val)6389SDHAUncertain significance1126697RCV000563708; RCV000552499; RCV000552499; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256455256455-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1919A>G (p.Glu640Gly)6389SDHAUncertain significance372480044RCV000574591; RCV000239361; RCV000239361; RCV000663177; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655256459256459-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1923T>C (p.Tyr641=)6389SDHALikely benign1444319863RCV000571470; RCV000533337; RCV000533337; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256463256463-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1926A>G (p.Arg642=)6389SDHALikely benign1554002873RCV000545820; RCV000545820; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256466256466-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1928C>G (p.Pro643Arg)6389SDHAUncertain significance1060503717RCV000459590; RCV000459590; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256468256468-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1929C>T (p.Pro643=)6389SDHALikely benign761201589RCV000562383; RCV000552289; RCV000552289; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256469256469-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1930G>A (p.Val644Met)6389SDHAUncertain significance3211483RCV000475448; RCV000475448; RCV000662992; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655256470256470-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1932G>A (p.Val644=)6389SDHABenign/Likely benign6961RCV000162483; RCV000273207; RCV000358445; RCV000303618; RCV000118316; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745256472256472-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1934T>C (p.Ile645Thr)6389SDHAUncertain significance-1RCV000685210; RCV000685210; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256474256474-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1935C>T (p.Ile645=)6389SDHALikely benign762128553RCV000532848; RCV000532848; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256475256475-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1935C>G (p.Ile645Met)6389SDHAUncertain significance-1RCV000693481; RCV000693481; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256475256475-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1936G>A (p.Asp646Asn)6389SDHAUncertain significance-1RCV000686417; RCV000686417; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256476256476-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1942A>C (p.Thr648Pro)6389SDHAUncertain significance758054627RCV000570413; RCV000460218; RCV000460218; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256482256482-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1943C>G (p.Thr648Ser)6389SDHAUncertain significance1420345359RCV000545606; RCV000545606; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256483256483-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1950C>T (p.Asn650=)6389SDHALikely benign1042430RCV000473028; RCV000473028; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256490256490-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1951G>A (p.Glu651Lys)6389SDHAUncertain significance375396913RCV000204436; RCV000204436; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256491256491-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1951delG (p.Glu651Argfs)6389SDHAUncertain significance-1RCV000698069; RCV000698069; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256491256491-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1955C>T (p.Ala652Val)6389SDHAUncertain significance1554002888RCV000566977; RCV000688050; RCV000688050; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256495256495-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1960T>G (p.Cys654Gly)6389SDHAUncertain significance60587941RCV000649402; RCV000649402; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256500256500-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1961G>C (p.Cys654Ser)6389SDHAUncertain significance1554002895RCV000649429; RCV000649429; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256501256501-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1968C>T (p.Thr656=)6389SDHALikely benign3211499RCV000557985; RCV000557985; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256508256508-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1969G>A (p.Val657Ile)6389SDHABenign/Likely benign6962RCV000162484; RCV000309260; RCV000269248; RCV000363917; RCV000118317; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745256509256509UniProtKB (protein):P31040#VAR_049217C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1971C>T (p.Val657=)6389SDHALikely benign746083858RCV000573225; RCV000463658; RCV000463658; RCV000615882; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745256511256511-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1973C>T (p.Pro658Leu)6389SDHAUncertain significance377632619RCV000217918; RCV000388419; RCV000275247; RCV000649461; RCV000649461; RCV000333745; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005256513256513-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1974G>C (p.Pro658=)6389SDHALikely benign1042446RCV000568815; RCV000239372; RCV000239372; RCV000427231; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:CN1693745256514256514-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1974G>A (p.Pro658=)6389SDHALikely benign1042446RCV000565278; RCV000533769; RCV000533769; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256514256514-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1978G>A (p.Ala660Thr)6389SDHAUncertain significance1554002911RCV000649433; RCV000649433; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256518256518-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1979C>G (p.Ala660Gly)6389SDHAConflicting interpretations of pathogenicity191412461RCV000563763; RCV000227636; RCV000227636; RCV000409751; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:6141655256519256519-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1988C>T (p.Ser663Phe)6389SDHAUncertain significance1060503719RCV000574185; RCV000477211; RCV000477211; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256528256528-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1989C>T (p.Ser663=)6389SDHALikely benign1554002913RCV000649464; RCV000649464; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655256529256529-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.*75A>G6389SDHAUncertain significance886060517RCV000375689; RCV000330444; RCV000279520; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005256610256610-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.*133G>C6389SDHAUncertain significance193112615RCV000285270; RCV000379866; RCV000334630; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005256668256668-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.*189C>T6389SDHAUncertain significance185107377RCV000340216; RCV000309761; RCV000396725; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005256724256724-C0023264 256000 Leigh syndrome;
NM_001042631.2(SDHAF1):c.-64C>G644096SDHAF1Uncertain significance886054354RCV000350401; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208193648611336486113-C1855008 252011 Mitochondrial complex II deficiency;
NM_001042631.2(SDHAF1):c.164G>C (p.Arg55Pro)644096SDHAF1Pathogenic137853193RCV000000458; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208193648634036486340OMIM Allelic Variant:612848.0002,UniProtKB (protein):A6NFY7#VAR_058097C1855008 252011 Mitochondrial complex II deficiency;
NM_001042631.2(SDHAF1):c.169G>C (p.Gly57Arg)644096SDHAF1Pathogenic137853192RCV000000457; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208193648634536486345OMIM Allelic Variant:612848.0001,UniProtKB (protein):A6NFY7#VAR_058098C1855008 252011 Mitochondrial complex II deficiency;
NM_001042631.2(SDHAF1):c.333C>G (p.Arg111=)644096SDHAF1Benign/Likely benign76336581RCV000403258; RCV000676630; RCV000173197; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:CN517202; MedGen:CN169374193648650936486509-C1855008 252011 Mitochondrial complex II deficiency;
NM_001042631.2(SDHAF1):c.*156G>T644096SDHAF1Likely benign115204084RCV000301279; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208193648668036486680-C1855008 252011 Mitochondrial complex II deficiency;
NM_001042631.2(SDHAF1):c.*329G>C644096SDHAF1Uncertain significance886054355RCV000356291; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208193648685336486853-C1855008 252011 Mitochondrial complex II deficiency;
NM_001042631.2(SDHAF1):c.*622A>G644096SDHAF1Likely benign7925RCV000261418; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208193648714636487146-C1855008 252011 Mitochondrial complex II deficiency;
NM_001042631.2(SDHAF1):c.*682A>T644096SDHAF1Uncertain significance554739627RCV000298005; NMedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208193648720636487206-C1855008 252011 Mitochondrial complex II deficiency;
NM_003002.3(SDHD):c.205G>A (p.Glu69Lys)6392SDHDConflicting interpretations of pathogenicity202198133RCV000696706; RCV000144171; RCV000696706; RCV000696706; RCV000696706; RCV000484125; NMedGen:C3554516; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1847319,OMIM:606864, Orphanet:ORPHA97286; MedGen:C1868633,OMIM:168000; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN51720211111959626111959626OMIM Allelic Variant:602690.0029,UniProtKB (protein):O14521#VAR_074105C3554516 Cowden syndrome 3;
NM_003002.3(SDHD):c.275A>G (p.Asp92Gly)6392SDHDPathogenic786205436RCV000171136; RCV000186596; NMedGen:C3532243; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA320811111959696111959696OMIM Allelic Variant:602690.0031,UniProtKB (protein):O14521#VAR_074106C3532243 Fatal infantile mitochondrial cardiomyopathy;
NM_003002.3(SDHD):c.479G>T (p.Ter160Leu)6392SDHDUncertain significance201372601RCV000476218; RCV000505355; RCV000144172; RCV000476218; RCV000476218; RCV000476218; RCV000454533; NMedGen:C3554516; MedGen:C1708353, Orphanet:ORPHA29072; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1847319,OMIM:606864, Orphanet:ORPHA97286; MedGen:C1868633,OMIM:168000; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693711111965693111965693OMIM Allelic Variant:602690.0030C3554516 Cowden syndrome 3;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000073578 MSeqDR Search EnsemblSDHA13567succinate dehydrogenase complex, subunit A, flavoprotein (Fp) [Source:HGNC Symbol;Acc:10680]00016
ENSG00000205138 MSeqDR Search EnsemblSDHAF1128succinate dehydrogenase complex assembly factor 1 [Source:HGNC Symbol;Acc:33867]00016
ENSG00000204370 MSeqDR Search EnsemblSDHD103succinate dehydrogenase complex, subunit D, integral membrane protein [Source:HGNC Symbol;Acc:10683]00016

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