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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_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
Single allele	2271	FH	Pathogenic	-1	RCV000850150;	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	237244834	242310908	na	na		-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_000143.3(FH):c.*266A>G	2271	FH	Conflicting interpretations of pathogenicity	rs113667027	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	T	C	1:g.241660862T>C	ClinGen:CA10609655	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.221_222del	2271	FH	Benign/Likely benign	rs112946286	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:CN517202	1	241660906	241660907	TAA	T	NC_000001.10:g.241660906_241660907del	ClinGen:CA10609666	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.*211G>C	2271	FH	Uncertain significance	rs1385240800	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	C	G	1:g.241660917C>G	-
NM_000143.4(FH):c.*102T>C	2271	FH	Conflicting interpretations of pathogenicity	rs200093224	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	A	G	NC_000001.10:g.241661026A>G	ClinGen:CA10610740	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.*92G>T	2271	FH	Uncertain significance	rs202167168	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	C	A	NC_000001.10:g.241661036C>A	ClinGen:CA10609668	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1506dup (p.Pro503fs)	2271	FH	Uncertain significance	rs886041202	RCV000354790\|RCV000445599\|RCV000494476;	N	MedGen:CN517202\|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	G	GT	1:g.241661154_241661155insT	ClinGen:CA10602765	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1500G>A (p.Trp500Ter)	2271	FH	Pathogenic/Likely pathogenic	rs886039368	RCV000254913\|RCV000445633\|RCV000494499;	N	MedGen:CN517202\|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	C	T	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	rs201559643	RCV000228601\|RCV001011810\|RCV001097100\|RCV001589167;	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:CN517202	1	241661179	241661179	T	C	1:g.241661179T>C	ClinGen:CA1478427	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1469del (p.Gly490fs)	2271	FH	Pathogenic/Likely pathogenic	rs1060499645	RCV000445610\|RCV001202946;	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	241661192	241661192	GC	G	NC_000001.10:g.241661193del	ClinGen:CA16609359	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1443C>G (p.Thr481=)	2271	FH	Conflicting interpretations of pathogenicity	rs780200136	RCV000326720\|RCV000366211\|RCV001011606;	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	241661218	241661218	G	C	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	rs367543046	RCV000034483\|RCV000034921\|RCV000164180\|RCV001000649\|RCV001762110;	N	MedGen: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:523	1	241661227	241661228	A	ATTT	1:g.241661227_241661228insTTT	ClinGen:CA190246,OMIM:136850.0012	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1424C>A (p.Ala475Glu)	2271	FH	Uncertain significance	rs863224012	RCV000445597;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241661237	241661237	G	T	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	rs369802820	RCV000034487\|RCV000332300\|RCV000381370\|RCV001011508;	N	MedGen: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	1	241661240	241661240	G	C	1:g.241661240G>C	ClinGen:CA215566	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1421C>T (p.Thr474Ile)	2271	FH	Uncertain significance	rs369802820	RCV000635283\|RCV001011509\|RCV001766357;	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	1	241661240	241661240	G	A	NC_000001.10:g.241661240G>A	ClinGen:CA1478441	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)	2271	FH	Pathogenic/Likely pathogenic	rs863224010	RCV000197211\|RCV000445635\|RCV000706449;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661267	241661267	T	C	1:g.241661267T>C	ClinGen:CA321656	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1298_1340dup (p.Met449fs)	2271	FH	Pathogenic	rs1553340681	RCV000445609;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241663786	241663787	C	CTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGT	NC_000001.10:g.241663787_241663829dup	ClinGen:CA16609360	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1302C>T (p.Cys434=)	2271	FH	Benign	rs2070080	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:CN517202	1	241663825	241663825	G	A	1:g.241663825G>A	ClinGen:CA187893	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1293del (p.Glu432fs)	2271	FH	Pathogenic	rs398123163	RCV000078145\|RCV000461548\|RCV000445588\|RCV000493624;	N	MedGen: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	1	241663834	241663834	CT	C	1:g.241663834_241663834del	ClinGen:CA285325	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1292C>T (p.Thr431Ile)	2271	FH	Uncertain significance	rs201005880	RCV000543314\|RCV001010798\|RCV001098856;	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	1	241663835	241663835	G	A	1:g.241663835G>A	ClinGen:CA40327543	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)	2271	FH	Pathogenic/Likely pathogenic	rs200004220	RCV000078144\|RCV000445624\|RCV000461249\|RCV000492881;	N	MedGen: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:140162	1	241663872	241663872	A	G	1:g.241663872A>G	ClinGen:CA285322	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-5_1237-4insCTCT	2271	FH	Uncertain significance	rs886046316	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	T	TGAGA	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	rs779985493	RCV000231245\|RCV000310725\|RCV001818563;	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	1	241663898	241663899	T	TGAGTGA	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	rs1553340717	RCV000358740\|RCV000399875;	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	241663898	241663899	T	TGAGAGA	NC_000001.10:g.241663900AG[4]	ClinGen:CA10609920	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[23]	2271	FH	Conflicting interpretations of pathogenicity	rs144131869	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:CN517202\|MedGen:CN169374	1	241663902	241663903	T	TGAGAGAGA	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	rs74405673	RCV000270742\|RCV000325826\|RCV001711881;	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:CN517202	1	241663902	241663902	T	A	NC_000001.10:g.241663902T>A	ClinGen:CA10609921	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[25]	2271	FH	Uncertain significance	rs144131869	RCV000313248\|RCV000367974\|RCV001795915;	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:CN517202	1	241663902	241663903	T	TGAGAGAGAGAGA	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	rs144131869	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:CN517202\|MedGen:CN169374	1	241663902	241663903	T	TGAGAGA	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	rs144131869	RCV000362365\|RCV000390052\|RCV001538757;	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:CN517202	1	241663902	241663903	T	TGAGAGAGAGA	NC_000001.10:g.241663903GA[24]	ClinGen:CA10610821	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[18]	2271	FH	Uncertain significance	rs144131869	RCV000260799\|RCV000355616\|RCV001579647;	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:CN517202	1	241663903	241663904	TGA	T	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	rs144131869	RCV000276737\|RCV000386377\|RCV000456048\|RCV001636853;	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:CN517202	1	241663903	241663904	T	TGA	NC_000001.10:g.241663903GA[20]	ClinGen:CA10610742	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-50TC[17]	2271	FH	Uncertain significance	rs144131869	RCV000266800\|RCV000315902;	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	241663903	241663906	TGAGA	T	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	rs144131869	RCV000282143\|RCV000373250\|RCV000455309\|RCV001618510;	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:CN517202	1	241663903	241663906	T	TGAGA	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	rs149241949	RCV000125103\|RCV000321851\|RCV000376619\|RCV000586848;	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:CN517202	1	241665729	241665729	G	A	1:g.241665729G>A	ClinGen:CA290930	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1210G>T (p.Glu404Ter)	2271	FH	Pathogenic	rs797044974	RCV000192733\|RCV001219757\|RCV001579461;	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:CN517202	1	241665769	241665769	C	A	NC_000001.10:g.241665769C>A	ClinGen:CA347361	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1209del (p.Phe403fs)	2271	FH	Pathogenic	rs1060499644	RCV000445613\|RCV001010289\|RCV001851115;	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	1	241665770	241665770	CA	C	NC_000001.10:g.241665773del	ClinGen:CA16609361	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)	2271	FH	Pathogenic	rs863224007	RCV000200752\|RCV000465210\|RCV000445595;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241665790	241665790	C	T	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	rs727503926	RCV000153234\|RCV000217529\|RCV000445620\|RCV001058206;	N	MedGen: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:24	1	241665825	241665825	G	T	1:g.241665825G>T	ClinGen:CA295616	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1138dup (p.Met380fs)	2271	FH	Pathogenic	rs781466938	RCV000445607\|RCV000688524\|RCV001782910;	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:CN517202	1	241665840	241665841	A	AT	1:g.241665840_241665841insT	ClinGen:CA1478537	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	2271	FH	Conflicting interpretations of pathogenicity	rs200796606	RCV000034920\|RCV000163798\|RCV000199873\|RCV001762109;	N	MONDO: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:523	1	241665852	241665852	T	G	1:g.241665852T>G	ClinGen:CA189211	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1126C>T (p.Gln376Ter)	2271	FH	Pathogenic	rs398123160	RCV000078141\|RCV000445587;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241665853	241665853	G	A	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	rs1060499643	RCV000445626\|RCV000806780;	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	241665861	241665861	T	C	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	rs1060504079	RCV000476829\|RCV001100670;	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	241665877	241665877	G	A	NC_000001.10:g.241665877G>A	ClinGen:CA16610073	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)	2271	FH	Pathogenic	rs863223966	RCV000196179\|RCV000220270\|RCV000445606\|RCV000699219;	N	MedGen: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:24	1	241667357	241667357	T	C	NC_000001.10:g.241667357T>C	ClinGen:CA320604	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)	2271	FH	Pathogenic	rs756469140	RCV000196197\|RCV000445586\|RCV000470614\|RCV000493004;	N	MedGen: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:140162	1	241667364	241667367	GTTCA	G	1:g.241667364_241667367del	ClinGen:CA320623	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1067T>A (p.Leu356Ter)	2271	FH	Pathogenic/Likely pathogenic	rs727503927	RCV000190645\|RCV000790808;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:CN517202	1	241667383	241667383	A	T	1:g.241667383A>T	ClinGen:CA233988	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1063G>T (p.Glu355Ter)	2271	FH	Pathogenic	rs1060499642	RCV000445617\|RCV000812408\|RCV001782909;	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:CN517202	1	241667387	241667387	C	A	NC_000001.10:g.241667387C>A	ClinGen:CA16609363	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)	2271	FH	Conflicting interpretations of pathogenicity	rs755436052	RCV000198662\|RCV000696839\|RCV001100941;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241667402	241667402	G	A	NC_000001.10:g.241667402G>A	ClinGen:CA323206	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1041del (p.Gly348fs)	2271	FH	Pathogenic	rs1060499641	RCV000445598\|RCV000575212\|RCV000692002\|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\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667409	241667409	CA	C	NC_000001.10:g.241667409del	ClinGen:CA16609364	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)	2271	FH	Pathogenic	rs121913122	RCV000017622\|RCV000130875\|RCV000197989\|RCV000635284;	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:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667423	241667423	G	A	1:g.241667423G>A	OMIM:136850.0006,ClinGen:CA167294	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1022A>G (p.Asp341Gly)	2271	FH	Uncertain significance	rs1060499640	RCV000445616\|RCV000689213;	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	241667428	241667428	T	C	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	rs398123159	RCV000078140\|RCV000228017\|RCV000220396\|RCV000445596;	N	MedGen: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:523	1	241667430	241667430	A	T	1:g.241667430A>T	ClinGen:CA285319	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.965T>G (p.Val322Gly)	2271	FH	Conflicting interpretations of pathogenicity	rs863224003	RCV000196089\|RCV000445631\|RCV001019611;	N	MedGen:CN517202\|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	A	C	1:g.241667485A>C	ClinGen:CA320499	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.952C>T (p.His318Tyr)	2271	FH	Pathogenic/Likely pathogenic	rs398123168	RCV000078152\|RCV000445608\|RCV000635300\|RCV000762893;	N	MedGen: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 Onto	1	241667498	241667498	G	A	1:g.241667498G>A	ClinGen:CA285329	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.927G>A (p.Pro309=)	2271	FH	Benign	rs61737760	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:CN517202	1	241667523	241667523	C	T	1:g.241667523C>T	ClinGen:CA167599	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.912_918del (p.Phe305fs)	2271	FH	Pathogenic	rs794727836	RCV000179717\|RCV000199793\|RCV000477647\|RCV001018881;	N	Human 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:140162	1	241667532	241667538	TGACAAAA	T	1:g.241667532_241667538del	ClinGen:CA275378	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.917T>C (p.Val306Ala)	2271	FH	Uncertain significance	rs147991516	RCV000540225\|RCV000569138\|RCV001097195\|RCV001731756;	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:CN517202	1	241667533	241667533	A	G	1:g.241667533A>G	ClinGen:CA1478573	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.905-1G>A	2271	FH	Pathogenic/Likely pathogenic	rs797044973	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:CN517202	1	241667546	241667546	C	T	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	rs886046318	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	A	T	NC_000001.10:g.241667550A>T	ClinGen:CA10609674	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.904+47G>A	2271	FH	Likely benign	rs145209119	RCV000596534\|RCV000830745\|RCV001533678\|RCV001533679;	N	MedGen: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:523	1	241669256	241669256	C	T	1:g.241669256C>T	ClinGen:CA1478586	CN169374 not specified;
NM_000143.4(FH):c.893_904+7del	2271	FH	Pathogenic	rs1573881533	RCV001027656;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241669296	241669314	TCACTAACCTGTAAGTGCAG	T	1:g.241669296_241669314del	-
NM_000143.4(FH):c.892G>C (p.Ala298Pro)	2271	FH	Conflicting interpretations of pathogenicity	rs201395553	RCV000442479\|RCV000445630\|RCV000493248\|RCV001048318;	N	MedGen: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:24	1	241669315	241669315	C	G	1:g.241669315C>G	ClinGen:CA246534	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.839G>A (p.Gly280Asp)	2271	FH	Uncertain significance	rs863223969	RCV000197030\|RCV001054397\|RCV001249415;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241669368	241669368	C	T	1:g.241669368C>T	ClinGen:CA321464	CN169374 not specified;
NM_000143.4(FH):c.823G>C (p.Gly275Arg)	2271	FH	Conflicting interpretations of pathogenicity	rs1060499639	RCV000445614\|RCV000489286\|RCV000494229\|RCV000700426;	N	Human 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:24	1	241669384	241669384	C	G	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	rs1060499638	RCV000445594\|RCV001782907;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:CN517202	1	241669387	241669387	C	G	NC_000001.10:g.241669387C>G	ClinGen:CA16609367	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.808del (p.Tyr270fs)	2271	FH	Pathogenic	rs1060499637	RCV000445636;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241669399	241669399	TA	T	1:g.241669399_241669399del	ClinGen:CA16609368	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.805A>G (p.Ile269Val)	2271	FH	Uncertain significance	rs377015873	RCV000569054\|RCV001554283\|RCV001241084;	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	1	241669402	241669402	T	C	1:g.241669402T>C	ClinGen:CA40328204	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.763G>A (p.Val255Ile)	2271	FH	Uncertain significance	rs752144845	RCV001026656\|RCV001273817\|RCV001759919;	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	1	241669444	241669444	C	T	1:g.241669444C>T	-
NM_000143.4(FH):c.739-2A>G	2271	FH	Pathogenic/Likely pathogenic	rs1553341174	RCV000810413\|RCV001563611;	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	241669470	241669470	T	C	1:g.241669470T>C	-
NM_000143.4(FH):c.739-10T>C	2271	FH	Benign/Likely benign	rs201971572	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:CN517202	1	241669478	241669478	A	G	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	rs765629644	RCV001098957\|RCV001098956;	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	241671889	241671889	T	C	1:g.241671889T>C	-
NM_000143.4(FH):c.722_738+3del	2271	FH	Pathogenic	rs1064792900	RCV000445593\|RCV001042262\|RCV001026175;	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	1	241671900	241671919	ATACCTGCCCAAGAGTAAGTG	A	NC_000001.10:g.241671900_241671919del	ClinGen:CA16609369	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.731T>G (p.Leu244Arg)	2271	FH	Likely pathogenic	rs1060499636	RCV000445612;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241671910	241671910	A	C	NC_000001.10:g.241671910A>C	ClinGen:CA16609370	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.703C>G (p.His235Asp)	2271	FH	Likely pathogenic	rs863223968	RCV000445621;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241671938	241671938	G	C	NC_000001.10:g.241671938G>C	ClinGen:CA16609371	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.698G>A (p.Arg233His)	2271	FH	Pathogenic	rs121913123	RCV000017623\|RCV000178717\|RCV000196988\|RCV000493379;	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:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241671943	241671943	C	T	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	rs121913123	RCV000017624\|RCV001781272\|RCV001851896;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671943	241671943	C	A	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	rs780001199	RCV000017621\|RCV001383001;	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	241671969	241671970	ACT	A	1:g.241671969_241671970del	ClinGen:CA257458,OMIM:136850.0005	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.655G>A (p.Asp219Asn)	2271	FH	Conflicting interpretations of pathogenicity	rs11545656	RCV000472774\|RCV001025411\|RCV001098958;	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	1	241671986	241671986	C	T	NC_000001.10:g.241671986C>T	ClinGen:CA1478641	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del)	2271	FH	Pathogenic/Likely pathogenic	rs1060499635	RCV000445627\|RCV000563738;	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	241672058	241672063	ATTGCTG	A	NC_000001.10:g.241672059_241672064del	ClinGen:CA16609372	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.574C>T (p.Pro192Ser)	2271	FH	Conflicting interpretations of pathogenicity	rs1573883345	RCV001024482\|RCV001098959\|RCV001100768;	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	1	241672067	241672067	G	A	1:g.241672067G>A	-
NM_000143.4(FH):c.560C>G (p.Ser187Ter)	2271	FH	Pathogenic	rs398123166	RCV000078150\|RCV000445585\|RCV000554655\|RCV001024322;	N	MedGen: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:140162	1	241672081	241672081	G	C	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	rs398123166	RCV000445604\|RCV000492920\|RCV000800258;	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	1	241672081	241672081	G	A	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	rs587782618	RCV000131997\|RCV001029752\|RCV001057206;	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	1	241672084	241672084	C	T	1:g.241672084C>T	ClinGen:CA169030	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.556-2A>T	2271	FH	Pathogenic/Likely pathogenic	rs750273092	RCV000445615\|RCV001058832\|RCV001561083;	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:CN517202	1	241672087	241672087	T	A	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	rs779707997	RCV000196456\|RCV000445603\|RCV000494490\|RCV000550345;	N	MedGen: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:24	1	241675268	241675268	T	C	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	rs768182640	RCV000445584\|RCV000486167\|RCV000572356\|RCV000799643;	N	Human 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:24	1	241675268	241675269	T	TCA	NC_000001.10:g.241675268_241675269insCA	ClinGen:CA1478668	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.524del (p.Val175fs)	2271	FH	Pathogenic	rs1060499634	RCV000445619;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241675298	241675298	CA	C	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	rs199822819	RCV000022554\|RCV000078149\|RCV000353057\|RCV000492836;	N	MONDO: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:140162	1	241675301	241675301	G	C	1:g.241675301G>C	OMIM:136850.0010,ClinGen:CA220381	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.439dup (p.Thr147fs)	2271	FH	Pathogenic	rs1060499633	RCV000445601\|RCV000657166;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:CN517202	1	241675382	241675383	G	GT	NC_000001.10:g.241675384dup	ClinGen:CA16609374	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.434C>G (p.Ser145Ter)	2271	FH	Pathogenic	rs1573885482	RCV001022335\|RCV001766853\|RCV001784560;	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:CN517202	1	241675388	241675388	G	C	1:g.241675388G>C	-
NM_000143.4(FH):c.415G>A (p.Val139Met)	2271	FH	Uncertain significance	rs200343823	RCV000810319\|RCV001021974\|RCV001100769\|RCV001252807\|RCV001585739;	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\|Human Phenotype Ontology:HP:000	1	241675407	241675407	C	T	1:g.241675407C>T	-
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer)	2271	FH	Pathogenic	rs863223995	RCV000195662\|RCV000445600\|RCV001208788;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675423	241675427	CATTTA	C	1:g.241675423_241675427del	ClinGen:CA320029	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.395T>C (p.Leu132Ser)	2271	FH	Uncertain significance	rs1060499632	RCV000445629;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241675427	241675427	A	G	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	rs1060499631	RCV000445618;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241675427	241675427	TA	T	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	rs1553341620	RCV000530788\|RCV000765097;	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	1	241675440	241675440	C	T	1:g.241675440C>T	ClinGen:CA345440227	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.379-15A>T	2271	FH	Conflicting interpretations of pathogenicity	rs374529177	RCV000321597\|RCV000360971\|RCV000436971;	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	1	241675458	241675458	T	A	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	rs199641124	RCV000166997\|RCV000469505\|RCV001101030;	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	1	241676923	241676923	T	C	1:g.241676923T>C	ClinGen:CA197225	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.346A>T (p.Ile116Phe)	2271	FH	Conflicting interpretations of pathogenicity	rs201532589	RCV000034484\|RCV000463959\|RCV000575301\|RCV001101031;	N	MedGen: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:523	1	241676935	241676935	T	A	1:g.241676935T>A	ClinGen:CA215560	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.327T>G (p.Asp109Glu)	2271	FH	Uncertain significance	rs757312078	RCV000820876\|RCV001766737;	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	241676954	241676954	A	C	1:g.241676954A>C	-
NM_000143.4(FH):c.322C>T (p.Gln108Ter)	2271	FH	Pathogenic/Likely pathogenic	rs1060499630	RCV000445632\|RCV000626620\|RCV000697664;	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	G	A	1:g.241676959G>A	ClinGen:CA16609377	C0346064 Cutaneous leiomyoma;
NM_000143.4(FH):c.320A>C (p.Asn107Thr)	2271	FH	Pathogenic/Likely pathogenic	rs121913121	RCV000017620\|RCV000078148\|RCV000493777\|RCV000813168;	N	Human 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:24	1	241676961	241676961	T	G	1:g.241676961T>G	ClinGen:CA257456,UniProtKB:P07954#VAR_013497,OMIM:136850.0004	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.309C>T (p.Ala103=)	2271	FH	Benign	rs10926501	RCV000125106\|RCV000163273\|RCV000327050\|RCV000383130\|RCV000588869;	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:CN517202	1	241676972	241676972	G	A	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	rs61753295	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:CN517202	1	241676976	241676976	G	A	1:g.241676976G>A	ClinGen:CA192361	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.302G>C (p.Arg101Pro)	2271	FH	Likely pathogenic	rs75086406	RCV000017625\|RCV000489422;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:CN517202	1	241676979	241676979	C	G	1:g.241676979C>G	OMIM:136850.0009,ClinGen:CA341389	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.301C>T (p.Arg101Ter)	2271	FH	Pathogenic	rs121913120	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:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676980	241676980	G	A	1:g.241676980G>A	ClinGen:CA167288,OMIM:136850.0003	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.267+1_267+10del	2271	FH	Pathogenic	rs1060499629	RCV000445611\|RCV001861648;	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	241680472	241680481	ATGCCACTTAC	A	NC_000001.10:g.241680474_241680483del	ClinGen:CA16609378	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.267+1G>C	2271	FH	Pathogenic	rs878853691	RCV000231447\|RCV000445634\|RCV001782718;	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:CN517202	1	241680481	241680481	C	G	1:g.241680481C>G	ClinGen:CA10581786	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.251T>C (p.Val84Ala)	2271	FH	Uncertain significance	rs878853692	RCV000229267\|RCV000765098;	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	1	241680498	241680498	A	G	1:g.241680498A>G	ClinGen:CA10581787	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.239dup (p.Ile81fs)	2271	FH	Pathogenic	rs1553341942	RCV000445591\|RCV000486885\|RCV000493657\|RCV000635285;	N	Human 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:24	1	241680509	241680510	C	CT	NC_000001.10:g.241680511dup	ClinGen:CA16609379	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.224del (p.Ser75fs)	2271	FH	Likely pathogenic	rs1660242061	RCV001201265;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241680525	241680525	AG	A	1:g.241680525_241680525del	-
NM_000143.4(FH):c.190A>G (p.Asn64Asp)	2271	FH	Uncertain significance	rs886046319	RCV000338926\|RCV000387476\|RCV000570874;	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	1	241680559	241680559	T	C	NC_000001.10:g.241680559T>C	ClinGen:CA10609927	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.166A>G (p.Thr56Ala)	2271	FH	Uncertain significance	rs1232573732	RCV000635315\|RCV001766358;	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	241680583	241680583	T	C	1:g.241680583T>C	ClinGen:CA345441963	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.157G>T (p.Glu53Ter)	2271	FH	Pathogenic	rs863224013	RCV000445623\|RCV001529890;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:CN517202	1	241680592	241680592	C	A	1:g.241680592C>A	ClinGen:CA16609380	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.139C>T (p.Gln47Ter)	2271	FH	Pathogenic	rs863223980	RCV000200269\|RCV000445602\|RCV000494159\|RCV000635305;	N	MedGen: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:24	1	241680610	241680610	G	A	1:g.241680610G>A	ClinGen:CA324825	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.133-1G>A	2271	FH	Pathogenic	rs863224011	RCV000445590\|RCV001781574;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523\|MedGen:CN517202	1	241680617	241680617	C	T	1:g.241680617C>T	ClinGen:CA323663	C1708350 150800 Multiple cutaneous leiomyomas;
NM_000143.4(FH):c.132+5G>T	2271	FH	Uncertain significance	rs1060499627	RCV000445628;	N	Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241682886	241682886	C	A	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	rs201486221	RCV000163787\|RCV000342312\|RCV000394167\|RCV000837956;	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:CN517202	1	241682901	241682901	G	A	1:g.241682901G>A	ClinGen:CA189176	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.105G>A (p.Ser35=)	2271	FH	Benign/Likely benign	rs181655698	RCV000130839\|RCV000230576\|RCV000400500\|RCV000422755;	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	1	241682918	241682918	C	T	1:g.241682918C>T	ClinGen:CA167212	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.77C>T (p.Pro26Leu)	2271	FH	Benign/Likely benign	rs187226800	RCV000121090\|RCV000227292\|RCV000392281\|RCV000570367\|RCV001800410;	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:CN517202	1	241682946	241682946	G	A	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	rs555404867	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:CN517202	1	241682960	241682960	G	A	1:g.241682960G>A	ClinGen:CA196927	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.53C>T (p.Pro18Leu)	2271	FH	Benign/Likely benign	rs201887750	RCV000121088\|RCV000273634\|RCV000331003\|RCV000493989\|RCV000756164;	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:CN517202	1	241682970	241682970	G	A	1:g.241682970G>A	ClinGen:CA289157	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.33G>C (p.Ser11=)	2271	FH	Conflicting interpretations of pathogenicity	rs200542051	RCV000315971\|RCV000372989\|RCV000564759\|RCV001706443;	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:CN517202	1	241682990	241682990	C	G	NC_000001.10:g.241682990C>G	ClinGen:CA1478783	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.28C>T (p.Arg10Cys)	2271	FH	Uncertain significance	rs201507555	RCV001039209\|RCV001759736\|RCV001759949;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202\|Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800, Orphanet:523	1	241682995	241682995	G	A	1:g.241682995G>A	-
NM_000143.4(FH):c.12A>G (p.Ala4=)	2271	FH	Conflicting interpretations of pathogenicity	rs201277370	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:CN517202	1	241683011	241683011	T	C	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	rs202166344	RCV000195609\|RCV000204400\|RCV000346414\|RCV000568788\|RCV001818470;	N	MedGen: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:CN169374	1	241683016	241683016	G	C	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	rs776806414	RCV000307949\|RCV000369616;	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	241683022	241683022	T	G	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	rs200942733	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:CN517202	1	241683033	241683033	G	A	1:g.241683033G>A	ClinGen:CA324080	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.-14G>C	2271	FH	Uncertain significance	rs543556537	RCV001097377\|RCV001097378;	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	241683036	241683036	C	G	1:g.241683036C>G	-
NM_000143.3(FH):c.-48G>T	2271	FH	Uncertain significance	rs886046320	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	C	A	NC_000001.10:g.241683070C>A	ClinGen:CA10609676	C0342770 606812 Fumarase deficiency;
NC_000001.11:g.241519779G>C	2271	FH	Conflicting interpretations of pathogenicity	rs201589544	RCV001099128\|RCV001099129;	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	241683079	241683079	G	C	1:g.241683079G>C	-
NM_001083602.3(PTCH1):c.-241del	5727	PTCH1	Uncertain significance	rs1554710890	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	CA	C	NC_000009.11:g.98278997del	ClinGen:CA658797251	C1708350 150800 Multiple cutaneous leiomyomas;

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