MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Leiomyomatosis (D018231)
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Neoplastic Syndromes, Hereditary (D009386)
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Skin Neoplasms (D012878)
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Uterine Neoplasms (D014594)
..Starting node
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Hereditary leiomyomatosis and renal cell cancer (C535516)

       Child Nodes:



 Sister Nodes: 
..expandAdenosarcoma of the uterus (C538232)
..expandEndometrial Neoplasms (D016889) Child3
..expandHereditary leiomyomatosis and renal cell cancer (C535516)
..expandLeiomyoma of vulva and esophagus (C537006)
..expandLEIOMYOMA, UTERINE (OMIM:150699)
..expandUterine Cervical Neoplasms (D002583) Child5
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5580
Name:Hereditary leiomyomatosis and renal cell cancer
Definition:
Alternative IDs:OMIM:150800
ParentIDs:MESH:D009386|MESH:D012878|MESH:D014594|MESH:D018231
TreeNumbers:C04.557.450.590.450.465/C535516 |C04.588.805/C535516 |C04.588.945.418.948/C535516 |C04.700/C535516 |C13.351.500.852.762/C535516 |C13.351.937.418.875/C535516 |C16.320.700/C535516 |C17.800.882/C535516
Synonyms:Cutaneous leiomyomata with uterine leiomyomata |HLRCC |Leiomyoma, hereditary multiple, of skin |Leiomyoma, multiple cutaneous |Leiomyomatosis and renal cell cancer, hereditary |LRCC |MCL |MCUL1 |Multiple cutaneous and uterine leiomyomata 1 |MULTIPLE CUTANEOUS AND
Slim Mappings:Cancer|Genetic disease (inborn)|Skin disease|Urogenital disease (female)
Reference: MedGen: C535516
MeSH: C535516
OMIM: 150800;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007620Cutaneous leiomyoma
3 HP:0006755Cutaneous leiomyosarcomaHP:0040283
4 HP:0003536Decreased fumarate hydratase activity
5 HP:0003829Incomplete penetrance
6 HP:0007437Multiple cutaneous leiomyomas
7 HP:0005584Renal cell carcinoma
8 HP:0000131Uterine leiomyoma
9 HP:0002891Uterine leiomyosarcoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
Single allele2271FHPathogenic-1RCV000850150; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523; MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621237244834242310908nana-C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
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;
NM_000143.4(FH):c.1506dup (p.Pro503fs)2271FHUncertain significancers886041202RCV000354790|RCV000445599|RCV000494476; NMedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241661154241661155GGT1:g.241661154_241661155insTClinGen:CA10602765C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1500G>A (p.Trp500Ter)2271FHPathogenic/Likely pathogenicrs886039368RCV000254913|RCV000445633|RCV000494499; NMedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241661161241661161CT1:g.241661161C>TClinGen:CA10588287C0027672 Hereditary cancer-predisposing syndrome;
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.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.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.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.1424C>A (p.Ala475Glu)2271FHUncertain significancers863224012RCV000445597; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241661237241661237GTNC_000001.10:g.241661237G>TClinGen:CA319934C1708350 150800 Multiple cutaneous leiomyomas;
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.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;
NM_000143.4(FH):c.1298_1340dup (p.Met449fs)2271FHPathogenicrs1553340681RCV000445609; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241663786241663787CCTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTNC_000001.10:g.241663787_241663829dupClinGen:CA16609360C1708350 150800 Multiple cutaneous leiomyomas;
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.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.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.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.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.1237-14_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.1237-50TC[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+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.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.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.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.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.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.1126C>T (p.Gln376Ter)2271FHPathogenicrs398123160RCV000078141|RCV000445587; NMedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241665853241665853GA1:g.241665853G>AClinGen:CA220373C1708350 150800 Multiple cutaneous leiomyomas;
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.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.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.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.1067T>A (p.Leu356Ter)2271FHPathogenic/Likely pathogenicrs727503927RCV000190645|RCV000790808; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241667383241667383AT1:g.241667383A>TClinGen:CA233988C1708350 150800 Multiple cutaneous leiomyomas;
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.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.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.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.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.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.965T>G (p.Val322Gly)2271FHConflicting interpretations of pathogenicityrs863224003RCV000196089|RCV000445631|RCV001019611; NMedGen:CN517202|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241667485241667485AC1:g.241667485A>CClinGen:CA320499C1708350 150800 Multiple cutaneous leiomyomas;
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.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.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.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.905-5T>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.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.893_904+7del2271FHPathogenicrs1573881533RCV001027656; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241669296241669314TCACTAACCTGTAAGTGCAGT1:g.241669296_241669314del-
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.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.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.820G>C (p.Ala274Pro)2271FHLikely pathogenicrs1060499638RCV000445594|RCV001782907; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241669387241669387CGNC_000001.10:g.241669387C>GClinGen:CA16609367C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.808del (p.Tyr270fs)2271FHPathogenicrs1060499637RCV000445636; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241669399241669399TAT1:g.241669399_241669399delClinGen:CA16609368C1708350 150800 Multiple cutaneous leiomyomas;
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.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.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.739-10T>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.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-
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.731T>G (p.Leu244Arg)2271FHLikely pathogenicrs1060499636RCV000445612; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241671910241671910ACNC_000001.10:g.241671910A>CClinGen:CA16609370C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.703C>G (p.His235Asp)2271FHLikely pathogenicrs863223968RCV000445621; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241671938241671938GCNC_000001.10:g.241671938G>CClinGen:CA16609371C1708350 150800 Multiple cutaneous leiomyomas;
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.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.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.578_583del (p.Thr193_Ala194del)2271FHPathogenic/Likely pathogenicrs1060499635RCV000445627|RCV000563738; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621241672058241672063ATTGCTGANC_000001.10:g.241672059_241672064delClinGen:CA16609372C0027672 Hereditary cancer-predisposing syndrome;
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.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.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.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.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.524del (p.Val175fs)2271FHPathogenicrs1060499634RCV000445619; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241675298241675298CACNC_000001.10:g.241675298delClinGen:CA16609373C1708350 150800 Multiple cutaneous leiomyomas;
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.439dup (p.Thr147fs)2271FHPathogenicrs1060499633RCV000445601|RCV000657166; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241675382241675383GGTNC_000001.10:g.241675384dupClinGen:CA16609374C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.434C>G (p.Ser145Ter)2271FHPathogenicrs1573885482RCV001022335|RCV001766853|RCV001784560; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241675388241675388GC1:g.241675388G>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.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.395T>C (p.Leu132Ser)2271FHUncertain significancers1060499632RCV000445629; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241675427241675427AGNC_000001.10:g.241675427A>GClinGen:CA16609375C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.395del (p.Lys131_Leu132insTer)2271FHPathogenicrs1060499631RCV000445618; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241675427241675427TATNC_000001.10:g.241675428delClinGen:CA16609376C1708350 150800 Multiple cutaneous leiomyomas;
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.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.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.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.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.322C>T (p.Gln108Ter)2271FHPathogenic/Likely pathogenicrs1060499630RCV000445632|RCV000626620|RCV000697664; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|Human Phenotype Ontology:HP:0000131,Human Phenotype Ontology:HP:0008642,MONDO:MONDO:0007886,MedGen:C0042133,OMIM:150699; Human Phenotype Ontology:HP:0007507,1241676959241676959GA1:g.241676959G>AClinGen:CA16609377C0346064 Cutaneous leiomyoma;
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.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.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>C (p.Arg101Pro)2271FHLikely pathogenicrs75086406RCV000017625|RCV000489422; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241676979241676979CG1:g.241676979C>GOMIM:136850.0009,ClinGen:CA341389C1708350 150800 Multiple cutaneous leiomyomas;
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.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;
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.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.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.224del (p.Ser75fs)2271FHLikely pathogenicrs1660242061RCV001201265; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241680525241680525AGA1:g.241680525_241680525del-
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.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.157G>T (p.Glu53Ter)2271FHPathogenicrs863224013RCV000445623|RCV001529890; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241680592241680592CA1:g.241680592C>AClinGen:CA16609380C1708350 150800 Multiple cutaneous leiomyomas;
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.133-1G>A2271FHPathogenicrs863224011RCV000445590|RCV001781574; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523|MedGen:CN5172021241680617241680617CT1:g.241680617C>TClinGen:CA323663C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.132+5G>T2271FHUncertain significancers1060499627RCV000445628; NHuman Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:5231241682886241682886CA1:g.241682886C>AClinGen:CA16609381C1708350 150800 Multiple cutaneous leiomyomas;
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.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.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.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.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.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.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.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.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.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.-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-
NM_001083602.3(PTCH1):c.-241del5727PTCH1Uncertain significancers1554710890RCV000626745; NHuman Phenotype Ontology:HP:0000131,Human Phenotype Ontology:HP:0008642,MONDO:MONDO:0007886,MedGen:C0042133,OMIM:150699; Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:52399827899498278994CACNC_000009.11:g.98278997delClinGen:CA658797251C1708350 150800 Multiple cutaneous leiomyomas;
MSeqDR Portal