MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Metabolism, Inborn Errors (D008661)
Parent Node:
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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)
..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)
..expandENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)  LSDB  L: 00014;
..expandENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)  LSDB  L: 00525;
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)
..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;
..expandLIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
..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: 00018; 00019; 00020; 00021; 00022; 00507; 00508; 00528;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)  LSDB  L: 00024;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)  LSDB  L: 00025;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)  LSDB  L: 00010;
..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, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)  LSDB  L: 00041;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00013; 00043; 00530;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1 L: 00035;
..expandNoninsulin-dependent diabetes mellitus with deafness (C536246)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)  LSDB  L: 00170;
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..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)
..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:8083
Name:Mitochondrial Complex II Deficiency
Definition:
Alternative IDs:DO:DOID:0060537|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:0030682Left ventricular noncompaction
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 benign2303741RCV000313041|RCV000338764|RCV000400671; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:290725218356218356NC_000005.9:g.218356T>CClinGen:CA10624324C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-84dup6389SDHALikely benign35805262RCV000307350|RCV000370159|RCV000399941; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085218381218382NC_000005.9:g.218387dupClinGen:CA10621606C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-63G>A6389SDHAUncertain significance886060513RCV000272151|RCV000329506|RCV000364389; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:290725218408218408NC_000005.9:g.218408G>AClinGen:CA10621607C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.-7A>C6389SDHAConflicting interpretations of pathogenicity751633537RCV000411889|RCV000425129|RCV000649475|RCV000756629|RCV001151933|RCV001151931|RCV001151932|RCV002255377; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C002325218464218464NC_000005.9:g.218464A>CClinGen:CA3172666C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.-4A>G6389SDHABenign/Likely benign377134185RCV000251091|RCV000266213|RCV000358590|RCV000323529|RCV000572973; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140165218467218467NC_000005.9:g.218467A>GClinGen:CA3172670C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.-2A>T6389SDHAConflicting interpretations of pathogenicity763680697RCV000564955|RCV001153196|RCV001151934|RCV001153197|RCV003139877; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MedGen:C36619052184692184695:g.218469A>TClinGen:CA3172671C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.-1C>T6389SDHAConflicting interpretations of pathogenicity560932680RCV000279041|RCV000317717|RCV000380480|RCV001013984|RCV003137969; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661905218470218470NC_000005.9:g.218470C>TClinGen:CA3172673C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.1A>C (p.Met1Leu)6389SDHAPathogenic1061517RCV000009283|RCV001233940|RCV002415407|RCV003450622|RCV003234897; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|M52184712184715:g.218471A>CClinGen:CA119881,OMIM:600857.0003C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1A>G (p.Met1Val)6389SDHAPathogenic/Likely pathogenic1061517RCV000230468|RCV000567727|RCV000579224|RCV000656497; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:6141655218471218471NC_000005.9:g.218471A>GClinGen:CA3172674C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)6389SDHAPathogenic/Likely pathogenic1061517RCV000410820|RCV001041479|RCV002418229|RCV003237835; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|5218471218471NC_000005.9:g.218471A>TClinGen:CA16042099C3279992 614165 Paragangliomas 5;
NM_004168.4(SDHA):c.1del (p.Met1fs)6389SDHAPathogenic1085307796RCV000490141|RCV001046092; NMedGen:CN517202|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218471218471NC_000005.9:g.218471delClinGen:CA645293865
NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer)6389SDHAUncertain significance-1RCV003040638; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218471218472NC_000005.9:g.218477_218494dup-
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)6389SDHAPathogenic/Likely pathogenic750380279RCV000462474|RCV000662887|RCV001017951; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218472218472NC_000005.9:g.218472T>CClinGen:CA16611812C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)6389SDHAPathogenic/Likely pathogenic750380279RCV000478025|RCV000649438|RCV001257552|RCV002438178|RCV002506172; NMedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412, Orphanet:780|MONDO:MONDO:0052184722184725:g.218472T>GClinGen:CA16618195C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.2T>A (p.Met1Lys)6389SDHAPathogenic750380279RCV000706101|RCV002440542|RCV003148837; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252184722184725:g.218472T>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.3G>C (p.Met1Ile)6389SDHAPathogenic2126522051RCV001962939; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085218473218473218473-
NM_004168.4(SDHA):c.3G>T (p.Met1Ile)6389SDHAPathogenic2126522051RCV001930243|RCV003167128; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218473218473218473-
NM_004168.4(SDHA):c.4T>C (p.Ser2Pro)6389SDHAUncertain significance758327622RCV001954520; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085218474218474218474-
NM_004168.4(SDHA):c.4T>G (p.Ser2Ala)6389SDHAUncertain significance758327622RCV001902064; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218474218474218474-
NM_004168.4(SDHA):c.5dup (p.Val4fs)6389SDHAPathogenic-1RCV002357983|RCV003098098; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218474218475218474-
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)6389SDHAConflicting interpretations of pathogenicity780064103RCV000473246|RCV000569083|RCV001153199|RCV001153200|RCV001153198|RCV003225073; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MO5218475218475NC_000005.9:g.218475C>TClinGen:CA3172677C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.5C>A (p.Ser2Ter)6389SDHAPathogenic780064103RCV000797937; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252184752184755:g.218475C>A-
NM_004168.4(SDHA):c.6G>A (p.Ser2=)6389SDHALikely benign751383247RCV000976847|RCV002363492; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252184762184765:g.218476G>A-
NM_004168.4(SDHA):c.6G>C (p.Ser2=)6389SDHALikely benign751383247RCV001025905|RCV001446069; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852184762184765:g.218476G>C-
NM_004168.4(SDHA):c.6G>T (p.Ser2=)6389SDHALikely benign751383247RCV001025906|RCV002069027; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852184762184765:g.218476G>T-
NM_004168.4(SDHA):c.7G>C (p.Gly3Arg)6389SDHAUncertain significance756415935RCV001064968|RCV002418534; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252184772184775:g.218477G>C-
NM_004168.4(SDHA):c.7G>T (p.Gly3Trp)6389SDHAUncertain significance756415935RCV001350608; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218477218477218477-
NM_004168.4(SDHA):c.8G>C (p.Gly3Ala)6389SDHAUncertain significance1398198098RCV000703530|RCV002369948; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252184782184785:g.218478G>C-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.9G>T (p.Gly3=)6389SDHALikely benign1252447154RCV000570635|RCV000873441; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252184792184795:g.218479G>TClinGen:CA442689528C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.9G>C (p.Gly3=)6389SDHALikely benign1252447154RCV001462291|RCV003160874; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218479218479218479-
NM_004168.4(SDHA):c.9G>A (p.Gly3=)6389SDHALikely benign-1RCV002383152|RCV003094918; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085218479218479-
NM_004168.4(SDHA):c.10G>T (p.Val4Phe)6389SDHAUncertain significance778069799RCV001017300|RCV001873289; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252184802184805:g.218480G>T-
NM_004168.4(SDHA):c.10G>A (p.Val4Ile)6389SDHAUncertain significance778069799RCV001243739|RCV002430036|RCV003473824; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452184802184805:g.218480G>A-
NM_004168.4(SDHA):c.12C>T (p.Val4=)6389SDHALikely benign749406988RCV000468506|RCV002383905; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218482218482NC_000005.9:g.218482C>TClinGen:CA3172681C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp)6389SDHAUncertain significance770866830RCV000473159|RCV001011369|RCV002506135|RCV003226934; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; 5218483218483NC_000005.9:g.218483C>TClinGen:CA16612037C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.13C>G (p.Arg5Gly)6389SDHAUncertain significance770866830RCV001241674|RCV002393625; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252184832184835:g.218483C>G-
NM_004168.4(SDHA):c.13C>A (p.Arg5=)6389SDHALikely benign770866830RCV001464905|RCV002396097; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218483218483218483-
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln)6389SDHAUncertain significance779027774RCV000691271|RCV002388232|RCV002499232; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; 5218484218484NC_000005.9:g.218484G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.15G>A (p.Arg5=)6389SDHALikely benign1260744894RCV002190206; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218485218485218485-
NM_004168.4(SDHA):c.16G>A (p.Gly6Ser)6389SDHAUncertain significance1352756438RCV001220326; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252184862184865:g.218486G>A-
NM_004168.4(SDHA):c.16G>C (p.Gly6Arg)6389SDHAConflicting interpretations of pathogenicity1352756438RCV001893473|RCV002397867; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218486218486218486-
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)6389SDHAConflicting interpretations of pathogenicity187964306RCV000216190|RCV000224380|RCV000282383|RCV000374489|RCV000411625|RCV000349064|RCV000573807|RCV001080211; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:25605218487218487NC_000005.9:g.218487G>AClinGen:CA358571C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.17G>C (p.Gly6Ala)6389SDHAConflicting interpretations of pathogenicity187964306RCV001068961|RCV002411605; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252184872184875:g.218487G>C-
NM_004168.4(SDHA):c.17G>T (p.Gly6Val)6389SDHAUncertain significance187964306RCV001053064|RCV002409443; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252184872184875:g.218487G>T-
NM_004168.4(SDHA):c.17_18insA (p.Leu7fs)6389SDHAPathogenic-1RCV002881583; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218487218488NC_000005.9:g.218487_218488insA-
NM_004168.4(SDHA):c.18C>A (p.Gly6=)6389SDHALikely benign775847689RCV000556103|RCV002413608; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218488218488NC_000005.9:g.218488C>AClinGen:CA442689535C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.18C>T (p.Gly6=)6389SDHALikely benign775847689RCV000701813|RCV001013607; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218488218488NC_000005.9:g.218488C>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.19C>T (p.Leu7=)6389SDHALikely benign760964443RCV000943379|RCV001013999; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252184892184895:g.218489C>T-
NM_004168.4(SDHA):c.19C>G (p.Leu7Val)6389SDHAUncertain significance760964443RCV001039293; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852184892184895:g.218489C>G-
NM_004168.4(SDHA):c.20T>C (p.Leu7Pro)6389SDHAUncertain significance1734500083RCV001216867|RCV002418744; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252184902184905:g.218490T>C-
NM_004168.4(SDHA):c.22T>C (p.Ser8Pro)6389SDHAUncertain significance768328967RCV001041680; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852184922184925:g.218492T>C-
NM_004168.4(SDHA):c.23C>G (p.Ser8Trp)6389SDHAUncertain significance878854631RCV000228753|RCV001762532|RCV002444900|RCV003475075; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:61364252184932184935:g.218493C>GClinGen:CA10582417C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.23C>T (p.Ser8Leu)6389SDHAUncertain significance878854631RCV001970237|RCV003339859; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218493218493218493-
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter)6389SDHAPathogenic878854631RCV001993135|RCV003303493; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218493218493218493-
NM_004168.4(SDHA):c.24G>C (p.Ser8=)6389SDHALikely benign1060505007RCV000573332|RCV001429572; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218494218494NC_000005.9:g.218494G>CClinGen:CA16611815C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.25C>G (p.Arg9Gly)6389SDHAUncertain significance776218604RCV000649459|RCV003303065; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218495218495NC_000005.9:g.218495C>GClinGen:CA359007301C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.25C>T (p.Arg9Trp)6389SDHAUncertain significance776218604RCV001225154; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252184952184955:g.218495C>T-
NM_004168.4(SDHA):c.26G>A (p.Arg9Gln)6389SDHAUncertain significance761508577RCV000691725; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218496218496NC_000005.9:g.218496G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.26G>T (p.Arg9Leu)6389SDHAUncertain significance761508577RCV001041332; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852184962184965:g.218496G>T-
NM_004168.4(SDHA):c.27G>A (p.Arg9=)6389SDHALikely benign2126522501RCV002112961|RCV002434494; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218497218497218497-
NM_004168.4(SDHA):c.28del (p.Leu10fs)6389SDHAPathogenic1579369841RCV000810724; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252184982184985:g.218498_218498del-
NM_004168.4(SDHA):c.28C>T (p.Leu10=)6389SDHALikely benign879099314RCV001452779; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218498218498218498-
NM_004168.4(SDHA):c.29T>C (p.Leu10Pro)6389SDHAUncertain significance2126522536RCV001901686; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218499218499218499-
NM_004168.4(SDHA):c.32T>A (p.Leu11Gln)6389SDHAUncertain significance1139422RCV001054132; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852185022185025:g.218502T>A-
NM_004168.4(SDHA):c.33G>T (p.Leu11=)6389SDHALikely benign1139423RCV002169794|RCV002454347; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218503218503218503-
NM_004168.4(SDHA):c.34A>G (p.Ser12Gly)6389SDHAUncertain significance1734501874RCV001213050|RCV002451462; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252185042185045:g.218504A>G-
NM_004168.4(SDHA):c.36C>A (p.Ser12Arg)6389SDHAUncertain significance1734502045RCV001036917; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852185062185065:g.218506C>A-
NM_004168.4(SDHA):c.39T>C (p.Ala13=)6389SDHALikely benign2126522607RCV001417596|RCV003298700; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218509218509218509-
NM_004168.4(SDHA):c.40C>A (p.Arg14=)6389SDHALikely benign1192077362RCV000549482|RCV001021865; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218510218510NC_000005.9:g.218510C>AClinGen:CA442689557C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)6389SDHAPathogenic/Likely pathogenic1560980939RCV000696009|RCV003128647; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN51720252185102185115:g.218510_218511insGGCGCCT-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp)6389SDHAUncertain significance1192077362RCV001221686|RCV002322073|RCV002484205; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M52185102185105:g.218510C>T-
NM_004168.4(SDHA):c.40C>G (p.Arg14Gly)6389SDHAUncertain significance1192077362RCV001248215|RCV002322164; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252185102185105:g.218510C>G-
NM_004168.4(SDHA):c.44G>C (p.Arg15Pro)6389SDHAUncertain significance1060503707RCV000470530|RCV002255398; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218514218514NC_000005.9:g.218514G>CClinGen:CA16611820C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.44G>T (p.Arg15Leu)6389SDHAUncertain significance-1RCV002305344; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218514218514218514-
NM_004168.4(SDHA):c.45C>T (p.Arg15=)6389SDHALikely benign1060505002RCV001478123|RCV002341121; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218515218515NC_000005.9:g.218515C>TClinGen:CA16612038C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.46C>T (p.Leu16=)6389SDHALikely benign1579369903RCV000921727; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252185162185165:g.218516C>T-
NM_004168.4(SDHA):c.48G>A (p.Leu16=)6389SDHALikely benign2126522691RCV002040196; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218518218518218518-
NM_004168.4(SDHA):c.48G>C (p.Leu16=)6389SDHALikely benign2126522691RCV002139955|RCV002337357; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218518218518218518-
NM_004168.4(SDHA):c.49G>A (p.Ala17Thr)6389SDHAUncertain significance-1RCV002592748; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218519218519NC_000005.9:g.218519G>A-
NM_004168.4(SDHA):c.51G>A (p.Ala17=)6389SDHALikely benign764698195RCV001023712|RCV001082535|RCV002501254; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259; MONDO:MONDO:00152185212185215:g.218521G>A-
NM_004168.4(SDHA):c.52C>G (p.Leu18Val)6389SDHAUncertain significance1553996372RCV000572314|RCV001204645; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252185222185225:g.218522C>GClinGen:CA359007420C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.53T>A (p.Leu18Gln)6389SDHAUncertain significance-1RCV002615182; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218523218523NC_000005.9:g.218523T>A-
NM_004168.4(SDHA):c.54G>T (p.Leu18=)6389SDHALikely benign-1RCV003098967; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218524218524-
NM_004168.4(SDHA):c.55G>A (p.Ala19Thr)6389SDHAConflicting interpretations of pathogenicity1560980986RCV000696776|RCV002343493; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252185252185255:g.218525G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.56C>G (p.Ala19Gly)6389SDHAUncertain significance2126522773RCV002030327; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218526218526218526-
NM_004168.4(SDHA):c.57C>G (p.Ala19=)6389SDHALikely benign749948037RCV000842001|RCV001024546|RCV001084132; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218527218527NC_000005.9:g.218527C>GClinGen:CA3172691C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.58A>G (p.Lys20Glu)6389SDHAUncertain significance1734504263RCV001298669|RCV002357093; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218528218528218528-
NM_004168.4(SDHA):c.60G>T (p.Lys20Asn)6389SDHAUncertain significance-1RCV002943742|RCV003308370; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625218530218530NC_000005.9:g.218530G>T-
NM_004168.4(SDHA):c.60G>A (p.Lys20=)6389SDHALikely benign-1RCV002953545; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218530218530-
NM_004168.4(SDHA):c.61G>A (p.Ala21Thr)6389SDHAUncertain significance1553996375RCV000556549; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085218531218531NC_000005.9:g.218531G>AClinGen:CA359007466C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.62C>T (p.Ala21Val)6389SDHAUncertain significance2126522821RCV001884830; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085218532218532218532-
NM_004168.4(SDHA):c.62C>A (p.Ala21Glu)6389SDHAUncertain significance2126522821RCV002005224; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085218532218532218532-
NM_004168.4(SDHA):c.63G>A (p.Ala21=)6389SDHAUncertain significance587781942RCV000130309|RCV001304201; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252185332185335:g.218533G>AClinGen:CA166153C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.63G>T (p.Ala21=)6389SDHAConflicting interpretations of pathogenicity587781942RCV001025228|RCV001350507; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852185332185335:g.218533G>T-
NM_004168.4(SDHA):c.63+2del6389SDHALikely pathogenic1579369969RCV000810130|RCV003166289; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252185352185355:g.218535_218535del-
NM_004168.4(SDHA):c.63+3del6389SDHAUncertain significance1734505446RCV001306930|RCV003473853; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545218536218536218535-
NM_004168.4(SDHA):c.63+4A>G6389SDHAUncertain significance-1RCV002937422; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218537218537NC_000005.9:g.218537A>G-
NM_004168.4(SDHA):c.63+7C>A6389SDHAUncertain significance-1RCV002811695; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218540218540NC_000005.9:g.218540C>A-
NM_004168.4(SDHA):c.63+8C>T6389SDHALikely benign766358430RCV000227123|RCV003437021; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C366190052185412185415:g.218541C>TClinGen:CA3172693C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.63+8C>A6389SDHALikely benign766358430RCV001416091; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218541218541218541-
NM_004168.4(SDHA):c.63+9G>A6389SDHALikely benign751401688RCV001487956; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218542218542218542-
NM_004168.4(SDHA):c.63+10T>C6389SDHALikely benign2126522948RCV002122156; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218543218543218543-
NM_004168.4(SDHA):c.63+10T>G6389SDHALikely benign-1RCV002710981; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218543218543NC_000005.9:g.218543T>G-
NM_004168.4(SDHA):c.63+13C>G6389SDHALikely benign-1RCV003073033; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218546218546NC_000005.9:g.218546C>G-
NM_004168.4(SDHA):c.63+14G>A6389SDHALikely benign2126522961RCV002088131; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085218547218547218547-
NM_004168.4(SDHA):c.63+16G>C6389SDHALikely benign1252759825RCV002170220; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218549218549218549-
NM_004168.4(SDHA):c.63+18A>G6389SDHALikely benign2126522991RCV002213285; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218551218551218551-
NM_004168.4(SDHA):c.63+19C>A6389SDHALikely benign1553996384RCV000601436|RCV002063079; NMedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252185522185525:g.218552C>AClinGen:CA658796482CN169374 not specified;
NM_004168.4(SDHA):c.63+20C>T6389SDHALikely benign1734507324RCV002199683; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725218553218553218553-
NM_004168.4(SDHA):c.64-13_64-5del6389SDHALikely benign1382759501RCV002179809; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223575223583223574-
NM_004168.4(SDHA):c.64-19G>A6389SDHALikely benign1490248268RCV002108542; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223578223578223578-
NM_004168.4(SDHA):c.64-17G>A6389SDHALikely benign-1RCV003047990; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223580223580NC_000005.9:g.223580G>A-
NM_004168.4(SDHA):c.64-15C>T6389SDHALikely benign1388748464RCV002217907; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223582223582223582-
NM_004168.4(SDHA):c.64-13T>G6389SDHALikely benign2126539312RCV002195305; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085223584223584223584-
NM_004168.4(SDHA):c.64-12C>T6389SDHALikely benign769476810RCV002215344; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085223585223585223585-
NM_004168.4(SDHA):c.64-11T>C6389SDHALikely benign2126539331RCV001994610; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223586223586223586-
NM_004168.4(SDHA):c.64-10G>A6389SDHALikely benign1553997159RCV000649470; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252235872235875:g.223587G>AClinGen:CA658796483C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.64-10G>C6389SDHALikely benign1553997159RCV001411778; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223587223587223587-
NM_004168.4(SDHA):c.64-7T>C6389SDHALikely benign1579379588RCV001476978; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852235902235905:g.223590T>C-
NM_004168.4(SDHA):c.64-7T>G6389SDHAUncertain significance1579379588RCV001298651; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223590223590223590-
NM_004168.4(SDHA):c.64-4C>T6389SDHALikely benign-1RCV002589961; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223593223593NC_000005.9:g.223593C>T-
NM_004168.4(SDHA):c.64-3C>T6389SDHAUncertain significance772607568RCV000216659|RCV000533456; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852235942235945:g.223594C>TClinGen:CA3172711C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.64-2A>G6389SDHAPathogenic/Likely pathogenic762456298RCV001036409|RCV001528244|RCV002363550; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252235952235955:g.223595A>G-
NM_004168.4(SDHA):c.64-2A>C6389SDHALikely pathogenic-1RCV002628429; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223595223595NC_000005.9:g.223595A>C-
NM_004168.4(SDHA):c.64T>C (p.Trp22Arg)6389SDHAUncertain significance2126539375RCV002033210; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223597223597223597-
NM_004168.4(SDHA):c.65G>A (p.Trp22Ter)6389SDHAPathogenic2126539382RCV001946937; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223598223598223598-
NM_004168.4(SDHA):c.70A>G (p.Thr24Ala)6389SDHAConflicting interpretations of pathogenicity1579379632RCV000816218|RCV003166352; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252236032236035:g.223603A>G-
NM_004168.4(SDHA):c.71C>G (p.Thr24Arg)6389SDHAUncertain significance-1RCV003049788; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223604223604NC_000005.9:g.223604C>G-
NM_004168.4(SDHA):c.72A>C (p.Thr24=)6389SDHALikely benign2126539424RCV001440236; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085223605223605223605-
NM_004168.4(SDHA):c.72A>G (p.Thr24=)6389SDHALikely benign2126539424RCV001445168; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223605223605223605-
NM_004168.4(SDHA):c.74T>C (p.Val25Ala)6389SDHAUncertain significance2126539437RCV001965794; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223607223607223607-
NM_004168.4(SDHA):c.75G>A (p.Val25=)6389SDHALikely benign774378936RCV002178106|RCV002391170; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625223608223608223608-
NM_004168.4(SDHA):c.79C>G (p.Gln27Glu)6389SDHAUncertain significance1734829878RCV001039324; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852236122236125:g.223612C>G-
NM_004168.4(SDHA):c.79C>T (p.Gln27Ter)6389SDHAPathogenic1734829878RCV001385763|RCV002420861; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625223612223612223612-
NM_004168.4(SDHA):c.81A>G (p.Gln27=)6389SDHALikely benign759523671RCV002129162|RCV002427696; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625223614223614223614-
NM_004168.4(SDHA):c.83dup (p.Gly29fs)6389SDHAPathogenic1734830402RCV001037616; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852236152236165:g.223615_223616insC-
NM_004168.4(SDHA):c.83C>T (p.Thr28Ile)6389SDHAUncertain significance1171584124RCV001935291; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085223616223616223616-
NM_004168.4(SDHA):c.84A>G (p.Thr28=)6389SDHALikely benign1553997162RCV000603424|RCV001494315|RCV002448860; NMedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252236172236175:g.223617A>GClinGen:CA442689802CN169374 not specified;
NM_004168.4(SDHA):c.86G>A (p.Gly29Glu)6389SDHAUncertain significance1436200566RCV000542539|RCV001018205|RCV001755880; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005223619223619NC_000005.9:g.223619G>AClinGen:CA359008107C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.88A>G (p.Thr30Ala)6389SDHAUncertain significance2126539529RCV002040499; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223621223621223621-
NM_004168.4(SDHA):c.89C>T (p.Thr30Ile)6389SDHAUncertain significance1560985157RCV000699826|RCV002369914|RCV003472232; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452236222236225:g.223622C>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.90C>G (p.Thr30=)6389SDHALikely benign2126539545RCV001489023; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223623223623223623-
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)6389SDHAConflicting interpretations of pathogenicity752532780RCV000225880|RCV000410721|RCV000571153|RCV001589187|RCV002478861|RCV003475078; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|5223625223625NC_000005.9:g.223625G>AClinGen:CA3172716C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.94G>C (p.Gly32Arg)6389SDHAUncertain significance1734831542RCV001318592; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223627223627223627-
NM_004168.4(SDHA):c.96T>C (p.Gly32=)6389SDHALikely benign2126539605RCV002167795|RCV002372846; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625223629223629223629-
NM_004168.4(SDHA):c.98T>C (p.Phe33Ser)6389SDHAUncertain significance1734831975RCV001218025; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252236312236315:g.223631T>C-
NM_004168.4(SDHA):c.99_108del (p.Phe33fs)6389SDHAPathogenic1734832099RCV001223903; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252236312236405:g.223631_223640del-
NM_004168.4(SDHA):c.101A>G (p.His34Arg)6389SDHAUncertain significance757478250RCV001009716|RCV001226605; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252236342236345:g.223634A>G-
NM_004168.4(SDHA):c.102C>T (p.His34=)6389SDHALikely benign2126539644RCV002117682|RCV002382369; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625223635223635223635-
NM_004168.4(SDHA):c.106A>G (p.Thr36Ala)6389SDHAUncertain significance750500173RCV000218672|RCV000559108|RCV002509312|RCV003475003; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:61364252236392236395:g.223639A>GClinGen:CA3172719C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.106A>T (p.Thr36Ser)6389SDHAUncertain significance750500173RCV000688361|RCV001017190|RCV003472191; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452236392236395:g.223639A>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.107C>T (p.Thr36Ile)6389SDHAUncertain significance1440814662RCV000563141|RCV001242428|RCV003471906; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452236402236405:g.223640C>TClinGen:CA359008161C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.108T>C (p.Thr36=)6389SDHALikely benign1301747916RCV001399952; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223641223641223641-
NM_004168.4(SDHA):c.109G>A (p.Val37Ile)6389SDHAConflicting interpretations of pathogenicity758426529RCV000229719|RCV000574162|RCV000662820|RCV003441813; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|52236422236425:g.223642G>AClinGen:CA3172720C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.112G>C (p.Asp38His)6389SDHAUncertain significance1553997174RCV000649394; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223645223645NC_000005.9:g.223645G>CClinGen:CA359008177C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.112G>A (p.Asp38Asn)6389SDHAUncertain significance1553997174RCV001929371; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085223645223645223645-
NM_004168.4(SDHA):c.113A>T (p.Asp38Val)6389SDHABenign/Likely benign34635677RCV000210535|RCV000295347|RCV000245657|RCV000352522|RCV000387287|RCV000567706|RCV000757746|RCV001262690|RCV003316169; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|5223646223646NC_000005.9:g.223646A>TUniProtKB:P31040#VAR_049215,ClinGen:CA358585C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.114T>C (p.Asp38=)6389SDHALikely benign-1RCV002452677|RCV003094291; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223647223647-
NM_004168.4(SDHA):c.119A>G (p.Asn40Ser)6389SDHAUncertain significance1734833856RCV001222957; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252236522236525:g.223652A>G-
NM_004168.4(SDHA):c.120C>G (p.Asn40Lys)6389SDHAUncertain significance1579379803RCV001010348|RCV001862766; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252236532236535:g.223653C>G-
NM_004168.4(SDHA):c.120C>T (p.Asn40=)6389SDHALikely benign1579379803RCV001010349|RCV001492667; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252236532236535:g.223653C>T-
NM_004168.4(SDHA):c.120C>A (p.Asn40Lys)6389SDHAUncertain significance1579379803RCV001234262; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252236532236535:g.223653C>A-
NM_004168.4(SDHA):c.121A>C (p.Lys41Gln)6389SDHAUncertain significance1061520RCV001212961|RCV002365956; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252236542236545:g.223654A>C-
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs)6389SDHAPathogenic1385076821RCV001389282; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223654223655223654-
NM_004168.4(SDHA):c.123G>A (p.Lys41=)6389SDHALikely benign1553997185RCV000552529|RCV001010515; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625223656223656NC_000005.9:g.223656G>AClinGen:CA442689950C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.125G>A (p.Arg42Lys)6389SDHAUncertain significance747557411RCV000649445|RCV002424509; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625223658223658NC_000005.9:g.223658G>AClinGen:CA3172721C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.126G>A (p.Arg42=)6389SDHALikely benign2126539845RCV001395474|RCV003169961; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625223659223659223659-
NM_004168.4(SDHA):c.127G>A (p.Ala43Thr)6389SDHAUncertain significance1579379865RCV000800127|RCV001010719; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252236602236605:g.223660G>A-
NM_004168.4(SDHA):c.131C>A (p.Ser44Tyr)6389SDHAUncertain significance1734835164RCV001224422; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252236642236645:g.223664C>A-
NM_004168.4(SDHA):c.131C>T (p.Ser44Phe)6389SDHAUncertain significance1734835164RCV001212267; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252236642236645:g.223664C>T-
NM_004168.4(SDHA):c.131C>G (p.Ser44Cys)6389SDHAUncertain significance-1RCV003021309; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223664223664NC_000005.9:g.223664C>G-
NM_004168.4(SDHA):c.132T>A (p.Ser44=)6389SDHALikely benign-1RCV002755073; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223665223665-
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)6389SDHAConflicting interpretations of pathogenicity140736646RCV000210508|RCV000308179|RCV000347454|RCV000401643|RCV000410936|RCV000572294|RCV000678682|RCV001355540|RCV003330583; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:01005223666223666NC_000005.9:g.223666G>AClinGen:CA358573C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.133G>C (p.Ala45Pro)6389SDHAUncertain significance140736646RCV001971036|RCV002386843; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625223666223666223666-
NM_004168.4(SDHA):c.134C>T (p.Ala45Val)6389SDHAUncertain significance1553997190RCV000571515|RCV000807154; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223667223667NC_000005.9:g.223667C>TClinGen:CA359008269C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)6389SDHAConflicting interpretations of pathogenicity144599870RCV000210526|RCV000250106|RCV000410409|RCV000569199|RCV001705183; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,5223669223669NC_000005.9:g.223669A>GClinGen:CA358581C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.138A>G (p.Lys46=)6389SDHALikely benign-1RCV003035175; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223671223671-
NM_004168.4(SDHA):c.141T>C (p.Val47=)6389SDHALikely benign748490907RCV001499538; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223674223674223674-
NM_004168.4(SDHA):c.141T>G (p.Val47=)6389SDHALikely benign748490907RCV002159256; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223674223674223674-
NM_004168.4(SDHA):c.142T>A (p.Ser48Thr)6389SDHAUncertain significance-1RCV003046386; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223675223675NC_000005.9:g.223675T>A-
NM_004168.4(SDHA):c.144A>G (p.Ser48=)6389SDHALikely benign-1RCV003018461; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223677223677-
NM_004168.4(SDHA):c.145G>C (p.Asp49His)6389SDHAUncertain significance1734836072RCV001043194|RCV003236859; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C366190052236782236785:g.223678G>C-
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)6389SDHAConflicting interpretations of pathogenicity80207011RCV000130407|RCV000228248|RCV000410621|RCV001704054|RCV001818312; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|52236792236795:g.223679A>GClinGen:CA166372C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.147T>C (p.Asp49=)6389SDHALikely benign2126539950RCV001425772; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223680223680223680-
NM_004168.4(SDHA):c.148T>G (p.Ser50Ala)6389SDHAUncertain significance1560985310RCV000688888; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223681223681NC_000005.9:g.223681T>G-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.149C>A (p.Ser50Tyr)6389SDHAUncertain significance369321221RCV001011909|RCV001050816; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252236822236825:g.223682C>A-
NM_004168.4(SDHA):c.149C>T (p.Ser50Phe)6389SDHAUncertain significance369321221RCV001011911|RCV001234880; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252236822236825:g.223682C>T-
NM_004168.4(SDHA):c.149C>G (p.Ser50Cys)6389SDHAUncertain significance369321221RCV001373831; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223682223682223682-
NM_004168.4(SDHA):c.150C>T (p.Ser50=)6389SDHAConflicting interpretations of pathogenicity140264486RCV000531485|RCV001011952|RCV003431099; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005223683223683NC_000005.9:g.223683C>TClinGen:CA3172724C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.150_150+1delinsTA6389SDHALikely pathogenic2126539987RCV001379923; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223683223684223683-
NM_004168.4(SDHA):c.150+1G>A6389SDHAConflicting interpretations of pathogenicity1057523165RCV000438780|RCV000471142|RCV000568947|RCV003476016; NMedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:61364252236842236845:g.223684G>AClinGen:CA16604887C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.150+2dup6389SDHAUncertain significance1560985349RCV000689582; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223684223685NC_000005.9:g.223685dup-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.150+1G>C6389SDHAConflicting interpretations of pathogenicity1057523165RCV001378129|RCV003169937; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625223684223684223684-
NM_004168.4(SDHA):c.150+4A>G6389SDHAUncertain significance1734837029RCV001306330|RCV003166740; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625223687223687223687-
NM_004168.4(SDHA):c.150+5G>T6389SDHAUncertain significance770610694RCV000704406|RCV003165904; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625223688223688NC_000005.9:g.223688G>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.150+6T>G6389SDHAUncertain significance1060503699RCV000477184; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085223689223689NC_000005.9:g.223689T>GClinGen:CA16612042C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.150+7T>G6389SDHALikely benign1734837376RCV001404311; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223690223690223690-
NM_004168.4(SDHA):c.150+9A>G6389SDHALikely benign1553997201RCV000559846; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085223692223692NC_000005.9:g.223692A>GClinGen:CA658657417C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.150+12C>G6389SDHALikely benign773966272RCV002167536; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223695223695223695-
NM_004168.4(SDHA):c.150+12C>T6389SDHALikely benign773966272RCV002095492; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223695223695223695-
NM_004168.4(SDHA):c.150+17dup6389SDHABenign1734837730RCV002124620; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085223695223696223695-
NM_004168.4(SDHA):c.150+14T>G6389SDHALikely benign-1RCV002602588; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223697223697NC_000005.9:g.223697T>G-
NM_004168.4(SDHA):c.150+15T>C6389SDHALikely benign1734837973RCV002169045; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223698223698223698-
NM_004168.4(SDHA):c.150+18G>C6389SDHALikely benign759611800RCV002220289; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725223701223701223701-
NM_004168.4(SDHA):c.151-20G>T6389SDHALikely benign2126542228RCV002095591; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224455224455224455-
NM_004168.4(SDHA):c.151-20G>C6389SDHALikely benign2126542228RCV002218006; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224455224455224455-
NM_004168.4(SDHA):c.151-18T>G6389SDHALikely benign-1RCV003062782; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224457224457NC_000005.9:g.224457T>G-
NM_004168.4(SDHA):c.151-17G>A6389SDHALikely benign-1RCV002800988; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224458224458NC_000005.9:g.224458G>A-
NM_004168.4(SDHA):c.151-16A>C6389SDHALikely benign-1RCV003061561; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224459224459NC_000005.9:g.224459A>C-
NM_004168.4(SDHA):c.151-15A>G6389SDHAUncertain significance-1RCV003074284; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224460224460NC_000005.9:g.224460A>G-
NM_004168.4(SDHA):c.151-9_151-7del6389SDHAUncertain significance2126542243RCV001929708; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085224464224466224463-
NM_004168.4(SDHA):c.151-9C>G6389SDHAUncertain significance1734881724RCV001339871; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224466224466224466-
NM_004168.4(SDHA):c.151-9C>T6389SDHAUncertain significance1734881724RCV001952261; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085224466224466224466-
NM_004168.4(SDHA):c.151-6T>A6389SDHALikely benign1352062665RCV001225521; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252244692244695:g.224469T>A-
NM_004168.4(SDHA):c.151-3C>T6389SDHAUncertain significance-1RCV003121616; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085224472224472NC_000005.9:g.224472C>T-
NM_004168.4(SDHA):c.151-2A>G6389SDHALikely pathogenic-1RCV003086856|RCV003455712; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224473224473NC_000005.9:g.224473A>G-
NM_004168.4(SDHA):c.151-1G>C6389SDHALikely pathogenic1458851277RCV000560981|RCV001859971; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224474224474NC_000005.9:g.224474G>CClinGen:CA359008365C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr)6389SDHAUncertain significance150326789RCV000649450|RCV002397291|RCV002499110|RCV003472047; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MO5224478224478NC_000005.9:g.224478T>AClinGen:CA3172743C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)6389SDHAUncertain significance377470390RCV000239368|RCV000565564|RCV000764599|RCV001820793|RCV003313064|RCV003475849|RCV003137852; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MO5224479224479NC_000005.9:g.224479C>TClinGen:CA3172744C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.159T>C (p.Ala53=)6389SDHALikely benign-1RCV003065281; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224483224483-
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter)6389SDHAPathogenic1560985916RCV001236314|RCV001565032; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN51720252244842244845:g.224484C>T-
NM_004168.4(SDHA):c.162G>A (p.Gln54=)6389SDHALikely benign1468436658RCV000649463|RCV002397292; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224486224486NC_000005.9:g.224486G>AClinGen:CA442690725C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.163T>C (p.Tyr55His)6389SDHABenign/Likely benign142926807RCV000303103|RCV000360177|RCV000399750|RCV000464569|RCV000570704|RCV000606498|RCV003333981|RCV003316500; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:001365224487224487NC_000005.9:g.224487T>CClinGen:CA3172745C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.164A>G (p.Tyr55Cys)6389SDHAUncertain significance2126542365RCV002005698; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224488224488224488-
NM_004168.4(SDHA):c.166C>A (p.Pro56Thr)6389SDHAUncertain significance2126542374RCV001963393|RCV003475261; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545224490224490224490-
NM_004168.4(SDHA):c.167C>T (p.Pro56Leu)6389SDHAUncertain significance-1RCV002300329; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224491224491224491-
NM_004168.4(SDHA):c.168A>G (p.Pro56=)6389SDHALikely benign745316978RCV001438317|RCV003284327; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224492224492224492-
NM_004168.4(SDHA):c.169G>T (p.Val57Leu)6389SDHAUncertain significance1060503724RCV000467197|RCV001012788|RCV002481483; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; 5224493224493NC_000005.9:g.224493G>TClinGen:CA16611822C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.169G>A (p.Val57Ile)6389SDHAUncertain significance1060503724RCV002044372; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085224493224493224493-
NM_004168.4(SDHA):c.171dup (p.Val58fs)6389SDHAPathogenic/Likely pathogenic1553997323RCV000657509|RCV001069584; NMedGen:CN517202|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224494224495NC_000005.9:g.224495dup-
NM_004168.4(SDHA):c.170T>A (p.Val57Glu)6389SDHAUncertain significance1734883606RCV001337890; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224494224494224494-
NM_004168.4(SDHA):c.173T>G (p.Val58Gly)6389SDHAUncertain significance2126542426RCV001905645|RCV002397842; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224497224497224497-
NM_004168.4(SDHA):c.175G>A (p.Asp59Asn)6389SDHAUncertain significance-1RCV002303964; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224499224499224499-
NM_004168.4(SDHA):c.176A>G (p.Asp59Gly)6389SDHAUncertain significance775449731RCV001921055|RCV002397910; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224500224500224500-
NM_004168.4(SDHA):c.181G>T (p.Glu61Ter)6389SDHAPathogenic1734884330RCV001037508; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852245052245055:g.224505G>T-
NM_004168.4(SDHA):c.188A>T (p.Asp63Val)6389SDHAUncertain significance1553997327RCV000549810|RCV003159902; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224512224512NC_000005.9:g.224512A>TClinGen:CA359008452C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.188A>G (p.Asp63Gly)6389SDHAUncertain significance1553997327RCV000702942|RCV002406634; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224512224512NC_000005.9:g.224512A>G-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.189T>C (p.Asp63=)6389SDHALikely benign2126542493RCV001489795|RCV002414187; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224513224513224513-
NM_004168.4(SDHA):c.190G>A (p.Ala64Thr)6389SDHAUncertain significance1734884655RCV001296934; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224514224514224514-
NM_004168.4(SDHA):c.191C>T (p.Ala64Val)6389SDHAUncertain significance760510019RCV000570877|RCV001048664; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252245152245155:g.224515C>TClinGen:CA3172749C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.194T>C (p.Val65Ala)6389SDHAUncertain significance-1RCV002300119; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224518224518224518-
NM_004168.4(SDHA):c.195G>A (p.Val65=)6389SDHALikely benign2126542556RCV002097082; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224519224519224519-
NM_004168.4(SDHA):c.198G>A (p.Val66=)6389SDHALikely benign1429525714RCV002190412|RCV002423319; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224522224522224522-
NM_004168.4(SDHA):c.200T>C (p.Val67Ala)6389SDHAUncertain significance-1RCV002933773; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224524224524NC_000005.9:g.224524T>C-
NM_004168.4(SDHA):c.202G>A (p.Gly68Ser)6389SDHAUncertain significance-1RCV003009564; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224526224526NC_000005.9:g.224526G>A-
NM_004168.4(SDHA):c.204C>T (p.Gly68=)6389SDHAConflicting interpretations of pathogenicity1055082816RCV000649420|RCV002422380|RCV002485461; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M52245282245285:g.224528C>TClinGen:CA442690857C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr)6389SDHAUncertain significance370481102RCV000234463|RCV002418011|RCV003137848|RCV003417818; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|5224529224529NC_000005.9:g.224529G>AClinGen:CA3172750C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.205G>T (p.Ala69Ser)6389SDHAUncertain significance-1RCV003021160; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224529224529NC_000005.9:g.224529G>T-
NM_004168.4(SDHA):c.209G>C (p.Gly70Ala)6389SDHAUncertain significance2126542624RCV002036381; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085224533224533224533-
NM_004168.4(SDHA):c.214dup (p.Ala72fs)6389SDHAPathogenic1734887425RCV001228059; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252245342245355:g.224534_224535insG-
NM_004168.4(SDHA):c.211G>A (p.Gly71Arg)6389SDHAUncertain significance1734887299RCV001240524; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252245352245355:g.224535G>A-
NM_004168.4(SDHA):c.215C>T (p.Ala72Val)6389SDHAUncertain significance1204881025RCV001885549; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224539224539224539-
NM_004168.4(SDHA):c.216A>G (p.Ala72=)6389SDHALikely benign1734887844RCV001502854|RCV002424934; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224540224540224540-
NM_004168.4(SDHA):c.218G>T (p.Gly73Val)6389SDHAUncertain significance1553997347RCV000565207|RCV001222332; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224542224542NC_000005.9:g.224542G>TClinGen:CA359008510C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.219C>G (p.Gly73=)6389SDHALikely benign776288745RCV000228306|RCV001014761; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252245432245435:g.224543C>GClinGen:CA3172751C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.220T>C (p.Leu74=)6389SDHALikely benign-1RCV003020674; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224544224544-
NM_004168.4(SDHA):c.221T>C (p.Leu74Ser)6389SDHAUncertain significance763220651RCV001049640; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852245452245455:g.224545T>C-
NM_004168.4(SDHA):c.222G>C (p.Leu74Phe)6389SDHAUncertain significance-1RCV002776502; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224546224546NC_000005.9:g.224546G>C-
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)6389SDHAPathogenic/Likely pathogenic781764920RCV000191050|RCV000481058|RCV000575496|RCV000684793|RCV002492875|RCV003474945; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:61416552245472245475:g.224547C>TClinGen:CA276119,OMIM:600857.0010C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.224G>A (p.Arg75Gln)6389SDHAUncertain significance751645963RCV001014928|RCV001362073; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252245482245485:g.224548G>A-
NM_004168.4(SDHA):c.227C>T (p.Ala76Val)6389SDHAUncertain significance1734888838RCV001984674; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224551224551224551-
NM_004168.4(SDHA):c.228T>G (p.Ala76=)6389SDHALikely benign1416043203RCV001423915|RCV002456692; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224552224552224552-
NM_004168.4(SDHA):c.233T>C (p.Phe78Ser)6389SDHAUncertain significance-1RCV002922102; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224557224557NC_000005.9:g.224557T>C-
NM_004168.4(SDHA):c.236G>A (p.Gly79Asp)6389SDHAUncertain significance759568419RCV001048302|RCV002451194; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252245602245605:g.224560G>A-
NM_004168.4(SDHA):c.237C>T (p.Gly79=)6389SDHALikely benign767927763RCV002185961; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224561224561224561-
NM_004168.4(SDHA):c.240T>C (p.Leu80=)6389SDHALikely benign2126542884RCV002190922|RCV002454568; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224564224564224564-
NM_004168.4(SDHA):c.242C>T (p.Ser81Phe)6389SDHAUncertain significance1553997357RCV000546249; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085224566224566NC_000005.9:g.224566C>TClinGen:CA359008555C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer)6389SDHAPathogenic2126542910RCV001381899|RCV002456598|RCV003148988; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224566224567224566-
NM_004168.4(SDHA):c.243T>C (p.Ser81=)6389SDHALikely benign-1RCV002460027|RCV003101821; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224567224567-
NM_004168.4(SDHA):c.245_252del (p.Glu82fs)6389SDHAPathogenic1734890180RCV001218717; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252245682245755:g.224568_224575del-
NM_004168.4(SDHA):c.249A>G (p.Ala83=)6389SDHALikely benign1560986107RCV000976609|RCV002427407; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252245732245735:g.224573A>G-
NM_004168.4(SDHA):c.250G>A (p.Gly84Arg)6389SDHAUncertain significance2126542993RCV001982263; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224574224574224574-
NM_004168.4(SDHA):c.250G>C (p.Gly84Arg)6389SDHAUncertain significance-1RCV002792033; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224574224574NC_000005.9:g.224574G>C-
NM_004168.4(SDHA):c.251G>A (p.Gly84Glu)6389SDHAUncertain significance199615452RCV001877331; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085224575224575224575-
NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer)6389SDHAPathogenic1560986132RCV000698951; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224576224577NC_000005.9:g.224577_224580dup-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.252G>T (p.Gly84=)6389SDHALikely benign753293451RCV001243121|RCV002430032; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252245762245765:g.224576G>T-
NM_004168.4(SDHA):c.252G>A (p.Gly84=)6389SDHALikely benign753293451RCV001439510|RCV002456728; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224576224576224576-
NM_004168.4(SDHA):c.252G>C (p.Gly84=)6389SDHALikely benign753293451RCV001463522; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224576224576224576-
NM_004168.4(SDHA):c.256A>G (p.Asn86Asp)6389SDHAUncertain significance200519133RCV001069653; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252245802245805:g.224580A>G-
NM_004168.4(SDHA):c.257A>G (p.Asn86Ser)6389SDHAUncertain significance2126543056RCV001866664; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085224581224581224581-
NM_004168.4(SDHA):c.260C>T (p.Thr87Ile)6389SDHAUncertain significance756543943RCV000649443|RCV002440349|RCV003324782|RCV003472045; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:6136425224584224584NC_000005.9:g.224584C>TClinGen:CA3172758C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.261A>G (p.Thr87=)6389SDHALikely benign2126543070RCV002107921; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085224585224585224585-
NM_004168.4(SDHA):c.261A>C (p.Thr87=)6389SDHALikely benign-1RCV003059178|RCV003170918; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224585224585-
NM_004168.4(SDHA):c.262G>A (p.Ala88Thr)6389SDHAUncertain significance2126543077RCV002046360; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224586224586224586-
NM_004168.4(SDHA):c.263C>G (p.Ala88Gly)6389SDHAUncertain significance1734891785RCV001228307|RCV001751443; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN51720252245872245875:g.224587C>G-
NM_004168.4(SDHA):c.263C>T (p.Ala88Val)6389SDHAUncertain significance1734891785RCV001997624; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224587224587224587-
NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr)6389SDHAUncertain significance138016874RCV001365305|RCV002438848|RCV003473885; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545224590224590224590-
NM_004168.4(SDHA):c.267T>A (p.Cys89Ter)6389SDHAPathogenic1579381753RCV001016312|RCV001221035; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252245912245915:g.224591T>A-
NM_004168.4(SDHA):c.268G>A (p.Val90Ile)6389SDHAUncertain significance2126543120RCV001873104; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085224592224592224592-
NM_004168.4(SDHA):c.269T>C (p.Val90Ala)6389SDHAUncertain significance886060514RCV000267910|RCV000297336|RCV000354574; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:290725224593224593NC_000005.9:g.224593T>CClinGen:CA10624326C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.272C>T (p.Thr91Ile)6389SDHAUncertain significance-1RCV002644380|RCV003475517; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545224596224596NC_000005.9:g.224596C>T-
NM_004168.4(SDHA):c.273C>A (p.Thr91=)6389SDHALikely benign2126543162RCV001439489; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224597224597224597-
NM_004168.4(SDHA):c.274A>C (p.Lys92Gln)6389SDHAUncertain significance1734892884RCV001037040; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852245982245985:g.224598A>C-
NM_004168.4(SDHA):c.275A>G (p.Lys92Arg)6389SDHAUncertain significance778267118RCV002024507; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224599224599224599-
NM_004168.4(SDHA):c.276G>C (p.Lys92Asn)6389SDHAUncertain significance375298039RCV001065659|RCV002436661; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252246002246005:g.224600G>C-
NM_004168.4(SDHA):c.276G>A (p.Lys92=)6389SDHALikely benign375298039RCV001451721|RCV002439066; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224600224600224600-
NM_004168.4(SDHA):c.278T>C (p.Leu93Pro)6389SDHAUncertain significance1326611328RCV001904024; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224602224602224602-
NM_004168.4(SDHA):c.283C>G (p.Pro95Ala)6389SDHAUncertain significance-1RCV003050739; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224607224607NC_000005.9:g.224607C>G-
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg)6389SDHAConflicting interpretations of pathogenicity1553997377RCV000570222|RCV000558917; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085224608224608NC_000005.9:g.224608C>GClinGen:CA359008642C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.285T>C (p.Pro95=)6389SDHALikely benign2126543225RCV002140638|RCV002434567; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224609224609224609-
NM_004168.4(SDHA):c.286A>G (p.Thr96Ala)6389SDHAUncertain significance-1RCV002932538; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224610224610NC_000005.9:g.224610A>G-
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile)6389SDHAUncertain significance377620054RCV000231817|RCV000569754|RCV000663057|RCV000761150|RCV000786220; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|5224611224611NC_000005.9:g.224611C>TClinGen:CA3172761C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.290G>C (p.Arg97Thr)6389SDHAUncertain significance371274523RCV000649462|RCV002440350|RCV003420138; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|5224614224614NC_000005.9:g.224614G>CClinGen:CA3172762C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.291G>A (p.Arg97=)6389SDHALikely benign-1RCV002439942|RCV003102879; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224615224615-
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu)6389SDHAUncertain significance1579381851RCV000801045|RCV001329183|RCV003166199; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252246172246175:g.224617C>T-
NM_004168.4(SDHA):c.298_299del (p.Thr100fs)6389SDHAPathogenic/Likely pathogenic2126543272RCV001958646|RCV002256871; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224617224618224616-
NM_004168.4(SDHA):c.296A>G (p.His99Arg)6389SDHAUncertain significance1579381882RCV000798855; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252246202246205:g.224620A>G-
NM_004168.4(SDHA):c.297C>T (p.His99=)6389SDHALikely benign-1RCV002442194|RCV003102941; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224621224621-
NM_004168.4(SDHA):c.300T>C (p.Thr100=)6389SDHALikely benign771662494RCV000461867|RCV001018051; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224624224624NC_000005.9:g.224624T>CClinGen:CA3172764C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.303T>G (p.Val101=)6389SDHALikely benign2126543357RCV001456082|RCV003298782; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224627224627224627-
NM_004168.4(SDHA):c.303T>C (p.Val101=)6389SDHALikely benign-1RCV003025582; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224627224627-
NM_004168.4(SDHA):c.304_305delinsAT (p.Ala102Ile)6389SDHAUncertain significance1734896344RCV001238075; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224628224629NC_000005.9:g.224628_224629delinsAT-
NM_004168.4(SDHA):c.305C>T (p.Ala102Val)6389SDHAUncertain significance1240528592RCV001064465|RCV003160529; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252246292246295:g.224629C>T-
NM_004168.4(SDHA):c.306A>G (p.Ala102=)6389SDHALikely benign2126543388RCV001394481|RCV002449089; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224630224630224630-
NM_004168.4(SDHA):c.306A>T (p.Ala102=)6389SDHALikely benign2126543388RCV001484330; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224630224630224630-
NM_004168.4(SDHA):c.310_311dup (p.Gln104fs)6389SDHAPathogenic876658637RCV000216352|RCV002518274; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224631224632NC_000005.9:g.224632CA[3]ClinGen:CA10578625C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)6389SDHAConflicting interpretations of pathogenicity-1RCV001312570|RCV002319698; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224632224633224632-
NM_004168.4(SDHA):c.309A>G (p.Ala103=)6389SDHABenign1139424RCV000118318|RCV000162942|RCV000261547|RCV000319629|RCV000385778|RCV001509667|RCV001705861|RCV003315682; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32052246332246335:g.224633A>GClinGen:CA155154C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter)6389SDHAPathogenic1423978863RCV001018677|RCV001383484; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252246342246345:g.224634C>T-
NM_004168.4(SDHA):c.312G>A (p.Gln104=)6389SDHAConflicting interpretations of pathogenicity2126543437RCV001939725|RCV003382703; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224636224636224636-
NM_004168.4(SDHA):c.312+1G>A6389SDHALikely pathogenic2126543441RCV002018663; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224637224637224637-
NM_004168.4(SDHA):c.312+4A>C6389SDHAUncertain significance-1RCV002320489|RCV003099215; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224640224640224640-
NM_004168.4(SDHA):c.312+5G>A6389SDHAUncertain significance1384659459RCV001991159; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085224641224641224641-
NM_004168.4(SDHA):c.312+5G>C6389SDHAUncertain significance-1RCV002872079|RCV003308310; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625224641224641NC_000005.9:g.224641G>C-
NM_004168.4(SDHA):c.312+7G>T6389SDHALikely benign2126543454RCV001399704; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224643224643224643-
NM_004168.4(SDHA):c.312+7G>C6389SDHALikely benign2126543454RCV002071416; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085224643224643224643-
NM_004168.4(SDHA):c.312+11G>C6389SDHALikely benign2126543478RCV002157950; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224647224647224647-
NM_004168.4(SDHA):c.312+15C>A6389SDHAUncertain significance1180146041RCV002013200; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224651224651224651-
NM_004168.4(SDHA):c.312+16C>T6389SDHALikely benign771169259RCV002155618; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224652224652224652-
NM_004168.4(SDHA):c.312+16C>G6389SDHALikely benign-1RCV002610244; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224652224652NC_000005.9:g.224652C>G-
NM_004168.4(SDHA):c.312+17C>T6389SDHALikely benign1734898561RCV002145321; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224653224653224653-
NM_004168.4(SDHA):c.312+18C>T6389SDHALikely benign-1RCV003077835; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224654224654NC_000005.9:g.224654C>T-
NM_004168.4(SDHA):c.312+20C>T6389SDHAConflicting interpretations of pathogenicity111533078RCV002077205|RCV003238458; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C36619005224656224656224656-
NM_004168.4(SDHA):c.312+20C>A6389SDHALikely benign111533078RCV002095679; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725224656224656224656-
NM_004168.4(SDHA):c.313-19G>T6389SDHAConflicting interpretations of pathogenicity185555941RCV000411801|RCV000443248|RCV001528662|RCV002058842|RCV003168597; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,52255152255155:g.225515G>TClinGen:CA3172796CN169374 not specified;
NM_004168.4(SDHA):c.313-18A>C6389SDHALikely benign1579383789RCV002170413; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225516225516225516-
NM_004168.4(SDHA):c.313-13T>C6389SDHAUncertain significance-1RCV002838155; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225521225521NC_000005.9:g.225521T>C-
NM_004168.4(SDHA):c.313-11G>A6389SDHAUncertain significance1734951831RCV001888701; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225523225523225523-
NM_004168.4(SDHA):c.313-10G>A6389SDHALikely benign1579383848RCV000798776; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252255242255245:g.225524G>A-
NM_004168.4(SDHA):c.313-8G>A6389SDHALikely benign1060503710RCV000458845; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225526225526NC_000005.9:g.225526G>AClinGen:CA16611864C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.313-7T>C6389SDHALikely benign201972549RCV000465323|RCV002323758; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225527225527NC_000005.9:g.225527T>CClinGen:CA16612044C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.313-6T>C6389SDHALikely benign1579383890RCV001479131; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252255282255285:g.225528T>C-
NM_004168.4(SDHA):c.313-5T>G6389SDHAUncertain significance1060503705RCV000459906; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225529225529NC_000005.9:g.225529T>GClinGen:CA16612045C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.313-4C>T6389SDHALikely benign1368657380RCV000881226|RCV002320062; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252255302255305:g.225530C>T-
NM_004168.4(SDHA):c.313-4C>G6389SDHALikely benign1368657380RCV001018765|RCV001426122; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252255302255305:g.225530C>G-
NM_004168.4(SDHA):c.313-3C>T6389SDHAConflicting interpretations of pathogenicity1553997584RCV000534970|RCV000572784; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225531225531NC_000005.9:g.225531C>TClinGen:CA658657418C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.313G>A (p.Gly105Arg)6389SDHAUncertain significance2126546583RCV001980030; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225534225534225534-
NM_004168.4(SDHA):c.314_315delinsTT (p.Gly105Val)6389SDHAUncertain significance1734953252RCV001217978; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225535225536NC_000005.9:g.225535_225536delinsTT-
NM_004168.4(SDHA):c.316G>C (p.Gly106Arg)6389SDHAUncertain significance1579383936RCV000797368; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252255372255375:g.225537G>C-
NM_004168.4(SDHA):c.319A>G (p.Ile107Val)6389SDHAUncertain significance1060503720RCV000462764|RCV000566699; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225540225540NC_000005.9:g.225540A>GClinGen:CA16611823C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.320T>A (p.Ile107Asn)6389SDHAUncertain significance1734953616RCV001042880; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852255412255415:g.225541T>A-
NM_004168.4(SDHA):c.320T>G (p.Ile107Ser)6389SDHAUncertain significance1734953616RCV001238881; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252255412255415:g.225541T>G-
NM_004168.4(SDHA):c.321C>G (p.Ile107Met)6389SDHAUncertain significance1734953765RCV001248524|RCV002322166; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252255422255425:g.225542C>G-
NM_004168.4(SDHA):c.322_323del (p.Asn108fs)6389SDHAPathogenic/Likely pathogenic2126546657RCV001931700|RCV002259153; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225543225544225542-
NM_004168.4(SDHA):c.323A>G (p.Asn108Ser)6389SDHAUncertain significance758086385RCV000469628|RCV001019353; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225544225544NC_000005.9:g.225544A>GClinGen:CA3172800C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.328G>C (p.Ala110Pro)6389SDHAUncertain significance786205209RCV001351460; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225549225549NC_000005.9:g.225549G>CClinVar:190221C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.329C>T (p.Ala110Val)6389SDHAUncertain significance-1RCV003042705; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225550225550NC_000005.9:g.225550C>T-
NM_004168.4(SDHA):c.334G>A (p.Gly112Arg)6389SDHAUncertain significance751114575RCV000472280; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225555225555NC_000005.9:g.225555G>AClinGen:CA3172802C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.336G>C (p.Gly112=)6389SDHALikely benign375645919RCV000548300|RCV002456217; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225557225557NC_000005.9:g.225557G>CClinGen:CA112815542C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.336G>A (p.Gly112=)6389SDHALikely benign-1RCV002857070|RCV003340541; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225557225557-
NM_004168.4(SDHA):c.337A>G (p.Asn113Asp)6389SDHAUncertain significance1450249875RCV001972890|RCV003303527; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225558225558225558-
NM_004168.4(SDHA):c.338A>G (p.Asn113Ser)6389SDHAUncertain significance1734955271RCV001215082; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252255592255595:g.225559A>G-
NM_004168.4(SDHA):c.338A>T (p.Asn113Ile)6389SDHAUncertain significance1734955271RCV001248525|RCV002451617; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252255592255595:g.225559A>T-
NM_004168.4(SDHA):c.338A>C (p.Asn113Thr)6389SDHAUncertain significance1734955271RCV001876644; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225559225559225559-
NM_004168.4(SDHA):c.339C>T (p.Asn113=)6389SDHALikely benign-1RCV002666720; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225560225560-
NM_004168.4(SDHA):c.340A>G (p.Met114Val)6389SDHAUncertain significance933414586RCV000649403|RCV002458123|RCV002485460; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M52255612255615:g.225561A>GClinGen:CA112815549C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.341T>A (p.Met114Lys)6389SDHAUncertain significance-1RCV003026823; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225562225562NC_000005.9:g.225562T>A-
NM_004168.4(SDHA):c.342GGA[2] (p.Glu116del)6389SDHAUncertain significance1734955897RCV001989991; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225563225565225562-
NM_004168.4(SDHA):c.345G>C (p.Glu115Asp)6389SDHAUncertain significance368286780RCV001228080|RCV002451534; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252255662255665:g.225566G>C-
NM_004168.4(SDHA):c.345G>A (p.Glu115=)6389SDHALikely benign368286780RCV001469188|RCV002460161; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225566225566225566-
NM_004168.4(SDHA):c.348G>A (p.Glu116=)6389SDHALikely benign2126546824RCV002177199|RCV002454348; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225569225569225569-
NM_004168.4(SDHA):c.349G>A (p.Asp117Asn)6389SDHAUncertain significance2126546832RCV002028208; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225570225570225570-
NM_004168.4(SDHA):c.350A>G (p.Asp117Gly)6389SDHAUncertain significance1579384062RCV000818402; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252255712255715:g.225571A>G-
NM_004168.4(SDHA):c.351C>T (p.Asp117=)6389SDHALikely benign1579384072RCV001406492|RCV002454148; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252255722255725:g.225572C>T-
NM_004168.4(SDHA):c.353A>G (p.Asn118Ser)6389SDHAUncertain significance987288514RCV001935816|RCV003167192; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225574225574225574-
NM_004168.4(SDHA):c.354C>T (p.Asn118=)6389SDHALikely benign923803277RCV000973738|RCV002337016; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252255752255755:g.225575C>T-
NM_004168.4(SDHA):c.355T>C (p.Trp119Arg)6389SDHAUncertain significance1734957208RCV001349827; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225576225576225576-
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter)6389SDHAPathogenic1734957331RCV001062355|RCV001799730|RCV002451264|RCV003235460|RCV003455281; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:001552255772255775:g.225577G>A-
NM_004168.4(SDHA):c.359G>A (p.Arg120Lys)6389SDHAUncertain significance2126546923RCV002033777; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225580225580225580-
NM_004168.4(SDHA):c.360G>A (p.Arg120=)6389SDHALikely benign1247649190RCV001474605|RCV002456824; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225581225581225581-
NM_004168.4(SDHA):c.364C>A (p.His122Asn)6389SDHAUncertain significance-1RCV003004949; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225585225585NC_000005.9:g.225585C>A-
NM_004168.4(SDHA):c.365A>G (p.His122Arg)6389SDHAUncertain significance1579384131RCV000816860|RCV002495158|RCV003307530; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MONDO52255862255865:g.225586A>G-
NM_004168.4(SDHA):c.369C>G (p.Phe123Leu)6389SDHAUncertain significance1579384137RCV001020912|RCV001373562; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252255902255905:g.225590C>G-
NM_004168.4(SDHA):c.370T>C (p.Tyr124His)6389SDHAUncertain significance2126546996RCV001936982; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225591225591225591-
NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys)6389SDHAUncertain significance935241830RCV000468036|RCV002349988; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225592225592NC_000005.9:g.225592A>GClinGen:CA16611927C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.372C>T (p.Tyr124=)6389SDHALikely benign754393360RCV000460760|RCV001020988|RCV003431041; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005225593225593NC_000005.9:g.225593C>TClinGen:CA3172803C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.373G>A (p.Asp125Asn)6389SDHAUncertain significance780654623RCV000528854|RCV002350354|RCV001821586; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN1693745225594225594NC_000005.9:g.225594G>AClinGen:CA3172804C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.373G>C (p.Asp125His)6389SDHAUncertain significance780654623RCV001021015|RCV001205740; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252255942255945:g.225594G>C-
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)6389SDHAPathogenic/Likely pathogenic1553997617RCV000539370|RCV001021144|RCV003151099|RCV003419981|RCV003476304; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900||MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613645225598225598NC_000005.9:g.225599delClinGen:CA658657419C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.378C>T (p.Thr126=)6389SDHALikely benign756039268RCV000469212|RCV002367621; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225599225599NC_000005.9:g.225599C>TClinGen:CA3172806C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.379G>A (p.Val127Met)6389SDHAUncertain significance777600956RCV000473055|RCV000569237; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225600225600NC_000005.9:g.225600G>AClinGen:CA3172807C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.386G>A (p.Gly129Asp)6389SDHAUncertain significance2126547166RCV001899967; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225607225607225607-
NM_004168.4(SDHA):c.389C>G (p.Ser130Cys)6389SDHAUncertain significance1553997625RCV000537028|RCV002358583; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225610225610NC_000005.9:g.225610C>GClinGen:CA359009441C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.390C>T (p.Ser130=)6389SDHALikely benign748976493RCV000571960|RCV000649489; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252256112256115:g.225611C>TClinGen:CA3172808C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.392_396dup (p.Leu133fs)6389SDHAPathogenic2126547233RCV001866474; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225611225612225611-
NM_004168.4(SDHA):c.391G>A (p.Asp131Asn)6389SDHAUncertain significance1324014370RCV000575285|RCV000691087|RCV001800774; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C366190052256122256125:g.225612G>AClinGen:CA359009446C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.392A>G (p.Asp131Gly)6389SDHAUncertain significance2126547239RCV001902435; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225613225613225613-
NM_004168.4(SDHA):c.396G>T (p.Trp132Cys)6389SDHAUncertain significance1734960239RCV001228234|RCV003284086|RCV003473794; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452256172256175:g.225617G>T-
NM_004168.4(SDHA):c.397C>T (p.Leu133=)6389SDHAUncertain significance2126547261RCV001914418; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225618225618225618-
NM_004168.4(SDHA):c.397C>G (p.Leu133Val)6389SDHAUncertain significance2126547261RCV003094257|RCV002259255; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225618225618225618-
NM_004168.4(SDHA):c.403del (p.Asp135fs)6389SDHAPathogenic-1RCV003070967|RCV003316881|RCV003340601; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225620225620NC_000005.9:g.225624del-
NM_004168.4(SDHA):c.401G>T (p.Gly134Val)6389SDHAUncertain significance-1RCV003060696; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225622225622NC_000005.9:g.225622G>T-
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn)6389SDHAUncertain significance1734960553RCV001152038|RCV001152037|RCV001152036|RCV001206474|RCV002355125; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013652256242256245:g.225624G>A-
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu)6389SDHAUncertain significance1365359024RCV002024752|RCV002291797; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225627225627225627-
NM_004168.4(SDHA):c.407A>T (p.Gln136Leu)6389SDHAUncertain significance876660259RCV000213542|RCV002519727; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252256282256285:g.225628A>TClinGen:CA10578626C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.408G>A (p.Gln136=)6389SDHALikely benign190477316RCV000469927|RCV000567403; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225629225629NC_000005.9:g.225629G>AClinGen:CA3172811C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.409G>T (p.Asp137Tyr)6389SDHAUncertain significance1734961262RCV001221891|RCV003380898; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252256302256305:g.225630G>T-
NM_004168.4(SDHA):c.411T>A (p.Asp137Glu)6389SDHAUncertain significance1444399160RCV000525177; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225632225632NC_000005.9:g.225632T>AClinGen:CA359009538C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.411T>G (p.Asp137Glu)6389SDHAUncertain significance1444399160RCV001993997|RCV002324437|RCV003475267; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545225632225632225632-
NM_004168.4(SDHA):c.412G>A (p.Ala138Thr)6389SDHAUncertain significance-1RCV002581147; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225633225633NC_000005.9:g.225633G>A-
NM_004168.4(SDHA):c.413C>T (p.Ala138Val)6389SDHAUncertain significance1342456775RCV000542175; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225634225634NC_000005.9:g.225634C>TClinGen:CA359009551C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.414C>T (p.Ala138=)6389SDHALikely benign1219265195RCV001455176; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252256352256355:g.225635C>T-
NM_004168.4(SDHA):c.415A>G (p.Ile139Val)6389SDHAUncertain significance-1RCV002653993; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225636225636NC_000005.9:g.225636A>G-
NM_004168.4(SDHA):c.419A>G (p.His140Arg)6389SDHAUncertain significance759266253RCV000457011; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225640225640NC_000005.9:g.225640A>GClinGen:CA16611928C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.420C>G (p.His140Gln)6389SDHAUncertain significance747232441RCV001965053; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225641225641225641-
NM_004168.4(SDHA):c.420C>T (p.His140=)6389SDHALikely benign747232441RCV002072839; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225641225641225641-
NM_004168.4(SDHA):c.421T>G (p.Tyr141Asp)6389SDHAUncertain significance1553997643RCV000570081|RCV001342949; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252256422256425:g.225642T>GClinGen:CA359009582C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.421T>C (p.Tyr141His)6389SDHAUncertain significance1553997643RCV000810217|RCV002290977; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:61925952256422256425:g.225642T>C-
NM_004168.4(SDHA):c.422A>G (p.Tyr141Cys)6389SDHAUncertain significance1377816261RCV002223477|RCV002258395|RCV003101271; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225643225643225643-
NM_004168.4(SDHA):c.423C>T (p.Tyr141=)6389SDHALikely benign768897373RCV000234606|RCV000567577; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225644225644NC_000005.9:g.225644C>TClinGen:CA3172813C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.424A>G (p.Met142Val)6389SDHAUncertain significance776848209RCV000457452|RCV001755708|RCV002329086|RCV002481481; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:6141655225645225645NC_000005.9:g.225645A>GClinGen:CA3172814C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.424A>C (p.Met142Leu)6389SDHAUncertain significance776848209RCV001052974; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252256452256455:g.225645A>C-
NM_004168.4(SDHA):c.425_426delinsAC (p.Met142Asn)6389SDHAUncertain significance2126547518RCV001921863; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225646225647225646-
NM_004168.4(SDHA):c.428C>T (p.Thr143Met)6389SDHAUncertain significance200675907RCV000471253|RCV001022221|RCV001821297|RCV003476129; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:6136425225649225649NC_000005.9:g.225649C>TClinGen:CA16612048C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.429G>A (p.Thr143=)6389SDHALikely benign906281170RCV000550383|RCV002330949; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225650225650NC_000005.9:g.225650G>AClinGen:CA112815664C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.429G>T (p.Thr143=)6389SDHALikely benign906281170RCV001503986; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225650225650225650-
NM_004168.4(SDHA):c.433C>G (p.Gln145Glu)6389SDHAUncertain significance765784494RCV002028300|RCV002331590; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225654225654225654-
NM_004168.4(SDHA):c.434A>G (p.Gln145Arg)6389SDHAUncertain significance-1RCV002880440; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225655225655NC_000005.9:g.225655A>G-
NM_004168.4(SDHA):c.436G>C (p.Ala146Pro)6389SDHAUncertain significance-1RCV002303954; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225657225657225657-
NM_004168.4(SDHA):c.436G>A (p.Ala146Thr)6389SDHAUncertain significance-1RCV002909370; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225657225657NC_000005.9:g.225657G>A-
NM_004168.4(SDHA):c.437C>T (p.Ala146Val)6389SDHAUncertain significance1060503714RCV000472132|RCV003362797; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225658225658NC_000005.9:g.225658C>TClinGen:CA16611930C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.439C>T (p.Pro147Ser)6389SDHAUncertain significance1734963793RCV002025413; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225660225660225660-
NM_004168.4(SDHA):c.440C>A (p.Pro147His)6389SDHAUncertain significance763191656RCV000811030; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252256612256615:g.225661C>A-
NM_004168.4(SDHA):c.441C>T (p.Pro147=)6389SDHAConflicting interpretations of pathogenicity201453889RCV000233726|RCV000332396|RCV000389166|RCV000274933|RCV000564203; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO52256622256625:g.225662C>TClinGen:CA3172819C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.441C>A (p.Pro147=)6389SDHALikely benign201453889RCV001480701; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225662225662225662-
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)6389SDHAConflicting interpretations of pathogenicity375576259RCV000228365|RCV000287726|RCV000345164|RCV000383376|RCV000572868|RCV003475076; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:010052256632256635:g.225663G>AClinGen:CA3172820C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.442G>T (p.Ala148Ser)6389SDHAUncertain significance375576259RCV001895502; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225663225663225663-
NM_004168.4(SDHA):c.444C>T (p.Ala148=)6389SDHALikely benign367618662RCV000570539|RCV000649472; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252256652256655:g.225665C>TClinGen:CA3172821C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.444C>G (p.Ala148=)6389SDHALikely benign367618662RCV002170235|RCV002331674; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225665225665225665-
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr)6389SDHAUncertain significance575617625RCV000571754|RCV000764600|RCV000702947; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MO52256662256665:g.225666G>AClinGen:CA3172822C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.446C>T (p.Ala149Val)6389SDHAUncertain significance1060503709RCV000473445; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225667225667NC_000005.9:g.225667C>TClinGen:CA16612049C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.447del (p.Val150fs)6389SDHAPathogenic2126547751RCV001956560; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225667225667225666-
NM_004168.4(SDHA):c.447C>T (p.Ala149=)6389SDHALikely benign752187837RCV000567589|RCV000649485; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252256682256685:g.225668C>TClinGen:CA3172823C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.447C>G (p.Ala149=)6389SDHALikely benign752187837RCV001484797; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252256682256685:g.225668C>G-
NM_004168.4(SDHA):c.447C>A (p.Ala149=)6389SDHALikely benign-1RCV003047880|RCV003294401; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225668225668-
NM_004168.4(SDHA):c.448G>A (p.Val150Met)6389SDHAUncertain significance542980860RCV000562589|RCV000695590|RCV000764601|RCV003328100|RCV003471904; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MO5225669225669NC_000005.9:g.225669G>AClinGen:CA3172824C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.450G>A (p.Val150=)6389SDHAUncertain significance1734965281RCV001298738; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225671225671225671-
NM_004168.4(SDHA):c.451G>A (p.Val151Ile)6389SDHAUncertain significance143148642RCV000232272|RCV002338729|RCV003417819; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|52256722256725:g.225672G>AClinGen:CA3172825C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.453C>T (p.Val151=)6389SDHALikely benign138917116RCV000226323|RCV000603740|RCV001022667; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252256742256745:g.225674C>TClinGen:CA3172826C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.453C>A (p.Val151=)6389SDHAConflicting interpretations of pathogenicity138917116RCV000475275|RCV001022664|RCV003230266; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225674225674NC_000005.9:g.225674C>AClinGen:CA3172827C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.453C>G (p.Val151=)6389SDHALikely benign138917116RCV000649486|RCV001022666; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252256742256745:g.225674C>GClinGen:CA442691016C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys)6389SDHAUncertain significance778737664RCV000526392|RCV001022683|RCV002509437|RCV003231529|RCV003476313; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|M5225675225675NC_000005.9:g.225675G>AClinGen:CA3172828C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.454G>C (p.Glu152Gln)6389SDHAUncertain significance778737664RCV001214350; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252256752256755:g.225675G>C-
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter)6389SDHAPathogenic778737664RCV001383931|RCV002329405; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225675225675225675-
NM_004168.4(SDHA):c.456G>A (p.Glu152=)6389SDHAUncertain significance1579384590RCV001212300|RCV003442772|RCV003473758; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452256772256775:g.225677G>A-
NM_004168.4(SDHA):c.456+1G>A6389SDHALikely pathogenic1579384604RCV001022698|RCV001204959|RCV002271609|RCV002497343; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:01052256782256785:g.225678G>A-
NM_004168.4(SDHA):c.456+3G>T6389SDHAUncertain significance1362754028RCV001052520; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252256802256805:g.225680G>T-
NM_004168.4(SDHA):c.456+3_456+4delinsCT6389SDHAUncertain significance1734966566RCV001058233; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225680225681NC_000005.9:g.225680_225681delinsCT-
NM_004168.4(SDHA):c.456+4del6389SDHAUncertain significance-1RCV002898775; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225681225681NC_000005.9:g.225681del-
NM_004168.4(SDHA):c.456+4A>T6389SDHAUncertain significance-1RCV002881498; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225681225681NC_000005.9:g.225681A>T-
NM_004168.4(SDHA):c.456+6G>T6389SDHAConflicting interpretations of pathogenicity371735891RCV000230222|RCV000662807|RCV000998344|RCV002255137|RCV002518337; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,52256832256835:g.225683G>TClinGen:CA3172829C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.456+6G>C6389SDHAUncertain significance-1RCV002872168; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225683225683NC_000005.9:g.225683G>C-
NM_004168.4(SDHA):c.456+8G>A6389SDHALikely benign2126547879RCV002139773; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225685225685225685-
NM_004168.4(SDHA):c.456+9C>T6389SDHALikely benign200565489RCV000436401|RCV000458063|RCV000662487; NMedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252256862256865:g.225686C>TClinGen:CA3172830C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.456+9C>G6389SDHALikely benign200565489RCV001400748; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225686225686225686-
NM_004168.4(SDHA):c.456+10G>A6389SDHABenign/Likely benign781436294RCV000541963|RCV002476188; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:CN1693745225687225687NC_000005.9:g.225687G>AClinGen:CA3172831C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.456+12G>C6389SDHAUncertain significance-1RCV002615462; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225689225689NC_000005.9:g.225689G>C-
NM_004168.4(SDHA):c.456+14G>A6389SDHALikely benign-1RCV002994619; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225691225691NC_000005.9:g.225691G>A-
NM_004168.4(SDHA):c.456+15G>A6389SDHALikely benign2126547940RCV002194891; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225692225692225692-
NM_004168.4(SDHA):c.456+15G>T6389SDHALikely benign-1RCV002870948; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225692225692NC_000005.9:g.225692G>T-
NM_004168.4(SDHA):c.456+16C>T6389SDHALikely benign748175384RCV002106459; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225693225693225693-
NM_004168.4(SDHA):c.456+17T>C6389SDHALikely benign1350429949RCV001965963; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225694225694225694-
NM_004168.4(SDHA):c.456+17T>G6389SDHALikely benign-1RCV002825659; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225694225694NC_000005.9:g.225694T>G-
NM_004168.4(SDHA):c.456+18C>G6389SDHALikely benign770457461RCV001890819; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225695225695225695-
NM_004168.4(SDHA):c.456+19T>C6389SDHALikely benign2126547979RCV002099882; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225696225696225696-
NM_004168.4(SDHA):c.456+20G>C6389SDHABenign193283468RCV000253864|RCV001516477|RCV001528624|RCV002338802|RCV003316405; NMedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3275225697225697NC_000005.9:g.225697G>CClinGen:CA3172834CN169374 not specified;
NM_004168.4(SDHA):c.456+20G>A6389SDHALikely benign-1RCV002834306; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225697225697NC_000005.9:g.225697G>A-
NM_004168.4(SDHA):c.456+91G>C6389SDHABenign12520059RCV001544161|RCV001544162|RCV001544163; NMONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:6192595225768225768225768-
NM_004168.4(SDHA):c.457-18_457-3dup6389SDHALikely benign1421256041RCV002092961; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225979225980225979-
NM_004168.4(SDHA):c.457-17G>T6389SDHALikely benign-1RCV002966140; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225981225981NC_000005.9:g.225981G>T-
NM_004168.4(SDHA):c.457-12del6389SDHABenign2126549133RCV002156198; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225982225982225981-
NM_004168.4(SDHA):c.457-16T>C6389SDHALikely benign371775474RCV002091923; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225982225982225982-
NM_004168.4(SDHA):c.457-15T>C6389SDHALikely benign-1RCV002651051; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225983225983NC_000005.9:g.225983T>C-
NM_004168.4(SDHA):c.457-11A>G6389SDHALikely benign748265289RCV002220201; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225987225987225987-
NM_004168.4(SDHA):c.457-9C>T6389SDHALikely benign2126549145RCV002157454; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225989225989225989-
NM_004168.4(SDHA):c.457-4A>G6389SDHALikely benign770052391RCV000554430|RCV002256390; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625225994225994NC_000005.9:g.225994A>GClinGen:CA3172853C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.457-4A>T6389SDHAUncertain significance-1RCV002815178; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225994225994NC_000005.9:g.225994A>T-
NM_004168.4(SDHA):c.457-2_457del6389SDHAPathogenic878854632RCV000231881|RCV001799643|RCV002338730; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:00155225995225997NC_000005.9:g.225996_225998delClinGen:CA10582418C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.457-2A>G6389SDHALikely pathogenic2126549179RCV001379214; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085225996225996225996-
NM_004168.4(SDHA):c.457-1G>A6389SDHAPathogenic/Likely pathogenic-1RCV002651872|RCV003336806; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225997225997NC_000005.9:g.225997G>A-
NM_004168.4(SDHA):c.457C>T (p.Leu153=)6389SDHAConflicting interpretations of pathogenicity-1RCV002342190|RCV003094767; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725225998225998-
NM_004168.4(SDHA):c.459A>G (p.Leu153=)6389SDHALikely benign2126549200RCV002101700; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226000226000226000-
NM_004168.4(SDHA):c.460G>A (p.Glu154Lys)6389SDHAUncertain significance1560987595RCV000699059; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252260012260015:g.226001G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.461A>G (p.Glu154Gly)6389SDHAUncertain significance777873911RCV000570801|RCV000691114; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226002226002NC_000005.9:g.226002A>GClinGen:CA3172854C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.464A>G (p.Asn155Ser)6389SDHAUncertain significance749824479RCV000530738|RCV001022840|RCV002293455|RCV003476314; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:6136425226005226005NC_000005.9:g.226005A>GClinGen:CA3172855C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp)6389SDHAUncertain significance569384870RCV000473140|RCV002244940|RCV002329085|RCV002496791; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:6141655226007226007NC_000005.9:g.226007T>GClinGen:CA16611931C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.467dup (p.Tyr156Ter)6389SDHAPathogenic2126549281RCV001877276; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226007226008226007-
NM_004168.4(SDHA):c.466T>C (p.Tyr156His)6389SDHAUncertain significance-1RCV002615062; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226007226007NC_000005.9:g.226007T>C-
NM_004168.4(SDHA):c.467A>T (p.Tyr156Phe)6389SDHAUncertain significance774589410RCV001992540; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226008226008226008-
NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter)6389SDHAPathogenic989318548RCV001063216; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252260092260095:g.226009T>G-
NM_004168.4(SDHA):c.468T>C (p.Tyr156=)6389SDHALikely benign989318548RCV001501940; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226009226009226009-
NM_004168.4(SDHA):c.469G>A (p.Gly157Ser)6389SDHAUncertain significance1734987233RCV001053677; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852260102260105:g.226010G>A-
NM_004168.4(SDHA):c.471C>T (p.Gly157=)6389SDHALikely benign1553997722RCV000649444|RCV001022948; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226012226012NC_000005.9:g.226012C>TClinGen:CA442691091C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.472A>G (p.Met158Val)6389SDHAUncertain significance2126549328RCV001891357|RCV003382693; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226013226013226013-
NM_004168.4(SDHA):c.474G>A (p.Met158Ile)6389SDHAUncertain significance-1RCV003023292; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226015226015NC_000005.9:g.226015G>A-
NM_004168.4(SDHA):c.476C>T (p.Pro159Leu)6389SDHAUncertain significance759827541RCV000219502|RCV000649409|RCV003475022; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452260172260175:g.226017C>TClinGen:CA3172858C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.477G>A (p.Pro159=)6389SDHALikely benign771741537RCV000538620|RCV002341428; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226018226018NC_000005.9:g.226018G>AClinGen:CA3172859C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.477G>T (p.Pro159=)6389SDHALikely benign771741537RCV000649476|RCV001023031; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252260182260185:g.226018G>TClinGen:CA442691093C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.478T>C (p.Phe160Leu)6389SDHAUncertain significance775074528RCV001921634; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226019226019226019-
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)6389SDHAConflicting interpretations of pathogenicity1060503711RCV000467274|RCV000662662|RCV000853253|RCV002341056|RCV003476125; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MON5226021226021NC_000005.9:g.226021T>GClinGen:CA16611826C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.480T>C (p.Phe160=)6389SDHALikely benign1060503711RCV001228166|RCV003163775; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252260212260215:g.226021T>C-
NM_004168.4(SDHA):c.482G>A (p.Ser161Asn)6389SDHAUncertain significance2126549411RCV001992127; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226023226023226023-
NM_004168.4(SDHA):c.483C>T (p.Ser161=)6389SDHALikely benign2126549418RCV001490486; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226024226024226024-
NM_004168.4(SDHA):c.484del (p.Arg162fs)6389SDHAPathogenic/Likely pathogenic1734988578RCV001218027|RCV002497742; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MON52260252260255:g.226025_226025del-
NM_004168.4(SDHA):c.484A>G (p.Arg162Gly)6389SDHAUncertain significance1579385526RCV001986425; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226025226025226025-
NM_004168.4(SDHA):c.485G>C (p.Arg162Thr)6389SDHAUncertain significance1579385540RCV000819046; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252260262260265:g.226026G>C-
NM_004168.4(SDHA):c.486A>G (p.Arg162=)6389SDHALikely benign1479127918RCV000978609|RCV002337021; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252260272260275:g.226027A>G-
NM_004168.4(SDHA):c.488C>T (p.Thr163Ile)6389SDHAUncertain significance375067326RCV001326412|RCV002341676|RCV003152761; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226029226029226029-
NM_004168.4(SDHA):c.488C>A (p.Thr163Asn)6389SDHAUncertain significance375067326RCV001970693; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226029226029226029-
NM_004168.4(SDHA):c.492A>G (p.Glu164=)6389SDHALikely benign-1RCV002595811|RCV003349042; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226033226033-
NM_004168.4(SDHA):c.493G>A (p.Asp165Asn)6389SDHAUncertain significance1734989215RCV001365965|RCV002341779; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226034226034226034-
NM_004168.4(SDHA):c.494A>G (p.Asp165Gly)6389SDHAUncertain significance1734989377RCV001219829|RCV003163694; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MeSH:D030342,MedGen:C095012352260352260355:g.226035A>G-
NM_004168.4(SDHA):c.494A>T (p.Asp165Val)6389SDHAUncertain significance-1RCV002908062; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226035226035NC_000005.9:g.226035A>T-
NM_004168.4(SDHA):c.496G>A (p.Gly166Arg)6389SDHAUncertain significance1060503712RCV000470736; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226037226037NC_000005.9:g.226037G>AClinGen:CA16611865C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.497G>A (p.Gly166Glu)6389SDHAUncertain significance-1RCV002609894; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226038226038NC_000005.9:g.226038G>A-
NM_004168.4(SDHA):c.498G>T (p.Gly166=)6389SDHAUncertain significance1579385582RCV000813838; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252260392260395:g.226039G>T-
NM_004168.4(SDHA):c.498G>A (p.Gly166=)6389SDHALikely benign-1RCV002342942|RCV003096554; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226039226039-
NM_004168.4(SDHA):c.499A>C (p.Lys167Gln)6389SDHAUncertain significance763578369RCV000707259|RCV002334396; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252260402260405:g.226040A>C-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.502A>G (p.Ile168Val)6389SDHAUncertain significance1734989945RCV001325409|RCV002341675; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226043226043226043-
NM_004168.4(SDHA):c.503T>C (p.Ile168Thr)6389SDHAUncertain significance1553997748RCV000649435; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252260442260445:g.226044T>CClinGen:CA359010058C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.505T>C (p.Tyr169His)6389SDHAUncertain significance1553997754RCV000649448|RCV002334185; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252260462260465:g.226046T>CClinGen:CA359010071C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.506A>G (p.Tyr169Cys)6389SDHAUncertain significance-1RCV002335825|RCV003096600; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226047226047226047-
NM_004168.4(SDHA):c.508C>T (p.Gln170Ter)6389SDHAPathogenic1579385645RCV000823267; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252260492260495:g.226049C>T-
NM_004168.4(SDHA):c.508C>A (p.Gln170Lys)6389SDHAUncertain significance1579385645RCV002023950; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226049226049226049-
NM_004168.4(SDHA):c.509A>T (p.Gln170Leu)6389SDHAUncertain significance2126549625RCV002008912; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226050226050226050-
NM_004168.4(SDHA):c.510G>C (p.Gln170His)6389SDHAUncertain significance1579385651RCV000820842|RCV002257988; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252260512260515:g.226051G>C-
NM_004168.4(SDHA):c.511C>T (p.Arg171Cys)6389SDHAUncertain significance776193478RCV001237617|RCV001799748|RCV002563895; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MeSH:D030342,Med52260522260525:g.226052C>T-
NM_004168.4(SDHA):c.512G>A (p.Arg171His)6389SDHAUncertain significance587782076RCV000130572|RCV000466700|RCV000512840|RCV001153308|RCV001153309|RCV001153307|RCV001799623|RCV003474764; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:25600052260532260535:g.226053G>AClinGen:CA166671C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.512G>C (p.Arg171Pro)6389SDHAUncertain significance-1RCV002344218|RCV003096626; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226053226053226053-
NM_004168.4(SDHA):c.513T>C (p.Arg171=)6389SDHABenign/Likely benign765157205RCV000226781|RCV000412315|RCV000441092|RCV001023603; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,5226054226054NC_000005.9:g.226054T>CClinGen:CA3172864C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.513T>A (p.Arg171=)6389SDHALikely benign-1RCV002889357; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226054226054-
NM_004168.4(SDHA):c.514G>A (p.Ala172Thr)6389SDHAUncertain significance1734991441RCV001214432; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252260552260555:g.226055G>A-
NM_004168.4(SDHA):c.515C>T (p.Ala172Val)6389SDHAUncertain significance1734991593RCV001933975; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226056226056226056-
NM_004168.4(SDHA):c.515C>A (p.Ala172Glu)6389SDHAUncertain significance-1RCV002299585; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226056226056226056-
NM_004168.4(SDHA):c.516A>G (p.Ala172=)6389SDHALikely benign181278759RCV000464972|RCV000572674; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226057226057NC_000005.9:g.226057A>GClinGen:CA3172865C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.523G>A (p.Gly175Arg)6389SDHAUncertain significance753004001RCV000801943|RCV002336612; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252260642260645:g.226064G>A-
NM_004168.4(SDHA):c.523G>C (p.Gly175Arg)6389SDHAUncertain significance753004001RCV001023787|RCV001337582; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252260642260645:g.226064G>C-
NM_004168.4(SDHA):c.525A>G (p.Gly175=)6389SDHALikely benign2126549734RCV001469556; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226066226066226066-
NM_004168.4(SDHA):c.528G>C (p.Gln176His)6389SDHAUncertain significance769454045RCV001364421; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226069226069226069-
NM_004168.4(SDHA):c.530G>C (p.Ser177Thr)6389SDHAUncertain significance1553997783RCV000649441|RCV002343343; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252260712260715:g.226071G>CClinGen:CA359010226C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.530G>A (p.Ser177Asn)6389SDHAUncertain significance1553997783RCV001296741|RCV002350524; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226071226071226071-
NM_004168.4(SDHA):c.530G>T (p.Ser177Ile)6389SDHAUncertain significance-1RCV002653811; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226071226071NC_000005.9:g.226071G>T-
NM_004168.4(SDHA):c.531C>G (p.Ser177Arg)6389SDHAUncertain significance-1RCV002615281; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226072226072NC_000005.9:g.226072C>G-
NM_004168.4(SDHA):c.534C>T (p.Leu178=)6389SDHALikely benign749329370RCV000229841|RCV002347888; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252260752260755:g.226075C>TClinGen:CA3172871C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.537G>A (p.Lys179=)6389SDHALikely benign1207914111RCV000938432|RCV002346131; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252260782260785:g.226078G>A-
NM_004168.4(SDHA):c.540T>C (p.Phe180=)6389SDHALikely benign2126549842RCV001499962; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226081226081226081-
NM_004168.4(SDHA):c.541G>C (p.Gly181Arg)6389SDHAUncertain significance1305547879RCV002009805|RCV003170333; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226082226082226082-
NM_004168.4(SDHA):c.545A>G (p.Lys182Arg)6389SDHAUncertain significance-1RCV002644218; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226086226086NC_000005.9:g.226086A>G-
NM_004168.4(SDHA):c.546G>A (p.Lys182=)6389SDHALikely benign757707693RCV000649488|RCV002343346; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252260872260875:g.226087G>AClinGen:CA3172873C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.548G>A (p.Gly183Asp)6389SDHAUncertain significance1734993975RCV001219211; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252260892260895:g.226089G>A-
NM_004168.4(SDHA):c.549C>T (p.Gly183=)6389SDHAConflicting interpretations of pathogenicity61733344RCV000239367|RCV000291747|RCV000339713|RCV000394814|RCV000418051|RCV000571465|RCV001800618|RCV003316320; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:01005226090226090NC_000005.9:g.226090C>TClinGen:CA3172874C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg)6389SDHABenign/Likely benign148246073RCV000343277|RCV000304507|RCV000390055|RCV000514856|RCV000575599|RCV000607544|RCV001080182|RCV003316148; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140165226091226091NC_000005.9:g.226091G>AClinGen:CA348484C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.551G>C (p.Gly184Ala)6389SDHAUncertain significance1579385819RCV001024215|RCV001369871; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252260922260925:g.226092G>C-
NM_004168.4(SDHA):c.551G>A (p.Gly184Glu)6389SDHAUncertain significance1579385819RCV001305199|RCV003135944|RCV003294234; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226092226092226092-
NM_004168.4(SDHA):c.552G>A (p.Gly184=)6389SDHALikely benign147444427RCV000871614|RCV002346006; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252260932260935:g.226093G>A-
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)6389SDHAPathogenic775827529RCV000575535|RCV000702668|RCV003159959|RCV003476321; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:61364252260942260945:g.226094C>TClinGen:CA3172876C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.553C>G (p.Gln185Glu)6389SDHAUncertain significance775827529RCV001024247|RCV001070085|RCV003473597; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452260942260945:g.226094C>G-
NM_004168.4(SDHA):c.554dup (p.Ala186fs)6389SDHAPathogenic/Likely pathogenic1173940446RCV001384161|RCV002350731|RCV003132489; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005226094226095226094-
NM_004168.4(SDHA):c.556G>T (p.Ala186Ser)6389SDHAUncertain significance-1RCV002815599|RCV003274043; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226097226097NC_000005.9:g.226097G>T-
NM_004168.4(SDHA):c.557C>T (p.Ala186Val)6389SDHAUncertain significance2126550013RCV001981081|RCV002346254; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226098226098226098-
NM_004168.4(SDHA):c.558C>T (p.Ala186=)6389SDHAConflicting interpretations of pathogenicity199618059RCV000649483|RCV001155907|RCV001155908|RCV001155909|RCV002343344; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0005226099226099NC_000005.9:g.226099C>TClinGen:CA3172877C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.559C>T (p.His187Tyr)6389SDHAUncertain significance1579385898RCV000801803|RCV002507389; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO52261002261005:g.226100C>T-
NM_004168.4(SDHA):c.560A>G (p.His187Arg)6389SDHAUncertain significance1236616384RCV001303050; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226101226101226101-
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)6389SDHALikely pathogenic553257776RCV000555353|RCV000571189|RCV003335474; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226103226103NC_000005.9:g.226103C>TClinGen:CA3172879C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.562C>A (p.Arg188=)6389SDHALikely benign553257776RCV001437405; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226103226103226103-
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)6389SDHAConflicting interpretations of pathogenicity139881415RCV000518854|RCV000531381|RCV001024356|RCV003335449|RCV003330742; NMedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:61416552261042261045:g.226104G>AClinGen:CA3172880C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.564G>A (p.Arg188=)6389SDHALikely benign1579385933RCV001024366|RCV001493597; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252261052261055:g.226105G>A-
NM_004168.4(SDHA):c.565T>C (p.Cys189Arg)6389SDHAUncertain significance1734996495RCV001309048; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226106226106226106-
NM_004168.4(SDHA):c.568T>C (p.Cys190Arg)6389SDHAUncertain significance908267345RCV001043245|RCV002258097; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252261092261095:g.226109T>C-
NM_004168.4(SDHA):c.568T>A (p.Cys190Ser)6389SDHAUncertain significance908267345RCV002023582; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226109226109226109-
NM_004168.4(SDHA):c.570C>T (p.Cys190=)6389SDHALikely benign1060505008RCV001394415|RCV002350047; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226111226111NC_000005.9:g.226111C>TClinGen:CA16611936C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.571T>C (p.Cys191Arg)6389SDHAUncertain significance2126550176RCV001972911; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226112226112226112-
NM_004168.4(SDHA):c.572G>A (p.Cys191Tyr)6389SDHAUncertain significance1393298155RCV001339874|RCV003169607; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226113226113226113-
NM_004168.4(SDHA):c.572G>C (p.Cys191Ser)6389SDHAUncertain significance1393298155RCV001373494|RCV003473889; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545226113226113226113-
NM_004168.4(SDHA):c.573T>C (p.Cys191=)6389SDHALikely benign765111856RCV000940696|RCV001024470; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252261142261145:g.226114T>C-
NM_004168.4(SDHA):c.578C>G (p.Ala193Gly)6389SDHAUncertain significance1734997662RCV001040886; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852261192261195:g.226119C>G-
NM_004168.4(SDHA):c.578C>T (p.Ala193Val)6389SDHAUncertain significance1734997662RCV001036295; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852261192261195:g.226119C>T-
NM_004168.4(SDHA):c.582T>C (p.Asp194=)6389SDHALikely benign-1RCV002917946; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226123226123-
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)6389SDHAUncertain significance1337777456RCV001060414|RCV001157610|RCV001157611|RCV001155910|RCV003473672; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO52261242261245:g.226124C>T-
NM_004168.4(SDHA):c.583C>G (p.Arg195Gly)6389SDHAUncertain significance1337777456RCV002018269; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226124226124226124-
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln)6389SDHAUncertain significance762956849RCV000544157|RCV002358584|RCV002491086; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; 5226125226125NC_000005.9:g.226125G>AClinGen:CA3172883C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.585G>C (p.Arg195=)6389SDHALikely benign766339992RCV000868956|RCV001024612|RCV002501285; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M52261262261265:g.226126G>C-
NM_004168.4(SDHA):c.585G>A (p.Arg195=)6389SDHALikely benign766339992RCV001414234; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226126226126226126-
NM_004168.4(SDHA):c.586A>G (p.Thr196Ala)6389SDHAUncertain significance-1RCV002717387; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226127226127NC_000005.9:g.226127A>G-
NM_004168.4(SDHA):c.587C>T (p.Thr196Ile)6389SDHAUncertain significance1560987863RCV000698681; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252261282261285:g.226128C>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.588T>C (p.Thr196=)6389SDHALikely benign1278276778RCV001463741|RCV002359034; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226129226129226129-
NM_004168.4(SDHA):c.589G>C (p.Gly197Arg)6389SDHAUncertain significance1560987881RCV000692173; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226130226130NC_000005.9:g.226130G>C-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.589G>A (p.Gly197Ser)6389SDHAUncertain significance1560987881RCV001909660; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226130226130226130-
NM_004168.4(SDHA):c.590G>A (p.Gly197Asp)6389SDHAUncertain significance1579386052RCV000797002; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252261312261315:g.226131G>A-
NM_004168.4(SDHA):c.591C>G (p.Gly197=)6389SDHALikely benign-1RCV002889464; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226132226132-
NM_004168.4(SDHA):c.594C>T (p.His198=)6389SDHALikely benign1579386061RCV001409537|RCV002258054; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252261352261355:g.226135C>T-
NM_004168.4(SDHA):c.595T>A (p.Ser199Thr)6389SDHAUncertain significance770407681RCV000800619|RCV001024725|RCV003472363; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452261362261365:g.226136T>A-
NM_004168.4(SDHA):c.596C>T (p.Ser199Leu)6389SDHAUncertain significance878854633RCV000232616|RCV002354654; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252261372261375:g.226137C>TClinGen:CA10582419C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.597G>A (p.Ser199=)6389SDHABenign/Likely benign141874250RCV000469362|RCV000569336; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226138226138NC_000005.9:g.226138G>AClinGen:CA3172886C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.597G>T (p.Ser199=)6389SDHALikely benign141874250RCV001432038; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226138226138226138-
NM_004168.4(SDHA):c.598C>T (p.Leu200=)6389SDHALikely benign764307917RCV000475350|RCV000568755; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226139226139NC_000005.9:g.226139C>TClinGen:CA3172887C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.598C>A (p.Leu200Ile)6389SDHAUncertain significance764307917RCV001945888|RCV003167297|RCV003475179; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545226139226139226139-
NM_004168.4(SDHA):c.600A>G (p.Leu200=)6389SDHABenign/Likely benign201967413RCV000239373|RCV000572465|RCV002479952; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN1693745226141226141NC_000005.9:g.226141A>GClinGen:CA3172888C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.602T>C (p.Leu201Ser)6389SDHAUncertain significance150646390RCV001058277; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252261432261435:g.226143T>C-
NM_004168.4(SDHA):c.603G>A (p.Leu201=)6389SDHALikely benign2126550482RCV001483727|RCV002359087; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226144226144226144-
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala)6389SDHAUncertain significance373340696RCV000458356|RCV000575357|RCV002481480|RCV003128946|RCV003476123; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M5226148226148NC_000005.9:g.226148A>GClinGen:CA3172890C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.608C>T (p.Thr203Ile)6389SDHAUncertain significance1735001122RCV001218178|RCV003473769; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452261492261495:g.226149C>T-
NM_004168.4(SDHA):c.608C>G (p.Thr203Ser)6389SDHAUncertain significance1735001122RCV001879242; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226149226149226149-
NM_004168.4(SDHA):c.612A>G (p.Leu204=)6389SDHALikely benign1735001336RCV001864725; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226153226153226153-
NM_004168.4(SDHA):c.613T>C (p.Tyr205His)6389SDHAUncertain significance61754481RCV000471598|RCV000575607|RCV000764602|RCV001848822|RCV003476119; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MO5226154226154NC_000005.9:g.226154T>CClinGen:CA3172891C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)6389SDHAPathogenic876658486RCV000221025|RCV000798190|RCV003316203; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226156226156NC_000005.9:g.226156T>AClinGen:CA10578627C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.615T>C (p.Tyr205=)6389SDHALikely benign876658486RCV002202864; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226156226156226156-
NM_004168.4(SDHA):c.619A>C (p.Arg207=)6389SDHABenign6555055RCV000118319|RCV000162480|RCV000298743|RCV000263653|RCV000355926|RCV001509668|RCV001705862|RCV003315683; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:290752261602261605:g.226160A>CClinGen:CA155156C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs)6389SDHAPathogenic1579386206RCV000818060; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252261602261615:g.226161_226161del-
NM_004168.4(SDHA):c.619A>T (p.Arg207Trp)6389SDHAUncertain significance6555055RCV001046070; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852261602261605:g.226160A>T-
NM_004168.4(SDHA):c.619A>G (p.Arg207Gly)6389SDHAUncertain significance6555055RCV001301154; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226160226160226160-
NM_004168.4(SDHA):c.619_620delinsCA (p.Arg207Gln)6389SDHAUncertain significance2126550631RCV001890610|RCV002359349; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625226160226161226160-
NM_004168.4(SDHA):c.620G>A (p.Arg207Lys)6389SDHAUncertain significance780411478RCV001202794|RCV003163526; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252261612261615:g.226161G>A-
NM_004168.4(SDHA):c.620G>C (p.Arg207Thr)6389SDHAUncertain significance780411478RCV001242941; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252261612261615:g.226161G>C-
NM_004168.4(SDHA):c.621G>A (p.Arg207=)6389SDHAUncertain significance2126550683RCV001906920; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226162226162226162-
NM_004168.4(SDHA):c.621+1G>A6389SDHALikely pathogenic1735002961RCV001050872; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852261632261635:g.226163G>A-
NM_004168.4(SDHA):c.621+8C>T6389SDHALikely benign201091275RCV000227518; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252261702261705:g.226170C>TClinGen:CA3172893C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.621+9G>A6389SDHALikely benign1060505005RCV000470380; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226171226171NC_000005.9:g.226171G>AClinGen:CA16612052C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.621+9G>C6389SDHALikely benign-1RCV002780364; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226171226171NC_000005.9:g.226171G>C-
NM_004168.4(SDHA):c.621+10C>T6389SDHALikely benign1458669735RCV001481386; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226172226172226172-
NM_004168.4(SDHA):c.621+11C>A6389SDHALikely benign2126550755RCV002176189; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226173226173226173-
NM_004168.4(SDHA):c.621+11C>T6389SDHALikely benign-1RCV002953299; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226173226173NC_000005.9:g.226173C>T-
NM_004168.4(SDHA):c.621+12C>T6389SDHALikely benign-1RCV003110248; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226174226174NC_000005.9:g.226174C>T-
NM_004168.4(SDHA):c.621+13C>T6389SDHALikely benign2126550780RCV002156100; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226175226175226175-
NM_004168.4(SDHA):c.621+14C>T6389SDHALikely benign776301796RCV002139995; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226176226176226176-
NM_004168.4(SDHA):c.621+15G>A6389SDHALikely benign747737117RCV002196836; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226177226177226177-
NM_004168.4(SDHA):c.621+15G>T6389SDHALikely benign-1RCV002894395; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226177226177NC_000005.9:g.226177G>T-
NM_004168.4(SDHA):c.621+16T>C6389SDHALikely benign769390635RCV000613395|RCV002063187; NMedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852261782261785:g.226178T>CClinGen:CA3172897CN169374 not specified;
NM_004168.4(SDHA):c.621+17C>T6389SDHALikely benign2126550811RCV002195398; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226179226179226179-
NM_004168.4(SDHA):c.621+18C>T6389SDHALikely benign1735004595RCV002074489; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226180226180226180-
NM_004168.4(SDHA):c.621+18C>G6389SDHALikely benign-1RCV002770699; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226180226180NC_000005.9:g.226180C>G-
NM_004168.4(SDHA):c.621+19A>T6389SDHALikely benign772849135RCV002167508; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226181226181226181-
NM_004168.4(SDHA):c.621+19A>G6389SDHALikely benign772849135RCV002139657; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085226181226181226181-
NM_004168.4(SDHA):c.621+20C>T6389SDHALikely benign-1RCV002895260; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725226182226182NC_000005.9:g.226182C>T-
NM_004168.4(SDHA):c.622-7_622-4del6389SDHALikely benign2126557982RCV001456681; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085228289228292228288-
NM_004168.4(SDHA):c.622-8del6389SDHALikely benign777777373RCV000908417; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852282902282905:g.228290_228290del-
NM_004168.4(SDHA):c.622-8T>C6389SDHAConflicting interpretations of pathogenicity370714378RCV000233358|RCV000411772|RCV000427201; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C366190052282922282925:g.228292T>CClinGen:CA3172923C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.622-7C>T6389SDHALikely benign759371428RCV000951952|RCV000987494; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852282932282935:g.228293C>T-
NM_004168.4(SDHA):c.622-5T>C6389SDHAConflicting interpretations of pathogenicity878854634RCV000229170|RCV000569503; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228295228295NC_000005.9:g.228295T>CClinGen:CA10582420C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.622-4T>C6389SDHAConflicting interpretations of pathogenicity1579390820RCV000884513|RCV002363325; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252282962282965:g.228296T>C-
NM_004168.4(SDHA):c.622-1G>A6389SDHALikely pathogenic1285132774RCV000649416; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228299228299NC_000005.9:g.228299G>AClinGen:CA359010778C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.622T>C (p.Ser208Pro)6389SDHAUncertain significance-1RCV003079058; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228300228300NC_000005.9:g.228300T>C-
NM_004168.4(SDHA):c.625C>G (p.Leu209Val)6389SDHAUncertain significance-1RCV002838706; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228303228303NC_000005.9:g.228303C>G-
NM_004168.4(SDHA):c.626T>C (p.Leu209Pro)6389SDHAUncertain significance1579390858RCV001025064|RCV001369092; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852283042283045:g.228304T>C-
NM_004168.4(SDHA):c.627G>A (p.Leu209=)6389SDHALikely benign149821224RCV000458176|RCV002367620; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228305228305NC_000005.9:g.228305G>AClinGen:CA3172925C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)6389SDHAPathogenic/Likely pathogenic775143272RCV000649430|RCV001025088|RCV001799694|RCV003472044; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D05228306228306NC_000005.9:g.228306C>TClinGen:CA3172926C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln)6389SDHAUncertain significance762108779RCV000687867|RCV001025100; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228307228307NC_000005.9:g.228307G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.630A>G (p.Arg210=)6389SDHAConflicting interpretations of pathogenicity1579390913RCV001025116|RCV001045034; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852283082283085:g.228308A>G-
NM_004168.4(SDHA):c.630A>T (p.Arg210=)6389SDHALikely benign1579390913RCV001418168|RCV002368310; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228308228308228308-
NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys)6389SDHAUncertain significance1235961098RCV000793019|RCV002360914; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252283102283105:g.228310A>G-
NM_004168.4(SDHA):c.632A>T (p.Tyr211Phe)6389SDHAUncertain significance1235961098RCV001224819|RCV002366013; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252283102283105:g.228310A>T-
NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter)6389SDHAPathogenic1307665893RCV002037896|RCV002361297; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228311228311228311-
NM_004168.4(SDHA):c.633T>C (p.Tyr211=)6389SDHALikely benign1307665893RCV002167974|RCV002361434; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228311228311228311-
NM_004168.4(SDHA):c.635A>G (p.Asp212Gly)6389SDHAUncertain significance750531440RCV001217329; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252283132283135:g.228313A>G-
NM_004168.4(SDHA):c.638C>A (p.Thr213Asn)6389SDHAUncertain significance766421069RCV000472577; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228316228316NC_000005.9:g.228316C>AClinGen:CA16611866C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.638C>T (p.Thr213Ile)6389SDHAUncertain significance766421069RCV001236994; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252283162283165:g.228316C>T-
NM_004168.4(SDHA):c.640A>G (p.Ser214Gly)6389SDHAUncertain significance752144637RCV000706981|RCV002360833; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228318228318NC_000005.9:g.228318A>G-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.641G>A (p.Ser214Asn)6389SDHAUncertain significance755432673RCV000571276|RCV001044490; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252283192283195:g.228319G>AClinGen:CA3172933C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.644_645del (p.Tyr215fs)6389SDHAPathogenic1560989804RCV000690156; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228321228322NC_000005.9:g.228322_228323del-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys)6389SDHAUncertain significance781660628RCV000808922|RCV002363084; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252283222283225:g.228322A>G-
NM_004168.4(SDHA):c.645T>C (p.Tyr215=)6389SDHALikely benign-1RCV002361895|RCV003098256; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228323228323-
NM_004168.4(SDHA):c.646T>C (p.Phe216Leu)6389SDHAUncertain significance1735162987RCV001212719; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252283242283245:g.228324T>C-
NM_004168.4(SDHA):c.649G>C (p.Val217Leu)6389SDHAUncertain significance1735163272RCV001039092; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852283272283275:g.228327G>C-
NM_004168.4(SDHA):c.653A>T (p.Glu218Val)6389SDHAUncertain significance1735163544RCV001218571; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252283312283315:g.228331A>T-
NM_004168.4(SDHA):c.654G>T (p.Glu218Asp)6389SDHAUncertain significance-1RCV002301576; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228332228332228332-
NM_004168.4(SDHA):c.662C>G (p.Ala221Gly)6389SDHAUncertain significance1735163984RCV001340648; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228340228340228340-
NM_004168.4(SDHA):c.663C>T (p.Ala221=)6389SDHALikely benign1579391069RCV001418916|RCV003307727; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252283412283415:g.228341C>T-
NM_004168.4(SDHA):c.663C>G (p.Ala221=)6389SDHALikely benign1579391069RCV002207092; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228341228341228341-
NM_004168.4(SDHA):c.664T>G (p.Leu222Val)6389SDHAUncertain significance1553998191RCV000545927|RCV002367927; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228342228342NC_000005.9:g.228342T>GClinGen:CA359010887C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.665T>C (p.Leu222Ser)6389SDHAUncertain significance-1RCV002997031; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228343228343NC_000005.9:g.228343T>C-
NM_004168.4(SDHA):c.667del (p.Asp223fs)6389SDHAPathogenic/Likely pathogenic587782077RCV000130573|RCV000527052|RCV001008075|RCV003474765; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:61364252283442283445:g.228344_228344delClinGen:CA166673C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.666G>T (p.Leu222Phe)6389SDHAUncertain significance778256616RCV000463550|RCV002293444; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:CN5172025228344228344NC_000005.9:g.228344G>TClinGen:CA3172940C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr)6389SDHAUncertain significance1579391108RCV000795749; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252283452283455:g.228345G>T-
NM_004168.4(SDHA):c.667G>C (p.Asp223His)6389SDHAUncertain significance1579391108RCV001025527|RCV001341508; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852283452283455:g.228345G>C-
NM_004168.4(SDHA):c.668A>C (p.Asp223Ala)6389SDHAUncertain significance2126558436RCV002030099|RCV003164013; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228346228346228346-
NM_004168.4(SDHA):c.670C>T (p.Leu224Phe)6389SDHAUncertain significance-1RCV002367197|RCV003103323|RCV003475354; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545228348228348228348-
NM_004168.4(SDHA):c.672C>T (p.Leu224=)6389SDHALikely benign2126558458RCV001426749; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228350228350228350-
NM_004168.4(SDHA):c.673C>T (p.Leu225=)6389SDHALikely benign1579391116RCV000924942|RCV002372570; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252283512283515:g.228351C>T-
NM_004168.4(SDHA):c.674T>C (p.Leu225Pro)6389SDHAUncertain significance2126558482RCV001995465; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228352228352228352-
NM_004168.4(SDHA):c.675G>C (p.Leu225=)6389SDHALikely benign1367248054RCV000925912|RCV002372572; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252283532283535:g.228353G>C-
NM_004168.4(SDHA):c.675G>A (p.Leu225=)6389SDHALikely benign1367248054RCV001025621|RCV001395754; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852283532283535:g.228353G>A-
NM_004168.4(SDHA):c.676A>T (p.Met226Leu)6389SDHAUncertain significance1579391135RCV000796563; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252283542283545:g.228354A>T-
NM_004168.4(SDHA):c.677T>C (p.Met226Thr)6389SDHAUncertain significance1735165932RCV001299483; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228355228355228355-
NM_004168.4(SDHA):c.677T>A (p.Met226Lys)6389SDHAUncertain significance-1RCV002993816; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228355228355NC_000005.9:g.228355T>A-
NM_004168.4(SDHA):c.678G>A (p.Met226Ile)6389SDHAUncertain significance745884899RCV000687038; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228356228356NC_000005.9:g.228356G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.682A>T (p.Asn228Tyr)6389SDHAUncertain significance2126558556RCV001908935; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085228360228360228360-
NM_004168.4(SDHA):c.683A>G (p.Asn228Ser)6389SDHAUncertain significance2126558564RCV001894346|RCV002256852; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228361228361228361-
NM_004168.4(SDHA):c.684T>C (p.Asn228=)6389SDHABenign2115272RCV000118320|RCV000162481|RCV000311792|RCV000276689|RCV000368927|RCV001705863|RCV001509669|RCV003315684; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5052283622283625:g.228362T>CClinGen:CA155158C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.688del (p.Glu230fs)6389SDHAPathogenic/Likely pathogenic1553998199RCV000551986|RCV000566076|RCV000853371|RCV001783056|RCV002491084|RCV003476305; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|5228363228363NC_000005.9:g.228366delClinGen:CA658657421C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.687G>A (p.Gly229=)6389SDHALikely benign775359678RCV000865278|RCV002372419; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252283652283655:g.228365G>A-
NM_004168.4(SDHA):c.687G>C (p.Gly229=)6389SDHALikely benign775359678RCV001495131; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228365228365228365-
NM_004168.4(SDHA):c.688G>C (p.Glu230Gln)6389SDHAUncertain significance1436777353RCV000649449|RCV002369739|RCV003472046; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545228366228366NC_000005.9:g.228366G>CClinGen:CA359010941C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.688G>A (p.Glu230Lys)6389SDHAUncertain significance-1RCV002942789|RCV003308357; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228366228366NC_000005.9:g.228366G>A-
NM_004168.4(SDHA):c.693C>T (p.Cys231=)6389SDHALikely benign-1RCV003082552; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228371228371-
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)6389SDHAUncertain significance878854635RCV000231015|RCV000764603|RCV001025834|RCV003329265; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO5228372228372NC_000005.9:g.228372C>TClinGen:CA10582421C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.695G>A (p.Arg232His)6389SDHAUncertain significance1060503708RCV000473347|RCV001025841; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228373228373NC_000005.9:g.228373G>AClinGen:CA16611867C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.696T>G (p.Arg232=)6389SDHALikely benign-1RCV002848397; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228374228374-
NM_004168.4(SDHA):c.697G>A (p.Gly233Ser)6389SDHAUncertain significance2126558729RCV001976993|RCV003170418; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228375228375228375-
NM_004168.4(SDHA):c.698G>T (p.Gly233Val)6389SDHAUncertain significance878854636RCV000233811|RCV001799644|RCV002372275; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:001552283762283765:g.228376G>TClinGen:CA10582422C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.698G>A (p.Gly233Asp)6389SDHAUncertain significance878854636RCV001991733; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228376228376228376-
NM_004168.4(SDHA):c.699del (p.Val234fs)6389SDHAPathogenic1175771583RCV001240188; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252283772283775:g.228377_228377del-
NM_004168.4(SDHA):c.700G>A (p.Val234Ile)6389SDHAUncertain significance2126558764RCV001952662; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228378228378228378-
NM_004168.4(SDHA):c.702C>T (p.Val234=)6389SDHALikely benign1205748459RCV002097689; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085228380228380228380-
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)6389SDHAUncertain significance144513891RCV000203953|RCV000410184|RCV000562815|RCV001197548|RCV001582713|RCV002478742; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|52283822283825:g.228382T>CClinGen:CA348232C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.705C>T (p.Ile235=)6389SDHALikely benign549892491RCV000570641|RCV000604923|RCV000649478; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252283832283835:g.228383C>TClinGen:CA3172945C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.706G>A (p.Ala236Thr)6389SDHAUncertain significance774160524RCV000558609|RCV002367928|RCV003476315; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452283842283845:g.228384G>AClinGen:CA3172946C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.707C>T (p.Ala236Val)6389SDHAUncertain significance1060503703RCV000458180|RCV002365668|RCV002469160; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005228385228385NC_000005.9:g.228385C>TClinGen:CA16611938C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.708A>G (p.Ala236=)6389SDHALikely benign774277601RCV002171005; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228386228386228386-
NM_004168.4(SDHA):c.709C>T (p.Leu237=)6389SDHALikely benign1735173554RCV001399848|RCV002368256; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228387228387228387-
NM_004168.4(SDHA):c.709C>G (p.Leu237Val)6389SDHAUncertain significance-1RCV003048559|RCV003274168; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228387228387NC_000005.9:g.228387C>G-
NM_004168.4(SDHA):c.712T>G (p.Cys238Gly)6389SDHAUncertain significance1579391373RCV001026073|RCV001222388; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852283902283905:g.228390T>G-
NM_004168.4(SDHA):c.713G>T (p.Cys238Phe)6389SDHAUncertain significance1168458733RCV000534290; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085228391228391NC_000005.9:g.228391G>TClinGen:CA359011016C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.713G>C (p.Cys238Ser)6389SDHAUncertain significance1168458733RCV002030218; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228391228391228391-
NM_004168.4(SDHA):c.714C>T (p.Cys238=)6389SDHALikely benign-1RCV002917959; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228392228392-
NM_004168.4(SDHA):c.715A>G (p.Ile239Val)6389SDHAUncertain significance760106352RCV000461851|RCV000561650; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228393228393NC_000005.9:g.228393A>GClinGen:CA3172948C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.715A>C (p.Ile239Leu)6389SDHAUncertain significance760106352RCV001325600|RCV002366202; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228393228393228393-
NM_004168.4(SDHA):c.715A>T (p.Ile239Leu)6389SDHAUncertain significance760106352RCV001872132; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085228393228393228393-
NM_004168.4(SDHA):c.716T>C (p.Ile239Thr)6389SDHAUncertain significance1466069757RCV001982370|RCV003434368; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C36619005228394228394228394-
NM_004168.4(SDHA):c.716T>G (p.Ile239Arg)6389SDHAUncertain significance-1RCV003475525|RCV003106870|RCV003420549; NMONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|5228394228394NC_000005.9:g.228394T>G-
NM_004168.4(SDHA):c.717A>T (p.Ile239=)6389SDHALikely benign-1RCV003082869; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228395228395-
NM_004168.4(SDHA):c.720_722del (p.Glu240del)6389SDHAUncertain significance1560990000RCV000688908; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228396228398NC_000005.9:g.228398_228400del-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.718G>A (p.Glu240Lys)6389SDHAUncertain significance1041946RCV001049666; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852283962283965:g.228396G>A-
NM_004168.4(SDHA):c.722_726del (p.Asp241fs)6389SDHAPathogenic1553998229RCV000649431|RCV003456112; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252283982284025:g.228398_228402delClinGen:CA658796485C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.720G>A (p.Glu240=)6389SDHALikely benign1579391431RCV001026161|RCV002552407; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852283982283985:g.228398G>A-
NM_004168.4(SDHA):c.723C>T (p.Asp241=)6389SDHAConflicting interpretations of pathogenicity146653693RCV000275715|RCV000334152|RCV000381733|RCV000457962|RCV000562470|RCV001529253|RCV001821078; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:001365228401228401NC_000005.9:g.228401C>TClinGen:CA3172951C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.724G>A (p.Gly242Arg)6389SDHAUncertain significance764534044RCV000227862|RCV001026197|RCV003475077; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545228402228402NC_000005.9:g.228402G>AClinGen:CA3172953C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.726G>A (p.Gly242=)6389SDHALikely benign2126559012RCV002144391|RCV002382437; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228404228404228404-
NM_004168.4(SDHA):c.728C>T (p.Ser243Phe)6389SDHAUncertain significance756966025RCV000551321|RCV002384223; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228406228406NC_000005.9:g.228406C>TClinGen:CA3172954C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.728C>G (p.Ser243Cys)6389SDHAUncertain significance756966025RCV001224708; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252284062284065:g.228406C>G-
NM_004168.4(SDHA):c.729C>T (p.Ser243=)6389SDHALikely benign778543446RCV001492789|RCV002258287; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228407228407228407-
NM_004168.4(SDHA):c.730A>G (p.Ile244Val)6389SDHAUncertain significance1162393515RCV000818938|RCV002381853; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252284082284085:g.228408A>G-
NM_004168.4(SDHA):c.733C>G (p.His245Asp)6389SDHAUncertain significance1060503716RCV000456392; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085228411228411NC_000005.9:g.228411C>GClinGen:CA16611831C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.734A>G (p.His245Arg)6389SDHAUncertain significance1579391515RCV001026306|RCV001862365; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852284122284125:g.228412A>G-
NM_004168.4(SDHA):c.734A>T (p.His245Leu)6389SDHAUncertain significance1579391515RCV001054031; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852284122284125:g.228412A>T-
NM_004168.4(SDHA):c.736C>T (p.Arg246Cys)6389SDHAUncertain significance1579391530RCV001026333|RCV001034942|RCV002468615; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:61925952284142284145:g.228414C>T-
NM_004168.4(SDHA):c.737G>A (p.Arg246His)6389SDHAUncertain significance745309710RCV001055444|RCV002379566|RCV003473657; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452284152284155:g.228415G>A-
NM_004168.4(SDHA):c.737G>T (p.Arg246Leu)6389SDHAUncertain significance745309710RCV002000580; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085228415228415228415-
NM_004168.4(SDHA):c.738C>T (p.Arg246=)6389SDHALikely benign2126559157RCV002092454|RCV002386947; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228416228416228416-
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)6389SDHAConflicting interpretations of pathogenicity571292356RCV000214276|RCV000230633|RCV000765826|RCV000663181; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M52284172284175:g.228417A>GClinGen:CA3172957C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.741A>G (p.Ile247Met)6389SDHAUncertain significance1735177782RCV001870866|RCV003164197; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228419228419228419-
NM_004168.4(SDHA):c.743G>C (p.Arg248Thr)6389SDHAUncertain significance-1RCV002722133; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228421228421NC_000005.9:g.228421G>C-
NM_004168.4(SDHA):c.748A>G (p.Lys250Glu)6389SDHAUncertain significance1735177925RCV001338000|RCV003294325; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228426228426228426-
NM_004168.4(SDHA):c.749A>G (p.Lys250Arg)6389SDHAUncertain significance1060503700RCV000463173|RCV002393167|RCV003324754; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005228427228427NC_000005.9:g.228427A>GClinGen:CA16611833C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.751A>G (p.Asn251Asp)6389SDHAUncertain significance-1RCV003035700; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228429228429NC_000005.9:g.228429A>G-
NM_004168.4(SDHA):c.752A>C (p.Asn251Thr)6389SDHAUncertain significance1318566276RCV000693374|RCV003163169; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252284302284305:g.228430A>C-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.753C>G (p.Asn251Lys)6389SDHAUncertain significance1126411RCV000559467|RCV001026538; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252284312284315:g.228431C>GClinGen:CA359011200C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.753C>T (p.Asn251=)6389SDHALikely benign1126411RCV001455157|RCV002396061; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625228431228431228431-
NM_004168.4(SDHA):c.757_758del (p.Val253fs)6389SDHAPathogenic/Likely pathogenic1553998254RCV000576361|RCV001381444; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252284342284355:g.228434_228435delClinGen:CA658657422C3279992 614165 Paragangliomas 5;
NM_004168.4(SDHA):c.757G>A (p.Val253Ile)6389SDHAUncertain significance1126412RCV000470372; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228435228435NC_000005.9:g.228435G>AClinGen:CA3172960C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.757G>C (p.Val253Leu)6389SDHAUncertain significance-1RCV002644206; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228435228435NC_000005.9:g.228435G>C-
NM_004168.4(SDHA):c.762_770+17del6389SDHAPathogenic/Likely pathogenic1041809852RCV000456955|RCV002393168|RCV002506134|RCV003316574|RCV003476122; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M5228439228464NC_000005.9:g.228440_228465delClinGen:CA16611876C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.763G>A (p.Ala255Thr)6389SDHAUncertain significance1735179887RCV001239987; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252284412284415:g.228441G>A-
NM_004168.4(SDHA):c.766A>G (p.Thr256Ala)6389SDHAUncertain significance1409070000RCV000694488|RCV002388256; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252284442284445:g.228444A>G-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.766A>T (p.Thr256Ser)6389SDHAUncertain significance1409070000RCV002047351; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085228444228444228444-
NM_004168.4(SDHA):c.767C>T (p.Thr256Ile)6389SDHAUncertain significance2126559328RCV001976578; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085228445228445228445-
NM_004168.4(SDHA):c.768A>C (p.Thr256=)6389SDHALikely benign2126559341RCV001405323; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228446228446228446-
NM_004168.4(SDHA):c.768A>T (p.Thr256=)6389SDHALikely benign2126559341RCV001484481; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228446228446228446-
NM_004168.4(SDHA):c.769_770+77del6389SDHALikely pathogenic-1RCV002966537; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228446228524NC_000005.9:g.228447_228525del-
NM_004168.4(SDHA):c.770G>A (p.Gly257Glu)6389SDHAUncertain significance749566947RCV001358988; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085228448228448228448-
NM_004168.4(SDHA):c.770G>C (p.Gly257Ala)6389SDHAConflicting interpretations of pathogenicity749566947RCV001885198|RCV001799815; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448905228448228448228448-
NM_004168.4(SDHA):c.770+3A>G6389SDHAUncertain significance-1RCV002876035; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228451228451NC_000005.9:g.228451A>G-
NM_004168.4(SDHA):c.770+7A>C6389SDHALikely benign770997653RCV001455596; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252284552284555:g.228455A>C-
NM_004168.4(SDHA):c.770+7A>T6389SDHALikely benign770997653RCV002126413; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228455228455228455-
NM_004168.4(SDHA):c.770+9C>G6389SDHALikely benign538621686RCV001506042; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725228457228457228457-
NM_004168.4(SDHA):c.770+10T>G6389SDHALikely benign1579391739RCV001506721; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252284582284585:g.228458T>G-
NM_004168.4(SDHA):c.771-11A>G6389SDHABenign2288461RCV000245369|RCV000281527|RCV000330761|RCV000375985|RCV000492269|RCV001544159|RCV001594904|RCV001544160|RCV003316406; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140165230980230980NC_000005.9:g.230980A>GClinGen:CA3172990C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.771-4C>G6389SDHALikely benign1360537551RCV001479132; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725230987230987230987-
NM_004168.4(SDHA):c.771-4C>T6389SDHAConflicting interpretations of pathogenicity1360537551RCV002113214|RCV002398234; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625230987230987230987-
NM_004168.4(SDHA):c.771-1G>C6389SDHALikely pathogenic1735353141RCV001378546|RCV003473911; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545230990230990230990-
NM_004168.4(SDHA):c.772G>T (p.Gly258Cys)6389SDHAUncertain significance-1RCV002802206; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725230992230992NC_000005.9:g.230992G>T-
NM_004168.4(SDHA):c.774C>T (p.Gly258=)6389SDHALikely benign2126567779RCV001480757; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085230994230994230994-
NM_004168.4(SDHA):c.774C>A (p.Gly258=)6389SDHALikely benign2126567779RCV002208173; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085230994230994230994-
NM_004168.4(SDHA):c.775del (p.Tyr259fs)6389SDHAConflicting interpretations of pathogenicity1553998606RCV000572546|RCV000778763|RCV000810235; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162||MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725230995230995NC_000005.9:g.230995delClinGen:CA658657423
NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys)6389SDHAUncertain significance1579397049RCV000809667|RCV002406818|RCV003320757; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190052309962309965:g.230996A>G-
NM_004168.4(SDHA):c.777C>T (p.Tyr259=)6389SDHAConflicting interpretations of pathogenicity140243793RCV000234552|RCV000567901|RCV001153420|RCV001153422|RCV001153421|RCV003430784; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MO5230997230997NC_000005.9:g.230997C>TClinGen:CA3172993C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg)6389SDHAPathogenic/Likely pathogenic940845256RCV000460623|RCV001026811|RCV001775823|RCV003476124; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:6136425230998230998NC_000005.9:g.230998G>AClinGen:CA16611878C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg)6389SDHAPathogenic/Likely pathogenic940845256RCV001377775|RCV001836652|RCV002413906; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625230998230998230998-
NM_004168.4(SDHA):c.781C>T (p.Arg261Cys)6389SDHAUncertain significance143484394RCV000649447|RCV002406450; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231001231001NC_000005.9:g.231001C>TClinGen:CA3172995C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.782G>A (p.Arg261His)6389SDHAUncertain significance769228279RCV001365806|RCV002413873; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231002231002231002-
NM_004168.4(SDHA):c.783C>T (p.Arg261=)6389SDHALikely benign1037927856RCV000930451; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852310032310035:g.231003C>T-
NM_004168.4(SDHA):c.786del (p.Tyr263fs)6389SDHAPathogenic/Likely pathogenic1553998613RCV000627471|RCV001855336|RCV002413782|RCV003316778; NMedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:6141655231005231005NC_000005.9:g.231006delClinGen:CA658796487
NM_004168.4(SDHA):c.785C>T (p.Thr262Ile)6389SDHAUncertain significance1579397115RCV000815298|RCV001026883|RCV003472426; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452310052310055:g.231005C>T-
NM_004168.4(SDHA):c.786C>T (p.Thr262=)6389SDHALikely benign1560992315RCV002155622|RCV002409534; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231006231006231006-
NM_004168.4(SDHA):c.788A>G (p.Tyr263Cys)6389SDHAUncertain significance2126567907RCV001930654; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231008231008231008-
NM_004168.4(SDHA):c.789C>T (p.Tyr263=)6389SDHALikely benign1553998616RCV000649468|RCV002422382; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231009231009NC_000005.9:g.231009C>TClinGen:CA442691470C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.791T>G (p.Phe264Cys)6389SDHAUncertain significance2126567940RCV001368599; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085231011231011231011-
NM_004168.4(SDHA):c.792C>G (p.Phe264Leu)6389SDHAUncertain significance1237513803RCV000535514|RCV002420505|RCV001821587; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN16937452310122310125:g.231012C>GClinGen:CA359011581C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.792C>T (p.Phe264=)6389SDHALikely benign1237513803RCV001479819; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231012231012231012-
NM_004168.4(SDHA):c.793A>T (p.Ser265Cys)6389SDHAUncertain significance2126567967RCV002027846; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231013231013231013-
NM_004168.4(SDHA):c.795C>T (p.Ser265=)6389SDHALikely benign1579397171RCV000877990|RCV002416088; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310152310155:g.231015C>T-
NM_004168.4(SDHA):c.796T>C (p.Cys266Arg)6389SDHAUncertain significance1579397179RCV000799284; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252310162310165:g.231016T>C-
NM_004168.4(SDHA):c.800C>T (p.Thr267Met)6389SDHAUncertain significance777167108RCV000477464|RCV001027056; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231020231020NC_000005.9:g.231020C>TClinGen:CA3172997C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.801G>A (p.Thr267=)6389SDHALikely benign543630901RCV000457309|RCV001027072|RCV001696814; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005231021231021NC_000005.9:g.231021G>AClinGen:CA3172998C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.805G>A (p.Ala269Thr)6389SDHAUncertain significance1579397217RCV000798224; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252310252310255:g.231025G>A-
NM_004168.4(SDHA):c.807C>A (p.Ala269=)6389SDHALikely benign-1RCV002419387|RCV003120969; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231027231027-
NM_004168.4(SDHA):c.809A>T (p.His270Leu)6389SDHAUncertain significance1381228775RCV001041664|RCV003160275|RCV002479266; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MO52310292310295:g.231029A>T-
NM_004168.4(SDHA):c.809_814del (p.His270_Ser272delinsArg)6389SDHAUncertain significance2126568112RCV001363743; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231029231034231028-
NM_004168.4(SDHA):c.810C>T (p.His270=)6389SDHALikely benign1199457341RCV001027185|RCV001428715; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852310302310305:g.231030C>T-
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser)6389SDHAUncertain significance765611464RCV000463083|RCV000765827|RCV001775822|RCV002418426; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MOND5231032231032NC_000005.9:g.231032C>GClinGen:CA3172999C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.812C>T (p.Thr271Ile)6389SDHAUncertain significance765611464RCV000816383|RCV002415913; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310322310325:g.231032C>T-
NM_004168.4(SDHA):c.817A>G (p.Thr273Ala)6389SDHAUncertain significance1735357615RCV001230323; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252310372310375:g.231037A>G-
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)6389SDHAConflicting interpretations of pathogenicity587781720RCV000129906|RCV000409578|RCV000649428|RCV001818307; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|52310382310385:g.231038C>TClinGen:CA165326C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.819T>G (p.Thr273=)6389SDHALikely benign-1RCV002721920; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231039231039-
NM_004168.4(SDHA):c.822C>T (p.Gly274=)6389SDHAConflicting interpretations of pathogenicity34771391RCV000210510|RCV000287211|RCV000317795|RCV000372488|RCV000426962|RCV000570502|RCV003316165; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO5231042231042NC_000005.9:g.231042C>TClinGen:CA358575C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.822C>A (p.Gly274=)6389SDHALikely benign34771391RCV000551101; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852310422310425:g.231042C>AClinGen:CA442691490C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.823G>A (p.Asp275Asn)6389SDHAUncertain significance1553998629RCV000527085|RCV002413611; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310432310435:g.231043G>AClinGen:CA359011699C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.825C>T (p.Asp275=)6389SDHABenign/Likely benign1237373391RCV000539832|RCV002255457; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231045231045NC_000005.9:g.231045C>TClinGen:CA442691492C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser)6389SDHAUncertain significance751008647RCV000472703|RCV000663336|RCV002429556; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231046231046NC_000005.9:g.231046G>AClinGen:CA3173001C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.828C>T (p.Gly276=)6389SDHAUncertain significance754910183RCV000547755; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085231048231048NC_000005.9:g.231048C>TClinGen:CA442691494C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.828C>A (p.Gly276=)6389SDHALikely benign754910183RCV001468959; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231048231048231048-
NM_004168.4(SDHA):c.829A>G (p.Thr277Ala)6389SDHAUncertain significance1553998638RCV000566367|RCV001859970; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252310492310495:g.231049A>GClinGen:CA359011741C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)6389SDHAConflicting interpretations of pathogenicity367721665RCV000208222|RCV000228322|RCV000342145|RCV000283732|RCV000396726|RCV000411374|RCV000570331|RCV002510820|RCV003474989; NHuman Phenotype Ontology:HP:0003756,MONDO:MONDO:0020120,MedGen:C1533847, Orphanet:98472|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353,Orpha52310502310505:g.231050C>TClinGen:CA069792C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.830C>A (p.Thr277Lys)6389SDHAUncertain significance367721665RCV000649456|RCV002424510|RCV003472048; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545231050231050NC_000005.9:g.231050C>AClinGen:CA3173003C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.831G>A (p.Thr277=)6389SDHALikely benign1470632146RCV000528017|RCV002431684; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231051231051NC_000005.9:g.231051G>AClinGen:CA442691497C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.832G>A (p.Ala278Thr)6389SDHAUncertain significance1178613645RCV001236446|RCV002436923; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310522310525:g.231052G>A-
NM_004168.4(SDHA):c.834C>T (p.Ala278=)6389SDHALikely benign1553998649RCV000540465|RCV000573575; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310542310545:g.231054C>TClinGen:CA442691500C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.835A>G (p.Met279Val)6389SDHAUncertain significance755913710RCV000468486|RCV002436467; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231055231055NC_000005.9:g.231055A>GClinGen:CA3173004C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.835A>T (p.Met279Leu)6389SDHAUncertain significance755913710RCV001201690|RCV003293991; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310552310555:g.231055A>T-
NM_004168.4(SDHA):c.836T>C (p.Met279Thr)6389SDHAUncertain significance777595710RCV001039066|RCV002434447; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310562310565:g.231056T>C-
NM_004168.4(SDHA):c.837G>T (p.Met279Ile)6389SDHAUncertain significance746145822RCV000703041|RCV002440522|RCV003238191; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005231057231057NC_000005.9:g.231057G>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.837G>C (p.Met279Ile)6389SDHAUncertain significance-1RCV002614584; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231057231057NC_000005.9:g.231057G>C-
NM_004168.4(SDHA):c.839T>A (p.Ile280Asn)6389SDHAUncertain significance2126568391RCV001974588|RCV002441074; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231059231059231059-
NM_004168.4(SDHA):c.840C>G (p.Ile280Met)6389SDHAUncertain significance2126568400RCV001899746; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231060231060231060-
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)6389SDHAUncertain significance772325115RCV000662906|RCV000818760|RCV002442385|RCV002493076|RCV003420161|RCV003472060; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|5231061231061NC_000005.9:g.231061A>G-C3279992 614165 Paragangliomas 5;
NM_004168.4(SDHA):c.842C>G (p.Thr281Ser)6389SDHAUncertain significance-1RCV003080221; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231062231062NC_000005.9:g.231062C>G-
NM_004168.4(SDHA):c.844A>G (p.Arg282Gly)6389SDHAUncertain significance1553998658RCV000553235; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852310642310645:g.231064A>GClinGen:CA359011802C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.845G>C (p.Arg282Thr)6389SDHAUncertain significance1735361111RCV001300894|RCV003373108; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231065231065231065-
NM_004168.4(SDHA):c.846G>A (p.Arg282=)6389SDHALikely benign1579397464RCV000981454|RCV002445136; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310662310665:g.231066G>A-
NM_004168.4(SDHA):c.848C>T (p.Ala283Val)6389SDHAUncertain significance-1RCV002815762; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231068231068NC_000005.9:g.231068C>T-
NM_004168.4(SDHA):c.852C>G (p.Gly284=)6389SDHALikely benign552108762RCV000529223|RCV003343916; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310722310725:g.231072C>GClinGen:CA3173008C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.852C>A (p.Gly284=)6389SDHALikely benign552108762RCV000872455|RCV002444941; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310722310725:g.231072C>A-
NM_004168.4(SDHA):c.853C>T (p.Leu285Phe)6389SDHAUncertain significance747045191RCV000649446|RCV001017973; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310732310735:g.231073C>TClinGen:CA3173009C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.856C>T (p.Pro286Ser)6389SDHAUncertain significance1579397496RCV001018011|RCV000801027; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252310762310765:g.231076C>T-
NM_004168.4(SDHA):c.858T>A (p.Pro286=)6389SDHALikely benign1553998661RCV000574929|RCV000871585; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252310782310785:g.231078T>AClinGen:CA442691515C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.859T>A (p.Cys287Ser)6389SDHAUncertain significance2126568567RCV001908455; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231079231079231079-
NM_004168.4(SDHA):c.861C>G (p.Cys287Trp)6389SDHAUncertain significance140797184RCV000705741|RCV002369962; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310812310815:g.231081C>G-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.861C>T (p.Cys287=)6389SDHALikely benign-1RCV003052924|RCV003340602; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231081231081-
NM_004168.4(SDHA):c.865G>T (p.Asp289Tyr)6389SDHAUncertain significance2126568625RCV001902838; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085231085231085231085-
NM_004168.4(SDHA):c.865G>A (p.Asp289Asn)6389SDHAUncertain significance-1RCV002685566; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231085231085NC_000005.9:g.231085G>A-
NM_004168.4(SDHA):c.867C>G (p.Asp289Glu)6389SDHAUncertain significance-1RCV002449681|RCV003100000; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231087231087231087-
NM_004168.4(SDHA):c.867C>T (p.Asp289=)6389SDHALikely benign-1RCV002686012; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231087231087-
NM_004168.4(SDHA):c.868C>T (p.Leu290=)6389SDHALikely benign2126568639RCV001430654; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231088231088231088-
NM_004168.4(SDHA):c.869T>C (p.Leu290Pro)6389SDHAUncertain significance1333787672RCV001051573|RCV002374907|RCV003473645; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452310892310895:g.231089T>C-
NM_004168.4(SDHA):c.871G>A (p.Glu291Lys)6389SDHAUncertain significance1579397516RCV000810928|RCV002370178; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310912310915:g.231091G>A-
NM_004168.4(SDHA):c.872A>T (p.Glu291Val)6389SDHAUncertain significance1336029027RCV000795093|RCV002370081; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252310922310925:g.231092A>T-
NM_004168.4(SDHA):c.872A>C (p.Glu291Ala)6389SDHAUncertain significance-1RCV002373489|RCV003100010; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231092231092231092-
NM_004168.4(SDHA):c.872A>G (p.Glu291Gly)6389SDHAUncertain significance-1RCV002658108; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231092231092NC_000005.9:g.231092A>G-
NM_004168.4(SDHA):c.873G>A (p.Glu291=)6389SDHALikely benign570393010RCV000463231|RCV001018260; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231093231093NC_000005.9:g.231093G>AClinGen:CA3173011C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.875T>G (p.Phe292Cys)6389SDHAUncertain significance2126568674RCV002029830; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231095231095231095-
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter)6389SDHAPathogenic1560992565RCV000706931|RCV002442539|RCV003316801; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231100231100NC_000005.9:g.231100C>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.880C>A (p.Gln294Lys)6389SDHAUncertain significance-1RCV003006201; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231100231100NC_000005.9:g.231100C>A-
NM_004168.4(SDHA):c.882G>T (p.Gln294His)6389SDHAUncertain significance371512265RCV001935495; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085231102231102231102-
NM_004168.4(SDHA):c.882G>A (p.Gln294=)6389SDHALikely benign-1RCV002373772|RCV003100037; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231102231102-
NM_004168.4(SDHA):c.884T>A (p.Phe295Tyr)6389SDHAUncertain significance1735363396RCV001344327; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231104231104231104-
NM_004168.4(SDHA):c.886C>T (p.His296Tyr)6389SDHAUncertain significance1579397566RCV001018428|RCV001049537; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252311062311065:g.231106C>T-
NM_004168.4(SDHA):c.888C>T (p.His296=)6389SDHALikely benign1553998666RCV001475500; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231108231108NC_000005.9:g.231108C>TClinGen:CA442691530C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.889C>T (p.Pro297Ser)6389SDHAUncertain significance1224049075RCV001054039; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852311092311095:g.231109C>T-
NM_004168.4(SDHA):c.890_891delinsTC (p.Pro297Leu)6389SDHAUncertain significance1579397592RCV001018484|RCV001240518; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231110231111NC_000005.9:g.231110_231111delinsTC-
NM_004168.4(SDHA):c.891T>C (p.Pro297=)6389SDHABenign1126417RCV000118321|RCV000162482|RCV000308030|RCV000347829|RCV000400279|RCV001509670|RCV001544164|RCV001544165|RCV001711387|RCV003315685; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5052311112311115:g.231111T>CClinGen:CA155160C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.891T>G (p.Pro297=)6389SDHALikely benign1126417RCV001421869|RCV003298712; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231111231111231111-
NM_004168.4(SDHA):c.894A>G (p.Thr298=)6389SDHALikely benign774584410RCV000531297|RCV002377146; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625231114231114NC_000005.9:g.231114A>GClinGen:CA3173013C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.895+1del6389SDHALikely pathogenic2126568833RCV001995700|RCV003453916; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231115231115231114-
NM_004168.4(SDHA):c.895+4G>A6389SDHAUncertain significance1735364791RCV001343753; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725231119231119231119-
NM_004168.4(SDHA):c.895+6G>A6389SDHALikely benign765946047RCV001061641; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252311212311215:g.231121G>A-
NM_004168.4(SDHA):c.895+8A>G6389SDHALikely benign892273080RCV000869860; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852311232311235:g.231123A>G-
NM_004168.4(SDHA):c.895+9G>A6389SDHALikely benign1579397653RCV001441334; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252311242311245:g.231124G>A-
NM_004168.4(SDHA):c.895+13G>A6389SDHAConflicting interpretations of pathogenicity201461936RCV000440704|RCV000662985|RCV001157730|RCV001157731|RCV001157732|RCV002256236; NMedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|52311282311285:g.231128G>AClinGen:CA3173017CN169374 not specified;
NM_004168.4(SDHA):c.896-11G>T6389SDHAUncertain significance774043076RCV001157734|RCV001157733|RCV001157735|RCV002256692; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252335812335815:g.233581G>T-
NM_004168.4(SDHA):c.896-10T>G6389SDHAUncertain significance2126576716RCV001877059; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233582233582233582-
NM_004168.4(SDHA):c.896-5del6389SDHABenign751123858RCV002132498; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233582233582233581-
NM_004168.4(SDHA):c.896-5T>G6389SDHAUncertain significance2126576742RCV001915553; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233587233587233587-
NM_004168.4(SDHA):c.896-4G>A6389SDHAConflicting interpretations of pathogenicity555881974RCV000543768|RCV003316720|RCV002448768; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233588233588NC_000005.9:g.233588G>AClinGen:CA3173037C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.896-3C>T6389SDHAUncertain significance1735543080RCV001341902; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233589233589233589-
NM_004168.4(SDHA):c.896-2del6389SDHALikely pathogenic-1RCV003046279; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233590233590NC_000005.9:g.233590del-
NM_004168.4(SDHA):c.897C>T (p.Gly299=)6389SDHALikely benign1484385016RCV000797742|RCV002370095; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252335932335935:g.233593C>T-
NM_004168.4(SDHA):c.898A>C (p.Ile300Leu)6389SDHAUncertain significance1448561231RCV000812836; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252335942335945:g.233594A>C-
NM_004168.4(SDHA):c.898A>G (p.Ile300Val)6389SDHAUncertain significance-1RCV002376276|RCV003100074; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233594233594233594-
NM_004168.4(SDHA):c.899T>C (p.Ile300Thr)6389SDHAUncertain significance878854637RCV000232508|RCV001018599; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252335952335955:g.233595T>CClinGen:CA10582423C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.900A>G (p.Ile300Met)6389SDHAUncertain significance1735543603RCV001314057; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233596233596233596-
NM_004168.4(SDHA):c.901T>C (p.Tyr301His)6389SDHAUncertain significance1060503713RCV000477068|RCV002374817; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233597233597NC_000005.9:g.233597T>CClinGen:CA16611939C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)6389SDHAUncertain significance182055219RCV001018684|RCV000765828|RCV000701878; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MO5233598233598NC_000005.9:g.233598A>G-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.905G>A (p.Gly302Asp)6389SDHAUncertain significance1735544082RCV001323316|RCV001586126|RCV002377407; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233601233601233601-
NM_004168.4(SDHA):c.907G>T (p.Ala303Ser)6389SDHAUncertain significance2126576840RCV001993004|RCV002370603; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233603233603233603-
NM_004168.4(SDHA):c.914G>T (p.Cys305Phe)6389SDHAUncertain significance878854638RCV000234148; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252336102336105:g.233610G>TClinGen:CA10582424C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr)6389SDHAUncertain significance878854638RCV000468097|RCV000575963|RCV000662791|RCV003313078; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|5233610233610NC_000005.9:g.233610G>AClinGen:CA16611838C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.916C>G (p.Leu306Val)6389SDHAUncertain significance1735544893RCV001227668; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252336122336125:g.233612C>G-
NM_004168.4(SDHA):c.917T>C (p.Leu306Pro)6389SDHAUncertain significance1477142607RCV001981723; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233613233613233613-
NM_004168.4(SDHA):c.918C>G (p.Leu306=)6389SDHABenign/Likely benign138828792RCV000239363|RCV000568221|RCV002479953; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN1693745233614233614NC_000005.9:g.233614C>GClinGen:CA3173039C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.918C>T (p.Leu306=)6389SDHALikely benign138828792RCV000877742|RCV001018968; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252336142336145:g.233614C>T-
NM_004168.4(SDHA):c.918C>A (p.Leu306=)6389SDHALikely benign138828792RCV001452109; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852336142336145:g.233614C>A-
NM_004168.4(SDHA):c.919A>G (p.Ile307Val)6389SDHAUncertain significance200632016RCV000229059|RCV001018991|RCV002503908; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MO52336152336155:g.233615A>GClinGen:CA10582425C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.921T>C (p.Ile307=)6389SDHALikely benign-1RCV002867652; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233617233617-
NM_004168.4(SDHA):c.923C>T (p.Thr308Met)6389SDHAConflicting interpretations of pathogenicity1457666982RCV000560478|RCV000563497|RCV001799682|RCV003237920; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D052336192336195:g.233619C>TClinGen:CA359012572C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.923C>A (p.Thr308Lys)6389SDHAUncertain significance-1RCV003069140; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233619233619NC_000005.9:g.233619C>A-
NM_004168.4(SDHA):c.924G>A (p.Thr308=)6389SDHAConflicting interpretations of pathogenicity1355760590RCV000531991|RCV002377147; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233620233620NC_000005.9:g.233620G>AClinGen:CA442691660C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.926A>G (p.Glu309Gly)6389SDHAUncertain significance1735547863RCV001227669|RCV003473791; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452336222336225:g.233622A>G-
NM_004168.4(SDHA):c.928G>A (p.Gly310Arg)6389SDHAUncertain significance-1RCV002663467; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233624233624NC_000005.9:g.233624G>A-
NM_004168.4(SDHA):c.930A>C (p.Gly310=)6389SDHALikely benign1579402124RCV001504224; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252336262336265:g.233626A>C-
NM_004168.4(SDHA):c.934_936del (p.Arg312del)6389SDHAUncertain significance1735548711RCV001999182; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233628233630233627-
NM_004168.4(SDHA):c.933T>C (p.Cys311=)6389SDHALikely benign764026731RCV001019190|RCV002549500; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252336292336295:g.233629T>C-
NM_004168.4(SDHA):c.934C>T (p.Arg312Cys)6389SDHAUncertain significance1735549033RCV001768271|RCV001885098|RCV002370309; NMedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233630233630233630-
NM_004168.4(SDHA):c.935G>A (p.Arg312His)6389SDHAUncertain significance876660932RCV000692412|RCV001019215|RCV003472207; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452336312336315:g.233631G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.935G>T (p.Arg312Leu)6389SDHAUncertain significance876660932RCV001295581|RCV003166644; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233631233631233631-
NM_004168.4(SDHA):c.936T>G (p.Arg312=)6389SDHALikely benign2126577072RCV002207096; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233632233632233632-
NM_004168.4(SDHA):c.939A>C (p.Gly313=)6389SDHALikely benign1579402154RCV001405606; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252336352336355:g.233635A>C-
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys)6389SDHAConflicting interpretations of pathogenicity1337704280RCV000649440|RCV002369738; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233636233636NC_000005.9:g.233636G>AClinGen:CA359012620C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.941A>G (p.Glu314Gly)6389SDHAUncertain significance1735550179RCV001299900|RCV003473851; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545233637233637233637-
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala)6389SDHAUncertain significance1735550179RCV001959898|RCV002370556; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233637233637233637-
NM_004168.4(SDHA):c.942G>A (p.Glu314=)6389SDHALikely benign1553998977RCV000544759|RCV002377148; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233638233638NC_000005.9:g.233638G>AClinGen:CA442691673C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs)6389SDHAPathogenic1579402188RCV000813707; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252336382336415:g.233639_233641del-
NM_004168.4(SDHA):c.944G>A (p.Gly315Glu)6389SDHAUncertain significance1579402194RCV000816441; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252336402336405:g.233640G>A-
NM_004168.4(SDHA):c.950T>C (p.Ile317Thr)6389SDHAUncertain significance903136919RCV002005616; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233646233646233646-
NM_004168.4(SDHA):c.952C>T (p.Leu318Phe)6389SDHAUncertain significance1735551482RCV001212408; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252336482336485:g.233648C>T-
NM_004168.4(SDHA):c.954C>T (p.Leu318=)6389SDHALikely benign1412623947RCV000566045|RCV000869875|RCV002497217; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259; MONDO:MONDO:01052336502336505:g.233650C>TClinGen:CA442691684C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)6389SDHAConflicting interpretations of pathogenicity377509915RCV000462816|RCV000565889|RCV000765829|RCV001821296|RCV002272249|RCV003476127; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MO5233651233651NC_000005.9:g.233651A>CClinGen:CA3173042C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.955A>G (p.Ile319Val)6389SDHAUncertain significance377509915RCV000662946|RCV000557149|RCV001019482; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233651233651NC_000005.9:g.233651A>GClinGen:CA359012672C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.957T>C (p.Ile319=)6389SDHALikely benign757167466RCV000536309|RCV001019510; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252336532336535:g.233653T>CClinGen:CA3173043C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.959A>G (p.Asn320Ser)6389SDHAUncertain significance765092091RCV001019521|RCV001247226; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252336552336555:g.233655A>G-
NM_004168.4(SDHA):c.960C>T (p.Asn320=)6389SDHALikely benign1289327970RCV001434569|RCV002372589; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252336562336565:g.233656C>T-
NM_004168.4(SDHA):c.962G>T (p.Ser321Ile)6389SDHAUncertain significance751896104RCV001052866|RCV002374916; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252336582336585:g.233658G>T-
NM_004168.4(SDHA):c.963T>C (p.Ser321=)6389SDHALikely benign755235011RCV002089432|RCV003434384; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C36619005233659233659233659-
NM_004168.4(SDHA):c.965A>C (p.Gln322Pro)6389SDHAUncertain significance1553998989RCV000649453; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233661233661NC_000005.9:g.233661A>CClinGen:CA359012705C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.967G>A (p.Gly323Ser)6389SDHAUncertain significance1553998991RCV000649460; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233663233663NC_000005.9:g.233663G>AClinGen:CA359012713C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.969C>T (p.Gly323=)6389SDHAConflicting interpretations of pathogenicity142849100RCV000129664|RCV000203785|RCV000246464|RCV000314076|RCV000399972|RCV000362684|RCV001357190|RCV003315880; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:25201152336652336655:g.233665C>TClinGen:CA345710C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.969C>A (p.Gly323=)6389SDHALikely benign142849100RCV000548814|RCV002377149; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252336652336655:g.233665C>AClinGen:CA3173047C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.969C>G (p.Gly323=)6389SDHALikely benign-1RCV002376607|RCV003094856; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233665233665-
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)6389SDHAUncertain significance147014102RCV000649457|RCV000662695|RCV002369740|RCV002493038|RCV003472049; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|52336662336665:g.233666G>AClinGen:CA3173048C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.973A>T (p.Arg325Trp)6389SDHAUncertain significance1735554095RCV001991877; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233669233669233669-
NM_004168.4(SDHA):c.974G>T (p.Arg325Met)6389SDHAUncertain significance1735554223RCV002006610|RCV002386896; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233670233670233670-
NM_004168.4(SDHA):c.975G>A (p.Arg325=)6389SDHALikely benign1418778005RCV001482943|RCV002384787; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233671233671233671-
NM_004168.4(SDHA):c.977T>A (p.Phe326Tyr)6389SDHAUncertain significance1735554652RCV001223393; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252336732336735:g.233673T>A-
NM_004168.4(SDHA):c.979A>G (p.Met327Val)6389SDHAUncertain significance1285443776RCV002031597|RCV002372823; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233675233675233675-
NM_004168.4(SDHA):c.980T>C (p.Met327Thr)6389SDHAUncertain significance2126577482RCV001884283; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233676233676233676-
NM_004168.4(SDHA):c.982G>C (p.Glu328Gln)6389SDHAUncertain significance778297896RCV001956772; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233678233678233678-
NM_004168.4(SDHA):c.984G>A (p.Glu328=)6389SDHALikely benign1735555420RCV002382287|RCV002175371; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233680233680233680-
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)6389SDHAPathogenic771328239RCV000462116|RCV001019810; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233681233681NC_000005.9:g.233681C>TClinGen:CA16611943C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.985C>G (p.Arg329Gly)6389SDHAUncertain significance771328239RCV000556956|RCV002384224; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252336812336815:g.233681C>GClinGen:CA3173054C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.986G>A (p.Arg329Gln)6389SDHAUncertain significance138265892RCV000690290|RCV001019831|RCV001771947; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005233682233682NC_000005.9:g.233682G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.988T>A (p.Tyr330Asn)6389SDHAUncertain significance-1RCV002899145; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233684233684NC_000005.9:g.233684T>A-
NM_004168.4(SDHA):c.990C>T (p.Tyr330=)6389SDHALikely benign370547766RCV000537496|RCV002384225; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233686233686NC_000005.9:g.233686C>TClinGen:CA3173057C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)6389SDHAConflicting interpretations of pathogenicity200526913RCV000239369|RCV000567963|RCV000765830|RCV002291613; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MO5233687233687NC_000005.9:g.233687G>AClinGen:CA3173058C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.991G>T (p.Ala331Ser)6389SDHAUncertain significance200526913RCV001936106; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233687233687233687-
NM_004168.4(SDHA):c.991_992delinsAA (p.Ala331Asn)6389SDHAUncertain significance-1RCV002843230; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233687233688NC_000005.9:g.233687_233688delinsAA-
NM_004168.4(SDHA):c.992C>G (p.Ala331Gly)6389SDHAUncertain significance1206201147RCV000799683; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252336882336885:g.233688C>G-
NM_004168.4(SDHA):c.992C>T (p.Ala331Val)6389SDHAUncertain significance1206201147RCV001322315|RCV002546094|RCV003355389; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233688233688233688-
NM_004168.4(SDHA):c.993C>T (p.Ala331=)6389SDHALikely benign1424925197RCV001500175|RCV002382153; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252336892336895:g.233689C>T-
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala)6389SDHAUncertain significance373509391RCV000194437|RCV000229794|RCV000563954|RCV001558313|RCV003474947; NMedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C31552336902336905:g.233690C>GClinGen:CA208608C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.995_996del (p.Pro332fs)6389SDHAPathogenic1560994766RCV000697696|RCV002386222|RCV003148832|RCV003313134; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|52336912336925:g.233691_233692del-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr)6389SDHAUncertain significance1057517540RCV000410220|RCV000649427|RCV002379266; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233692233694NC_000005.9:g.233692_233694delinsCACClinGen:CA16042100C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.996_997inv (p.Val333Ile)6389SDHAUncertain significance-1RCV000473544|RCV002383837; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233692233693NC_000005.9:g.233692_233693invClinGen:CA16611881C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.997G>C (p.Val333Leu)6389SDHAUncertain significance1062468RCV000469550|RCV002383836|RCV002489089; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; 5233693233693NC_000005.9:g.233693G>CClinGen:CA16611946C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.997G>A (p.Val333Ile)6389SDHAUncertain significance1062468RCV001301605|RCV002384359; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233693233693233693-
NM_004168.4(SDHA):c.999C>G (p.Val333=)6389SDHALikely benign149556555RCV000525741|RCV001019964; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233695233695NC_000005.9:g.233695C>GClinGen:CA3173061C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.999C>T (p.Val333=)6389SDHALikely benign149556555RCV000867551|RCV001019965; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252336952336955:g.233695C>T-
NM_004168.4(SDHA):c.999C>A (p.Val333=)6389SDHALikely benign-1RCV002383062|RCV003103626; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233695233695-
NM_004168.4(SDHA):c.1000G>A (p.Ala334Thr)6389SDHAUncertain significance1401459296RCV000533503|RCV002350351; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252336962336965:g.233696G>AClinGen:CA359012819C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1000G>T (p.Ala334Ser)6389SDHAUncertain significance-1RCV002303643|RCV002363753; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233696233696233696-
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val)6389SDHAUncertain significance765180271RCV000546125|RCV001009632|RCV002483478|RCV002272285; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; 5233697233697NC_000005.9:g.233697C>TClinGen:CA3173062C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1002G>A (p.Ala334=)6389SDHAConflicting interpretations of pathogenicity144252500RCV000239366|RCV000570639|RCV001152241|RCV001152242|RCV001152243|RCV001705321|RCV001820792|RCV003316318; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MO5233698233698NC_000005.9:g.233698G>AClinGen:CA3173063C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr)6389SDHAUncertain significance1560994846RCV000696711; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233700233700NC_000005.9:g.233700A>C-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1005G>A (p.Lys335=)6389SDHALikely benign1735559685RCV001237573; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252337012337015:g.233701G>A-
NM_004168.4(SDHA):c.1005G>C (p.Lys335Asn)6389SDHAUncertain significance1735559685RCV002010167; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233701233701233701-
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr)6389SDHAUncertain significance1553999038RCV000662766|RCV000707079|RCV001016968; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252337022337025:g.233702G>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala)6389SDHAUncertain significance1579402533RCV000799695; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252337032337035:g.233703A>C-
NM_004168.4(SDHA):c.1009C>T (p.Leu337=)6389SDHALikely benign-1RCV002610974; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233705233705-
NM_004168.4(SDHA):c.1012del (p.Ala338fs)6389SDHAPathogenic1295239305RCV001383279|RCV002357289|RCV002508961; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; 5233707233707233706-
NM_004168.4(SDHA):c.1012G>A (p.Ala338Thr)6389SDHAUncertain significance2126577878RCV001963665|RCV002224126; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C36619005233708233708233708-
NM_004168.4(SDHA):c.1013C>T (p.Ala338Val)6389SDHAUncertain significance1560994866RCV000706884|RCV003165926; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252337092337095:g.233709C>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1014G>A (p.Ala338=)6389SDHAConflicting interpretations of pathogenicity201341132RCV000456689|RCV000563364|RCV001152245|RCV001152244|RCV001152246|RCV001310840; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|M5233710233710NC_000005.9:g.233710G>AClinGen:CA3173065C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1014G>T (p.Ala338=)6389SDHALikely benign201341132RCV001499559|RCV003161005; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233710233710233710-
NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe)6389SDHAUncertain significance1553999043RCV000649398; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252337122337125:g.233712C>TClinGen:CA359012877C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1016C>G (p.Ser339Cys)6389SDHAUncertain significance1553999043RCV001326356|RCV002350606; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233712233712233712-
NM_004168.4(SDHA):c.1017T>C (p.Ser339=)6389SDHALikely benign752738784RCV000568481|RCV001401268; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252337132337135:g.233713T>CClinGen:CA442691714C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile)6389SDHAUncertain significance1579402602RCV000807121; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252337152337155:g.233715G>T-
NM_004168.4(SDHA):c.1020A>G (p.Arg340=)6389SDHALikely benign2126577996RCV002119564; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233716233716233716-
NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala)6389SDHAUncertain significance1579402616RCV000811773; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252337182337185:g.233718A>C-
NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly)6389SDHAUncertain significance-1RCV003005569; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233718233718NC_000005.9:g.233718A>G-
NM_004168.4(SDHA):c.1024GTG[1] (p.Val343del)6389SDHAUncertain significance2126578027RCV001864744; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233720233722233719-
NM_004168.4(SDHA):c.1024G>C (p.Val342Leu)6389SDHAUncertain significance1735562520RCV001864880; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233720233720233720-
NM_004168.4(SDHA):c.1026G>T (p.Val342=)6389SDHALikely benign1060505004RCV000475138|RCV002383906; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233722233722NC_000005.9:g.233722G>TClinGen:CA16611839C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1026G>A (p.Val342=)6389SDHALikely benign1060505004RCV000553862|RCV002384219; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252337222337225:g.233722G>AClinGen:CA442691718C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1027G>C (p.Val343Leu)6389SDHAUncertain significance2126578052RCV001923192; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233723233723233723-
NM_004168.4(SDHA):c.1028T>A (p.Val343Glu)6389SDHAUncertain significance1218116319RCV001068605|RCV002379612|RCV003473694; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452337242337245:g.233724T>A-
NM_004168.4(SDHA):c.1028T>C (p.Val343Ala)6389SDHAUncertain significance-1RCV002842203; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233724233724NC_000005.9:g.233724T>C-
NM_004168.4(SDHA):c.1030T>G (p.Ser344Ala)6389SDHAUncertain significance1735563330RCV001208094; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252337262337265:g.233726T>G-
NM_004168.4(SDHA):c.1032_1033del (p.Arg345fs)6389SDHAPathogenic2126578081RCV001381070; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233726233727233725-
NM_004168.4(SDHA):c.1031C>A (p.Ser344Tyr)6389SDHAUncertain significance1735563548RCV001056738|RCV002379570; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252337272337275:g.233727C>A-
NM_004168.4(SDHA):c.1031C>T (p.Ser344Phe)6389SDHAUncertain significance1735563548RCV001307448; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233727233727233727-
NM_004168.4(SDHA):c.1033C>T (p.Arg345Trp)6389SDHAUncertain significance760598746RCV000575068|RCV000998345|RCV001235731|RCV003471905; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:61364252337292337295:g.233729C>TClinGen:CA3173067C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln)6389SDHAUncertain significance1483236652RCV000530018|RCV001017082; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233730233730NC_000005.9:g.233730G>AClinGen:CA359012928C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1035del (p.Ser346fs)6389SDHAPathogenic2126578126RCV001935112; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233730233730233729-
NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp)6389SDHAUncertain significance-1RCV000694354; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233733233734NC_000005.9:g.233733_233734inv-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1037_1038delinsTG (p.Ser346Leu)6389SDHAUncertain significance1735564312RCV001060966|RCV002393299; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233733233734NC_000005.9:g.233733_233734delinsTG-
NM_004168.4(SDHA):c.1037C>G (p.Ser346Cys)6389SDHAUncertain significance1041948RCV001368729|RCV003169884; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233733233733233733-
NM_004168.4(SDHA):c.1038C>G (p.Ser346=)6389SDHABenign1041949RCV000118311|RCV000162943|RCV000274141|RCV000319420|RCV000368680|RCV001509671|RCV001711288|RCV003315675; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5052337342337345:g.233734C>GClinGen:CA155142C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1038C>T (p.Ser346=)6389SDHALikely benign1041949RCV000576001|RCV000599963|RCV000932394; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252337342337345:g.233734C>TClinGen:CA3173068C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1039A>G (p.Met347Val)6389SDHAUncertain significance1245387180RCV001359006|RCV002395791; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233735233735233735-
NM_004168.4(SDHA):c.1040T>C (p.Met347Thr)6389SDHAUncertain significance1553999054RCV000546880|RCV002395442; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252337362337365:g.233736T>CClinGen:CA359012947C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1041G>A (p.Met347Ile)6389SDHAUncertain significance1560994934RCV000701089|RCV001009777; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252337372337375:g.233737G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser)6389SDHAUncertain significance371484111RCV000469012|RCV002393169; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233738233738NC_000005.9:g.233738A>TClinGen:CA3173069C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala)6389SDHAUncertain significance371484111RCV000573837|RCV000804322; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233738233738NC_000005.9:g.233738A>GClinGen:CA359012961C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1044T>A (p.Thr348=)6389SDHALikely benign1553999055RCV000564316|RCV001419846; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233740233740NC_000005.9:g.233740T>AClinGen:CA442691731C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1053C>A (p.Ile351=)6389SDHALikely benign2126578352RCV002170126|RCV002398153; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233749233749233749-
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)6389SDHAPathogenic746165168RCV000232152|RCV000567631|RCV001329180|RCV003316268; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|M5233750233750NC_000005.9:g.233750C>TClinGen:CA10582426C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)6389SDHAConflicting interpretations of pathogenicity199844384RCV000411606|RCV000563279|RCV000765832|RCV000463749|RCV000498298|RCV001153526|RCV001153527|RCV001153528|RCV003475997; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MO5233751233751NC_000005.9:g.233751G>AClinGen:CA3173073C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1055G>T (p.Arg352Leu)6389SDHAUncertain significance199844384RCV001915420|RCV003407918; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|5233751233751233751-
NM_004168.4(SDHA):c.1056A>C (p.Arg352=)6389SDHALikely benign779804839RCV001482294|RCV003298851; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233752233752233752-
NM_004168.4(SDHA):c.1057G>A (p.Glu353Lys)6389SDHAUncertain significance1328911130RCV001301495|RCV002411958; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233753233753233753-
NM_004168.4(SDHA):c.1058A>C (p.Glu353Ala)6389SDHAUncertain significance2126578405RCV002019630; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233754233754233754-
NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg)6389SDHAUncertain significance746611221RCV001009814|RCV002549304|RCV003473563; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452337562337565:g.233756G>A-
NM_004168.4(SDHA):c.1060G>C (p.Gly354Arg)6389SDHAUncertain significance746611221RCV001302113; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233756233756233756-
NM_004168.4(SDHA):c.1061G>A (p.Gly354Glu)6389SDHAUncertain significance2126578424RCV002013131|RCV003170518; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233757233757233757-
NM_004168.4(SDHA):c.1062A>T (p.Gly354=)6389SDHAUncertain significance-1RCV003048786; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233758233758-
NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter)6389SDHAPathogenic-1RCV003077360; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233759233759NC_000005.9:g.233759A>T-
NM_004168.4(SDHA):c.1064G>T (p.Arg355Ile)6389SDHAUncertain significance1735568346RCV001324403; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233760233760233760-
NM_004168.4(SDHA):c.1064G>C (p.Arg355Thr)6389SDHAUncertain significance-1RCV002898874; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233760233760NC_000005.9:g.233760G>C-
NM_004168.4(SDHA):c.1064+1G>T6389SDHALikely pathogenic1579402807RCV000807030|RCV002406799; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252337612337615:g.233761G>T-
NM_004168.4(SDHA):c.1064+2T>A6389SDHALikely pathogenic1553999072RCV000525989|RCV000569896|RCV003476301; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452337622337625:g.233762T>AClinGen:CA359013038C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1064+2T>G6389SDHALikely pathogenic1553999072RCV002048798; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233762233762233762-
NM_004168.4(SDHA):c.1064+3G>A6389SDHAConflicting interpretations of pathogenicity1553999078RCV000562188|RCV001062134; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252337632337635:g.233763G>AClinGen:CA658657424C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1064+3G>C6389SDHAUncertain significance-1RCV002685823; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233763233763NC_000005.9:g.233763G>C-
NM_004168.4(SDHA):c.1064+4C>T6389SDHALikely benign768276870RCV000225995|RCV000575680|RCV001722238; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190052337642337645:g.233764C>TClinGen:CA3173076C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1064+4C>A6389SDHAUncertain significance768276870RCV000559435; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852337642337645:g.233764C>AClinGen:CA658657425C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1064+5GT[3]6389SDHALikely benign2126578488RCV002205860; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233764233765233764-
NM_004168.4(SDHA):c.1064+4C>G6389SDHAUncertain significance-1RCV002781314; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233764233764NC_000005.9:g.233764C>G-
NM_004168.4(SDHA):c.1064+5G>A6389SDHAConflicting interpretations of pathogenicity200021115RCV000411854|RCV000466048|RCV000561515|RCV001584106; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|5233765233765NC_000005.9:g.233765G>AClinGen:CA3173077C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1064+5G>C6389SDHAUncertain significance200021115RCV000471485|RCV000565700; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625233765233765NC_000005.9:g.233765G>CClinGen:CA3173078C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1064+7G>T6389SDHALikely benign2126578502RCV001494572; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725233767233767233767-
NM_004168.4(SDHA):c.1064+10A>G6389SDHALikely benign773168516RCV000470996; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085233770233770NC_000005.9:g.233770A>GClinGen:CA3173080C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1065-20A>G6389SDHALikely benign-1RCV002847468; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235239235239NC_000005.9:g.235239A>G-
NM_004168.4(SDHA):c.1065-17_1065-15dup6389SDHALikely benign-1RCV002891116; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235239235240NC_000005.9:g.235242_235244dup-
NM_004168.4(SDHA):c.1065-19T>C6389SDHALikely benign1735682737RCV002105310; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235240235240235240-
NM_004168.4(SDHA):c.1065-17G>A6389SDHALikely benign1268945057RCV002084808; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235242235242235242-
NM_004168.4(SDHA):c.1065-17G>C6389SDHALikely benign1268945057RCV002202627; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235242235242235242-
NM_004168.4(SDHA):c.1065-16T>C6389SDHALikely benign765268601RCV002089356; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235243235243235243-
NM_004168.4(SDHA):c.1065-12_1065-11del6389SDHALikely benign-1RCV002633507; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235246235247NC_000005.9:g.235247_235248del-
NM_004168.4(SDHA):c.1065-10G>C6389SDHALikely benign2126584071RCV002145621; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235249235249235249-
NM_004168.4(SDHA):c.1065-8C>G6389SDHAUncertain significance-1RCV002602968; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235251235251NC_000005.9:g.235251C>G-
NM_004168.4(SDHA):c.1065-7T>C6389SDHALikely benign1426933226RCV002075869; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235252235252235252-
NM_004168.4(SDHA):c.1065-6T>C6389SDHALikely benign1579406151RCV001402307; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252352532352535:g.235253T>C-
NM_004168.4(SDHA):c.1065-5A>G6389SDHALikely benign1579406152RCV000922838; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252352542352545:g.235254A>G-
NM_004168.4(SDHA):c.1065-4C>A6389SDHALikely benign575007678RCV000543416|RCV000573469; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235255235255NC_000005.9:g.235255C>AClinGen:CA3173107C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1065A>G (p.Arg355=)6389SDHAUncertain significance2126584114RCV002004361; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235259235259235259-
NM_004168.4(SDHA):c.1069T>C (p.Cys357Arg)6389SDHAUncertain significance1735685410RCV001229481; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252352632352635:g.235263T>C-
NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr)6389SDHAUncertain significance1560996433RCV000704504|RCV002422592; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252352642352645:g.235264G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1071T>C (p.Cys357=)6389SDHALikely benign1553999410RCV000535339; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852352652352655:g.235265T>CClinGen:CA442691922C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1073G>A (p.Gly358Asp)6389SDHAUncertain significance-1RCV002417113|RCV003097419; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235267235267235267-
NM_004168.4(SDHA):c.1074C>T (p.Gly358=)6389SDHALikely benign1421396049RCV001449395|RCV001528612|RCV002421015; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235268235268235268-
NM_004168.4(SDHA):c.1075C>T (p.Pro359Ser)6389SDHAUncertain significance758817818RCV001237755; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252352692352695:g.235269C>T-
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys)6389SDHAUncertain significance766779919RCV000649417|RCV002499109|RCV002422379|RCV003472042; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO5235272235272NC_000005.9:g.235272G>AClinGen:CA3173109C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1083A>G (p.Lys361=)6389SDHALikely benign1579406203RCV001418893|RCV002427312; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252352772352775:g.235277A>G-
NM_004168.4(SDHA):c.1083_1084insTCT (p.Lys361_Asp362insSer)6389SDHAUncertain significance1735687291RCV001205713; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252352772352785:g.235277_235278insTCT-
NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn)6389SDHAUncertain significance-1RCV003050212; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235277235277NC_000005.9:g.235277A>C-
NM_004168.4(SDHA):c.1084G>T (p.Asp362Tyr)6389SDHAUncertain significance2126584224RCV001360847; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235278235278235278-
NM_004168.4(SDHA):c.1086T>C (p.Asp362=)6389SDHALikely benign2126584236RCV001409209; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235280235280235280-
NM_004168.4(SDHA):c.1087C>G (p.His363Asp)6389SDHAUncertain significance1553999417RCV000649392; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235281235281NC_000005.9:g.235281C>GClinGen:CA359013427C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1087C>T (p.His363Tyr)6389SDHAUncertain significance1553999417RCV001298787; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235281235281235281-
NM_004168.4(SDHA):c.1088A>G (p.His363Arg)6389SDHAUncertain significance-1RCV002297769; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235282235282235282-
NM_004168.4(SDHA):c.1089C>T (p.His363=)6389SDHABenign/Likely benign368488126RCV000423532|RCV000473235|RCV001009877; NMedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252352832352835:g.235283C>TClinGen:CA3173110C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1089C>A (p.His363Gln)6389SDHAUncertain significance368488126RCV001349753; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235283235283235283-
NM_004168.4(SDHA):c.1090G>A (p.Val364Ile)6389SDHAUncertain significance372738835RCV000463908|RCV000561241; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235284235284NC_000005.9:g.235284G>AClinGen:CA3173111C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1090G>C (p.Val364Leu)6389SDHAUncertain significance372738835RCV000535289; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235284235284NC_000005.9:g.235284G>CClinGen:CA359013435C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1092C>T (p.Val364=)6389SDHAConflicting interpretations of pathogenicity886060515RCV000260734|RCV000316002|RCV000355512|RCV002446606; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235286235286NC_000005.9:g.235286C>TClinGen:CA10620256C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.1092C>G (p.Val364=)6389SDHALikely benign886060515RCV000977019; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252352862352865:g.235286C>G-
NM_004168.4(SDHA):c.1096C>T (p.Leu366=)6389SDHALikely benign1305056679RCV001505608; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235290235290235290-
NM_004168.4(SDHA):c.1098G>C (p.Leu366=)6389SDHALikely benign1346189100RCV001405764|RCV003170024; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235292235292235292-
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu)6389SDHAUncertain significance780941330RCV000806830|RCV003166259; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252352932352935:g.235293C>G-
NM_004168.4(SDHA):c.1103_1105del (p.Leu368del)6389SDHAUncertain significance1735689664RCV001044195; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852352952352975:g.235295_235297del-
NM_004168.4(SDHA):c.1101G>A (p.Gln367=)6389SDHALikely benign-1RCV002433073|RCV003101920; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235295235295-
NM_004168.4(SDHA):c.1103T>C (p.Leu368Pro)6389SDHAUncertain significance2126584397RCV002046505; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235297235297235297-
NM_004168.4(SDHA):c.1104G>A (p.Leu368=)6389SDHALikely benign2126584401RCV001417912|RCV002456674; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235298235298235298-
NM_004168.4(SDHA):c.1105C>T (p.His369Tyr)6389SDHAUncertain significance2126584410RCV002002578|RCV002425349; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235299235299235299-
NM_004168.4(SDHA):c.1107C>A (p.His369Gln)6389SDHAUncertain significance1268877544RCV000649425|RCV002458124; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235301235301NC_000005.9:g.235301C>AClinGen:CA359013470C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1108C>A (p.His370Asn)6389SDHAUncertain significance1060503704RCV000464973|RCV003168870; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235302235302NC_000005.9:g.235302C>AClinGen:CA16611954C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1108C>T (p.His370Tyr)6389SDHAUncertain significance1060503704RCV002021688; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235302235302235302-
NM_004168.4(SDHA):c.1110C>T (p.His370=)6389SDHALikely benign1579406318RCV001486585|RCV002427162; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353042353045:g.235304C>T-
NM_004168.4(SDHA):c.1111C>T (p.Leu371=)6389SDHALikely benign1735690368RCV001462106; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852353052353055:g.235305C>T-
NM_004168.4(SDHA):c.1111C>G (p.Leu371Val)6389SDHAUncertain significance1735690368RCV001963487; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235305235305235305-
NM_004168.4(SDHA):c.1113A>G (p.Leu371=)6389SDHALikely benign2126584480RCV001464124; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235307235307235307-
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg)6389SDHAUncertain significance141493530RCV000477582|RCV000575145|RCV001775824|RCV002481482|RCV003147470; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:2520115235309235309NC_000005.9:g.235309C>GClinGen:CA3173113C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1115C>T (p.Pro372Leu)6389SDHAUncertain significance141493530RCV001221573|RCV002436856; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353092353095:g.235309C>T-
NM_004168.4(SDHA):c.1116T>G (p.Pro372=)6389SDHALikely benign1735691014RCV002088573|RCV002434474; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235310235310235310-
NM_004168.4(SDHA):c.1119A>G (p.Pro373=)6389SDHALikely benign1428505412RCV000866761|RCV002434092; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353132353135:g.235313A>G-
NM_004168.4(SDHA):c.1119A>C (p.Pro373=)6389SDHALikely benign1428505412RCV000871881|RCV002434125; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353132353135:g.235313A>C-
NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp)6389SDHAUncertain significance377283167RCV000815226|RCV001569248|RCV002433982; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353162353165:g.235316G>T-
NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter)6389SDHAPathogenic1735691933RCV001063568|RCV002436649; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353172353175:g.235317C>T-
NM_004168.4(SDHA):c.1126C>T (p.Leu376=)6389SDHALikely benign1579406388RCV000926983|RCV002445036; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353202353205:g.235320C>T-
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro)6389SDHAUncertain significance1433477205RCV000821732|RCV001017412|RCV001551721|RCV003447567; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:25201152353212353215:g.235321T>C-
NM_004168.4(SDHA):c.1129G>C (p.Ala377Pro)6389SDHAUncertain significance1735692451RCV001309196; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235323235323235323-
NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp)6389SDHAUncertain significance1553999443RCV000547611; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852353242353245:g.235324C>AClinGen:CA359013518C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1130C>T (p.Ala377Val)6389SDHAUncertain significance1553999443RCV001317575|RCV002322230; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235324235324235324-
NM_004168.4(SDHA):c.1131C>T (p.Ala377=)6389SDHALikely benign2126584661RCV002175720|RCV002325690; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235325235325235325-
NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala)6389SDHAUncertain significance1224187912RCV000820717|RCV002442752; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353262353265:g.235326A>G-
NM_004168.4(SDHA):c.1133dup (p.Arg379fs)6389SDHAPathogenic-1RCV003054135; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235326235327NC_000005.9:g.235327dup-
NM_004168.4(SDHA):c.1133C>T (p.Thr378Met)6389SDHAConflicting interpretations of pathogenicity777420907RCV000649406|RCV001009958; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353272353275:g.235327C>TClinGen:CA3173115C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1134G>A (p.Thr378=)6389SDHALikely benign370002515RCV000461455|RCV001009968; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235328235328NC_000005.9:g.235328G>AClinGen:CA16612055C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1134G>C (p.Thr378=)6389SDHALikely benign370002515RCV002216505|RCV002324549; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235328235328235328-
NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys)6389SDHAUncertain significance749309213RCV000214185|RCV000459361|RCV000514432; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C366190052353292353295:g.235329C>TClinGen:CA3173116C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1136G>A (p.Arg379His)6389SDHAUncertain significance770719847RCV000477473|RCV001009945|RCV002254698; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235330235330NC_000005.9:g.235330G>AClinGen:CA3173117C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1136G>T (p.Arg379Leu)6389SDHAUncertain significance770719847RCV002048420; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235330235330235330-
NM_004168.4(SDHA):c.1138del (p.Leu380fs)6389SDHAPathogenic-1RCV002791318; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235331235331NC_000005.9:g.235332del-
NM_004168.4(SDHA):c.1138C>A (p.Leu380Met)6389SDHAUncertain significance1735694280RCV001301577; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235332235332235332-
NM_004168.4(SDHA):c.1138C>T (p.Leu380=)6389SDHALikely benign-1RCV002801739; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235332235332-
NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg)6389SDHAUncertain significance-1RCV003042606; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235333235333NC_000005.9:g.235333T>G-
NM_004168.4(SDHA):c.1140G>A (p.Leu380=)6389SDHALikely benign146348714RCV000473616|RCV000831510|RCV002455906; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235334235334NC_000005.9:g.235334G>AClinGen:CA16611883C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1140G>C (p.Leu380=)6389SDHALikely benign146348714RCV000871043|RCV002332820; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353342353345:g.235334G>C-
NM_004168.4(SDHA):c.1141C>G (p.Pro381Ala)6389SDHAUncertain significance1735694889RCV001294635; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235335235335235335-
NM_004168.4(SDHA):c.1144_1149dup (p.Gly382_Ile383dup)6389SDHAUncertain significance2126584776RCV002022191; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235336235337235336-
NM_004168.4(SDHA):c.1143T>C (p.Pro381=)6389SDHALikely benign1735695108RCV001457382|RCV002456774; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235337235337235337-
NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser)6389SDHAUncertain significance1272640628RCV000649451|RCV003162972; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235338235338NC_000005.9:g.235338G>AClinGen:CA359013541C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1145G>A (p.Gly382Asp)6389SDHAUncertain significance373067620RCV001963325; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235339235339235339-
NM_004168.4(SDHA):c.1146C>A (p.Gly382=)6389SDHALikely benign768947225RCV000872236|RCV002454016; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353402353405:g.235340C>A-
NM_004168.4(SDHA):c.1147A>G (p.Ile383Val)6389SDHAUncertain significance2126584806RCV001365720; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235341235341235341-
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala)6389SDHAUncertain significance776888362RCV000528318|RCV000765833|RCV002350352; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MOND52353442353445:g.235344T>GClinGen:CA3173121C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)6389SDHAPathogenic151170408RCV000221764|RCV000810033|RCV001799638|RCV002307451|RCV002254689; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D05235345235345NC_000005.9:g.235345C>GClinGen:CA3173122C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1152A>T (p.Ser384=)6389SDHALikely benign2126584840RCV001429506|RCV002350841; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235346235346235346-
NM_004168.4(SDHA):c.1155G>A (p.Glu385=)6389SDHALikely benign765356526RCV000565438|RCV000867238; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252353492353495:g.235349G>AClinGen:CA3173123C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala)6389SDHAUncertain significance1553999461RCV000649410; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235350235350NC_000005.9:g.235350A>GClinGen:CA359013566C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile)6389SDHAUncertain significance773218958RCV000649424|RCV003162971; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235351235351NC_000005.9:g.235351C>TClinGen:CA3173124C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1158A>C (p.Thr386=)6389SDHALikely benign2126584886RCV001396966; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235352235352235352-
NM_004168.4(SDHA):c.1159G>A (p.Ala387Thr)6389SDHAUncertain significance2126584893RCV001931110; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235353235353235353-
NM_004168.4(SDHA):c.1161C>T (p.Ala387=)6389SDHALikely benign-1RCV003084128; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235355235355-
NM_004168.4(SDHA):c.1162A>T (p.Met388Leu)6389SDHAUncertain significance1579406553RCV001981606|RCV003339852; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235356235356235356-
NM_004168.4(SDHA):c.1163T>C (p.Met388Thr)6389SDHAUncertain significance1419241279RCV001983131; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235357235357235357-
NM_004168.4(SDHA):c.1165A>G (p.Ile389Val)6389SDHAUncertain significance1316310818RCV001337806|RCV002322268; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235359235359235359-
NM_004168.4(SDHA):c.1167C>T (p.Ile389=)6389SDHALikely benign2126584963RCV002220838|RCV003339914; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235361235361235361-
NM_004168.4(SDHA):c.1170C>T (p.Phe390=)6389SDHABenign35277230RCV000118312|RCV000163257|RCV000285173|RCV000321449|RCV000379943|RCV000470511|RCV003315676; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5052353642353645:g.235364C>TClinGen:CA155144C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1170C>A (p.Phe390Leu)6389SDHAUncertain significance35277230RCV001227291; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252353642353645:g.235364C>A-
NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser)6389SDHAUncertain significance376597185RCV000536076; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252353652353655:g.235365G>TClinGen:CA359013600C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr)6389SDHAUncertain significance376597185RCV000649414|RCV002331241|RCV003472041; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545235365235365NC_000005.9:g.235365G>AClinGen:CA3173126C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1172C>G (p.Ala391Gly)6389SDHAUncertain significance-1RCV002332241|RCV003094655; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235366235366235366-
NM_004168.4(SDHA):c.1173T>C (p.Ala391=)6389SDHALikely benign1579406627RCV000918088; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252353672353675:g.235367T>C-
NM_004168.4(SDHA):c.1176C>T (p.Gly392=)6389SDHALikely benign1041950RCV000461984|RCV000561058|RCV002475895; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005235370235370NC_000005.9:g.235370C>TClinGen:CA3173128C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1176C>A (p.Gly392=)6389SDHALikely benign1041950RCV002164334; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235370235370235370-
NM_004168.4(SDHA):c.1177G>T (p.Val393Leu)6389SDHAConflicting interpretations of pathogenicity372989971RCV000548710|RCV003139851|RCV001329181|RCV002258966; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,O5235371235371NC_000005.9:g.235371G>TClinGen:CA3173129C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1177G>A (p.Val393Met)6389SDHAConflicting interpretations of pathogenicity372989971RCV001010145|RCV001156141|RCV001156142|RCV001156140|RCV001238661|RCV003432990; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0152353712353715:g.235371G>A-
NM_004168.4(SDHA):c.1177G>C (p.Val393Leu)6389SDHAUncertain significance372989971RCV001038411; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852353712353715:g.235371G>C-
NM_004168.4(SDHA):c.1182C>T (p.Asp394=)6389SDHALikely benign377317558RCV000232577|RCV002338728|RCV003316269; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252353762353765:g.235376C>TClinGen:CA3173131C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu)6389SDHAUncertain significance-1RCV003042586; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235376235376NC_000005.9:g.235376C>A-
NM_004168.4(SDHA):c.1183G>T (p.Val395Phe)6389SDHAUncertain significance748683825RCV000524573|RCV002330948; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235377235377NC_000005.9:g.235377G>TClinGen:CA359013622C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile)6389SDHAUncertain significance748683825RCV000649396|RCV001788309|RCV002334184|RCV003472039; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|5235377235377NC_000005.9:g.235377G>AClinGen:CA3173132C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1185C>G (p.Val395=)6389SDHALikely benign2126585130RCV001456990; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235379235379235379-
NM_004168.4(SDHA):c.1187C>T (p.Thr396Met)6389SDHAUncertain significance757251714RCV000571028|RCV000706201; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235381235381NC_000005.9:g.235381C>TClinGen:CA3173133C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1188G>A (p.Thr396=)6389SDHAConflicting interpretations of pathogenicity778667374RCV000541698|RCV001010227|RCV001156143|RCV001156144|RCV001157830; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|M52353822353825:g.235382G>AClinGen:CA3173134C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1190A>G (p.Lys397Arg)6389SDHAUncertain significance745798689RCV000561376|RCV001853800; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252353842353845:g.235384A>GClinGen:CA359013635C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1190A>C (p.Lys397Thr)6389SDHAUncertain significance745798689RCV001342100|RCV003294348; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235384235384235384-
NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn)6389SDHAUncertain significance1035794713RCV000817414|RCV001843554|RCV002336693; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353852353855:g.235385G>C-
NM_004168.4(SDHA):c.1194G>A (p.Glu398=)6389SDHALikely benign1735703214RCV002086013|RCV003339921; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235388235388235388-
NM_004168.4(SDHA):c.1195C>T (p.Pro399Ser)6389SDHAUncertain significance2126585242RCV001963848; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235389235389235389-
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu)6389SDHAUncertain significance878854625RCV000226409|RCV000663203|RCV001010179; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353902353905:g.235390C>TClinGen:CA10582427C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1196C>A (p.Pro399Gln)6389SDHAUncertain significance878854625RCV000570997|RCV000658024|RCV001221392; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235390235390NC_000005.9:g.235390C>AClinGen:CA359013648
NM_004168.4(SDHA):c.1197G>A (p.Pro399=)6389SDHALikely benign771919335RCV000474220|RCV002341120; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235391235391NC_000005.9:g.235391G>AClinGen:CA3173136C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1197G>T (p.Pro399=)6389SDHALikely benign771919335RCV000877457|RCV002336858; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353912353915:g.235391G>T-
NM_004168.4(SDHA):c.1199T>A (p.Ile400Asn)6389SDHAUncertain significance876660886RCV000216966|RCV001041220; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252353932353935:g.235393T>AClinGen:CA10578629C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1200C>T (p.Ile400=)6389SDHALikely benign748383004RCV001413784|RCV002350797; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235394235394235394-
NM_004168.4(SDHA):c.1201C>T (p.Pro401Ser)6389SDHAUncertain significance1560996818RCV001301498|RCV003166697; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235395235395235395-
NM_004168.4(SDHA):c.1203T>C (p.Pro401=)6389SDHALikely benign1553999484RCV000649484|RCV002343345; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252353972353975:g.235397T>CClinGen:CA442692008C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1203T>G (p.Pro401=)6389SDHALikely benign-1RCV002351946|RCV003096789; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235397235397-
NM_004168.4(SDHA):c.1204G>C (p.Val402Leu)6389SDHAUncertain significance2126585344RCV001914109|RCV002344046; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235398235398235398-
NM_004168.4(SDHA):c.1205T>G (p.Val402Gly)6389SDHAUncertain significance2126585353RCV001359427; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235399235399235399-
NM_004168.4(SDHA):c.1206C>T (p.Val402=)6389SDHALikely benign1183961449RCV000555221|RCV002350353; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235400235400NC_000005.9:g.235400C>TClinGen:CA442692010C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1206C>G (p.Val402=)6389SDHALikely benign-1RCV002598619; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235400235400-
NM_004168.4(SDHA):c.1207C>T (p.Leu403Phe)6389SDHAUncertain significance-1RCV002706300; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235401235401NC_000005.9:g.235401C>T-
NM_004168.4(SDHA):c.1209C>A (p.Leu403=)6389SDHALikely benign2126585389RCV002197842|RCV002346384; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235403235403235403-
NM_004168.4(SDHA):c.1209C>T (p.Leu403=)6389SDHALikely benign-1RCV002359621|RCV003103229; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235403235403-
NM_004168.4(SDHA):c.1210C>T (p.Pro404Ser)6389SDHAUncertain significance769936006RCV001299758; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235404235404235404-
NM_004168.4(SDHA):c.1212C>A (p.Pro404=)6389SDHALikely benign1579406812RCV001462181|RCV002354729; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252354062354065:g.235406C>A-
NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn)6389SDHAUncertain significance1553999491RCV000526540|RCV002358582; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252354082354085:g.235408C>AClinGen:CA359013681C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1214C>T (p.Thr405Ile)6389SDHAUncertain significance-1RCV002295255; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235408235408235408-
NM_004168.4(SDHA):c.1215C>T (p.Thr405=)6389SDHALikely benign762888704RCV000229253|RCV001010329; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252354092354095:g.235409C>TClinGen:CA3173141C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1215C>A (p.Thr405=)6389SDHAConflicting interpretations of pathogenicity762888704RCV001066932|RCV002355087; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252354092354095:g.235409C>A-
NM_004168.4(SDHA):c.1216G>A (p.Val406Met)6389SDHAUncertain significance1258201485RCV000562001|RCV000649439; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252354102354105:g.235410G>AClinGen:CA359013684C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1220A>G (p.His407Arg)6389SDHAConflicting interpretations of pathogenicity374087393RCV001010388|RCV001862768; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252354142354145:g.235414A>G-
NM_004168.4(SDHA):c.1220A>T (p.His407Leu)6389SDHAUncertain significance374087393RCV001318441; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235414235414235414-
NM_004168.4(SDHA):c.1221T>C (p.His407=)6389SDHALikely benign2126585516RCV002175136; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235415235415235415-
NM_004168.4(SDHA):c.1225A>C (p.Asn409His)6389SDHAUncertain significance1404377989RCV000539132|RCV001010422; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252354192354195:g.235419A>CClinGen:CA359013704C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1225A>T (p.Asn409Tyr)6389SDHAUncertain significance-1RCV002765474; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235419235419NC_000005.9:g.235419A>T-
NM_004168.4(SDHA):c.1227C>T (p.Asn409=)6389SDHALikely benign2126585562RCV001457627|RCV002377768; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235421235421235421-
NM_004168.4(SDHA):c.1228A>G (p.Met410Val)6389SDHAUncertain significance876658852RCV000213886|RCV001312342; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252354222354225:g.235422A>GClinGen:CA10578630C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1229T>C (p.Met410Thr)6389SDHAUncertain significance1553999505RCV000556000; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235423235423NC_000005.9:g.235423T>CClinGen:CA359013716C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1230G>C (p.Met410Ile)6389SDHAUncertain significance1735707028RCV001325014; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235424235424235424-
NM_004168.4(SDHA):c.1231G>A (p.Gly411Ser)6389SDHAUncertain significance2126585602RCV001897788; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235425235425235425-
NM_004168.4(SDHA):c.1233C>T (p.Gly411=)6389SDHALikely benign376530094RCV000468789|RCV000569519|RCV001821384; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN1693745235427235427NC_000005.9:g.235427C>TClinGen:CA3173143C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1233C>A (p.Gly411=)6389SDHALikely benign376530094RCV000532183|RCV002377145; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252354272354275:g.235427C>AClinGen:CA3173144C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys)6389SDHAUncertain significance768055345RCV000233529|RCV000570013|RCV003475065; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545235428235428NC_000005.9:g.235428G>TClinGen:CA3173146C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser)6389SDHAUncertain significance768055345RCV000544502|RCV000564411|RCV002291665|RCV003451191|RCV003319374|RCV003476306; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|5235428235428NC_000005.9:g.235428G>AClinGen:CA3173145C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1236C>T (p.Gly412=)6389SDHALikely benign-1RCV002863274; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235430235430-
NM_004168.4(SDHA):c.1240C>T (p.Pro414Ser)6389SDHAUncertain significance1735708028RCV002017046|RCV002386906; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235434235434235434-
NM_004168.4(SDHA):c.1240C>G (p.Pro414Ala)6389SDHAUncertain significance1735708028RCV002035714; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235434235434235434-
NM_004168.4(SDHA):c.1241CCA[1] (p.Thr415del)6389SDHAUncertain significance2126585682RCV001976281; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235435235437235434-
NM_004168.4(SDHA):c.1242C>T (p.Pro414=)6389SDHALikely benign777306884RCV000227375|RCV000987495|RCV001010504|RCV003437020; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|M52354362354365:g.235436C>TClinGen:CA3173147C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1245dup (p.Asn416fs)6389SDHAPathogenic2126585710RCV001893983; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235437235438235437-
NM_004168.4(SDHA):c.1243A>G (p.Thr415Ala)6389SDHAUncertain significance2126585699RCV001917056; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235437235437235437-
NM_004168.4(SDHA):c.1245C>G (p.Thr415=)6389SDHALikely benign2126585715RCV002203900; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235439235439235439-
NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp)6389SDHAUncertain significance1355851620RCV000796276|RCV001010533|RCV003472347; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452354402354405:g.235440A>G-
NM_004168.4(SDHA):c.1247A>T (p.Asn416Ile)6389SDHAUncertain significance1409603646RCV001216224|RCV002393508; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252354412354415:g.235441A>T-
NM_004168.4(SDHA):c.1247A>G (p.Asn416Ser)6389SDHAUncertain significance-1RCV002815280; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235441235441NC_000005.9:g.235441A>G-
NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys)6389SDHAUncertain significance528628545RCV000531820|RCV002413603; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235444235444NC_000005.9:g.235444A>GClinGen:CA3173148C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu)6389SDHAUncertain significance-1RCV002303880|RCV002409646|RCV003475333; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545235446235446235446-
NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg)6389SDHAUncertain significance1735709331RCV001237926|RCV001799749|RCV002411878|RCV003473815; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:001552354492354495:g.235449G>A-
NM_004168.4(SDHA):c.1257G>A (p.Gly419=)6389SDHALikely benign753410011RCV000474023|RCV001010368; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235451235451NC_000005.9:g.235451G>AClinGen:CA3173149C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1257G>T (p.Gly419=)6389SDHALikely benign753410011RCV002095586|RCV002423351; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235451235451235451-
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter)6389SDHAPathogenic1579407009RCV000792416|RCV003453639; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252354522354525:g.235452C>T-
NM_004168.4(SDHA):c.1259A>G (p.Gln420Arg)6389SDHAUncertain significance1735709829RCV001342075|RCV002412074; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235453235453235453-
NM_004168.4(SDHA):c.1260G>A (p.Gln420=)6389SDHAUncertain significance-1RCV002412599|RCV003099922; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235454235454-
NM_004168.4(SDHA):c.1260+1G>A6389SDHALikely pathogenic1735710012RCV001052460|RCV003473649; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452354552354555:g.235455G>A-
NM_004168.4(SDHA):c.1260+2T>A6389SDHALikely pathogenic1735710103RCV001055477|RCV003238290; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C366190052354562354565:g.235456T>A-
NM_004168.4(SDHA):c.1260+3G>T6389SDHAUncertain significance2126585827RCV001371369; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235457235457235457-
NM_004168.4(SDHA):c.1260+4A>G6389SDHAUncertain significance1060503702RCV000456569|RCV002429555; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625235458235458NC_000005.9:g.235458A>GClinGen:CA16611960C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1260+6G>A6389SDHAUncertain significance2126585843RCV001982649; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235460235460235460-
NM_004168.4(SDHA):c.1260+8T>A6389SDHALikely benign1325588204RCV000649474; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235462235462NC_000005.9:g.235462T>AClinGen:CA557397594C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1260+8T>G6389SDHALikely benign-1RCV002604008; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235462235462NC_000005.9:g.235462T>G-
NM_004168.4(SDHA):c.1260+9G>T6389SDHALikely benign1060505003RCV000468116; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235463235463NC_000005.9:g.235463G>TClinGen:CA16611884C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1260+10C>T6389SDHALikely benign1300688046RCV002167539; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235464235464235464-
NM_004168.4(SDHA):c.1260+12G>A6389SDHALikely benign-1RCV002592955; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235466235466NC_000005.9:g.235466G>A-
NM_004168.4(SDHA):c.1260+13G>T6389SDHABenign/Likely benign185239026RCV000605596|RCV002066547; NMedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852354672354675:g.235467G>TClinGen:CA3173150CN169374 not specified;
NM_004168.4(SDHA):c.1260+14C>T6389SDHALikely benign1237313111RCV002200675; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235468235468235468-
NM_004168.4(SDHA):c.1260+15T>C6389SDHALikely benign778457213RCV002176777; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235469235469235469-
NM_004168.4(SDHA):c.1260+16C>T6389SDHALikely benign2126585898RCV002168426; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235470235470235470-
NM_004168.4(SDHA):c.1260+17C>G6389SDHALikely benign750384205RCV002116772; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085235471235471235471-
NM_004168.4(SDHA):c.1260+17C>T6389SDHALikely benign750384205RCV002166528; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235471235471235471-
NM_004168.4(SDHA):c.1260+18T>A6389SDHALikely benign-1RCV003053226; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235472235472NC_000005.9:g.235472T>A-
NM_004168.4(SDHA):c.1260+18T>C6389SDHALikely benign-1RCV002863476; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235472235472NC_000005.9:g.235472T>C-
NM_004168.4(SDHA):c.1260+23dup6389SDHABenign-1RCV003031103; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235472235473NC_000005.9:g.235477dup-
NM_004168.4(SDHA):c.1260+19C>T6389SDHALikely benign1735711604RCV002112501; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235473235473235473-
NM_004168.4(SDHA):c.1260+20C>T6389SDHALikely benign779828602RCV002171169; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725235474235474235474-
NM_004168.4(SDHA):c.1261-19G>T6389SDHALikely benign-1RCV003038635; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236524236524NC_000005.9:g.236524G>T-
NM_004168.4(SDHA):c.1261-17A>T6389SDHALikely benign-1RCV002583541; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236526236526NC_000005.9:g.236526A>T-
NM_004168.4(SDHA):c.1261-16A>T6389SDHALikely benign1170006255RCV002149782; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236527236527236527-
NM_004168.4(SDHA):c.1261-11C>G6389SDHALikely benign2126589164RCV002168540; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236532236532236532-
NM_004168.4(SDHA):c.1261-10C>G6389SDHALikely benign1579409244RCV001408277; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252365332365335:g.236533C>G-
NM_004168.4(SDHA):c.1261-10C>T6389SDHALikely benign1579409244RCV002198179; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236533236533236533-
NM_004168.4(SDHA):c.1261-9T>A6389SDHAUncertain significance1553999698RCV000649452; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236534236534NC_000005.9:g.236534T>AClinGen:CA658796488C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1261-9T>C6389SDHALikely benign1553999698RCV001399597; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236534236534236534-
NM_004168.4(SDHA):c.1261-7T>A6389SDHALikely benign1423583851RCV001047440; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852365362365365:g.236536T>A-
NM_004168.4(SDHA):c.1261-7T>G6389SDHALikely benign1423583851RCV001359103; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236536236536236536-
NM_004168.4(SDHA):c.1261-5C>A6389SDHALikely benign751471707RCV000649479; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236538236538NC_000005.9:g.236538C>AClinGen:CA3173177C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1261-4A>T6389SDHALikely benign1553999703RCV000544427; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236539236539NC_000005.9:g.236539A>TClinGen:CA658657410C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1261-4A>G6389SDHAConflicting interpretations of pathogenicity1553999703RCV001481591|RCV002439151; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236539236539236539-
NM_004168.4(SDHA):c.1261-3C>T6389SDHAConflicting interpretations of pathogenicity1553999705RCV000649473|RCV002440351; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252365402365405:g.236540C>TClinGen:CA658796490C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1261-2A>G6389SDHALikely pathogenic1579409293RCV000822495|RCV003307557|RCV003453730; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252365412365415:g.236541A>G-
NM_004168.4(SDHA):c.1261-1G>A6389SDHALikely pathogenic1735779936RCV001205972; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252365422365425:g.236542G>A-
NM_004168.4(SDHA):c.1263C>T (p.Val421=)6389SDHALikely benign2126589252RCV002131230|RCV002443236; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236545236545236545-
NM_004168.4(SDHA):c.1264C>T (p.Leu422=)6389SDHALikely benign1405485459RCV002131104|RCV002443235; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236546236546236546-
NM_004168.4(SDHA):c.1271A>G (p.His424Arg)6389SDHAUncertain significance1579409312RCV001010658|RCV001860645; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252365532365535:g.236553A>G-
NM_004168.4(SDHA):c.1272C>G (p.His424Gln)6389SDHAUncertain significance754805626RCV000477192|RCV000521376|RCV001010677; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236554236554NC_000005.9:g.236554C>GClinGen:CA3173178C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1272C>T (p.His424=)6389SDHALikely benign754805626RCV000556683|RCV000561553; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252365542365545:g.236554C>TClinGen:CA3173179C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1273G>A (p.Val425Met)6389SDHAUncertain significance201822097RCV000231334|RCV000569607|RCV000663187|RCV001753700|RCV002503907|RCV003475066; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|52365552365555:g.236555G>AClinGen:CA3173181C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1273G>T (p.Val425Leu)6389SDHAUncertain significance201822097RCV000532863|RCV000573766; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236555236555NC_000005.9:g.236555G>TClinGen:CA3173180C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1276A>C (p.Asn426His)6389SDHAUncertain significance1735781689RCV001901493; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236558236558236558-
NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser)6389SDHAUncertain significance1060503725RCV000463371; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236559236559NC_000005.9:g.236559A>GClinGen:CA16611963C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1278T>C (p.Asn426=)6389SDHALikely benign2126589395RCV002089352; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236560236560236560-
NM_004168.4(SDHA):c.1280G>T (p.Gly427Val)6389SDHAUncertain significance1735782215RCV001203852; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252365622365625:g.236562G>T-
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)6389SDHAPathogenic-1RCV002289321|RCV003097776|RCV003340474|RCV003475330; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|5236562236577236561-
NM_004168.4(SDHA):c.1281C>T (p.Gly427=)6389SDHALikely benign561918468RCV000570135|RCV000792107; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236563236563NC_000005.9:g.236563C>TClinGen:CA3173182C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1284G>C (p.Gln428His)6389SDHAUncertain significance1735782951RCV001961029; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236566236566236566-
NM_004168.4(SDHA):c.1285G>A (p.Asp429Asn)6389SDHAUncertain significance988419580RCV001866324|RCV003289124; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236567236567236567-
NM_004168.4(SDHA):c.1287T>G (p.Asp429Glu)6389SDHAUncertain significance-1RCV002846176; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236569236569NC_000005.9:g.236569T>G-
NM_004168.4(SDHA):c.1290G>A (p.Gln430=)6389SDHALikely benign772728779RCV000545202|RCV002384220; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252365722365725:g.236572G>AClinGen:CA442692072C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1291A>G (p.Ile431Val)6389SDHAConflicting interpretations of pathogenicity1579409384RCV000796031|RCV003307439; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252365732365735:g.236573A>G-
NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr)6389SDHAUncertain significance776188923RCV000461342|RCV002383838; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236574236574NC_000005.9:g.236574T>CClinGen:CA3173184C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1294G>A (p.Val432Met)6389SDHAUncertain significance2126589526RCV001362125; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236576236576236576-
NM_004168.4(SDHA):c.1295T>C (p.Val432Ala)6389SDHAUncertain significance1490844767RCV001372668|RCV002384540; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236577236577236577-
NM_004168.4(SDHA):c.1296G>T (p.Val432=)6389SDHALikely benign1223308548RCV002198178; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236578236578236578-
NM_004168.4(SDHA):c.1296G>A (p.Val432=)6389SDHALikely benign-1RCV003095824; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236578236578-
NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser)6389SDHAUncertain significance1560998056RCV000687479; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252365792365795:g.236579C>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu)6389SDHAUncertain significance747488969RCV000649415|RCV002386095; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236580236580NC_000005.9:g.236580C>TClinGen:CA3173185C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1299C>T (p.Pro433=)6389SDHALikely benign144473374RCV000233072|RCV000566607; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236581236581NC_000005.9:g.236581C>TClinGen:CA3173186C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser)6389SDHAUncertain significance529198317RCV000557736|RCV001010859|RCV003327419; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190052365822365825:g.236582G>AClinGen:CA3173187C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1300G>C (p.Gly434Arg)6389SDHAUncertain significance529198317RCV001878075; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236582236582236582-
NM_004168.4(SDHA):c.1302C>T (p.Gly434=)6389SDHALikely benign1579409486RCV001211773; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252365842365845:g.236584C>T-
NM_004168.4(SDHA):c.1304T>A (p.Leu435Gln)6389SDHAUncertain significance1579409500RCV001010873|RCV002549330; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252365862365865:g.236586T>A-
NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg)6389SDHAUncertain significance1579409500RCV001957990|RCV002386771; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236586236586236586-
NM_004168.4(SDHA):c.1304T>C (p.Leu435Pro)6389SDHAUncertain significance1579409500RCV001895333; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236586236586236586-
NM_004168.4(SDHA):c.1305G>T (p.Leu435=)6389SDHAConflicting interpretations of pathogenicity35964044RCV000210529|RCV000291485|RCV000346462|RCV000376037|RCV000242588|RCV000565630|RCV003114371|RCV003316166; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO5236587236587NC_000005.9:g.236587G>TClinGen:CA358583C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1305G>C (p.Leu435=)6389SDHALikely benign35964044RCV000533635|RCV002384221; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236587236587NC_000005.9:g.236587G>CClinGen:CA442692084C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1305G>A (p.Leu435=)6389SDHALikely benign35964044RCV001010877|RCV001410811; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252365872365875:g.236587G>A-
NM_004168.4(SDHA):c.1306T>C (p.Tyr436His)6389SDHAUncertain significance772729820RCV001206499|RCV002379782; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252365882365885:g.236588T>C-
NM_004168.4(SDHA):c.1316_1330dup (p.Gly439_Cys443dup)6389SDHAUncertain significance768469627RCV000570645|RCV001858148; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252365892365905:g.236589_236590insCGCCTGTGGGGAGGCClinGen:CA658657411C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1308C>T (p.Tyr436=)6389SDHALikely benign762494024RCV000550792|RCV001010906|RCV003316718; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236590236590NC_000005.9:g.236590C>TClinGen:CA3173191C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1309G>A (p.Ala437Thr)6389SDHAUncertain significance1553999731RCV000649418|RCV002386096; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252365912365915:g.236591G>AClinGen:CA359013896C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1311C>T (p.Ala437=)6389SDHALikely benign377506772RCV000563511|RCV000649480; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252365932365935:g.236593C>TClinGen:CA3173192C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe)6389SDHAUncertain significance1424809160RCV000649397|RCV002386094; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252365952365955:g.236595G>TClinGen:CA359013907C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1313G>C (p.Cys438Ser)6389SDHAUncertain significance1424809160RCV001295683|RCV002379989; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236595236595236595-
NM_004168.4(SDHA):c.1315G>A (p.Gly439Arg)6389SDHAUncertain significance1579409601RCV001201712; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252365972365975:g.236597G>A-
NM_004168.4(SDHA):c.1316G>A (p.Gly439Glu)6389SDHAUncertain significance374086655RCV001224984|RCV003380908; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252365982365985:g.236598G>A-
NM_004168.4(SDHA):c.1318G>A (p.Glu440Lys)6389SDHAUncertain significance1735789566RCV001956896|RCV002386828; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236600236600236600-
NM_004168.4(SDHA):c.1319A>G (p.Glu440Gly)6389SDHAUncertain significance1735789704RCV001236035; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252366012366015:g.236601A>G-
NM_004168.4(SDHA):c.1319A>T (p.Glu440Val)6389SDHAUncertain significance1735789704RCV001321130; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236601236601236601-
NM_004168.4(SDHA):c.1319A>C (p.Glu440Ala)6389SDHAUncertain significance-1RCV002302872; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236601236601236601-
NM_004168.4(SDHA):c.1320G>A (p.Glu440=)6389SDHALikely benign2126589773RCV001446278|RCV002384689; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236602236602236602-
NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp)6389SDHAUncertain significance-1RCV003043996; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236602236602NC_000005.9:g.236602G>C-
NM_004168.4(SDHA):c.1321G>C (p.Ala441Pro)6389SDHAUncertain significance-1RCV002302051; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236603236603236603-
NM_004168.4(SDHA):c.1323C>T (p.Ala441=)6389SDHALikely benign751561561RCV000574438|RCV000878525|RCV003316747; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236605236605NC_000005.9:g.236605C>TClinGen:CA3173193C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1323C>G (p.Ala441=)6389SDHALikely benign751561561RCV001464722; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236605236605236605-
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr)6389SDHAUncertain significance754893758RCV000649436|RCV001011018|RCV002507115; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M5236606236606NC_000005.9:g.236606G>AClinGen:CA3173194C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1324G>T (p.Ala442Ser)6389SDHAUncertain significance754893758RCV001971299; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236606236606236606-
NM_004168.4(SDHA):c.1326C>T (p.Ala442=)6389SDHALikely benign2126589832RCV001438344|RCV002384665; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236608236608236608-
NM_004168.4(SDHA):c.1327T>C (p.Cys443Arg)6389SDHAUncertain significance2126589848RCV001990756; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236609236609236609-
NM_004168.4(SDHA):c.1329T>C (p.Cys443=)6389SDHALikely benign2126589870RCV001457888|RCV002384720; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236611236611236611-
NM_004168.4(SDHA):c.1330_1331delinsTT (p.Ala444Phe)6389SDHAUncertain significance1735790227RCV001327910; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236612236613236612-
NM_004168.4(SDHA):c.1332C>G (p.Ala444=)6389SDHALikely benign1060505011RCV000466826|RCV001011097; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236614236614NC_000005.9:g.236614C>GClinGen:CA16611968C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu)6389SDHAConflicting interpretations of pathogenicity1296066077RCV000559654|RCV001011108|RCV003237919|RCV003476307; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:61364252366162366165:g.236616C>TClinGen:CA359013953C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1335G>T (p.Ser445=)6389SDHALikely benign200223188RCV000465382|RCV001010829|RCV003437226; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005236617236617NC_000005.9:g.236617G>TClinGen:CA3173195C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1335G>A (p.Ser445=)6389SDHALikely benign200223188RCV000703828|RCV001010827; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252366172366175:g.236617G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1336G>A (p.Val446Ile)6389SDHAUncertain significance-1RCV002705297; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236618236618NC_000005.9:g.236618G>A-
NM_004168.4(SDHA):c.1338del (p.His447fs)6389SDHAPathogenic1735791499RCV001093471|RCV001211082|RCV003336306; NMedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252366202366205:g.236620_236620del-
NM_004168.4(SDHA):c.1339C>T (p.His447Tyr)6389SDHAUncertain significance2126589966RCV001914544; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236621236621236621-
NM_004168.4(SDHA):c.1340A>G (p.His447Arg)6389SDHAConflicting interpretations of pathogenicity779151375RCV000649422|RCV000770776|RCV001552485|RCV003472043; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:61364252366222366225:g.236622A>GClinGen:CA3173198C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1340A>C (p.His447Pro)6389SDHAUncertain significance779151375RCV001350157; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236622236622236622-
NM_004168.4(SDHA):c.1341T>C (p.His447=)6389SDHALikely benign2126589989RCV001493357|RCV002384814; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236623236623236623-
NM_004168.4(SDHA):c.1342G>A (p.Gly448Ser)6389SDHAUncertain significance1064795863RCV000483463|RCV001851236; NMedGen:CN517202|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236624236624NC_000005.9:g.236624G>AClinGen:CA16618196
NM_004168.4(SDHA):c.1344T>C (p.Gly448=)6389SDHABenign/Likely benign551497992RCV000467921|RCV000571567; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236626236626NC_000005.9:g.236626T>CClinGen:CA3173200C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1345G>A (p.Ala449Thr)6389SDHAUncertain significance1485193902RCV001344676; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236627236627236627-
NM_004168.4(SDHA):c.1345G>C (p.Ala449Pro)6389SDHAUncertain significance-1RCV002387815|RCV003095007; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236627236627236627-
NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly)6389SDHAUncertain significance201139275RCV000575726|RCV000535887; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852366282366285:g.236628C>GClinGen:CA359013974C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser)6389SDHAUncertain significance1579409723RCV000819929|RCV002381857|RCV003473505; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452366312366315:g.236631A>G-
NM_004168.4(SDHA):c.1350C>T (p.Asn450=)6389SDHALikely benign533902090RCV000565044|RCV000649477; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236632236632NC_000005.9:g.236632C>TClinGen:CA3173202C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys)6389SDHAConflicting interpretations of pathogenicity1553999752RCV000521022|RCV001063769|RCV001363197|RCV001799673|RCV002384004|RCV003152716; NMedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D045236633236633NC_000005.9:g.236633C>TClinGen:CA359013985,OMIM:600857.0011
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser)6389SDHAConflicting interpretations of pathogenicity1553999752RCV001265565|RCV001244671|RCV002379936; N|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252366332366335:g.236633C>A-
NM_004168.4(SDHA):c.1352G>A (p.Arg451His)6389SDHAConflicting interpretations of pathogenicity370690436RCV000705227|RCV001594402|RCV002256488|RCV002536395; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Me52366342366345:g.236634G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1353C>G (p.Arg451=)6389SDHALikely benign555342133RCV000566165|RCV000649481; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252366352366355:g.236635C>GClinGen:CA3173204C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe)6389SDHAUncertain significance1064796477RCV000479013|RCV000569661|RCV000793091; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236636236636NC_000005.9:g.236636C>TClinGen:CA16618197
NM_004168.4(SDHA):c.1355T>C (p.Leu452Pro)6389SDHAUncertain significance1735794275RCV001321882; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236637236637236637-
NM_004168.4(SDHA):c.1356C>T (p.Leu452=)6389SDHALikely benign748496836RCV000420514|RCV000464405|RCV000567112; NMedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252366382366385:g.236638C>TClinGen:CA3173205C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg)6389SDHAUncertain significance770028533RCV000548237|RCV001011154|RCV003476308; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545236639236639NC_000005.9:g.236639G>AClinGen:CA3173206C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu)6389SDHAUncertain significance1169286790RCV000793933; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252366402366405:g.236640G>A-
NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser)6389SDHAUncertain significance1057517550RCV000704760; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236642236642NC_000005.9:g.236642G>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu)6389SDHAUncertain significance1553999766RCV000528914|RCV002384222; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236643236643NC_000005.9:g.236643C>AClinGen:CA359014000C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1365C>T (p.Asn455=)6389SDHALikely benign1579409853RCV001011058|RCV002068835; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252366472366475:g.236647C>T-
NM_004168.4(SDHA):c.1366T>G (p.Ser456Ala)6389SDHAUncertain significance-1RCV002671393; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236648236648NC_000005.9:g.236648T>G-
NM_004168.4(SDHA):c.1367C>T (p.Ser456Leu)6389SDHAConflicting interpretations of pathogenicity76896145RCV000649467|RCV001354634|RCV002386098; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252366492366495:g.236649C>TClinGen:CA3173208C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)6389SDHAConflicting interpretations of pathogenicity149875171RCV000210523|RCV000247565|RCV000570838|RCV001080809|RCV001157831|RCV001157832|RCV001157833|RCV003316163; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0025236650236650NC_000005.9:g.236650G>AClinGen:CA358579C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1370T>A (p.Leu457His)6389SDHAUncertain significance1579409887RCV001011188|RCV002298821|RCV003473566; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452366522366525:g.236652T>A-
NM_004168.4(SDHA):c.1371C>A (p.Leu457=)6389SDHABenign/Likely benign75091805RCV001512875|RCV002258297; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236653236653236653-
NM_004168.4(SDHA):c.1371C>G (p.Leu457=)6389SDHALikely benign75091805RCV002142112; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236653236653236653-
NM_004168.4(SDHA):c.1374G>A (p.Leu458=)6389SDHAUncertain significance1735797053RCV001060517; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252366562366565:g.236656G>A-
NM_004168.4(SDHA):c.1375G>C (p.Asp459His)6389SDHAUncertain significance1735797208RCV001042958|RCV002256652; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252366572366575:g.236657G>C-
NM_004168.4(SDHA):c.1376A>G (p.Asp459Gly)6389SDHAUncertain significance2126590273RCV001364342; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236658236658236658-
NM_004168.4(SDHA):c.1377C>T (p.Asp459=)6389SDHALikely benign1579409909RCV000924630|RCV003307696; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252366592366595:g.236659C>T-
NM_004168.4(SDHA):c.1378C>T (p.Leu460=)6389SDHALikely benign760686493RCV000541221|RCV000573583|RCV002476187; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005236660236660NC_000005.9:g.236660C>TClinGen:CA3173210C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1380G>A (p.Leu460=)6389SDHALikely benign-1RCV003046708; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236662236662-
NM_004168.4(SDHA):c.1381G>T (p.Val461Phe)6389SDHAUncertain significance373021394RCV001011289|RCV001223002; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252366632366635:g.236663G>T-
NM_004168.4(SDHA):c.1382T>C (p.Val461Ala)6389SDHAUncertain significance767452676RCV000649421|RCV002386097; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252366642366645:g.236664T>CClinGen:CA3173211C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1387T>C (p.Phe463Leu)6389SDHAUncertain significance-1RCV002843615; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236669236669NC_000005.9:g.236669T>C-
NM_004168.4(SDHA):c.1389T>C (p.Phe463=)6389SDHALikely benign2126590369RCV001395196; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236671236671236671-
NM_004168.4(SDHA):c.1390G>A (p.Gly464Ser)6389SDHAUncertain significance2126590387RCV001993894; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236672236672236672-
NM_004168.4(SDHA):c.1390G>C (p.Gly464Arg)6389SDHAUncertain significance-1RCV002838852; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236672236672NC_000005.9:g.236672G>C-
NM_004168.4(SDHA):c.1392T>G (p.Gly464=)6389SDHALikely benign1579409940RCV001417559; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252366742366745:g.236674T>G-
NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp)6389SDHAUncertain significance752461029RCV000227745|RCV001011310|RCV003475067; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545236675236675NC_000005.9:g.236675C>TClinGen:CA3173212C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1393C>A (p.Arg465=)6389SDHALikely benign752461029RCV001220483; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252366752366755:g.236675C>A-
NM_004168.4(SDHA):c.1394G>A (p.Arg465Gln)6389SDHAConflicting interpretations of pathogenicity138277996RCV000865554|RCV001011316|RCV001547986; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190052366762366765:g.236676G>A-
NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser)6389SDHAUncertain significance111387770RCV000525154; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852366782366785:g.236678G>TClinGen:CA359014067C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr)6389SDHAConflicting interpretations of pathogenicity111387770RCV000549321|RCV000574670|RCV001528282|RCV001572933; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C36619005236678236678NC_000005.9:g.236678G>AClinGen:CA3173214C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1397dup (p.Cys467fs)6389SDHAPathogenic1735798915RCV001061275; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252366782366795:g.236678_236679insC-
NM_004168.4(SDHA):c.1396G>C (p.Ala466Pro)6389SDHAUncertain significance-1RCV002295188; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236678236678236678-
NM_004168.4(SDHA):c.1398A>G (p.Ala466=)6389SDHALikely benign878854626RCV001458162|RCV002392697; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252366802366805:g.236680A>GClinGen:CA10582428C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1398A>C (p.Ala466=)6389SDHALikely benign878854626RCV001465001; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252366802366805:g.236680A>C-
NM_004168.4(SDHA):c.1403C>T (p.Ala468Val)6389SDHAUncertain significance1057524636RCV001364058; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236685236685236685-
NM_004168.4(SDHA):c.1408A>C (p.Ser470Arg)6389SDHAUncertain significance1735799664RCV001295152; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236690236690236690-
NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn)6389SDHAUncertain significance1241820374RCV000812060|RCV001011430; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252366912366915:g.236691G>A-
NM_004168.4(SDHA):c.1409G>T (p.Ser470Ile)6389SDHAUncertain significance-1RCV002296840; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236691236691236691-
NM_004168.4(SDHA):c.1410C>T (p.Ser470=)6389SDHALikely benign556476038RCV000542300|RCV001011405|RCV003316719; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252366922366925:g.236692C>TClinGen:CA3173215C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1411A>G (p.Ile471Val)6389SDHAUncertain significance1735800203RCV001230166; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252366932366935:g.236693A>G-
NM_004168.4(SDHA):c.1413C>T (p.Ile471=)6389SDHAConflicting interpretations of pathogenicity34779890RCV000210520|RCV000437200|RCV000562445|RCV001157834|RCV001152356|RCV001152357|RCV001579483|RCV003316168; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:2520115236695236695NC_000005.9:g.236695C>TClinGen:CA358577C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1413C>G (p.Ile471Met)6389SDHAUncertain significance34779890RCV001039572; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852366952366955:g.236695C>G-
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys)6389SDHAConflicting interpretations of pathogenicity143798161RCV000409873|RCV000569994|RCV000806481; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236696236696NC_000005.9:g.236696G>AClinGen:CA3173216C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter)6389SDHAPathogenic-1RCV002391669|RCV003095123; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236696236696236696-
NM_004168.4(SDHA):c.1417G>C (p.Glu473Gln)6389SDHAUncertain significance2126590644RCV001900975; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236699236699236699-
NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala)6389SDHAUncertain significance1560998495RCV000698751|RCV003352990; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252367002367005:g.236700A>C-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1419G>A (p.Glu473=)6389SDHALikely benign898003329RCV000465651|RCV000575876; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236701236701NC_000005.9:g.236701G>AClinGen:CA16611971C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1420T>C (p.Ser474Pro)6389SDHAUncertain significance2126590674RCV001978486; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236702236702236702-
NM_004168.4(SDHA):c.1422A>G (p.Ser474=)6389SDHALikely benign201868424RCV000553507; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236704236704NC_000005.9:g.236704A>GClinGen:CA3173218C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)6389SDHAUncertain significance781747137RCV000234575|RCV000663132|RCV002392698|RCV003475068; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|52367052367055:g.236705T>CClinGen:CA3173219C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser)6389SDHAUncertain significance748567636RCV000649405|RCV003303064|RCV003432690; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190052367062367065:g.236706G>CClinGen:CA3173221C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1424G>A (p.Cys475Tyr)6389SDHAUncertain significance748567636RCV001011482|RCV001235217; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252367062367065:g.236706G>A-
NM_004168.4(SDHA):c.1427G>A (p.Arg476Lys)6389SDHAUncertain significance2126590736RCV001932270; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236709236709236709-
NM_004168.4(SDHA):c.1428G>A (p.Arg476=)6389SDHALikely benign377415114RCV000529616|RCV001011491; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625236710236710NC_000005.9:g.236710G>AClinGen:CA3173222C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser)6389SDHAUncertain significance377415114RCV000541924|RCV002395443|RCV003319375; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190052367102367105:g.236710G>TClinGen:CA3173223C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1428G>C (p.Arg476Ser)6389SDHAUncertain significance377415114RCV001070472|RCV002393339; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252367102367105:g.236710G>C-
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser)6389SDHAUncertain significance770506764RCV000468284|RCV001011494|RCV002481479|RCV003237875; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M5236711236711NC_000005.9:g.236711C>TClinGen:CA3173224C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1430C>A (p.Pro477His)6389SDHAUncertain significance146990772RCV000649419; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252367122367125:g.236712C>AClinGen:CA359014138C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu)6389SDHAUncertain significance146990772RCV000696212|RCV000998346|RCV002388266; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252367122367125:g.236712C>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1432_1432+1del6389SDHAPathogenic/Likely pathogenic878854627RCV000228421|RCV000567345|RCV001253762|RCV002508205|RCV002500781|RCV003475069; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002668,Human Phenotype Ontology:HP52367142367155:g.236714_236715delClinGen:CA10582429C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1432+1G>C6389SDHALikely pathogenic878854628RCV000230417|RCV001329182; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852367152367155:g.236715G>CClinGen:CA10582430C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1432+1G>T6389SDHALikely pathogenic878854628RCV002037154; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236715236715236715-
NM_004168.4(SDHA):c.1432+4A>G6389SDHAUncertain significance1553999798RCV000649399|RCV002388130; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252367182367185:g.236718A>GClinGen:CA658796491C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1432+7G>C6389SDHALikely benign760526397RCV000234401|RCV000662744|RCV001800594; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN5172025236721236721NC_000005.9:g.236721G>CClinGen:CA3173229C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1432+7G>T6389SDHALikely benign760526397RCV001475830; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236721236721236721-
NM_004168.4(SDHA):c.1432+7G>A6389SDHALikely benign760526397RCV002135293; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236721236721236721-
NM_004168.4(SDHA):c.1432+9_1432+11del6389SDHALikely benign2126590852RCV002116679; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236722236724236721-
NM_004168.4(SDHA):c.1432+9T>G6389SDHALikely benign1735803426RCV002082719; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236723236723236723-
NM_004168.4(SDHA):c.1432+10T>C6389SDHALikely benign-1RCV002863823; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236724236724NC_000005.9:g.236724T>C-
NM_004168.4(SDHA):c.1432+12C>T6389SDHALikely benign377104463RCV002165760; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236726236726236726-
NM_004168.4(SDHA):c.1432+15C>T6389SDHALikely benign2126590874RCV002201621; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085236729236729236729-
NM_004168.4(SDHA):c.1432+16A>G6389SDHAConflicting interpretations of pathogenicity753631065RCV000409517|RCV002058840; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852367302367305:g.236730A>GClinGen:CA3173231C3279992 614165 Paragangliomas 5;
NM_004168.4(SDHA):c.1432+18G>C6389SDHALikely benign763298397RCV002170141; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725236732236732236732-
NM_004168.4(SDHA):c.1432+20G>C6389SDHABenign/Likely benign200127852RCV000663191|RCV002060801; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252367342367345:g.236734G>C-C3279992 614165 Paragangliomas 5;
NM_004168.4(SDHA):c.1433-19T>C6389SDHALikely benign2126602340RCV002213576; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085240454240454240454-
NM_004168.4(SDHA):c.1433-18A>G6389SDHALikely benign-1RCV002904201; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240455240455NC_000005.9:g.240455A>G-
NM_004168.4(SDHA):c.1433-8dup6389SDHABenign769594966RCV002136909; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085240457240458240457-
NM_004168.4(SDHA):c.1433-16C>G6389SDHALikely benign-1RCV002894775; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240457240457NC_000005.9:g.240457C>G-
NM_004168.4(SDHA):c.1433-8del6389SDHABenign-1RCV003082251; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240458240458NC_000005.9:g.240465del-
NM_004168.4(SDHA):c.1433-15T>A6389SDHALikely benign-1RCV003054675; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240458240458NC_000005.9:g.240458T>A-
NM_004168.4(SDHA):c.1433-14T>C6389SDHALikely benign2126602367RCV002185104; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240459240459240459-
NM_004168.4(SDHA):c.1433-14T>G6389SDHALikely benign2126602367RCV002175598; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085240459240459240459-
NM_004168.4(SDHA):c.1433-14T>A6389SDHALikely benign2126602367RCV002145985; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240459240459240459-
NM_004168.4(SDHA):c.1433-11T>G6389SDHALikely benign1194122879RCV002172332; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240462240462240462-
NM_004168.4(SDHA):c.1433-10T>C6389SDHALikely benign1214392431RCV000945795; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852404632404635:g.240463T>C-
NM_004168.4(SDHA):c.1433-9T>C6389SDHALikely benign1579417426RCV001419853; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252404642404645:g.240464T>C-
NM_004168.4(SDHA):c.1433-8T>G6389SDHALikely benign2126602401RCV002207740; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240465240465240465-
NM_004168.4(SDHA):c.1433-7G>A6389SDHALikely benign-1RCV003080398; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240466240466NC_000005.9:g.240466G>A-
NM_004168.4(SDHA):c.1433-3del6389SDHABenign2126602411RCV001518617; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240467240467240466-
NM_004168.4(SDHA):c.1433-5T>A6389SDHALikely benign2126602416RCV002004228; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240468240468240468-
NM_004168.4(SDHA):c.1433-4T>G6389SDHALikely benign2126602419RCV001418129; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240469240469240469-
NM_004168.4(SDHA):c.1433-3T>C6389SDHAUncertain significance1736060812RCV001208443; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252404702404705:g.240470T>C-
NM_004168.4(SDHA):c.1433-2A>G6389SDHALikely pathogenic-1RCV002851247; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240471240471NC_000005.9:g.240471A>G-
NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs)6389SDHAPathogenic-1RCV003035160; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240476240477NC_000005.9:g.240477_240478insGT-
NM_004168.4(SDHA):c.1438A>G (p.Lys480Glu)6389SDHAUncertain significance1579417444RCV001011574|RCV001247825; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252404782404785:g.240478A>G-
NM_004168.4(SDHA):c.1442T>G (p.Val481Gly)6389SDHAUncertain significance1736061170RCV001959617; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085240482240482240482-
NM_004168.4(SDHA):c.1443C>A (p.Val481=)6389SDHALikely benign751871185RCV000649466|RCV003303066; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252404832404835:g.240483C>AClinGen:CA442692193C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1443C>T (p.Val481=)6389SDHALikely benign751871185RCV002182582; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240483240483240483-
NM_004168.4(SDHA):c.1445C>T (p.Pro482Leu)6389SDHAUncertain significance759661610RCV001011619|RCV001860674; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252404852404855:g.240485C>T-
NM_004168.4(SDHA):c.1445C>A (p.Pro482His)6389SDHAUncertain significance759661610RCV001220887; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252404852404855:g.240485C>A-
NM_004168.4(SDHA):c.1445C>G (p.Pro482Arg)6389SDHAUncertain significance759661610RCV002010926; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240485240485240485-
NM_004168.4(SDHA):c.1446T>G (p.Pro482=)6389SDHALikely benign767646499RCV001493756|RCV002388523; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240486240486240486-
NM_004168.4(SDHA):c.1448C>T (p.Pro483Leu)6389SDHAUncertain significance2126602519RCV001890957; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240488240488240488-
NM_004168.4(SDHA):c.1450A>G (p.Ile484Val)6389SDHAUncertain significance1224049828RCV000554522|RCV002395444; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240490240490NC_000005.9:g.240490A>GClinGen:CA359014191C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1452T>C (p.Ile484=)6389SDHALikely benign-1RCV002394648|RCV003095185; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240492240492-
NM_004168.4(SDHA):c.1453A>G (p.Lys485Glu)6389SDHAUncertain significance1736062209RCV001347124|RCV002395765; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240493240493240493-
NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln)6389SDHAUncertain significance-1RCV002647631; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240493240493NC_000005.9:g.240493A>C-
NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr)6389SDHAConflicting interpretations of pathogenicity1060503706RCV000462164|RCV002256273; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240496240496NC_000005.9:g.240496C>AClinGen:CA16611887C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser)6389SDHAUncertain significance1060503706RCV000530424; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852404962404965:g.240496C>TClinGen:CA359014205C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1457C>T (p.Pro486Leu)6389SDHAUncertain significance1579417528RCV001011674|RCV001860678; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252404972404975:g.240497C>T-
NM_004168.4(SDHA):c.1458A>G (p.Pro486=)6389SDHALikely benign2126602561RCV001498115; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240498240498240498-
NM_004168.4(SDHA):c.1459A>C (p.Asn487His)6389SDHAUncertain significance1208182306RCV001983493|RCV002388998; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240499240499240499-
NM_004168.4(SDHA):c.1461C>T (p.Asn487=)6389SDHALikely benign187540602RCV000462565|RCV000568309|RCV003431042; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005240501240501NC_000005.9:g.240501C>TClinGen:CA3173258C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys)6389SDHAUncertain significance-1RCV002624452; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240501240501NC_000005.9:g.240501C>A-
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)6389SDHAUncertain significance369100772RCV000468600|RCV000562914|RCV000714731|RCV000714730|RCV002481484|RCV003476133; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|M5240502240502NC_000005.9:g.240502G>AClinGen:CA3173259C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1462G>T (p.Ala488Ser)6389SDHAUncertain significance369100772RCV001205294|RCV002393462; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252405022405025:g.240502G>T-
NM_004168.4(SDHA):c.1463C>T (p.Ala488Val)6389SDHAUncertain significance1421325038RCV001059668; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252405032405035:g.240503C>T-
NM_004168.4(SDHA):c.1465G>A (p.Gly489Arg)6389SDHAUncertain significance2126602614RCV001899234; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085240505240505240505-
NM_004168.4(SDHA):c.1466_1468del (p.Gly489del)6389SDHAUncertain significance-1RCV003046834; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240505240507NC_000005.9:g.240506_240508del-
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)6389SDHAPathogenic/Likely pathogenic1554000360RCV000538564|RCV001523818|RCV002256388|RCV003317276|RCV003476302; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|52405082405085:g.240508G>TClinGen:CA359014231C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1470_1473dup (p.Ser492fs)6389SDHAPathogenic2126602655RCV001969975; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240508240509240508-
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)6389SDHAConflicting interpretations of pathogenicity778207102RCV000555437|RCV000566587|RCV000779471|RCV001093472|RCV003409811|RCV003476303; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162||MedGen:C3661900||MONDO:MONDO:0013339,MedGen:C3150898,OMIM:61365240511240511NC_000005.9:g.240511G>TClinGen:CA3173260C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1471G>A (p.Glu491Lys)6389SDHAUncertain significance778207102RCV001224646; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252405112405115:g.240511G>A-
NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala)6389SDHAUncertain significance754324916RCV000649404|RCV002388131; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252405122405125:g.240512A>CClinGen:CA3173261C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly)6389SDHAUncertain significance754324916RCV000793864|RCV001011765; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252405122405125:g.240512A>G-
NM_004168.4(SDHA):c.1476T>C (p.Ser492=)6389SDHALikely benign1376968004RCV000543040|RCV002395445; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252405162405165:g.240516T>CClinGen:CA442692215C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1477G>T (p.Val493Phe)6389SDHAUncertain significance1579417619RCV000801188; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252405172405175:g.240517G>T-
NM_004168.4(SDHA):c.1479C>T (p.Val493=)6389SDHALikely benign2126602710RCV002155982|RCV002391333; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240519240519240519-
NM_004168.4(SDHA):c.1480A>G (p.Met494Val)6389SDHAUncertain significance1579417628RCV000797162; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252405202405205:g.240520A>G-
NM_004168.4(SDHA):c.1481T>C (p.Met494Thr)6389SDHAUncertain significance1561001630RCV000686308|RCV003338732; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240521240521NC_000005.9:g.240521T>C-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp)6389SDHAUncertain significance757663708RCV001945858|RCV002491952; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MOND5240523240523240523-
NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile)6389SDHAUncertain significance-1RCV003022957; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240524240524NC_000005.9:g.240524A>T-
NM_004168.4(SDHA):c.1486C>A (p.Leu496Ile)6389SDHAUncertain significance1305001616RCV001350259; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240526240526240526-
NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu)6389SDHAUncertain significance1579417658RCV000796925|RCV002388445; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252405312405315:g.240531C>G-
NM_004168.4(SDHA):c.1492A>C (p.Lys498Gln)6389SDHAUncertain significance-1RCV002389721|RCV003095233; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240532240532240532-
NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg)6389SDHAUncertain significance745592653RCV000649413; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252405332405335:g.240533A>GClinGen:CA3173264C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs)6389SDHAPathogenic-1RCV002389756|RCV003095236; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240533240555240532-
NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr)6389SDHAUncertain significance-1RCV003051544; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240533240533NC_000005.9:g.240533A>C-
NM_004168.4(SDHA):c.1498A>C (p.Arg500=)6389SDHALikely benign2126602800RCV001462997|RCV003160878; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240538240538240538-
NM_004168.4(SDHA):c.1500A>G (p.Arg500=)6389SDHALikely benign-1RCV002389921|RCV003095249; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240540240540-
NM_004168.4(SDHA):c.1502T>G (p.Phe501Cys)6389SDHAUncertain significance757932443RCV000703345|RCV002388325; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252405422405425:g.240542T>G-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1506T>C (p.Ala502=)6389SDHALikely benign1364448678RCV001505748|RCV002388562; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240546240546240546-
NM_004168.4(SDHA):c.1507G>A (p.Asp503Asn)6389SDHAUncertain significance2126602837RCV002012421|RCV003382786; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240547240547240547-
NM_004168.4(SDHA):c.1508A>C (p.Asp503Ala)6389SDHAUncertain significance1736066055RCV001347501|RCV002395768; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240548240548240548-
NM_004168.4(SDHA):c.1509T>C (p.Asp503=)6389SDHALikely benign2126602858RCV002134949; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085240549240549240549-
NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg)6389SDHAUncertain significance1579417710RCV000797915|RCV003338804; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252405502405505:g.240550G>A-
NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn)6389SDHAUncertain significance1060503722RCV000465966|RCV002393171; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240554240554NC_000005.9:g.240554G>AClinGen:CA16611974C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1516A>G (p.Ile506Val)6389SDHAUncertain significance1561001683RCV000821609; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252405562405565:g.240556A>G-
NM_004168.4(SDHA):c.1517T>C (p.Ile506Thr)6389SDHAUncertain significance2126602878RCV001897289; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085240557240557240557-
NM_004168.4(SDHA):c.1518A>G (p.Ile506Met)6389SDHAUncertain significance955444699RCV000691931|RCV002388235; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240558240558NC_000005.9:g.240558A>G-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1520G>A (p.Arg507Lys)6389SDHAUncertain significance-1RCV002300012; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240560240560240560-
NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser)6389SDHAUncertain significance1060503718RCV000475110|RCV002393170; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240562240562NC_000005.9:g.240562A>TClinGen:CA16611842C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala)6389SDHAUncertain significance1060503718RCV000649454; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252405622405625:g.240562A>GClinGen:CA359014353C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)6389SDHAConflicting interpretations of pathogenicity151266052RCV000032785|RCV000232220|RCV000563852|RCV001719715|RCV001818204; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|M52405632405635:g.240563C>TClinGen:CA130381,OMIM:600857.0006C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1524A>G (p.Thr508=)6389SDHALikely benign1356814435RCV000544975|RCV002395446; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252405642405645:g.240564A>GClinGen:CA442692244C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro)6389SDHAUncertain significance1579417769RCV000815995; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252405652405655:g.240565T>C-
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu)6389SDHAUncertain significance397514541RCV000032786|RCV000695865; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852405662405665:g.240566C>TClinGen:CA130383,OMIM:600857.0007C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)6389SDHAPathogenic/Likely pathogenic1064793567RCV000483714|RCV000575106|RCV000800769|RCV003401517|RCV003476157; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072||MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613645240566240567NC_000005.9:g.240566_240567delinsGAClinGen:CA16618198
NM_004168.4(SDHA):c.1526C>G (p.Ser509Trp)6389SDHAConflicting interpretations of pathogenicity397514541RCV000998347|RCV001053500|RCV002391064; NMedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252405662405665:g.240566C>G-
NM_004168.4(SDHA):c.1527G>A (p.Ser509=)6389SDHAConflicting interpretations of pathogenicity746453879RCV000473824|RCV000573305|RCV001152360|RCV001152358|RCV001152359; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:5240567240567NC_000005.9:g.240567G>AClinGen:CA3173266C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1531C>G (p.Leu511Val)6389SDHAUncertain significance768257880RCV001204913|RCV002402589; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252405712405715:g.240571C>G-
NM_004168.4(SDHA):c.1531C>T (p.Leu511=)6389SDHALikely benign768257880RCV002109158|RCV003161582; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240571240571240571-
NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro)6389SDHAUncertain significance375194444RCV000225792|RCV000484270|RCV000571145|RCV003417817|RCV003475070; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162||MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613645240572240572NC_000005.9:g.240572T>CClinGen:CA3173268C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1533G>A (p.Leu511=)6389SDHALikely benign876658698RCV000218407|RCV001411405; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252405732405735:g.240573G>AClinGen:CA10578631C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)6389SDHAPathogenic/Likely pathogenic748089700RCV000411416|RCV000578965|RCV000684799|RCV000566844|RCV002285327|RCV002502437|RCV003475994; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,52405742405745:g.240574C>TClinGen:CA3173269C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)6389SDHAUncertain significance192818312RCV000228640|RCV000502879|RCV002399826|RCV002487068|RCV003475071; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:25201152405752405755:g.240575G>AClinGen:CA3173270C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr)6389SDHAUncertain significance587781729RCV000129921|RCV000791490; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240581240581NC_000005.9:g.240581G>CClinGen:CA165356C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1541G>A (p.Ser514Asn)6389SDHAUncertain significance587781729RCV001241335; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252405812405815:g.240581G>A-
NM_004168.4(SDHA):c.1542C>G (p.Ser514Arg)6389SDHAUncertain significance1301221379RCV001340709|RCV002402942; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240582240582240582-
NM_004168.4(SDHA):c.1543A>G (p.Met515Val)6389SDHAUncertain significance1736069297RCV001299585|RCV002402832; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240583240583240583-
NM_004168.4(SDHA):c.1545G>T (p.Met515Ile)6389SDHAUncertain significance1736069479RCV001323905; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240585240585240585-
NM_004168.4(SDHA):c.1545G>A (p.Met515Ile)6389SDHAUncertain significance-1RCV002797179|RCV003167805; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240585240585NC_000005.9:g.240585G>A-
NM_004168.4(SDHA):c.1547dup (p.Lys517fs)6389SDHAPathogenic1554000378RCV000649407; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252405862405875:g.240586_240587insAClinGen:CA658796492C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu)6389SDHAUncertain significance1251348764RCV000691589; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252405862405865:g.240586C>G-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1549_1551dup (p.Lys517dup)6389SDHAUncertain significance1736070159RCV001225383|RCV003294077; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252405862405875:g.240586_240587insAGA-
NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg)6389SDHAUncertain significance981171929RCV000793250|RCV002256503|RCV003148864; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190052405872405875:g.240587A>G-
NM_004168.4(SDHA):c.1548G>A (p.Gln516=)6389SDHALikely benign2126603098RCV002149706; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085240588240588240588-
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu)6389SDHAConflicting interpretations of pathogenicity786205210RCV000231483|RCV002259327; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085240589240589NC_000005.9:g.240589A>GClinGen:CA358607,ClinVar:190221C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1551G>A (p.Lys517=)6389SDHAUncertain significance772822136RCV001999666|RCV002398097; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625240591240591240591-
NM_004168.4(SDHA):c.1551+1G>A6389SDHAConflicting interpretations of pathogenicity759806010RCV001041775|RCV003160278; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252405922405925:g.240592G>A-
NM_004168.4(SDHA):c.1551+3A>G6389SDHAConflicting interpretations of pathogenicity767596385RCV001202435|RCV002402577; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252405942405945:g.240594A>G-
NM_004168.4(SDHA):c.1551+4A>G6389SDHAConflicting interpretations of pathogenicity928294715RCV000649432|RCV001012124|RCV000606754; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN16937452405952405955:g.240595A>GClinGen:CA112829820C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1551+4A>T6389SDHAUncertain significance928294715RCV001303372; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240595240595240595-
NM_004168.4(SDHA):c.1551+5G>C6389SDHAUncertain significance2126603143RCV001912401; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085240596240596240596-
NM_004168.4(SDHA):c.1551+6A>G6389SDHAUncertain significance369507726RCV000557246; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852405972405975:g.240597A>GClinGen:CA3173274C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1551+7G>C6389SDHALikely benign760796714RCV001397090; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252405982405985:g.240598G>CClinGen:CA3173275C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1551+7G>A6389SDHALikely benign760796714RCV000933687; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852405982405985:g.240598G>A-
NM_004168.4(SDHA):c.1551+9C>T6389SDHALikely benign2126603158RCV002136967; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085240600240600240600-
NM_004168.4(SDHA):c.1551+11G>C6389SDHALikely benign-1RCV003066243; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240602240602NC_000005.9:g.240602G>C-
NM_004168.4(SDHA):c.1551+12G>A6389SDHALikely benign-1RCV003051210; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240603240603NC_000005.9:g.240603G>A-
NM_004168.4(SDHA):c.1551+16C>T6389SDHABenign/Likely benign184954254RCV000435576|RCV001511158|RCV001528986|RCV002502505; NMedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,52406072406075:g.240607C>TClinGen:CA3173278CN169374 not specified;
NM_004168.4(SDHA):c.1551+17G>A6389SDHALikely benign376232883RCV002086990; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240608240608240608-
NM_004168.4(SDHA):c.1551+18C>T6389SDHALikely benign2126603212RCV002080673; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240609240609240609-
NM_004168.4(SDHA):c.1551+18C>A6389SDHALikely benign-1RCV003007590; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725240609240609NC_000005.9:g.240609C>A-
NM_004168.4(SDHA):c.1552-173_1585dup6389SDHAUncertain significance1736773597RCV001325808; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725250933250934250933-
NM_004168.4(SDHA):c.1552-20A>C6389SDHALikely benign1378314484RCV002117217; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251087251087251087-
NM_004168.4(SDHA):c.1552-20A>G6389SDHALikely benign1378314484RCV002172712; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251087251087251087-
NM_004168.4(SDHA):c.1552-18T>G6389SDHALikely benign2126631828RCV002093037; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251089251089251089-
NM_004168.4(SDHA):c.1552-16A>G6389SDHALikely benign1418838846RCV001921073; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251091251091251091-
NM_004168.4(SDHA):c.1552-15T>C6389SDHALikely benign543628983RCV000601012|RCV002066523; NMedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852510922510925:g.251092T>CClinGen:CA3173294CN169374 not specified;
NM_004168.4(SDHA):c.1552-14A>G6389SDHALikely benign762315793RCV002098693; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251093251093251093-
NM_004168.4(SDHA):c.1552-13T>C6389SDHALikely benign1280763236RCV002081115; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251094251094251094-
NM_004168.4(SDHA):c.1552-12T>C6389SDHALikely benign2126631871RCV002147170; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251095251095251095-
NM_004168.4(SDHA):c.1552-10T>G6389SDHAUncertain significance1736784473RCV001064929; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252510972510975:g.251097T>G-
NM_004168.4(SDHA):c.1552-9G>A6389SDHALikely benign765624219RCV001452964; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251098251098251098-
NM_004168.4(SDHA):c.1552-7G>A6389SDHALikely benign1351792129RCV001488057; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252511002511005:g.251100G>A-
NM_004168.4(SDHA):c.1552-7G>T6389SDHALikely benign1351792129RCV000983788; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852511002511005:g.251100G>T-
NM_004168.4(SDHA):c.1552-7G>C6389SDHALikely benign1351792129RCV001436516; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251100251100251100-
NM_004168.4(SDHA):c.1552-6C>T6389SDHALikely benign2126631902RCV001506571; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251101251101251101-
NM_004168.4(SDHA):c.1552-3_1552-2del6389SDHAUncertain significance2126631914RCV002005047; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251102251103251101-
NM_004168.4(SDHA):c.1552-3C>T6389SDHAUncertain significance1222778933RCV000649455|RCV001012127; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252511042511045:g.251104C>TClinGen:CA557102395C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1552T>C (p.Ser518Pro)6389SDHAUncertain significance2126631929RCV001371441; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251107251107251107-
NM_004168.4(SDHA):c.1552T>A (p.Ser518Thr)6389SDHAUncertain significance-1RCV002667585; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251107251107NC_000005.9:g.251107T>A-
NM_004168.4(SDHA):c.1553C>T (p.Ser518Leu)6389SDHAUncertain significance2126631937RCV001907865; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251108251108251108-
NM_004168.4(SDHA):c.1555A>G (p.Met519Val)6389SDHAUncertain significance2126631942RCV001974203|RCV002398040; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251110251110251110-
NM_004168.4(SDHA):c.1558C>T (p.Gln520Ter)6389SDHAPathogenic2126631964RCV001924318; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251113251113251113-
NM_004168.4(SDHA):c.1560A>G (p.Gln520=)6389SDHALikely benign1261025402RCV001415360; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252511152511155:g.251115A>G-
NM_004168.4(SDHA):c.1564_1566del (p.His522del)6389SDHAUncertain significance1325342549RCV001062225|RCV002402440|RCV003473682; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452511172511195:g.251117_251119del-
NM_004168.4(SDHA):c.1564C>T (p.His522Tyr)6389SDHAUncertain significance-1RCV003034962; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251119251119NC_000005.9:g.251119C>T-
NM_004168.4(SDHA):c.1565A>G (p.His522Arg)6389SDHAUncertain significance-1RCV002405500|RCV003100725; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251120251120251120-
NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser)6389SDHAUncertain significance1554001820RCV000649393; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251122251122NC_000005.9:g.251122G>TClinGen:CA358998442C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1568C>A (p.Ala523Asp)6389SDHAUncertain significance1736785630RCV001234164; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252511232511235:g.251123C>A-
NM_004168.4(SDHA):c.1568C>G (p.Ala523Gly)6389SDHAUncertain significance1736785630RCV001346982|RCV002404817|RCV003154005; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005251123251123251123-
NM_004168.4(SDHA):c.1568C>T (p.Ala523Val)6389SDHAUncertain significance1736785630RCV001920893|RCV002397907; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251123251123251123-
NM_004168.4(SDHA):c.1569T>C (p.Ala523=)6389SDHABenign/Likely benign150192376RCV000445091|RCV000458596|RCV000566664; NMedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252511242511245:g.251124T>CClinGen:CA3173297C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1570G>T (p.Ala524Ser)6389SDHAUncertain significance-1RCV002876913; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251125251125NC_000005.9:g.251125G>T-
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val)6389SDHAPathogenic/Likely pathogenic137852767RCV000009282|RCV000520939|RCV000649458|RCV002399314|RCV003473061; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,O52511262511265:g.251126C>TClinGen:CA119880,UniProtKB:P31040#VAR_016878,OMIM:600857.0002C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1572C>G (p.Ala524=)6389SDHALikely benign185679709RCV000550313|RCV002404525; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251127251127NC_000005.9:g.251127C>GClinGen:CA442657263C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1572C>T (p.Ala524=)6389SDHALikely benign185679709RCV000954797|RCV002400113; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252511272511275:g.251127C>T-
NM_004168.4(SDHA):c.1573G>A (p.Val525Met)6389SDHAUncertain significance979815942RCV000558310|RCV001012216|RCV003238773; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005251128251128NC_000005.9:g.251128G>AClinGen:CA112783487C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1575G>A (p.Val525=)6389SDHALikely benign766757653RCV001400092; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252511302511305:g.251130G>A-
NM_004168.4(SDHA):c.1579del (p.Arg527fs)6389SDHAPathogenic/Likely pathogenic1579437839RCV000809642|RCV002390625|RCV002501099|RCV003316813; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M52511332511335:g.251133_251133del-
NM_004168.4(SDHA):c.1578C>T (p.Phe526=)6389SDHALikely benign2126632042RCV001400009; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251133251133251133-
NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu)6389SDHAUncertain significance2126632042RCV002042300|RCV002397778|RCV003475115; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545251133251133251133-
NM_004168.4(SDHA):c.1579C>T (p.Arg527Cys)6389SDHAUncertain significance138723511RCV000477361|RCV001012271|RCV001764450; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005251134251134NC_000005.9:g.251134C>TClinGen:CA3173300C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1580G>A (p.Arg527His)6389SDHAConflicting interpretations of pathogenicity766352407RCV000287976|RCV000352061|RCV000396802|RCV000461471|RCV001012256|RCV003475935; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:01005251135251135NC_000005.9:g.251135G>AClinGen:CA3173301C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.1581T>C (p.Arg527=)6389SDHALikely benign2126632074RCV002155140|RCV002398249; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251136251136251136-
NM_004168.4(SDHA):c.1584G>C (p.Val528=)6389SDHALikely benign-1RCV002898920; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251139251139-
NM_004168.4(SDHA):c.1584G>T (p.Val528=)6389SDHALikely benign-1RCV002899383; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251139251139-
NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg)6389SDHAUncertain significance370291114RCV000466069|RCV001012294|RCV003476120; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545251140251140NC_000005.9:g.251140G>CClinGen:CA3173302C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1586G>C (p.Gly529Ala)6389SDHAUncertain significance2126632088RCV001864447; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251141251141251141-
NM_004168.4(SDHA):c.1590C>T (p.Ser530=)6389SDHALikely benign1060503701RCV000457655|RCV001012331; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252511452511455:g.251145C>TClinGen:CA16611975C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1591G>A (p.Val531Met)6389SDHAUncertain significance371056571RCV000193391|RCV000226464|RCV000410380|RCV000573905|RCV001093473; NMedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,52511462511465:g.251146G>AClinGen:CA206847C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1591G>T (p.Val531Leu)6389SDHAUncertain significance371056571RCV001220419|RCV002402664|RCV002484197; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190052511462511465:g.251146G>T-
NM_004168.4(SDHA):c.1593G>A (p.Val531=)6389SDHALikely benign2126632110RCV001489340; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251148251148251148-
NM_004168.4(SDHA):c.1596G>A (p.Leu532=)6389SDHALikely benign1449742263RCV000926023|RCV002400029; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252511512511515:g.251151G>A-
NM_004168.4(SDHA):c.1596G>T (p.Leu532Phe)6389SDHAUncertain significance1449742263RCV001208709|RCV002402614; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252511512511515:g.251151G>T-
NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu)6389SDHAUncertain significance149367009RCV000469150|RCV001012355|RCV002298608|RCV003476131; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:6136425251152251152NC_000005.9:g.251152C>GClinGen:CA3173303C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1598A>T (p.Gln533Leu)6389SDHAUncertain significance1395387473RCV001056476; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252511532511535:g.251153A>T-
NM_004168.4(SDHA):c.1598AAG[1] (p.Glu534del)6389SDHAUncertain significance1736788779RCV001241320|RCV003166504; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252511532511555:g.251153_251155del-
NM_004168.4(SDHA):c.1598A>C (p.Gln533Pro)6389SDHAUncertain significance1395387473RCV001342503; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251153251153251153-
NM_004168.4(SDHA):c.1599A>G (p.Gln533=)6389SDHALikely benign1407806818RCV000534189|RCV002404526; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251154251154NC_000005.9:g.251154A>GClinGen:CA442657282C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1600G>A (p.Glu534Lys)6389SDHAUncertain significance-1RCV002991673; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251155251155NC_000005.9:g.251155G>A-
NM_004168.4(SDHA):c.1602A>G (p.Glu534=)6389SDHALikely benign2126632157RCV001487705; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251157251157251157-
NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys)6389SDHAUncertain significance777622021RCV000551366|RCV002404527; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251158251158NC_000005.9:g.251158G>TClinGen:CA3173304C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala)6389SDHAUncertain significance1736789524RCV001232735|RCV003473800; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452511592511595:g.251159G>C-
NM_004168.4(SDHA):c.1605T>C (p.Gly535=)6389SDHALikely benign1219265731RCV001422966; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251160251160251160-
NM_004168.4(SDHA):c.1607G>A (p.Cys536Tyr)6389SDHAUncertain significance1736789855RCV001242993; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252511622511625:g.251162G>A-
NM_004168.4(SDHA):c.1607G>T (p.Cys536Phe)6389SDHAUncertain significance-1RCV002301629; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251162251162251162-
NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter)6389SDHAPathogenic-1RCV003015540; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251163251163NC_000005.9:g.251163T>A-
NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg)6389SDHAUncertain significance1736789994RCV001345903|RCV002395760|RCV003473872; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545251164251164251164-
NM_004168.4(SDHA):c.1615dup (p.Ile539fs)6389SDHAPathogenic/Likely pathogenic1554001843RCV000457642|RCV003456080|RCV003476128; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545251166251167NC_000005.9:g.251170dupClinGen:CA16611891C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1611G>A (p.Gly537=)6389SDHALikely benign1060505009RCV000457724|RCV002402372; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251166251166NC_000005.9:g.251166G>AClinGen:CA16611976C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1614A>G (p.Lys538=)6389SDHALikely benign1554001847RCV000526113|RCV002395447; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252511692511695:g.251169A>GClinGen:CA442657292C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1615A>G (p.Ile539Val)6389SDHAUncertain significance-1RCV003040695; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251170251170NC_000005.9:g.251170A>G-
NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser)6389SDHAUncertain significance749219128RCV000538676|RCV002395448; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252511712511715:g.251171T>GClinGen:CA3173305C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1617C>T (p.Ile539=)6389SDHALikely benign2126632215RCV002208831|RCV003303731; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251172251172251172-
NM_004168.4(SDHA):c.1620C>T (p.Ser540=)6389SDHALikely benign-1RCV002886269; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251175251175-
NM_004168.4(SDHA):c.1621A>G (p.Lys541Glu)6389SDHAUncertain significance1736791200RCV001218244; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252511762511765:g.251176A>G-
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)6389SDHAConflicting interpretations of pathogenicity35502109RCV000239362|RCV000242066|RCV000569690|RCV001081440|RCV001153642|RCV001153643|RCV001153641|RCV003316319; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0025251178251178NC_000005.9:g.251178G>AClinGen:CA3173306C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro)6389SDHAUncertain significance1233761838RCV001336640|RCV001865854|RCV002402923; NMONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251180251180251180-
NM_004168.4(SDHA):c.1626C>T (p.Leu542=)6389SDHALikely benign1269358534RCV001428428|RCV002405000; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251181251181251181-
NM_004168.4(SDHA):c.1626C>G (p.Leu542=)6389SDHALikely benign-1RCV003052454; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251181251181-
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His)6389SDHAUncertain significance1339009840RCV000551034|RCV001012481|RCV002491085; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; 5251182251182NC_000005.9:g.251182T>CClinGen:CA358998693C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1628A>G (p.Tyr543Cys)6389SDHAUncertain significance778670859RCV001981564|RCV002397988; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251183251183251183-
NM_004168.4(SDHA):c.1629T>C (p.Tyr543=)6389SDHALikely benign747249998RCV000459700|RCV000569829; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251184251184NC_000005.9:g.251184T>CClinGen:CA3173308C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter)6389SDHAPathogenic747249998RCV000649408|RCV001535631; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:2907252511842511845:g.251184T>GClinGen:CA358998711C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1630G>A (p.Gly544Arg)6389SDHAUncertain significance1338347881RCV001204999; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252511852511855:g.251185G>A-
NM_004168.4(SDHA):c.1631G>A (p.Gly544Glu)6389SDHAUncertain significance2126632293RCV001945900|RCV002397928; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251186251186251186-
NM_004168.4(SDHA):c.1633G>A (p.Asp545Asn)6389SDHAUncertain significance1736792773RCV001308861; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251188251188251188-
NM_004168.4(SDHA):c.1633G>T (p.Asp545Tyr)6389SDHAUncertain significance1736792773RCV001984856; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251188251188251188-
NM_004168.4(SDHA):c.1638A>C (p.Leu546=)6389SDHALikely benign1041963RCV001484156|RCV002399932; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252511932511935:g.251193A>C-
NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln)6389SDHAUncertain significance-1RCV003085506; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251194251194NC_000005.9:g.251194A>C-
NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg)6389SDHAUncertain significance1561010407RCV000693477|RCV003338734|RCV003472210; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545251195251195NC_000005.9:g.251195A>G-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1641G>C (p.Lys547Asn)6389SDHAUncertain significance1267429398RCV001988310; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251196251196251196-
NM_004168.4(SDHA):c.1643A>G (p.His548Arg)6389SDHAUncertain significance-1RCV002603351; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251198251198NC_000005.9:g.251198A>G-
NM_004168.4(SDHA):c.1644C>T (p.His548=)6389SDHALikely benign1126427RCV000463554|RCV002395139; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251199251199NC_000005.9:g.251199C>TClinGen:CA3173309C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro)6389SDHAUncertain significance1579438155RCV000821834; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252512012512015:g.251201T>C-
NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln)6389SDHAUncertain significance1400219619RCV000697520; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251203251203NC_000005.9:g.251203A>C-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1650G>A (p.Lys550=)6389SDHALikely benign1359705251RCV001422453|RCV003284315; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251205251205251205-
NM_004168.4(SDHA):c.1651A>G (p.Thr551Ala)6389SDHAUncertain significance1200051286RCV001060536; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252512062512065:g.251206A>G-
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)6389SDHAUncertain significance181238392RCV000458208|RCV000569746|RCV000662939|RCV002475896; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|5251207251207NC_000005.9:g.251207C>TClinGen:CA3173310C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1653G>A (p.Thr551=)6389SDHALikely benign761927291RCV000229586|RCV000565314; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252512082512085:g.251208G>AClinGen:CA3173311C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1654T>G (p.Phe552Val)6389SDHAUncertain significance1736795269RCV001242634|RCV002402770; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252512092512095:g.251209T>G-
NM_004168.4(SDHA):c.1656C>T (p.Phe552=)6389SDHALikely benign1170030451RCV000573955|RCV000864334; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251211251211NC_000005.9:g.251211C>TClinGen:CA442657314C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1656del (p.Phe552fs)6389SDHAPathogenic1736795573RCV001041854; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852512112512115:g.251211_251211del-
NM_004168.4(SDHA):c.1658_1661del (p.Asp553fs)6389SDHAPathogenic2126632404RCV001956414; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251211251214251210-
NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn)6389SDHAUncertain significance769882609RCV000233573|RCV001012585|RCV001762530|RCV003475072; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:6136425251212251212NC_000005.9:g.251212G>AClinGen:CA3173312C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala)6389SDHAUncertain significance1060503723RCV000472549; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251213251213NC_000005.9:g.251213A>CClinGen:CA16611893C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1659C>T (p.Asp553=)6389SDHALikely benign-1RCV002819191; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251214251214-
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)6389SDHAConflicting interpretations of pathogenicity9809219RCV000009281|RCV000456631|RCV000573113|RCV000790927|RCV001818148|RCV003315222|RCV003473060; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|M5251215251215NC_000005.9:g.251215C>TClinGen:CA119879,UniProtKB:P31040#VAR_002449,OMIM:600857.0001C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1660C>A (p.Arg554=)6389SDHALikely benign9809219RCV002217905|RCV002398197; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251215251215251215-
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)6389SDHAConflicting interpretations of pathogenicity376391115RCV000226282|RCV000565244|RCV000663186|RCV001153644|RCV001153645|RCV001153646|RCV002253311|RCV002267990; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|5251216251216NC_000005.9:g.251216G>AClinGen:CA3173313C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1661G>T (p.Arg554Leu)6389SDHAUncertain significance376391115RCV001203540; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252512162512165:g.251216G>T-
NM_004168.4(SDHA):c.1662G>T (p.Arg554=)6389SDHAUncertain significance1579438241RCV000821769; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252512172512175:g.251217G>T-
NM_004168.4(SDHA):c.1662G>C (p.Arg554=)6389SDHAUncertain significance1579438241RCV001236409; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252512172512175:g.251217G>C-
NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg)6389SDHAUncertain significance1392860800RCV000703879|RCV002397470; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252512182512185:g.251218G>C-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1663G>A (p.Gly555Arg)6389SDHAUncertain significance1392860800RCV001968186; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251218251218251218-
NM_004168.4(SDHA):c.1663+1G>T6389SDHAPathogenic/Likely pathogenic766667009RCV000218973|RCV000466792|RCV002500730|RCV003229821|RCV003475016; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M52512192512195:g.251219G>TClinGen:CA3173314C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1663+1G>A6389SDHAPathogenic/Likely pathogenic766667009RCV001229903|RCV002402720|RCV002480754|RCV003336351; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M52512192512195:g.251219G>A-
NM_004168.4(SDHA):c.1663+1G>C6389SDHAPathogenic-1RCV002885195; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251219251219NC_000005.9:g.251219G>C-
NM_004168.4(SDHA):c.1663+3G>C6389SDHAConflicting interpretations of pathogenicity751904543RCV000700223|RCV001799703|RCV002397443; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:001552512212512215:g.251221G>C-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1663+5G>C6389SDHAConflicting interpretations of pathogenicity1736797211RCV001046874|RCV003473632; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452512232512235:g.251223G>C-
NM_004168.4(SDHA):c.1663+6C>G6389SDHAUncertain significance1736797323RCV001225632; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252512242512245:g.251224C>G-
NM_004168.4(SDHA):c.1663+7A>G6389SDHAConflicting interpretations of pathogenicity1579438260RCV000978101|RCV003438642; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C366190052512252512255:g.251225A>G-
NM_004168.4(SDHA):c.1663+10C>G6389SDHALikely benign-1RCV003053612; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251228251228NC_000005.9:g.251228C>G-
NM_004168.4(SDHA):c.1663+11A>C6389SDHALikely benign1037190778RCV002162145; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251229251229251229-
NM_004168.4(SDHA):c.1663+17C>T6389SDHALikely benign759291109RCV002165500; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251235251235251235-
NM_004168.4(SDHA):c.1663+19C>T6389SDHALikely benign1214851392RCV002092873; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251237251237251237-
NM_004168.4(SDHA):c.1663+20T>C6389SDHALikely benign1226482893RCV002145150; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251238251238251238-
NM_004168.4(SDHA):c.1664-20G>A6389SDHAUncertain significance1310666225RCV001970882; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251433251433251433-
NM_004168.4(SDHA):c.1664-19G>A6389SDHALikely benign2126633052RCV002114007; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251434251434251434-
NM_004168.4(SDHA):c.1664-16C>G6389SDHALikely benign763374204RCV002198230; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251437251437251437-
NM_004168.4(SDHA):c.1664-11del6389SDHABenign1561010692RCV002127371; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251438251438251437-
NM_004168.4(SDHA):c.1664-13T>C6389SDHALikely benign1057524514RCV000423740|RCV002525496; NMedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252514402514405:g.251440T>CClinGen:CA16604891CN169374 not specified;
NM_004168.4(SDHA):c.1664-9dup6389SDHALikely benign2126633086RCV001470440; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251443251444251443-
NM_004168.4(SDHA):c.1664-10G>T6389SDHALikely benign1736810726RCV002165832; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251443251443251443-
NM_004168.4(SDHA):c.1664-8G>A6389SDHABenign/Likely benign199790689RCV000118313|RCV000205034|RCV000312438|RCV000367152|RCV000396767|RCV002477296|RCV003315677; NMedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|52514452514455:g.251445G>AClinGen:CA345541C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.1664-5C>G6389SDHALikely benign1211852182RCV001905768; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251448251448251448-
NM_004168.4(SDHA):c.1664-4C>G6389SDHAConflicting interpretations of pathogenicity774876028RCV000527162|RCV001012643; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252514492514495:g.251449C>GClinGen:CA658657412C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1664-4C>A6389SDHAConflicting interpretations of pathogenicity774876028RCV000871165|RCV002399933; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252514492514495:g.251449C>A-
NM_004168.4(SDHA):c.1664-4C>T6389SDHALikely benign-1RCV002403872|RCV003097082; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251449251449251449-
NM_004168.4(SDHA):c.1664-2A>G6389SDHALikely pathogenic2126633124RCV001379935|RCV002404895; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251451251451251451-
NM_004168.4(SDHA):c.1664-1G>A6389SDHALikely pathogenic-1RCV002796547; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251452251452NC_000005.9:g.251452G>A-
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu)6389SDHAPathogenic137852768RCV000009286|RCV000009284|RCV001221088; NMONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252514532514535:g.251453G>AClinGen:CA119883,UniProtKB:P31040#VAR_016879,OMIM:600857.0004C3150898 613642 Dilated cardiomyopathy 1GG;
NM_004168.4(SDHA):c.1666A>G (p.Met556Val)6389SDHAUncertain significance980397872RCV000539477|RCV002395449; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252514552514555:g.251455A>GClinGen:CA112783554C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr)6389SDHAUncertain significance1579438769RCV001012629|RCV001319900|RCV003396598; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN16937452514562514565:g.251456T>C-
NM_004168.4(SDHA):c.1667T>A (p.Met556Lys)6389SDHAUncertain significance1579438769RCV001301625; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251456251456251456-
NM_004168.4(SDHA):c.1668G>A (p.Met556Ile)6389SDHAUncertain significance2126633148RCV001979645; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251457251457251457-
NM_004168.4(SDHA):c.1671C>A (p.Val557=)6389SDHALikely benign767963713RCV001472004; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251460251460251460-
NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys)6389SDHAUncertain significance1561010726RCV000705255|RCV002397477; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252514632514635:g.251463G>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1677C>T (p.Asn559=)6389SDHALikely benign2126633167RCV002200848; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251466251466251466-
NM_004168.4(SDHA):c.1678A>G (p.Thr560Ala)6389SDHAUncertain significance1269114291RCV001207335|RCV002402603; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252514672514675:g.251467A>G-
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met)6389SDHAUncertain significance775350508RCV000649400|RCV001012616|RCV003313127|RCV003472040; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:6136425251468251468NC_000005.9:g.251468C>TClinGen:CA3173334C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1680G>A (p.Thr560=)6389SDHABenign/Likely benign1139449RCV000118314|RCV000162436|RCV000298674|RCV000353507|RCV000398522|RCV001513597|RCV001705857|RCV003315678; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32052514692514695:g.251469G>AClinGen:CA155146C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1680G>T (p.Thr560=)6389SDHALikely benign1139449RCV002156655; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251469251469251469-
NM_004168.4(SDHA):c.1684C>A (p.Leu562Met)6389SDHAUncertain significance1561010740RCV000794345|RCV002397577; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252514732514735:g.251473C>A-
NM_004168.4(SDHA):c.1684C>T (p.Leu562=)6389SDHALikely benign1561010740RCV001501575; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251473251473251473-
NM_004168.4(SDHA):c.1684C>G (p.Leu562Val)6389SDHAUncertain significance1561010740RCV001997685|RCV002407197; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251473251473251473-
NM_004168.4(SDHA):c.1685T>C (p.Leu562Pro)6389SDHAUncertain significance1736814018RCV001224144; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252514742514745:g.251474T>C-
NM_004168.4(SDHA):c.1686G>C (p.Leu562=)6389SDHALikely benign1579438828RCV001417522|RCV002400036; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252514752514755:g.251475G>C-
NM_004168.4(SDHA):c.1686G>T (p.Leu562=)6389SDHALikely benign1579438828RCV001475399; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251475251475251475-
NM_004168.4(SDHA):c.1687G>A (p.Val563Met)6389SDHAUncertain significance1736814459RCV001059823|RCV002409477; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252514762514765:g.251476G>A-
NM_004168.4(SDHA):c.1687G>T (p.Val563Leu)6389SDHAUncertain significance1736814459RCV001051934|RCV003307861; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252514762514765:g.251476G>T-
NM_004168.4(SDHA):c.1689G>A (p.Val563=)6389SDHALikely benign2126633222RCV002077620|RCV002407328; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251478251478251478-
NM_004168.4(SDHA):c.1691A>G (p.Glu564Gly)6389SDHAUncertain significance763529675RCV001921775|RCV003303421; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251480251480251480-
NM_004168.4(SDHA):c.1692G>A (p.Glu564=)6389SDHALikely benign368388954RCV000952374|RCV002400109; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252514812514815:g.251481G>A-
NM_004168.4(SDHA):c.1692G>C (p.Glu564Asp)6389SDHAUncertain significance368388954RCV001045602; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852514812514815:g.251481G>C-
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn)6389SDHAUncertain significance757176672RCV000822013|RCV002397721|RCV002495177; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; 52514832514835:g.251483C>A-
NM_004168.4(SDHA):c.1694C>T (p.Thr565Ile)6389SDHAUncertain significance757176672RCV001318903|RCV003339595; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251483251483251483-
NM_004168.4(SDHA):c.1695C>G (p.Thr565=)6389SDHALikely benign765113103RCV001444944|RCV002414062; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251484251484251484-
NM_004168.4(SDHA):c.1696C>G (p.Leu566Val)6389SDHAUncertain significance142936520RCV000552092|RCV002413604; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252514852514855:g.251485C>GClinGen:CA112783565C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg)6389SDHAUncertain significance1579438883RCV000797716|RCV003225735; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452514862514865:g.251486T>G-
NM_004168.4(SDHA):c.1699G>A (p.Glu567Lys)6389SDHAUncertain significance1736816371RCV001325325; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251488251488251488-
NM_004168.4(SDHA):c.1702C>G (p.Leu568Val)6389SDHAUncertain significance1554001912RCV000527972; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251491251491NC_000005.9:g.251491C>GClinGen:CA359000014C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1707G>A (p.Gln569=)6389SDHALikely benign959934068RCV000567195|RCV000922848; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252514962514965:g.251496G>AClinGen:CA112783567C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr)6389SDHAUncertain significance1561010778RCV000704274; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251497251497NC_000005.9:g.251497A>T-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1710C>A (p.Asn570Lys)6389SDHAUncertain significance-1RCV002635034; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251499251499NC_000005.9:g.251499C>A-
NM_004168.4(SDHA):c.1711C>G (p.Leu571Val)6389SDHAUncertain significance1377424433RCV001932947|RCV002397908; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251500251500251500-
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro)6389SDHAUncertain significance1736817446RCV001054131|RCV002282442; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN16937452515012515015:g.251501T>C-
NM_004168.4(SDHA):c.1715T>G (p.Met572Arg)6389SDHAUncertain significance1554001925RCV000540559; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852515042515045:g.251504T>GClinGen:CA359000079C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1715T>C (p.Met572Thr)6389SDHAUncertain significance1554001925RCV001370334|RCV003169902; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251504251504251504-
NM_004168.4(SDHA):c.1716dup (p.Leu573fs)6389SDHAPathogenic-1RCV002414754|RCV003097158; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251504251505251504-
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val)6389SDHAUncertain significance1445945083RCV000702338|RCV002397461|RCV003153817|RCV003472238; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|5251506251506NC_000005.9:g.251506C>G-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1719G>T (p.Leu573=)6389SDHALikely benign-1RCV003090804; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251508251508-
NM_004168.4(SDHA):c.1721G>A (p.Cys574Tyr)6389SDHAUncertain significance2126633379RCV001983803; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251510251510251510-
NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr)6389SDHAUncertain significance1301370839RCV000705288; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515122515125:g.251512G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val)6389SDHAUncertain significance750327309RCV000467983|RCV000487393|RCV000572994|RCV000663257|RCV002268094|RCV003476132; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:6141655251513251513NC_000005.9:g.251513C>TClinGen:CA3173339C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1725G>A (p.Ala575=)6389SDHAConflicting interpretations of pathogenicity758252610RCV000466412|RCV000561801|RCV001156241|RCV001156242|RCV001156240; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:5251514251514NC_000005.9:g.251514G>AClinGen:CA3173340C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1725G>T (p.Ala575=)6389SDHALikely benign758252610RCV002205101|RCV002398186; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251514251514251514-
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro)6389SDHAUncertain significance1318046349RCV000700734|RCV001157918|RCV001156243|RCV001157917|RCV002406623; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:00052515162515165:g.251516T>C-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1728G>A (p.Leu576=)6389SDHALikely benign1736819188RCV001464556|RCV002405090; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251517251517251517-
NM_004168.4(SDHA):c.1733C>A (p.Thr578Asn)6389SDHAUncertain significance1349207461RCV001969208; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251522251522251522-
NM_004168.4(SDHA):c.1733C>T (p.Thr578Ile)6389SDHAUncertain significance1349207461RCV002043820|RCV002398121; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251522251522251522-
NM_004168.4(SDHA):c.1734C>G (p.Thr578=)6389SDHALikely benign748328205RCV001012943|RCV001417433; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251523251523NC_000005.9:g.251523C>GClinGen:CA3173342C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1735A>G (p.Ile579Val)6389SDHAUncertain significance1042052RCV001301482; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251524251524251524-
NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr)6389SDHAUncertain significance1323205068RCV000804084; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515252515255:g.251525T>C-
NM_004168.4(SDHA):c.1737C>T (p.Ile579=)6389SDHALikely benign201454617RCV000475760|RCV001012952|RCV001082233|RCV003316633; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:6141655251526251526NC_000005.9:g.251526C>TClinGen:CA3173343C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1738T>C (p.Tyr580His)6389SDHAUncertain significance1042056RCV000649423|RCV002397290; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252515272515275:g.251527T>CClinGen:CA359000197C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1739A>G (p.Tyr580Cys)6389SDHAUncertain significance372707443RCV001012930|RCV001234032; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515282515285:g.251528A>G-
NM_004168.4(SDHA):c.1739A>T (p.Tyr580Phe)6389SDHAUncertain significance-1RCV002304817|RCV002400430; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251528251528251528-
NM_004168.4(SDHA):c.1740C>T (p.Tyr580=)6389SDHALikely benign3181540RCV000574909|RCV000649487; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515292515295:g.251529C>TClinGen:CA3173345C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg)6389SDHALikely pathogenic771111180RCV000693056|RCV001012918|RCV001799698; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D052515302515305:g.251530G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1741G>T (p.Gly581Ter)6389SDHAPathogenic-1RCV002834957; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251530251530NC_000005.9:g.251530G>T-
NM_004168.4(SDHA):c.1743_1744del (p.Ala582fs)6389SDHAPathogenic2126633505RCV002002449; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251531251532251530-
NM_004168.4(SDHA):c.1744G>C (p.Ala582Pro)6389SDHAUncertain significance1736821952RCV001351177|RCV002404833; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251533251533251533-
NM_004168.4(SDHA):c.1750G>A (p.Ala584Thr)6389SDHAUncertain significance878854629RCV000230255; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251539251539NC_000005.9:g.251539G>AClinGen:CA10582431C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val)6389SDHAConflicting interpretations of pathogenicity201068049RCV000232844|RCV000419445|RCV000564512|RCV003475073; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:61364252515402515405:g.251540C>TClinGen:CA3173347C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1751_1752inv (p.Ala584Val)6389SDHAUncertain significance-1RCV001239330; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251540251541NC_000005.9:g.251540_251541inv-
NM_004168.4(SDHA):c.1752A>G (p.Ala584=)6389SDHABenign13070RCV000118315|RCV000162485|RCV000268103|RCV000323384|RCV000359489|RCV001513598|RCV001705858|RCV003315679; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:290752515412515415:g.251541A>GClinGen:CA155148C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)6389SDHAPathogenic-1RCV000689287; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251541251542NC_000005.9:g.251541_251542inv-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)6389SDHAConflicting interpretations of pathogenicity200397144RCV000148027|RCV000163558|RCV000464783|RCV000762143|RCV000765834|RCV001824123|RCV003474794; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|5251542251542NC_000005.9:g.251542C>TClinGen:CA188615,OMIM:600857.0009C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)6389SDHAConflicting interpretations of pathogenicity752360961RCV000227812|RCV000410930|RCV001013022|RCV001799642|RCV003475074; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|52515432515435:g.251543G>AClinGen:CA3173348C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs)6389SDHAPathogenic1561010916RCV001899180; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251543251547251542-
NM_004168.4(SDHA):c.1755G>A (p.Arg585=)6389SDHALikely benign760254364RCV001460934; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251544251544251544-
NM_004168.4(SDHA):c.1756A>G (p.Lys586Glu)6389SDHAUncertain significance1736823607RCV001303025; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251545251545251545-
NM_004168.4(SDHA):c.1758G>A (p.Lys586=)6389SDHALikely benign1554001953RCV001459358; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251547251547251547-
NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys)6389SDHAUncertain significance1554001954RCV000649395; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515482515485:g.251548G>AClinGen:CA359000305C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1761G>A (p.Glu587=)6389SDHALikely benign2126633619RCV001396044|RCV002413937; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251550251550251550-
NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu)6389SDHAUncertain significance1579439198RCV000806707; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515522515525:g.251552C>T-
NM_004168.4(SDHA):c.1764dup (p.Arg589fs)6389SDHAPathogenic2126633648RCV001917391; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251552251553251552-
NM_004168.4(SDHA):c.1764A>G (p.Ser588=)6389SDHALikely benign2126633642RCV001481633; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251553251553251553-
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)6389SDHAPathogenic/Likely pathogenic387906780RCV000023042|RCV000554026|RCV000564186|RCV001799611|RCV003162258|RCV003473121; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|52515542515545:g.251554C>TOMIM:600857.0005,ClinGen:CA342723,UniProtKB:P31040#VAR_065975C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1765C>A (p.Arg589=)6389SDHALikely benign387906780RCV001013029|RCV001459383; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515542515545:g.251554C>A-
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly)6389SDHALikely pathogenic387906780RCV001234597; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515542515545:g.251554C>G-
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln)6389SDHALikely pathogenic763766162RCV000467377|RCV001799664|RCV002402299|RCV003476121; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:00155251555251555NC_000005.9:g.251555G>AClinGen:CA3173350C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1769del (p.Gly590fs)6389SDHALikely pathogenic1554001958RCV000530189; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251555251555NC_000005.9:g.251558delClinGen:CA658657413C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1773_1774dup (p.His592fs)6389SDHALikely pathogenic1561010948RCV000691877; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515572515585:g.251557_251558insGC-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1768G>A (p.Gly590Ser)6389SDHAUncertain significance1736825032RCV001317338; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251557251557251557-
NM_004168.4(SDHA):c.1769G>A (p.Gly590Asp)6389SDHAUncertain significance2126633698RCV002009555; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251558251558251558-
NM_004168.4(SDHA):c.1770C>T (p.Gly590=)6389SDHALikely benign142457602RCV000547065|RCV002404528; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251559251559NC_000005.9:g.251559C>TClinGen:CA3173351C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1770C>A (p.Gly590=)6389SDHALikely benign142457602RCV002155760; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251559251559251559-
NM_004168.4(SDHA):c.1770C>G (p.Gly590=)6389SDHALikely benign142457602RCV002216389; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251559251559251559-
NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr)6389SDHAUncertain significance1042170RCV000460826|RCV001013059|RCV003441889|RCV003476130; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:6136425251560251560NC_000005.9:g.251560G>AClinGen:CA3173352C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1772C>T (p.Ala591Val)6389SDHAUncertain significance367621815RCV000555083|RCV001013062|RCV002252166|RCV003476309; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162||MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452515612515615:g.251561C>TClinGen:CA112783592C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1773G>C (p.Ala591=)6389SDHALikely benign555028212RCV000463453|RCV002402371; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251562251562NC_000005.9:g.251562G>CClinGen:CA3173355C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1773G>A (p.Ala591=)6389SDHALikely benign555028212RCV000530893|RCV001013065; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252515622515625:g.251562G>AClinGen:CA3173354C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1773G>T (p.Ala591=)6389SDHALikely benign-1RCV002407674|RCV003108090; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251562251562-
NM_004168.4(SDHA):c.1774C>A (p.His592Asn)6389SDHAUncertain significance1579439269RCV000801678|RCV002397618; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252515632515635:g.251563C>A-
NM_004168.4(SDHA):c.1774C>T (p.His592Tyr)6389SDHAUncertain significance1579439269RCV000820093; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515632515635:g.251563C>T-
NM_004168.4(SDHA):c.1775A>G (p.His592Arg)6389SDHAUncertain significance1554001966RCV000543362|RCV002404529; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252515642515645:g.251564A>GClinGen:CA359000386C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1776T>C (p.His592=)6389SDHABenign/Likely benign1126538RCV000130494|RCV000205292|RCV000243217|RCV000264789|RCV000329216|RCV000383884|RCV003315895; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:2952515652515655:g.251565T>CClinGen:CA345712C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1776T>G (p.His592Gln)6389SDHAUncertain significance1126538RCV000699883; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515652515655:g.251565T>G-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1777G>A (p.Ala593Thr)6389SDHAUncertain significance1736827311RCV001213612; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515662515665:g.251566G>A-
NM_004168.4(SDHA):c.1778C>A (p.Ala593Asp)6389SDHAUncertain significance1736827451RCV001220797; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515672515675:g.251567C>A-
NM_004168.4(SDHA):c.1778C>T (p.Ala593Val)6389SDHAUncertain significance1736827451RCV001239207; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515672515675:g.251567C>T-
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys)6389SDHAConflicting interpretations of pathogenicity1302547655RCV000803949|RCV001089548|RCV003338812; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252515702515705:g.251570G>A-
NM_004168.4(SDHA):c.1781G>T (p.Arg594Met)6389SDHAUncertain significance-1RCV002829535; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251570251570NC_000005.9:g.251570G>T-
NM_004168.4(SDHA):c.1782G>A (p.Arg594=)6389SDHALikely benign751329013RCV000649465|RCV002397293; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252515712515715:g.251571G>AClinGen:CA3173356C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1783G>A (p.Glu595Lys)6389SDHAUncertain significance-1RCV002999382; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251572251572NC_000005.9:g.251572G>A-
NM_004168.4(SDHA):c.1786G>C (p.Asp596His)6389SDHAUncertain significance371304688RCV000570123|RCV000805593; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251575251575NC_000005.9:g.251575G>CClinGen:CA359000449C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1786G>T (p.Asp596Tyr)6389SDHAUncertain significance371304688RCV001935549|RCV002397912; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251575251575251575-
NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly)6389SDHAUncertain significance1126557RCV000560589|RCV000562151|RCV001755879|RCV003409812; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|52515762515765:g.251576A>GClinGen:CA3173359C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1789T>C (p.Tyr597His)6389SDHAUncertain significance1060503721RCV000469710|RCV002411518; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251578251578NC_000005.9:g.251578T>CClinGen:CA16611990C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1790A>T (p.Tyr597Phe)6389SDHAUncertain significance1736828708RCV001202665; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515792515795:g.251579A>T-
NM_004168.4(SDHA):c.1790A>G (p.Tyr597Cys)6389SDHAUncertain significance1736828708RCV001926240|RCV002397920; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251579251579251579-
NM_004168.4(SDHA):c.1791C>T (p.Tyr597=)6389SDHALikely benign1226155499RCV002103020; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251580251580251580-
NM_004168.4(SDHA):c.1792A>G (p.Lys598Glu)6389SDHAUncertain significance2126633857RCV001364671|RCV002404866; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251581251581251581-
NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg)6389SDHAUncertain significance1579439363RCV000795043|RCV002255522; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252515822515825:g.251582A>G-
NM_004168.4(SDHA):c.1794G>A (p.Lys598=)6389SDHAUncertain significance1554001975RCV000536643; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251583251583NC_000005.9:g.251583G>AClinGen:CA442657923C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1794+1G>A6389SDHALikely pathogenic876659595RCV000215067|RCV001071130; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515842515845:g.251584G>AClinGen:CA10578632C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1794+3G>C6389SDHAConflicting interpretations of pathogenicity375883981RCV000222853|RCV000230640|RCV001753651|RCV003401134; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|52515862515865:g.251586G>CClinGen:CA3173360C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1794+3G>A6389SDHAUncertain significance375883981RCV000649437|RCV002406448; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625251586251586NC_000005.9:g.251586G>AClinGen:CA3173361C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1794+5G>C6389SDHAUncertain significance1205244370RCV001979288; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251588251588251588-
NM_004168.4(SDHA):c.1794+5G>A6389SDHAUncertain significance-1RCV002407780|RCV003097247; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251588251588251588-
NM_004168.4(SDHA):c.1794+6C>T6389SDHALikely benign-1RCV002825362; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251589251589NC_000005.9:g.251589C>T-
NM_004168.4(SDHA):c.1794+8T>A6389SDHALikely benign1050394308RCV000460313; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251591251591NC_000005.9:g.251591T>AClinGen:CA16611847C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1794+8T>G6389SDHALikely benign1050394308RCV000649471; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252515912515915:g.251591T>GClinGen:CA658796493C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1794+10C>T6389SDHALikely benign1060505010RCV000456309; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251593251593NC_000005.9:g.251593C>TClinGen:CA16611901C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1794+11T>C6389SDHALikely benign-1RCV002740344; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251594251594NC_000005.9:g.251594T>C-
NM_004168.4(SDHA):c.1794+14C>G6389SDHALikely benign1412436993RCV002129016; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251597251597251597-
NM_004168.4(SDHA):c.1794+15C>T6389SDHALikely benign-1RCV003089613; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251598251598NC_000005.9:g.251598C>T-
NM_004168.4(SDHA):c.1794+17C>T6389SDHALikely benign747352875RCV002082675; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085251600251600251600-
NM_004168.4(SDHA):c.1794+18G>A6389SDHALikely benign768882490RCV002182070; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251601251601251601-
NM_004168.4(SDHA):c.1794+18G>T6389SDHALikely benign-1RCV003032689; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251601251601NC_000005.9:g.251601G>T-
NM_004168.4(SDHA):c.1794+19C>A6389SDHALikely benign776409305RCV002098359; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251602251602251602-
NM_004168.4(SDHA):c.1794+20C>A6389SDHALikely benign2126633960RCV002165965; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725251603251603251603-
NM_004168.4(SDHA):c.1795-66C>T6389SDHABenign387134RCV001544167|RCV001544166|RCV001544302; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:6192595254442254442254442-
NM_004168.4(SDHA):c.1795-6C>A6389SDHAUncertain significance756792828RCV001036595; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852545022545025:g.254502C>A-
NM_004168.4(SDHA):c.1795-5C>T6389SDHAConflicting interpretations of pathogenicity1169912956RCV000998349|RCV001415584; NMedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252545032545035:g.254503C>T-
NM_004168.4(SDHA):c.1795-3C>G6389SDHAConflicting interpretations of pathogenicity544544409RCV000998350|RCV001056823|RCV001013116; NMedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252545052545055:g.254505C>G-
NM_004168.4(SDHA):c.1795-1G>T6389SDHAPathogenic/Likely pathogenic778516878RCV000853252|RCV001013115|RCV001379066; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252545072545075:g.254507G>T-
NM_004168.4(SDHA):c.1797G>A (p.Val599=)6389SDHALikely benign1060505012RCV001506605; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254510254510NC_000005.9:g.254510G>AClinGen:CA16611902C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp)6389SDHAUncertain significance878854630RCV000233512|RCV002411041|RCV002500782|RCV002510828; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MO52545112545115:g.254511C>TClinGen:CA10582432C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)6389SDHAConflicting interpretations of pathogenicity1126568RCV000246566|RCV000568295|RCV001245529|RCV001528683|RCV001799648|RCV003447520|RCV003475856; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|Human Phenotype Ontology:HP:0105254512254512NC_000005.9:g.254512G>AClinGen:CA3173431C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1804G>A (p.Asp602Asn)6389SDHAUncertain significance1737043619RCV001306645|RCV003166745; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254517254517254517-
NM_004168.4(SDHA):c.1806T>C (p.Asp602=)6389SDHALikely benign1554002427RCV000543136|RCV002413605; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254519254519NC_000005.9:g.254519T>CClinGen:CA359001660C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1808A>G (p.Glu603Gly)6389SDHAUncertain significance1737044250RCV001347354; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254521254521254521-
NM_004168.4(SDHA):c.1811A>G (p.Tyr604Cys)6389SDHAUncertain significance1737044552RCV001215822; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252545242545245:g.254524A>G-
NM_004168.4(SDHA):c.1812C>T (p.Tyr604=)6389SDHALikely benign1436919553RCV000649469|RCV002406451|RCV002477442; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C366190052545252545255:g.254525C>TClinGen:CA359001700C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn)6389SDHAUncertain significance771593214RCV000649401|RCV002406446; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252545262545265:g.254526G>AClinGen:CA3173432C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1813G>C (p.Asp605His)6389SDHAUncertain significance771593214RCV000649442|RCV002406449; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252545262545265:g.254526G>CClinGen:CA359001707C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1816T>A (p.Tyr606Asn)6389SDHAUncertain significance17400614RCV001996416; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254529254529254529-
NM_004168.4(SDHA):c.1818C>T (p.Tyr606=)6389SDHALikely benign1226342299RCV001474951|RCV002414142; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254531254531254531-
NM_004168.4(SDHA):c.1819T>C (p.Ser607Pro)6389SDHAUncertain significance1183122120RCV001220657|RCV002411815; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252545322545325:g.254532T>C-
NM_004168.4(SDHA):c.1825C>T (p.Pro609Ser)6389SDHAUncertain significance1737046014RCV001235732; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252545382545385:g.254538C>T-
NM_004168.4(SDHA):c.1826C>G (p.Pro609Arg)6389SDHAUncertain significance2126641323RCV001359503; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254539254539254539-
NM_004168.4(SDHA):c.1827C>A (p.Pro609=)6389SDHALikely benign1060505006RCV000474438|RCV002255414; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254540254540NC_000005.9:g.254540C>AClinGen:CA16611904C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1827C>T (p.Pro609=)6389SDHALikely benign1060505006RCV001398250; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254540254540254540-
NM_004168.4(SDHA):c.1828A>G (p.Ile610Val)6389SDHAUncertain significance1554002446RCV000649412|RCV002406447; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252545412545415:g.254541A>GClinGen:CA359001814C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1830C>G (p.Ile610Met)6389SDHAUncertain significance1209697697RCV000802672|RCV002406780; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252545432545435:g.254543C>G-
NM_004168.4(SDHA):c.1832A>G (p.Gln611Arg)6389SDHAUncertain significance1737046877RCV001348869; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254545254545254545-
NM_004168.4(SDHA):c.1834G>A (p.Gly612Arg)6389SDHAUncertain significance1737047578RCV001327512; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254547254547254547-
NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu)6389SDHAUncertain significance1057523336RCV000424508|RCV000696172|RCV001013331|RCV003409604; NMedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|52545482545485:g.254548G>AClinGen:CA16605350C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1843AAG[1] (p.Lys616del)6389SDHAUncertain significance1737048556RCV001236554; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252545542545565:g.254554_254556del-
NM_004168.4(SDHA):c.1842G>A (p.Gln614=)6389SDHALikely benign2126641413RCV001398650; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254555254555254555-
NM_004168.4(SDHA):c.1845G>A (p.Lys615=)6389SDHALikely benign1442827207RCV001399841|RCV003355456; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254558254558254558-
NM_004168.4(SDHA):c.1846A>G (p.Lys616Glu)6389SDHAUncertain significance1453752069RCV001051757; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852545592545595:g.254559A>G-
NM_004168.4(SDHA):c.1846A>T (p.Lys616Ter)6389SDHAPathogenic-1RCV002877619; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254559254559NC_000005.9:g.254559A>T-
NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser)6389SDHAUncertain significance1199988395RCV000560099|RCV003352923; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254562254562NC_000005.9:g.254562C>TClinGen:CA359001942C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1850C>T (p.Pro617Leu)6389SDHAUncertain significance1485754812RCV001343849; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254563254563254563-
NM_004168.4(SDHA):c.1857G>A (p.Glu619=)6389SDHALikely benign1247081812RCV000536406|RCV002413606; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252545702545705:g.254570G>AClinGen:CA359001980C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1860G>A (p.Glu620=)6389SDHALikely benign1447230295RCV001409858|RCV002413973; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254573254573254573-
NM_004168.4(SDHA):c.1861C>G (p.His621Asp)6389SDHAUncertain significance1554002475RCV000799620; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252545742545745:g.254574C>G-
NM_004168.4(SDHA):c.1862A>G (p.His621Arg)6389SDHAUncertain significance1737050290RCV001326946|RCV003346472; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254575254575254575-
NM_004168.4(SDHA):c.1863C>G (p.His621Gln)6389SDHAUncertain significance1554002478RCV000548911|RCV002413607|RCV003476310; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452545762545765:g.254576C>GClinGen:CA359001997C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter)6389SDHAConflicting interpretations of pathogenicity1579445179RCV000813142|RCV001523817|RCV002462179; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN51720252545792545795:g.254579G>A-
NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg)6389SDHAUncertain significance1579445190RCV000794154; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252545842545845:g.254584A>G-
NM_004168.4(SDHA):c.1873C>T (p.His625Tyr)6389SDHAUncertain significance1554002483RCV000524624; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852545862545865:g.254586C>TClinGen:CA359002059C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1875C>T (p.His625=)6389SDHALikely benign1579445214RCV001013495|RCV001451921; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252545882545885:g.254588C>T-
NM_004168.4(SDHA):c.1878C>T (p.Thr626=)6389SDHALikely benign1579445226RCV001472426; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252545912545915:g.254591C>T-
NM_004168.4(SDHA):c.1880dup (p.Ser628fs)6389SDHAUncertain significance1579445237RCV000801184; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252545922545935:g.254592_254593insT-
NM_004168.4(SDHA):c.1879C>T (p.Leu627=)6389SDHALikely benign1169965410RCV001460711; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254592254592254592-
NM_004168.4(SDHA):c.1880T>G (p.Leu627Arg)6389SDHAUncertain significance1737051659RCV001343344|RCV003365348; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254593254593254593-
NM_004168.4(SDHA):c.1881G>C (p.Leu627=)6389SDHALikely benign1390181757RCV002075064|RCV002407392; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254594254594254594-
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)6389SDHAConflicting interpretations of pathogenicity750865703RCV000537063|RCV001013539|RCV001555544|RCV003451192|RCV003476311; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:6141655254597254598NC_000005.9:g.254598dupClinGen:CA3173435C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1884C>G (p.Ser628=)6389SDHALikely benign1224468457RCV001213221|RCV002411786; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252545972545975:g.254597C>G-
NM_004168.4(SDHA):c.1884C>T (p.Ser628=)6389SDHALikely benign1224468457RCV002133046; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254597254597254597-
NM_004168.4(SDHA):c.1885T>A (p.Tyr629Asn)6389SDHAUncertain significance1579445293RCV000819886; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252545982545985:g.254598T>A-
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe)6389SDHABenign/Likely benign6960RCV000210491|RCV000325852|RCV000243534|RCV000270762|RCV000389777|RCV000492773|RCV001658006|RCV003316164; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085254599254599NC_000005.9:g.254599A>TClinGen:CA358567,UniProtKB:P31040#VAR_071037C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser)6389SDHAUncertain significance6960RCV000649426; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252545992545995:g.254599A>CClinGen:CA359002158C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys)6389SDHAUncertain significance6960RCV001013540|RCV001052870|RCV003473570|RCV003159171; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154|Me52545992545995:g.254599A>G-
NM_004168.4(SDHA):c.1889T>C (p.Val630Ala)6389SDHAUncertain significance1392791825RCV000705910|RCV002406647; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254602254602NC_000005.9:g.254602T>C-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1890G>C (p.Val630=)6389SDHALikely benign1405784467RCV001013473|RCV001410466; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252546032546035:g.254603G>C-
NM_004168.4(SDHA):c.1890G>A (p.Val630=)6389SDHAUncertain significance1405784467RCV002004245; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254603254603254603-
NM_004168.4(SDHA):c.1891G>A (p.Asp631Asn)6389SDHAUncertain significance776500078RCV001245717; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252546042546045:g.254604G>A-
NM_004168.4(SDHA):c.1893C>T (p.Asp631=)6389SDHALikely benign1364764796RCV000649482|RCV002406452; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254606254606NC_000005.9:g.254606C>TClinGen:CA359002213C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1893C>A (p.Asp631Glu)6389SDHAUncertain significance1364764796RCV001297559; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254606254606254606-
NM_004168.4(SDHA):c.1894G>A (p.Val632Ile)6389SDHAConflicting interpretations of pathogenicity369639811RCV000525826|RCV001013519; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252546072546075:g.254607G>AClinGen:CA3173439C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe)6389SDHAConflicting interpretations of pathogenicity369639811RCV000575685|RCV000539102|RCV003313101; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C36619005254607254607NC_000005.9:g.254607G>TClinGen:CA3173438C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1895T>C (p.Val632Ala)6389SDHAUncertain significance774609159RCV000821481|RCV002408982; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252546082546085:g.254608T>C-
NM_004168.4(SDHA):c.1896T>C (p.Val632=)6389SDHAConflicting interpretations of pathogenicity1554002492RCV002104278|RCV002480982|RCV002409556; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254609254609254609-
NM_004168.4(SDHA):c.1897G>A (p.Gly633Ser)6389SDHAConflicting interpretations of pathogenicity2126641674RCV001366404|RCV002413875; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254610254610254610-
NM_004168.4(SDHA):c.1900A>G (p.Thr634Ala)6389SDHAUncertain significance1017441235RCV000465027|RCV002411519; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254613254613NC_000005.9:g.254613A>GClinGen:CA16612060C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1900A>T (p.Thr634Ser)6389SDHAUncertain significance1017441235RCV001064925; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252546132546135:g.254613A>T-
NM_004168.4(SDHA):c.1902T>G (p.Thr634=)6389SDHALikely benign2126641691RCV001475201; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254615254615254615-
NM_004168.4(SDHA):c.1903G>A (p.Gly635Arg)6389SDHAUncertain significance1737055056RCV001344337; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254616254616254616-
NM_004168.4(SDHA):c.1908G>T (p.Lys636Asn)6389SDHAUncertain significance1244151760RCV001326893|RCV002412048; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625254621254621254621-
NM_004168.4(SDHA):c.1908+2T>C6389SDHAUncertain significance1737056056RCV001306427; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254623254623254623-
NM_004168.4(SDHA):c.1908+5G>C6389SDHAUncertain significance759574062RCV001987657; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725254626254626254626-
NM_004168.4(SDHA):c.1908+6T>C6389SDHAUncertain significance1359050908RCV000527847|RCV003476312; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:1545254627254627NC_000005.9:g.254627T>CClinGen:CA557103331C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1908+8T>G6389SDHALikely benign2126641731RCV001457829; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085254629254629254629-
NM_004168.4(SDHA):c.1908+9G>A6389SDHALikely benign767578208RCV000540014; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085254630254630NC_000005.9:g.254630G>AClinGen:CA3173442C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1908+10G>A6389SDHALikely benign1579445450RCV001432294; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852546312546315:g.254631G>A-
NM_004168.4(SDHA):c.1908+15C>T6389SDHABenign/Likely benign34504623RCV000249299|RCV000294605|RCV000349503|RCV000385355|RCV001812726|RCV003316404|RCV002411119; NMedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:6141655254636254636NC_000005.9:g.254636C>TClinGen:CA3173444C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.1908+85G>A6389SDHABenign6864807RCV000987496; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852547062547065:g.254706G>A-
NM_004168.4(SDHA):c.1908+90A>G6389SDHABenign6888536RCV000987497; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852547112547115:g.254711A>G-
NM_004168.4(SDHA):c.1909-20C>A6389SDHALikely benign1737178548RCV002176336; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256429256429256429-
NM_004168.4(SDHA):c.1909-16_1909-13del6389SDHALikely benign2126645630RCV002076539; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085256430256433256429-
NM_004168.4(SDHA):c.1909-18C>T6389SDHALikely benign781153748RCV002182871; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256431256431256431-
NM_004168.4(SDHA):c.1909-16G>A6389SDHALikely benign-1RCV002857604; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256433256433NC_000005.9:g.256433G>A-
NM_004168.4(SDHA):c.1909-15A>C6389SDHALikely benign1189118840RCV002187315; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085256434256434256434-
NM_004168.4(SDHA):c.1909-15A>G6389SDHALikely benign-1RCV003085917; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256434256434NC_000005.9:g.256434A>G-
NM_004168.4(SDHA):c.1909-12_1909-11del6389SDHAConflicting interpretations of pathogenicity372662724RCV000281629|RCV000337728|RCV000394391|RCV000483037|RCV000492532|RCV001354980|RCV002061279; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015256435256436NC_000005.9:g.256435CT[1]ClinGen:CA3173456C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1909-9_1909-7del6389SDHALikely benign-1RCV002632732; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256436256438NC_000005.9:g.256437CTT[1]-
NM_004168.4(SDHA):c.1909-8_1909-4del6389SDHAUncertain significance1737179400RCV001238891; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252564382564425:g.256438_256442del-
NM_004168.4(SDHA):c.1909-11T>G6389SDHALikely benign2126645679RCV002177144; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256438256438256438-
NM_004168.4(SDHA):c.1909-9C>T6389SDHALikely benign2126645687RCV001443345; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085256440256440256440-
NM_004168.4(SDHA):c.1909-9C>G6389SDHALikely benign-1RCV002584357; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256440256440NC_000005.9:g.256440C>G-
NM_004168.4(SDHA):c.1909-6T>C6389SDHALikely benign-1RCV002857334; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256443256443NC_000005.9:g.256443T>C-
NM_004168.4(SDHA):c.1909-5T>C6389SDHAConflicting interpretations of pathogenicity1197849830RCV001067730|RCV002411598; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252564442564445:g.256444T>C-
NM_004168.4(SDHA):c.1909-5T>G6389SDHAUncertain significance1197849830RCV002042725; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256444256444256444-
NM_004168.4(SDHA):c.1909-3A>G6389SDHAUncertain significance-1RCV002408408|RCV003100928; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256446256446256446-
NM_004168.4(SDHA):c.1909-2A>G6389SDHAConflicting interpretations of pathogenicity747939816RCV000565006|RCV000692849; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252564472564475:g.256447A>GClinGen:CA3173457C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1909-1G>A6389SDHAConflicting interpretations of pathogenicity1159597886RCV000574361|RCV001203781; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252564482564485:g.256448G>AClinGen:CA359002550C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1909G>A (p.Val637Ile)6389SDHAUncertain significance769599373RCV000792459|RCV003166093; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252564492564495:g.256449G>A-
NM_004168.4(SDHA):c.1910T>C (p.Val637Ala)6389SDHAUncertain significance1737179959RCV001346382|RCV002412089; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256450256450256450-
NM_004168.4(SDHA):c.1911C>T (p.Val637=)6389SDHABenign/Likely benign11557098RCV000210496|RCV000343504|RCV000298002|RCV000402055|RCV000426571|RCV000564874|RCV001579978|RCV003316167; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:01005256451256451NC_000005.9:g.256451C>TClinGen:CA358569C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1913del (p.Thr638fs)6389SDHAUncertain significance1554002857RCV000649411; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256453256453NC_000005.9:g.256453delClinGen:CA658796494C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile)6389SDHAUncertain significance370133236RCV000812350|RCV001013675; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252564532564535:g.256453C>T-
NM_004168.4(SDHA):c.1913C>G (p.Thr638Ser)6389SDHAUncertain significance370133236RCV002042621; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256453256453256453-
NM_004168.4(SDHA):c.1914T>C (p.Thr638=)6389SDHALikely benign2126645757RCV001476197|RCV002414151; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256454256454256454-
NM_004168.4(SDHA):c.1915C>G (p.Leu639Val)6389SDHAUncertain significance1126697RCV000552499|RCV000563708|RCV002509436; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C36619005256455256455NC_000005.9:g.256455C>GClinGen:CA3173460C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)6389SDHAConflicting interpretations of pathogenicity372480044RCV000239361|RCV000574591|RCV000663177|RCV000765835|RCV000836807; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|5256459256459NC_000005.9:g.256459A>GClinGen:CA3173461C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1920A>G (p.Glu640=)6389SDHALikely benign2126645771RCV001407237|RCV002413965; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256460256460256460-
NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys)6389SDHAUncertain significance-1RCV003092637; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256462256462NC_000005.9:g.256462A>G-
NM_004168.4(SDHA):c.1923T>C (p.Tyr641=)6389SDHALikely benign1444319863RCV000533337|RCV000571470; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256463256463NC_000005.9:g.256463T>CClinGen:CA359002659C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1926A>G (p.Arg642=)6389SDHALikely benign1554002873RCV000545820|RCV002413609; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256466256466NC_000005.9:g.256466A>GClinGen:CA359002684C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser)6389SDHAUncertain significance1579448568RCV000817037|RCV002406866; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252564672564675:g.256467C>T-
NM_004168.4(SDHA):c.1927C>A (p.Pro643Thr)6389SDHAUncertain significance1579448568RCV001229948|RCV002411846; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252564672564675:g.256467C>A-
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg)6389SDHAUncertain significance1060503717RCV000459590|RCV002475894|RCV003168871; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259; MONDO:MONDO:010025256468256468NC_000005.9:g.256468C>GClinGen:CA16612063C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1929C>T (p.Pro643=)6389SDHALikely benign761201589RCV000552289|RCV000562383; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256469256469NC_000005.9:g.256469C>TClinGen:CA3173462C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1930G>A (p.Val644Met)6389SDHAUncertain significance3211483RCV000475448|RCV000662992|RCV002251478|RCV002411517|RCV003401494|RCV003476126; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,5256470256470NC_000005.9:g.256470G>AClinGen:CA3173463C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1931T>G (p.Val644Gly)6389SDHAUncertain significance-1RCV002706539; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256471256471NC_000005.9:g.256471T>G-
NM_004168.4(SDHA):c.1932G>A (p.Val644=)6389SDHABenign6961RCV000118316|RCV000162483|RCV000273207|RCV000303618|RCV000358445|RCV001513599|RCV001705859|RCV003315680; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32052564722564725:g.256472G>AClinGen:CA155150C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr)6389SDHAUncertain significance1282623859RCV000685210|RCV002406529|RCV003472184; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:15452564742564745:g.256474T>C-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1935C>T (p.Ile645=)6389SDHALikely benign762128553RCV000532848|RCV001013766; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256475256475NC_000005.9:g.256475C>TClinGen:CA3173464C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1935C>G (p.Ile645Met)6389SDHAUncertain significance762128553RCV000693481|RCV002406585; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252564752564755:g.256475C>G-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1935C>A (p.Ile645=)6389SDHALikely benign762128553RCV001461792|RCV002414111; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256475256475256475-
NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn)6389SDHAUncertain significance376986935RCV000686417|RCV002254942|RCV002406538; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256476256476NC_000005.9:g.256476G>A-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1940A>G (p.Lys647Arg)6389SDHAUncertain significance1737186768RCV001232477; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252564802564805:g.256480A>G-
NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro)6389SDHAUncertain significance758054627RCV000460218|RCV000570413; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256482256482NC_000005.9:g.256482A>CClinGen:CA3173467C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser)6389SDHAUncertain significance1420345359RCV000545606|RCV002413610; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256483256483NC_000005.9:g.256483C>GClinGen:CA359002836C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1943del (p.Thr648fs)6389SDHAUncertain significance2126645882RCV001961342; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256483256483256482-
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs)6389SDHAUncertain significance112307877RCV001197787|RCV001528748|RCV003339530; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852564842564855:g.256484_256485del-
NM_004168.4(SDHA):c.1945T>G (p.Leu649Val)6389SDHAUncertain significance1737187966RCV001351552|RCV002413833; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256485256485256485-
NM_004168.4(SDHA):c.1946T>G (p.Leu649Trp)6389SDHAUncertain significance899598021RCV001366168|RCV003284274; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256486256486256486-
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser)6389SDHAUncertain significance1485747007RCV000794100|RCV002406734|RCV002487656; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; M52564892564895:g.256489A>G-
NM_004168.4(SDHA):c.1950C>T (p.Asn650=)6389SDHALikely benign1042430RCV000473028|RCV001013725; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256490256490NC_000005.9:g.256490C>TClinGen:CA3173469C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys)6389SDHAUncertain significance375396913RCV000204436|RCV001013731|RCV003441788|RCV003474987; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:6136425256491256491NC_000005.9:g.256491G>AClinGen:CA348665C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln)6389SDHAUncertain significance375396913RCV000662705|RCV000793459|RCV002422447; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256491256491NC_000005.9:g.256491G>C-C3279992 614165 Paragangliomas 5;
NM_004168.4(SDHA):c.1951del (p.Glu651fs)6389SDHAUncertain significance1561016316RCV000698069; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256491256491NC_000005.9:g.256491del-C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1952A>G (p.Glu651Gly)6389SDHAUncertain significance1737189246RCV001246366; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252564922564925:g.256492A>G-
NM_004168.4(SDHA):c.1953G>A (p.Glu651=)6389SDHALikely benign1579448683RCV001013825|RCV002068877; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252564932564935:g.256493G>A-
NM_004168.4(SDHA):c.1953G>T (p.Glu651Asp)6389SDHAUncertain significance1579448683RCV002027753|RCV002423281; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256493256493256493-
NM_004168.4(SDHA):c.1954G>A (p.Ala652Thr)6389SDHAUncertain significance1737189728RCV001040638; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320852564942564945:g.256494G>A-
NM_004168.4(SDHA):c.1955C>T (p.Ala652Val)6389SDHAUncertain significance1554002888RCV000566977|RCV000688050; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252564952564955:g.256495C>TClinGen:CA359002953C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1958A>T (p.Asp653Val)6389SDHAUncertain significance1737190360RCV001227009; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252564982564985:g.256498A>T-
NM_004168.4(SDHA):c.1958A>C (p.Asp653Ala)6389SDHAUncertain significance1737190360RCV001366085; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256498256498256498-
NM_004168.4(SDHA):c.1959C>T (p.Asp653=)6389SDHALikely benign-1RCV002421678|RCV003097389; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256499256499-
NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly)6389SDHAUncertain significance60587941RCV000649402|RCV003162970; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252565002565005:g.256500T>GClinGen:CA112784567C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1962_1963del (p.Ala655fs)6389SDHAUncertain significance2126645995RCV001965962; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256500256501256499-
NM_004168.4(SDHA):c.1960T>A (p.Cys654Ser)6389SDHAUncertain significance-1RCV002421741|RCV003097391; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256500256500256500-
NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser)6389SDHAUncertain significance1554002895RCV000649429|RCV001013863; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252565012565015:g.256501G>CClinGen:CA359003005C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1963G>C (p.Ala655Pro)6389SDHAUncertain significance-1RCV002913898; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256503256503NC_000005.9:g.256503G>C-
NM_004168.4(SDHA):c.1968C>T (p.Thr656=)6389SDHALikely benign3211499RCV000557985|RCV003431100|RCV002256389; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252565082565085:g.256508C>TClinGen:CA3173472C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)6389SDHABenign6962RCV000118317|RCV000162484|RCV000269248|RCV000309260|RCV000363917|RCV001513600|RCV001705860|RCV003315681; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:290752565092565095:g.256509G>AClinGen:CA155152,UniProtKB:P31040#VAR_049217C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1969G>C (p.Val657Leu)6389SDHAUncertain significance6962RCV001153726|RCV001156338|RCV001156339; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:2907252565092565095:g.256509G>C-
NM_004168.4(SDHA):c.1971C>T (p.Val657=)6389SDHALikely benign746083858RCV000463658|RCV000573225|RCV000615882; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN1693745256511256511NC_000005.9:g.256511C>TClinGen:CA3173474C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1972C>A (p.Pro658Thr)6389SDHAUncertain significance2126646066RCV001975339; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085256512256512256512-
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)6389SDHAConflicting interpretations of pathogenicity377632619RCV000217918|RCV000275247|RCV000333745|RCV000388419|RCV000649461|RCV000765836|RCV001775682|RCV001818525; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0152565132565135:g.256513C>TClinGen:CA3173475C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1974G>C (p.Pro658=)6389SDHABenign/Likely benign1042446RCV000239372|RCV000427231|RCV000568815|RCV001156341|RCV001156342|RCV001156340|RCV001722281; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:2520115256514256514NC_000005.9:g.256514G>CClinGen:CA3173476C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1974G>A (p.Pro658=)6389SDHALikely benign1042446RCV000565278|RCV000827097|RCV001080610; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085256514256514NC_000005.9:g.256514G>AClinGen:CA3173477C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1974G>T (p.Pro658=)6389SDHALikely benign1042446RCV001489218|RCV002416227; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252565142565145:g.256514G>T-
NM_004168.4(SDHA):c.1977A>G (p.Pro659=)6389SDHAConflicting interpretations of pathogenicity768693502RCV001013815|RCV000887554|RCV001158014|RCV001158015|RCV001158016; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:52565172565175:g.256517A>G-
NM_004168.4(SDHA):c.1978G>A (p.Ala660Thr)6389SDHAUncertain significance1554002911RCV000649433|RCV002422381; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016252565182565185:g.256518G>AClinGen:CA359003135C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)6389SDHAConflicting interpretations of pathogenicity191412461RCV000227636|RCV000409751|RCV000563763|RCV000998351|RCV001158018|RCV001158017|RCV001158019|RCV003401176; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|52565192565195:g.256519C>GClinGen:CA3173479C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1979C>T (p.Ala660Val)6389SDHAUncertain significance191412461RCV000813379; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252565192565195:g.256519C>T-
NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys)6389SDHAConflicting interpretations of pathogenicity1737195067RCV001078147|RCV001224277|RCV001759641|RCV002415972; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,O52565242565245:g.256524C>T-
NM_004168.4(SDHA):c.1986C>G (p.Arg662=)6389SDHALikely benign762372686RCV001492306; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:290725256526256526256526-
NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe)6389SDHAUncertain significance1060503719RCV000477211|RCV000574185; NMONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:29072; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625256528256528NC_000005.9:g.256528C>TClinGen:CA16611849C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1989C>T (p.Ser663=)6389SDHALikely benign1554002913RCV000649464; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252565292565295:g.256529C>TClinGen:CA442659766C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.4(SDHA):c.1989C>G (p.Ser663=)6389SDHALikely benign1554002913RCV000979776; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165, Orphanet:2907252565292565295:g.256529C>G-
NM_004168.4(SDHA):c.*75A>G6389SDHAUncertain significance886060517RCV000279520|RCV000330444|RCV000375689; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5065256610256610NC_000005.9:g.256610A>GClinGen:CA10624441C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.*102G>A6389SDHAUncertain significance1009017730RCV001152539|RCV001152540|RCV001152541; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50652566372566375:g.256637G>A-
NM_004168.4(SDHA):c.*133G>C6389SDHAConflicting interpretations of pathogenicity193112615RCV000285270|RCV000334630|RCV000379866; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:32085256668256668NC_000005.9:g.256668G>CClinGen:CA10624444C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.*179G>A6389SDHAUncertain significance980815395RCV001152542|RCV001153826|RCV001153827|RCV002480550; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642, Orphanet:154; MONDO:MONDO:00310052567142567145:g.256714G>A-
NM_004168.4(SDHA):c.*189C>T6389SDHAUncertain significance185107377RCV000309761|RCV000340216|RCV000396725; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:290725256724256724NC_000005.9:g.256724C>TClinGen:CA10624327C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.*249T>C6389SDHAConflicting interpretations of pathogenicity189989110RCV001153828|RCV001153829|RCV001153830; NMONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50652567842567845:g.256784T>C-
NM_001042631.3(SDHAF1):c.-64C>G644096SDHAF1Uncertain significance886054354RCV000350401; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208193648611336486113NC_000019.9:g.36486113C>GClinGen:CA10642654C1855008 252011 Mitochondrial complex II deficiency;
NM_001042631.3(SDHAF1):c.3G>A (p.Met1Ile)644096SDHAF1Uncertain significance1976651034RCV001122156; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320819364861793648617919:g.36486179G>A-
NM_001042631.3(SDHAF1):c.29A>C (p.Gln10Pro)644096SDHAF1Uncertain significance1599670818RCV000852381; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320819364862053648620519:g.36486205A>C-
NM_001042631.3(SDHAF1):c.46C>T (p.Arg16Cys)644096SDHAF1Uncertain significance777257006RCV001122157|RCV003246705; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MeSH:D030342,MedGen:C095012319364862223648622219:g.36486222C>T-
NM_001042631.3(SDHAF1):c.49G>A (p.Asp17Asn)644096SDHAF1Uncertain significance538225779RCV001122158; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320819364862253648622519:g.36486225G>A-
NM_001042631.3(SDHAF1):c.117T>C (p.His39=)644096SDHAF1Uncertain significance754546603RCV001124925; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320819364862933648629319:g.36486293T>C-
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter)644096SDHAF1Conflicting interpretations of pathogenicity768768823RCV000304255|RCV001332725|RCV002272202; NMedGen:CN517202|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0030935,MedGen:C5436933,OMIM:61916619364863323648633219:g.36486332C>AClinGen:CA9393678CN517202 not provided;
NM_001042631.3(SDHAF1):c.319G>T (p.Ala107Ser)644096SDHAF1Uncertain significance956984428RCV001291676; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320819364864953648649536486495-
NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=)644096SDHAF1Benign/Likely benign76336581RCV000173197|RCV000403258|RCV000676630; NMedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900193648650936486509NC_000019.9:g.36486509C>GClinGen:CA302686C1855008 252011 Mitochondrial complex II deficiency;
NM_001042631.3(SDHAF1):c.334C>T (p.Pro112Ser)644096SDHAF1Conflicting interpretations of pathogenicity78119534RCV000128020|RCV000996848|RCV001124926; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320819364865103648651019:g.36486510C>TClinGen:CA293458CN169374 not specified;
NM_001042631.3(SDHAF1):c.*5C>A644096SDHAF1Uncertain significance1234271175RCV001335598; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320819364865293648652936486529-
NM_001042631.3(SDHAF1):c.*66G>A644096SDHAF1Uncertain significance1976659752RCV001124927; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320819364865903648659019:g.36486590G>A-
NM_001042631.3(SDHAF1):c.*156G>T644096SDHAF1Benign/Likely benign115204084RCV000301279|RCV001643024; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C3661900193648668036486680NC_000019.9:g.36486680G>TClinGen:CA10648565C1855008 252011 Mitochondrial complex II deficiency;
NM_001042631.3(SDHAF1):c.*229C>T644096SDHAF1Conflicting interpretations of pathogenicity144661239RCV001124928|RCV001574400; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MedGen:C366190019364867533648675319:g.36486753C>T-
NM_001042631.3(SDHAF1):c.*248C>T644096SDHAF1Uncertain significance552373950RCV001124929; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320819364867723648677219:g.36486772C>T-
NM_001042631.3(SDHAF1):c.*323C>G644096SDHAF1Uncertain significance757546678RCV001125898; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320819364868473648684719:g.36486847C>G-
NM_001042631.3(SDHAF1):c.*327C>A644096SDHAF1Uncertain significance1252756289RCV001125899; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:320819364868513648685119:g.36486851C>A-
NM_001042631.3(SDHAF1):c.*329G>C644096SDHAF1Uncertain significance886054355RCV000356291; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208193648685336486853NC_000019.9:g.36486853G>CClinGen:CA10648566C1855008 252011 Mitochondrial complex II deficiency;
NM_001042631.3(SDHAF1):c.*622A>G644096SDHAF1Benign7925RCV000261418; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208193648714636487146NC_000019.9:g.36487146A>GClinGen:CA10642655C1855008 252011 Mitochondrial complex II deficiency;
NM_001042631.3(SDHAF1):c.*682A>T644096SDHAF1Uncertain significance554739627RCV000298005; NMONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208193648720636487206NC_000019.9:g.36487206A>TClinGen:CA10652385C1855008 252011 Mitochondrial complex II deficiency;
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)6392SDHDPathogenic/Likely pathogenic202198133RCV000144171|RCV000484125|RCV001290090|RCV002415627|RCV002515941; NMONDO:MONDO:0030937,MedGen:C5436934,OMIM:619167|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen11111959626111959626NC_000011.9:g.111959626G>AClinGen:CA016681,UniProtKB:O14521#VAR_074105,OMIM:602690.0029C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile)6392SDHDUncertain significance199869408RCV000455598|RCV000760070|RCV000764954|RCV001020081|RCV002229661; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; Human Phenotype Ontology:HP:0002611111965549111965549NC_000011.9:g.111965549C>TClinGen:CA071254C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.421T>C (p.Tyr141His)6392SDHDUncertain significance1394514096RCV000764955|RCV000986023|RCV002233358|RCV003165869; NMONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C01111196563511196563511:g.111965635T>C-C3554516 Cowden syndrome 3;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000073578 MSeqDR Search EnsemblSDHA131973succinate dehydrogenase complex, subunit A, flavoprotein (Fp) [Source:HGNC Symbol;Acc:10680]00016
ENSG00000205138 MSeqDR Search EnsemblSDHAF11220succinate 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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