MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Metabolism, Inborn Errors (D008661)
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Muscle Hypotonia (D009123)
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Psychomotor Disorders (D011596)
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Fumaric aciduria (C538191)

       Child Nodes:



 Sister Nodes: 
..expandAL-RAQAD SYNDROME (OMIM:616459)
..expandALAZAMI-YUAN SYNDROME (OMIM:617126)
..expandAniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation (C000598722)
..expandApraxias (D001072) Child10
..expandASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
..expandBAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
..expandBASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
..expandBowen-Conradi syndrome (C537081)
..expandC SYNDROME (OMIM:211750)
..expandCEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
..expandCHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..expandCLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
..expandCONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
..expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
..expandDevelopmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..expandDiaminopentanuria (C565630)
..expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..expandEdinburgh Malformation Syndrome (C563051)
..expandFumaric aciduria (C538191)
..expandGenitopatellar Syndrome (C565255)
..expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..expandHAREL-YOON SYNDROME (OMIM:617183)
..expandHEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 (OMIM:616801)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
..expandINFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)  LSDB  L: 00108;
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD (OMIM:617450)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
..expandKEPPEN-LUBINSKY SYNDROME (OMIM:614098)
..expandKozlowski Rafinski Klicharska syndrome (C537509)
..expandMacDermot Winter syndrome (C537714)
..expandMACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
..expandMegarbane syndrome (C536145)
..expandMITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)  LSDB  L: 00041;
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandOGDEN SYNDROME (OMIM:300855)
..expandOKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandPsychomotor Agitation (D011595) Child1
..expandTHAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..expandVERHEIJ SYNDROME (OMIM:615583)
..expandZTTK SYNDROME (OMIM:617140)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4908
Name:Fumaric aciduria
Definition:
Alternative IDs:OMIM:606812
ParentIDs:MESH:D008661|MESH:D009123|MESH:D011596
TreeNumbers:C10.597.606.881/C538191 |C10.597.613.575/C538191 |C16.320.565/C538191 |C18.452.648/C538191 |C23.888.592.604.882/C538191 |C23.888.592.608.575/C538191
Synonyms:FMRD |Fumarase deficiency |Fumarate Hydratase Deficiency |Fumaricaciduria |FUMARIC ACIDURIA
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C538191
MeSH: C538191
OMIM: 606812;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001274Agenesis of corpus callosum
3 HP:0003355Aminoaciduria
4 HP:0000463Anteverted nares
5 HP:0002059Cerebral atrophy
6 HP:0001396Cholestasis
7 HP:0002190Choroid plexus cyst
8 HP:0007620Cutaneous leiomyoma
9 HP:0005280Depressed nasal bridge
10 HP:0001508Failure to thrive
11 HP:0002007Frontal bossing
12 HP:0001290Generalized hypotonia
13 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
14 HP:0001263Global developmental delay
NAMDC:  Mental retardation
15 HP:0001399Hepatic failure
16 HP:0000218High palate
17 HP:0000316Hypertelorism
18 HP:0002365Hypoplasia of the brainstem
19 HP:0002187Intellectual disability, profound
20 HP:0003128Lactic acidosis
21 HP:0001942Metabolic acidosis
22 HP:0000252Microcephaly
23 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
24 HP:0002167Neurological speech impairment
25 HP:0100954Open operculum
26 HP:0000648Optic atrophy
27 HP:0000980Pallor
28 HP:0001901Polycythemia
29 HP:0002126Polymicrogyria
30 HP:0003758Reduced subcutaneous adipose tissue
31 HP:0004482Relative macrocephaly
32 HP:0002133Status epilepticus
33 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000012.11:g.52308281_52308282insAlu94ACVRL1Pathogenic-1RCV001385997|RCV001387523; NMONDO:MONDO:0010880,MedGen:C1838163,OMIM:600376, Orphanet:774|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24125230828152308282nana-1-
NC_000001.10:g.(?_241291947)_(241663758_?)del2271FHPathogenic-1RCV001953611; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241291947241663758nana-1-
NC_000001.11:g.(?_241497557)_(241504245_?)del2271FHPathogenic-1RCV000464442; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241660857241667545nana-C0342770 606812 Fumarase deficiency;
NC_000001.11:g.(?_241497557)_(241519785_?)del2271FHPathogenic-1RCV000457660; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241660857241683085nana-C0342770 606812 Fumarase deficiency;
NM_000143.3(FH):c.*266A>G2271FHConflicting interpretations of pathogenicityrs113667027RCV000343612|RCV000400259; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241660862241660862TC1:g.241660862T>CClinGen:CA10609655C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.*221_*222del2271FHBenign/Likely benignrs112946286RCV000300756|RCV000349527|RCV001651349; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241660906241660907TAATNC_000001.10:g.241660906_241660907delClinGen:CA10609666C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.*211G>C2271FHUncertain significancers1385240800RCV001102506|RCV001102507; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241660917241660917CG1:g.241660917C>G-
NM_000143.4(FH):c.*102T>C2271FHConflicting interpretations of pathogenicityrs200093224RCV000297371|RCV000355546; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241661026241661026AGNC_000001.10:g.241661026A>GClinGen:CA10610740C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.*92G>T2271FHUncertain significancers202167168RCV000321931|RCV000361516; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661036241661036CANC_000001.10:g.241661036C>AClinGen:CA10609668C0342770 606812 Fumarase deficiency;
NC_000001.10:g.(?_241661108)_(242431558_?)del2271FHPathogenic-1RCV001032255; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661108242431558nana-1-
NC_000001.10:g.(?_241661118)_(241683032_?)dup2271FHUncertain significance-1RCV000708073; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661118241683032nana-C0342770 606812 Fumarase deficiency;
NC_000001.11:g.(?_241497818)_(241504255_?)del2271FHPathogenic-1RCV000802586; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661118241667555nana-
NC_000001.11:g.(?_241497818)_(241519732_?)del2271FHPathogenic-1RCV000823953; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661118241683032nana-
NC_000001.11:g.(?_241497818)_(241508795_?)del2271FHPathogenic-1RCV000820593; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661118241672095nana-
NC_000001.11:g.(?_241497818)_(241502580_?)del2271FHPathogenic-1RCV001033601; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661118241665880nana-1-
NC_000001.11:g.(?_241497818)_(241512153_?)del2271FHPathogenic-1RCV001033549; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661118241675453nana-1-
NC_000001.10:g.(?_241661122)_(241683028_?)dup2271FHUncertain significance-1RCV000541848; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661122241683028nana-C0342770 606812 Fumarase deficiency;
NC_000001.10:g.(?_241661128)_(242034263_?)del2271FHPathogenic-1RCV001032378; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661128242034263nana-1-
NC_000001.10:g.(?_241661128)_(242034263_?)dup2271FHUncertain significance-1RCV001033301; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661128242034263nana-1-
NC_000001.11:g.(?_241497828)_(241519722_?)dup2271FHUncertain significance-1RCV001031034; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661128241683022nana-1-
NC_000001.10:g.(?_241661128)_(241661280_?)del2271FHPathogenic-1RCV001386940; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661128241661280nana-1-
NC_000001.10:g.(?_241661128)_(241683022_?)del2271FHPathogenic-1RCV001386938; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661128241683022nana-1-
NC_000001.10:g.(?_241661128)_(241667555_?)del2271FHPathogenic-1RCV001953609; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661128241667555nana-1-
NM_000143.4(FH):c.1532G>C (p.Ter511Ser)2271FHUncertain significance-1RCV001366632; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661129241661129CG241661129-
NM_000143.4(FH):c.1528A>C (p.Lys510Gln)2271FHUncertain significance-1RCV001877499; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661133241661133TG241661133-
NM_000143.4(FH):c.1522G>C (p.Gly508Arg)2271FHUncertain significancers1659661545RCV001218606; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661139241661139CG1:g.241661139C>G-
NM_000143.4(FH):c.1522G>T (p.Gly508Cys)2271FHUncertain significance-1RCV002010937; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661139241661139CA241661139-
NM_000143.4(FH):c.1521G>A (p.Leu507=)2271FHLikely benign-1RCV001429745; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661140241661140CT241661140-
NM_000143.4(FH):c.1520T>C (p.Leu507Pro)2271FHConflicting interpretations of pathogenicityrs1425094515RCV000597494|RCV001379327; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661141241661141AG1:g.241661141A>GClinGen:CA345450002CN169374 not specified;
NM_000143.4(FH):c.1518G>A (p.Met506Ile)2271FHUncertain significance-1RCV002040031; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661143241661143CT241661143-
NM_000143.4(FH):c.1516A>G (p.Met506Val)2271FHUncertain significancers762413315RCV001321323; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661145241661145TC241661145-
NM_000143.4(FH):c.1508_1509insCAAACC (p.Pro503_Lys504dup)2271FHUncertain significancers1060500895RCV000465377; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661152241661153AAGGTTTGNC_000001.10:g.241661157_241661158insGGGTTTClinGen:CA16610022C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1508C>G (p.Pro503Arg)2271FHUncertain significancers1659661748RCV001346446; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661153241661153GC241661153-
NM_000143.4(FH):c.1503A>G (p.Val501=)2271FHLikely benignrs1553340502RCV000635327|RCV001011928; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241661158241661158TC1:g.241661158T>CClinGen:CA424072498C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1501G>A (p.Val501Ile)2271FHUncertain significancers201893992RCV001326410; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661160241661160CT241661160-
NM_000143.4(FH):c.1499G>A (p.Trp500Ter)2271FHPathogenic-1RCV001390600|RCV001780378; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241661162241661162CT241661162-
NM_000143.4(FH):c.1497del (p.Glu499fs)2271FHUncertain significancers1659662318RCV001307877; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661164241661164ATA241661163-
NM_000143.4(FH):c.1495G>A (p.Glu499Lys)2271FHUncertain significancers750838853RCV001011782|RCV001326411|RCV001585920; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN1693741241661166241661166CT1:g.241661166C>T-
NM_000143.4(FH):c.1494C>T (p.Asp498=)2271FHLikely benign-1RCV002126959; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661167241661167GA241661167-
NM_000143.4(FH):c.1489T>C (p.Phe497Leu)2271FHUncertain significance-1RCV001889661; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661172241661172AG241661172-
NM_000143.4(FH):c.1484_1488del (p.Glu495fs)2271FHPathogenicrs1060500907RCV000472606; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661173241661177ACTGCTANC_000001.10:g.241661173CTGCT[1]ClinGen:CA16610096C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1484A>G (p.Glu495Gly)2271FHUncertain significance-1RCV002021804; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661177241661177TC241661177-
NM_000143.4(FH):c.1482A>G (p.Ala494=)2271FHConflicting interpretations of pathogenicityrs201559643RCV000228601|RCV001011810|RCV001097100|RCV001589167; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241661179241661179TC1:g.241661179T>CClinGen:CA1478427C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1481C>G (p.Ala494Gly)2271FHUncertain significancers752369363RCV000635307; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661180241661180GCNC_000001.10:g.241661180G>CClinGen:CA345450421C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1481C>T (p.Ala494Val)2271FHUncertain significancers752369363RCV001210581; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661180241661180GA1:g.241661180G>A-
NM_000143.4(FH):c.1480G>C (p.Ala494Pro)2271FHUncertain significancers1553340508RCV000561988|RCV001829607; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661181241661181CG1:g.241661181C>GClinGen:CA345450431C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1479A>G (p.Thr493=)2271FHLikely benign-1RCV001477299; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661182241661182TC241661182-
NM_000143.4(FH):c.1478C>A (p.Thr493Lys)2271FHUncertain significancers1558395446RCV000707147; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661183241661183GTNC_000001.10:g.241661183G>T-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1478del (p.Thr493fs)2271FHPathogenic-1RCV001881802; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661183241661183TGT241661182-
NM_000143.4(FH):c.1477A>G (p.Thr493Ala)2271FHUncertain significancers777256203RCV001051111; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661184241661184TC1:g.241661184T>C-
NM_000143.4(FH):c.1475_1476del (p.Leu492fs)2271FHPathogenicrs886041201RCV000297629|RCV000494455|RCV000806294; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661185241661186TGATNC_000001.10:g.241661185GA[1]ClinGen:CA10602782C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1476C>G (p.Leu492=)2271FHLikely benign-1RCV001401200; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661185241661185GC241661185-
NM_000143.4(FH):c.1474C>G (p.Leu492Val)2271FHUncertain significancers1659663430RCV001034756; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661187241661187GC1:g.241661187G>C-
NM_000143.4(FH):c.1472A>G (p.Tyr491Cys)2271FHUncertain significancers773801940RCV000565062|RCV001211345; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661189241661189TCNC_000001.10:g.241661189T>CClinGen:CA40371583C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1471T>C (p.Tyr491His)2271FHUncertain significancers749713004RCV000528987|RCV001811037; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241661190241661190AGNC_000001.10:g.241661190A>GClinGen:CA1478431C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1470C>T (p.Gly490=)2271FHLikely benignrs137969374RCV000866059|RCV001011759; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241661191241661191GA1:g.241661191G>A-
NM_000143.4(FH):c.1469del (p.Gly490fs)2271FHPathogenic/Likely pathogenicrs1060499645RCV000445610|RCV001202946; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661192241661192GCGNC_000001.10:g.241661193delClinGen:CA16609359C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1468G>C (p.Gly490Arg)2271FHUncertain significancers1553340515RCV000549720; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661193241661193CG1:g.241661193C>GClinGen:CA345450517C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1467T>C (p.Leu489=)2271FHLikely benign-1RCV001502752; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661194241661194AG241661194-
NM_000143.4(FH):c.1462G>A (p.Glu488Lys)2271FHConflicting interpretations of pathogenicityrs201115573RCV000226040|RCV000570137|RCV001001725|RCV001550243; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:CN5172021241661199241661199CT1:g.241661199C>TClinGen:CA1478433C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1461C>T (p.Ile487=)2271FHLikely benignrs377091029RCV000534811|RCV001011694; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241661200241661200GA1:g.241661200G>AClinGen:CA1478434C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1461C>A (p.Ile487=)2271FHLikely benign-1RCV002190095; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661200241661200GT241661200-
NM_000143.4(FH):c.1459A>G (p.Ile487Val)2271FHUncertain significance-1RCV001971865; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661202241661202TC241661202-
NM_000143.4(FH):c.1457del (p.Ala486fs)2271FHPathogenic-1RCV001389878; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661204241661204AGA241661203-
NM_000143.4(FH):c.1457C>A (p.Ala486Asp)2271FHPathogenic-1RCV001387328; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661204241661204GT241661204-
NM_000143.4(FH):c.1455T>C (p.Thr485=)2271FHLikely benign-1RCV002078980; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661206241661206AG241661206-
NM_000143.4(FH):c.1447A>C (p.Lys483Gln)2271FHUncertain significancers1017406473RCV000635302|RCV001591415; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241661214241661214TGNC_000001.10:g.241661214T>GClinGen:CA40371654C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1445T>G (p.Leu482Ter)2271FHPathogenic/Likely pathogenicrs1064796708RCV000485484|RCV000524801; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661216241661216AC1:g.241661216A>CClinGen:CA16617112C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1443C>G (p.Thr481=)2271FHConflicting interpretations of pathogenicityrs780200136RCV000326720|RCV000366211|RCV001011606; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241661218241661218GCNC_000001.10:g.241661218G>CClinGen:CA1478436C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1443C>T (p.Thr481=)2271FHLikely benignrs780200136RCV000978336|RCV001396300; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661218241661218GA1:g.241661218G>A-
NM_000143.4(FH):c.1441A>G (p.Thr481Ala)2271FHUncertain significance-1RCV001369193; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661220241661220TC241661220-
NM_000143.4(FH):c.1439C>G (p.Ser480Ter)2271FHPathogenicrs1131691245RCV000493518|RCV001856955; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661222241661222GCNC_000001.10:g.241661222G>CClinGen:CA345450690C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1439C>T (p.Ser480Leu)2271FHUncertain significance-1RCV001976599; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661222241661222GA241661222-
NM_000143.4(FH):c.1430_1437dup (p.Ser480fs)2271FHPathogenicrs863223994RCV000199224|RCV000473392; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661223241661224AATCCATTTT1:g.241661223_241661224insTCCATTTTClinGen:CA323758C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1435G>T (p.Gly479Ter)2271FHPathogenicrs1573876584RCV000814970|RCV001784440; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241661226241661226CA1:g.241661226C>A-
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)2271FHConflicting interpretations of pathogenicityrs367543046RCV000034483|RCV000034921|RCV000164180|RCV001000649|RCV001762110; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241661227241661228AATTT1:g.241661227_241661228insTTTClinGen:CA190246,OMIM:136850.0012C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1434T>C (p.Asn478=)2271FHLikely benignrs786202199RCV000164902|RCV000841286|RCV001088563; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661227241661227AG1:g.241661227A>GClinGen:CA192047C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1434T>A (p.Asn478Lys)2271FHUncertain significancers786202199RCV000801893; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661227241661227AT1:g.241661227A>T-
NM_000143.4(FH):c.1433A>G (p.Asn478Ser)2271FHUncertain significancers201886827RCV000462215; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661228241661228TCNC_000001.10:g.241661228T>CClinGen:CA1478439C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1430A>C (p.Lys477Thr)2271FHUncertain significancers761934894RCV001055008; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661231241661231TG1:g.241661231T>G-
NM_000143.4(FH):c.1429A>G (p.Lys477Glu)2271FHUncertain significancers547519260RCV001205480; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661232241661232TC1:g.241661232T>C-
NM_000143.4(FH):c.1428C>T (p.His476=)2271FHLikely benignrs199887605RCV000163868|RCV000250389|RCV000635322|RCV001721056; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241661233241661233GA1:g.241661233G>AClinGen:CA189389C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1427A>G (p.His476Arg)2271FHUncertain significance-1RCV001957425; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661234241661234TC241661234-
NM_000143.4(FH):c.1426C>T (p.His476Tyr)2271FHUncertain significance-1RCV001911235; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661235241661235GA241661235-
NM_000143.4(FH):c.1422A>T (p.Thr474=)2271FHLikely benignrs1573876607RCV000929544|RCV001412699; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661239241661239TA1:g.241661239T>A-
NM_000143.4(FH):c.1422A>G (p.Thr474=)2271FHLikely benign-1RCV001424434; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661239241661239TC241661239-
NM_000143.4(FH):c.1421C>G (p.Thr474Arg)2271FHConflicting interpretations of pathogenicityrs369802820RCV000034487|RCV000332300|RCV000381370|RCV001011508; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241661240241661240GC1:g.241661240G>CClinGen:CA215566C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1421C>T (p.Thr474Ile)2271FHUncertain significancers369802820RCV000635283|RCV001011509|RCV001766357; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241661240241661240GANC_000001.10:g.241661240G>AClinGen:CA1478441C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1415C>T (p.Ala472Val)2271FHUncertain significancers765643179RCV000819944|RCV001011457|RCV001772135; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241661246241661246GA1:g.241661246G>A-
NM_000143.4(FH):c.1415C>A (p.Ala472Asp)2271FHUncertain significancers765643179RCV001352612; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661246241661246GT241661246-
NM_000143.4(FH):c.1411A>T (p.Ile471Phe)2271FHUncertain significancers1659667519RCV001298927; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661250241661250TA241661250-
NM_000143.4(FH):c.1410G>A (p.Lys470=)2271FHLikely benign-1RCV001433432; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661251241661251CT241661251-
NM_000143.4(FH):c.1408A>G (p.Lys470Glu)2271FHUncertain significancers922905323RCV000550902|RCV001011420; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241661253241661253TCNC_000001.10:g.241661253T>CClinGen:CA40371763C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1405G>A (p.Ala469Thr)2271FHUncertain significancers1060500906RCV000457993; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661256241661256CTNC_000001.10:g.241661256C>TClinGen:CA16610027C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1400dup (p.Ala468fs)2271FHPathogenicrs863223993RCV000200182|RCV001229222; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661260241661261CCTNC_000001.10:g.241661262dupClinGen:CA324743CN517202 not provided;
NM_000143.4(FH):c.1401G>A (p.Lys467=)2271FHLikely benign-1RCV001451022; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661260241661260CT241661260-
NM_000143.4(FH):c.1399A>G (p.Lys467Glu)2271FHUncertain significance-1RCV002027228; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661262241661262TC241661262-
NM_000143.4(FH):c.1398C>G (p.Asp466Glu)2271FHUncertain significancers1558395525RCV000693306; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661263241661263GCNC_000001.10:g.241661263G>C-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)2271FHPathogenic/Likely pathogenicrs863224010RCV000197211|RCV000445635|RCV000706449; NMedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661267241661267TC1:g.241661267T>CClinGen:CA321656C0342770 606812 Fumarase deficiency;
NC_000001.10:g.241661269del2271FHPathogenic-1RCV001385809; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661269241661269ACA241661268-
NM_000143.4(FH):c.1392G>A (p.Gly464=)2271FHLikely benign-1RCV002101527; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661269241661269CT241661269-
NM_000143.4(FH):c.1391G>T (p.Gly464Val)2271FHUncertain significancers1131691250RCV000635296; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661270241661270CA1:g.241661270C>AClinGen:CA345451179C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1391-1_1391delinsTT2271FHPathogenic-1RCV001386619; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661270241661271CCAA241661270-
NM_000143.4(FH):c.1391-1G>C2271FHPathogenicrs863223978RCV000196540|RCV000797525; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661271241661271CG1:g.241661271C>GClinGen:CA320963CN517202 not provided;
NM_000143.4(FH):c.1391-1G>A2271FHPathogenicrs863223978RCV000466829; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661271241661271CTNC_000001.10:g.241661271C>TClinGen:CA16610035C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1391-2A>T2271FHPathogenicrs863224008RCV000198930|RCV000494502|RCV001853179; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661272241661272TANC_000001.10:g.241661272T>AClinGen:CA323468C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1391-2A>G2271FHPathogenicrs863224008RCV001215814|RCV001780135; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241661272241661272TC1:g.241661272T>C-
NM_000143.4(FH):c.1391-4T>C2271FHLikely benignrs760376174RCV000936469; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661274241661274AG1:g.241661274A>G-
NM_000143.4(FH):c.1391-9T>G2271FHLikely benign-1RCV002105226; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661279241661279AC241661279-
NM_000143.4(FH):c.1391-11T>C2271FHLikely benign-1RCV002166962; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661281241661281AG241661281-
NM_000143.4(FH):c.1391-15T>C2271FHLikely benign-1RCV002087832; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661285241661285AG241661285-
NM_000143.4(FH):c.1391-19C>A2271FHLikely benign-1RCV002081685; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661289241661289GT241661289-
NM_000143.4(FH):c.1391-269A>G2271FHConflicting interpretations of pathogenicity-1RCV001553262|RCV002032595; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241661539241661539TC241661539-
NM_000143.4(FH):c.1390+6T>C2271FHUncertain significancers1338650106RCV001203805; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663731241663731AG1:g.241663731A>G-
NM_000143.4(FH):c.1390+6T>A2271FHUncertain significance-1RCV001360945; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663731241663731AT241663731-
NM_000143.4(FH):c.1390+5G>A2271FHUncertain significance-1RCV001373130; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663732241663732CT241663732-
NM_000143.4(FH):c.1390+4A>T2271FHUncertain significance-1RCV001922958; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663733241663733TA241663733-
NM_000143.4(FH):c.1390+2T>C2271FHLikely pathogenicrs1558396285RCV000702821; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663735241663735AGNC_000001.10:g.241663735A>G-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1390+1G>T2271FHPathogenic/Likely pathogenicrs886039367RCV000255853|RCV001011336|RCV001251427; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663736241663736CA1:g.241663736C>AClinGen:CA10588288,OMIM:136850.0013CN517202 not provided;
NM_000143.4(FH):c.1385A>G (p.His462Arg)2271FHUncertain significance-1RCV001988621; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663742241663742TC241663742-
NM_000143.4(FH):c.1384C>T (p.His462Tyr)2271FHUncertain significancers201625211RCV000635290; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663743241663743GA1:g.241663743G>AClinGen:CA40327534C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1379A>G (p.Asn460Ser)2271FHUncertain significancers767253363RCV000536299; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663748241663748TC1:g.241663748T>CClinGen:CA1478469C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs)2271FHPathogenicrs863223992RCV000198336|RCV000471694|RCV000494183; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241663756241663757TTGTGANC_000001.10:g.241663758_241663759insGAGTClinGen:CA322840C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1366G>C (p.Val456Leu)2271FHUncertain significancers200244096RCV000569843|RCV001036638; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663761241663761CG1:g.241663761C>GClinGen:CA40327537C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1362G>A (p.Met454Ile)2271FHUncertain significancers766177929RCV000799539; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663765241663765CT1:g.241663765C>T-
NM_000143.4(FH):c.1361T>C (p.Met454Thr)2271FHUncertain significance-1RCV001367319; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663766241663766AG241663766-
NM_000143.4(FH):c.1359A>G (p.Leu453=)2271FHLikely benign-1RCV002085713; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663768241663768TC241663768-
NM_000143.4(FH):c.1358T>C (p.Leu453Pro)2271FHPathogenic-1RCV001781104|RCV002034591; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663769241663769AG241663769-
NM_000143.4(FH):c.1357C>G (p.Leu453Val)2271FHUncertain significance-1RCV001934862; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663770241663770GC241663770-
NM_000143.4(FH):c.1354T>A (p.Ser452Thr)2271FHUncertain significancers201388169RCV000686337; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663773241663773AT1:g.241663773A>T-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1351G>T (p.Glu451Ter)2271FHPathogenicrs1558396320RCV000698371|RCV001784332; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241663776241663776CANC_000001.10:g.241663776C>A-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1348A>G (p.Asn450Asp)2271FHUncertain significancers1659742832RCV001050421; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663779241663779TC1:g.241663779T>C-
NM_000143.4(FH):c.1348A>C (p.Asn450His)2271FHUncertain significance-1RCV001925883; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663779241663779TG241663779-
NM_000143.4(FH):c.1347del (p.Met449fs)2271FHPathogenicrs1060500903RCV000465683; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663780241663780TCTNC_000001.10:g.241663780delClinGen:CA16610100C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1347G>C (p.Met449Ile)2271FHUncertain significancers376502356RCV001301673; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663780241663780CG241663780-
NM_000143.4(FH):c.1342C>T (p.Leu448=)2271FHLikely benign-1RCV001446167; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663785241663785GA241663785-
NM_000143.4(FH):c.1341G>A (p.Lys447=)2271FHLikely benignrs748363858RCV000871502|RCV002064674; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663786241663786CT1:g.241663786C>T-
NM_000143.4(FH):c.1340A>G (p.Lys447Arg)2271FHUncertain significance-1RCV001362377; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663787241663787TC241663787-
NM_000143.4(FH):c.1339A>T (p.Lys447Ter)2271FHPathogenicrs863223977RCV000493806|RCV000810856; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663788241663788TA1:g.241663788T>AClinGen:CA324795C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1338C>T (p.Asn446=)2271FHLikely benign-1RCV001496706; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663789241663789GA241663789-
NM_000143.4(FH):c.1338C>G (p.Asn446Lys)2271FHUncertain significance-1RCV002038051; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663789241663789GC241663789-
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs)2271FHPathogenicrs1553340686RCV000478909|RCV000799222; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663790241663791TTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCNC_000001.10:g.241663791_241663833dupClinGen:CA16617114CN517202 not provided;
NM_000143.4(FH):c.1337A>G (p.Asn446Ser)2271FHUncertain significance-1RCV001886064; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663790241663790TC241663790-
NM_000143.4(FH):c.1328_1331dup (p.Ile445fs)2271FHPathogenicrs1573878004RCV000819922; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663795241663796CCCTTT1:g.241663795_241663796insCTTT-
NM_000143.4(FH):c.1330A>G (p.Arg444Gly)2271FHUncertain significancers749266351RCV000695735; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663797241663797TCNC_000001.10:g.241663797T>C-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1330A>C (p.Arg444=)2271FHLikely benignrs749266351RCV000931969|RCV001408310; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663797241663797TG1:g.241663797T>G-
NM_000143.4(FH):c.1327G>T (p.Glu443Ter)2271FHPathogenicrs1553340687RCV000792011|RCV001781573; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241663800241663800CA1:g.241663800C>A-
NM_000143.4(FH):c.1326A>G (p.Thr442=)2271FHLikely benign-1RCV001468709; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663801241663801TC241663801-
NM_000143.4(FH):c.1325C>G (p.Thr442Arg)2271FHUncertain significancers1060500899RCV000470446; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663802241663802GCNC_000001.10:g.241663802G>CClinGen:CA16610101C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1324A>G (p.Thr442Ala)2271FHUncertain significancers771503401RCV001056986; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663803241663803TC1:g.241663803T>C-
NM_000143.4(FH):c.1323T>A (p.Asn441Lys)2271FHUncertain significance-1RCV001988769; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663804241663804AT241663804-
NM_000143.4(FH):c.1322A>G (p.Asn441Ser)2271FHUncertain significancers1357584529RCV000635319; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663805241663805TCNC_000001.10:g.241663805T>CClinGen:CA345436593C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1314C>T (p.Ile438=)2271FHLikely benignrs140873869RCV000471892|RCV000570892|RCV001577054; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241663813241663813GANC_000001.10:g.241663813G>AClinGen:CA1478480C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1310del (p.Gly437fs)2271FHPathogenic-1RCV001915444; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663817241663817TCT241663816-
NM_000143.4(FH):c.1308G>A (p.Val436=)2271FHLikely benignrs201535626RCV000466149|RCV001653838; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241663819241663819CTNC_000001.10:g.241663819C>TClinGen:CA1478481C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1306G>T (p.Val436Leu)2271FHUncertain significancers1324526971RCV000635310; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663821241663821CANC_000001.10:g.241663821C>AClinGen:CA345436664C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1305G>A (p.Val435=)2271FHLikely benignrs772415507RCV000610310|RCV001459908; NMedGen:CN169374|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663822241663822CT1:g.241663822C>TClinGen:CA424075503CN169374 not specified;
NM_000143.4(FH):c.1305G>T (p.Val435=)2271FHLikely benign-1RCV001471904; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663822241663822CA241663822-
NM_000143.4(FH):c.1304T>C (p.Val435Ala)2271FHUncertain significance-1RCV002031945; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663823241663823AG241663823-
NM_000143.4(FH):c.1303G>A (p.Val435Met)2271FHUncertain significancers147528200RCV000121094|RCV000473170|RCV000571469|RCV001564388; NMedGen:CN169374|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241663824241663824CT1:g.241663824C>TClinGen:CA159749C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1302C>T (p.Cys434=)2271FHBenignrs2070080RCV000125104|RCV000163275|RCV000292482|RCV000338010|RCV000589909; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241663825241663825GA1:g.241663825G>AClinGen:CA187893C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)2271FHConflicting interpretations of pathogenicityrs398123164RCV000078146|RCV000234386|RCV000492797; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241663826241663826CT1:g.241663826C>TClinGen:CA285326C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1300T>C (p.Cys434Arg)2271FHUncertain significancers1659745968RCV001226525; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663827241663827AG1:g.241663827A>G-
NM_000143.4(FH):c.1299C>T (p.Asn433=)2271FHBenign/Likely benignrs201994824RCV000868750|RCV001010585|RCV001593084; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241663828241663828GA1:g.241663828G>A-
NM_000143.4(FH):c.1297A>T (p.Asn433Tyr)2271FHUncertain significance-1RCV001903143; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663830241663830TA241663830-
NM_000143.4(FH):c.1293del (p.Glu432fs)2271FHPathogenicrs398123163RCV000078145|RCV000461548|RCV000445588|RCV000493624; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241663834241663834CTC1:g.241663834_241663834delClinGen:CA285325C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1293A>G (p.Thr431=)2271FHLikely benignrs772800627RCV000575728|RCV001421518; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663834241663834TC1:g.241663834T>CClinGen:CA1478484C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1292C>T (p.Thr431Ile)2271FHUncertain significancers201005880RCV000543314|RCV001010798|RCV001098856; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241663835241663835GA1:g.241663835G>AClinGen:CA40327543C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1291A>G (p.Thr431Ala)2271FHUncertain significancers1315943292RCV001237154; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663836241663836TC1:g.241663836T>C-
NM_000143.4(FH):c.1287del (p.Phe430fs)2271FHPathogenicrs1659746788RCV001224023; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663840241663840AGA1:g.241663840_241663840del-
NM_000143.4(FH):c.1287C>T (p.Ser429=)2271FHLikely benign-1RCV002218589; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663840241663840GA241663840-
NM_000143.4(FH):c.1286C>G (p.Ser429Cys)2271FHUncertain significancers1558396375RCV000706141; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663841241663841GCNC_000001.10:g.241663841G>C-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1283T>C (p.Val428Ala)2271FHLikely benign-1RCV002193802; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663844241663844AG241663844-
NM_000143.4(FH):c.1282G>C (p.Val428Leu)2271FHUncertain significancers1558396381RCV000705052; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663845241663845CGNC_000001.10:g.241663845C>G-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1280del (p.Ala426_Ser427insTer)2271FHPathogenic-1RCV001383078; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663847241663847TGT241663846-
NM_000143.4(FH):c.1277C>A (p.Ala426Asp)2271FHUncertain significancers1553340703RCV000558203; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663850241663850GT1:g.241663850G>TClinGen:CA345436795C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1270G>A (p.Gly424Arg)2271FHUncertain significancers1553340705RCV000635297; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663857241663857CT1:g.241663857C>TClinGen:CA345436828C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1269G>A (p.Leu423=)2271FHLikely benign-1RCV001474256; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663858241663858CT241663858-
NM_000143.4(FH):c.1268T>G (p.Leu423Arg)2271FHConflicting interpretations of pathogenicityrs863224009RCV000196004|RCV001010667|RCV001853180; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663859241663859AC1:g.241663859A>CClinGen:CA320395CN517202 not provided;
NM_000143.4(FH):c.1263G>T (p.Arg421Ser)2271FHUncertain significancers777409218RCV001070737; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663864241663864CA1:g.241663864C>A-
NM_000143.4(FH):c.1259_1262dup (p.Arg421fs)2271FHPathogenic-1RCV001386069; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663864241663865CCCTGG241663864-
NM_000143.4(FH):c.1263G>C (p.Arg421Ser)2271FHUncertain significance-1RCV001984412; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663864241663864CG241663864-
NM_000143.4(FH):c.1262G>C (p.Arg421Thr)2271FHUncertain significancers1659747962RCV001062135; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663865241663865CG1:g.241663865C>G-
NM_000143.4(FH):c.1262G>T (p.Arg421Met)2271FHUncertain significancers1659747962RCV001222615; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663865241663865CA1:g.241663865C>A-
NM_000143.4(FH):c.1261A>G (p.Arg421Gly)2271FHUncertain significancers1659748055RCV001345539; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663866241663866TC241663866-
NM_000143.4(FH):c.1259C>T (p.Ala420Val)2271FHUncertain significancers766377516RCV001305118; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663868241663868GA241663868-
NM_000143.4(FH):c.1259C>A (p.Ala420Asp)2271FHUncertain significancers766377516RCV001318969; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663868241663868GT241663868-
NM_000143.4(FH):c.1256C>T (p.Ser419Leu)2271FHConflicting interpretations of pathogenicityrs1131691244RCV000494270|RCV000635292; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663871241663871GA1:g.241663871G>AClinGen:CA345436872C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)2271FHPathogenic/Likely pathogenicrs200004220RCV000078144|RCV000445624|RCV000461249|RCV000492881; NMedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241663872241663872AG1:g.241663872A>GClinGen:CA285322C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1254C>T (p.His418=)2271FHLikely benign-1RCV001436971; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663873241663873GA241663873-
NM_000143.4(FH):c.1251dup (p.His418fs)2271FHPathogenicrs1553340708RCV000543359; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663875241663876GGT1:g.241663875_241663876insTClinGen:CA658656998C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1249T>C (p.Leu417=)2271FHLikely benign-1RCV001453898; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663878241663878AG241663878-
NM_000143.4(FH):c.1248G>A (p.Val416=)2271FHLikely benign-1RCV001416801; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663879241663879CT241663879-
NM_000143.4(FH):c.1247del (p.Val416fs)2271FHPathogenic-1RCV001958572; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663880241663880CAC241663879-
NM_000143.4(FH):c.1243A>C (p.Asn415His)2271FHUncertain significance-1RCV002038853; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663884241663884TG241663884-
NM_000143.4(FH):c.1241A>G (p.Lys414Arg)2271FHUncertain significance-1RCV001886173; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663886241663886TC241663886-
NM_000143.4(FH):c.1240A>T (p.Lys414Ter)2271FHPathogenicrs1573878145RCV001010521|RCV001860640; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663887241663887TA1:g.241663887T>A-
NM_000143.4(FH):c.1240A>G (p.Lys414Glu)2271FHUncertain significancers1573878145RCV001305441; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663887241663887TC241663887-
NM_000143.4(FH):c.1237-1G>T2271FHLikely pathogenicrs1573878149RCV001010486|RCV001231127; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663891241663891CA1:g.241663891C>A-
NM_000143.4(FH):c.1237-15CTCA[4]2271FHLikely benignrs750898743RCV000472429; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663893241663894TTTGAGNC_000001.10:g.241663894TGAG[4]ClinGen:CA1478487C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-3A>T2271FHUncertain significance-1RCV001920525; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663893241663893TA241663893-
NM_000143.4(FH):c.1237-3A>G2271FHUncertain significance-1RCV002000844; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663893241663893TC241663893-
NM_000143.4(FH):c.1237-5_1237-4insCTCT2271FHUncertain significancers886046316RCV000334499|RCV000401775; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241663894241663895TTGAGANC_000001.10:g.241663896AG[3]ClinGen:CA10610741C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-15CTCA[2]2271FHLikely benignrs750898743RCV000934110; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663894241663897TTGAGT1:g.241663894_241663897del-
NM_000143.4(FH):c.1237-4A>C2271FHLikely benign-1RCV001399512; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663894241663894TG241663894-
NM_000143.4(FH):c.1237-5C>T2271FHLikely benignrs200926050RCV000462458; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663895241663895GANC_000001.10:g.241663895G>AClinGen:CA16610039C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-5C>G2271FHUncertain significancers200926050RCV000803612; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663895241663895GC1:g.241663895G>C-
NM_000143.4(FH):c.1237-14_1237-5del2271FHLikely benign-1RCV001461280; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663895241663904TGAGTGAGTGAT241663894-
NM_000143.4(FH):c.1237-7C>T2271FHConflicting interpretations of pathogenicityrs376260223RCV000485230|RCV001084787; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663897241663897GA1:g.241663897G>AClinGen:CA1478491C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-14_1237-9dup2271FHBenign/Likely benignrs779985493RCV000231245|RCV000310725|RCV001818563; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN1693741241663898241663899TTGAGTGA1:g.241663898_241663899insGAGTGAClinGen:CA1478492C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-9_1237-8insCTCTCT2271FHConflicting interpretations of pathogenicityrs1553340717RCV000358740|RCV000399875; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241663898241663899TTGAGAGANC_000001.10:g.241663900AG[4]ClinGen:CA10609920C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-10_1237-9dup2271FHLikely benignrs1553340717RCV000476900; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663898241663899TTGANC_000001.10:g.241663900_241663901dupClinGen:CA1478493C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-9_1237-8insCTCT2271FHLikely benignrs1553340717RCV000870636; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663898241663899TTGAGA1:g.241663898_241663899insGAGA-
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCTCT2271FHLikely benignrs1553340717RCV000954570|RCV001404596; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663898241663899TTGAGAGAGAGAGAGAGA1:g.241663898_241663899insGAGAGAGAGAGAGAGA-
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCTCTCT2271FHLikely benign-1RCV001411167; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663898241663899TTGAGAGAGAGAGAGAGAGA241663898-
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCT2271FHLikely benign-1RCV001498183; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663898241663899TTGAGAGAGAGAGAGA241663898-
NM_000143.4(FH):c.1237-16_1237-9dup2271FHLikely benign-1RCV002212324; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663898241663899TTGAGTGAGA241663898-
NM_000143.4(FH):c.1237-9C>T2271FHLikely benignrs767413280RCV000456815|RCV001704566; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241663899241663899GANC_000001.10:g.241663899G>AClinGen:CA1478495C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-10T>C2271FHLikely benign-1RCV002214896; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663900241663900AG241663900-
NM_000143.4(FH):c.1237-50TC[23]2271FHConflicting interpretations of pathogenicityrs144131869RCV000339845|RCV000399956|RCV001579340|RCV001701843; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN517202|MedGen:CN1693741241663902241663903TTGAGAGAGANC_000001.10:g.241663903GA[23]ClinGen:CA10609670C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-12A>T2271FHConflicting interpretations of pathogenicityrs74405673RCV000270742|RCV000325826|RCV001711881; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241663902241663902TANC_000001.10:g.241663902T>AClinGen:CA10609921C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[25]2271FHUncertain significancers144131869RCV000313248|RCV000367974|RCV001795915; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241663902241663903TTGAGAGAGAGAGANC_000001.10:g.241663903GA[25]ClinGen:CA10609926C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[22]2271FHConflicting interpretations of pathogenicityrs144131869RCV000343423|RCV000398241|RCV001711882|RCV001820852; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN517202|MedGen:CN1693741241663902241663903TTGAGAGANC_000001.10:g.241663903GA[22]ClinGen:CA10610820C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[24]2271FHConflicting interpretations of pathogenicityrs144131869RCV000362365|RCV000390052|RCV001538757; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241663902241663903TTGAGAGAGAGANC_000001.10:g.241663903GA[24]ClinGen:CA10610821C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[18]2271FHUncertain significancers144131869RCV000260799|RCV000355616|RCV001579647; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241663903241663904TGATNC_000001.10:g.241663903GA[18]ClinGen:CA10609925C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[20]2271FHConflicting interpretations of pathogenicityrs144131869RCV000276737|RCV000386377|RCV000456048|RCV001636853; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN169374|MedGen:CN5172021241663903241663904TTGANC_000001.10:g.241663903GA[20]ClinGen:CA10610742C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[17]2271FHUncertain significancers144131869RCV000266800|RCV000315902; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241663903241663906TGAGATNC_000001.10:g.241663903GA[17]ClinGen:CA10610744C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[21]2271FHConflicting interpretations of pathogenicityrs144131869RCV000282143|RCV000373250|RCV000455309|RCV001618510; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN169374|MedGen:CN5172021241663903241663906TTGAGANC_000001.10:g.241663903GA[21]ClinGen:CA10610745C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1236+16G>C2271FHLikely benign-1RCV002149235; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665727241665727CG241665727-
NM_000143.4(FH):c.1236+14C>T2271FHBenign/Likely benignrs149241949RCV000125103|RCV000321851|RCV000376619|RCV000586848; NMedGen:CN169374|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241665729241665729GA1:g.241665729G>AClinGen:CA290930C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1236+14C>A2271FHLikely benign-1RCV002202128; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665729241665729GT241665729-
NC_000001.10:g.(?_241665733)_(241667555_?)del2271FHPathogenic-1RCV001951075; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665733241667555nana-1-
NM_000143.4(FH):c.1236+5G>A2271FHUncertain significance-1RCV001937525; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665738241665738CT241665738-
NM_000143.4(FH):c.1236+1G>C2271FHPathogenicrs1131691249RCV000493187|RCV000804854; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665742241665742CG1:g.241665742C>GClinGen:CA345437205C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1236+1G>A2271FHPathogenicrs1131691249RCV000635306; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665742241665742CT1:g.241665742C>TClinGen:CA345437207C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1236G>A (p.Met412Ile)2271FHUncertain significancers1573879248RCV000812764; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665743241665743CT1:g.241665743C>T-
NM_000143.4(FH):c.1231A>G (p.Met411Val)2271FHUncertain significancers201381362RCV000820725|RCV001010457; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241665748241665748TC1:g.241665748T>C-
NM_000143.4(FH):c.1229C>T (p.Pro410Leu)2271FHUncertain significancers1057517735RCV000412803|RCV001850981; NMedGen:CN169374|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665750241665750GA1:g.241665750G>AClinGen:CA16042326CN169374 not specified;
NM_000143.4(FH):c.1229C>G (p.Pro410Arg)2271FHUncertain significancers1057517735RCV001064326; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665750241665750GC1:g.241665750G>C-
NM_000143.4(FH):c.1228C>T (p.Pro410Ser)2271FHUncertain significance-1RCV001897860; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665751241665751GA241665751-
NM_000143.4(FH):c.1227G>A (p.Lys409=)2271FHLikely benignrs774493741RCV001010436|RCV001459811; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665752241665752CT1:g.241665752C>T-
NM_000143.4(FH):c.1227G>C (p.Lys409Asn)2271FHUncertain significancers774493741RCV001044168; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665752241665752CG1:g.241665752C>G-
NM_000143.4(FH):c.1216A>G (p.Asn406Asp)2271FHUncertain significancers876659362RCV000216325|RCV001048777; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665763241665763TC1:g.241665763T>CClinGen:CA10577683C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1212G>A (p.Glu404=)2271FHLikely benignrs752558644RCV000980692|RCV001408336; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665767241665767CT1:g.241665767C>T-
NM_000143.4(FH):c.1210G>T (p.Glu404Ter)2271FHPathogenicrs797044974RCV000192733|RCV001219757|RCV001579461; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241665769241665769CANC_000001.10:g.241665769C>AClinGen:CA347361C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1209del (p.Phe403fs)2271FHPathogenicrs1060499644RCV000445613|RCV001010289|RCV001851115; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665770241665770CACNC_000001.10:g.241665773delClinGen:CA16609361C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1205A>G (p.His402Arg)2271FHConflicting interpretations of pathogenicityrs886039366RCV000255487|RCV000533307; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665774241665774TC1:g.241665774T>CClinGen:CA10588289C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1205del (p.His402fs)2271FHPathogenicrs1558397011RCV000702019; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665774241665774ATANC_000001.10:g.241665774del-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1205A>T (p.His402Leu)2271FHLikely pathogenic-1RCV001379716; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665774241665774TA241665774-
NM_000143.4(FH):c.1204C>T (p.His402Tyr)2271FHUncertain significancers760360724RCV000698203; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665775241665775GA1:g.241665775G>A-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1202G>A (p.Gly401Glu)2271FHConflicting interpretations of pathogenicityrs1573879289RCV001010204|RCV001860631; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665777241665777CT1:g.241665777C>T-
NM_000143.4(FH):c.1200T>G (p.Asn400Lys)2271FHUncertain significancers1659805291RCV001349330; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665779241665779AC241665779-
NM_000143.4(FH):c.1200T>C (p.Asn400=)2271FHLikely benign-1RCV002141602; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665779241665779AG241665779-
NM_000143.4(FH):c.1199A>G (p.Asn400Ser)2271FHUncertain significancers764430466RCV000568126|RCV001223310; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665780241665780TC1:g.241665780T>CClinGen:CA1478531C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1197C>T (p.Ser399=)2271FHLikely benign-1RCV001425203; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665782241665782GA241665782-
NM_000143.4(FH):c.1196G>A (p.Ser399Asn)2271FHUncertain significancers1659805662RCV001067114; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665783241665783CT1:g.241665783C>T-
NM_000143.4(FH):c.1195A>G (p.Ser399Gly)2271FHUncertain significancers1372936109RCV000686986; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665784241665784TCNC_000001.10:g.241665784T>C-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1194C>T (p.Gly398=)2271FHUncertain significancers1659805814RCV001041138; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665785241665785GA1:g.241665785G>A-
NM_000143.4(FH):c.1194C>A (p.Gly398=)2271FHLikely benign-1RCV002151180; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665785241665785GT241665785-
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)2271FHPathogenicrs863224007RCV000200752|RCV000465210|RCV000445595; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241665790241665790CTNC_000001.10:g.241665790C>TClinGen:CA325330C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1188C>T (p.Val396=)2271FHLikely benign-1RCV001421543; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665791241665791GA241665791-
NM_000143.4(FH):c.1187T>G (p.Val396Gly)2271FHUncertain significance-1RCV001979602; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665792241665792AC241665792-
NM_000143.4(FH):c.1186G>C (p.Val396Leu)2271FHUncertain significance-1RCV001908143; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665793241665793CG241665793-
NM_000143.4(FH):c.1184C>T (p.Thr395Ile)2271FHUncertain significancers878853690RCV000228405; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665795241665795GA1:g.241665795G>AClinGen:CA10581782C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1176_1181del (p.Ala393_Val394del)2271FHUncertain significancers1659806431RCV001309006; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665798241665803GACAGCAG241665797-
NM_000143.4(FH):c.1177G>C (p.Ala393Pro)2271FHUncertain significance-1RCV001370286; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665802241665802CG241665802-
NM_000143.4(FH):c.1165_1174del (p.Gly389fs)2271FHPathogenicrs1573879313RCV000810743; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665805241665814ACATGGTTCCCA1:g.241665805_241665814del-
NM_000143.4(FH):c.1173T>C (p.His391=)2271FHLikely benignrs199638673RCV000930706; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665806241665806AG1:g.241665806A>G-
NM_000143.4(FH):c.1172A>C (p.His391Pro)2271FHUncertain significancers1659806824RCV001202185; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665807241665807TG1:g.241665807T>G-
NM_000143.4(FH):c.1172A>G (p.His391Arg)2271FHUncertain significance-1RCV001929114; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665807241665807TC241665807-
NM_000143.4(FH):c.1170C>G (p.Asn390Lys)2271FHUncertain significancers1659806898RCV001338026; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665809241665809GC241665809-
NM_000143.4(FH):c.1169A>G (p.Asn390Ser)2271FHLikely pathogenicrs1178007598RCV001072142; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665810241665810TC1:g.241665810T>C-
NM_000143.4(FH):c.1167G>A (p.Gly389=)2271FHLikely benign-1RCV001412580; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665812241665812CT241665812-
NM_000143.4(FH):c.1163T>C (p.Met388Thr)2271FHUncertain significancers876660830RCV000219659|RCV000695731|RCV001762501; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241665816241665816AG1:g.241665816A>GClinGen:CA10577684C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1163T>G (p.Met388Arg)2271FHUncertain significance-1RCV001904130; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665816241665816AC241665816-
NM_000143.4(FH):c.1162A>G (p.Met388Val)2271FHUncertain significancers1573879331RCV001010056|RCV001241972; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665817241665817TC1:g.241665817T>C-
NM_000143.4(FH):c.1158_1160del (p.Gln386_Val387delinsHis)2271FHLikely pathogenicrs1659807516RCV001197942; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665819241665821GACTG1:g.241665819_241665821del-
NM_000143.4(FH):c.1158A>C (p.Gln386His)2271FHLikely pathogenic-1RCV001993719; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665821241665821TG241665821-
NM_000143.4(FH):c.1157A>G (p.Gln386Arg)2271FHPathogenic/Likely pathogenicrs750447792RCV000469317|RCV000562894|RCV001551727; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241665822241665822TCNC_000001.10:g.241665822T>CClinGen:CA16610070C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1156C>G (p.Gln386Glu)2271FHUncertain significance-1RCV002044674; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665823241665823GC241665823-
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)2271FHConflicting interpretations of pathogenicityrs727503926RCV000153234|RCV000217529|RCV000445620|RCV001058206; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665825241665825GT1:g.241665825G>TClinGen:CA295616C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1152A>C (p.Ala384=)2271FHLikely benign-1RCV001456130; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665827241665827TG241665827-
NM_000143.4(FH):c.1151C>T (p.Ala384Val)2271FHUncertain significancers904463039RCV000799354; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665828241665828GA1:g.241665828G>A-
NM_000143.4(FH):c.1149T>G (p.Val383=)2271FHLikely benign-1RCV001433031; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665830241665830AC241665830-
NM_000143.4(FH):c.1147G>C (p.Val383Leu)2271FHUncertain significance-1RCV001899374; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665832241665832CG241665832-
NM_000143.4(FH):c.1145T>C (p.Met382Thr)2271FHLikely pathogenic-1RCV001961450; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665834241665834AG241665834-
NM_000143.4(FH):c.1144A>G (p.Met382Val)2271FHConflicting interpretations of pathogenicityrs886039365RCV000254948|RCV000492991|RCV000689467; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665835241665835TC1:g.241665835T>CClinGen:CA10588290C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1138dup (p.Met380fs)2271FHPathogenicrs781466938RCV000445607|RCV000688524|RCV001782910; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241665840241665841AAT1:g.241665840_241665841insTClinGen:CA1478537C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1138A>G (p.Met380Val)2271FHUncertain significancers587778362RCV000121093|RCV000554866|RCV000567053; NMedGen:CN169374|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241665841241665841TC1:g.241665841T>CClinGen:CA159746C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1138del (p.Ala379_Met380insTer)2271FHPathogenicrs781466938RCV000693361|RCV001784319; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241665841241665841ATA1:g.241665841_241665841del-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1136C>A (p.Ala379Glu)2271FHUncertain significance-1RCV002008542; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665843241665843GT241665843-
NM_000143.4(FH):c.1130G>A (p.Cys377Tyr)2271FHUncertain significancers1553340880RCV000635286; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665849241665849CT1:g.241665849C>TClinGen:CA345437584C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1128G>T (p.Gln376His)2271FHUncertain significancers1467002768RCV001017415|RCV001860864; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665851241665851CA1:g.241665851C>A-
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)2271FHConflicting interpretations of pathogenicityrs200796606RCV000034920|RCV000163798|RCV000199873|RCV001762109; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241665852241665852TG1:g.241665852T>GClinGen:CA189211C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1124C>T (p.Thr375Ile)2271FHUncertain significancers1659809804RCV001320008|RCV001780246; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241665855241665855GA241665855-
NM_000143.4(FH):c.1123A>G (p.Thr375Ala)2271FHUncertain significancers1573879366RCV000796890; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665856241665856TC1:g.241665856T>C-
NM_000143.4(FH):c.1117_1119del (p.Asn373del)2271FHUncertain significancers1553340884RCV000529968; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665860241665862GGTTGNC_000001.10:g.241665860_241665862delClinGen:CA658656999C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1119C>T (p.Asn373=)2271FHLikely benignrs542014575RCV000635323; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665860241665860GA1:g.241665860G>AClinGen:CA1478538C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1119C>A (p.Asn373Lys)2271FHUncertain significancers542014575RCV001225125; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665860241665860GT1:g.241665860G>T-
NM_000143.4(FH):c.1118A>G (p.Asn373Ser)2271FHConflicting interpretations of pathogenicityrs1060499643RCV000445626|RCV000806780; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665861241665861TCNC_000001.10:g.241665861T>CClinGen:CA16609362C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1118A>T (p.Asn373Ile)2271FHUncertain significancers1060499643RCV000701529; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665861241665861TANC_000001.10:g.241665861T>A-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1112del (p.Lys371fs)2271FHPathogenicrs1060500904RCV000477222|RCV001782934; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241665867241665867CTCNC_000001.10:g.241665868delClinGen:CA16610045C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1109G>A (p.Gly370Asp)2271FHUncertain significancers1553340894RCV000635291; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665870241665870CT1:g.241665870C>TClinGen:CA345437719C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1109-1G>C2271FHLikely pathogenicrs1298313966RCV001209726; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665871241665871CG1:g.241665871C>G-
NM_000143.4(FH):c.1109-3A>G2271FHUncertain significancers1659810726RCV001204288; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665873241665873TC1:g.241665873T>C-
NM_000143.4(FH):c.1109-4G>A2271FHLikely benign-1RCV001395664; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665874241665874CT241665874-
NM_000143.4(FH):c.1109-7C>T2271FHConflicting interpretations of pathogenicityrs1060504079RCV000476829|RCV001100670; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241665877241665877GANC_000001.10:g.241665877G>AClinGen:CA16610073C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1109-15G>T2271FHLikely benign-1RCV002142230; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665885241665885CA241665885-
NM_000143.4(FH):c.1109-15G>A2271FHLikely benign-1RCV002094852; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665885241665885CT241665885-
NM_000143.4(FH):c.1109-19A>G2271FHLikely benign-1RCV002122502; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665889241665889TC241665889-
NM_000143.4(FH):c.1109-20C>T2271FHLikely benign-1RCV002139165; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241665890241665890GA241665890-
NM_000143.4(FH):c.1108+18A>G2271FHLikely benign-1RCV002203004; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667324241667324TC241667324-
NM_000143.4(FH):c.1108+10T>C2271FHLikely benignrs201513242RCV000884114|RCV001406420; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667332241667332AG1:g.241667332A>G-
NM_000143.4(FH):c.1108+10T>A2271FHLikely benign-1RCV002193654; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667332241667332AT241667332-
NM_000143.4(FH):c.1108+7A>G2271FHLikely benign-1RCV001397552; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667335241667335TC241667335-
NM_000143.4(FH):c.1108+1G>T2271FHPathogenic/Likely pathogenicrs1057517734RCV000414171|RCV000556340|RCV001017339; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241667341241667341CA1:g.241667341C>AClinGen:CA16042358C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1108+1G>A2271FHPathogenicrs1057517734RCV001215802; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667341241667341CT1:g.241667341C>T-
NM_000143.4(FH):c.1108G>C (p.Gly370Arg)2271FHUncertain significancers1659848371RCV001340676; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667342241667342CG241667342-
NM_000143.4(FH):c.1097G>A (p.Ser366Asn)2271FHPathogenic/Likely pathogenicrs863224004RCV000200592|RCV000234564|RCV001017278; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241667353241667353CT1:g.241667353C>TClinGen:CA325181C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1094G>A (p.Ser365Asn)2271FHLikely pathogenicrs1131691238RCV000493020|RCV001065908; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667356241667356CTNC_000001.10:g.241667356C>TClinGen:CA345437940C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)2271FHPathogenicrs863223966RCV000196179|RCV000220270|RCV000445606|RCV000699219; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667357241667357TCNC_000001.10:g.241667357T>CClinGen:CA320604C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1092A>G (p.Gly364=)2271FHLikely benignrs1361977903RCV000924866|RCV001399306; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667358241667358TC1:g.241667358T>C-
NM_000143.4(FH):c.1088C>G (p.Pro363Arg)2271FHUncertain significancers1483975363RCV000798094; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667362241667362GC1:g.241667362G>C-
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)2271FHPathogenicrs756469140RCV000196197|RCV000445586|RCV000470614|RCV000493004; NMedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241667364241667367GTTCAG1:g.241667364_241667367delClinGen:CA320623C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1086A>G (p.Glu362=)2271FHLikely benignrs1553341008RCV000635330; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667364241667364TC1:g.241667364T>CClinGen:CA424075743C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1084G>C (p.Glu362Gln)2271FHPathogenicrs121913119RCV000017618|RCV001781271; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667366241667366CG1:g.241667366C>GClinGen:CA257453,OMIM:136850.0002C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1084G>A (p.Glu362Lys)2271FHLikely pathogenicrs121913119RCV001046230; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667366241667366CT1:g.241667366C>T-
NM_000143.4(FH):c.1083T>G (p.Asn361Lys)2271FHUncertain significancers1659849280RCV001337332; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667367241667367AC241667367-
NM_000143.4(FH):c.1082del (p.Asn361fs)2271FHPathogenicrs1553341012RCV000635303|RCV001784210; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667368241667368ATA1:g.241667368_241667368delClinGen:CA658795652C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1077T>A (p.Pro359=)2271FHBenign/Likely benignrs750535216RCV000541494|RCV000562083|RCV001312139; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241667373241667373AT1:g.241667373A>TClinGen:CA1478552C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1072T>C (p.Leu358=)2271FHLikely benignrs918902822RCV000460240; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667378241667378AGNC_000001.10:g.241667378A>GClinGen:CA16610037C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1071C>G (p.Ile357Met)2271FHUncertain significancers1391140770RCV001295885; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667379241667379GC241667379-
NM_000143.4(FH):c.1071C>A (p.Ile357=)2271FHLikely benign-1RCV002124019; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667379241667379GT241667379-
NM_000143.4(FH):c.1071C>T (p.Ile357=)2271FHLikely benign-1RCV002178265; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667379241667379GA241667379-
NM_000143.4(FH):c.1070T>C (p.Ile357Thr)2271FHUncertain significancers1388251431RCV001017201|RCV001273816; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667380241667380AG1:g.241667380A>G-
NM_000143.4(FH):c.1069A>G (p.Ile357Val)2271FHUncertain significancers1027877625RCV001280070; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667381241667381TC1:g.241667381T>C-
NM_000143.4(FH):c.1068_1069delinsAC (p.Ile357Leu)2271FHUncertain significance-1RCV001893114; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667381241667382TCGT241667381-
NM_000143.4(FH):c.1066T>C (p.Leu356=)2271FHLikely benignrs1157405003RCV000635326; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667384241667384AG1:g.241667384A>GClinGen:CA424075751C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1063G>T (p.Glu355Ter)2271FHPathogenicrs1060499642RCV000445617|RCV000812408|RCV001782909; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667387241667387CANC_000001.10:g.241667387C>AClinGen:CA16609363C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1056T>C (p.Gly352=)2271FHLikely benignrs758440879RCV000867804; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667394241667394AG1:g.241667394A>G-
NM_000143.4(FH):c.1055G>A (p.Gly352Asp)2271FHUncertain significancers1659850534RCV001317402; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667395241667395CT241667395-
NM_000143.4(FH):c.1052C>A (p.Ser351Ter)2271FHPathogenicrs1060500896RCV000459166|RCV001782931; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667398241667398GTNC_000001.10:g.241667398G>TClinGen:CA16610049C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1052C>G (p.Ser351Ter)2271FHPathogenicrs1060500896RCV000494465|RCV000694333|RCV001782982; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667398241667398GCNC_000001.10:g.241667398G>CClinGen:CA345438126C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1051T>G (p.Ser351Ala)2271FHUncertain significancers766918221RCV000809220; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667399241667399AC1:g.241667399A>C-
NM_000143.4(FH):c.1051T>A (p.Ser351Thr)2271FHUncertain significancers766918221RCV001051749; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667399241667399AT1:g.241667399A>T-
NM_000143.4(FH):c.1049G>A (p.Arg350Gln)2271FHUncertain significancers749316923RCV000567804|RCV000635318|RCV000994324; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667401241667401CT1:g.241667401C>TClinGen:CA1478555C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)2271FHConflicting interpretations of pathogenicityrs755436052RCV000198662|RCV000696839|RCV001100941; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241667402241667402GANC_000001.10:g.241667402G>AClinGen:CA323206C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1046C>G (p.Pro349Arg)2271FHUncertain significancers1553341017RCV000572030|RCV001208085; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667404241667404GC1:g.241667404G>CClinGen:CA345438145C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1041del (p.Gly348fs)2271FHPathogenicrs1060499641RCV000445598|RCV000575212|RCV000692002|RCV001782908; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667409241667409CACNC_000001.10:g.241667409delClinGen:CA16609364C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1041T>C (p.Ser347=)2271FHLikely benign-1RCV001462638; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667409241667409AG241667409-
NM_000143.4(FH):c.1040C>T (p.Ser347Phe)2271FHUncertain significancers1573880377RCV000807889; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667410241667410GA1:g.241667410G>A-
NM_000143.4(FH):c.1037G>A (p.Gly346Asp)2271FHLikely pathogenic-1RCV001379328|RCV001780293; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667413241667413CT241667413-
NM_000143.4(FH):c.1036G>A (p.Gly346Ser)2271FHUncertain significancers1553341024RCV000635301; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667414241667414CT1:g.241667414C>TClinGen:CA345438176C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1035G>A (p.Leu345=)2271FHUncertain significancers1558397757RCV000696338; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667415241667415CTNC_000001.10:g.241667415C>T-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1030T>G (p.Phe344Val)2271FHUncertain significance-1RCV001973354; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667420241667420AC241667420-
NM_000143.4(FH):c.1028del (p.Arg343fs)2271FHPathogenicrs1553341026RCV000635295|RCV001784208; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667422241667422TCT1:g.241667422_241667422delClinGen:CA658795653C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1028G>A (p.Arg343Gln)2271FHUncertain significancers756990249RCV001017058|RCV001214537; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667422241667422CT1:g.241667422C>T-
NM_000143.4(FH):c.1028G>C (p.Arg343Pro)2271FHUncertain significance-1RCV001374022; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667422241667422CG241667422-
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)2271FHPathogenicrs121913122RCV000017622|RCV000130875|RCV000197989|RCV000635284; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667423241667423GA1:g.241667423G>AOMIM:136850.0006,ClinGen:CA167294C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1025T>C (p.Ile342Thr)2271FHUncertain significancers201383596RCV000569364|RCV001050789; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667425241667425AG1:g.241667425A>GClinGen:CA1478559C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1016_1024del (p.Ala339_Ile342delinsVal)2271FHUncertain significance-1RCV001872160; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667426241667434ATATCATTTGA241667425-
NM_000143.4(FH):c.1023T>G (p.Asp341Glu)2271FHLikely pathogenicrs863223973RCV000493972|RCV000818182; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667427241667427ACNC_000001.10:g.241667427A>CClinGen:CA319914C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1023T>C (p.Asp341=)2271FHLikely benignrs863223973RCV000568101|RCV001491649; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667427241667427AG1:g.241667427A>GClinGen:CA424075790C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1022A>G (p.Asp341Gly)2271FHUncertain significancers1060499640RCV000445616|RCV000689213; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667428241667428TCNC_000001.10:g.241667428T>CClinGen:CA16609365C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1021G>A (p.Asp341Asn)2271FHLikely pathogenicrs11545655RCV000472953; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667429241667429CTNC_000001.10:g.241667429C>TClinGen:CA16610053C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)2271FHPathogenic/Likely pathogenicrs398123159RCV000078140|RCV000228017|RCV000220396|RCV000445596; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241667430241667430AT1:g.241667430A>TClinGen:CA285319C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1016C>A (p.Ala339Glu)2271FHUncertain significancers1659852423RCV001217645; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667434241667434GT1:g.241667434G>T-
NM_000143.4(FH):c.1016C>T (p.Ala339Val)2271FHUncertain significance-1RCV001892815; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667434241667434GA241667434-
NM_000143.4(FH):c.1013T>C (p.Ile338Thr)2271FHUncertain significancers201975537RCV000121092|RCV000575122|RCV001061733|RCV001558721; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667437241667437AG1:g.241667437A>GClinGen:CA159743C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1003C>T (p.Leu335=)2271FHLikely benignrs1203364199RCV000566616|RCV001426931; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667447241667447GA1:g.241667447G>AClinGen:CA424075801C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1003C>G (p.Leu335Val)2271FHUncertain significancers1203364199RCV001042907; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667447241667447GC1:g.241667447G>C-
NM_000143.4(FH):c.1002T>C (p.Ser334=)2271FHLikely benign-1RCV001398180; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667448241667448AG241667448-
NM_000143.4(FH):c.1000dup (p.Ser334fs)2271FHPathogenicrs1659853029RCV001247757; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667449241667450CCT1:g.241667449_241667450insT-
NM_000143.4(FH):c.1000A>C (p.Ser334Arg)2271FHLikely pathogenicrs587782216RCV000130899|RCV000525776; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667450241667450TG1:g.241667450T>GClinGen:CA167342C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.999C>A (p.Cys333Ter)2271FHPathogenicrs1553341031RCV000635289; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667451241667451GT1:g.241667451G>TClinGen:CA345438252C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.999C>T (p.Cys333=)2271FHLikely benign-1RCV001472102; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667451241667451GA241667451-
NM_000143.4(FH):c.998G>A (p.Cys333Tyr)2271FHUncertain significancers1553341032RCV000635316|RCV001784211; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667452241667452CT1:g.241667452C>TClinGen:CA345438255C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.994G>A (p.Ala332Thr)2271FHUncertain significancers1157768121RCV000635309|RCV001019941; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241667456241667456CT1:g.241667456C>TClinGen:CA345438264C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.993T>C (p.Thr331=)2271FHLikely benignrs757921798RCV001019920|RCV001455597; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667457241667457AG1:g.241667457A>G-
NM_000143.4(FH):c.991dup (p.Thr331fs)2271FHPathogenicrs1553341034RCV000635294; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667458241667459GGT1:g.241667458_241667459insTClinGen:CA658795654C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.991A>G (p.Thr331Ala)2271FHUncertain significance-1RCV001871334; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667459241667459TC241667459-
NM_000143.4(FH):c.990T>G (p.Thr330=)2271FHLikely benign-1RCV002211710; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667460241667460AC241667460-
NM_000143.4(FH):c.989C>G (p.Thr330Ser)2271FHUncertain significancers200028270RCV000553642; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667461241667461GCNC_000001.10:g.241667461G>CClinGen:CA40327911C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.989C>T (p.Thr330Ile)2271FHUncertain significance-1RCV001962792; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667461241667461GA241667461-
NM_000143.4(FH):c.988A>C (p.Thr330Pro)2271FHConflicting interpretations of pathogenicityrs776313200RCV000697134|RCV001019860; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241667462241667462TGNC_000001.10:g.241667462T>G-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.988A>G (p.Thr330Ala)2271FHUncertain significancers776313200RCV001051009; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667462241667462TC1:g.241667462T>C-
NM_000143.4(FH):c.987C>T (p.Asn329=)2271FHLikely benignrs1049719RCV000930955|RCV001483847; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667463241667463GA1:g.241667463G>A-
NM_000143.4(FH):c.986A>G (p.Asn329Ser)2271FHUncertain significancers768483509RCV000457338|RCV000574405|RCV001591073; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241667464241667464TCNC_000001.10:g.241667464T>CClinGen:CA1478562C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.983T>G (p.Met328Arg)2271FHUncertain significance-1RCV001984179; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667467241667467AC241667467-
NM_000143.4(FH):c.982A>G (p.Met328Val)2271FHUncertain significance-1RCV001889836; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667468241667468TC241667468-
NM_000143.4(FH):c.981C>T (p.Ala327=)2271FHLikely benignrs1060504078RCV000474338; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667469241667469GANC_000001.10:g.241667469G>AClinGen:CA16610040C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.980C>T (p.Ala327Val)2271FHUncertain significancers1659854224RCV001218052; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667470241667470GA1:g.241667470G>A-
NM_000143.4(FH):c.979G>A (p.Ala327Thr)2271FHUncertain significancers1333344957RCV001346594; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667471241667471CT241667471-
NM_000143.4(FH):c.977G>A (p.Gly326Glu)2271FHUncertain significancers1553341037RCV000635293; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667473241667473CT1:g.241667473C>TClinGen:CA345438297C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.976G>A (p.Gly326Arg)2271FHUncertain significancers1553341038RCV000795583; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667474241667474CT1:g.241667474C>T-
NM_000143.4(FH):c.974G>C (p.Ser325Thr)2271FHUncertain significancers1423324601RCV000695514|RCV001019701; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241667476241667476CGNC_000001.10:g.241667476C>G-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.974G>A (p.Ser325Asn)2271FHUncertain significance-1RCV001362875; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667476241667476CT241667476-
NM_000143.4(FH):c.973A>T (p.Ser325Cys)2271FHUncertain significance-1RCV002016569; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667477241667477TA241667477-
NM_000143.4(FH):c.967G>A (p.Glu323Lys)2271FHLikely pathogenic-1RCV002024093; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667483241667483CT241667483-
NM_000143.4(FH):c.961C>G (p.Leu321Val)2271FHUncertain significance-1RCV001937221; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667489241667489GC241667489-
NM_000143.4(FH):c.958G>T (p.Ala320Ser)2271FHUncertain significancers766441385RCV001246874; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667492241667492CA1:g.241667492C>A-
NM_000143.4(FH):c.957C>T (p.Asp319=)2271FHLikely benignrs146751488RCV000543460|RCV000567373|RCV001534097; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241667493241667493GANC_000001.10:g.241667493G>AClinGen:CA1478567C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.956A>G (p.Asp319Gly)2271FHUncertain significancers1659855240RCV001224821; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667494241667494TC1:g.241667494T>C-
NM_000143.4(FH):c.953A>T (p.His318Leu)2271FHLikely pathogenic-1RCV001379329|RCV001780294; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667497241667497TA241667497-
NM_000143.4(FH):c.952C>T (p.His318Tyr)2271FHPathogenic/Likely pathogenicrs398123168RCV000078152|RCV000445608|RCV000635300|RCV000762893; NMedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24; Human Phenotype Onto1241667498241667498GA1:g.241667498G>AClinGen:CA285329C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.951T>C (p.Ala317=)2271FHLikely benign-1RCV001425794; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667499241667499AG241667499-
NM_000143.4(FH):c.950C>T (p.Ala317Val)2271FHPathogenic-1RCV001387329; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667500241667500GA241667500-
NM_000143.4(FH):c.947C>A (p.Ala316Asp)2271FHLikely pathogenicrs863224002RCV000199702|RCV000494152|RCV000697340; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667503241667503GT1:g.241667503G>TClinGen:CA324246C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.944T>C (p.Leu315Pro)2271FHUncertain significancers1573880531RCV000824604; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667506241667506AG1:g.241667506A>G-
NM_000143.4(FH):c.943C>G (p.Leu315Val)2271FHUncertain significancers1573880536RCV001019358|RCV001832346; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667507241667507GC1:g.241667507G>C-
NM_000143.4(FH):c.943C>T (p.Leu315=)2271FHLikely benign-1RCV001439241; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667507241667507GA241667507-
NM_000143.4(FH):c.941C>G (p.Ala314Gly)2271FHUncertain significancers1659856002RCV001349950; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667509241667509GC241667509-
NM_000143.4(FH):c.937G>A (p.Glu313Lys)2271FHConflicting interpretations of pathogenicityrs863224001RCV000199631|RCV000461129; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667513241667513CTNC_000001.10:g.241667513C>TClinGen:CA324175C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.936del (p.Phe312fs)2271FHPathogenic-1RCV001386340; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667514241667514CAC241667513-
NM_000143.4(FH):c.935T>G (p.Phe312Cys)2271FHLikely pathogenicrs1553341046RCV000635298|RCV001784209; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667515241667515ACNC_000001.10:g.241667515A>CClinGen:CA345438376C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.935T>C (p.Phe312Ser)2271FHLikely pathogenicrs1553341046RCV001050232|RCV001558848; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667515241667515AG1:g.241667515A>G-
NM_000143.4(FH):c.934T>C (p.Phe312Leu)2271FHLikely pathogenicrs863224000RCV000197788|RCV000533544|RCV000493445; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241667516241667516AG1:g.241667516A>GClinGen:CA322251C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.934T>G (p.Phe312Val)2271FHLikely pathogenic-1RCV002048976; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667516241667516AC241667516-
NM_000143.4(FH):c.933del (p.Lys311fs)2271FHPathogenic-1RCV002037805; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667517241667517ATA241667516-
NM_000143.4(FH):c.927G>A (p.Pro309=)2271FHBenignrs61737760RCV000131065|RCV000179718|RCV000346503|RCV000382481|RCV000589837; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667523241667523CT1:g.241667523C>TClinGen:CA167599C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.926C>T (p.Pro309Leu)2271FHUncertain significancers756528378RCV000230405|RCV001589168; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667524241667524GA1:g.241667524G>AClinGen:CA1478570C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.925C>T (p.Pro309Ser)2271FHConflicting interpretations of pathogenicityrs368849989RCV000469749|RCV000571863|RCV001591074; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241667525241667525GANC_000001.10:g.241667525G>AClinGen:CA1478571C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.924T>G (p.Ala308=)2271FHLikely benign-1RCV002176780; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667526241667526AC241667526-
NM_000143.4(FH):c.923C>G (p.Ala308Gly)2271FHPathogenic/Likely pathogenicrs1057524385RCV000430394|RCV000555247|RCV001019060; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241667527241667527GC1:g.241667527G>CClinGen:CA16603595C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.919del (p.Thr307fs)2271FHPathogenicrs1553341049RCV000635304; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667531241667531GTG1:g.241667531_241667531delClinGen:CA658795655C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.912_918del (p.Phe305fs)2271FHPathogenicrs794727836RCV000179717|RCV000199793|RCV000477647|RCV001018881; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241667532241667538TGACAAAAT1:g.241667532_241667538delClinGen:CA275378C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.917T>C (p.Val306Ala)2271FHUncertain significancers147991516RCV000540225|RCV000569138|RCV001097195|RCV001731756; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241667533241667533AG1:g.241667533A>GClinGen:CA1478573C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.916G>A (p.Val306Ile)2271FHUncertain significancers1659857390RCV001227126; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667534241667534CT1:g.241667534C>T-
NM_000143.4(FH):c.915T>G (p.Phe305Leu)2271FHLikely pathogenic-1RCV002023139; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667535241667535AC241667535-
NM_000143.4(FH):c.914T>C (p.Phe305Ser)2271FHLikely pathogenicrs1439046582RCV001018919|RCV001206783; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667536241667536AG1:g.241667536A>G-
NM_000143.4(FH):c.912T>G (p.Pro304=)2271FHLikely benignrs1573880603RCV000892808|RCV001018906|RCV002065587; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667538241667538AC1:g.241667538A>C-
NM_000143.4(FH):c.912T>C (p.Pro304=)2271FHLikely benign-1RCV001494387; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667538241667538AG241667538-
NM_000143.4(FH):c.911C>G (p.Pro304Arg)2271FHUncertain significancers200491078RCV000525503|RCV001545353; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667539241667539GC1:g.241667539G>CClinGen:CA1478574C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.910C>T (p.Pro304Ser)2271FHUncertain significancers1659857790RCV001246638; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667540241667540GA1:g.241667540G>A-
NM_000143.4(FH):c.909_910del (p.Leu303fs)2271FHPathogenic-1RCV001949393; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667540241667541GGCG241667539-
NM_000143.4(FH):c.909G>C (p.Leu303Phe)2271FHUncertain significance-1RCV001925886; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667541241667541CG241667541-
NM_000143.4(FH):c.908T>C (p.Leu303Ser)2271FHUncertain significancers201502246RCV000034486|RCV000471678|RCV000568576; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241667542241667542AG1:g.241667542A>GClinGen:CA215563C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.907T>G (p.Leu303Val)2271FHUncertain significancers1057523697RCV000445241|RCV001861624; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667543241667543AC1:g.241667543A>CClinGen:CA16603666CN169374 not specified;
NM_000143.4(FH):c.905G>A (p.Gly302Asp)2271FHUncertain significancers1162334354RCV001229703|RCV001553142; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667545241667545CT1:g.241667545C>T-
NM_000143.4(FH):c.905-1G>A2271FHPathogenic/Likely pathogenicrs797044973RCV000193655|RCV000493531|RCV000804152|RCV001534141; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241667546241667546CTNC_000001.10:g.241667546C>TClinGen:CA347392C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.905-3_905-2insATTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCC2271FHUncertain significance-1RCV001978896; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667547241667548TTAAAGAAAAGAAAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAA241667547-
NM_000143.4(FH):c.905-3T>C2271FHUncertain significancers1573880626RCV000800023|RCV001018725; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241667548241667548AG1:g.241667548A>G-
NM_000143.4(FH):c.905-5T>A2271FHUncertain significancers886046318RCV000311306|RCV000398468; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241667550241667550ATNC_000001.10:g.241667550A>TClinGen:CA10609674C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.905-5T>C2271FHLikely benign-1RCV002191225; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667550241667550AG241667550-
NM_000143.4(FH):c.905-6C>T2271FHLikely benign-1RCV002193232; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667551241667551GA241667551-
NM_000143.4(FH):c.905-10T>G2271FHLikely benignrs1060504080RCV000469084|RCV001481784; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241667555241667555ACNC_000001.10:g.241667555A>CClinGen:CA16610103C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.904+47G>A2271FHLikely benignrs145209119RCV000596534|RCV000830745|RCV001533678|RCV001533679; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241669256241669256CT1:g.241669256C>TClinGen:CA1478586CN169374 not specified;
NM_000143.4(FH):c.904+13G>A2271FHLikely benignrs572806212RCV001810667|RCV002070102; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669290241669290CT241669290-
NM_000143.4(FH):c.904+12C>A2271FHLikely benign-1RCV002123146; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669291241669291GT241669291-
NM_000143.4(FH):c.904+12C>T2271FHLikely benign-1RCV002107240; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669291241669291GA241669291-
NM_000143.4(FH):c.904+11A>C2271FHLikely benign-1RCV002164611; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669292241669292TG241669292-
NC_000001.11:g.(?_241505993)_(241506178_?)del2271FHPathogenic-1RCV000707820; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669293241669478nana-C0342770 606812 Fumarase deficiency;
NC_000001.11:g.(?_241505993)_(241506183_?)del2271FHPathogenic-1RCV001032921; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669293241669483nana-1-
NC_000001.10:g.(?_241669293)_(241683022_?)dup2271FHUncertain significance-1RCV002011466; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669293241683022nana-1-
NM_000143.4(FH):c.904+9T>A2271FHLikely benign-1RCV002123332; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669294241669294AT241669294-
NM_000143.4(FH):c.904+9T>G2271FHLikely benign-1RCV002210189; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669294241669294AC241669294-
NM_000143.4(FH):c.904+8A>G2271FHLikely benign-1RCV002188343; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669295241669295TC241669295-
NM_000143.4(FH):c.904+1G>A2271FHLikely pathogenicrs1553341148RCV000810820; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669302241669302CT1:g.241669302C>T-
NM_000143.4(FH):c.904+1G>T2271FHLikely pathogenic-1RCV001993876; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669302241669302CA241669302-
NM_000143.4(FH):c.904G>A (p.Gly302Ser)2271FHUncertain significancers200412958RCV001299094; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669303241669303CT241669303-
NM_000143.4(FH):c.903A>C (p.Thr301=)2271FHUncertain significancers1659918712RCV001205513; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669304241669304TG1:g.241669304T>G-
NM_000143.4(FH):c.900T>C (p.Leu300=)2271FHLikely benign-1RCV001437565; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669307241669307AG241669307-
NM_000143.4(FH):c.900T>A (p.Leu300=)2271FHLikely benign-1RCV001438750; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669307241669307AT241669307-
NM_000143.4(FH):c.897A>G (p.Ala299=)2271FHLikely benignrs1553341151RCV000576008|RCV002060516; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669310241669310TC1:g.241669310T>CClinGen:CA424075879C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.896C>T (p.Ala299Val)2271FHUncertain significance-1RCV001999008; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669311241669311GA241669311-
NM_000143.4(FH):c.894T>C (p.Ala298=)2271FHLikely benignrs372099505RCV000555439|RCV001550598; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241669313241669313AG1:g.241669313A>GClinGen:CA1478596C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.893C>G (p.Ala298Gly)2271FHUncertain significancers1573881563RCV000798134; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669314241669314GC1:g.241669314G>C-
NM_000143.4(FH):c.892G>C (p.Ala298Pro)2271FHConflicting interpretations of pathogenicityrs201395553RCV000442479|RCV000445630|RCV000493248|RCV001048318; NMedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669315241669315CG1:g.241669315C>GClinGen:CA246534C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.889G>A (p.Val297Met)2271FHUncertain significance-1RCV001997606; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669318241669318CT241669318-
NM_000143.4(FH):c.887_888del (p.Lys296fs)2271FHPathogenic-1RCV001883977; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669319241669320CTTC241669318-
NM_000143.4(FH):c.887A>G (p.Lys296Arg)2271FHUncertain significancers933479705RCV001303809; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669320241669320TC241669320-
NM_000143.4(FH):c.885A>G (p.Ala295=)2271FHLikely benign-1RCV001476200; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669322241669322TC241669322-
NM_000143.4(FH):c.883G>A (p.Ala295Thr)2271FHConflicting interpretations of pathogenicityrs145843819RCV000034485|RCV000121091|RCV000166620|RCV000687788; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669324241669324CT1:g.241669324C>TClinGen:CA159740C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.880G>A (p.Ala294Thr)2271FHUncertain significancers1659920259RCV001067825; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669327241669327CT1:g.241669327C>T-
NM_000143.4(FH):c.877G>A (p.Val293Ile)2271FHUncertain significancers749029092RCV000818201; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669330241669330CT1:g.241669330C>T-
NM_000143.4(FH):c.876G>T (p.Lys292Asn)2271FHUncertain significance-1RCV002041898; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669331241669331CA241669331-
NM_000143.4(FH):c.874A>C (p.Lys292Gln)2271FHUncertain significancers771087739RCV001018267|RCV001053290; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669333241669333TG1:g.241669333T>G-
NM_000143.4(FH):c.872A>G (p.Glu291Gly)2271FHUncertain significance-1RCV001889254; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669335241669335TC241669335-
NM_000143.4(FH):c.855T>C (p.Thr285=)2271FHLikely benignrs1573881600RCV000994325|RCV002067603; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669352241669352AG1:g.241669352A>G-
NM_000143.4(FH):c.853A>G (p.Thr285Ala)2271FHUncertain significancers200791185RCV000791903; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669354241669354TC1:g.241669354T>C-
NM_000143.4(FH):c.853A>T (p.Thr285Ser)2271FHUncertain significance-1RCV002032909; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669354241669354TA241669354-
NM_000143.4(FH):c.852T>C (p.Asn284=)2271FHLikely benign-1RCV002080846; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669355241669355AG241669355-
NM_000143.4(FH):c.848T>C (p.Leu283Ser)2271FHUncertain significancers1659921346RCV001037686; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669359241669359AG1:g.241669359A>G-
NM_000143.4(FH):c.845G>T (p.Gly282Val)2271FHUncertain significancers935002190RCV001233921; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669362241669362CA1:g.241669362C>A-
NM_000143.4(FH):c.844G>C (p.Gly282Arg)2271FHLikely pathogenicrs1573881629RCV000808375; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669363241669363CG1:g.241669363C>G-
NM_000143.4(FH):c.842C>T (p.Thr281Ile)2271FHConflicting interpretations of pathogenicityrs1573881633RCV001017764|RCV001349882; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669365241669365GA1:g.241669365G>A-
NM_000143.4(FH):c.839G>A (p.Gly280Asp)2271FHUncertain significancers863223969RCV000197030|RCV001054397|RCV001249415; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241669368241669368CT1:g.241669368C>TClinGen:CA321464CN169374 not specified;
NM_000143.4(FH):c.838G>A (p.Gly280Ser)2271FHUncertain significancers1659921742RCV001063804; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669369241669369CT1:g.241669369C>T-
NM_000143.4(FH):c.831T>C (p.Thr277=)2271FHLikely benignrs113349873RCV001017545|RCV001454802; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669376241669376AG1:g.241669376A>G-
NM_000143.4(FH):c.830C>G (p.Thr277Ser)2271FHUncertain significancers1553341160RCV000540721|RCV001755818; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241669377241669377GC1:g.241669377G>CClinGen:CA345438935C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.824_827dup (p.Thr277fs)2271FHPathogenicrs1659922131RCV001231819; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669379241669380GGCCTC1:g.241669379_241669380insCCTC-
NM_000143.4(FH):c.827G>A (p.Gly276Asp)2271FHLikely pathogenic-1RCV001378591; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669380241669380CT241669380-
NM_000143.4(FH):c.823G>C (p.Gly275Arg)2271FHConflicting interpretations of pathogenicityrs1060499639RCV000445614|RCV000489286|RCV000494229|RCV000700426; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669384241669384CGNC_000001.10:g.241669384C>GClinGen:CA16609366C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.823G>A (p.Gly275Arg)2271FHUncertain significancers1060499639RCV000460545; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669384241669384CTNC_000001.10:g.241669384C>TClinGen:CA16610104C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.823G>T (p.Gly275Ter)2271FHPathogenic-1RCV001387419; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669384241669384CA241669384-
NM_000143.4(FH):c.822dup (p.Gly275fs)2271FHPathogenic-1RCV001897691; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669384241669385CCA241669384-
NM_000143.4(FH):c.817G>A (p.Ala273Thr)2271FHUncertain significancers772190176RCV000200636|RCV000467363|RCV000572182; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241669390241669390CTNC_000001.10:g.241669390C>TClinGen:CA325227C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.816C>T (p.Leu272=)2271FHLikely benignrs775368701RCV000871957|RCV001027240|RCV001698468; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241669391241669391GA1:g.241669391G>AClinGen:CA1478601CN169374 not specified;
NM_000143.4(FH):c.814C>A (p.Leu272Ile)2271FHUncertain significancers779019570RCV000477240|RCV000574968|RCV001770311; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241669393241669393GTNC_000001.10:g.241669393G>TClinGen:CA16610105C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.809A>G (p.Tyr270Cys)2271FHUncertain significancers202060616RCV000525718|RCV000573963|RCV001551931; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241669398241669398TCNC_000001.10:g.241669398T>CClinGen:CA1478602C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.807C>T (p.Ile269=)2271FHLikely benign-1RCV001459257; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669400241669400GA241669400-
NM_000143.4(FH):c.807C>A (p.Ile269=)2271FHLikely benign-1RCV002151438; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669400241669400GT241669400-
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)2271FHPathogenic/Likely pathogenicrs786202220RCV000164936|RCV000471022|RCV001559555; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241669401241669421GATTCTTGGCATGGCAGCTTTTG1:g.241669401_241669421delClinGen:CA192112C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.805del (p.Ile269fs)2271FHPathogenicrs1131691234RCV000493233|RCV001038811; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669402241669402ATANC_000001.10:g.241669403delClinGen:CA645369176C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.805A>G (p.Ile269Val)2271FHUncertain significancers377015873RCV000569054|RCV001554283|RCV001241084; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669402241669402TC1:g.241669402T>CClinGen:CA40328204C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.803G>T (p.Arg268Ile)2271FHUncertain significance-1RCV001360504; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669404241669404CA241669404-
NM_000143.4(FH):c.802A>G (p.Arg268Gly)2271FHUncertain significance-1RCV001924776; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669405241669405TC241669405-
NM_000143.4(FH):c.800C>T (p.Pro267Leu)2271FHUncertain significance-1RCV001866401; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669407241669407GA241669407-
NM_000143.4(FH):c.797dup (p.Met266fs)2271FHPathogenicrs863223981RCV000195789|RCV001853178; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669409241669410CCA1:g.241669409_241669410insAClinGen:CA320163CN517202 not provided;
NM_000143.4(FH):c.797T>C (p.Met266Thr)2271FHUncertain significance-1RCV002011623; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669410241669410AG241669410-
NM_000143.4(FH):c.795C>T (p.Ala265=)2271FHLikely benign-1RCV001411424; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669412241669412GA241669412-
NM_000143.4(FH):c.793G>A (p.Ala265Thr)2271FHPathogenicrs387906545RCV000017617; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669414241669414CT1:g.241669414C>TClinGen:CA257450,OMIM:136850.0001C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.792T>C (p.Ala264=)2271FHLikely benignrs368234566RCV001026966|RCV002069560; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669415241669415AG1:g.241669415A>G-
NM_000143.4(FH):c.785T>G (p.Ile262Arg)2271FHUncertain significancers786203177RCV000166376|RCV001577505|RCV001850342; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669422241669422AC1:g.241669422A>CClinGen:CA195695C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.784A>G (p.Ile262Val)2271FHUncertain significancers199829765RCV001061420; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669423241669423TC1:g.241669423T>C-
NM_000143.4(FH):c.784A>C (p.Ile262Leu)2271FHUncertain significancers199829765RCV001216316; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669423241669423TG1:g.241669423T>G-
NM_000143.4(FH):c.783A>G (p.Arg261=)2271FHLikely benignrs1573881721RCV001026861|RCV002067704; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669424241669424TC1:g.241669424T>C-
NM_000143.4(FH):c.782G>T (p.Arg261Ile)2271FHConflicting interpretations of pathogenicityrs61736558RCV000570420|RCV000820902; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669425241669425CA1:g.241669425C>AClinGen:CA40328246C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.780_781del (p.Arg261fs)2271FHPathogenicrs1659924638RCV001048632; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669426241669427CTTC1:g.241669426_241669427del-
NM_000143.4(FH):c.779C>G (p.Thr260Arg)2271FHUncertain significance-1RCV001967517; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669428241669428GC241669428-
NM_000143.4(FH):c.777G>A (p.Met259Ile)2271FHUncertain significance-1RCV001911958; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669430241669430CT241669430-
NM_000143.4(FH):c.776T>A (p.Met259Lys)2271FHUncertain significancers1407485828RCV000796601; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669431241669431AT1:g.241669431A>T-
NM_000143.4(FH):c.776T>C (p.Met259Thr)2271FHUncertain significance-1RCV002001375; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669431241669431AG241669431-
NM_000143.4(FH):c.775A>C (p.Met259Leu)2271FHUncertain significance-1RCV001993920; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669432241669432TG241669432-
NM_000143.4(FH):c.774A>T (p.Ala258=)2271FHLikely benign-1RCV001443859; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669433241669433TA241669433-
NM_000143.4(FH):c.774A>G (p.Ala258=)2271FHLikely benign-1RCV002141961; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669433241669433TC241669433-
NM_000143.4(FH):c.771T>C (p.Tyr257=)2271FHLikely benignrs199909758RCV000942156|RCV001026754|RCV001788380; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241669436241669436AG1:g.241669436A>G-
NM_000143.4(FH):c.765A>G (p.Val255=)2271FHLikely benignrs200965107RCV000892884|RCV001026674; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241669442241669442TC1:g.241669442T>C-
NM_000143.4(FH):c.763G>A (p.Val255Ile)2271FHUncertain significancers752144845RCV001026656|RCV001273817|RCV001759919; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241669444241669444CT1:g.241669444C>T-
NM_000143.4(FH):c.760C>T (p.Gln254Ter)2271FHPathogenicrs398123167RCV000078151|RCV000547417; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669447241669447GA1:g.241669447G>AClinGen:CA220387C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.759A>G (p.Gln253=)2271FHConflicting interpretations of pathogenicityrs147518314RCV000797170|RCV001026602; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241669448241669448TC1:g.241669448T>C-
NM_000143.4(FH):c.754G>A (p.Val252Ile)2271FHUncertain significance-1RCV001946020; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669453241669453CT241669453-
NM_000143.4(FH):c.749G>T (p.Gly250Val)2271FHUncertain significance-1RCV001359128; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669458241669458CA241669458-
NM_000143.4(FH):c.748G>C (p.Gly250Arg)2271FHUncertain significance-1RCV001875581; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669459241669459CG241669459-
NM_000143.4(FH):c.744T>C (p.Phe248=)2271FHLikely benign-1RCV002173008; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669463241669463AG241669463-
NM_000143.4(FH):c.741A>G (p.Glu247=)2271FHLikely benign-1RCV001492509; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669466241669466TC241669466-
NM_000143.4(FH):c.739G>T (p.Glu247Ter)2271FHPathogenicrs1131691243RCV000493486|RCV000696053|RCV001782986; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241669468241669468CANC_000001.10:g.241669468C>AClinGen:CA345439127C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.739-2A>C2271FHLikely pathogenicrs1553341174RCV000537500; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669470241669470TG1:g.241669470T>GClinGen:CA345439135C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.739-2A>G2271FHPathogenic/Likely pathogenicrs1553341174RCV000810413|RCV001563611; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241669470241669470TC1:g.241669470T>C-
NM_000143.4(FH):c.739-17TTTTC[2]2271FHConflicting interpretations of pathogenicityrs745617145RCV000863299|RCV001556917; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241669471241669475TGAAAAT1:g.241669471_241669475del-
NM_000143.4(FH):c.739-9T>C2271FHLikely benign-1RCV001467014; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669477241669477AG241669477-
NM_000143.4(FH):c.739-10T>C2271FHBenign/Likely benignrs201971572RCV000233450|RCV000245107|RCV000300539|RCV001706244; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN169374|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241669478241669478AGNC_000001.10:g.241669478A>GClinGen:CA1478618C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.739-10T>G2271FHLikely benignrs201971572RCV000874711|RCV001414809; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669478241669478AC1:g.241669478A>C-
NM_000143.4(FH):c.739-12T>G2271FHLikely benign-1RCV002207339; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669480241669480AC241669480-
NM_000143.4(FH):c.739-15T>G2271FHLikely benignrs746109501RCV000877260; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241669483241669483AC1:g.241669483A>C-
NM_000143.4(FH):c.738+19T>C2271FHLikely benign-1RCV002166677; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671884241671884AG241671884-
NM_000143.4(FH):c.738+17A>G2271FHLikely benign-1RCV002189499; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671886241671886TC241671886-
NM_000143.4(FH):c.738+14A>G2271FHConflicting interpretations of pathogenicityrs765629644RCV001098957|RCV001098956; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241671889241671889TC1:g.241671889T>C-
NC_000001.11:g.(?_241508593)_(241513723_?)del2271FHLikely pathogenic-1RCV001033144; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671893241677023nana-1-
NM_000143.4(FH):c.738+9G>T2271FHLikely benignrs1443246780RCV000865006; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671894241671894CA1:g.241671894C>A-
NM_000143.4(FH):c.738+9G>A2271FHLikely benign-1RCV002199046; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671894241671894CT241671894-
NM_000143.4(FH):c.738+5A>G2271FHUncertain significance-1RCV001977232; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671898241671898TC241671898-
NM_000143.4(FH):c.722_738+3del2271FHPathogenicrs1064792900RCV000445593|RCV001042262|RCV001026175; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241671900241671919ATACCTGCCCAAGAGTAAGTGANC_000001.10:g.241671900_241671919delClinGen:CA16609369C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.738+3A>G2271FHUncertain significancers1659988181RCV001206536; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671900241671900TC1:g.241671900T>C-
NM_000143.4(FH):c.738+2T>C2271FHPathogenic/Likely pathogenicrs1060500901RCV000458630|RCV001577061; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241671901241671901AGNC_000001.10:g.241671901A>GClinGen:CA16610056C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.738+1G>A2271FHPathogenicrs1659988368RCV001234500; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671902241671902CT1:g.241671902C>T-
NM_000143.4(FH):c.738G>C (p.Gln246His)2271FHUncertain significance-1RCV001922518; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671903241671903CG241671903-
NM_000143.4(FH):c.737del (p.Gln246fs)2271FHPathogenicrs727503928RCV000153236|RCV001058354; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671904241671904CTC1:g.241671904_241671904delClinGen:CA233991CN517202 not provided;
NM_000143.4(FH):c.735_736delinsTT (p.Gln246Ter)2271FHPathogenic-1RCV001382328; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671905241671906GCAA241671905-
NM_000143.4(FH):c.734_735del (p.Gly245fs)2271FHPathogenic-1RCV001390553; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671906241671907GCCG241671905-
NM_000143.4(FH):c.735G>C (p.Gly245=)2271FHLikely benign-1RCV001469096; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671906241671906CG241671906-
NM_000143.4(FH):c.733G>A (p.Gly245Arg)2271FHUncertain significance-1RCV001561482|RCV001865980; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671908241671908CT241671908-
NM_000143.4(FH):c.732T>C (p.Leu244=)2271FHLikely benign-1RCV002201811; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671909241671909AG241671909-
NM_000143.4(FH):c.731T>C (p.Leu244Pro)2271FHUncertain significancers1060499636RCV000635312; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671910241671910AG1:g.241671910A>GClinGen:CA345439154C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.729T>C (p.Thr243=)2271FHLikely benignrs1573883071RCV000936027|RCV001422513; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671912241671912AG1:g.241671912A>G-
NM_000143.4(FH):c.723_724del (p.Leu242fs)2271FHPathogenic-1RCV002011972; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671917241671918AGTA241671916-
NM_000143.4(FH):c.723A>G (p.Pro241=)2271FHLikely benign-1RCV001453207; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671918241671918TC241671918-
NM_000143.4(FH):c.722C>T (p.Pro241Leu)2271FHUncertain significancers1553341319RCV000563559|RCV001853769; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671919241671919GA1:g.241671919G>AClinGen:CA345439171C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.721C>G (p.Pro241Ala)2271FHUncertain significancers1349419396RCV001206490; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671920241671920GC1:g.241671920G>C-
NM_000143.4(FH):c.720T>C (p.Val240=)2271FHLikely benign-1RCV001449406; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671921241671921AG241671921-
NM_000143.4(FH):c.718G>C (p.Val240Leu)2271FHUncertain significance-1RCV002001916; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671923241671923CG241671923-
NM_000143.4(FH):c.714T>C (p.Asp238=)2271FHLikely benign-1RCV001482128; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671927241671927AG241671927-
NM_000143.4(FH):c.712G>A (p.Asp238Asn)2271FHUncertain significancers1659989676RCV001215525; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671929241671929CT1:g.241671929C>T-
NM_000143.4(FH):c.711G>A (p.Gln237=)2271FHUncertain significance-1RCV001893684; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671930241671930CT241671930-
NM_000143.4(FH):c.707C>T (p.Thr236Ile)2271FHUncertain significance-1RCV001978743; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671934241671934GA241671934-
NM_000143.4(FH):c.706A>G (p.Thr236Ala)2271FHConflicting interpretations of pathogenicityrs1064793126RCV000482578|RCV001320607; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671935241671935TC1:g.241671935T>CClinGen:CA16617116CN517202 not provided;
NM_000143.4(FH):c.705T>G (p.His235Gln)2271FHUncertain significancers919993170RCV000821824; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671936241671936AC1:g.241671936A>C-
NM_000143.4(FH):c.704A>G (p.His235Arg)2271FHUncertain significancers1659990191RCV001047158|RCV001784597; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241671937241671937TC1:g.241671937T>C-
NM_000143.4(FH):c.702T>G (p.Thr234=)2271FHBenign/Likely benignrs201083387RCV000494047|RCV000827769|RCV001083333; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671939241671939ACNC_000001.10:g.241671939A>CClinGen:CA1478629C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.701C>T (p.Thr234Ile)2271FHUncertain significancers878853695RCV000229462; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671940241671940GA1:g.241671940G>AClinGen:CA10581783C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.700A>G (p.Thr234Ala)2271FHPathogenic/Likely pathogenicrs372505976RCV000163828|RCV000195694|RCV000548793; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671941241671941TC1:g.241671941T>CClinGen:CA189288C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.700A>C (p.Thr234Pro)2271FHUncertain significancers372505976RCV000537762; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671941241671941TG1:g.241671941T>GClinGen:CA345439217C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.698G>A (p.Arg233His)2271FHPathogenicrs121913123RCV000017623|RCV000178717|RCV000196988|RCV000493379; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241671943241671943CT1:g.241671943C>TClinGen:CA257459,UniProtKB:P07954#VAR_013501,OMIM:136850.0007C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.698G>T (p.Arg233Leu)2271FHPathogenic/Likely pathogenicrs121913123RCV000017624|RCV001781272|RCV001851896; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671943241671943CA1:g.241671943C>AClinGen:CA257461,OMIM:136850.0008C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.698G>C (p.Arg233Pro)2271FHLikely pathogenic-1RCV001980524; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671943241671943CG241671943-
NM_000143.4(FH):c.697C>T (p.Arg233Cys)2271FHPathogenicrs587781682RCV000129845|RCV000153237|RCV000549060; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671944241671944GA1:g.241671944G>AClinGen:CA165194C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.697C>G (p.Arg233Gly)2271FHConflicting interpretations of pathogenicityrs587781682RCV001025872|RCV001222477; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671944241671944GC1:g.241671944G>C-
NM_000143.3(FH):c.695G>A (p.Gly232Glu)2271FHUncertain significancers727503929RCV000153238|RCV001850093; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671946241671946CT1:g.241671946C>TClinGen:CA233992CN169374 not specified;
NM_000143.4(FH):c.692T>C (p.Ile231Thr)2271FHUncertain significancers1335587342RCV000562550|RCV000804121|RCV001770522; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241671949241671949AG1:g.241671949A>GClinGen:CA345439228C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.691A>G (p.Ile231Val)2271FHUncertain significancers1659991322RCV001208301; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671950241671950TC1:g.241671950T>C-
NM_000143.4(FH):c.691A>C (p.Ile231Leu)2271FHUncertain significance-1RCV001583548|RCV001832810; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671950241671950TG241671950-
NM_000143.4(FH):c.690G>C (p.Lys230Asn)2271FHLikely pathogenic-1RCV001980898; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671951241671951CG241671951-
NM_000143.4(FH):c.689A>G (p.Lys230Arg)2271FHPathogenicrs752232718RCV000494410|RCV000534273|RCV001782983; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241671952241671952TCNC_000001.10:g.241671952T>CClinGen:CA1478630C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.688A>G (p.Lys230Glu)2271FHUncertain significancers863223967RCV000560807; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671953241671953TC1:g.241671953T>CClinGen:CA323255C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.688A>C (p.Lys230Gln)2271FHPathogenic-1RCV001385784; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671953241671953TG241671953-
NM_000143.4(FH):c.687C>G (p.Ile229Met)2271FHUncertain significancers755587163RCV000690860; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671954241671954GCNC_000001.10:g.241671954G>C-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.685A>G (p.Ile229Val)2271FHUncertain significancers764065194RCV000820286; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671956241671956TC1:g.241671956T>C-
NM_000143.4(FH):c.684C>T (p.Ile228=)2271FHLikely benignrs1384151924RCV000546136; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671957241671957GA1:g.241671957G>AClinGen:CA424076050C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.683T>C (p.Ile228Thr)2271FHUncertain significancers753773918RCV000820373; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671958241671958AG1:g.241671958A>G-
NM_000143.4(FH):c.679C>T (p.Gln227Ter)2271FHPathogenicrs11545658RCV000468298|RCV001782932; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241671962241671962GANC_000001.10:g.241671962G>AClinGen:CA16610075C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.678A>G (p.Ala226=)2271FHLikely benignrs757078832RCV000531108|RCV001025644; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241671963241671963TC1:g.241671963T>CClinGen:CA1478634C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.677C>A (p.Ala226Glu)2271FHUncertain significancers778786425RCV000820296|RCV001766736; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241671964241671964GT1:g.241671964G>T-
NM_000143.4(FH):c.674_675del (p.Phe225fs)2271FHPathogenic-1RCV001877375; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671966241671967CAAC241671965-
NM_000143.4(FH):c.675T>A (p.Phe225Leu)2271FHUncertain significance-1RCV002026523; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671966241671966AT241671966-
NM_000143.4(FH):c.674T>C (p.Phe225Ser)2271FHUncertain significancers149651434RCV000557332; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671967241671967AG1:g.241671967A>GClinGen:CA40329413C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.671_672del (p.Glu224fs)2271FHPathogenicrs780001199RCV000017621|RCV001383001; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671969241671970ACTA1:g.241671969_241671970delClinGen:CA257458,OMIM:136850.0005C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.670G>A (p.Glu224Lys)2271FHUncertain significancers1060500905RCV000466177; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671971241671971CTNC_000001.10:g.241671971C>TClinGen:CA16610057C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.668_669del (p.Lys223fs)2271FHPathogenicrs886039364RCV000255892|RCV001226143; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671972241671973CTTC1:g.241671972_241671973delClinGen:CA10588291CN517202 not provided;
NM_000143.4(FH):c.669A>G (p.Lys223=)2271FHLikely benignrs1573883183RCV000842673|RCV001025541|RCV001087161; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671972241671972TC1:g.241671972T>C-
NM_000143.4(FH):c.668A>C (p.Lys223Thr)2271FHUncertain significancers1064795294RCV000480081|RCV001025534|RCV001069489; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671973241671973TG1:g.241671973T>GClinGen:CA16617117CN169374 not specified;
NM_000143.4(FH):c.668A>T (p.Lys223Ile)2271FHUncertain significancers1064795294RCV000817439; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671973241671973TA1:g.241671973T>A-
NM_000143.4(FH):c.668A>G (p.Lys223Arg)2271FHUncertain significance-1RCV001977146; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671973241671973TC241671973-
NM_000143.4(FH):c.667A>T (p.Lys223Ter)2271FHPathogenic-1RCV001881914; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671974241671974TA241671974-
NM_000143.4(FH):c.664T>A (p.Ser222Thr)2271FHUncertain significancers1448268784RCV000699536|RCV000761058|RCV001816725|RCV001843543; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:C2698310|MedGen:CN169374|Human Phenotype Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624, Orphanet:4491241671977241671977ATNC_000001.10:g.241671977A>T-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.664T>C (p.Ser222Pro)2271FHLikely pathogenic-1RCV001775239; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671977241671977AG241671977-
NM_000143.4(FH):c.662A>T (p.Lys221Ile)2271FHUncertain significance-1RCV001928576; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671979241671979TA241671979-
NM_000143.4(FH):c.658_659delinsTT (p.Ala220Leu)2271FHUncertain significancers1060500893RCV000471408|RCV001025432; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241671982241671983GCAANC_000001.10:g.241671982_241671983delinsAAClinGen:CA16610058C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.658G>A (p.Ala220Thr)2271FHUncertain significance-1RCV001989713; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671983241671983CT241671983-
NM_000143.4(FH):c.657T>G (p.Asp219Glu)2271FHUncertain significancers995196012RCV000795766; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671984241671984AC1:g.241671984A>C-
NM_000143.4(FH):c.655G>A (p.Asp219Asn)2271FHConflicting interpretations of pathogenicityrs11545656RCV000472774|RCV001025411|RCV001098958; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241671986241671986CTNC_000001.10:g.241671986C>TClinGen:CA1478641C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.653T>C (p.Leu218Pro)2271FHPathogenicrs1553341345RCV000546318; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671988241671988AG1:g.241671988A>GClinGen:CA345439305C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.648T>A (p.Asp216Glu)2271FHUncertain significancers199536615RCV000564564|RCV000705539|RCV001821687|RCV001529212; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN169374|MedGen:CN5172021241671993241671993AT1:g.241671993A>TClinGen:CA1478642C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.648T>G (p.Asp216Glu)2271FHUncertain significancers199536615RCV001352503; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671993241671993AC241671993-
NM_000143.4(FH):c.647A>T (p.Asp216Val)2271FHUncertain significancers1553341348RCV000531582; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671994241671994TA1:g.241671994T>AClinGen:CA345439320C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.644A>T (p.His215Leu)2271FHUncertain significancers770141324RCV001060564; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241671997241671997TA1:g.241671997T>A-
NM_000143.4(FH):c.639G>A (p.Lys213=)2271FHLikely benignrs377222193RCV000842699|RCV001088964; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672002241672002CT1:g.241672002C>TClinGen:CA1478644C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.638A>G (p.Lys213Arg)2271FHUncertain significancers1659995341RCV001325513; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672003241672003TC241672003-
NM_000143.4(FH):c.636G>A (p.Gln212=)2271FHLikely benign-1RCV001477008; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672005241672005CT241672005-
NM_000143.4(FH):c.634C>T (p.Gln212Ter)2271FHPathogenicrs1553341353RCV000539618|RCV001783040; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241672007241672007GA1:g.241672007G>AClinGen:CA345439351C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.634C>G (p.Gln212Glu)2271FHUncertain significance-1RCV002050598; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672007241672007GC241672007-
NM_000143.4(FH):c.633A>G (p.Leu211=)2271FHLikely benign-1RCV002111090; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672008241672008TC241672008-
NM_000143.4(FH):c.628G>A (p.Gly210Arg)2271FHUncertain significancers949267641RCV000476352; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672013241672013CTNC_000001.10:g.241672013C>TClinGen:CA16610109C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.621G>A (p.Leu207=)2271FHLikely benign-1RCV001398084; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672020241672020CT241672020-
NM_000143.4(FH):c.620T>C (p.Leu207Pro)2271FHUncertain significancers1060500894RCV000458414; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672021241672021AGNC_000001.10:g.241672021A>GClinGen:CA16610111C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.619C>T (p.Leu207=)2271FHLikely benign-1RCV001438553; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672022241672022GA241672022-
NM_000143.4(FH):c.618A>C (p.Val206=)2271FHLikely benign-1RCV002135866; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672023241672023TG241672023-
NM_000143.4(FH):c.616G>A (p.Val206Ile)2271FHUncertain significancers763183520RCV000460134|RCV001024965|RCV001591075; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241672025241672025CTNC_000001.10:g.241672025C>TClinGen:CA1478645C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.616G>T (p.Val206Leu)2271FHUncertain significancers763183520RCV000802630; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672025241672025CA1:g.241672025C>A-
NM_000143.4(FH):c.615A>G (p.Glu205=)2271FHLikely benignrs1474356587RCV000932650; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672026241672026TC1:g.241672026T>C-
NM_000143.4(FH):c.612T>A (p.His204Gln)2271FHUncertain significancers1424868653RCV001216496; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672029241672029AT1:g.241672029A>T-
NM_000143.4(FH):c.612T>G (p.His204Gln)2271FHUncertain significancers1424868653RCV001248552; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672029241672029AC1:g.241672029A>C-
NM_000143.4(FH):c.611A>G (p.His204Arg)2271FHUncertain significancers1060500898RCV000461966; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672030241672030TCNC_000001.10:g.241672030T>CClinGen:CA16610080C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.611A>T (p.His204Leu)2271FHUncertain significancers1060500898RCV000685373; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672030241672030TANC_000001.10:g.241672030T>A-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.610C>A (p.His204Asn)2271FHUncertain significancers863223996RCV000196812|RCV001045533; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672031241672031GT1:g.241672031G>TClinGen:CA321226CN169374 not specified;
NM_000143.4(FH):c.609T>G (p.Val203=)2271FHLikely benign-1RCV002144743; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672032241672032AC241672032-
NM_000143.4(FH):c.608T>G (p.Val203Gly)2271FHUncertain significance-1RCV001987330; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672033241672033AC241672033-
NM_000143.4(FH):c.603A>G (p.Ile201Met)2271FHUncertain significance-1RCV001943070; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672038241672038TC241672038-
NM_000143.4(FH):c.602T>C (p.Ile201Thr)2271FHUncertain significancers1476664795RCV001054456; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672039241672039AG1:g.241672039A>G-
NM_000143.4(FH):c.601A>G (p.Ile201Val)2271FHUncertain significancers1659997422RCV001326843; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672040241672040TC241672040-
NM_000143.4(FH):c.600A>G (p.Ala200=)2271FHLikely benignrs1490011492RCV000908568|RCV001423350; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672041241672041TC1:g.241672041T>C-
NM_000143.4(FH):c.600A>C (p.Ala200=)2271FHLikely benignrs1490011492RCV001024800|RCV001428504; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672041241672041TG1:g.241672041T>G-
NM_000143.4(FH):c.591TGC[2] (p.Ala200del)2271FHConflicting interpretations of pathogenicityrs786202907RCV000165970|RCV000691558; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672042241672044TGCAT1:g.241672042_241672044delClinGen:CA194673C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.599C>T (p.Ala200Val)2271FHUncertain significancers1659997677RCV001317256; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672042241672042GA241672042-
NM_000143.4(FH):c.593C>G (p.Ala198Gly)2271FHUncertain significancers1414507017RCV000575434|RCV001764648|RCV001858147; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672048241672048GC1:g.241672048G>CClinGen:CA345439430C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.589A>G (p.Ile197Val)2271FHUncertain significancers201764931RCV001061024; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672052241672052TC1:g.241672052T>C-
NM_000143.4(FH):c.589A>C (p.Ile197Leu)2271FHUncertain significancers201764931RCV001309017; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672052241672052TG241672052-
NM_000143.4(FH):c.589A>T (p.Ile197Phe)2271FHLikely pathogenic-1RCV001969105; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672052241672052TA241672052-
NM_000143.4(FH):c.564_587delinsG (p.Asn188fs)2271FHPathogenicrs1573883310RCV000823629; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672054241672077TGCATTGCTGTGGGAAAAGTATCAC1:g.241672055_241672077del-
NM_000143.4(FH):c.584T>C (p.Met195Thr)2271FHPathogenic/Likely pathogenicrs863223965RCV000505795|RCV000693506; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672057241672057AG1:g.241672057A>GClinGen:CA324917C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.583A>G (p.Met195Val)2271FHPathogenicrs1553341364RCV000532944; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672058241672058TC1:g.241672058T>CClinGen:CA345439454C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.581C>A (p.Ala194Glu)2271FHUncertain significancers1558399442RCV000693108; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672060241672060GTNC_000001.10:g.241672060G>T-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.580G>A (p.Ala194Thr)2271FHUncertain significancers587782215RCV000130897|RCV000477037|RCV000765096|RCV001731390|RCV001547779; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24; Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C17081241672061241672061CT1:g.241672061C>TClinGen:CA167337C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.580G>T (p.Ala194Ser)2271FHUncertain significance-1RCV001371419; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672061241672061CA241672061-
NM_000143.4(FH):c.578C>T (p.Thr193Ile)2271FHUncertain significancers1573883332RCV000801100; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672063241672063GA1:g.241672063G>A-
NM_000143.4(FH):c.577A>G (p.Thr193Ala)2271FHUncertain significance-1RCV001914817; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672064241672064TC241672064-
NM_000143.4(FH):c.576C>A (p.Pro192=)2271FHLikely benign-1RCV001444329; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672065241672065GT241672065-
NM_000143.4(FH):c.576C>G (p.Pro192=)2271FHLikely benign-1RCV001462647; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672065241672065GC241672065-
NM_000143.4(FH):c.575C>T (p.Pro192Leu)2271FHLikely pathogenicrs1573883342RCV001024493|RCV001068978; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672066241672066GA1:g.241672066G>A-
NM_000143.4(FH):c.574C>T (p.Pro192Ser)2271FHConflicting interpretations of pathogenicityrs1573883345RCV001024482|RCV001098959|RCV001100768; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672067241672067GA1:g.241672067G>A-
NM_000143.4(FH):c.574C>G (p.Pro192Ala)2271FHLikely pathogenic-1RCV002026015; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672067241672067GC241672067-
NM_000143.4(FH):c.568_569del (p.Thr190fs)2271FHPathogenicrs1553341367RCV000635313|RCV001024403; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241672072241672073AGTA1:g.241672072_241672073delClinGen:CA658795647C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.569C>T (p.Thr190Ile)2271FHUncertain significance-1RCV001927894; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672072241672072GA241672072-
NM_000143.4(FH):c.567T>C (p.Asp189=)2271FHLikely benign-1RCV002210452; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672074241672074AG241672074-
NM_000143.4(FH):c.563A>T (p.Asn188Ile)2271FHLikely pathogenic-1RCV001376949; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672078241672078TA241672078-
NM_000143.4(FH):c.556-3_562del2271FHPathogenicrs1659999374RCV001062734; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672079241672088TTTGAGCTCTGT1:g.241672079_241672088del-
NM_000143.4(FH):c.560C>G (p.Ser187Ter)2271FHPathogenicrs398123166RCV000078150|RCV000445585|RCV000554655|RCV001024322; NMedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241672081241672081GC1:g.241672081G>CClinGen:CA220384C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.560C>T (p.Ser187Leu)2271FHConflicting interpretations of pathogenicityrs398123166RCV000445604|RCV000492920|RCV000800258; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672081241672081GANC_000001.10:g.241672081G>AClinGen:CA1478650C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.560C>A (p.Ser187Ter)2271FHPathogenicrs398123166RCV000473262|RCV001782935; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241672081241672081GTNC_000001.10:g.241672081G>TClinGen:CA16610114C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.558C>T (p.Ser186=)2271FHLikely benign-1RCV001456943; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672083241672083GA241672083-
NM_000143.4(FH):c.557G>A (p.Ser186Asn)2271FHLikely pathogenicrs587782618RCV000131997|RCV001029752|RCV001057206; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672084241672084CT1:g.241672084C>TClinGen:CA169030C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.557del (p.Ser186fs)2271FHPathogenicrs1659999781RCV001211854; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672084241672084GCG1:g.241672084_241672084del-
NM_000143.4(FH):c.556-2A>T2271FHPathogenic/Likely pathogenicrs750273092RCV000445615|RCV001058832|RCV001561083; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241672087241672087TANC_000001.10:g.241672087T>AClinGen:CA1478651C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.556-2A>G2271FHLikely pathogenicrs750273092RCV000706535; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672087241672087TC1:g.241672087T>C-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.556-4A>G2271FHUncertain significancers370229813RCV000475091|RCV001024280|RCV001569283; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241672089241672089TCNC_000001.10:g.241672089T>CClinGen:CA1478652C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.556-5A>G2271FHUncertain significancers1060500892RCV000461933; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672090241672090TCNC_000001.10:g.241672090T>CClinGen:CA16610043C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.556-6C>T2271FHLikely benign-1RCV001487030; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672091241672091GA241672091-
NM_000143.4(FH):c.556-7C>T2271FHLikely benignrs780483420RCV000635324; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672092241672092GA1:g.241672092G>AClinGen:CA1478653C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.556-12A>C2271FHLikely benign-1RCV002103979; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241672097241672097TG241672097-
NM_000143.4(FH):c.555+20T>C2271FHLikely benign-1RCV002133330; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675247241675247AG241675247-
NM_000143.4(FH):c.555+17T>C2271FHLikely benign-1RCV002162153; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675250241675250AG241675250-
NM_000143.4(FH):c.555+11G>A2271FHLikely benign-1RCV002110517; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675256241675256CT241675256-
NM_000143.4(FH):c.555+9G>T2271FHLikely benign-1RCV002076473; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675258241675258CA241675258-
NM_000143.4(FH):c.532_555+7del2271FHPathogenic-1RCV001972746; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675260241675290ATACTGACCTGGCTTTTATTAACATGATCGTTA241675259-
NM_000143.4(FH):c.555+4A>G2271FHUncertain significancers776240700RCV000692469|RCV001024262|RCV001771957; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241675263241675263TCNC_000001.10:g.241675263T>C-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.555+3del2271FHUncertain significancers1553341583RCV000524909; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675264241675264TGT1:g.241675264_241675264delClinGen:CA658657001C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.555+3C>A2271FHUncertain significancers1660094654RCV001060328; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675264241675264GT1:g.241675264G>T-
NM_000143.4(FH):c.555G>T (p.Gln185His)2271FHUncertain significancers1660094798RCV001206935; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675267241675267CA1:g.241675267C>A-
NM_000143.4(FH):c.554A>G (p.Gln185Arg)2271FHPathogenic/Likely pathogenicrs779707997RCV000196456|RCV000445603|RCV000494490|RCV000550345; NMedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675268241675268TC1:g.241675268T>CClinGen:CA320867,UniProtKB:P07954#VAR_013500C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.553_554insTG (p.Gln185fs)2271FHPathogenicrs768182640RCV000445584|RCV000486167|RCV000572356|RCV000799643; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675268241675269TTCANC_000001.10:g.241675268_241675269insCAClinGen:CA1478668C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.554A>C (p.Gln185Pro)2271FHUncertain significancers779707997RCV000696109; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675268241675268TGNC_000001.10:g.241675268T>G-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.552C>T (p.Ser184=)2271FHLikely benignrs377660762RCV000540139|RCV001024233|RCV001613345; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241675270241675270GA1:g.241675270G>AClinGen:CA1478669C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.552C>G (p.Ser184Arg)2271FHUncertain significancers377660762RCV000705532; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675270241675270GC1:g.241675270G>C-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.551G>C (p.Ser184Thr)2271FHUncertain significancers750316531RCV001052045; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675271241675271CG1:g.241675271C>G-
NM_000143.4(FH):c.547A>G (p.Lys183Glu)2271FHUncertain significance-1RCV001967821; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675275241675275TC241675275-
NM_000143.4(FH):c.545A>G (p.Asn182Ser)2271FHUncertain significancers1558400468RCV000691760; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675277241675277TC1:g.241675277T>C-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.543T>C (p.Val181=)2271FHLikely benign-1RCV001392920; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675279241675279AG241675279-
NM_000143.4(FH):c.540T>C (p.His180=)2271FHLikely benignrs766280573RCV000525144|RCV001024060|RCV001567578; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241675282241675282AG1:g.241675282A>GClinGen:CA1478672C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.539A>G (p.His180Arg)2271FHConflicting interpretations of pathogenicityrs863224015RCV000493387|RCV001052054|RCV001781575; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241675283241675283TC1:g.241675283T>CClinGen:CA324566,UniProtKB:P07954#VAR_013499C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.539A>T (p.His180Leu)2271FHLikely pathogenic-1RCV002040235; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675283241675283TA241675283-
NM_000143.4(FH):c.536A>G (p.Asp179Gly)2271FHUncertain significance-1RCV002048307; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675286241675286TC241675286-
NM_000143.4(FH):c.535G>A (p.Asp179Asn)2271FHUncertain significancers1553341588RCV000551411|RCV000572955; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241675287241675287CT1:g.241675287C>TClinGen:CA345439887C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.535G>T (p.Asp179Tyr)2271FHUncertain significancers1553341588RCV001337795; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675287241675287CA241675287-
NM_000143.4(FH):c.534C>T (p.Asn178=)2271FHLikely benignrs375878939RCV000165460|RCV001394413; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675288241675288GA1:g.241675288G>AClinGen:CA193456C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.534C>A (p.Asn178Lys)2271FHUncertain significance-1RCV001993461; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675288241675288GT241675288-
NM_000143.4(FH):c.531C>G (p.Pro177=)2271FHLikely benignrs202056137RCV000536941; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675291241675291GC1:g.241675291G>CClinGen:CA40331824C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.530C>G (p.Pro177Arg)2271FHLikely pathogenic-1RCV002030388; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675292241675292GC241675292-
NM_000143.4(FH):c.527A>G (p.His176Arg)2271FHConflicting interpretations of pathogenicityrs1158759883RCV000498190|RCV001196074; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675295241675295TC1:g.241675295T>CClinGen:CA345439904CN517202 not provided;
NM_000143.4(FH):c.525G>A (p.Val175=)2271FHLikely benignrs1553341592RCV000558625; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675297241675297CT1:g.241675297C>TClinGen:CA424076269C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.522T>C (p.Pro174=)2271FHLikely benign-1RCV002214656; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675300241675300AG241675300-
NM_000143.4(FH):c.521C>G (p.Pro174Arg)2271FHConflicting interpretations of pathogenicityrs199822819RCV000022554|RCV000078149|RCV000353057|RCV000492836; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241675301241675301GC1:g.241675301G>COMIM:136850.0010,ClinGen:CA220381C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.521C>A (p.Pro174His)2271FHUncertain significancers199822819RCV000701542; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675301241675301GTNC_000001.10:g.241675301G>T-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.517A>T (p.Ile173Leu)2271FHUncertain significancers1558400504RCV000699131; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675305241675305TANC_000001.10:g.241675305T>A-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.515A>G (p.Lys172Arg)2271FHUncertain significance-1RCV001993516; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675307241675307TC241675307-
NM_000143.4(FH):c.514A>G (p.Lys172Glu)2271FHUncertain significancers201154463RCV000548223; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675308241675308TC1:g.241675308T>CClinGen:CA40331857C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.513C>G (p.Ser171Arg)2271FHUncertain significance-1RCV001874817; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675309241675309GC241675309-
NM_000143.4(FH):c.512G>A (p.Ser171Asn)2271FHUncertain significancers1157774951RCV001218544|RCV001780139; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241675310241675310CT1:g.241675310C>T-
NM_000143.4(FH):c.509G>A (p.Gly170Asp)2271FHUncertain significancers1573885360RCV000798651; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675313241675313CT1:g.241675313C>T-
NM_000143.4(FH):c.504del (p.Glu168fs)2271FHPathogenic/Likely pathogenicrs776190273RCV000484908|RCV001023474|RCV001390188; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675318241675318GTG1:g.241675318_241675318delClinGen:CA1478674CN517202 not provided;
NM_000143.4(FH):c.502G>C (p.Glu168Gln)2271FHUncertain significancers1573885382RCV000797381; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675320241675320CG1:g.241675320C>G-
NM_000143.4(FH):c.500G>T (p.Gly167Val)2271FHUncertain significancers1558400520RCV000702720; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675322241675322CANC_000001.10:g.241675322C>A-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.495AGG[1] (p.Gly167del)2271FHUncertain significancers1660097679RCV001309932; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675322241675324ACCTA241675321-
NM_000143.4(FH):c.498A>G (p.Gly166=)2271FHLikely benign-1RCV001446813; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675324241675324TC241675324-
NM_000143.4(FH):c.497G>A (p.Gly166Glu)2271FHUncertain significancers746612719RCV000686478; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675325241675325CTNC_000001.10:g.241675325C>T-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.496G>A (p.Gly166Arg)2271FHUncertain significancers1660097824RCV001232189; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675326241675326CT1:g.241675326C>T-
NM_000143.4(FH):c.492G>C (p.Met164Ile)2271FHUncertain significancers1370195868RCV001324223; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675330241675330CG241675330-
NM_000143.4(FH):c.490A>G (p.Met164Val)2271FHUncertain significance-1RCV001992954; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675332241675332TC241675332-
NM_000143.4(FH):c.484del (p.Ile162fs)2271FHPathogenicrs1660098180RCV001203816; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675338241675338ATA1:g.241675338_241675338del-
NM_000143.4(FH):c.484A>G (p.Ile162Val)2271FHUncertain significance-1RCV001917348; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675338241675338TC241675338-
NM_000143.4(FH):c.482C>T (p.Ala161Val)2271FHUncertain significance-1RCV001883712; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675340241675340GA241675340-
NM_000143.4(FH):c.481G>A (p.Ala161Thr)2271FHUncertain significancers1573885421RCV001023109|RCV001209314; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675341241675341CT1:g.241675341C>T-
NM_000143.4(FH):c.480A>G (p.Arg160=)2271FHLikely benign-1RCV001460991; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675342241675342TC241675342-
NM_000143.4(FH):c.478A>G (p.Arg160Gly)2271FHPathogenic/Likely pathogenicrs878853694RCV000226234|RCV001023046|RCV001782719; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241675344241675344TC1:g.241675344T>CClinGen:CA10581784C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.477T>C (p.Asn159=)2271FHLikely benignrs372913738RCV001396266|RCV001698020; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241675345241675345AG1:g.241675345A>GClinGen:CA1478676CN169374 not specified;
NM_000143.4(FH):c.473G>A (p.Ser158Asn)2271FHConflicting interpretations of pathogenicityrs1060500902RCV000464397|RCV000498842; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241675349241675349CTNC_000001.10:g.241675349C>TClinGen:CA16610060C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.473G>T (p.Ser158Ile)2271FHUncertain significancers1060500902RCV001238795; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675349241675349CA1:g.241675349C>A-
NM_000143.4(FH):c.470T>C (p.Ile157Thr)2271FHUncertain significance-1RCV002011701; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675352241675352AG241675352-
NM_000143.4(FH):c.469A>G (p.Ile157Val)2271FHUncertain significancers778399986RCV001206479; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675353241675353TC1:g.241675353T>C-
NM_000143.4(FH):c.468C>A (p.Val156=)2271FHLikely benignrs202061330RCV000214643|RCV001446115; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675354241675354GT1:g.241675354G>TClinGen:CA10577686C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.462T>G (p.Asn154Lys)2271FHLikely pathogenic-1RCV002033495; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675360241675360AC241675360-
NM_000143.4(FH):c.462T>C (p.Asn154=)2271FHLikely benign-1RCV002139897; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675360241675360AG241675360-
NM_000143.4(FH):c.460A>C (p.Asn154His)2271FHUncertain significance-1RCV001957426; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675362241675362TG241675362-
NM_000143.4(FH):c.459A>G (p.Val153=)2271FHLikely benign-1RCV001446168; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675363241675363TC241675363-
NM_000143.4(FH):c.456T>C (p.Asn152=)2271FHLikely benignrs876658403RCV000217094|RCV001447004; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675366241675366AG1:g.241675366A>GClinGen:CA10577687C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.452T>C (p.Met151Thr)2271FHUncertain significancers1660099266RCV001230001; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675370241675370AG1:g.241675370A>G-
NM_000143.4(FH):c.452T>A (p.Met151Lys)2271FHUncertain significancers1660099266RCV001235413|RCV001773530; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241675370241675370AT1:g.241675370A>T-
NM_000143.4(FH):c.451A>T (p.Met151Leu)2271FHUncertain significancers749752047RCV000802996; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675371241675371TA1:g.241675371T>A-
NM_000143.4(FH):c.450T>A (p.Asn150Lys)2271FHUncertain significancers1131691242RCV000493891|RCV001225444; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675372241675372ATNC_000001.10:g.241675372A>TClinGen:CA345440080C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.448A>G (p.Asn150Asp)2271FHUncertain significancers1660099527RCV001306792; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675374241675374TC241675374-
NM_000143.4(FH):c.448A>C (p.Asn150His)2271FHUncertain significancers1660099527RCV001343475; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675374241675374TG241675374-
NM_000143.4(FH):c.444G>A (p.Gln148=)2271FHLikely benignrs928534157RCV000544185; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675378241675378CT1:g.241675378C>TClinGen:CA40331923C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.442C>T (p.Gln148Ter)2271FHPathogenicrs1558400571RCV000701955|RCV001784340; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241675380241675380GANC_000001.10:g.241675380G>A-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.439A>G (p.Thr147Ala)2271FHPathogenicrs863223983RCV000635287; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675383241675383TC1:g.241675383T>CClinGen:CA322337C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.438A>T (p.Gly146=)2271FHUncertain significance-1RCV001365435; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675384241675384TA241675384-
NM_000143.4(FH):c.437G>A (p.Gly146Glu)2271FHConflicting interpretations of pathogenicityrs11545654RCV000166128|RCV000345017|RCV000635317; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675385241675385CT1:g.241675385C>TClinGen:CA195071C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.435A>G (p.Ser145=)2271FHLikely benign-1RCV001502300; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675387241675387TC241675387-
NM_000143.4(FH):c.434C>T (p.Ser145Leu)2271FHUncertain significancers1573885482RCV001309419; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675388241675388GA241675388-
NM_000143.4(FH):c.431G>T (p.Gly144Val)2271FHConflicting interpretations of pathogenicityrs1057521425RCV000438718|RCV001861526; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675391241675391CA1:g.241675391C>AClinGen:CA16603598CN169374 not specified;
NM_000143.4(FH):c.431del (p.Gly144fs)2271FHPathogenicrs1660100641RCV001238085; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675391241675391TCT1:g.241675391_241675391del-
NM_000143.4(FH):c.426G>A (p.Gln142=)2271FHLikely benign-1RCV001393449; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675396241675396CT241675396-
NM_000143.4(FH):c.424C>T (p.Gln142Ter)2271FHPathogenicrs1355199594RCV000798748; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675398241675398GA1:g.241675398G>A-
NM_000143.4(FH):c.424C>G (p.Gln142Glu)2271FHUncertain significancers1355199594RCV001022133|RCV001873353; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675398241675398GC1:g.241675398G>C-
NM_000143.4(FH):c.420A>G (p.Val140=)2271FHLikely benignrs1180706892RCV000529136|RCV001417908; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675402241675402TC1:g.241675402T>CClinGen:CA424076329C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.418G>C (p.Val140Leu)2271FHUncertain significancers746195750RCV000195996|RCV000821881; NMedGen:CN169374|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675404241675404CG1:g.241675404C>GClinGen:CA320385CN169374 not specified;
NM_000143.4(FH):c.418del (p.Val140fs)2271FHPathogenicrs1573885519RCV000794856; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675404241675404ACA1:g.241675404_241675404del-
NM_000143.4(FH):c.417G>A (p.Val139=)2271FHUncertain significancers768341401RCV000695240; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675405241675405CTNC_000001.10:g.241675405C>T-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.416T>G (p.Val139Gly)2271FHUncertain significancers1573885528RCV000816958; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675406241675406AC1:g.241675406A>C-
NM_000143.4(FH):c.415G>A (p.Val139Met)2271FHUncertain significancers200343823RCV000810319|RCV001021974|RCV001100769|RCV001252807|RCV001585739; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|Human Phenotype Ontology:HP:0001241675407241675407CT1:g.241675407C>T-
NM_000143.4(FH):c.415G>C (p.Val139Leu)2271FHUncertain significancers200343823RCV001344951; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675407241675407CG241675407-
NM_000143.4(FH):c.414C>T (p.Leu138=)2271FHLikely benignrs540968725RCV000908521|RCV001021952; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241675408241675408GA1:g.241675408G>A-
NM_000143.4(FH):c.414C>G (p.Leu138=)2271FHLikely benign-1RCV002148461; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675408241675408GC241675408-
NM_000143.4(FH):c.412C>G (p.Leu138Val)2271FHUncertain significancers1466082062RCV000559902|RCV000561208; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241675410241675410GC1:g.241675410G>CClinGen:CA16621976C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.410C>T (p.Pro137Leu)2271FHUncertain significancers1660101853RCV001215674|RCV001760194; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241675412241675412GA1:g.241675412G>A-
NM_000143.4(FH):c.410C>G (p.Pro137Arg)2271FHUncertain significancers1660101853RCV001213376; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675412241675412GC1:g.241675412G>C-
NM_000143.4(FH):c.405T>G (p.His135Gln)2271FHUncertain significancers1298815479RCV001209597|RCV001751383; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241675417241675417AC1:g.241675417A>C-
NM_000143.4(FH):c.404A>G (p.His135Arg)2271FHConflicting interpretations of pathogenicityrs786202833RCV000165850|RCV000691998|RCV001557300; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241675418241675418TC1:g.241675418T>CClinGen:CA194346C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.404A>C (p.His135Pro)2271FHUncertain significancers786202833RCV000545534; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675418241675418TG1:g.241675418T>GClinGen:CA345440176C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer)2271FHPathogenicrs863223995RCV000195662|RCV000445600|RCV001208788; NMedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675423241675427CATTTAC1:g.241675423_241675427delClinGen:CA320029C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.399T>C (p.Asn133=)2271FHLikely benignrs376056309RCV000461930|RCV000563998|RCV001554936; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241675423241675423AGNC_000001.10:g.241675423A>GClinGen:CA1478686C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.393A>T (p.Lys131Asn)2271FHUncertain significance-1RCV001998516; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675429241675429TA241675429-
NM_000143.4(FH):c.382G>A (p.Ala128Thr)2271FHUncertain significancers1553341620RCV000530788|RCV000765097; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24; Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241675440241675440CT1:g.241675440C>TClinGen:CA345440227C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.379G>T (p.Val127Leu)2271FHUncertain significancers878853693RCV000232407; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675443241675443CANC_000001.10:g.241675443C>AClinGen:CA10581785C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.379-1G>A2271FHPathogenicrs1553341623RCV000552212|RCV001783039; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241675444241675444CT1:g.241675444C>TClinGen:CA345440237C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.379-1G>C2271FHLikely pathogenicrs1553341623RCV001066090; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675444241675444CG1:g.241675444C>G-
NM_000143.4(FH):c.379-4G>A2271FHLikely benign-1RCV002079057; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675447241675447CT241675447-
NM_000143.4(FH):c.379-7dup2271FHBenignrs761444069RCV000635328; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675449241675450GGANC_000001.10:g.241675455dupClinGen:CA1478689C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.379-10T>G2271FHLikely benignrs201020261RCV000542020|RCV001409057; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675453241675453AC1:g.241675453A>CClinGen:CA40331994C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.379-15A>T2271FHConflicting interpretations of pathogenicityrs374529177RCV000321597|RCV000360971|RCV000436971; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN1693741241675458241675458TANC_000001.10:g.241675458T>AClinGen:CA1478691C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.379-16A>T2271FHLikely benign-1RCV002077005; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675459241675459TA241675459-
NM_000143.4(FH):c.379-17dup2271FHBenign-1RCV002132377; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241675459241675460TTA241675459-
NM_000143.4(FH):c.378+17G>A2271FHLikely benign-1RCV002129405; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676886241676886CT241676886-
NM_000143.4(FH):c.378+15G>A2271FHLikely benign-1RCV002112169; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676888241676888CT241676888-
NM_000143.4(FH):c.378+12T>C2271FHLikely benign-1RCV002139821; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676891241676891AG241676891-
NM_000143.4(FH):c.378+12del2271FHLikely benign-1RCV002175367; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676891241676891TAT241676890-
NM_000143.4(FH):c.378+10G>A2271FHLikely benign-1RCV002139396; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676893241676893CT241676893-
NM_000143.4(FH):c.378+8G>C2271FHLikely benignrs1573886359RCV000939150; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676895241676895CG1:g.241676895C>G-
NM_000143.4(FH):c.378+8G>A2271FHLikely benignrs1573886359RCV000931677|RCV001458738; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676895241676895CT1:g.241676895C>T-
NM_000143.4(FH):c.378+7G>A2271FHLikely benign-1RCV002135171; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676896241676896CT241676896-
NM_000143.4(FH):c.378+6A>G2271FHUncertain significancers1348359637RCV001050463; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676897241676897TC1:g.241676897T>C-
NM_000143.4(FH):c.378+5G>A2271FHUncertain significancers1660143514RCV001236200; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676898241676898CT1:g.241676898C>T-
NM_000143.4(FH):c.378+4G>A2271FHUncertain significance-1RCV001879456; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676899241676899CT241676899-
NM_000143.4(FH):c.378+1G>A2271FHLikely pathogenicrs1660143675RCV001230427; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676902241676902CT1:g.241676902C>T-
NM_000143.4(FH):c.376G>T (p.Glu126Ter)2271FHPathogenicrs1660143834RCV001043153; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676905241676905CA1:g.241676905C>A-
NM_000143.4(FH):c.375T>C (p.Asp125=)2271FHLikely benign-1RCV001476106; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676906241676906AG241676906-
NM_000143.4(FH):c.373G>C (p.Asp125His)2271FHUncertain significance-1RCV002036795; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676908241676908CG241676908-
NM_000143.4(FH):c.370G>A (p.Ala124Thr)2271FHUncertain significancers1660143983RCV001297602; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676911241676911CT241676911-
NM_000143.4(FH):c.370G>C (p.Ala124Pro)2271FHUncertain significance-1RCV002001408; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676911241676911CG241676911-
NM_000143.4(FH):c.367G>C (p.Ala123Pro)2271FHUncertain significancers1660144128RCV001327400; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676914241676914CG241676914-
NM_000143.4(FH):c.366G>A (p.Lys122=)2271FHLikely benignrs1573886379RCV001020848|RCV001502711; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676915241676915CT1:g.241676915C>T-
NM_000143.4(FH):c.358A>G (p.Ile120Val)2271FHConflicting interpretations of pathogenicityrs199641124RCV000166997|RCV000469505|RCV001101030; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241676923241676923TC1:g.241676923T>CClinGen:CA197225C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.358A>C (p.Ile120Leu)2271FHUncertain significance-1RCV001884682; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676923241676923TG241676923-
NM_000143.4(FH):c.357A>C (p.Ala119=)2271FHLikely benignrs767209674RCV000218878|RCV000461347; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676924241676924TG1:g.241676924T>GClinGen:CA1478710C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.356C>T (p.Ala119Val)2271FHUncertain significancers1395827785RCV000806002; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676925241676925GA1:g.241676925G>A-
NM_000143.4(FH):c.354T>C (p.Asn118=)2271FHLikely benignrs1465574376RCV000870330|RCV001453284; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676927241676927AG1:g.241676927A>G-
NM_000143.4(FH):c.354T>G (p.Asn118Lys)2271FHUncertain significance-1RCV002017532; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676927241676927AC241676927-
NM_000143.4(FH):c.353del (p.Asn118fs)2271FHPathogenicrs1558401064RCV000698823|RCV001020556; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241676928241676928ATANC_000001.10:g.241676929del-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.352A>G (p.Asn118Asp)2271FHUncertain significancers200738857RCV000808925|RCV001020531; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241676929241676929TC1:g.241676929T>C-
NM_000143.4(FH):c.349G>C (p.Ala117Pro)2271FHPathogenic/Likely pathogenicrs886039363RCV000255340|RCV001020456|RCV001228346; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676932241676932CG1:g.241676932C>GClinGen:CA10588292,UniProtKB:P07954#VAR_013498CN517202 not provided;
NM_000143.4(FH):c.346A>T (p.Ile116Phe)2271FHConflicting interpretations of pathogenicityrs201532589RCV000034484|RCV000463959|RCV000575301|RCV001101031; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241676935241676935TA1:g.241676935T>AClinGen:CA215560C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.344del (p.Lys115fs)2271FHPathogenicrs1573886415RCV000818841; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676937241676937CTC1:g.241676937_241676937del-
NM_000143.4(FH):c.340C>A (p.Pro114Thr)2271FHUncertain significancers199539887RCV001327665; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676941241676941GT241676941-
NM_000143.4(FH):c.339T>A (p.Asp113Glu)2271FHUncertain significancers1029743950RCV000821202; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676942241676942AT1:g.241676942A>T-
NM_000143.4(FH):c.332G>A (p.Gly111Asp)2271FHUncertain significancers764340490RCV001071788; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676949241676949CT1:g.241676949C>T-
NM_000143.4(FH):c.330T>C (p.Tyr110=)2271FHLikely benign-1RCV001502391; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676951241676951AG241676951-
NM_000143.4(FH):c.327T>G (p.Asp109Glu)2271FHUncertain significancers757312078RCV000820876|RCV001766737; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241676954241676954AC1:g.241676954A>C-
NM_000143.4(FH):c.326A>T (p.Asp109Val)2271FHUncertain significancers1573886432RCV001019537|RCV001241725; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676955241676955TA1:g.241676955T>A-
NM_000143.4(FH):c.320A>C (p.Asn107Thr)2271FHPathogenic/Likely pathogenicrs121913121RCV000017620|RCV000078148|RCV000493777|RCV000813168; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676961241676961TG1:g.241676961T>GClinGen:CA257456,UniProtKB:P07954#VAR_013497,OMIM:136850.0004C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.301_319del (p.Arg101fs)2271FHPathogenicrs1558401094RCV000689769|RCV001018055; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241676962241676980TTTACTTCAGCGGCCGCTCGT1:g.241676962_241676980del-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.318A>G (p.Val106=)2271FHLikely benign-1RCV002095055; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676963241676963TC241676963-
NM_000143.4(FH):c.317T>C (p.Val106Ala)2271FHUncertain significancers1382226356RCV001019019|RCV001766846|RCV001832344; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676964241676964AG1:g.241676964A>G-
NM_000143.4(FH):c.316del (p.Glu105_Val106insTer)2271FHPathogenicrs876658569RCV000213630|RCV000275674|RCV001051735; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676965241676965ACA1:g.241676965_241676965delClinGen:CA10577688C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.312T>C (p.Ala104=)2271FHLikely benignrs1311053776RCV000840848|RCV001415202; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676969241676969AG1:g.241676969A>G-
NM_000143.4(FH):c.310G>A (p.Ala104Thr)2271FHUncertain significancers1303488878RCV001043329; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676971241676971CT1:g.241676971C>T-
NM_000143.4(FH):c.309C>T (p.Ala103=)2271FHBenignrs10926501RCV000125106|RCV000163273|RCV000327050|RCV000383130|RCV000588869; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241676972241676972GA1:g.241676972G>AClinGen:CA187885C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.309C>A (p.Ala103=)2271FHLikely benign-1RCV002159955; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676972241676972GT241676972-
NM_000143.4(FH):c.308C>T (p.Ala103Val)2271FHUncertain significancers1256116208RCV001018556|RCV001036166|RCV001772194; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241676973241676973GA1:g.241676973G>A-
NM_000143.4(FH):c.306G>A (p.Ala102=)2271FHBenign/Likely benignrs142283468RCV000531005|RCV000571296|RCV001704667; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241676975241676975CT1:g.241676975C>TClinGen:CA1478715C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.305C>T (p.Ala102Val)2271FHConflicting interpretations of pathogenicityrs61753295RCV000165037|RCV000349307|RCV000388495|RCV001582651; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241676976241676976GA1:g.241676976G>AClinGen:CA192361C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.302G>A (p.Arg101Gln)2271FHUncertain significancers75086406RCV000466487|RCV001018184|RCV001546164; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241676979241676979CTNC_000001.10:g.241676979C>TClinGen:CA1478716C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.301C>T (p.Arg101Ter)2271FHPathogenicrs121913120RCV000017619|RCV000130873|RCV000199330|RCV000515176; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676980241676980GA1:g.241676980G>AClinGen:CA167288,OMIM:136850.0003C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.294C>G (p.Ile98Met)2271FHUncertain significancers1573886484RCV001017627|RCV001274350; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676987241676987GC1:g.241676987G>C-
NM_000143.4(FH):c.292A>G (p.Ile98Val)2271FHUncertain significancers1660147766RCV001347634; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676989241676989TC241676989-
NM_000143.4(FH):c.289G>C (p.Gly97Arg)2271FHUncertain significancers1660147877RCV001071404; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676992241676992CG1:g.241676992C>G-
NM_000143.4(FH):c.288T>C (p.Phe96=)2271FHLikely benignrs747348623RCV000469311; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676993241676993AGNC_000001.10:g.241676993A>GClinGen:CA1478717C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.288del (p.Phe96fs)2271FHPathogenic-1RCV001922635; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676993241676993CAC241676992-
NM_000143.4(FH):c.285T>C (p.Ala95=)2271FHLikely benignrs973577283RCV000935717|RCV001462228; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676996241676996AG1:g.241676996A>G-
NM_000143.4(FH):c.284C>T (p.Ala95Val)2271FHUncertain significancers1660148115RCV001320190; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241676997241676997GA241676997-
NM_000143.4(FH):c.278T>C (p.Ile93Thr)2271FHUncertain significancers1660148233RCV001048614; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241677003241677003AG1:g.241677003A>G-
NM_000143.4(FH):c.272C>T (p.Pro91Leu)2271FHUncertain significancers1455612736RCV001216850; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241677009241677009GA1:g.241677009G>A-
NM_000143.4(FH):c.271C>G (p.Pro91Ala)2271FHUncertain significance-1RCV002010185; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241677010241677010GC241677010-
NM_000143.4(FH):c.270C>G (p.Thr90=)2271FHLikely benignrs748852152RCV000222097|RCV001396829; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241677011241677011GC1:g.241677011G>CClinGen:CA10577689C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.270C>T (p.Thr90=)2271FHBenign/Likely benignrs748852152RCV000464548|RCV001536826|RCV001821317; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN517202|MedGen:CN1693741241677011241677011GANC_000001.10:g.241677011G>AClinGen:CA1478720C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.269C>T (p.Thr90Ile)2271FHUncertain significancers1401508226RCV000792494; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241677012241677012GA1:g.241677012G>A-
NM_000143.4(FH):c.268-2A>G2271FHPathogenicrs1064793741RCV000487137|RCV001390078; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241677015241677015TC1:g.241677015T>CClinGen:CA16617119CN517202 not provided;
NM_000143.4(FH):c.268-3_268-2del2271FHLikely pathogenic-1RCV002035701; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241677015241677016CTAC241677014-
NM_000143.4(FH):c.268-21_268-8del2271FHUncertain significance-1RCV002019190; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241677021241677034TTAATCAGAAAAATAT241677020-
NM_000143.4(FH):c.268-15del2271FHBenign-1RCV002088754; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241677028241677028GAG241677027-
NM_000143.4(FH):c.268-18T>A2271FHLikely benign-1RCV002096079; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241677031241677031AT241677031-
NC_000001.10:g.(?_241677041)_(241680477_?)del2271FHUncertain significance-1RCV001966094; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241677041241680477nana-1-
NM_000143.4(FH):c.267+1_267+10del2271FHPathogenicrs1060499629RCV000445611|RCV001861648; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680472241680481ATGCCACTTACANC_000001.10:g.241680474_241680483delClinGen:CA16609378C1708350 150800 Multiple cutaneous leiomyomas;
NC_000001.11:g.(?_241517172)_(241519722_?)dup2271FHUncertain significance-1RCV001031986; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680472241683022nana-1-
NC_000001.10:g.(?_241680472)_(241683022_?)del2271FHPathogenic-1RCV001960706; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680472241683022nana-1-
NM_000143.4(FH):c.267+8G>A2271FHLikely benignrs750447887RCV000919766; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680474241680474CT1:g.241680474C>T-
NM_000143.4(FH):c.267+7G>A2271FHLikely benign-1RCV001432481; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680475241680475CT241680475-
NM_000143.4(FH):c.267+1G>C2271FHPathogenicrs878853691RCV000231447|RCV000445634|RCV001782718; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241680481241680481CG1:g.241680481C>GClinGen:CA10581786C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.267+1G>A2271FHPathogenicrs878853691RCV000467593|RCV001782933; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241680481241680481CTNC_000001.10:g.241680481C>TClinGen:CA16610064C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.267+1G>T2271FHPathogenic-1RCV001385015; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680481241680481CA241680481-
NM_000143.4(FH):c.267A>C (p.Pro89=)2271FHConflicting interpretations of pathogenicityrs1060500897RCV000460741|RCV000616079|RCV001016292; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241680482241680482TGNC_000001.10:g.241680482T>GClinGen:CA16610087C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.267A>G (p.Pro89=)2271FHUncertain significancers1060500897RCV001064568; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680482241680482TC1:g.241680482T>C-
NM_000143.4(FH):c.264G>C (p.Met88Ile)2271FHUncertain significance-1RCV002010635; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680485241680485CG241680485-
NM_000143.4(FH):c.262A>C (p.Met88Leu)2271FHUncertain significancers1660240175RCV001233097; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680487241680487TG1:g.241680487T>G-
NM_000143.4(FH):c.260G>A (p.Arg87His)2271FHUncertain significancers200007371RCV001016095|RCV001051373; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680489241680489CT1:g.241680489C>T-
NM_000143.4(FH):c.260G>T (p.Arg87Leu)2271FHUncertain significancers200007371RCV001223754; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680489241680489CA1:g.241680489C>A-
NM_000143.4(FH):c.259C>T (p.Arg87Cys)2271FHUncertain significancers139642944RCV000467729|RCV000568361|RCV001530785; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241680490241680490GANC_000001.10:g.241680490G>AClinGen:CA1478738C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.255A>G (p.Thr85=)2271FHLikely benign-1RCV002149015; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680494241680494TC241680494-
NM_000143.4(FH):c.254C>G (p.Thr85Arg)2271FHUncertain significancers1324632356RCV001322322; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680495241680495GC241680495-
NM_000143.4(FH):c.252G>A (p.Val84=)2271FHLikely benign-1RCV002167418; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680497241680497CT241680497-
NM_000143.4(FH):c.251T>C (p.Val84Ala)2271FHUncertain significancers878853692RCV000229267|RCV000765098; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24; Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241680498241680498AG1:g.241680498A>GClinGen:CA10581787C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.249T>A (p.Gly83=)2271FHLikely benign-1RCV002156878; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680500241680500AT241680500-
NM_000143.4(FH):c.245G>A (p.Gly82Glu)2271FHUncertain significancers1558402197RCV000704582; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680504241680504CT1:g.241680504C>T-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.243T>A (p.Ile81=)2271FHLikely benign-1RCV002096766; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680506241680506AT241680506-
NM_000143.4(FH):c.239dup (p.Ile81fs)2271FHPathogenicrs1553341942RCV000445591|RCV000486885|RCV000493657|RCV000635285; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680509241680510CCTNC_000001.10:g.241680511dupClinGen:CA16609379C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.240G>A (p.Lys80=)2271FHLikely benignrs1573888362RCV001015442|RCV002068908; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680509241680509CT1:g.241680509C>T-
NM_000143.4(FH):c.240G>C (p.Lys80Asn)2271FHUncertain significancers1573888362RCV001233377; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680509241680509CG1:g.241680509C>G-
NM_000143.4(FH):c.239A>C (p.Lys80Thr)2271FHUncertain significancers1660241142RCV001326221; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680510241680510TG241680510-
NM_000143.4(FH):c.237dup (p.Lys80Ter)2271FHPathogenicrs1553341945RCV000567476|RCV001055059; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680511241680512TTANC_000001.10:g.241680514dupClinGen:CA658657002C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.234C>A (p.Asn78Lys)2271FHUncertain significancers993218685RCV001015256|RCV001340608; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680515241680515GT1:g.241680515G>T-
NM_000143.4(FH):c.232A>C (p.Asn78His)2271FHUncertain significancers1558402209RCV000699354; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680517241680517TGNC_000001.10:g.241680517T>G-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.230T>C (p.Met77Thr)2271FHUncertain significancers1250096728RCV000817029; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680519241680519AG1:g.241680519A>G-
NM_000143.4(FH):c.228G>A (p.Thr76=)2271FHLikely benignrs373586584RCV000527779; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680521241680521CT1:g.241680521C>TClinGen:CA1478744C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.228G>C (p.Thr76=)2271FHLikely benignrs373586584RCV000635325|RCV001015081; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241680521241680521CG1:g.241680521C>GClinGen:CA1478743C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.228G>T (p.Thr76=)2271FHLikely benignrs373586584RCV000914687; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680521241680521CA1:g.241680521C>A-
NM_000143.4(FH):c.227C>T (p.Thr76Met)2271FHUncertain significancers778578307RCV000796492; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680522241680522GA1:g.241680522G>A-
NM_000143.4(FH):c.222A>T (p.Arg74Ser)2271FHUncertain significancers146739519RCV000571616|RCV000635311; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680527241680527TA1:g.241680527T>AClinGen:CA1478746C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.221G>A (p.Arg74Lys)2271FHPathogenic-1RCV001890419; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680528241680528CT241680528-
NM_000143.4(FH):c.219G>A (p.Val73=)2271FHConflicting interpretations of pathogenicity-1RCV001505509|RCV001751779; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241680530241680530CT241680530-
NM_000143.4(FH):c.217G>A (p.Val73Met)2271FHUncertain significancers201878591RCV000163293|RCV000467508|RCV001532106; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241680532241680532CT1:g.241680532C>TClinGen:CA187930C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.216C>T (p.Thr72=)2271FHLikely benignrs1341995835RCV000878842; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680533241680533GA1:g.241680533G>A-
NM_000143.4(FH):c.215C>A (p.Thr72Asn)2271FHUncertain significance-1RCV002038282; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680534241680534GT241680534-
NM_000143.4(FH):c.214A>C (p.Thr72Pro)2271FHConflicting interpretations of pathogenicityrs886039362RCV000254803|RCV001062945; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680535241680535TG1:g.241680535T>GClinGen:CA10588293CN169374 not specified;
NM_000143.4(FH):c.210C>T (p.Ala70=)2271FHLikely benignrs1573888428RCV000864550; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680539241680539GA1:g.241680539G>A-
NM_000143.4(FH):c.209C>T (p.Ala70Val)2271FHUncertain significancers1573888433RCV000804160; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680540241680540GA1:g.241680540G>A-
NM_000143.4(FH):c.208G>A (p.Ala70Thr)2271FHConflicting interpretations of pathogenicityrs587782207RCV000130874|RCV000200494|RCV000462728; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680541241680541CT1:g.241680541C>TClinGen:CA167291C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.207C>T (p.Gly69=)2271FHLikely benignrs370392829RCV000457757|RCV000562985|RCV001584138; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241680542241680542GANC_000001.10:g.241680542G>AClinGen:CA1478748C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.207C>G (p.Gly69=)2271FHLikely benignrs370392829RCV000933873|RCV001395822; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680542241680542GC1:g.241680542G>C-
NM_000143.4(FH):c.206G>A (p.Gly69Asp)2271FHUncertain significancers1660243078RCV001308769; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680543241680543CT241680543-
NM_000143.4(FH):c.204T>A (p.Tyr68Ter)2271FHPathogenicrs1060500883RCV000468176|RCV000493845|RCV001782930; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241680545241680545ATNC_000001.10:g.241680545A>TClinGen:CA16610089C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.204T>C (p.Tyr68=)2271FHLikely benign-1RCV001429511; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680545241680545AG241680545-
NM_000143.4(FH):c.203A>G (p.Tyr68Cys)2271FHUncertain significance-1RCV001370748|RCV001762647; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241680546241680546TC241680546-
NM_000143.4(FH):c.201T>G (p.Tyr67Ter)2271FHPathogenicrs1558402241RCV000699083|RCV001784335; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241680548241680548ACNC_000001.10:g.241680548A>C-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.199T>G (p.Tyr67Asp)2271FHUncertain significancers1660243497RCV001245493; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680550241680550AC1:g.241680550A>C-
NM_000143.4(FH):c.198G>A (p.Lys66=)2271FHLikely benign-1RCV002163418; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680551241680551CT241680551-
NM_000143.4(FH):c.194A>G (p.Asp65Gly)2271FHLikely pathogenicrs145116688RCV000197441|RCV000456662|RCV001013787; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241680555241680555TC1:g.241680555T>CClinGen:CA321905C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.194A>T (p.Asp65Val)2271FHUncertain significancers145116688RCV000574732|RCV000685703; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680555241680555TA1:g.241680555T>AClinGen:CA40335952C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.193G>A (p.Asp65Asn)2271FHUncertain significancers769956664RCV000549382; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680556241680556CT1:g.241680556C>TClinGen:CA1478750C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.193G>T (p.Asp65Tyr)2271FHUncertain significancers769956664RCV001057944; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680556241680556CA1:g.241680556C>A-
NM_000143.4(FH):c.190A>G (p.Asn64Asp)2271FHUncertain significancers886046319RCV000338926|RCV000387476|RCV000570874; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241680559241680559TCNC_000001.10:g.241680559T>CClinGen:CA10609927C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.185_188dup (p.Asn64fs)2271FHPathogenicrs1558402255RCV000707473; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680560241680561TTGGCANC_000001.10:g.241680561_241680564dup-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.189A>C (p.Pro63=)2271FHLikely benign-1RCV001465184; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680560241680560TG241680560-
NM_000143.4(FH):c.187C>T (p.Pro63Ser)2271FHUncertain significancers1573888488RCV000793184; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680562241680562GA1:g.241680562G>A-
NM_000143.4(FH):c.184G>A (p.Val62Met)2271FHUncertain significancers199894369RCV001350232; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680565241680565CT241680565-
NM_000143.4(FH):c.183G>C (p.Lys61Asn)2271FHUncertain significancers766840026RCV001234315; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680566241680566CG1:g.241680566C>G-
NM_000143.4(FH):c.183G>A (p.Lys61=)2271FHLikely benign-1RCV002081346; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680566241680566CT241680566-
NM_000143.4(FH):c.181A>C (p.Lys61Gln)2271FHUncertain significancers1660244612RCV001230326; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680568241680568TG1:g.241680568T>G-
NM_000143.4(FH):c.180A>G (p.Leu60=)2271FHLikely benignrs1573888502RCV000841456|RCV002067534; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680569241680569TC1:g.241680569T>C-
NM_000143.4(FH):c.174_177dup (p.Leu60Ter)2271FHPathogenicrs1131691246RCV000494321|RCV000705276; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680571241680572GGTTCANC_000001.10:g.241680572_241680575dupClinGen:CA645369175C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.178C>T (p.Leu60=)2271FHLikely benignrs201146499RCV000868151; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680571241680571GA1:g.241680571G>A-
NM_000143.4(FH):c.177A>G (p.Glu59=)2271FHLikely benign-1RCV001435235; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680572241680572TC241680572-
NM_000143.4(FH):c.175G>T (p.Glu59Ter)2271FHPathogenicrs1573888513RCV000807763|RCV001784432; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241680574241680574CA1:g.241680574C>A-
NM_000143.4(FH):c.172G>A (p.Gly58Ser)2271FHUncertain significancers11545659RCV000685690|RCV001012881|RCV001731888; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241680577241680577CTNC_000001.10:g.241680577C>T-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.171T>C (p.Phe57=)2271FHLikely benignrs1573888522RCV000939473|RCV001465394; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680578241680578AG1:g.241680578A>G-
NM_000143.4(FH):c.170T>C (p.Phe57Ser)2271FHUncertain significancers759884607RCV001337212; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680579241680579AG241680579-
NM_000143.4(FH):c.168C>T (p.Thr56=)2271FHLikely benign-1RCV001461327; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680581241680581GA241680581-
NM_000143.4(FH):c.167C>T (p.Thr56Ile)2271FHUncertain significancers1433872618RCV001012693|RCV001862789; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680582241680582GA1:g.241680582G>A-
NM_000143.4(FH):c.167C>G (p.Thr56Ser)2271FHUncertain significancers1433872618RCV001012692|RCV001348096; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680582241680582GC1:g.241680582G>C-
NM_000143.4(FH):c.167C>A (p.Thr56Asn)2271FHUncertain significance-1RCV001940242; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680582241680582GT241680582-
NM_000143.4(FH):c.166A>G (p.Thr56Ala)2271FHUncertain significancers1232573732RCV000635315|RCV001766358; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241680583241680583TC1:g.241680583T>CClinGen:CA345441963C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.164A>G (p.Asp55Gly)2271FHUncertain significancers1660245400RCV001231406; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680585241680585TC1:g.241680585T>C-
NM_000143.4(FH):c.163G>A (p.Asp55Asn)2271FHUncertain significancers1660245455RCV001216082; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680586241680586CT1:g.241680586C>T-
NM_000143.4(FH):c.159A>G (p.Glu53=)2271FHUncertain significancers202056884RCV001220272; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680590241680590TC1:g.241680590T>C-
NM_000143.4(FH):c.157G>A (p.Glu53Lys)2271FHUncertain significancers863224013RCV001347580; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680592241680592CT241680592-
NM_000143.4(FH):c.154A>T (p.Ile52Leu)2271FHUncertain significancers543844061RCV000565315|RCV001273185; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680595241680595TA1:g.241680595T>AClinGen:CA1478757C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.154A>G (p.Ile52Val)2271FHUncertain significancers543844061RCV001238209; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680595241680595TC1:g.241680595T>C-
NM_000143.4(FH):c.153G>A (p.Arg51=)2271FHLikely benignrs757002779RCV000539305; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680596241680596CT1:g.241680596C>TClinGen:CA1478758C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.152G>C (p.Arg51Pro)2271FHUncertain significancers976734433RCV000797723; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680597241680597CG1:g.241680597C>G-
NM_000143.4(FH):c.152G>A (p.Arg51Gln)2271FHPathogenic-1RCV001959172; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680597241680597CT241680597-
NM_000143.4(FH):c.151C>T (p.Arg51Trp)2271FHUncertain significancers778678782RCV000804384; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680598241680598GA1:g.241680598G>A-
NM_000143.4(FH):c.151C>A (p.Arg51=)2271FHUncertain significancers778678782RCV001338183; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680598241680598GT241680598-
NM_000143.4(FH):c.150C>T (p.Phe50=)2271FHLikely benign-1RCV002147190; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680599241680599GA241680599-
NM_000143.4(FH):c.148T>C (p.Phe50Leu)2271FHUncertain significance-1RCV001959823; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680601241680601AG241680601-
NM_000143.4(FH):c.143A>T (p.Asn48Ile)2271FHUncertain significance-1RCV001943609; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680606241680606TA241680606-
NM_000143.4(FH):c.141A>G (p.Gln47=)2271FHLikely benignrs1573888563RCV000871477|RCV001011451|RCV001483695; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680608241680608TC1:g.241680608T>C-
NM_000143.4(FH):c.139C>T (p.Gln47Ter)2271FHPathogenicrs863223980RCV000200269|RCV000445602|RCV000494159|RCV000635305; NMedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680610241680610GA1:g.241680610G>AClinGen:CA324825C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.133G>T (p.Ala45Ser)2271FHUncertain significancers1260007300RCV001010940|RCV001860654; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680616241680616CA1:g.241680616C>A-
NM_000143.4(FH):c.133-3T>C2271FHConflicting interpretations of pathogenicityrs1553341989RCV000703180|RCV001011105|RCV001698486; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241680619241680619AG1:g.241680619A>GClinGen:CA658795649C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.133-8G>C2271FHLikely benign-1RCV001484668; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680624241680624CG241680624-
NM_000143.4(FH):c.133-10T>C2271FHLikely benign-1RCV002129581; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241680626241680626AG241680626-
NM_000143.4(FH):c.132+20C>T2271FHLikely benign-1RCV002132806; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682871241682871GA241682871-
NM_000143.4(FH):c.132+19C>T2271FHLikely benign-1RCV002111812; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682872241682872GA241682872-
NM_000143.4(FH):c.132+13C>A2271FHLikely benign-1RCV002186638; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682878241682878GT241682878-
NC_000001.11:g.(?_241519581)_(241519732_?)del2271FHPathogenic-1RCV001032202; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682881241683032nana-1-
NC_000001.10:g.(?_241682881)_(241683022_?)del2271FHPathogenic-1RCV001386939; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682881241683022nana-1-
NM_000143.4(FH):c.132+7G>A2271FHLikely benign-1RCV001502445; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682884241682884CT241682884-
NC_000001.11:g.(?_241519585)_(241519728_?)del2271FHPathogenic-1RCV000708542; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682885241683028nana-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.132+5G>A2271FHUncertain significancers1060499627RCV000493339|RCV000635320; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682886241682886CTNC_000001.10:g.241682886C>TClinGen:CA645369152C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.132G>A (p.Met44Ile)2271FHPathogenicrs863223982RCV000561722|RCV000807455; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682891241682891CT1:g.241682891C>TClinGen:CA323363C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.120_130del (p.Ala41fs)2271FHPathogenicrs1573889860RCV000796120|RCV001784412; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241682893241682903ATTCGAGCCGCGA1:g.241682893_241682903del-
NM_000143.4(FH):c.128G>T (p.Arg43Leu)2271FHUncertain significance-1RCV001892563; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682895241682895CA241682895-
NM_000143.4(FH):c.127C>G (p.Arg43Gly)2271FHUncertain significancers200496951RCV000537507; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682896241682896GC1:g.241682896G>CClinGen:CA345442626C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.127C>T (p.Arg43Ter)2271FHPathogenicrs200496951RCV000798143|RCV001784418; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241682896241682896GA1:g.241682896G>A-
NM_000143.4(FH):c.125C>T (p.Ala42Val)2271FHUncertain significancers1194980336RCV001324492; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682898241682898GA241682898-
NM_000143.4(FH):c.124G>T (p.Ala42Ser)2271FHUncertain significance-1RCV001871278; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682899241682899CA241682899-
NM_000143.4(FH):c.123G>A (p.Ala41=)2271FHUncertain significancers1660317620RCV001235765; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682900241682900CT1:g.241682900C>T-
NM_000143.4(FH):c.123G>C (p.Ala41=)2271FHLikely benign-1RCV001398285; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682900241682900CG241682900-
NM_000143.4(FH):c.122C>T (p.Ala41Val)2271FHConflicting interpretations of pathogenicityrs201486221RCV000163787|RCV000342312|RCV000394167|RCV000837956; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241682901241682901GA1:g.241682901G>AClinGen:CA189176C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.120C>T (p.Asn40=)2271FHLikely benignrs876658186RCV000215382|RCV000951569; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682903241682903GA1:g.241682903G>AClinGen:CA10577690C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.120C>G (p.Asn40Lys)2271FHUncertain significancers876658186RCV001010297|RCV001037079; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682903241682903GC1:g.241682903G>C-
NM_000143.4(FH):c.102_120del (p.Ser35fs)2271FHPathogenic-1RCV001385257; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682903241682921CGTTCGGAGGCCAAAACGAGC241682902-
NM_000143.4(FH):c.117G>T (p.Pro39=)2271FHLikely benignrs1291665514RCV000870467; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682906241682906CA1:g.241682906C>A-
NM_000143.4(FH):c.116C>T (p.Pro39Leu)2271FHUncertain significance-1RCV001998081; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682907241682907GA241682907-
NM_000143.4(FH):c.115C>T (p.Pro39Ser)2271FHUncertain significance-1RCV002040067; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682908241682908GA241682908-
NM_000143.4(FH):c.114T>C (p.Pro38=)2271FHLikely benign-1RCV002145050; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682909241682909AG241682909-
NM_000143.4(FH):c.113C>T (p.Pro38Leu)2271FHUncertain significance-1RCV001964613; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682910241682910GA241682910-
NM_000143.4(FH):c.110G>C (p.Trp37Ser)2271FHUncertain significancers1660318244RCV001341020; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682913241682913CG241682913-
NM_000143.4(FH):c.109del (p.Trp37fs)2271FHPathogenic-1RCV001382925; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682914241682914CAC241682913-
NM_000143.4(FH):c.105G>A (p.Ser35=)2271FHBenign/Likely benignrs181655698RCV000130839|RCV000230576|RCV000400500|RCV000422755; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN1693741241682918241682918CT1:g.241682918C>TClinGen:CA167212C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.105G>C (p.Ser35=)2271FHLikely benignrs181655698RCV000888784|RCV001009810|RCV001575318; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241682918241682918CG1:g.241682918C>G-
NM_000143.4(FH):c.104C>G (p.Ser35Trp)2271FHUncertain significancers942065027RCV001017127|RCV001574592|RCV001827191; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682919241682919GC1:g.241682919G>C-
NM_000143.4(FH):c.104C>T (p.Ser35Leu)2271FHUncertain significancers942065027RCV001302071|RCV001760354; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241682919241682919GA241682919-
NM_000143.4(FH):c.103T>C (p.Ser35Pro)2271FHUncertain significancers1573889890RCV000804154; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682920241682920AG1:g.241682920A>G-
NM_000143.4(FH):c.102del (p.Ser35fs)2271FHPathogenic-1RCV001380891; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682921241682921AGA241682920-
NM_000143.4(FH):c.101C>T (p.Pro34Leu)2271FHUncertain significance-1RCV002049653; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682922241682922GA241682922-
NM_000143.4(FH):c.100C>T (p.Pro34Ser)2271FHUncertain significancers1191023697RCV001280071; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682923241682923GA1:g.241682923G>A-
NM_000143.4(FH):c.98T>G (p.Val33Gly)2271FHUncertain significancers1319755767RCV000562224|RCV001046087; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682925241682925AC1:g.241682925A>CClinGen:CA345442710C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.96C>A (p.Ala32=)2271FHUncertain significancers750087000RCV000994326|RCV001248716; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682927241682927GT1:g.241682927G>T-
NM_000143.4(FH):c.96C>G (p.Ala32=)2271FHLikely benign-1RCV002122411; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682927241682927GC241682927-
NM_000143.4(FH):c.95C>T (p.Ala32Val)2271FHUncertain significance-1RCV001891107; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682928241682928GA241682928-
NM_000143.4(FH):c.94G>T (p.Ala32Ser)2271FHUncertain significancers1371664717RCV000569300|RCV000706461; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682929241682929CA1:g.241682929C>AClinGen:CA345442723C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.92C>T (p.Ala31Val)2271FHUncertain significancers876659347RCV000219137|RCV001853556; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682931241682931GA1:g.241682931G>AClinGen:CA10577691C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.92C>A (p.Ala31Glu)2271FHUncertain significancers876659347RCV001303948; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682931241682931GT241682931-
NM_000143.4(FH):c.37_92del (p.Pro13fs)2271FHPathogenic-1RCV001981910; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682931241682986CGCGCCACCCAAGCCGGGAGCCGAAGCTAAGGCTGCGGCTGGAGCCCGCACGAGGGGC241682930-
NM_000143.4(FH):c.90C>T (p.Gly30=)2271FHUncertain significancers1262096783RCV000689932; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682933241682933GANC_000001.10:g.241682933G>A-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.90C>A (p.Gly30=)2271FHLikely benignrs1262096783RCV000928138; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682933241682933GT1:g.241682933G>T-
NM_000143.4(FH):c.87_89del (p.Gly30del)2271FHUncertain significance-1RCV001911408; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682934241682936GCCAG241682933-
NM_000143.4(FH):c.81C>T (p.Gly27=)2271FHUncertain significancers1206696042RCV001059089; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682942241682942GA1:g.241682942G>A-
NM_000143.4(FH):c.80G>C (p.Gly27Ala)2271FHUncertain significancers1339215584RCV000692463; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682943241682943CGNC_000001.10:g.241682943C>G-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.78C>T (p.Pro26=)2271FHLikely benignrs1029677665RCV001026931|RCV001707819|RCV002066528; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682945241682945GA1:g.241682945G>AClinGen:CA40337954CN169374 not specified;
NM_000143.4(FH):c.77C>T (p.Pro26Leu)2271FHBenign/Likely benignrs187226800RCV000121090|RCV000227292|RCV000392281|RCV000570367|RCV001800410; NMedGen:CN169374|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241682946241682946GA1:g.241682946G>AClinGen:CA289160C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.74C>T (p.Ala25Val)2271FHUncertain significancers1573889933RCV000802280; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682949241682949GA1:g.241682949G>A-
NM_000143.4(FH):c.73G>A (p.Ala25Thr)2271FHUncertain significancers999146815RCV001026389|RCV001243101; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682950241682950CT1:g.241682950C>T-
NM_000143.4(FH):c.32_69del (p.Ser11fs)2271FHPathogenic-1RCV001390365; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682954241682991AAGCTAAGGCTGCGGCTGGAGCCCGCACGAGGGGACGCGA241682953-
NM_000143.4(FH):c.68C>T (p.Ala23Val)2271FHUncertain significance-1RCV001906826; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682955241682955GA241682955-
NM_000143.4(FH):c.67G>A (p.Ala23Thr)2271FHUncertain significancers1573889943RCV001025670|RCV001827208; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682956241682956CT1:g.241682956C>T-
NM_000143.4(FH):c.65T>A (p.Leu22Ter)2271FHConflicting interpretations of pathogenicityrs1031919395RCV000695135|RCV001771965; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241682958241682958ATNC_000001.10:g.241682958A>T-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.65T>G (p.Leu22Ter)2271FHConflicting interpretations of pathogenicityrs1031919395RCV001025446|RCV001244045; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682958241682958AC1:g.241682958A>C-
NM_000143.4(FH):c.65T>C (p.Leu22Ser)2271FHUncertain significance-1RCV001984270; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682958241682958AG241682958-
NM_000143.4(FH):c.63C>T (p.Ala21=)2271FHConflicting interpretations of pathogenicityrs555404867RCV000166876|RCV000270051|RCV000370510|RCV001706088; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241682960241682960GA1:g.241682960G>AClinGen:CA196927C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.62C>T (p.Ala21Val)2271FHUncertain significance-1RCV001888202; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682961241682961GA241682961-
NM_000143.4(FH):c.59C>T (p.Ala20Val)2271FHUncertain significancers1573889953RCV001024776|RCV001832358; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682964241682964GA1:g.241682964G>A-
NM_000143.4(FH):c.58G>A (p.Ala20Thr)2271FHUncertain significancers572324497RCV001024665|RCV001220687; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682965241682965CT1:g.241682965C>T-
NM_000143.4(FH):c.57C>A (p.Ala19=)2271FHUncertain significance-1RCV001370188; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682966241682966GT241682966-
NM_000143.4(FH):c.57C>T (p.Ala19=)2271FHLikely benign-1RCV001429986; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682966241682966GA241682966-
NM_000143.4(FH):c.54A>T (p.Pro18=)2271FHLikely benign-1RCV001423619; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682969241682969TA241682969-
NM_000143.4(FH):c.53C>T (p.Pro18Leu)2271FHBenign/Likely benignrs201887750RCV000121088|RCV000273634|RCV000331003|RCV000493989|RCV000756164; NMedGen:CN169374|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241682970241682970GA1:g.241682970G>AClinGen:CA289157C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.52C>G (p.Pro18Ala)2271FHUncertain significancers1660321288RCV001309543; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682971241682971GC241682971-
NM_000143.4(FH):c.50C>T (p.Ala17Val)2271FHConflicting interpretations of pathogenicityrs111548093RCV000566056|RCV000635321|RCV001722092; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241682973241682973GA1:g.241682973G>AClinGen:CA321044C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.49G>C (p.Ala17Pro)2271FHConflicting interpretations of pathogenicityrs755886213RCV000563316|RCV001063904; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682974241682974CG1:g.241682974C>GClinGen:CA1478780C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.48G>T (p.Arg16=)2271FHLikely benignrs1468361143RCV000558847|RCV001023232; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241682975241682975CA1:g.241682975C>AClinGen:CA424076837C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.48G>A (p.Arg16=)2271FHUncertain significancers1468361143RCV001346654; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682975241682975CT241682975-
NM_000143.4(FH):c.46C>T (p.Arg16Trp)2271FHUncertain significancers1324875131RCV000700957; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682977241682977GANC_000001.10:g.241682977G>A-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup)2271FHUncertain significancers1395036789RCV001042383; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682979241682980AACGAGGGGACGCGAGCGCG1:g.241682979_241682980insCGAGGGGACGCGAGCGCG-
NM_000143.4(FH):c.44T>C (p.Val15Ala)2271FHUncertain significancers1660322018RCV001204220; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682979241682979AG1:g.241682979A>G-
NM_000143.4(FH):c.43G>T (p.Val15Leu)2271FHUncertain significancers1463008959RCV001022429|RCV001066376; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682980241682980CA1:g.241682980C>A-
NM_000143.4(FH):c.42C>A (p.Leu14=)2271FHUncertain significancers1660322230RCV001068742; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682981241682981GT1:g.241682981G>T-
NM_000143.4(FH):c.42C>T (p.Leu14=)2271FHLikely benign-1RCV001439586; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682981241682981GA241682981-
NM_000143.4(FH):c.40dup (p.Leu14fs)2271FHConflicting interpretations of pathogenicityrs1060500900RCV000466852|RCV000493321|RCV001556671; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241682982241682983AAGNC_000001.10:g.241682986dupClinGen:CA16610047C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.41T>C (p.Leu14Pro)2271FHUncertain significancers1553342163RCV000635314; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682982241682982AG1:g.241682982A>GClinGen:CA345442977C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.40C>T (p.Leu14Phe)2271FHUncertain significancers981562354RCV000635308; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682983241682983GA1:g.241682983G>AClinGen:CA40338036C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.39C>T (p.Pro13=)2271FHLikely benignrs1060504077RCV000464689|RCV001496608; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682984241682984GANC_000001.10:g.241682984G>AClinGen:CA16610048C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.39C>A (p.Pro13=)2271FHLikely benign-1RCV001415363; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682984241682984GT241682984-
NM_000143.4(FH):c.39C>G (p.Pro13=)2271FHLikely benign-1RCV002101060; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682984241682984GC241682984-
NM_000143.4(FH):c.37C>T (p.Pro13Ser)2271FHUncertain significancers587778360RCV000217403|RCV001215487; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682986241682986GA1:g.241682986G>AClinGen:CA10577692C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.37C>A (p.Pro13Thr)2271FHUncertain significancers587778360RCV000808009; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682986241682986GT1:g.241682986G>T-
NM_000143.4(FH):c.36T>A (p.Arg12=)2271FHLikely benign-1RCV002144676; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682987241682987AT241682987-
NM_000143.4(FH):c.35G>T (p.Arg12Leu)2271FHUncertain significancers367826177RCV000700942|RCV001020691|RCV001771986; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241682988241682988CANC_000001.10:g.241682988C>A-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.35G>A (p.Arg12His)2271FHUncertain significance-1RCV001917742; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682988241682988CT241682988-
NM_000143.4(FH):c.34C>T (p.Arg12Cys)2271FHUncertain significancers199912971RCV001040233; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682989241682989GA1:g.241682989G>A-
NM_000143.4(FH):c.34C>G (p.Arg12Gly)2271FHUncertain significance-1RCV002027691; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682989241682989GC241682989-
NM_000143.4(FH):c.34C>A (p.Arg12Ser)2271FHUncertain significance-1RCV002003194; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682989241682989GT241682989-
NM_000143.4(FH):c.33G>C (p.Ser11=)2271FHConflicting interpretations of pathogenicityrs200542051RCV000315971|RCV000372989|RCV000564759|RCV001706443; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241682990241682990CGNC_000001.10:g.241682990C>GClinGen:CA1478783C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.33G>A (p.Ser11=)2271FHLikely benignrs200542051RCV000635329; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682990241682990CT1:g.241682990C>TClinGen:CA1478784C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.33G>T (p.Ser11=)2271FHLikely benign-1RCV001395465; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682990241682990CA241682990-
NM_000143.4(FH):c.32C>T (p.Ser11Leu)2271FHUncertain significance-1RCV001907166; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682991241682991GA241682991-
NM_000143.4(FH):c.31T>C (p.Ser11Pro)2271FHUncertain significance-1RCV001950203; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682992241682992AG241682992-
NM_000143.4(FH):c.29_30del (p.Arg10fs)2271FHPathogenic-1RCV002037848; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241682993241682994AGCA241682992-
NM_000143.4(FH):c.28C>T (p.Arg10Cys)2271FHUncertain significancers201507555RCV001039209|RCV001759736|RCV001759949; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241682995241682995GA1:g.241682995G>A-
NM_000143.4(FH):c.27G>A (p.Ala9=)2271FHLikely benignrs983362570RCV000542369|RCV000564339; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241682996241682996CT1:g.241682996C>TClinGen:CA40338095C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.26C>G (p.Ala9Gly)2271FHUncertain significancers766915154RCV000562796|RCV000635299|RCV001764682; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241682997241682997GC1:g.241682997G>CClinGen:CA40338096C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.22C>G (p.Leu8Val)2271FHUncertain significancers1660323820RCV001230275; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683001241683001GC1:g.241683001G>C-
NM_000143.4(FH):c.21C>T (p.Leu7=)2271FHLikely benignrs1263147931RCV000876574|RCV001274351; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683002241683002GA1:g.241683002G>A-
NM_000143.4(FH):c.21C>G (p.Leu7=)2271FHLikely benign-1RCV001393419; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683002241683002GC241683002-
NM_000143.4(FH):c.16C>T (p.Arg6Trp)2271FHUncertain significance-1RCV001961260; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683007241683007GA241683007-
NM_000143.4(FH):c.15T>G (p.Leu5=)2271FHLikely benign-1RCV001391973; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683008241683008AC241683008-
NM_000143.4(FH):c.14T>C (p.Leu5Pro)2271FHUncertain significancers200099371RCV000688862; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683009241683009AGNC_000001.10:g.241683009A>G-C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.13C>G (p.Leu5Val)2271FHUncertain significancers1553342165RCV001233717; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683010241683010GC1:g.241683010G>C-
NM_000143.4(FH):c.12A>G (p.Ala4=)2271FHConflicting interpretations of pathogenicityrs201277370RCV000285539|RCV000342804|RCV000564813|RCV001711883; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241683011241683011TCNC_000001.10:g.241683011T>CClinGen:CA10610829C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.12A>T (p.Ala4=)2271FHLikely benign-1RCV001455574; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683011241683011TA241683011-
NM_000143.4(FH):c.11C>A (p.Ala4Glu)2271FHUncertain significancers1252151546RCV001236738; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683012241683012GT1:g.241683012G>T-
NM_000143.4(FH):c.10G>A (p.Ala4Thr)2271FHUncertain significancers1573890047RCV000804394; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683013241683013CT1:g.241683013C>T-
NM_000143.4(FH):c.7C>T (p.Arg3Ter)2271FHPathogenicrs202166344RCV000196918|RCV001244044; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683016241683016GA1:g.241683016G>AClinGen:CA321335CN517202 not provided;
NM_000143.4(FH):c.7C>G (p.Arg3Gly)2271FHConflicting interpretations of pathogenicityrs202166344RCV000195609|RCV000204400|RCV000346414|RCV000568788|RCV001818470; NMedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN1693741241683016241683016GC1:g.241683016G>CClinGen:CA319970C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.6C>T (p.Tyr2=)2271FHBenign/Likely benignrs199971078RCV000163845|RCV000241727|RCV000676940|RCV001086286; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683017241683017GA1:g.241683017G>AClinGen:CA189328C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.6C>G (p.Tyr2Ter)2271FHConflicting interpretations of pathogenicityrs199971078RCV000559461|RCV000572622; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241683017241683017GCNC_000001.10:g.241683017G>CClinGen:CA40338139C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.5dup (p.Tyr2Ter)2271FHPathogenicrs1573890070RCV000797471; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683017241683018GGT1:g.241683017_241683018insT-
NM_000143.4(FH):c.5A>G (p.Tyr2Cys)2271FHUncertain significancers1553342167RCV000635288; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683018241683018TC1:g.241683018T>CClinGen:CA345443111C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.4T>C (p.Tyr2His)2271FHUncertain significancers112335468RCV000537995|RCV001023401|RCV001662540; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021241683019241683019AGNC_000001.10:g.241683019A>GClinGen:CA1478785C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.4T>A (p.Tyr2Asn)2271FHUncertain significancers112335468RCV001338216; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683019241683019AT241683019-
NM_000143.4(FH):c.3G>A (p.Met1Ile)2271FHLikely pathogenic-1RCV001378930; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683020241683020CT241683020-
NM_000143.4(FH):c.3G>C (p.Met1Ile)2271FHLikely pathogenic-1RCV002011105; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683020241683020CG241683020-
NM_000143.4(FH):c.2T>G (p.Met1Arg)2271FHConflicting interpretations of pathogenicityrs201261794RCV000493638|RCV001242068; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683021241683021ACNC_000001.10:g.241683021A>CClinGen:CA345443122C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.2T>C (p.Met1Thr)2271FHConflicting interpretations of pathogenicityrs201261794RCV001017952|RCV001038745; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683021241683021AG1:g.241683021A>G-
NM_000143.4(FH):c.2T>A (p.Met1Lys)2271FHLikely pathogenic-1RCV001378684; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683021241683021AT241683021-
NM_000143.4(FH):c.1A>G (p.Met1Val)2271FHLikely pathogenicrs776806414RCV000226429|RCV000498198; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241683022241683022TC1:g.241683022T>CClinGen:CA10581788C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1A>C (p.Met1Leu)2271FHConflicting interpretations of pathogenicityrs776806414RCV000307949|RCV000369616; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683022241683022TGNC_000001.10:g.241683022T>GClinGen:CA10609675C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1A>T (p.Met1Leu)2271FHLikely pathogenicrs776806414RCV000794812; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683022241683022TA1:g.241683022T>A-
NM_000143.4(FH):c.-11C>T2271FHConflicting interpretations of pathogenicityrs200942733RCV000199536|RCV000261877|RCV000368306|RCV001529842; NMedGen:CN169374|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|MedGen:CN5172021241683033241683033GA1:g.241683033G>AClinGen:CA324080C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.-14G>C2271FHUncertain significancers543556537RCV001097377|RCV001097378; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:241241683036241683036CG1:g.241683036C>G-
NM_000143.3(FH):c.-48G>T2271FHUncertain significancers886046320RCV000319482|RCV000353271; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241683070241683070CANC_000001.10:g.241683070C>AClinGen:CA10609676C0342770 606812 Fumarase deficiency;
NC_000001.11:g.241519779G>C2271FHConflicting interpretations of pathogenicityrs201589544RCV001099128|RCV001099129; NMONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241683079241683079GC1:g.241683079G>C-
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