MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Leiomyomatosis (D018231)
Parent Node: Neoplastic Syndromes, Hereditary (D009386)
Parent Node: Skin Neoplasms (D012878)
Parent Node: Uterine Neoplasms (D014594)
..Starting node ..Hereditary leiomyomatosis and renal cell cancer (C535516)
Child Nodes:
Sister Nodes:
..Adenosarcoma of the uterus (C538232)
..Endometrial Neoplasms (D016889) 3
..Hereditary leiomyomatosis and renal cell cancer (C535516)
..Leiomyoma of vulva and esophagus (C537006)
..LEIOMYOMA, UTERINE (OMIM:150699)
..Uterine Cervical Neoplasms (D002583) 5
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:

Slim Mappings:

Cancer|Genetic disease (inborn)|Skin disease|Urogenital disease (female)

Reference:

MedGen: C535516
MeSH: C535516
OMIM: 150800;
MSeqDR :
Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007620	Cutaneous leiomyoma
3	HP:0006755	Cutaneous leiomyosarcoma	HP:0040283
4	HP:0003536	Decreased fumarate hydratase activity
5	HP:0003829	Incomplete penetrance
6	HP:0007437	Multiple cutaneous leiomyomas
7	HP:0005584	Renal cell carcinoma
8	HP:0000131	Uterine leiomyoma
9	HP:0002891	Uterine leiomyosarcoma

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
Single allele	2271	FH	Pathogenic	-1	RCV000850150;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162; Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	237244834	242310908	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_000143.3(FH):c.*266A>G	2271	FH	Conflicting interpretations of pathogenicity	113667027	RCV000343612\|RCV000400259;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241660862	241660862	1:g.241660862T>C	ClinGen:CA10609655	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.221_222del	2271	FH	Benign/Likely benign	112946286	RCV000300756\|RCV000349527\|RCV001651349;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:C3661900	1	241660906	241660907	NC_000001.10:g.241660906_241660907del	ClinGen:CA10609666	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.*211G>C	2271	FH	Uncertain significance	1385240800	RCV001102506\|RCV001102507;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241660917	241660917	1:g.241660917C>G	-
NM_000143.4(FH):c.*102T>C	2271	FH	Conflicting interpretations of pathogenicity	200093224	RCV000297371\|RCV000355546;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241661026	241661026	NC_000001.10:g.241661026A>G	ClinGen:CA10610740	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.*92G>T	2271	FH	Uncertain significance	202167168	RCV000321931\|RCV000361516;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661036	241661036	NC_000001.10:g.241661036C>A	ClinGen:CA10609668	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1520T>C (p.Leu507Pro)	2271	FH	Conflicting interpretations of pathogenicity	1425094515	RCV000597494\|RCV002395536\|RCV003336091;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241661141	241661141	1:g.241661141A>G	ClinGen:CA345450002	CN169374 not specified;
NM_000143.4(FH):c.1506dup (p.Pro503fs)	2271	FH	Conflicting interpretations of pathogenicity	886041202	RCV000354790\|RCV000445599\|RCV000494476;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241661154	241661155	1:g.241661154_241661155insT	ClinGen:CA10602765	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1500G>A (p.Trp500Ter)	2271	FH	Pathogenic	886039368	RCV000254913\|RCV000445633\|RCV000494499;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241661161	241661161	1:g.241661161C>T	ClinGen:CA10588287	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1482A>G (p.Ala494=)	2271	FH	Conflicting interpretations of pathogenicity	201559643	RCV000228601\|RCV001011810\|RCV001097100\|RCV001589167\|RCV002267976;	N	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:523\|MedGen:C3661900\|MedGen:CN169374	1	241661179	241661179	1:g.241661179T>C	ClinGen:CA1478427	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1478del (p.Thr493fs)	2271	FH	Pathogenic/Likely pathogenic	2147911225	RCV002552962\|RCV003456252;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241661183	241661183	241661182	-
NM_000143.4(FH):c.1477dup (p.Thr493fs)	2271	FH	Pathogenic	-1	RCV003450150;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241661183	241661184		-
NM_000143.4(FH):c.1475_1476del (p.Leu492fs)	2271	FH	Pathogenic	886041201	RCV000297629\|RCV000494455\|RCV003335299;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241661185	241661186	NC_000001.10:g.241661185GA[1]	ClinGen:CA10602782	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1469del (p.Gly490fs)	2271	FH	Pathogenic/Likely pathogenic	1060499645	RCV000445610\|RCV002393069\|RCV002522734;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	1	241661192	241661192	NC_000001.10:g.241661193del	ClinGen:CA16609359	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1447A>C (p.Lys483Gln)	2271	FH	Uncertain significance	1017406473	RCV000635302\|RCV001591415\|RCV002388030\|RCV003325208;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241661214	241661214	NC_000001.10:g.241661214T>G	ClinGen:CA40371654	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1443C>G (p.Thr481=)	2271	FH	Conflicting interpretations of pathogenicity	780200136	RCV000326720\|RCV000366211\|RCV001011606\|RCV003103755;	N	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:C3661900	1	241661218	241661218	NC_000001.10:g.241661218G>C	ClinGen:CA1478436	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	2271	FH	Conflicting interpretations of pathogenicity	367543046	RCV000034483\|RCV000034921\|RCV000164180\|RCV001000649\|RCV001762110\|RCV003415765;	N	MedGen:C3661900\|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:523	1	241661227	241661228	1:g.241661227_241661228insTTT	ClinGen:CA190246,OMIM:136850.0012	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1428C>T (p.His476=)	2271	FH	Likely benign	199887605	RCV000163868\|RCV000250389\|RCV001721056\|RCV003316010;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241661233	241661233	1:g.241661233G>A	ClinGen:CA189389	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1424C>A (p.Ala475Glu)	2271	FH	Uncertain significance	863224012	RCV000445597;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241661237	241661237	NC_000001.10:g.241661237G>T	ClinGen:CA319934	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1421C>G (p.Thr474Arg)	2271	FH	Conflicting interpretations of pathogenicity	369802820	RCV000034487\|RCV000332300\|RCV000381370\|RCV001011508;	N	MedGen:C3661900\|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	1	241661240	241661240	1:g.241661240G>C	ClinGen:CA215566	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1408A>G (p.Lys470Glu)	2271	FH	Uncertain significance	922905323	RCV000550902\|RCV001011420\|RCV002254703\|RCV002527721;	N	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:523\|MedGen:C3661900	1	241661253	241661253	NC_000001.10:g.241661253T>C	ClinGen:CA40371763	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)	2271	FH	Pathogenic/Likely pathogenic	863224010	RCV000197211\|RCV000445635\|RCV002390521;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241661267	241661267	1:g.241661267T>C	ClinGen:CA321656	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1390+2T>C	2271	FH	Conflicting interpretations of pathogenicity	1558396285	RCV002388323\|RCV002533667\|RCV003456135\|RCV003465624;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663735	241663735	NC_000001.10:g.241663735A>G	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1390+1G>T	2271	FH	Pathogenic/Likely pathogenic	886039367	RCV000255853\|RCV001011336\|RCV001251427\|RCV003454775;	N	MedGen:C3661900\|MONDO: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	1	241663736	241663736	1:g.241663736C>A	ClinGen:CA10588288,OMIM:136850.0013	CN517202 not provided;
NM_000143.4(FH):c.1298_1340dup (p.Met449fs)	2271	FH	Pathogenic	1553340681	RCV000445609;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241663786	241663787	NC_000001.10:g.241663787_241663829dup	ClinGen:CA16609360	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs)	2271	FH	Pathogenic	1553340686	RCV000478909\|RCV003139683;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241663790	241663791	NC_000001.10:g.241663791_241663833dup	ClinGen:CA16617114	CN517202 not provided;
NM_000143.4(FH):c.1308G>A (p.Val436=)	2271	FH	Likely benign	201535626	RCV001653838\|RCV002256284\|RCV003316582;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241663819	241663819	NC_000001.10:g.241663819C>T	ClinGen:CA1478481	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1303G>A (p.Val435Met)	2271	FH	Conflicting interpretations of pathogenicity	147528200	RCV000121094\|RCV000473170\|RCV000571469\|RCV001564388\|RCV003325184\|RCV003407515;	N	MedGen:CN169374\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241663824	241663824	1:g.241663824C>T	ClinGen:CA159749	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1302C>T (p.Cys434=)	2271	FH	Benign	2070080	RCV000125104\|RCV000163275\|RCV000292482\|RCV000338010\|RCV000589909;	N	MedGen: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:C3661900	1	241663825	241663825	1:g.241663825G>A	ClinGen:CA187893	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)	2271	FH	Conflicting interpretations of pathogenicity	398123164	RCV000078146\|RCV000492797\|RCV003315601;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241663826	241663826	1:g.241663826C>T	ClinGen:CA285326	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1293del (p.Glu432fs)	2271	FH	Pathogenic	398123163	RCV000078145\|RCV000445588\|RCV000461548\|RCV000493624;	N	MedGen:C3661900\|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:140162	1	241663834	241663834	1:g.241663834_241663834del	ClinGen:CA285325,OMIM:136850.0015	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1292C>T (p.Thr431Ile)	2271	FH	Uncertain significance	201005880	RCV000543314\|RCV001010798\|RCV001098856\|RCV002527719;	N	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:523\|MedGen:C3661900	1	241663835	241663835	1:g.241663835G>A	ClinGen:CA40327543	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1259C>T (p.Ala420Val)	2271	FH	Uncertain significance	766377516	RCV001305118\|RCV002486186\|RCV002543121\|RCV003166728;	N	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:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MONDO:MONDO:0015356,	1	241663868	241663868	241663868	-
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)	2271	FH	Pathogenic/Likely pathogenic	200004220	RCV000078144\|RCV000445624\|RCV000492881;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241663872	241663872	1:g.241663872A>G	ClinGen:CA285322	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1250_1251insTAATGTGT (p.Leu417fs)	2271	FH	Likely pathogenic	-1	RCV002292257;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241663876	241663877	241663876	-
NM_000143.4(FH):c.1240A>T (p.Lys414Ter)	2271	FH	Pathogenic	1573878145	RCV001010521\|RCV002282425\|RCV002549320;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241663887	241663887	1:g.241663887T>A	-
NM_000143.4(FH):c.1237-5_1237-4insCTCT	2271	FH	Uncertain significance	886046316	RCV000334499\|RCV000401775;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241663894	241663895	NC_000001.10:g.241663896AG[3]	ClinGen:CA10610741	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-14_1237-9dup	2271	FH	Benign/Likely benign	779985493	RCV000231245\|RCV000310725\|RCV001818563\|RCV002516307;	N	MONDO: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:C3661900	1	241663898	241663899	1:g.241663898_241663899insGAGTGA	ClinGen:CA1478492	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-9_1237-8insCTCTCT	2271	FH	Conflicting interpretations of pathogenicity	1553340717	RCV000358740\|RCV000399875\|RCV002522124;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241663898	241663899	NC_000001.10:g.241663900AG[4]	ClinGen:CA10609920	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-11C>G	2271	FH	Likely pathogenic	2147913449	RCV002266555;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241663901	241663901	241663901	-
NM_000143.4(FH):c.1237-50TC[23]	2271	FH	Conflicting interpretations of pathogenicity	144131869	RCV000339845\|RCV000399956\|RCV001579340\|RCV001701843;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MedGen:CN169374	1	241663902	241663903	NC_000001.10:g.241663903GA[23]	ClinGen:CA10609670	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-12A>T	2271	FH	Conflicting interpretations of pathogenicity	74405673	RCV000270742\|RCV000325826\|RCV001711881\|RCV003320627;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MedGen:CN169374	1	241663902	241663902	NC_000001.10:g.241663902T>A	ClinGen:CA10609921	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[25]	2271	FH	Conflicting interpretations of pathogenicity	144131869	RCV000313248\|RCV000367974\|RCV001795915\|RCV002256189\|RCV002279953;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	1	241663902	241663903	NC_000001.10:g.241663903GA[25]	ClinGen:CA10609926	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[22]	2271	FH	Conflicting interpretations of pathogenicity	144131869	RCV000343423\|RCV000398241\|RCV001711882\|RCV001820852;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MedGen:CN169374	1	241663902	241663903	NC_000001.10:g.241663903GA[22]	ClinGen:CA10610820	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[24]	2271	FH	Conflicting interpretations of pathogenicity	144131869	RCV000362365\|RCV000390052\|RCV001538757\|RCV002268016;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MedGen:CN169374	1	241663902	241663903	NC_000001.10:g.241663903GA[24]	ClinGen:CA10610821	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[27]	2271	FH	Likely benign	144131869	RCV002502065\|RCV002257116\|RCV002268634;	N	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:CN169374	1	241663902	241663903	241663902	-
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCA	2271	FH	Likely benign	-1	RCV002502084;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24; Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241663902	241663903	NC_000001.10:g.241663905_241663906insTGAGAGAGAGAG	-
NM_000143.4(FH):c.1237-50TC[18]	2271	FH	Conflicting interpretations of pathogenicity	144131869	RCV000260799\|RCV000355616\|RCV001579647\|RCV002268017\|RCV002255356;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241663903	241663904	NC_000001.10:g.241663903GA[18]	ClinGen:CA10609925	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[20]	2271	FH	Conflicting interpretations of pathogenicity	144131869	RCV000276737\|RCV000386377\|RCV000456048\|RCV001636853\|RCV002257627;	N	Human 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:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241663903	241663904	NC_000001.10:g.241663903GA[20]	ClinGen:CA10610742	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[17]	2271	FH	Conflicting interpretations of pathogenicity	144131869	RCV000266800\|RCV000315902\|RCV002256190\|RCV002279954;	N	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:140162\|MedGen:CN169374	1	241663903	241663906	NC_000001.10:g.241663903GA[17]	ClinGen:CA10610744	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[21]	2271	FH	Conflicting interpretations of pathogenicity	144131869	RCV000282143\|RCV000373250\|RCV000455309\|RCV001618510\|RCV002365342;	N	MONDO: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:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241663903	241663906	NC_000001.10:g.241663903GA[21]	ClinGen:CA10610745	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1236+14C>T	2271	FH	Benign/Likely benign	149241949	RCV000125103\|RCV000321851\|RCV000376619\|RCV000586848\|RCV002371961\|RCV002492466;	N	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:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241665729	241665729	1:g.241665729G>A	ClinGen:CA290930	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1236+2T>A	2271	FH	Likely pathogenic	-1	RCV003450108;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241665741	241665741		-
NM_000143.4(FH):c.1210G>T (p.Glu404Ter)	2271	FH	Pathogenic	797044974	RCV000192733\|RCV001579461;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241665769	241665769	NC_000001.10:g.241665769C>A	ClinGen:CA347361	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1209del (p.Phe403fs)	2271	FH	Pathogenic/Likely pathogenic	1060499644	RCV000445613\|RCV001010289\|RCV002525532\|RCV003463832;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665770	241665770	NC_000001.10:g.241665773del	ClinGen:CA16609361	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)	2271	FH	Pathogenic/Likely pathogenic	863224007	RCV000200752\|RCV000465210\|RCV000445595\|RCV002336534;	N	MedGen:C3661900\|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	1	241665790	241665790	NC_000001.10:g.241665790C>T	ClinGen:CA325330	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)	2271	FH	Conflicting interpretations of pathogenicity	727503926	RCV000153234\|RCV000217529\|RCV000445620;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241665825	241665825	1:g.241665825G>T	ClinGen:CA295616	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1144A>G (p.Met382Val)	2271	FH	Pathogenic/Likely pathogenic	886039365	RCV000254948\|RCV000492991\|RCV003456042;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241665835	241665835	1:g.241665835T>C	ClinGen:CA10588290	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1138dup (p.Met380fs)	2271	FH	Pathogenic	781466938	RCV000445607\|RCV001782910\|RCV002323668;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241665840	241665841	1:g.241665840_241665841insT	ClinGen:CA1478537	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1127_1128del (p.Gln376fs)	2271	FH	Pathogenic	-1	RCV003316944;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241665851	241665852		-
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	2271	FH	Conflicting interpretations of pathogenicity	200796606	RCV000034920\|RCV000163798\|RCV000199873\|RCV001762109\|RCV002280864;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|Human Phenotype	1	241665852	241665852	1:g.241665852T>G	ClinGen:CA189211	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1126C>T (p.Gln376Ter)	2271	FH	Pathogenic/Likely pathogenic	398123160	RCV000078141\|RCV000445587\|RCV002444546;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241665853	241665853	1:g.241665853G>A	ClinGen:CA220373	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1118A>G (p.Asn373Ser)	2271	FH	Conflicting interpretations of pathogenicity	1060499643	RCV000445626\|RCV002525531;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241665861	241665861	NC_000001.10:g.241665861T>C	ClinGen:CA16609362	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1109-7C>T	2271	FH	Conflicting interpretations of pathogenicity	1060504079	RCV000476829\|RCV001100670\|RCV002525650;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241665877	241665877	NC_000001.10:g.241665877G>A	ClinGen:CA16610073	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1108+1G>T	2271	FH	Pathogenic/Likely pathogenic	1057517734	RCV000414171\|RCV001017339\|RCV003335313\|RCV003456067;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667341	241667341	1:g.241667341C>A	ClinGen:CA16042358	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1097G>A (p.Ser366Asn)	2271	FH	Pathogenic/Likely pathogenic	863224004	RCV000200592\|RCV001017278\|RCV002291591;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667353	241667353	1:g.241667353C>T	ClinGen:CA325181	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)	2271	FH	Pathogenic	863223966	RCV000196179\|RCV000220270\|RCV000445606;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667357	241667357	NC_000001.10:g.241667357T>C	ClinGen:CA320604	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1056_1091dup (p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluProGly)	2271	FH	Uncertain significance	-1	RCV002288296;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667358	241667359	241667358	-
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)	2271	FH	Pathogenic/Likely pathogenic	756469140	RCV000196197\|RCV000445586\|RCV000493004\|RCV003462308;	N	MedGen:C3661900\|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:24	1	241667364	241667367	1:g.241667364_241667367del	ClinGen:CA320623	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1084G>A (p.Glu362Lys)	2271	FH	Likely pathogenic	121913119	RCV002281646\|RCV002552593\|RCV003455187;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667366	241667366	1:g.241667366C>T	-
NM_000143.4(FH):c.1067T>A (p.Leu356Ter)	2271	FH	Pathogenic/Likely pathogenic	727503927	RCV000190645\|RCV000790808;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241667383	241667383	1:g.241667383A>T	ClinGen:CA233988	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1064A>T (p.Glu355Val)	2271	FH	Likely pathogenic	-1	RCV002466957;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667386	241667386	NC_000001.10:g.241667386T>A	-
NM_000143.4(FH):c.1063G>T (p.Glu355Ter)	2271	FH	Pathogenic	1060499642	RCV000445617\|RCV001782909;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241667387	241667387	NC_000001.10:g.241667387C>A	ClinGen:CA16609363	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1056dup (p.Leu353fs)	2271	FH	Pathogenic	863224016	RCV000197689\|RCV000494113\|RCV002288799;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667393	241667394	NC_000001.10:g.241667394dup	ClinGen:CA322151	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)	2271	FH	Conflicting interpretations of pathogenicity	755436052	RCV000198662\|RCV000696839\|RCV001100941\|RCV002465557\|RCV003165454;	N	MedGen:C3661900\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241667402	241667402	NC_000001.10:g.241667402G>A	ClinGen:CA323206	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1041del (p.Gly348fs)	2271	FH	Pathogenic	1060499641	RCV000445598\|RCV000575212\|RCV001782908;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	1	241667409	241667409	NC_000001.10:g.241667409del	ClinGen:CA16609364	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)	2271	FH	Pathogenic	121913122	RCV000017622\|RCV000130875\|RCV000197989\|RCV003466863;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667423	241667423	1:g.241667423G>A	ClinGen:CA167294,OMIM:136850.0006	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1022A>G (p.Asp341Gly)	2271	FH	Conflicting interpretations of pathogenicity	1060499640	RCV000445616\|RCV002525530\|RCV003418142;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|	1	241667428	241667428	NC_000001.10:g.241667428T>C	ClinGen:CA16609365	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)	2271	FH	Pathogenic/Likely pathogenic	398123159	RCV000078140\|RCV000220396\|RCV000445596\|RCV003415844\|RCV003460741;	N	MedGen:C3661900\|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	1	241667430	241667430	1:g.241667430A>T	ClinGen:CA285319	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1002T>G (p.Ser334Arg)	2271	FH	Likely pathogenic	2147916185	RCV003236374;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667448	241667448		-
NM_000143.4(FH):c.994G>C (p.Ala332Pro)	2271	FH	Likely pathogenic	-1	RCV002289038;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667456	241667456	241667456	-
NM_000143.4(FH):c.977G>A (p.Gly326Glu)	2271	FH	Likely pathogenic	1553341037	RCV002386007\|RCV002533197\|RCV003451511;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667473	241667473	1:g.241667473C>T	ClinGen:CA345438297	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.965T>G (p.Val322Gly)	2271	FH	Conflicting interpretations of pathogenicity	863224003	RCV000196089\|RCV000445631\|RCV001019611;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241667485	241667485	1:g.241667485A>C	ClinGen:CA320499	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.954_956dup (p.Asp319_Ala320insAsp)	2271	FH	Likely pathogenic	-1	RCV003230783;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667493	241667494		-
NM_000143.4(FH):c.952C>T (p.His318Tyr)	2271	FH	Pathogenic/Likely pathogenic	398123168	RCV000078152\|RCV000445608\|RCV000762893\|RCV002371923\|RCV003460742;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24; Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150	1	241667498	241667498	1:g.241667498G>A	ClinGen:CA285329	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.947C>A (p.Ala316Asp)	2271	FH	Pathogenic/Likely pathogenic	863224002	RCV000199702\|RCV000494152\|RCV003454493;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667503	241667503	1:g.241667503G>T	ClinGen:CA324246	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.936T>G (p.Phe312Leu)	2271	FH	Pathogenic/Likely pathogenic	2147916319	RCV002254382\|RCV003094170;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241667514	241667514	241667514	-
NM_000143.4(FH):c.927G>A (p.Pro309=)	2271	FH	Benign	61737760	RCV000131065\|RCV000179718\|RCV000346503\|RCV000382481\|RCV000589837;	N	MONDO: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:C3661900	1	241667523	241667523	1:g.241667523C>T	ClinGen:CA167599	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.926C>T (p.Pro309Leu)	2271	FH	Conflicting interpretations of pathogenicity	756528378	RCV000230405\|RCV001589168\|RCV002372248\|RCV002487046;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:C3661900\|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:001	1	241667524	241667524	1:g.241667524G>A	ClinGen:CA1478570	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.912_918del (p.Phe305fs)	2271	FH	Pathogenic	794727836	RCV000179717\|RCV000199793\|RCV001018881\|RCV003462288;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667532	241667538	1:g.241667532_241667538del	ClinGen:CA275378	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.917T>C (p.Val306Ala)	2271	FH	Uncertain significance	147991516	RCV000540225\|RCV000569138\|RCV001097195\|RCV001731756\|RCV002490990;	N	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:523\|MedGen:C3661900\|MONDO:MONDO:001	1	241667533	241667533	1:g.241667533A>G	ClinGen:CA1478573	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.907_910del (p.Pro304fs)	2271	FH	Pathogenic	-1	RCV002378559\|RCV003456287;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667540	241667543	241667539	-
NM_000143.4(FH):c.907T>G (p.Leu303Val)	2271	FH	Uncertain significance	1057523697	RCV000445241\|RCV002481331;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523; MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667543	241667543	1:g.241667543A>C	ClinGen:CA16603666	CN169374 not specified;
NM_000143.4(FH):c.905-1G>A	2271	FH	Pathogenic/Likely pathogenic	797044973	RCV000193655\|RCV000493531\|RCV000804152\|RCV001534141;	N	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:24\|MedGen:C3661900	1	241667546	241667546	NC_000001.10:g.241667546C>T	ClinGen:CA347392	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.905-5T>A	2271	FH	Uncertain significance	886046318	RCV000311306\|RCV000398468;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667550	241667550	NC_000001.10:g.241667550A>T	ClinGen:CA10609674	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.904+47G>A	2271	FH	Benign/Likely benign	145209119	RCV000596534\|RCV000830745\|RCV001533678\|RCV001533679;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241669256	241669256	1:g.241669256C>T	ClinGen:CA1478586	CN169374 not specified;
NM_000143.4(FH):c.893_904+7del	2271	FH	Pathogenic/Likely pathogenic	1573881533	RCV001027656\|RCV002511017;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241669296	241669314	1:g.241669296_241669314del	-
NM_000143.4(FH):c.904+1G>A	2271	FH	Pathogenic/Likely pathogenic	1553341148	RCV002372178\|RCV002503771\|RCV002517214\|RCV003316091;	N	MONDO: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:C3661900\|Human Phenotype	1	241669302	241669302	1:g.241669302C>T	-
NM_000143.4(FH):c.892G>C (p.Ala298Pro)	2271	FH	Conflicting interpretations of pathogenicity	201395553	RCV000442479\|RCV000445630\|RCV000493248;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241669315	241669315	1:g.241669315C>G	ClinGen:CA246534	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.839G>A (p.Gly280Asp)	2271	FH	Conflicting interpretations of pathogenicity	863223969	RCV000197030\|RCV001249415\|RCV002433881;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241669368	241669368	1:g.241669368C>T	ClinGen:CA321464	CN169374 not specified;
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del)	2271	FH	Conflicting interpretations of pathogenicity	863223985	RCV000195479\|RCV002288798\|RCV002415846;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241669371	241669391	NC_000001.10:g.241669372_241669392del	ClinGen:CA319820
NM_000143.4(FH):c.824_827dup (p.Thr277fs)	2271	FH	Pathogenic	1659922131	RCV002429988\|RCV002563210\|RCV003142196;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241669379	241669380	1:g.241669379_241669380insCCTC	-
NM_000143.4(FH):c.823G>C (p.Gly275Arg)	2271	FH	Conflicting interpretations of pathogenicity	1060499639	RCV000445614\|RCV000489286\|RCV000494229;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241669384	241669384	NC_000001.10:g.241669384C>G	ClinGen:CA16609366	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.820G>C (p.Ala274Pro)	2271	FH	Likely pathogenic	1060499638	RCV000445594;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241669387	241669387	NC_000001.10:g.241669387C>G	ClinGen:CA16609367	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer)	2271	FH	Pathogenic/Likely pathogenic	1553341163	RCV000522295\|RCV003139736;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241669397	241669398	NC_000001.10:g.241669398_241669399del	ClinGen:CA658657000	CN517202 not provided;
NM_000143.4(FH):c.808del (p.Tyr270fs)	2271	FH	Pathogenic	1060499637	RCV000445636;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241669399	241669399	1:g.241669399_241669399del	ClinGen:CA16609368	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)	2271	FH	Conflicting interpretations of pathogenicity	786202220	RCV000164936\|RCV001559555\|RCV003462155\|RCV003456005;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241669401	241669421	1:g.241669401_241669421del	ClinGen:CA192112	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.805A>G (p.Ile269Val)	2271	FH	Uncertain significance	377015873	RCV000569054\|RCV001241084\|RCV001554283\|RCV002530240;	N	MONDO: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:C3661900	1	241669402	241669402	1:g.241669402T>C	ClinGen:CA40328204	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.776T>C (p.Met259Thr)	2271	FH	Uncertain significance	1407485828	RCV002486553\|RCV002608023;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24; Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241669431	241669431	241669431	-
NM_000143.4(FH):c.739-2A>G	2271	FH	Pathogenic/Likely pathogenic	1553341174	RCV001563611\|RCV002495120\|RCV002537332;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24; Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241669470	241669470	1:g.241669470T>C	-
NM_000143.4(FH):c.739-10T>C	2271	FH	Benign/Likely benign	201971572	RCV000233450\|RCV000245107\|RCV000300539\|RCV001706244;	N	MONDO: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:C3661900	1	241669478	241669478	NC_000001.10:g.241669478A>G	ClinGen:CA1478618	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.738+14A>G	2271	FH	Conflicting interpretations of pathogenicity	765629644	RCV001098957\|RCV001098956\|RCV002556011;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241671889	241671889	1:g.241671889T>C	-
NM_000143.4(FH):c.722_738+3del	2271	FH	Pathogenic	1064792900	RCV000445593\|RCV001026175\|RCV002522733;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	1	241671900	241671919	NC_000001.10:g.241671900_241671919del	ClinGen:CA16609369	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.738+1G>A	2271	FH	Pathogenic/Likely pathogenic	1659988368	RCV002563813\|RCV003336355\|RCV003339546;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241671902	241671902	1:g.241671902C>T	-
NM_000143.4(FH):c.731T>G (p.Leu244Arg)	2271	FH	Conflicting interpretations of pathogenicity	1060499636	RCV000445612\|RCV003168712;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241671910	241671910	NC_000001.10:g.241671910A>C	ClinGen:CA16609370	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.712G>C (p.Asp238His)	2271	FH	Conflicting interpretations of pathogenicity	-1	RCV002367462\|RCV003098478\|RCV003138224;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241671929	241671929	241671929	-
NM_000143.4(FH):c.707C>T (p.Thr236Ile)	2271	FH	Uncertain significance	773382103	RCV002563380\|RCV002507650\|RCV003303462;	N	MedGen:C3661900\|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	1	241671934	241671934	241671934	-
NM_000143.4(FH):c.703C>G (p.His235Asp)	2271	FH	Likely pathogenic	863223968	RCV000445621;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241671938	241671938	NC_000001.10:g.241671938G>C	ClinGen:CA16609371	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.700A>G (p.Thr234Ala)	2271	FH	Pathogenic/Likely pathogenic	372505976	RCV000163828\|RCV000195694\|RCV002498811\|RCV003316008\|RCV003467282;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24; Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|Human Phenotype	1	241671941	241671941	1:g.241671941T>C	ClinGen:CA189288	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.698G>A (p.Arg233His)	2271	FH	Pathogenic	121913123	RCV000017623\|RCV000178717\|RCV000196988\|RCV000493379\|RCV003128387\|RCV003330393;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|\|Human Phenotyp	1	241671943	241671943	1:g.241671943C>T	ClinGen:CA257459,UniProtKB:P07954#VAR_013501,OMIM:136850.0007	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.698G>T (p.Arg233Leu)	2271	FH	Pathogenic/Likely pathogenic	121913123	RCV000017624\|RCV001781272\|RCV002362588;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241671943	241671943	1:g.241671943C>A	ClinGen:CA257461,OMIM:136850.0008	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.671_672del (p.Glu224fs)	2271	FH	Pathogenic	780001199	RCV000017621\|RCV002513083;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241671969	241671970	1:g.241671969_241671970del	ClinGen:CA257458,OMIM:136850.0005	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.668_669del (p.Lys223fs)	2271	FH	Pathogenic/Likely pathogenic	886039364	RCV000255892\|RCV003456041\|RCV003469195;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671972	241671973	1:g.241671972_241671973del	ClinGen:CA10588291	CN517202 not provided;
NM_000143.4(FH):c.655G>A (p.Asp219Asn)	2271	FH	Conflicting interpretations of pathogenicity	11545656	RCV000472774\|RCV001025411\|RCV001098958\|RCV002523294\|RCV003320643;	N	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:523\|MedGen:C3661900\|MedGen:CN169374	1	241671986	241671986	NC_000001.10:g.241671986C>T	ClinGen:CA1478641	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.587_593del (p.His196fs)	2271	FH	Pathogenic	-1	RCV003456333;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241672048	241672054		-
NM_000143.4(FH):c.584T>C (p.Met195Thr)	2271	FH	Pathogenic/Likely pathogenic	863223965	RCV000505795\|RCV002222438\|RCV002354552;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241672057	241672057	1:g.241672057A>G	ClinGen:CA324917	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del)	2271	FH	Pathogenic/Likely pathogenic	1060499635	RCV000445627\|RCV000563738\|RCV002526368;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	1	241672058	241672063	NC_000001.10:g.241672059_241672064del	ClinGen:CA16609372	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.580G>A (p.Ala194Thr)	2271	FH	Uncertain significance	587782215	RCV000130897\|RCV000477037\|RCV000765096\|RCV001731390\|RCV001547779\|RCV003407550;	N	MONDO: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; MONDO:MONDO:0011730,MedGen:C034	1	241672061	241672061	1:g.241672061C>T	ClinGen:CA167337	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.578C>T (p.Thr193Ile)	2271	FH	Conflicting interpretations of pathogenicity	1573883332	RCV002487693\|RCV002537132;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24; Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241672063	241672063	1:g.241672063G>A	-
NM_000143.4(FH):c.574C>T (p.Pro192Ser)	2271	FH	Conflicting interpretations of pathogenicity	1573883345	RCV001024482\|RCV001098959\|RCV001100768\|RCV002551893;	N	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:C3661900	1	241672067	241672067	1:g.241672067G>A	-
NM_000143.4(FH):c.560C>G (p.Ser187Ter)	2271	FH	Pathogenic	398123166	RCV000078150\|RCV000445585\|RCV001024322;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241672081	241672081	1:g.241672081G>C	ClinGen:CA220384	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.560C>T (p.Ser187Leu)	2271	FH	Conflicting interpretations of pathogenicity	398123166	RCV000445604\|RCV000492920\|RCV002522732;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	1	241672081	241672081	NC_000001.10:g.241672081G>A	ClinGen:CA1478650	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.557G>A (p.Ser186Asn)	2271	FH	Likely pathogenic	587782618	RCV000131997\|RCV001029752\|RCV002514749;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241672084	241672084	1:g.241672084C>T	ClinGen:CA169030	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.556-2A>T	2271	FH	Pathogenic/Likely pathogenic	750273092	RCV000445615\|RCV001561083\|RCV002348253;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241672087	241672087	NC_000001.10:g.241672087T>A	ClinGen:CA1478651	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.554A>G (p.Gln185Arg)	2271	FH	Pathogenic/Likely pathogenic	779707997	RCV000196456\|RCV000445603\|RCV000494490;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241675268	241675268	1:g.241675268T>C	ClinGen:CA320867,UniProtKB:P07954#VAR_013500	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.553_554insTG (p.Gln185fs)	2271	FH	Pathogenic	768182640	RCV000445584\|RCV000486167\|RCV000572356\|RCV003470388;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675268	241675269	NC_000001.10:g.241675268_241675269insCA	ClinGen:CA1478668	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.524del (p.Val175fs)	2271	FH	Pathogenic	1060499634	RCV000445619;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241675298	241675298	NC_000001.10:g.241675298del	ClinGen:CA16609373	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.521C>G (p.Pro174Arg)	2271	FH	Conflicting interpretations of pathogenicity	199822819	RCV000022554\|RCV000078149\|RCV000353057\|RCV000492836\|RCV003335052;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	1	241675301	241675301	1:g.241675301G>C	ClinGen:CA220381,OMIM:136850.0010	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.490del (p.Met164fs)	2271	FH	Pathogenic/Likely pathogenic	-1	RCV003316968\|RCV003466053;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675332	241675332		-
NM_000143.4(FH):c.439dup (p.Thr147fs)	2271	FH	Pathogenic	1060499633	RCV000445601\|RCV000657166;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241675382	241675383	NC_000001.10:g.241675384dup	ClinGen:CA16609374	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.415G>A (p.Val139Met)	2271	FH	Conflicting interpretations of pathogenicity	200343823	RCV000810319\|RCV001100769\|RCV001252807\|RCV001021974\|RCV001585739\|RCV003153850;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology	1	241675407	241675407	1:g.241675407C>T	-
NM_000143.4(FH):c.415del (p.Val139fs)	2271	FH	Pathogenic	-1	RCV003450155;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241675407	241675407		-
NM_000143.4(FH):c.404A>G (p.His135Arg)	2271	FH	Conflicting interpretations of pathogenicity	786202833	RCV000165850\|RCV001557300\|RCV003454408;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241675418	241675418	1:g.241675418T>C	ClinGen:CA194346	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer)	2271	FH	Pathogenic	863223995	RCV000195662\|RCV000445600;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241675423	241675427	1:g.241675423_241675427del	ClinGen:CA320029	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.395T>C (p.Leu132Ser)	2271	FH	Uncertain significance	1060499632	RCV000445629;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241675427	241675427	NC_000001.10:g.241675427A>G	ClinGen:CA16609375	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.395del (p.Lys131_Leu132insTer)	2271	FH	Pathogenic	1060499631	RCV000445618;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241675427	241675427	NC_000001.10:g.241675428del	ClinGen:CA16609376	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.382G>A (p.Ala128Thr)	2271	FH	Uncertain significance	1553341620	RCV000530788\|RCV000765097\|RCV002358479\|RCV002528327;	N	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:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,Med	1	241675440	241675440	1:g.241675440C>T	ClinGen:CA345440227	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.379-15A>T	2271	FH	Conflicting interpretations of pathogenicity	374529177	RCV000321597\|RCV000360971\|RCV000436971\|RCV002522125;	N	MONDO: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:C3661900	1	241675458	241675458	NC_000001.10:g.241675458T>A	ClinGen:CA1478691	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.358A>G (p.Ile120Val)	2271	FH	Conflicting interpretations of pathogenicity	199641124	RCV000166997\|RCV000469505\|RCV001101030\|RCV002516512\|RCV003320130;	N	MONDO: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:C3661900\|MedGen:CN169374	1	241676923	241676923	1:g.241676923T>C	ClinGen:CA197225	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.352A>G (p.Asn118Asp)	2271	FH	Uncertain significance	200738857	RCV000808925\|RCV001020531\|RCV002487745\|RCV002538041;	N	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:523; MONDO:MONDO:0011730,MedGen:C034	1	241676929	241676929	1:g.241676929T>C	-
NM_000143.4(FH):c.349G>C (p.Ala117Pro)	2271	FH	Pathogenic/Likely pathogenic	886039363	RCV000255340\|RCV001020456\|RCV003456040;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241676932	241676932	1:g.241676932C>G	ClinGen:CA10588292,UniProtKB:P07954#VAR_013498	CN517202 not provided;
NM_000143.4(FH):c.346A>T (p.Ile116Phe)	2271	FH	Conflicting interpretations of pathogenicity	201532589	RCV000034484\|RCV000463959\|RCV000575301\|RCV001101031;	N	MedGen:C3661900\|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:523	1	241676935	241676935	1:g.241676935T>A	ClinGen:CA215560	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.322C>T (p.Gln108Ter)	2271	FH	Pathogenic/Likely pathogenic	1060499630	RCV000445632\|RCV000626620\|RCV002526367;	N	Human 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,	1	241676959	241676959	1:g.241676959G>A	ClinGen:CA16609377	C0346064 Cutaneous leiomyoma;
NM_000143.4(FH):c.320A>C (p.Asn107Thr)	2271	FH	Pathogenic/Likely pathogenic	121913121	RCV000017620\|RCV000078148\|RCV000493777;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241676961	241676961	1:g.241676961T>G	ClinGen:CA257456,UniProtKB:P07954#VAR_013497,OMIM:136850.0004	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.301_319del (p.Arg101fs)	2271	FH	Pathogenic	1558401094	RCV001018055\|RCV003336138\|RCV002544854;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241676962	241676980	1:g.241676962_241676980del	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.309C>T (p.Ala103=)	2271	FH	Benign	10926501	RCV000125106\|RCV000163273\|RCV000383130\|RCV000327050\|RCV000588869;	N	MedGen:CN169374\|MONDO: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:C3661900	1	241676972	241676972	1:g.241676972G>A	ClinGen:CA187885	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.305C>T (p.Ala102Val)	2271	FH	Conflicting interpretations of pathogenicity	61753295	RCV000165037\|RCV000349307\|RCV000388495\|RCV001582651;	N	MONDO: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:C3661900	1	241676976	241676976	1:g.241676976G>A	ClinGen:CA192361	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.302G>C (p.Arg101Pro)	2271	FH	Pathogenic/Likely pathogenic	75086406	RCV000017625\|RCV000489422\|RCV002433458;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241676979	241676979	1:g.241676979C>G	ClinGen:CA341389,OMIM:136850.0009	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.301C>T (p.Arg101Ter)	2271	FH	Pathogenic	121913120	RCV000017619\|RCV000130873\|RCV000199330\|RCV000515176;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676980	241676980	1:g.241676980G>A	ClinGen:CA167288,OMIM:136850.0003	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.268-2A>G	2271	FH	Conflicting interpretations of pathogenicity	1064793741	RCV000487137\|RCV001390078\|RCV003449186\|RCV003168943;	N	MedGen:C3661900\|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	1	241677015	241677015	1:g.241677015T>C	ClinGen:CA16617119	CN517202 not provided;
NM_000143.4(FH):c.267+1_267+10del	2271	FH	Pathogenic	1060499629	RCV000445611\|RCV002522731;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900	1	241680472	241680481	NC_000001.10:g.241680474_241680483del	ClinGen:CA16609378	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.267+1G>C	2271	FH	Pathogenic	878853691	RCV000445634\|RCV001782718\|RCV002429090;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241680481	241680481	1:g.241680481C>G	ClinGen:CA10581786	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.251T>C (p.Val84Ala)	2271	FH	Uncertain significance	878853692	RCV000765098\|RCV002519779;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523; MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:C3661900	1	241680498	241680498	1:g.241680498A>G	ClinGen:CA10581787	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.239dup (p.Ile81fs)	2271	FH	Pathogenic	1553341942	RCV000445591\|RCV000493657\|RCV000486885\|RCV003463831;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680509	241680510	NC_000001.10:g.241680511dup	ClinGen:CA16609379	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.233dup (p.Asn78fs)	2271	FH	Pathogenic	-1	RCV003450609;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241680515	241680516		-
NM_000143.4(FH):c.224del (p.Ser75fs)	2271	FH	Likely pathogenic	1660242061	RCV001201265;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241680525	241680525	1:g.241680525_241680525del	-
NM_000143.4(FH):c.217G>A (p.Val73Met)	2271	FH	Conflicting interpretations of pathogenicity	201878591	RCV000163293\|RCV000467508\|RCV001532106\|RCV002291575\|RCV003407604;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|	1	241680532	241680532	1:g.241680532C>T	ClinGen:CA187930	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.204T>A (p.Tyr68Ter)	2271	FH	Pathogenic	1060500883	RCV000493845\|RCV001782930\|RCV003449126;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241680545	241680545	NC_000001.10:g.241680545A>T	ClinGen:CA16610089	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.201T>G (p.Tyr67Ter)	2271	FH	Pathogenic	1558402241	RCV001784335\|RCV002422551\|RCV003316800;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241680548	241680548	NC_000001.10:g.241680548A>C	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.194A>T (p.Asp65Val)	2271	FH	Uncertain significance	145116688	RCV000574732\|RCV002491134\|RCV002530335;	N	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:C3661900	1	241680555	241680555	1:g.241680555T>A	ClinGen:CA40335952	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.190A>G (p.Asn64Asp)	2271	FH	Uncertain significance	886046319	RCV000338926\|RCV000387476\|RCV000570874\|RCV002520481;	N	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:140162\|MedGen:C3661900	1	241680559	241680559	NC_000001.10:g.241680559T>C	ClinGen:CA10609927	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.157G>T (p.Glu53Ter)	2271	FH	Pathogenic	863224013	RCV000445623\|RCV001529890\|RCV002402222;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241680592	241680592	1:g.241680592C>A	ClinGen:CA16609380	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.139C>T (p.Gln47Ter)	2271	FH	Pathogenic	863223980	RCV000200269\|RCV000445602\|RCV000494159;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241680610	241680610	1:g.241680610G>A	ClinGen:CA324825	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.133-1G>A	2271	FH	Pathogenic	863224011	RCV000445590;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241680617	241680617	1:g.241680617C>T	ClinGen:CA323663	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.132+5G>T	2271	FH	Uncertain significance	1060499627	RCV000445628;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241682886	241682886	1:g.241682886C>A	ClinGen:CA16609381	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.122C>T (p.Ala41Val)	2271	FH	Conflicting interpretations of pathogenicity	201486221	RCV000163787\|RCV000342312\|RCV000394167\|RCV000837956\|RCV002267906;	N	MONDO: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:C3661900\|MedGen:CN169374	1	241682901	241682901	1:g.241682901G>A	ClinGen:CA189176	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.105G>A (p.Ser35=)	2271	FH	Benign/Likely benign	181655698	RCV000130839\|RCV000230576\|RCV000400500\|RCV000422755\|RCV002514738;	N	MONDO: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:CN169374\|MedGen:C3661900	1	241682918	241682918	1:g.241682918C>T	ClinGen:CA167212	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.77C>T (p.Pro26Leu)	2271	FH	Benign/Likely benign	187226800	RCV000121090\|RCV000227292\|RCV000392281\|RCV000570367\|RCV002483216\|RCV002515870;	N	MedGen: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\|MONDO:MONDO:001	1	241682946	241682946	1:g.241682946G>A	ClinGen:CA289160	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.63C>T (p.Ala21=)	2271	FH	Conflicting interpretations of pathogenicity	555404867	RCV000166876\|RCV000270051\|RCV000370510\|RCV001706088;	N	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:C3661900	1	241682960	241682960	1:g.241682960G>A	ClinGen:CA196927	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.53C>T (p.Pro18Leu)	2271	FH	Benign/Likely benign	201887750	RCV000121088\|RCV000273634\|RCV000331003\|RCV000493989\|RCV000756164\|RCV002498563;	N	MedGen: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:C3661900	1	241682970	241682970	1:g.241682970G>A	ClinGen:CA289157	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.41T>C (p.Leu14Pro)	2271	FH	Uncertain significance	1553342163	RCV000635314\|RCV002331135\|RCV002508241\|RCV003333754;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241682982	241682982	1:g.241682982A>G	ClinGen:CA345442977	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.33G>C (p.Ser11=)	2271	FH	Conflicting interpretations of pathogenicity	200542051	RCV000315971\|RCV000372989\|RCV000564759\|RCV001706443\|RCV002268018;	N	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:C3661900\|MedGen:CN169374	1	241682990	241682990	NC_000001.10:g.241682990C>G	ClinGen:CA1478783	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.12A>G (p.Ala4=)	2271	FH	Conflicting interpretations of pathogenicity	201277370	RCV000285539\|RCV000342804\|RCV000564813\|RCV001711883;	N	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:C3661900	1	241683011	241683011	NC_000001.10:g.241683011T>C	ClinGen:CA10610829	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.7C>G (p.Arg3Gly)	2271	FH	Conflicting interpretations of pathogenicity	202166344	RCV000195609\|RCV000204400\|RCV000346414\|RCV000568788\|RCV001818470;	N	MedGen:C3661900\|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:CN169374	1	241683016	241683016	1:g.241683016G>C	ClinGen:CA319970	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1A>C (p.Met1Leu)	2271	FH	Conflicting interpretations of pathogenicity	776806414	RCV000307949\|RCV000369616\|RCV002418146\|RCV002522126;	N	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:140162\|MedGen:C3661900	1	241683022	241683022	NC_000001.10:g.241683022T>G	ClinGen:CA10609675	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.-11C>T	2271	FH	Conflicting interpretations of pathogenicity	200942733	RCV000199536\|RCV000261877\|RCV000368306\|RCV001529842;	N	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:C3661900	1	241683033	241683033	1:g.241683033G>A	ClinGen:CA324080	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.-14G>C	2271	FH	Uncertain significance	543556537	RCV001097378\|RCV001097377;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241683036	241683036	1:g.241683036C>G	-
NM_000143.3(FH):c.-48G>T	2271	FH	Uncertain significance	886046320	RCV000319482\|RCV000353271;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241683070	241683070	NC_000001.10:g.241683070C>A	ClinGen:CA10609676	C0342770 606812 Fumarase deficiency;
NM_000143.3(FH):c.-57C>G	2271	FH	Conflicting interpretations of pathogenicity	201589544	RCV001099128\|RCV001099129\|RCV002255620;	N	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	1	241683079	241683079	1:g.241683079G>C	-
NM_001083603.3(PTCH1):c.109del (p.Cys37fs)	5727	PTCH1	Uncertain significance	1554710890	RCV000626745;	N	Human 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:523	9	98278994	98278994	NC_000009.11:g.98278997del	ClinGen:CA658797251	C1708350 150800 Multiple cutaneous leiomyomas;

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