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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: Metabolism, Inborn Errors (D008661)
Parent Node: Muscle Hypotonia (D009123)
Parent Node: Psychomotor Disorders (D011596)
..Starting node ..Fumaric aciduria (C538191)
Child Nodes:
Sister Nodes:
..AL-RAQAD SYNDROME (OMIM:616459)
..ALAZAMI-YUAN SYNDROME (OMIM:617126)
..Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation (C000598722)
..Apraxias (D001072) 10
..ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
..BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
..BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
..Bowen-Conradi syndrome (C537081)
..C SYNDROME (OMIM:211750)
..CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
..CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
..CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
..De Hauwere Leroy Adriaenssens syndrome (C535991)
..Developmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..Diaminopentanuria (C565630)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Edinburgh Malformation Syndrome (C563051)
..Fumaric aciduria (C538191)
..Genitopatellar Syndrome (C565255)
..Growth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..HAREL-YOON SYNDROME (OMIM:617183)
..HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
..Hypomyelination, Global Cerebral (C567847) L: 00107;
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 (OMIM:616801)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
..INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559) L: 00108;
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD (OMIM:617450)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
..KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
..Kozlowski Rafinski Klicharska syndrome (C537509)
..MacDermot Winter syndrome (C537714)
..MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
..Megarbane syndrome (C536145)
..MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741) L: 00041;
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..OGDEN SYNDROME (OMIM:300855)
..OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..Psychomotor Agitation (D011595) 1
..THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..VERHEIJ SYNDROME (OMIM:615583)
..ZTTK SYNDROME (OMIM:617140)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4908

Name:

Fumaric aciduria

Definition:

Alternative IDs:

OMIM:606812

ParentIDs:

MESH:D008661|MESH:D009123|MESH:D011596

TreeNumbers:

C10.597.606.881/C538191 |C10.597.613.575/C538191 |C16.320.565/C538191 |C18.452.648/C538191 |C23.888.592.604.882/C538191 |C23.888.592.608.575/C538191

Synonyms:

FMRD |Fumarase deficiency |Fumarate Hydratase Deficiency |Fumaricaciduria |FUMARIC ACIDURIA

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C538191
MeSH: C538191
OMIM: 606812;
MSeqDR :
Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001274	Agenesis of corpus callosum
3	HP:0003355	Aminoaciduria
4	HP:0000463	Anteverted nares
5	HP:0002059	Cerebral atrophy
6	HP:0001396	Cholestasis
7	HP:0002190	Choroid plexus cyst
8	HP:0007620	Cutaneous leiomyoma
9	HP:0005280	Depressed nasal bridge
10	HP:0001508	Failure to thrive
11	HP:0002007	Frontal bossing
12	HP:0001290	Generalized hypotonia
13	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
14	HP:0001263	Global developmental delay NAMDC: Mental retardation
15	HP:0001399	Hepatic failure
16	HP:0000218	High palate
17	HP:0000316	Hypertelorism
18	HP:0002365	Hypoplasia of the brainstem
19	HP:0002187	Intellectual disability, profound
20	HP:0003128	Lactic acidosis
21	HP:0001942	Metabolic acidosis
22	HP:0000252	Microcephaly
23	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
24	HP:0002167	Neurological speech impairment
25	HP:0100954	Open operculum
26	HP:0000648	Optic atrophy
27	HP:0000980	Pallor
28	HP:0001901	Polycythemia
29	HP:0002126	Polymicrogyria
30	HP:0003758	Reduced subcutaneous adipose tissue
31	HP:0004482	Relative macrocephaly
32	HP:0002133	Status epilepticus
33	HP:0000505	Visual impairment

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
NC_000012.11:g.52308281_52308282insAlu	94	ACVRL1	Pathogenic	-1	RCV001385997\|RCV001387523;	N	MONDO:MONDO:0010880,MedGen:C1838163,OMIM:600376, Orphanet:774\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	12	52308281	52308282	na	na	-1	-
NC_000001.10:g.(?_241291947)_(241663758_?)del	2271	FH	Pathogenic	-1	RCV001953611;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241291947	241663758	na	na	-1	-
NC_000001.11:g.(?_241497557)_(241504245_?)del	2271	FH	Pathogenic	-1	RCV000464442;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241660857	241667545	na	na		-	C0342770 606812 Fumarase deficiency;
NC_000001.11:g.(?_241497557)_(241519785_?)del	2271	FH	Pathogenic	-1	RCV000457660;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241660857	241683085	na	na		-	C0342770 606812 Fumarase deficiency;
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;
NC_000001.10:g.(?_241661108)_(242431558_?)del	2271	FH	Pathogenic	-1	RCV001032255;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661108	242431558	na	na	-1	-
NC_000001.10:g.(?_241661118)_(241683032_?)dup	2271	FH	Uncertain significance	-1	RCV000708073;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661118	241683032	na	na		-	C0342770 606812 Fumarase deficiency;
NC_000001.11:g.(?_241497818)_(241504255_?)del	2271	FH	Pathogenic	-1	RCV000802586;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661118	241667555	na	na		-
NC_000001.11:g.(?_241497818)_(241519732_?)del	2271	FH	Pathogenic	-1	RCV000823953;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661118	241683032	na	na		-
NC_000001.11:g.(?_241497818)_(241508795_?)del	2271	FH	Pathogenic	-1	RCV000820593;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661118	241672095	na	na		-
NC_000001.11:g.(?_241497818)_(241502580_?)del	2271	FH	Pathogenic	-1	RCV001033601;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661118	241665880	na	na	-1	-
NC_000001.11:g.(?_241497818)_(241512153_?)del	2271	FH	Pathogenic	-1	RCV001033549;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661118	241675453	na	na	-1	-
NC_000001.10:g.(?_241661122)_(241683028_?)dup	2271	FH	Uncertain significance	-1	RCV000541848;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661122	241683028	na	na		-	C0342770 606812 Fumarase deficiency;
NC_000001.10:g.(?_241661128)_(242034263_?)del	2271	FH	Pathogenic	-1	RCV001032378;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661128	242034263	na	na	-1	-
NC_000001.10:g.(?_241661128)_(242034263_?)dup	2271	FH	Uncertain significance	-1	RCV001033301;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661128	242034263	na	na	-1	-
NC_000001.11:g.(?_241497828)_(241519722_?)dup	2271	FH	Uncertain significance	-1	RCV001031034;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661128	241683022	na	na	-1	-
NC_000001.10:g.(?_241661128)_(241661280_?)del	2271	FH	Pathogenic	-1	RCV001386940;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661128	241661280	na	na	-1	-
NC_000001.10:g.(?_241661128)_(241683022_?)del	2271	FH	Pathogenic	-1	RCV001386938;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661128	241683022	na	na	-1	-
NC_000001.10:g.(?_241661128)_(241667555_?)del	2271	FH	Pathogenic	-1	RCV001953609;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661128	241667555	na	na	-1	-
NM_000143.4(FH):c.1532G>C (p.Ter511Ser)	2271	FH	Uncertain significance	-1	RCV001366632;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661129	241661129	C	G	241661129	-
NM_000143.4(FH):c.1528A>C (p.Lys510Gln)	2271	FH	Uncertain significance	-1	RCV001877499;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661133	241661133	T	G	241661133	-
NM_000143.4(FH):c.1522G>C (p.Gly508Arg)	2271	FH	Uncertain significance	rs1659661545	RCV001218606;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661139	241661139	C	G	1:g.241661139C>G	-
NM_000143.4(FH):c.1522G>T (p.Gly508Cys)	2271	FH	Uncertain significance	-1	RCV002010937;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661139	241661139	C	A	241661139	-
NM_000143.4(FH):c.1521G>A (p.Leu507=)	2271	FH	Likely benign	-1	RCV001429745;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661140	241661140	C	T	241661140	-
NM_000143.4(FH):c.1520T>C (p.Leu507Pro)	2271	FH	Conflicting interpretations of pathogenicity	rs1425094515	RCV000597494\|RCV001379327;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661141	241661141	A	G	1:g.241661141A>G	ClinGen:CA345450002	CN169374 not specified;
NM_000143.4(FH):c.1518G>A (p.Met506Ile)	2271	FH	Uncertain significance	-1	RCV002040031;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661143	241661143	C	T	241661143	-
NM_000143.4(FH):c.1516A>G (p.Met506Val)	2271	FH	Uncertain significance	rs762413315	RCV001321323;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661145	241661145	T	C	241661145	-
NM_000143.4(FH):c.1508_1509insCAAACC (p.Pro503_Lys504dup)	2271	FH	Uncertain significance	rs1060500895	RCV000465377;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661152	241661153	A	AGGTTTG	NC_000001.10:g.241661157_241661158insGGGTTT	ClinGen:CA16610022	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1508C>G (p.Pro503Arg)	2271	FH	Uncertain significance	rs1659661748	RCV001346446;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661153	241661153	G	C	241661153	-
NM_000143.4(FH):c.1503A>G (p.Val501=)	2271	FH	Likely benign	rs1553340502	RCV000635327\|RCV001011928;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241661158	241661158	T	C	1:g.241661158T>C	ClinGen:CA424072498	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1501G>A (p.Val501Ile)	2271	FH	Uncertain significance	rs201893992	RCV001326410;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661160	241661160	C	T	241661160	-
NM_000143.4(FH):c.1499G>A (p.Trp500Ter)	2271	FH	Pathogenic	-1	RCV001390600\|RCV001780378;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241661162	241661162	C	T	241661162	-
NM_000143.4(FH):c.1497del (p.Glu499fs)	2271	FH	Uncertain significance	rs1659662318	RCV001307877;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661164	241661164	AT	A	241661163	-
NM_000143.4(FH):c.1495G>A (p.Glu499Lys)	2271	FH	Uncertain significance	rs750838853	RCV001011782\|RCV001326411\|RCV001585920;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN169374	1	241661166	241661166	C	T	1:g.241661166C>T	-
NM_000143.4(FH):c.1494C>T (p.Asp498=)	2271	FH	Likely benign	-1	RCV002126959;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661167	241661167	G	A	241661167	-
NM_000143.4(FH):c.1489T>C (p.Phe497Leu)	2271	FH	Uncertain significance	-1	RCV001889661;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661172	241661172	A	G	241661172	-
NM_000143.4(FH):c.1484_1488del (p.Glu495fs)	2271	FH	Pathogenic	rs1060500907	RCV000472606;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661173	241661177	ACTGCT	A	NC_000001.10:g.241661173CTGCT[1]	ClinGen:CA16610096	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1484A>G (p.Glu495Gly)	2271	FH	Uncertain significance	-1	RCV002021804;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661177	241661177	T	C	241661177	-
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.1481C>G (p.Ala494Gly)	2271	FH	Uncertain significance	rs752369363	RCV000635307;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661180	241661180	G	C	NC_000001.10:g.241661180G>C	ClinGen:CA345450421	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1481C>T (p.Ala494Val)	2271	FH	Uncertain significance	rs752369363	RCV001210581;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661180	241661180	G	A	1:g.241661180G>A	-
NM_000143.4(FH):c.1480G>C (p.Ala494Pro)	2271	FH	Uncertain significance	rs1553340508	RCV000561988\|RCV001829607;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661181	241661181	C	G	1:g.241661181C>G	ClinGen:CA345450431	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1479A>G (p.Thr493=)	2271	FH	Likely benign	-1	RCV001477299;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661182	241661182	T	C	241661182	-
NM_000143.4(FH):c.1478C>A (p.Thr493Lys)	2271	FH	Uncertain significance	rs1558395446	RCV000707147;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661183	241661183	G	T	NC_000001.10:g.241661183G>T	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1478del (p.Thr493fs)	2271	FH	Pathogenic	-1	RCV001881802;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661183	241661183	TG	T	241661182	-
NM_000143.4(FH):c.1477A>G (p.Thr493Ala)	2271	FH	Uncertain significance	rs777256203	RCV001051111;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661184	241661184	T	C	1:g.241661184T>C	-
NM_000143.4(FH):c.1475_1476del (p.Leu492fs)	2271	FH	Pathogenic	rs886041201	RCV000297629\|RCV000494455\|RCV000806294;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661185	241661186	TGA	T	NC_000001.10:g.241661185GA[1]	ClinGen:CA10602782	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1476C>G (p.Leu492=)	2271	FH	Likely benign	-1	RCV001401200;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661185	241661185	G	C	241661185	-
NM_000143.4(FH):c.1474C>G (p.Leu492Val)	2271	FH	Uncertain significance	rs1659663430	RCV001034756;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661187	241661187	G	C	1:g.241661187G>C	-
NM_000143.4(FH):c.1472A>G (p.Tyr491Cys)	2271	FH	Uncertain significance	rs773801940	RCV000565062\|RCV001211345;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661189	241661189	T	C	NC_000001.10:g.241661189T>C	ClinGen:CA40371583	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1471T>C (p.Tyr491His)	2271	FH	Uncertain significance	rs749713004	RCV000528987\|RCV001811037;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241661190	241661190	A	G	NC_000001.10:g.241661190A>G	ClinGen:CA1478431	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1470C>T (p.Gly490=)	2271	FH	Likely benign	rs137969374	RCV000866059\|RCV001011759;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241661191	241661191	G	A	1:g.241661191G>A	-
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.1468G>C (p.Gly490Arg)	2271	FH	Uncertain significance	rs1553340515	RCV000549720;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661193	241661193	C	G	1:g.241661193C>G	ClinGen:CA345450517	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1467T>C (p.Leu489=)	2271	FH	Likely benign	-1	RCV001502752;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661194	241661194	A	G	241661194	-
NM_000143.4(FH):c.1462G>A (p.Glu488Lys)	2271	FH	Conflicting interpretations of pathogenicity	rs201115573	RCV000226040\|RCV000570137\|RCV001001725\|RCV001550243;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:CN517202	1	241661199	241661199	C	T	1:g.241661199C>T	ClinGen:CA1478433	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1461C>T (p.Ile487=)	2271	FH	Likely benign	rs377091029	RCV000534811\|RCV001011694;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241661200	241661200	G	A	1:g.241661200G>A	ClinGen:CA1478434	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1461C>A (p.Ile487=)	2271	FH	Likely benign	-1	RCV002190095;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661200	241661200	G	T	241661200	-
NM_000143.4(FH):c.1459A>G (p.Ile487Val)	2271	FH	Uncertain significance	-1	RCV001971865;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661202	241661202	T	C	241661202	-
NM_000143.4(FH):c.1457del (p.Ala486fs)	2271	FH	Pathogenic	-1	RCV001389878;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661204	241661204	AG	A	241661203	-
NM_000143.4(FH):c.1457C>A (p.Ala486Asp)	2271	FH	Pathogenic	-1	RCV001387328;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661204	241661204	G	T	241661204	-
NM_000143.4(FH):c.1455T>C (p.Thr485=)	2271	FH	Likely benign	-1	RCV002078980;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661206	241661206	A	G	241661206	-
NM_000143.4(FH):c.1447A>C (p.Lys483Gln)	2271	FH	Uncertain significance	rs1017406473	RCV000635302\|RCV001591415;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241661214	241661214	T	G	NC_000001.10:g.241661214T>G	ClinGen:CA40371654	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1445T>G (p.Leu482Ter)	2271	FH	Pathogenic/Likely pathogenic	rs1064796708	RCV000485484\|RCV000524801;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661216	241661216	A	C	1:g.241661216A>C	ClinGen:CA16617112	C0342770 606812 Fumarase deficiency;
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.1443C>T (p.Thr481=)	2271	FH	Likely benign	rs780200136	RCV000978336\|RCV001396300;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661218	241661218	G	A	1:g.241661218G>A	-
NM_000143.4(FH):c.1441A>G (p.Thr481Ala)	2271	FH	Uncertain significance	-1	RCV001369193;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661220	241661220	T	C	241661220	-
NM_000143.4(FH):c.1439C>G (p.Ser480Ter)	2271	FH	Pathogenic	rs1131691245	RCV000493518\|RCV001856955;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661222	241661222	G	C	NC_000001.10:g.241661222G>C	ClinGen:CA345450690	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1439C>T (p.Ser480Leu)	2271	FH	Uncertain significance	-1	RCV001976599;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661222	241661222	G	A	241661222	-
NM_000143.4(FH):c.1430_1437dup (p.Ser480fs)	2271	FH	Pathogenic	rs863223994	RCV000199224\|RCV000473392;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661223	241661224	A	ATCCATTTT	1:g.241661223_241661224insTCCATTTT	ClinGen:CA323758	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1435G>T (p.Gly479Ter)	2271	FH	Pathogenic	rs1573876584	RCV000814970\|RCV001784440;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241661226	241661226	C	A	1:g.241661226C>A	-
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.1434T>C (p.Asn478=)	2271	FH	Likely benign	rs786202199	RCV000164902\|RCV000841286\|RCV001088563;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661227	241661227	A	G	1:g.241661227A>G	ClinGen:CA192047	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1434T>A (p.Asn478Lys)	2271	FH	Uncertain significance	rs786202199	RCV000801893;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661227	241661227	A	T	1:g.241661227A>T	-
NM_000143.4(FH):c.1433A>G (p.Asn478Ser)	2271	FH	Uncertain significance	rs201886827	RCV000462215;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661228	241661228	T	C	NC_000001.10:g.241661228T>C	ClinGen:CA1478439	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1430A>C (p.Lys477Thr)	2271	FH	Uncertain significance	rs761934894	RCV001055008;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661231	241661231	T	G	1:g.241661231T>G	-
NM_000143.4(FH):c.1429A>G (p.Lys477Glu)	2271	FH	Uncertain significance	rs547519260	RCV001205480;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661232	241661232	T	C	1:g.241661232T>C	-
NM_000143.4(FH):c.1428C>T (p.His476=)	2271	FH	Likely benign	rs199887605	RCV000163868\|RCV000250389\|RCV000635322\|RCV001721056;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241661233	241661233	G	A	1:g.241661233G>A	ClinGen:CA189389	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1427A>G (p.His476Arg)	2271	FH	Uncertain significance	-1	RCV001957425;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661234	241661234	T	C	241661234	-
NM_000143.4(FH):c.1426C>T (p.His476Tyr)	2271	FH	Uncertain significance	-1	RCV001911235;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661235	241661235	G	A	241661235	-
NM_000143.4(FH):c.1422A>T (p.Thr474=)	2271	FH	Likely benign	rs1573876607	RCV000929544\|RCV001412699;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661239	241661239	T	A	1:g.241661239T>A	-
NM_000143.4(FH):c.1422A>G (p.Thr474=)	2271	FH	Likely benign	-1	RCV001424434;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661239	241661239	T	C	241661239	-
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.1415C>T (p.Ala472Val)	2271	FH	Uncertain significance	rs765643179	RCV000819944\|RCV001011457\|RCV001772135;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241661246	241661246	G	A	1:g.241661246G>A	-
NM_000143.4(FH):c.1415C>A (p.Ala472Asp)	2271	FH	Uncertain significance	rs765643179	RCV001352612;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661246	241661246	G	T	241661246	-
NM_000143.4(FH):c.1411A>T (p.Ile471Phe)	2271	FH	Uncertain significance	rs1659667519	RCV001298927;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661250	241661250	T	A	241661250	-
NM_000143.4(FH):c.1410G>A (p.Lys470=)	2271	FH	Likely benign	-1	RCV001433432;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661251	241661251	C	T	241661251	-
NM_000143.4(FH):c.1408A>G (p.Lys470Glu)	2271	FH	Uncertain significance	rs922905323	RCV000550902\|RCV001011420;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241661253	241661253	T	C	NC_000001.10:g.241661253T>C	ClinGen:CA40371763	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1405G>A (p.Ala469Thr)	2271	FH	Uncertain significance	rs1060500906	RCV000457993;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661256	241661256	C	T	NC_000001.10:g.241661256C>T	ClinGen:CA16610027	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1400dup (p.Ala468fs)	2271	FH	Pathogenic	rs863223993	RCV000200182\|RCV001229222;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661260	241661261	C	CT	NC_000001.10:g.241661262dup	ClinGen:CA324743	CN517202 not provided;
NM_000143.4(FH):c.1401G>A (p.Lys467=)	2271	FH	Likely benign	-1	RCV001451022;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661260	241661260	C	T	241661260	-
NM_000143.4(FH):c.1399A>G (p.Lys467Glu)	2271	FH	Uncertain significance	-1	RCV002027228;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661262	241661262	T	C	241661262	-
NM_000143.4(FH):c.1398C>G (p.Asp466Glu)	2271	FH	Uncertain significance	rs1558395525	RCV000693306;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661263	241661263	G	C	NC_000001.10:g.241661263G>C	-	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;
NC_000001.10:g.241661269del	2271	FH	Pathogenic	-1	RCV001385809;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661269	241661269	AC	A	241661268	-
NM_000143.4(FH):c.1392G>A (p.Gly464=)	2271	FH	Likely benign	-1	RCV002101527;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661269	241661269	C	T	241661269	-
NM_000143.4(FH):c.1391G>T (p.Gly464Val)	2271	FH	Uncertain significance	rs1131691250	RCV000635296;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661270	241661270	C	A	1:g.241661270C>A	ClinGen:CA345451179	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1391-1_1391delinsTT	2271	FH	Pathogenic	-1	RCV001386619;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661270	241661271	CC	AA	241661270	-
NM_000143.4(FH):c.1391-1G>C	2271	FH	Pathogenic	rs863223978	RCV000196540\|RCV000797525;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661271	241661271	C	G	1:g.241661271C>G	ClinGen:CA320963	CN517202 not provided;
NM_000143.4(FH):c.1391-1G>A	2271	FH	Pathogenic	rs863223978	RCV000466829;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661271	241661271	C	T	NC_000001.10:g.241661271C>T	ClinGen:CA16610035	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1391-2A>T	2271	FH	Pathogenic	rs863224008	RCV000198930\|RCV000494502\|RCV001853179;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661272	241661272	T	A	NC_000001.10:g.241661272T>A	ClinGen:CA323468	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1391-2A>G	2271	FH	Pathogenic	rs863224008	RCV001215814\|RCV001780135;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241661272	241661272	T	C	1:g.241661272T>C	-
NM_000143.4(FH):c.1391-4T>C	2271	FH	Likely benign	rs760376174	RCV000936469;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661274	241661274	A	G	1:g.241661274A>G	-
NM_000143.4(FH):c.1391-9T>G	2271	FH	Likely benign	-1	RCV002105226;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661279	241661279	A	C	241661279	-
NM_000143.4(FH):c.1391-11T>C	2271	FH	Likely benign	-1	RCV002166962;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661281	241661281	A	G	241661281	-
NM_000143.4(FH):c.1391-15T>C	2271	FH	Likely benign	-1	RCV002087832;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661285	241661285	A	G	241661285	-
NM_000143.4(FH):c.1391-19C>A	2271	FH	Likely benign	-1	RCV002081685;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661289	241661289	G	T	241661289	-
NM_000143.4(FH):c.1391-269A>G	2271	FH	Conflicting interpretations of pathogenicity	-1	RCV001553262\|RCV002032595;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241661539	241661539	T	C	241661539	-
NM_000143.4(FH):c.1390+6T>C	2271	FH	Uncertain significance	rs1338650106	RCV001203805;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663731	241663731	A	G	1:g.241663731A>G	-
NM_000143.4(FH):c.1390+6T>A	2271	FH	Uncertain significance	-1	RCV001360945;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663731	241663731	A	T	241663731	-
NM_000143.4(FH):c.1390+5G>A	2271	FH	Uncertain significance	-1	RCV001373130;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663732	241663732	C	T	241663732	-
NM_000143.4(FH):c.1390+4A>T	2271	FH	Uncertain significance	-1	RCV001922958;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663733	241663733	T	A	241663733	-
NM_000143.4(FH):c.1390+2T>C	2271	FH	Likely pathogenic	rs1558396285	RCV000702821;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663735	241663735	A	G	NC_000001.10:g.241663735A>G	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1390+1G>T	2271	FH	Pathogenic/Likely pathogenic	rs886039367	RCV000255853\|RCV001011336\|RCV001251427;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663736	241663736	C	A	1:g.241663736C>A	ClinGen:CA10588288,OMIM:136850.0013	CN517202 not provided;
NM_000143.4(FH):c.1385A>G (p.His462Arg)	2271	FH	Uncertain significance	-1	RCV001988621;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663742	241663742	T	C	241663742	-
NM_000143.4(FH):c.1384C>T (p.His462Tyr)	2271	FH	Uncertain significance	rs201625211	RCV000635290;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663743	241663743	G	A	1:g.241663743G>A	ClinGen:CA40327534	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1379A>G (p.Asn460Ser)	2271	FH	Uncertain significance	rs767253363	RCV000536299;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663748	241663748	T	C	1:g.241663748T>C	ClinGen:CA1478469	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs)	2271	FH	Pathogenic	rs863223992	RCV000198336\|RCV000471694\|RCV000494183;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241663756	241663757	T	TGTGA	NC_000001.10:g.241663758_241663759insGAGT	ClinGen:CA322840	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1366G>C (p.Val456Leu)	2271	FH	Uncertain significance	rs200244096	RCV000569843\|RCV001036638;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663761	241663761	C	G	1:g.241663761C>G	ClinGen:CA40327537	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1362G>A (p.Met454Ile)	2271	FH	Uncertain significance	rs766177929	RCV000799539;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663765	241663765	C	T	1:g.241663765C>T	-
NM_000143.4(FH):c.1361T>C (p.Met454Thr)	2271	FH	Uncertain significance	-1	RCV001367319;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663766	241663766	A	G	241663766	-
NM_000143.4(FH):c.1359A>G (p.Leu453=)	2271	FH	Likely benign	-1	RCV002085713;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663768	241663768	T	C	241663768	-
NM_000143.4(FH):c.1358T>C (p.Leu453Pro)	2271	FH	Pathogenic	-1	RCV001781104\|RCV002034591;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663769	241663769	A	G	241663769	-
NM_000143.4(FH):c.1357C>G (p.Leu453Val)	2271	FH	Uncertain significance	-1	RCV001934862;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663770	241663770	G	C	241663770	-
NM_000143.4(FH):c.1354T>A (p.Ser452Thr)	2271	FH	Uncertain significance	rs201388169	RCV000686337;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663773	241663773	A	T	1:g.241663773A>T	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1351G>T (p.Glu451Ter)	2271	FH	Pathogenic	rs1558396320	RCV000698371\|RCV001784332;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241663776	241663776	C	A	NC_000001.10:g.241663776C>A	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1348A>G (p.Asn450Asp)	2271	FH	Uncertain significance	rs1659742832	RCV001050421;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663779	241663779	T	C	1:g.241663779T>C	-
NM_000143.4(FH):c.1348A>C (p.Asn450His)	2271	FH	Uncertain significance	-1	RCV001925883;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663779	241663779	T	G	241663779	-
NM_000143.4(FH):c.1347del (p.Met449fs)	2271	FH	Pathogenic	rs1060500903	RCV000465683;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663780	241663780	TC	T	NC_000001.10:g.241663780del	ClinGen:CA16610100	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1347G>C (p.Met449Ile)	2271	FH	Uncertain significance	rs376502356	RCV001301673;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663780	241663780	C	G	241663780	-
NM_000143.4(FH):c.1342C>T (p.Leu448=)	2271	FH	Likely benign	-1	RCV001446167;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663785	241663785	G	A	241663785	-
NM_000143.4(FH):c.1341G>A (p.Lys447=)	2271	FH	Likely benign	rs748363858	RCV000871502\|RCV002064674;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663786	241663786	C	T	1:g.241663786C>T	-
NM_000143.4(FH):c.1340A>G (p.Lys447Arg)	2271	FH	Uncertain significance	-1	RCV001362377;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663787	241663787	T	C	241663787	-
NM_000143.4(FH):c.1339A>T (p.Lys447Ter)	2271	FH	Pathogenic	rs863223977	RCV000493806\|RCV000810856;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663788	241663788	T	A	1:g.241663788T>A	ClinGen:CA324795	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1338C>T (p.Asn446=)	2271	FH	Likely benign	-1	RCV001496706;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663789	241663789	G	A	241663789	-
NM_000143.4(FH):c.1338C>G (p.Asn446Lys)	2271	FH	Uncertain significance	-1	RCV002038051;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663789	241663789	G	C	241663789	-
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs)	2271	FH	Pathogenic	rs1553340686	RCV000478909\|RCV000799222;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663790	241663791	T	TTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTC	NC_000001.10:g.241663791_241663833dup	ClinGen:CA16617114	CN517202 not provided;
NM_000143.4(FH):c.1337A>G (p.Asn446Ser)	2271	FH	Uncertain significance	-1	RCV001886064;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663790	241663790	T	C	241663790	-
NM_000143.4(FH):c.1328_1331dup (p.Ile445fs)	2271	FH	Pathogenic	rs1573878004	RCV000819922;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663795	241663796	C	CCTTT	1:g.241663795_241663796insCTTT	-
NM_000143.4(FH):c.1330A>G (p.Arg444Gly)	2271	FH	Uncertain significance	rs749266351	RCV000695735;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663797	241663797	T	C	NC_000001.10:g.241663797T>C	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1330A>C (p.Arg444=)	2271	FH	Likely benign	rs749266351	RCV000931969\|RCV001408310;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663797	241663797	T	G	1:g.241663797T>G	-
NM_000143.4(FH):c.1327G>T (p.Glu443Ter)	2271	FH	Pathogenic	rs1553340687	RCV000792011\|RCV001781573;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241663800	241663800	C	A	1:g.241663800C>A	-
NM_000143.4(FH):c.1326A>G (p.Thr442=)	2271	FH	Likely benign	-1	RCV001468709;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663801	241663801	T	C	241663801	-
NM_000143.4(FH):c.1325C>G (p.Thr442Arg)	2271	FH	Uncertain significance	rs1060500899	RCV000470446;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663802	241663802	G	C	NC_000001.10:g.241663802G>C	ClinGen:CA16610101	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1324A>G (p.Thr442Ala)	2271	FH	Uncertain significance	rs771503401	RCV001056986;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663803	241663803	T	C	1:g.241663803T>C	-
NM_000143.4(FH):c.1323T>A (p.Asn441Lys)	2271	FH	Uncertain significance	-1	RCV001988769;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663804	241663804	A	T	241663804	-
NM_000143.4(FH):c.1322A>G (p.Asn441Ser)	2271	FH	Uncertain significance	rs1357584529	RCV000635319;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663805	241663805	T	C	NC_000001.10:g.241663805T>C	ClinGen:CA345436593	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1314C>T (p.Ile438=)	2271	FH	Likely benign	rs140873869	RCV000471892\|RCV000570892\|RCV001577054;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241663813	241663813	G	A	NC_000001.10:g.241663813G>A	ClinGen:CA1478480	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1310del (p.Gly437fs)	2271	FH	Pathogenic	-1	RCV001915444;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663817	241663817	TC	T	241663816	-
NM_000143.4(FH):c.1308G>A (p.Val436=)	2271	FH	Likely benign	rs201535626	RCV000466149\|RCV001653838;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241663819	241663819	C	T	NC_000001.10:g.241663819C>T	ClinGen:CA1478481	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1306G>T (p.Val436Leu)	2271	FH	Uncertain significance	rs1324526971	RCV000635310;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663821	241663821	C	A	NC_000001.10:g.241663821C>A	ClinGen:CA345436664	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1305G>A (p.Val435=)	2271	FH	Likely benign	rs772415507	RCV000610310\|RCV001459908;	N	MedGen:CN169374\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663822	241663822	C	T	1:g.241663822C>T	ClinGen:CA424075503	CN169374 not specified;
NM_000143.4(FH):c.1305G>T (p.Val435=)	2271	FH	Likely benign	-1	RCV001471904;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663822	241663822	C	A	241663822	-
NM_000143.4(FH):c.1304T>C (p.Val435Ala)	2271	FH	Uncertain significance	-1	RCV002031945;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663823	241663823	A	G	241663823	-
NM_000143.4(FH):c.1303G>A (p.Val435Met)	2271	FH	Uncertain significance	rs147528200	RCV000121094\|RCV000473170\|RCV000571469\|RCV001564388;	N	MedGen:CN169374\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241663824	241663824	C	T	1:g.241663824C>T	ClinGen:CA159749	C0342770 606812 Fumarase deficiency;
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.1301G>A (p.Cys434Tyr)	2271	FH	Conflicting interpretations of pathogenicity	rs398123164	RCV000078146\|RCV000234386\|RCV000492797;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241663826	241663826	C	T	1:g.241663826C>T	ClinGen:CA285326	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1300T>C (p.Cys434Arg)	2271	FH	Uncertain significance	rs1659745968	RCV001226525;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663827	241663827	A	G	1:g.241663827A>G	-
NM_000143.4(FH):c.1299C>T (p.Asn433=)	2271	FH	Benign/Likely benign	rs201994824	RCV000868750\|RCV001010585\|RCV001593084;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241663828	241663828	G	A	1:g.241663828G>A	-
NM_000143.4(FH):c.1297A>T (p.Asn433Tyr)	2271	FH	Uncertain significance	-1	RCV001903143;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663830	241663830	T	A	241663830	-
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.1293A>G (p.Thr431=)	2271	FH	Likely benign	rs772800627	RCV000575728\|RCV001421518;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663834	241663834	T	C	1:g.241663834T>C	ClinGen:CA1478484	C0027672 Hereditary cancer-predisposing syndrome;
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.1291A>G (p.Thr431Ala)	2271	FH	Uncertain significance	rs1315943292	RCV001237154;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663836	241663836	T	C	1:g.241663836T>C	-
NM_000143.4(FH):c.1287del (p.Phe430fs)	2271	FH	Pathogenic	rs1659746788	RCV001224023;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663840	241663840	AG	A	1:g.241663840_241663840del	-
NM_000143.4(FH):c.1287C>T (p.Ser429=)	2271	FH	Likely benign	-1	RCV002218589;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663840	241663840	G	A	241663840	-
NM_000143.4(FH):c.1286C>G (p.Ser429Cys)	2271	FH	Uncertain significance	rs1558396375	RCV000706141;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663841	241663841	G	C	NC_000001.10:g.241663841G>C	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1283T>C (p.Val428Ala)	2271	FH	Likely benign	-1	RCV002193802;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663844	241663844	A	G	241663844	-
NM_000143.4(FH):c.1282G>C (p.Val428Leu)	2271	FH	Uncertain significance	rs1558396381	RCV000705052;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663845	241663845	C	G	NC_000001.10:g.241663845C>G	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1280del (p.Ala426_Ser427insTer)	2271	FH	Pathogenic	-1	RCV001383078;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663847	241663847	TG	T	241663846	-
NM_000143.4(FH):c.1277C>A (p.Ala426Asp)	2271	FH	Uncertain significance	rs1553340703	RCV000558203;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663850	241663850	G	T	1:g.241663850G>T	ClinGen:CA345436795	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1270G>A (p.Gly424Arg)	2271	FH	Uncertain significance	rs1553340705	RCV000635297;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663857	241663857	C	T	1:g.241663857C>T	ClinGen:CA345436828	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1269G>A (p.Leu423=)	2271	FH	Likely benign	-1	RCV001474256;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663858	241663858	C	T	241663858	-
NM_000143.4(FH):c.1268T>G (p.Leu423Arg)	2271	FH	Conflicting interpretations of pathogenicity	rs863224009	RCV000196004\|RCV001010667\|RCV001853180;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663859	241663859	A	C	1:g.241663859A>C	ClinGen:CA320395	CN517202 not provided;
NM_000143.4(FH):c.1263G>T (p.Arg421Ser)	2271	FH	Uncertain significance	rs777409218	RCV001070737;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663864	241663864	C	A	1:g.241663864C>A	-
NM_000143.4(FH):c.1259_1262dup (p.Arg421fs)	2271	FH	Pathogenic	-1	RCV001386069;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663864	241663865	C	CCTGG	241663864	-
NM_000143.4(FH):c.1263G>C (p.Arg421Ser)	2271	FH	Uncertain significance	-1	RCV001984412;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663864	241663864	C	G	241663864	-
NM_000143.4(FH):c.1262G>C (p.Arg421Thr)	2271	FH	Uncertain significance	rs1659747962	RCV001062135;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663865	241663865	C	G	1:g.241663865C>G	-
NM_000143.4(FH):c.1262G>T (p.Arg421Met)	2271	FH	Uncertain significance	rs1659747962	RCV001222615;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663865	241663865	C	A	1:g.241663865C>A	-
NM_000143.4(FH):c.1261A>G (p.Arg421Gly)	2271	FH	Uncertain significance	rs1659748055	RCV001345539;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663866	241663866	T	C	241663866	-
NM_000143.4(FH):c.1259C>T (p.Ala420Val)	2271	FH	Uncertain significance	rs766377516	RCV001305118;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663868	241663868	G	A	241663868	-
NM_000143.4(FH):c.1259C>A (p.Ala420Asp)	2271	FH	Uncertain significance	rs766377516	RCV001318969;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663868	241663868	G	T	241663868	-
NM_000143.4(FH):c.1256C>T (p.Ser419Leu)	2271	FH	Conflicting interpretations of pathogenicity	rs1131691244	RCV000494270\|RCV000635292;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663871	241663871	G	A	1:g.241663871G>A	ClinGen:CA345436872	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.1254C>T (p.His418=)	2271	FH	Likely benign	-1	RCV001436971;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663873	241663873	G	A	241663873	-
NM_000143.4(FH):c.1251dup (p.His418fs)	2271	FH	Pathogenic	rs1553340708	RCV000543359;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663875	241663876	G	GT	1:g.241663875_241663876insT	ClinGen:CA658656998	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1249T>C (p.Leu417=)	2271	FH	Likely benign	-1	RCV001453898;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663878	241663878	A	G	241663878	-
NM_000143.4(FH):c.1248G>A (p.Val416=)	2271	FH	Likely benign	-1	RCV001416801;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663879	241663879	C	T	241663879	-
NM_000143.4(FH):c.1247del (p.Val416fs)	2271	FH	Pathogenic	-1	RCV001958572;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663880	241663880	CA	C	241663879	-
NM_000143.4(FH):c.1243A>C (p.Asn415His)	2271	FH	Uncertain significance	-1	RCV002038853;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663884	241663884	T	G	241663884	-
NM_000143.4(FH):c.1241A>G (p.Lys414Arg)	2271	FH	Uncertain significance	-1	RCV001886173;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663886	241663886	T	C	241663886	-
NM_000143.4(FH):c.1240A>T (p.Lys414Ter)	2271	FH	Pathogenic	rs1573878145	RCV001010521\|RCV001860640;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663887	241663887	T	A	1:g.241663887T>A	-
NM_000143.4(FH):c.1240A>G (p.Lys414Glu)	2271	FH	Uncertain significance	rs1573878145	RCV001305441;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663887	241663887	T	C	241663887	-
NM_000143.4(FH):c.1237-1G>T	2271	FH	Likely pathogenic	rs1573878149	RCV001010486\|RCV001231127;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663891	241663891	C	A	1:g.241663891C>A	-
NM_000143.4(FH):c.1237-15CTCA[4]	2271	FH	Likely benign	rs750898743	RCV000472429;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663893	241663894	T	TTGAG	NC_000001.10:g.241663894TGAG[4]	ClinGen:CA1478487	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-3A>T	2271	FH	Uncertain significance	-1	RCV001920525;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663893	241663893	T	A	241663893	-
NM_000143.4(FH):c.1237-3A>G	2271	FH	Uncertain significance	-1	RCV002000844;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663893	241663893	T	C	241663893	-
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.1237-15CTCA[2]	2271	FH	Likely benign	rs750898743	RCV000934110;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663894	241663897	TTGAG	T	1:g.241663894_241663897del	-
NM_000143.4(FH):c.1237-4A>C	2271	FH	Likely benign	-1	RCV001399512;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663894	241663894	T	G	241663894	-
NM_000143.4(FH):c.1237-5C>T	2271	FH	Likely benign	rs200926050	RCV000462458;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663895	241663895	G	A	NC_000001.10:g.241663895G>A	ClinGen:CA16610039	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-5C>G	2271	FH	Uncertain significance	rs200926050	RCV000803612;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663895	241663895	G	C	1:g.241663895G>C	-
NM_000143.4(FH):c.1237-14_1237-5del	2271	FH	Likely benign	-1	RCV001461280;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663895	241663904	TGAGTGAGTGA	T	241663894	-
NM_000143.4(FH):c.1237-7C>T	2271	FH	Conflicting interpretations of pathogenicity	rs376260223	RCV000485230\|RCV001084787;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663897	241663897	G	A	1:g.241663897G>A	ClinGen:CA1478491	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.1237-10_1237-9dup	2271	FH	Likely benign	rs1553340717	RCV000476900;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663898	241663899	T	TGA	NC_000001.10:g.241663900_241663901dup	ClinGen:CA1478493	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-9_1237-8insCTCT	2271	FH	Likely benign	rs1553340717	RCV000870636;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663898	241663899	T	TGAGA	1:g.241663898_241663899insGAGA	-
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCTCT	2271	FH	Likely benign	rs1553340717	RCV000954570\|RCV001404596;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663898	241663899	T	TGAGAGAGAGAGAGAGA	1:g.241663898_241663899insGAGAGAGAGAGAGAGA	-
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCTCTCT	2271	FH	Likely benign	-1	RCV001411167;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663898	241663899	T	TGAGAGAGAGAGAGAGAGA	241663898	-
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCT	2271	FH	Likely benign	-1	RCV001498183;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663898	241663899	T	TGAGAGAGAGAGAGA	241663898	-
NM_000143.4(FH):c.1237-16_1237-9dup	2271	FH	Likely benign	-1	RCV002212324;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663898	241663899	T	TGAGTGAGA	241663898	-
NM_000143.4(FH):c.1237-9C>T	2271	FH	Likely benign	rs767413280	RCV000456815\|RCV001704566;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241663899	241663899	G	A	NC_000001.10:g.241663899G>A	ClinGen:CA1478495	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1237-10T>C	2271	FH	Likely benign	-1	RCV002214896;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241663900	241663900	A	G	241663900	-
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+16G>C	2271	FH	Likely benign	-1	RCV002149235;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665727	241665727	C	G	241665727	-
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.1236+14C>A	2271	FH	Likely benign	-1	RCV002202128;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665729	241665729	G	T	241665729	-
NC_000001.10:g.(?_241665733)_(241667555_?)del	2271	FH	Pathogenic	-1	RCV001951075;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665733	241667555	na	na	-1	-
NM_000143.4(FH):c.1236+5G>A	2271	FH	Uncertain significance	-1	RCV001937525;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665738	241665738	C	T	241665738	-
NM_000143.4(FH):c.1236+1G>C	2271	FH	Pathogenic	rs1131691249	RCV000493187\|RCV000804854;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665742	241665742	C	G	1:g.241665742C>G	ClinGen:CA345437205	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1236+1G>A	2271	FH	Pathogenic	rs1131691249	RCV000635306;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665742	241665742	C	T	1:g.241665742C>T	ClinGen:CA345437207	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1236G>A (p.Met412Ile)	2271	FH	Uncertain significance	rs1573879248	RCV000812764;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665743	241665743	C	T	1:g.241665743C>T	-
NM_000143.4(FH):c.1231A>G (p.Met411Val)	2271	FH	Uncertain significance	rs201381362	RCV000820725\|RCV001010457;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241665748	241665748	T	C	1:g.241665748T>C	-
NM_000143.4(FH):c.1229C>T (p.Pro410Leu)	2271	FH	Uncertain significance	rs1057517735	RCV000412803\|RCV001850981;	N	MedGen:CN169374\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665750	241665750	G	A	1:g.241665750G>A	ClinGen:CA16042326	CN169374 not specified;
NM_000143.4(FH):c.1229C>G (p.Pro410Arg)	2271	FH	Uncertain significance	rs1057517735	RCV001064326;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665750	241665750	G	C	1:g.241665750G>C	-
NM_000143.4(FH):c.1228C>T (p.Pro410Ser)	2271	FH	Uncertain significance	-1	RCV001897860;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665751	241665751	G	A	241665751	-
NM_000143.4(FH):c.1227G>A (p.Lys409=)	2271	FH	Likely benign	rs774493741	RCV001010436\|RCV001459811;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665752	241665752	C	T	1:g.241665752C>T	-
NM_000143.4(FH):c.1227G>C (p.Lys409Asn)	2271	FH	Uncertain significance	rs774493741	RCV001044168;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665752	241665752	C	G	1:g.241665752C>G	-
NM_000143.4(FH):c.1216A>G (p.Asn406Asp)	2271	FH	Uncertain significance	rs876659362	RCV000216325\|RCV001048777;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665763	241665763	T	C	1:g.241665763T>C	ClinGen:CA10577683	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1212G>A (p.Glu404=)	2271	FH	Likely benign	rs752558644	RCV000980692\|RCV001408336;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665767	241665767	C	T	1:g.241665767C>T	-
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.1205A>G (p.His402Arg)	2271	FH	Conflicting interpretations of pathogenicity	rs886039366	RCV000255487\|RCV000533307;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665774	241665774	T	C	1:g.241665774T>C	ClinGen:CA10588289	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1205del (p.His402fs)	2271	FH	Pathogenic	rs1558397011	RCV000702019;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665774	241665774	AT	A	NC_000001.10:g.241665774del	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1205A>T (p.His402Leu)	2271	FH	Likely pathogenic	-1	RCV001379716;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665774	241665774	T	A	241665774	-
NM_000143.4(FH):c.1204C>T (p.His402Tyr)	2271	FH	Uncertain significance	rs760360724	RCV000698203;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665775	241665775	G	A	1:g.241665775G>A	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1202G>A (p.Gly401Glu)	2271	FH	Conflicting interpretations of pathogenicity	rs1573879289	RCV001010204\|RCV001860631;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665777	241665777	C	T	1:g.241665777C>T	-
NM_000143.4(FH):c.1200T>G (p.Asn400Lys)	2271	FH	Uncertain significance	rs1659805291	RCV001349330;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665779	241665779	A	C	241665779	-
NM_000143.4(FH):c.1200T>C (p.Asn400=)	2271	FH	Likely benign	-1	RCV002141602;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665779	241665779	A	G	241665779	-
NM_000143.4(FH):c.1199A>G (p.Asn400Ser)	2271	FH	Uncertain significance	rs764430466	RCV000568126\|RCV001223310;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665780	241665780	T	C	1:g.241665780T>C	ClinGen:CA1478531	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1197C>T (p.Ser399=)	2271	FH	Likely benign	-1	RCV001425203;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665782	241665782	G	A	241665782	-
NM_000143.4(FH):c.1196G>A (p.Ser399Asn)	2271	FH	Uncertain significance	rs1659805662	RCV001067114;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665783	241665783	C	T	1:g.241665783C>T	-
NM_000143.4(FH):c.1195A>G (p.Ser399Gly)	2271	FH	Uncertain significance	rs1372936109	RCV000686986;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665784	241665784	T	C	NC_000001.10:g.241665784T>C	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1194C>T (p.Gly398=)	2271	FH	Uncertain significance	rs1659805814	RCV001041138;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665785	241665785	G	A	1:g.241665785G>A	-
NM_000143.4(FH):c.1194C>A (p.Gly398=)	2271	FH	Likely benign	-1	RCV002151180;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665785	241665785	G	T	241665785	-
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.1188C>T (p.Val396=)	2271	FH	Likely benign	-1	RCV001421543;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665791	241665791	G	A	241665791	-
NM_000143.4(FH):c.1187T>G (p.Val396Gly)	2271	FH	Uncertain significance	-1	RCV001979602;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665792	241665792	A	C	241665792	-
NM_000143.4(FH):c.1186G>C (p.Val396Leu)	2271	FH	Uncertain significance	-1	RCV001908143;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665793	241665793	C	G	241665793	-
NM_000143.4(FH):c.1184C>T (p.Thr395Ile)	2271	FH	Uncertain significance	rs878853690	RCV000228405;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665795	241665795	G	A	1:g.241665795G>A	ClinGen:CA10581782	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1176_1181del (p.Ala393_Val394del)	2271	FH	Uncertain significance	rs1659806431	RCV001309006;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665798	241665803	GACAGCA	G	241665797	-
NM_000143.4(FH):c.1177G>C (p.Ala393Pro)	2271	FH	Uncertain significance	-1	RCV001370286;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665802	241665802	C	G	241665802	-
NM_000143.4(FH):c.1165_1174del (p.Gly389fs)	2271	FH	Pathogenic	rs1573879313	RCV000810743;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665805	241665814	ACATGGTTCCC	A	1:g.241665805_241665814del	-
NM_000143.4(FH):c.1173T>C (p.His391=)	2271	FH	Likely benign	rs199638673	RCV000930706;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665806	241665806	A	G	1:g.241665806A>G	-
NM_000143.4(FH):c.1172A>C (p.His391Pro)	2271	FH	Uncertain significance	rs1659806824	RCV001202185;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665807	241665807	T	G	1:g.241665807T>G	-
NM_000143.4(FH):c.1172A>G (p.His391Arg)	2271	FH	Uncertain significance	-1	RCV001929114;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665807	241665807	T	C	241665807	-
NM_000143.4(FH):c.1170C>G (p.Asn390Lys)	2271	FH	Uncertain significance	rs1659806898	RCV001338026;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665809	241665809	G	C	241665809	-
NM_000143.4(FH):c.1169A>G (p.Asn390Ser)	2271	FH	Likely pathogenic	rs1178007598	RCV001072142;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665810	241665810	T	C	1:g.241665810T>C	-
NM_000143.4(FH):c.1167G>A (p.Gly389=)	2271	FH	Likely benign	-1	RCV001412580;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665812	241665812	C	T	241665812	-
NM_000143.4(FH):c.1163T>C (p.Met388Thr)	2271	FH	Uncertain significance	rs876660830	RCV000219659\|RCV000695731\|RCV001762501;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241665816	241665816	A	G	1:g.241665816A>G	ClinGen:CA10577684	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1163T>G (p.Met388Arg)	2271	FH	Uncertain significance	-1	RCV001904130;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665816	241665816	A	C	241665816	-
NM_000143.4(FH):c.1162A>G (p.Met388Val)	2271	FH	Uncertain significance	rs1573879331	RCV001010056\|RCV001241972;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665817	241665817	T	C	1:g.241665817T>C	-
NM_000143.4(FH):c.1158_1160del (p.Gln386_Val387delinsHis)	2271	FH	Likely pathogenic	rs1659807516	RCV001197942;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665819	241665821	GACT	G	1:g.241665819_241665821del	-
NM_000143.4(FH):c.1158A>C (p.Gln386His)	2271	FH	Likely pathogenic	-1	RCV001993719;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665821	241665821	T	G	241665821	-
NM_000143.4(FH):c.1157A>G (p.Gln386Arg)	2271	FH	Pathogenic/Likely pathogenic	rs750447792	RCV000469317\|RCV000562894\|RCV001551727;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241665822	241665822	T	C	NC_000001.10:g.241665822T>C	ClinGen:CA16610070	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1156C>G (p.Gln386Glu)	2271	FH	Uncertain significance	-1	RCV002044674;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665823	241665823	G	C	241665823	-
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.1152A>C (p.Ala384=)	2271	FH	Likely benign	-1	RCV001456130;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665827	241665827	T	G	241665827	-
NM_000143.4(FH):c.1151C>T (p.Ala384Val)	2271	FH	Uncertain significance	rs904463039	RCV000799354;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665828	241665828	G	A	1:g.241665828G>A	-
NM_000143.4(FH):c.1149T>G (p.Val383=)	2271	FH	Likely benign	-1	RCV001433031;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665830	241665830	A	C	241665830	-
NM_000143.4(FH):c.1147G>C (p.Val383Leu)	2271	FH	Uncertain significance	-1	RCV001899374;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665832	241665832	C	G	241665832	-
NM_000143.4(FH):c.1145T>C (p.Met382Thr)	2271	FH	Likely pathogenic	-1	RCV001961450;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665834	241665834	A	G	241665834	-
NM_000143.4(FH):c.1144A>G (p.Met382Val)	2271	FH	Conflicting interpretations of pathogenicity	rs886039365	RCV000254948\|RCV000492991\|RCV000689467;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665835	241665835	T	C	1:g.241665835T>C	ClinGen:CA10588290	C0342770 606812 Fumarase deficiency;
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.1138A>G (p.Met380Val)	2271	FH	Uncertain significance	rs587778362	RCV000121093\|RCV000554866\|RCV000567053;	N	MedGen:CN169374\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241665841	241665841	T	C	1:g.241665841T>C	ClinGen:CA159746	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1138del (p.Ala379_Met380insTer)	2271	FH	Pathogenic	rs781466938	RCV000693361\|RCV001784319;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241665841	241665841	AT	A	1:g.241665841_241665841del	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1136C>A (p.Ala379Glu)	2271	FH	Uncertain significance	-1	RCV002008542;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665843	241665843	G	T	241665843	-
NM_000143.4(FH):c.1130G>A (p.Cys377Tyr)	2271	FH	Uncertain significance	rs1553340880	RCV000635286;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665849	241665849	C	T	1:g.241665849C>T	ClinGen:CA345437584	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1128G>T (p.Gln376His)	2271	FH	Uncertain significance	rs1467002768	RCV001017415\|RCV001860864;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665851	241665851	C	A	1:g.241665851C>A	-
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.1124C>T (p.Thr375Ile)	2271	FH	Uncertain significance	rs1659809804	RCV001320008\|RCV001780246;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241665855	241665855	G	A	241665855	-
NM_000143.4(FH):c.1123A>G (p.Thr375Ala)	2271	FH	Uncertain significance	rs1573879366	RCV000796890;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665856	241665856	T	C	1:g.241665856T>C	-
NM_000143.4(FH):c.1117_1119del (p.Asn373del)	2271	FH	Uncertain significance	rs1553340884	RCV000529968;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665860	241665862	GGTT	G	NC_000001.10:g.241665860_241665862del	ClinGen:CA658656999	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1119C>T (p.Asn373=)	2271	FH	Likely benign	rs542014575	RCV000635323;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665860	241665860	G	A	1:g.241665860G>A	ClinGen:CA1478538	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1119C>A (p.Asn373Lys)	2271	FH	Uncertain significance	rs542014575	RCV001225125;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665860	241665860	G	T	1:g.241665860G>T	-
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.1118A>T (p.Asn373Ile)	2271	FH	Uncertain significance	rs1060499643	RCV000701529;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665861	241665861	T	A	NC_000001.10:g.241665861T>A	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1112del (p.Lys371fs)	2271	FH	Pathogenic	rs1060500904	RCV000477222\|RCV001782934;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241665867	241665867	CT	C	NC_000001.10:g.241665868del	ClinGen:CA16610045	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1109G>A (p.Gly370Asp)	2271	FH	Uncertain significance	rs1553340894	RCV000635291;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665870	241665870	C	T	1:g.241665870C>T	ClinGen:CA345437719	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1109-1G>C	2271	FH	Likely pathogenic	rs1298313966	RCV001209726;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665871	241665871	C	G	1:g.241665871C>G	-
NM_000143.4(FH):c.1109-3A>G	2271	FH	Uncertain significance	rs1659810726	RCV001204288;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665873	241665873	T	C	1:g.241665873T>C	-
NM_000143.4(FH):c.1109-4G>A	2271	FH	Likely benign	-1	RCV001395664;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665874	241665874	C	T	241665874	-
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.1109-15G>T	2271	FH	Likely benign	-1	RCV002142230;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665885	241665885	C	A	241665885	-
NM_000143.4(FH):c.1109-15G>A	2271	FH	Likely benign	-1	RCV002094852;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665885	241665885	C	T	241665885	-
NM_000143.4(FH):c.1109-19A>G	2271	FH	Likely benign	-1	RCV002122502;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665889	241665889	T	C	241665889	-
NM_000143.4(FH):c.1109-20C>T	2271	FH	Likely benign	-1	RCV002139165;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241665890	241665890	G	A	241665890	-
NM_000143.4(FH):c.1108+18A>G	2271	FH	Likely benign	-1	RCV002203004;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667324	241667324	T	C	241667324	-
NM_000143.4(FH):c.1108+10T>C	2271	FH	Likely benign	rs201513242	RCV000884114\|RCV001406420;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667332	241667332	A	G	1:g.241667332A>G	-
NM_000143.4(FH):c.1108+10T>A	2271	FH	Likely benign	-1	RCV002193654;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667332	241667332	A	T	241667332	-
NM_000143.4(FH):c.1108+7A>G	2271	FH	Likely benign	-1	RCV001397552;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667335	241667335	T	C	241667335	-
NM_000143.4(FH):c.1108+1G>T	2271	FH	Pathogenic/Likely pathogenic	rs1057517734	RCV000414171\|RCV000556340\|RCV001017339;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241667341	241667341	C	A	1:g.241667341C>A	ClinGen:CA16042358	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1108+1G>A	2271	FH	Pathogenic	rs1057517734	RCV001215802;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667341	241667341	C	T	1:g.241667341C>T	-
NM_000143.4(FH):c.1108G>C (p.Gly370Arg)	2271	FH	Uncertain significance	rs1659848371	RCV001340676;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667342	241667342	C	G	241667342	-
NM_000143.4(FH):c.1097G>A (p.Ser366Asn)	2271	FH	Pathogenic/Likely pathogenic	rs863224004	RCV000200592\|RCV000234564\|RCV001017278;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241667353	241667353	C	T	1:g.241667353C>T	ClinGen:CA325181	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1094G>A (p.Ser365Asn)	2271	FH	Likely pathogenic	rs1131691238	RCV000493020\|RCV001065908;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667356	241667356	C	T	NC_000001.10:g.241667356C>T	ClinGen:CA345437940	C0027672 Hereditary cancer-predisposing syndrome;
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.1092A>G (p.Gly364=)	2271	FH	Likely benign	rs1361977903	RCV000924866\|RCV001399306;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667358	241667358	T	C	1:g.241667358T>C	-
NM_000143.4(FH):c.1088C>G (p.Pro363Arg)	2271	FH	Uncertain significance	rs1483975363	RCV000798094;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667362	241667362	G	C	1:g.241667362G>C	-
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.1086A>G (p.Glu362=)	2271	FH	Likely benign	rs1553341008	RCV000635330;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667364	241667364	T	C	1:g.241667364T>C	ClinGen:CA424075743	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1084G>C (p.Glu362Gln)	2271	FH	Pathogenic	rs121913119	RCV000017618\|RCV001781271;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667366	241667366	C	G	1:g.241667366C>G	ClinGen:CA257453,OMIM:136850.0002	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1084G>A (p.Glu362Lys)	2271	FH	Likely pathogenic	rs121913119	RCV001046230;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667366	241667366	C	T	1:g.241667366C>T	-
NM_000143.4(FH):c.1083T>G (p.Asn361Lys)	2271	FH	Uncertain significance	rs1659849280	RCV001337332;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667367	241667367	A	C	241667367	-
NM_000143.4(FH):c.1082del (p.Asn361fs)	2271	FH	Pathogenic	rs1553341012	RCV000635303\|RCV001784210;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667368	241667368	AT	A	1:g.241667368_241667368del	ClinGen:CA658795652	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1077T>A (p.Pro359=)	2271	FH	Benign/Likely benign	rs750535216	RCV000541494\|RCV000562083\|RCV001312139;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241667373	241667373	A	T	1:g.241667373A>T	ClinGen:CA1478552	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1072T>C (p.Leu358=)	2271	FH	Likely benign	rs918902822	RCV000460240;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667378	241667378	A	G	NC_000001.10:g.241667378A>G	ClinGen:CA16610037	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1071C>G (p.Ile357Met)	2271	FH	Uncertain significance	rs1391140770	RCV001295885;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667379	241667379	G	C	241667379	-
NM_000143.4(FH):c.1071C>A (p.Ile357=)	2271	FH	Likely benign	-1	RCV002124019;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667379	241667379	G	T	241667379	-
NM_000143.4(FH):c.1071C>T (p.Ile357=)	2271	FH	Likely benign	-1	RCV002178265;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667379	241667379	G	A	241667379	-
NM_000143.4(FH):c.1070T>C (p.Ile357Thr)	2271	FH	Uncertain significance	rs1388251431	RCV001017201\|RCV001273816;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667380	241667380	A	G	1:g.241667380A>G	-
NM_000143.4(FH):c.1069A>G (p.Ile357Val)	2271	FH	Uncertain significance	rs1027877625	RCV001280070;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667381	241667381	T	C	1:g.241667381T>C	-
NM_000143.4(FH):c.1068_1069delinsAC (p.Ile357Leu)	2271	FH	Uncertain significance	-1	RCV001893114;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667381	241667382	TC	GT	241667381	-
NM_000143.4(FH):c.1066T>C (p.Leu356=)	2271	FH	Likely benign	rs1157405003	RCV000635326;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667384	241667384	A	G	1:g.241667384A>G	ClinGen:CA424075751	C0342770 606812 Fumarase deficiency;
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.1056T>C (p.Gly352=)	2271	FH	Likely benign	rs758440879	RCV000867804;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667394	241667394	A	G	1:g.241667394A>G	-
NM_000143.4(FH):c.1055G>A (p.Gly352Asp)	2271	FH	Uncertain significance	rs1659850534	RCV001317402;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667395	241667395	C	T	241667395	-
NM_000143.4(FH):c.1052C>A (p.Ser351Ter)	2271	FH	Pathogenic	rs1060500896	RCV000459166\|RCV001782931;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667398	241667398	G	T	NC_000001.10:g.241667398G>T	ClinGen:CA16610049	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1052C>G (p.Ser351Ter)	2271	FH	Pathogenic	rs1060500896	RCV000494465\|RCV000694333\|RCV001782982;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667398	241667398	G	C	NC_000001.10:g.241667398G>C	ClinGen:CA345438126	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1051T>G (p.Ser351Ala)	2271	FH	Uncertain significance	rs766918221	RCV000809220;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667399	241667399	A	C	1:g.241667399A>C	-
NM_000143.4(FH):c.1051T>A (p.Ser351Thr)	2271	FH	Uncertain significance	rs766918221	RCV001051749;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667399	241667399	A	T	1:g.241667399A>T	-
NM_000143.4(FH):c.1049G>A (p.Arg350Gln)	2271	FH	Uncertain significance	rs749316923	RCV000567804\|RCV000635318\|RCV000994324;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667401	241667401	C	T	1:g.241667401C>T	ClinGen:CA1478555	C0342770 606812 Fumarase deficiency;
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.1046C>G (p.Pro349Arg)	2271	FH	Uncertain significance	rs1553341017	RCV000572030\|RCV001208085;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667404	241667404	G	C	1:g.241667404G>C	ClinGen:CA345438145	C0027672 Hereditary cancer-predisposing syndrome;
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.1041T>C (p.Ser347=)	2271	FH	Likely benign	-1	RCV001462638;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667409	241667409	A	G	241667409	-
NM_000143.4(FH):c.1040C>T (p.Ser347Phe)	2271	FH	Uncertain significance	rs1573880377	RCV000807889;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667410	241667410	G	A	1:g.241667410G>A	-
NM_000143.4(FH):c.1037G>A (p.Gly346Asp)	2271	FH	Likely pathogenic	-1	RCV001379328\|RCV001780293;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667413	241667413	C	T	241667413	-
NM_000143.4(FH):c.1036G>A (p.Gly346Ser)	2271	FH	Uncertain significance	rs1553341024	RCV000635301;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667414	241667414	C	T	1:g.241667414C>T	ClinGen:CA345438176	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1035G>A (p.Leu345=)	2271	FH	Uncertain significance	rs1558397757	RCV000696338;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667415	241667415	C	T	NC_000001.10:g.241667415C>T	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1030T>G (p.Phe344Val)	2271	FH	Uncertain significance	-1	RCV001973354;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667420	241667420	A	C	241667420	-
NM_000143.4(FH):c.1028del (p.Arg343fs)	2271	FH	Pathogenic	rs1553341026	RCV000635295\|RCV001784208;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667422	241667422	TC	T	1:g.241667422_241667422del	ClinGen:CA658795653	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.1028G>A (p.Arg343Gln)	2271	FH	Uncertain significance	rs756990249	RCV001017058\|RCV001214537;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667422	241667422	C	T	1:g.241667422C>T	-
NM_000143.4(FH):c.1028G>C (p.Arg343Pro)	2271	FH	Uncertain significance	-1	RCV001374022;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667422	241667422	C	G	241667422	-
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.1025T>C (p.Ile342Thr)	2271	FH	Uncertain significance	rs201383596	RCV000569364\|RCV001050789;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667425	241667425	A	G	1:g.241667425A>G	ClinGen:CA1478559	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1016_1024del (p.Ala339_Ile342delinsVal)	2271	FH	Uncertain significance	-1	RCV001872160;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667426	241667434	ATATCATTTG	A	241667425	-
NM_000143.4(FH):c.1023T>G (p.Asp341Glu)	2271	FH	Likely pathogenic	rs863223973	RCV000493972\|RCV000818182;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667427	241667427	A	C	NC_000001.10:g.241667427A>C	ClinGen:CA319914	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1023T>C (p.Asp341=)	2271	FH	Likely benign	rs863223973	RCV000568101\|RCV001491649;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667427	241667427	A	G	1:g.241667427A>G	ClinGen:CA424075790	C0027672 Hereditary cancer-predisposing syndrome;
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.1021G>A (p.Asp341Asn)	2271	FH	Likely pathogenic	rs11545655	RCV000472953;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667429	241667429	C	T	NC_000001.10:g.241667429C>T	ClinGen:CA16610053	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.1016C>A (p.Ala339Glu)	2271	FH	Uncertain significance	rs1659852423	RCV001217645;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667434	241667434	G	T	1:g.241667434G>T	-
NM_000143.4(FH):c.1016C>T (p.Ala339Val)	2271	FH	Uncertain significance	-1	RCV001892815;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667434	241667434	G	A	241667434	-
NM_000143.4(FH):c.1013T>C (p.Ile338Thr)	2271	FH	Uncertain significance	rs201975537	RCV000121092\|RCV000575122\|RCV001061733\|RCV001558721;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667437	241667437	A	G	1:g.241667437A>G	ClinGen:CA159743	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1003C>T (p.Leu335=)	2271	FH	Likely benign	rs1203364199	RCV000566616\|RCV001426931;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667447	241667447	G	A	1:g.241667447G>A	ClinGen:CA424075801	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.1003C>G (p.Leu335Val)	2271	FH	Uncertain significance	rs1203364199	RCV001042907;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667447	241667447	G	C	1:g.241667447G>C	-
NM_000143.4(FH):c.1002T>C (p.Ser334=)	2271	FH	Likely benign	-1	RCV001398180;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667448	241667448	A	G	241667448	-
NM_000143.4(FH):c.1000dup (p.Ser334fs)	2271	FH	Pathogenic	rs1659853029	RCV001247757;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667449	241667450	C	CT	1:g.241667449_241667450insT	-
NM_000143.4(FH):c.1000A>C (p.Ser334Arg)	2271	FH	Likely pathogenic	rs587782216	RCV000130899\|RCV000525776;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667450	241667450	T	G	1:g.241667450T>G	ClinGen:CA167342	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.999C>A (p.Cys333Ter)	2271	FH	Pathogenic	rs1553341031	RCV000635289;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667451	241667451	G	T	1:g.241667451G>T	ClinGen:CA345438252	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.999C>T (p.Cys333=)	2271	FH	Likely benign	-1	RCV001472102;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667451	241667451	G	A	241667451	-
NM_000143.4(FH):c.998G>A (p.Cys333Tyr)	2271	FH	Uncertain significance	rs1553341032	RCV000635316\|RCV001784211;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667452	241667452	C	T	1:g.241667452C>T	ClinGen:CA345438255	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.994G>A (p.Ala332Thr)	2271	FH	Uncertain significance	rs1157768121	RCV000635309\|RCV001019941;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241667456	241667456	C	T	1:g.241667456C>T	ClinGen:CA345438264	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.993T>C (p.Thr331=)	2271	FH	Likely benign	rs757921798	RCV001019920\|RCV001455597;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667457	241667457	A	G	1:g.241667457A>G	-
NM_000143.4(FH):c.991dup (p.Thr331fs)	2271	FH	Pathogenic	rs1553341034	RCV000635294;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667458	241667459	G	GT	1:g.241667458_241667459insT	ClinGen:CA658795654	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.991A>G (p.Thr331Ala)	2271	FH	Uncertain significance	-1	RCV001871334;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667459	241667459	T	C	241667459	-
NM_000143.4(FH):c.990T>G (p.Thr330=)	2271	FH	Likely benign	-1	RCV002211710;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667460	241667460	A	C	241667460	-
NM_000143.4(FH):c.989C>G (p.Thr330Ser)	2271	FH	Uncertain significance	rs200028270	RCV000553642;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667461	241667461	G	C	NC_000001.10:g.241667461G>C	ClinGen:CA40327911	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.989C>T (p.Thr330Ile)	2271	FH	Uncertain significance	-1	RCV001962792;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667461	241667461	G	A	241667461	-
NM_000143.4(FH):c.988A>C (p.Thr330Pro)	2271	FH	Conflicting interpretations of pathogenicity	rs776313200	RCV000697134\|RCV001019860;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241667462	241667462	T	G	NC_000001.10:g.241667462T>G	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.988A>G (p.Thr330Ala)	2271	FH	Uncertain significance	rs776313200	RCV001051009;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667462	241667462	T	C	1:g.241667462T>C	-
NM_000143.4(FH):c.987C>T (p.Asn329=)	2271	FH	Likely benign	rs1049719	RCV000930955\|RCV001483847;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667463	241667463	G	A	1:g.241667463G>A	-
NM_000143.4(FH):c.986A>G (p.Asn329Ser)	2271	FH	Uncertain significance	rs768483509	RCV000457338\|RCV000574405\|RCV001591073;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241667464	241667464	T	C	NC_000001.10:g.241667464T>C	ClinGen:CA1478562	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.983T>G (p.Met328Arg)	2271	FH	Uncertain significance	-1	RCV001984179;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667467	241667467	A	C	241667467	-
NM_000143.4(FH):c.982A>G (p.Met328Val)	2271	FH	Uncertain significance	-1	RCV001889836;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667468	241667468	T	C	241667468	-
NM_000143.4(FH):c.981C>T (p.Ala327=)	2271	FH	Likely benign	rs1060504078	RCV000474338;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667469	241667469	G	A	NC_000001.10:g.241667469G>A	ClinGen:CA16610040	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.980C>T (p.Ala327Val)	2271	FH	Uncertain significance	rs1659854224	RCV001218052;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667470	241667470	G	A	1:g.241667470G>A	-
NM_000143.4(FH):c.979G>A (p.Ala327Thr)	2271	FH	Uncertain significance	rs1333344957	RCV001346594;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667471	241667471	C	T	241667471	-
NM_000143.4(FH):c.977G>A (p.Gly326Glu)	2271	FH	Uncertain significance	rs1553341037	RCV000635293;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667473	241667473	C	T	1:g.241667473C>T	ClinGen:CA345438297	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.976G>A (p.Gly326Arg)	2271	FH	Uncertain significance	rs1553341038	RCV000795583;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667474	241667474	C	T	1:g.241667474C>T	-
NM_000143.4(FH):c.974G>C (p.Ser325Thr)	2271	FH	Uncertain significance	rs1423324601	RCV000695514\|RCV001019701;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241667476	241667476	C	G	NC_000001.10:g.241667476C>G	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.974G>A (p.Ser325Asn)	2271	FH	Uncertain significance	-1	RCV001362875;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667476	241667476	C	T	241667476	-
NM_000143.4(FH):c.973A>T (p.Ser325Cys)	2271	FH	Uncertain significance	-1	RCV002016569;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667477	241667477	T	A	241667477	-
NM_000143.4(FH):c.967G>A (p.Glu323Lys)	2271	FH	Likely pathogenic	-1	RCV002024093;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667483	241667483	C	T	241667483	-
NM_000143.4(FH):c.961C>G (p.Leu321Val)	2271	FH	Uncertain significance	-1	RCV001937221;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667489	241667489	G	C	241667489	-
NM_000143.4(FH):c.958G>T (p.Ala320Ser)	2271	FH	Uncertain significance	rs766441385	RCV001246874;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667492	241667492	C	A	1:g.241667492C>A	-
NM_000143.4(FH):c.957C>T (p.Asp319=)	2271	FH	Likely benign	rs146751488	RCV000543460\|RCV000567373\|RCV001534097;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241667493	241667493	G	A	NC_000001.10:g.241667493G>A	ClinGen:CA1478567	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.956A>G (p.Asp319Gly)	2271	FH	Uncertain significance	rs1659855240	RCV001224821;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667494	241667494	T	C	1:g.241667494T>C	-
NM_000143.4(FH):c.953A>T (p.His318Leu)	2271	FH	Likely pathogenic	-1	RCV001379329\|RCV001780294;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667497	241667497	T	A	241667497	-
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.951T>C (p.Ala317=)	2271	FH	Likely benign	-1	RCV001425794;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667499	241667499	A	G	241667499	-
NM_000143.4(FH):c.950C>T (p.Ala317Val)	2271	FH	Pathogenic	-1	RCV001387329;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667500	241667500	G	A	241667500	-
NM_000143.4(FH):c.947C>A (p.Ala316Asp)	2271	FH	Likely pathogenic	rs863224002	RCV000199702\|RCV000494152\|RCV000697340;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667503	241667503	G	T	1:g.241667503G>T	ClinGen:CA324246	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.944T>C (p.Leu315Pro)	2271	FH	Uncertain significance	rs1573880531	RCV000824604;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667506	241667506	A	G	1:g.241667506A>G	-
NM_000143.4(FH):c.943C>G (p.Leu315Val)	2271	FH	Uncertain significance	rs1573880536	RCV001019358\|RCV001832346;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667507	241667507	G	C	1:g.241667507G>C	-
NM_000143.4(FH):c.943C>T (p.Leu315=)	2271	FH	Likely benign	-1	RCV001439241;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667507	241667507	G	A	241667507	-
NM_000143.4(FH):c.941C>G (p.Ala314Gly)	2271	FH	Uncertain significance	rs1659856002	RCV001349950;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667509	241667509	G	C	241667509	-
NM_000143.4(FH):c.937G>A (p.Glu313Lys)	2271	FH	Conflicting interpretations of pathogenicity	rs863224001	RCV000199631\|RCV000461129;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667513	241667513	C	T	NC_000001.10:g.241667513C>T	ClinGen:CA324175	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.936del (p.Phe312fs)	2271	FH	Pathogenic	-1	RCV001386340;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667514	241667514	CA	C	241667513	-
NM_000143.4(FH):c.935T>G (p.Phe312Cys)	2271	FH	Likely pathogenic	rs1553341046	RCV000635298\|RCV001784209;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667515	241667515	A	C	NC_000001.10:g.241667515A>C	ClinGen:CA345438376	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.935T>C (p.Phe312Ser)	2271	FH	Likely pathogenic	rs1553341046	RCV001050232\|RCV001558848;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667515	241667515	A	G	1:g.241667515A>G	-
NM_000143.4(FH):c.934T>C (p.Phe312Leu)	2271	FH	Likely pathogenic	rs863224000	RCV000197788\|RCV000533544\|RCV000493445;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241667516	241667516	A	G	1:g.241667516A>G	ClinGen:CA322251	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.934T>G (p.Phe312Val)	2271	FH	Likely pathogenic	-1	RCV002048976;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667516	241667516	A	C	241667516	-
NM_000143.4(FH):c.933del (p.Lys311fs)	2271	FH	Pathogenic	-1	RCV002037805;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667517	241667517	AT	A	241667516	-
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.926C>T (p.Pro309Leu)	2271	FH	Uncertain significance	rs756528378	RCV000230405\|RCV001589168;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667524	241667524	G	A	1:g.241667524G>A	ClinGen:CA1478570	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.925C>T (p.Pro309Ser)	2271	FH	Conflicting interpretations of pathogenicity	rs368849989	RCV000469749\|RCV000571863\|RCV001591074;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241667525	241667525	G	A	NC_000001.10:g.241667525G>A	ClinGen:CA1478571	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.924T>G (p.Ala308=)	2271	FH	Likely benign	-1	RCV002176780;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667526	241667526	A	C	241667526	-
NM_000143.4(FH):c.923C>G (p.Ala308Gly)	2271	FH	Pathogenic/Likely pathogenic	rs1057524385	RCV000430394\|RCV000555247\|RCV001019060;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241667527	241667527	G	C	1:g.241667527G>C	ClinGen:CA16603595	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.919del (p.Thr307fs)	2271	FH	Pathogenic	rs1553341049	RCV000635304;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667531	241667531	GT	G	1:g.241667531_241667531del	ClinGen:CA658795655	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.916G>A (p.Val306Ile)	2271	FH	Uncertain significance	rs1659857390	RCV001227126;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667534	241667534	C	T	1:g.241667534C>T	-
NM_000143.4(FH):c.915T>G (p.Phe305Leu)	2271	FH	Likely pathogenic	-1	RCV002023139;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667535	241667535	A	C	241667535	-
NM_000143.4(FH):c.914T>C (p.Phe305Ser)	2271	FH	Likely pathogenic	rs1439046582	RCV001018919\|RCV001206783;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667536	241667536	A	G	1:g.241667536A>G	-
NM_000143.4(FH):c.912T>G (p.Pro304=)	2271	FH	Likely benign	rs1573880603	RCV000892808\|RCV001018906\|RCV002065587;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667538	241667538	A	C	1:g.241667538A>C	-
NM_000143.4(FH):c.912T>C (p.Pro304=)	2271	FH	Likely benign	-1	RCV001494387;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667538	241667538	A	G	241667538	-
NM_000143.4(FH):c.911C>G (p.Pro304Arg)	2271	FH	Uncertain significance	rs200491078	RCV000525503\|RCV001545353;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667539	241667539	G	C	1:g.241667539G>C	ClinGen:CA1478574	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.910C>T (p.Pro304Ser)	2271	FH	Uncertain significance	rs1659857790	RCV001246638;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667540	241667540	G	A	1:g.241667540G>A	-
NM_000143.4(FH):c.909_910del (p.Leu303fs)	2271	FH	Pathogenic	-1	RCV001949393;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667540	241667541	GGC	G	241667539	-
NM_000143.4(FH):c.909G>C (p.Leu303Phe)	2271	FH	Uncertain significance	-1	RCV001925886;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667541	241667541	C	G	241667541	-
NM_000143.4(FH):c.908T>C (p.Leu303Ser)	2271	FH	Uncertain significance	rs201502246	RCV000034486\|RCV000471678\|RCV000568576;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241667542	241667542	A	G	1:g.241667542A>G	ClinGen:CA215563	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.907T>G (p.Leu303Val)	2271	FH	Uncertain significance	rs1057523697	RCV000445241\|RCV001861624;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667543	241667543	A	C	1:g.241667543A>C	ClinGen:CA16603666	CN169374 not specified;
NM_000143.4(FH):c.905G>A (p.Gly302Asp)	2271	FH	Uncertain significance	rs1162334354	RCV001229703\|RCV001553142;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241667545	241667545	C	T	1:g.241667545C>T	-
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.905-3_905-2insATTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCC	2271	FH	Uncertain significance	-1	RCV001978896;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667547	241667548	T	TAAAGAAAAGAAAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAA	241667547	-
NM_000143.4(FH):c.905-3T>C	2271	FH	Uncertain significance	rs1573880626	RCV000800023\|RCV001018725;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241667548	241667548	A	G	1:g.241667548A>G	-
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.905-5T>C	2271	FH	Likely benign	-1	RCV002191225;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667550	241667550	A	G	241667550	-
NM_000143.4(FH):c.905-6C>T	2271	FH	Likely benign	-1	RCV002193232;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667551	241667551	G	A	241667551	-
NM_000143.4(FH):c.905-10T>G	2271	FH	Likely benign	rs1060504080	RCV000469084\|RCV001481784;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241667555	241667555	A	C	NC_000001.10:g.241667555A>C	ClinGen:CA16610103	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.904+13G>A	2271	FH	Likely benign	rs572806212	RCV001810667\|RCV002070102;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669290	241669290	C	T	241669290	-
NM_000143.4(FH):c.904+12C>A	2271	FH	Likely benign	-1	RCV002123146;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669291	241669291	G	T	241669291	-
NM_000143.4(FH):c.904+12C>T	2271	FH	Likely benign	-1	RCV002107240;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669291	241669291	G	A	241669291	-
NM_000143.4(FH):c.904+11A>C	2271	FH	Likely benign	-1	RCV002164611;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669292	241669292	T	G	241669292	-
NC_000001.11:g.(?_241505993)_(241506178_?)del	2271	FH	Pathogenic	-1	RCV000707820;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669293	241669478	na	na		-	C0342770 606812 Fumarase deficiency;
NC_000001.11:g.(?_241505993)_(241506183_?)del	2271	FH	Pathogenic	-1	RCV001032921;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669293	241669483	na	na	-1	-
NC_000001.10:g.(?_241669293)_(241683022_?)dup	2271	FH	Uncertain significance	-1	RCV002011466;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669293	241683022	na	na	-1	-
NM_000143.4(FH):c.904+9T>A	2271	FH	Likely benign	-1	RCV002123332;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669294	241669294	A	T	241669294	-
NM_000143.4(FH):c.904+9T>G	2271	FH	Likely benign	-1	RCV002210189;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669294	241669294	A	C	241669294	-
NM_000143.4(FH):c.904+8A>G	2271	FH	Likely benign	-1	RCV002188343;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669295	241669295	T	C	241669295	-
NM_000143.4(FH):c.904+1G>A	2271	FH	Likely pathogenic	rs1553341148	RCV000810820;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669302	241669302	C	T	1:g.241669302C>T	-
NM_000143.4(FH):c.904+1G>T	2271	FH	Likely pathogenic	-1	RCV001993876;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669302	241669302	C	A	241669302	-
NM_000143.4(FH):c.904G>A (p.Gly302Ser)	2271	FH	Uncertain significance	rs200412958	RCV001299094;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669303	241669303	C	T	241669303	-
NM_000143.4(FH):c.903A>C (p.Thr301=)	2271	FH	Uncertain significance	rs1659918712	RCV001205513;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669304	241669304	T	G	1:g.241669304T>G	-
NM_000143.4(FH):c.900T>C (p.Leu300=)	2271	FH	Likely benign	-1	RCV001437565;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669307	241669307	A	G	241669307	-
NM_000143.4(FH):c.900T>A (p.Leu300=)	2271	FH	Likely benign	-1	RCV001438750;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669307	241669307	A	T	241669307	-
NM_000143.4(FH):c.897A>G (p.Ala299=)	2271	FH	Likely benign	rs1553341151	RCV000576008\|RCV002060516;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669310	241669310	T	C	1:g.241669310T>C	ClinGen:CA424075879	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.896C>T (p.Ala299Val)	2271	FH	Uncertain significance	-1	RCV001999008;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669311	241669311	G	A	241669311	-
NM_000143.4(FH):c.894T>C (p.Ala298=)	2271	FH	Likely benign	rs372099505	RCV000555439\|RCV001550598;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241669313	241669313	A	G	1:g.241669313A>G	ClinGen:CA1478596	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.893C>G (p.Ala298Gly)	2271	FH	Uncertain significance	rs1573881563	RCV000798134;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669314	241669314	G	C	1:g.241669314G>C	-
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.889G>A (p.Val297Met)	2271	FH	Uncertain significance	-1	RCV001997606;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669318	241669318	C	T	241669318	-
NM_000143.4(FH):c.887_888del (p.Lys296fs)	2271	FH	Pathogenic	-1	RCV001883977;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669319	241669320	CTT	C	241669318	-
NM_000143.4(FH):c.887A>G (p.Lys296Arg)	2271	FH	Uncertain significance	rs933479705	RCV001303809;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669320	241669320	T	C	241669320	-
NM_000143.4(FH):c.885A>G (p.Ala295=)	2271	FH	Likely benign	-1	RCV001476200;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669322	241669322	T	C	241669322	-
NM_000143.4(FH):c.883G>A (p.Ala295Thr)	2271	FH	Conflicting interpretations of pathogenicity	rs145843819	RCV000034485\|RCV000121091\|RCV000166620\|RCV000687788;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669324	241669324	C	T	1:g.241669324C>T	ClinGen:CA159740	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.880G>A (p.Ala294Thr)	2271	FH	Uncertain significance	rs1659920259	RCV001067825;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669327	241669327	C	T	1:g.241669327C>T	-
NM_000143.4(FH):c.877G>A (p.Val293Ile)	2271	FH	Uncertain significance	rs749029092	RCV000818201;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669330	241669330	C	T	1:g.241669330C>T	-
NM_000143.4(FH):c.876G>T (p.Lys292Asn)	2271	FH	Uncertain significance	-1	RCV002041898;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669331	241669331	C	A	241669331	-
NM_000143.4(FH):c.874A>C (p.Lys292Gln)	2271	FH	Uncertain significance	rs771087739	RCV001018267\|RCV001053290;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669333	241669333	T	G	1:g.241669333T>G	-
NM_000143.4(FH):c.872A>G (p.Glu291Gly)	2271	FH	Uncertain significance	-1	RCV001889254;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669335	241669335	T	C	241669335	-
NM_000143.4(FH):c.855T>C (p.Thr285=)	2271	FH	Likely benign	rs1573881600	RCV000994325\|RCV002067603;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669352	241669352	A	G	1:g.241669352A>G	-
NM_000143.4(FH):c.853A>G (p.Thr285Ala)	2271	FH	Uncertain significance	rs200791185	RCV000791903;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669354	241669354	T	C	1:g.241669354T>C	-
NM_000143.4(FH):c.853A>T (p.Thr285Ser)	2271	FH	Uncertain significance	-1	RCV002032909;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669354	241669354	T	A	241669354	-
NM_000143.4(FH):c.852T>C (p.Asn284=)	2271	FH	Likely benign	-1	RCV002080846;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669355	241669355	A	G	241669355	-
NM_000143.4(FH):c.848T>C (p.Leu283Ser)	2271	FH	Uncertain significance	rs1659921346	RCV001037686;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669359	241669359	A	G	1:g.241669359A>G	-
NM_000143.4(FH):c.845G>T (p.Gly282Val)	2271	FH	Uncertain significance	rs935002190	RCV001233921;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669362	241669362	C	A	1:g.241669362C>A	-
NM_000143.4(FH):c.844G>C (p.Gly282Arg)	2271	FH	Likely pathogenic	rs1573881629	RCV000808375;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669363	241669363	C	G	1:g.241669363C>G	-
NM_000143.4(FH):c.842C>T (p.Thr281Ile)	2271	FH	Conflicting interpretations of pathogenicity	rs1573881633	RCV001017764\|RCV001349882;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669365	241669365	G	A	1:g.241669365G>A	-
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.838G>A (p.Gly280Ser)	2271	FH	Uncertain significance	rs1659921742	RCV001063804;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669369	241669369	C	T	1:g.241669369C>T	-
NM_000143.4(FH):c.831T>C (p.Thr277=)	2271	FH	Likely benign	rs113349873	RCV001017545\|RCV001454802;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669376	241669376	A	G	1:g.241669376A>G	-
NM_000143.4(FH):c.830C>G (p.Thr277Ser)	2271	FH	Uncertain significance	rs1553341160	RCV000540721\|RCV001755818;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241669377	241669377	G	C	1:g.241669377G>C	ClinGen:CA345438935	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.824_827dup (p.Thr277fs)	2271	FH	Pathogenic	rs1659922131	RCV001231819;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669379	241669380	G	GCCTC	1:g.241669379_241669380insCCTC	-
NM_000143.4(FH):c.827G>A (p.Gly276Asp)	2271	FH	Likely pathogenic	-1	RCV001378591;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669380	241669380	C	T	241669380	-
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.823G>A (p.Gly275Arg)	2271	FH	Uncertain significance	rs1060499639	RCV000460545;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669384	241669384	C	T	NC_000001.10:g.241669384C>T	ClinGen:CA16610104	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.823G>T (p.Gly275Ter)	2271	FH	Pathogenic	-1	RCV001387419;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669384	241669384	C	A	241669384	-
NM_000143.4(FH):c.822dup (p.Gly275fs)	2271	FH	Pathogenic	-1	RCV001897691;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669384	241669385	C	CA	241669384	-
NM_000143.4(FH):c.817G>A (p.Ala273Thr)	2271	FH	Uncertain significance	rs772190176	RCV000200636\|RCV000467363\|RCV000572182;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241669390	241669390	C	T	NC_000001.10:g.241669390C>T	ClinGen:CA325227	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.816C>T (p.Leu272=)	2271	FH	Likely benign	rs775368701	RCV000871957\|RCV001027240\|RCV001698468;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241669391	241669391	G	A	1:g.241669391G>A	ClinGen:CA1478601	CN169374 not specified;
NM_000143.4(FH):c.814C>A (p.Leu272Ile)	2271	FH	Uncertain significance	rs779019570	RCV000477240\|RCV000574968\|RCV001770311;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241669393	241669393	G	T	NC_000001.10:g.241669393G>T	ClinGen:CA16610105	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.809A>G (p.Tyr270Cys)	2271	FH	Uncertain significance	rs202060616	RCV000525718\|RCV000573963\|RCV001551931;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241669398	241669398	T	C	NC_000001.10:g.241669398T>C	ClinGen:CA1478602	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.807C>T (p.Ile269=)	2271	FH	Likely benign	-1	RCV001459257;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669400	241669400	G	A	241669400	-
NM_000143.4(FH):c.807C>A (p.Ile269=)	2271	FH	Likely benign	-1	RCV002151438;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669400	241669400	G	T	241669400	-
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)	2271	FH	Pathogenic/Likely pathogenic	rs786202220	RCV000164936\|RCV000471022\|RCV001559555;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241669401	241669421	GATTCTTGGCATGGCAGCTTTT	G	1:g.241669401_241669421del	ClinGen:CA192112	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.805del (p.Ile269fs)	2271	FH	Pathogenic	rs1131691234	RCV000493233\|RCV001038811;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669402	241669402	AT	A	NC_000001.10:g.241669403del	ClinGen:CA645369176	C0027672 Hereditary cancer-predisposing syndrome;
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.803G>T (p.Arg268Ile)	2271	FH	Uncertain significance	-1	RCV001360504;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669404	241669404	C	A	241669404	-
NM_000143.4(FH):c.802A>G (p.Arg268Gly)	2271	FH	Uncertain significance	-1	RCV001924776;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669405	241669405	T	C	241669405	-
NM_000143.4(FH):c.800C>T (p.Pro267Leu)	2271	FH	Uncertain significance	-1	RCV001866401;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669407	241669407	G	A	241669407	-
NM_000143.4(FH):c.797dup (p.Met266fs)	2271	FH	Pathogenic	rs863223981	RCV000195789\|RCV001853178;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669409	241669410	C	CA	1:g.241669409_241669410insA	ClinGen:CA320163	CN517202 not provided;
NM_000143.4(FH):c.797T>C (p.Met266Thr)	2271	FH	Uncertain significance	-1	RCV002011623;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669410	241669410	A	G	241669410	-
NM_000143.4(FH):c.795C>T (p.Ala265=)	2271	FH	Likely benign	-1	RCV001411424;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669412	241669412	G	A	241669412	-
NM_000143.4(FH):c.793G>A (p.Ala265Thr)	2271	FH	Pathogenic	rs387906545	RCV000017617;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669414	241669414	C	T	1:g.241669414C>T	ClinGen:CA257450,OMIM:136850.0001	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.792T>C (p.Ala264=)	2271	FH	Likely benign	rs368234566	RCV001026966\|RCV002069560;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669415	241669415	A	G	1:g.241669415A>G	-
NM_000143.4(FH):c.785T>G (p.Ile262Arg)	2271	FH	Uncertain significance	rs786203177	RCV000166376\|RCV001577505\|RCV001850342;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669422	241669422	A	C	1:g.241669422A>C	ClinGen:CA195695	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.784A>G (p.Ile262Val)	2271	FH	Uncertain significance	rs199829765	RCV001061420;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669423	241669423	T	C	1:g.241669423T>C	-
NM_000143.4(FH):c.784A>C (p.Ile262Leu)	2271	FH	Uncertain significance	rs199829765	RCV001216316;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669423	241669423	T	G	1:g.241669423T>G	-
NM_000143.4(FH):c.783A>G (p.Arg261=)	2271	FH	Likely benign	rs1573881721	RCV001026861\|RCV002067704;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669424	241669424	T	C	1:g.241669424T>C	-
NM_000143.4(FH):c.782G>T (p.Arg261Ile)	2271	FH	Conflicting interpretations of pathogenicity	rs61736558	RCV000570420\|RCV000820902;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669425	241669425	C	A	1:g.241669425C>A	ClinGen:CA40328246	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.780_781del (p.Arg261fs)	2271	FH	Pathogenic	rs1659924638	RCV001048632;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669426	241669427	CTT	C	1:g.241669426_241669427del	-
NM_000143.4(FH):c.779C>G (p.Thr260Arg)	2271	FH	Uncertain significance	-1	RCV001967517;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669428	241669428	G	C	241669428	-
NM_000143.4(FH):c.777G>A (p.Met259Ile)	2271	FH	Uncertain significance	-1	RCV001911958;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669430	241669430	C	T	241669430	-
NM_000143.4(FH):c.776T>A (p.Met259Lys)	2271	FH	Uncertain significance	rs1407485828	RCV000796601;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669431	241669431	A	T	1:g.241669431A>T	-
NM_000143.4(FH):c.776T>C (p.Met259Thr)	2271	FH	Uncertain significance	-1	RCV002001375;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669431	241669431	A	G	241669431	-
NM_000143.4(FH):c.775A>C (p.Met259Leu)	2271	FH	Uncertain significance	-1	RCV001993920;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669432	241669432	T	G	241669432	-
NM_000143.4(FH):c.774A>T (p.Ala258=)	2271	FH	Likely benign	-1	RCV001443859;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669433	241669433	T	A	241669433	-
NM_000143.4(FH):c.774A>G (p.Ala258=)	2271	FH	Likely benign	-1	RCV002141961;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669433	241669433	T	C	241669433	-
NM_000143.4(FH):c.771T>C (p.Tyr257=)	2271	FH	Likely benign	rs199909758	RCV000942156\|RCV001026754\|RCV001788380;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241669436	241669436	A	G	1:g.241669436A>G	-
NM_000143.4(FH):c.765A>G (p.Val255=)	2271	FH	Likely benign	rs200965107	RCV000892884\|RCV001026674;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241669442	241669442	T	C	1:g.241669442T>C	-
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.760C>T (p.Gln254Ter)	2271	FH	Pathogenic	rs398123167	RCV000078151\|RCV000547417;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669447	241669447	G	A	1:g.241669447G>A	ClinGen:CA220387	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.759A>G (p.Gln253=)	2271	FH	Conflicting interpretations of pathogenicity	rs147518314	RCV000797170\|RCV001026602;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241669448	241669448	T	C	1:g.241669448T>C	-
NM_000143.4(FH):c.754G>A (p.Val252Ile)	2271	FH	Uncertain significance	-1	RCV001946020;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669453	241669453	C	T	241669453	-
NM_000143.4(FH):c.749G>T (p.Gly250Val)	2271	FH	Uncertain significance	-1	RCV001359128;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669458	241669458	C	A	241669458	-
NM_000143.4(FH):c.748G>C (p.Gly250Arg)	2271	FH	Uncertain significance	-1	RCV001875581;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669459	241669459	C	G	241669459	-
NM_000143.4(FH):c.744T>C (p.Phe248=)	2271	FH	Likely benign	-1	RCV002173008;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669463	241669463	A	G	241669463	-
NM_000143.4(FH):c.741A>G (p.Glu247=)	2271	FH	Likely benign	-1	RCV001492509;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669466	241669466	T	C	241669466	-
NM_000143.4(FH):c.739G>T (p.Glu247Ter)	2271	FH	Pathogenic	rs1131691243	RCV000493486\|RCV000696053\|RCV001782986;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241669468	241669468	C	A	NC_000001.10:g.241669468C>A	ClinGen:CA345439127	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.739-2A>C	2271	FH	Likely pathogenic	rs1553341174	RCV000537500;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669470	241669470	T	G	1:g.241669470T>G	ClinGen:CA345439135	C0342770 606812 Fumarase deficiency;
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.739-17TTTTC[2]	2271	FH	Conflicting interpretations of pathogenicity	rs745617145	RCV000863299\|RCV001556917;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241669471	241669475	TGAAAA	T	1:g.241669471_241669475del	-
NM_000143.4(FH):c.739-9T>C	2271	FH	Likely benign	-1	RCV001467014;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669477	241669477	A	G	241669477	-
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.739-10T>G	2271	FH	Likely benign	rs201971572	RCV000874711\|RCV001414809;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669478	241669478	A	C	1:g.241669478A>C	-
NM_000143.4(FH):c.739-12T>G	2271	FH	Likely benign	-1	RCV002207339;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669480	241669480	A	C	241669480	-
NM_000143.4(FH):c.739-15T>G	2271	FH	Likely benign	rs746109501	RCV000877260;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241669483	241669483	A	C	1:g.241669483A>C	-
NM_000143.4(FH):c.738+19T>C	2271	FH	Likely benign	-1	RCV002166677;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671884	241671884	A	G	241671884	-
NM_000143.4(FH):c.738+17A>G	2271	FH	Likely benign	-1	RCV002189499;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671886	241671886	T	C	241671886	-
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	-
NC_000001.11:g.(?_241508593)_(241513723_?)del	2271	FH	Likely pathogenic	-1	RCV001033144;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671893	241677023	na	na	-1	-
NM_000143.4(FH):c.738+9G>T	2271	FH	Likely benign	rs1443246780	RCV000865006;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671894	241671894	C	A	1:g.241671894C>A	-
NM_000143.4(FH):c.738+9G>A	2271	FH	Likely benign	-1	RCV002199046;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671894	241671894	C	T	241671894	-
NM_000143.4(FH):c.738+5A>G	2271	FH	Uncertain significance	-1	RCV001977232;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671898	241671898	T	C	241671898	-
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.738+3A>G	2271	FH	Uncertain significance	rs1659988181	RCV001206536;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671900	241671900	T	C	1:g.241671900T>C	-
NM_000143.4(FH):c.738+2T>C	2271	FH	Pathogenic/Likely pathogenic	rs1060500901	RCV000458630\|RCV001577061;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241671901	241671901	A	G	NC_000001.10:g.241671901A>G	ClinGen:CA16610056	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.738+1G>A	2271	FH	Pathogenic	rs1659988368	RCV001234500;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671902	241671902	C	T	1:g.241671902C>T	-
NM_000143.4(FH):c.738G>C (p.Gln246His)	2271	FH	Uncertain significance	-1	RCV001922518;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671903	241671903	C	G	241671903	-
NM_000143.4(FH):c.737del (p.Gln246fs)	2271	FH	Pathogenic	rs727503928	RCV000153236\|RCV001058354;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671904	241671904	CT	C	1:g.241671904_241671904del	ClinGen:CA233991	CN517202 not provided;
NM_000143.4(FH):c.735_736delinsTT (p.Gln246Ter)	2271	FH	Pathogenic	-1	RCV001382328;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671905	241671906	GC	AA	241671905	-
NM_000143.4(FH):c.734_735del (p.Gly245fs)	2271	FH	Pathogenic	-1	RCV001390553;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671906	241671907	GCC	G	241671905	-
NM_000143.4(FH):c.735G>C (p.Gly245=)	2271	FH	Likely benign	-1	RCV001469096;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671906	241671906	C	G	241671906	-
NM_000143.4(FH):c.733G>A (p.Gly245Arg)	2271	FH	Uncertain significance	-1	RCV001561482\|RCV001865980;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671908	241671908	C	T	241671908	-
NM_000143.4(FH):c.732T>C (p.Leu244=)	2271	FH	Likely benign	-1	RCV002201811;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671909	241671909	A	G	241671909	-
NM_000143.4(FH):c.731T>C (p.Leu244Pro)	2271	FH	Uncertain significance	rs1060499636	RCV000635312;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671910	241671910	A	G	1:g.241671910A>G	ClinGen:CA345439154	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.729T>C (p.Thr243=)	2271	FH	Likely benign	rs1573883071	RCV000936027\|RCV001422513;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671912	241671912	A	G	1:g.241671912A>G	-
NM_000143.4(FH):c.723_724del (p.Leu242fs)	2271	FH	Pathogenic	-1	RCV002011972;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671917	241671918	AGT	A	241671916	-
NM_000143.4(FH):c.723A>G (p.Pro241=)	2271	FH	Likely benign	-1	RCV001453207;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671918	241671918	T	C	241671918	-
NM_000143.4(FH):c.722C>T (p.Pro241Leu)	2271	FH	Uncertain significance	rs1553341319	RCV000563559\|RCV001853769;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671919	241671919	G	A	1:g.241671919G>A	ClinGen:CA345439171	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.721C>G (p.Pro241Ala)	2271	FH	Uncertain significance	rs1349419396	RCV001206490;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671920	241671920	G	C	1:g.241671920G>C	-
NM_000143.4(FH):c.720T>C (p.Val240=)	2271	FH	Likely benign	-1	RCV001449406;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671921	241671921	A	G	241671921	-
NM_000143.4(FH):c.718G>C (p.Val240Leu)	2271	FH	Uncertain significance	-1	RCV002001916;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671923	241671923	C	G	241671923	-
NM_000143.4(FH):c.714T>C (p.Asp238=)	2271	FH	Likely benign	-1	RCV001482128;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671927	241671927	A	G	241671927	-
NM_000143.4(FH):c.712G>A (p.Asp238Asn)	2271	FH	Uncertain significance	rs1659989676	RCV001215525;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671929	241671929	C	T	1:g.241671929C>T	-
NM_000143.4(FH):c.711G>A (p.Gln237=)	2271	FH	Uncertain significance	-1	RCV001893684;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671930	241671930	C	T	241671930	-
NM_000143.4(FH):c.707C>T (p.Thr236Ile)	2271	FH	Uncertain significance	-1	RCV001978743;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671934	241671934	G	A	241671934	-
NM_000143.4(FH):c.706A>G (p.Thr236Ala)	2271	FH	Conflicting interpretations of pathogenicity	rs1064793126	RCV000482578\|RCV001320607;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671935	241671935	T	C	1:g.241671935T>C	ClinGen:CA16617116	CN517202 not provided;
NM_000143.4(FH):c.705T>G (p.His235Gln)	2271	FH	Uncertain significance	rs919993170	RCV000821824;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671936	241671936	A	C	1:g.241671936A>C	-
NM_000143.4(FH):c.704A>G (p.His235Arg)	2271	FH	Uncertain significance	rs1659990191	RCV001047158\|RCV001784597;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241671937	241671937	T	C	1:g.241671937T>C	-
NM_000143.4(FH):c.702T>G (p.Thr234=)	2271	FH	Benign/Likely benign	rs201083387	RCV000494047\|RCV000827769\|RCV001083333;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671939	241671939	A	C	NC_000001.10:g.241671939A>C	ClinGen:CA1478629	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.701C>T (p.Thr234Ile)	2271	FH	Uncertain significance	rs878853695	RCV000229462;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671940	241671940	G	A	1:g.241671940G>A	ClinGen:CA10581783	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.700A>G (p.Thr234Ala)	2271	FH	Pathogenic/Likely pathogenic	rs372505976	RCV000163828\|RCV000195694\|RCV000548793;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671941	241671941	T	C	1:g.241671941T>C	ClinGen:CA189288	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.700A>C (p.Thr234Pro)	2271	FH	Uncertain significance	rs372505976	RCV000537762;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671941	241671941	T	G	1:g.241671941T>G	ClinGen:CA345439217	C0342770 606812 Fumarase deficiency;
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.698G>C (p.Arg233Pro)	2271	FH	Likely pathogenic	-1	RCV001980524;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671943	241671943	C	G	241671943	-
NM_000143.4(FH):c.697C>T (p.Arg233Cys)	2271	FH	Pathogenic	rs587781682	RCV000129845\|RCV000153237\|RCV000549060;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671944	241671944	G	A	1:g.241671944G>A	ClinGen:CA165194	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.697C>G (p.Arg233Gly)	2271	FH	Conflicting interpretations of pathogenicity	rs587781682	RCV001025872\|RCV001222477;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671944	241671944	G	C	1:g.241671944G>C	-
NM_000143.3(FH):c.695G>A (p.Gly232Glu)	2271	FH	Uncertain significance	rs727503929	RCV000153238\|RCV001850093;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671946	241671946	C	T	1:g.241671946C>T	ClinGen:CA233992	CN169374 not specified;
NM_000143.4(FH):c.692T>C (p.Ile231Thr)	2271	FH	Uncertain significance	rs1335587342	RCV000562550\|RCV000804121\|RCV001770522;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241671949	241671949	A	G	1:g.241671949A>G	ClinGen:CA345439228	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.691A>G (p.Ile231Val)	2271	FH	Uncertain significance	rs1659991322	RCV001208301;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671950	241671950	T	C	1:g.241671950T>C	-
NM_000143.4(FH):c.691A>C (p.Ile231Leu)	2271	FH	Uncertain significance	-1	RCV001583548\|RCV001832810;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671950	241671950	T	G	241671950	-
NM_000143.4(FH):c.690G>C (p.Lys230Asn)	2271	FH	Likely pathogenic	-1	RCV001980898;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671951	241671951	C	G	241671951	-
NM_000143.4(FH):c.689A>G (p.Lys230Arg)	2271	FH	Pathogenic	rs752232718	RCV000494410\|RCV000534273\|RCV001782983;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241671952	241671952	T	C	NC_000001.10:g.241671952T>C	ClinGen:CA1478630	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.688A>G (p.Lys230Glu)	2271	FH	Uncertain significance	rs863223967	RCV000560807;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671953	241671953	T	C	1:g.241671953T>C	ClinGen:CA323255	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.688A>C (p.Lys230Gln)	2271	FH	Pathogenic	-1	RCV001385784;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671953	241671953	T	G	241671953	-
NM_000143.4(FH):c.687C>G (p.Ile229Met)	2271	FH	Uncertain significance	rs755587163	RCV000690860;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671954	241671954	G	C	NC_000001.10:g.241671954G>C	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.685A>G (p.Ile229Val)	2271	FH	Uncertain significance	rs764065194	RCV000820286;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671956	241671956	T	C	1:g.241671956T>C	-
NM_000143.4(FH):c.684C>T (p.Ile228=)	2271	FH	Likely benign	rs1384151924	RCV000546136;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671957	241671957	G	A	1:g.241671957G>A	ClinGen:CA424076050	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.683T>C (p.Ile228Thr)	2271	FH	Uncertain significance	rs753773918	RCV000820373;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671958	241671958	A	G	1:g.241671958A>G	-
NM_000143.4(FH):c.679C>T (p.Gln227Ter)	2271	FH	Pathogenic	rs11545658	RCV000468298\|RCV001782932;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241671962	241671962	G	A	NC_000001.10:g.241671962G>A	ClinGen:CA16610075	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.678A>G (p.Ala226=)	2271	FH	Likely benign	rs757078832	RCV000531108\|RCV001025644;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241671963	241671963	T	C	1:g.241671963T>C	ClinGen:CA1478634	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.677C>A (p.Ala226Glu)	2271	FH	Uncertain significance	rs778786425	RCV000820296\|RCV001766736;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241671964	241671964	G	T	1:g.241671964G>T	-
NM_000143.4(FH):c.674_675del (p.Phe225fs)	2271	FH	Pathogenic	-1	RCV001877375;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671966	241671967	CAA	C	241671965	-
NM_000143.4(FH):c.675T>A (p.Phe225Leu)	2271	FH	Uncertain significance	-1	RCV002026523;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671966	241671966	A	T	241671966	-
NM_000143.4(FH):c.674T>C (p.Phe225Ser)	2271	FH	Uncertain significance	rs149651434	RCV000557332;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671967	241671967	A	G	1:g.241671967A>G	ClinGen:CA40329413	C0342770 606812 Fumarase deficiency;
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.670G>A (p.Glu224Lys)	2271	FH	Uncertain significance	rs1060500905	RCV000466177;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671971	241671971	C	T	NC_000001.10:g.241671971C>T	ClinGen:CA16610057	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.668_669del (p.Lys223fs)	2271	FH	Pathogenic	rs886039364	RCV000255892\|RCV001226143;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671972	241671973	CTT	C	1:g.241671972_241671973del	ClinGen:CA10588291	CN517202 not provided;
NM_000143.4(FH):c.669A>G (p.Lys223=)	2271	FH	Likely benign	rs1573883183	RCV000842673\|RCV001025541\|RCV001087161;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671972	241671972	T	C	1:g.241671972T>C	-
NM_000143.4(FH):c.668A>C (p.Lys223Thr)	2271	FH	Uncertain significance	rs1064795294	RCV000480081\|RCV001025534\|RCV001069489;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671973	241671973	T	G	1:g.241671973T>G	ClinGen:CA16617117	CN169374 not specified;
NM_000143.4(FH):c.668A>T (p.Lys223Ile)	2271	FH	Uncertain significance	rs1064795294	RCV000817439;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671973	241671973	T	A	1:g.241671973T>A	-
NM_000143.4(FH):c.668A>G (p.Lys223Arg)	2271	FH	Uncertain significance	-1	RCV001977146;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671973	241671973	T	C	241671973	-
NM_000143.4(FH):c.667A>T (p.Lys223Ter)	2271	FH	Pathogenic	-1	RCV001881914;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671974	241671974	T	A	241671974	-
NM_000143.4(FH):c.664T>A (p.Ser222Thr)	2271	FH	Uncertain significance	rs1448268784	RCV000699536\|RCV000761058\|RCV001816725\|RCV001843543;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:C2698310\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624, Orphanet:449	1	241671977	241671977	A	T	NC_000001.10:g.241671977A>T	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.664T>C (p.Ser222Pro)	2271	FH	Likely pathogenic	-1	RCV001775239;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671977	241671977	A	G	241671977	-
NM_000143.4(FH):c.662A>T (p.Lys221Ile)	2271	FH	Uncertain significance	-1	RCV001928576;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671979	241671979	T	A	241671979	-
NM_000143.4(FH):c.658_659delinsTT (p.Ala220Leu)	2271	FH	Uncertain significance	rs1060500893	RCV000471408\|RCV001025432;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241671982	241671983	GC	AA	NC_000001.10:g.241671982_241671983delinsAA	ClinGen:CA16610058	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.658G>A (p.Ala220Thr)	2271	FH	Uncertain significance	-1	RCV001989713;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671983	241671983	C	T	241671983	-
NM_000143.4(FH):c.657T>G (p.Asp219Glu)	2271	FH	Uncertain significance	rs995196012	RCV000795766;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671984	241671984	A	C	1:g.241671984A>C	-
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.653T>C (p.Leu218Pro)	2271	FH	Pathogenic	rs1553341345	RCV000546318;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671988	241671988	A	G	1:g.241671988A>G	ClinGen:CA345439305	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.648T>A (p.Asp216Glu)	2271	FH	Uncertain significance	rs199536615	RCV000564564\|RCV000705539\|RCV001821687\|RCV001529212;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN169374\|MedGen:CN517202	1	241671993	241671993	A	T	1:g.241671993A>T	ClinGen:CA1478642	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.648T>G (p.Asp216Glu)	2271	FH	Uncertain significance	rs199536615	RCV001352503;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671993	241671993	A	C	241671993	-
NM_000143.4(FH):c.647A>T (p.Asp216Val)	2271	FH	Uncertain significance	rs1553341348	RCV000531582;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671994	241671994	T	A	1:g.241671994T>A	ClinGen:CA345439320	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.644A>T (p.His215Leu)	2271	FH	Uncertain significance	rs770141324	RCV001060564;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241671997	241671997	T	A	1:g.241671997T>A	-
NM_000143.4(FH):c.639G>A (p.Lys213=)	2271	FH	Likely benign	rs377222193	RCV000842699\|RCV001088964;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672002	241672002	C	T	1:g.241672002C>T	ClinGen:CA1478644	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.638A>G (p.Lys213Arg)	2271	FH	Uncertain significance	rs1659995341	RCV001325513;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672003	241672003	T	C	241672003	-
NM_000143.4(FH):c.636G>A (p.Gln212=)	2271	FH	Likely benign	-1	RCV001477008;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672005	241672005	C	T	241672005	-
NM_000143.4(FH):c.634C>T (p.Gln212Ter)	2271	FH	Pathogenic	rs1553341353	RCV000539618\|RCV001783040;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241672007	241672007	G	A	1:g.241672007G>A	ClinGen:CA345439351	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.634C>G (p.Gln212Glu)	2271	FH	Uncertain significance	-1	RCV002050598;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672007	241672007	G	C	241672007	-
NM_000143.4(FH):c.633A>G (p.Leu211=)	2271	FH	Likely benign	-1	RCV002111090;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672008	241672008	T	C	241672008	-
NM_000143.4(FH):c.628G>A (p.Gly210Arg)	2271	FH	Uncertain significance	rs949267641	RCV000476352;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672013	241672013	C	T	NC_000001.10:g.241672013C>T	ClinGen:CA16610109	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.621G>A (p.Leu207=)	2271	FH	Likely benign	-1	RCV001398084;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672020	241672020	C	T	241672020	-
NM_000143.4(FH):c.620T>C (p.Leu207Pro)	2271	FH	Uncertain significance	rs1060500894	RCV000458414;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672021	241672021	A	G	NC_000001.10:g.241672021A>G	ClinGen:CA16610111	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.619C>T (p.Leu207=)	2271	FH	Likely benign	-1	RCV001438553;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672022	241672022	G	A	241672022	-
NM_000143.4(FH):c.618A>C (p.Val206=)	2271	FH	Likely benign	-1	RCV002135866;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672023	241672023	T	G	241672023	-
NM_000143.4(FH):c.616G>A (p.Val206Ile)	2271	FH	Uncertain significance	rs763183520	RCV000460134\|RCV001024965\|RCV001591075;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241672025	241672025	C	T	NC_000001.10:g.241672025C>T	ClinGen:CA1478645	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.616G>T (p.Val206Leu)	2271	FH	Uncertain significance	rs763183520	RCV000802630;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672025	241672025	C	A	1:g.241672025C>A	-
NM_000143.4(FH):c.615A>G (p.Glu205=)	2271	FH	Likely benign	rs1474356587	RCV000932650;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672026	241672026	T	C	1:g.241672026T>C	-
NM_000143.4(FH):c.612T>A (p.His204Gln)	2271	FH	Uncertain significance	rs1424868653	RCV001216496;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672029	241672029	A	T	1:g.241672029A>T	-
NM_000143.4(FH):c.612T>G (p.His204Gln)	2271	FH	Uncertain significance	rs1424868653	RCV001248552;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672029	241672029	A	C	1:g.241672029A>C	-
NM_000143.4(FH):c.611A>G (p.His204Arg)	2271	FH	Uncertain significance	rs1060500898	RCV000461966;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672030	241672030	T	C	NC_000001.10:g.241672030T>C	ClinGen:CA16610080	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.611A>T (p.His204Leu)	2271	FH	Uncertain significance	rs1060500898	RCV000685373;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672030	241672030	T	A	NC_000001.10:g.241672030T>A	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.610C>A (p.His204Asn)	2271	FH	Uncertain significance	rs863223996	RCV000196812\|RCV001045533;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672031	241672031	G	T	1:g.241672031G>T	ClinGen:CA321226	CN169374 not specified;
NM_000143.4(FH):c.609T>G (p.Val203=)	2271	FH	Likely benign	-1	RCV002144743;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672032	241672032	A	C	241672032	-
NM_000143.4(FH):c.608T>G (p.Val203Gly)	2271	FH	Uncertain significance	-1	RCV001987330;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672033	241672033	A	C	241672033	-
NM_000143.4(FH):c.603A>G (p.Ile201Met)	2271	FH	Uncertain significance	-1	RCV001943070;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672038	241672038	T	C	241672038	-
NM_000143.4(FH):c.602T>C (p.Ile201Thr)	2271	FH	Uncertain significance	rs1476664795	RCV001054456;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672039	241672039	A	G	1:g.241672039A>G	-
NM_000143.4(FH):c.601A>G (p.Ile201Val)	2271	FH	Uncertain significance	rs1659997422	RCV001326843;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672040	241672040	T	C	241672040	-
NM_000143.4(FH):c.600A>G (p.Ala200=)	2271	FH	Likely benign	rs1490011492	RCV000908568\|RCV001423350;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672041	241672041	T	C	1:g.241672041T>C	-
NM_000143.4(FH):c.600A>C (p.Ala200=)	2271	FH	Likely benign	rs1490011492	RCV001024800\|RCV001428504;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672041	241672041	T	G	1:g.241672041T>G	-
NM_000143.4(FH):c.591TGC[2] (p.Ala200del)	2271	FH	Conflicting interpretations of pathogenicity	rs786202907	RCV000165970\|RCV000691558;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672042	241672044	TGCA	T	1:g.241672042_241672044del	ClinGen:CA194673	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.599C>T (p.Ala200Val)	2271	FH	Uncertain significance	rs1659997677	RCV001317256;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672042	241672042	G	A	241672042	-
NM_000143.4(FH):c.593C>G (p.Ala198Gly)	2271	FH	Uncertain significance	rs1414507017	RCV000575434\|RCV001764648\|RCV001858147;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672048	241672048	G	C	1:g.241672048G>C	ClinGen:CA345439430	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.589A>G (p.Ile197Val)	2271	FH	Uncertain significance	rs201764931	RCV001061024;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672052	241672052	T	C	1:g.241672052T>C	-
NM_000143.4(FH):c.589A>C (p.Ile197Leu)	2271	FH	Uncertain significance	rs201764931	RCV001309017;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672052	241672052	T	G	241672052	-
NM_000143.4(FH):c.589A>T (p.Ile197Phe)	2271	FH	Likely pathogenic	-1	RCV001969105;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672052	241672052	T	A	241672052	-
NM_000143.4(FH):c.564_587delinsG (p.Asn188fs)	2271	FH	Pathogenic	rs1573883310	RCV000823629;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672054	241672077	TGCATTGCTGTGGGAAAAGTATCA	C	1:g.241672055_241672077del	-
NM_000143.4(FH):c.584T>C (p.Met195Thr)	2271	FH	Pathogenic/Likely pathogenic	rs863223965	RCV000505795\|RCV000693506;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672057	241672057	A	G	1:g.241672057A>G	ClinGen:CA324917	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.583A>G (p.Met195Val)	2271	FH	Pathogenic	rs1553341364	RCV000532944;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672058	241672058	T	C	1:g.241672058T>C	ClinGen:CA345439454	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.581C>A (p.Ala194Glu)	2271	FH	Uncertain significance	rs1558399442	RCV000693108;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672060	241672060	G	T	NC_000001.10:g.241672060G>T	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.580G>A (p.Ala194Thr)	2271	FH	Uncertain significance	rs587782215	RCV000130897\|RCV000477037\|RCV000765096\|RCV001731390\|RCV001547779;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24; Human Phenotype Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708	1	241672061	241672061	C	T	1:g.241672061C>T	ClinGen:CA167337	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.580G>T (p.Ala194Ser)	2271	FH	Uncertain significance	-1	RCV001371419;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672061	241672061	C	A	241672061	-
NM_000143.4(FH):c.578C>T (p.Thr193Ile)	2271	FH	Uncertain significance	rs1573883332	RCV000801100;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672063	241672063	G	A	1:g.241672063G>A	-
NM_000143.4(FH):c.577A>G (p.Thr193Ala)	2271	FH	Uncertain significance	-1	RCV001914817;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672064	241672064	T	C	241672064	-
NM_000143.4(FH):c.576C>A (p.Pro192=)	2271	FH	Likely benign	-1	RCV001444329;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672065	241672065	G	T	241672065	-
NM_000143.4(FH):c.576C>G (p.Pro192=)	2271	FH	Likely benign	-1	RCV001462647;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672065	241672065	G	C	241672065	-
NM_000143.4(FH):c.575C>T (p.Pro192Leu)	2271	FH	Likely pathogenic	rs1573883342	RCV001024493\|RCV001068978;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672066	241672066	G	A	1:g.241672066G>A	-
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.574C>G (p.Pro192Ala)	2271	FH	Likely pathogenic	-1	RCV002026015;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672067	241672067	G	C	241672067	-
NM_000143.4(FH):c.568_569del (p.Thr190fs)	2271	FH	Pathogenic	rs1553341367	RCV000635313\|RCV001024403;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241672072	241672073	AGT	A	1:g.241672072_241672073del	ClinGen:CA658795647	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.569C>T (p.Thr190Ile)	2271	FH	Uncertain significance	-1	RCV001927894;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672072	241672072	G	A	241672072	-
NM_000143.4(FH):c.567T>C (p.Asp189=)	2271	FH	Likely benign	-1	RCV002210452;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672074	241672074	A	G	241672074	-
NM_000143.4(FH):c.563A>T (p.Asn188Ile)	2271	FH	Likely pathogenic	-1	RCV001376949;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672078	241672078	T	A	241672078	-
NM_000143.4(FH):c.556-3_562del	2271	FH	Pathogenic	rs1659999374	RCV001062734;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672079	241672088	TTTGAGCTCTG	T	1:g.241672079_241672088del	-
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.560C>A (p.Ser187Ter)	2271	FH	Pathogenic	rs398123166	RCV000473262\|RCV001782935;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241672081	241672081	G	T	NC_000001.10:g.241672081G>T	ClinGen:CA16610114	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.558C>T (p.Ser186=)	2271	FH	Likely benign	-1	RCV001456943;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672083	241672083	G	A	241672083	-
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.557del (p.Ser186fs)	2271	FH	Pathogenic	rs1659999781	RCV001211854;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672084	241672084	GC	G	1:g.241672084_241672084del	-
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.556-2A>G	2271	FH	Likely pathogenic	rs750273092	RCV000706535;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672087	241672087	T	C	1:g.241672087T>C	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.556-4A>G	2271	FH	Uncertain significance	rs370229813	RCV000475091\|RCV001024280\|RCV001569283;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241672089	241672089	T	C	NC_000001.10:g.241672089T>C	ClinGen:CA1478652	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.556-5A>G	2271	FH	Uncertain significance	rs1060500892	RCV000461933;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672090	241672090	T	C	NC_000001.10:g.241672090T>C	ClinGen:CA16610043	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.556-6C>T	2271	FH	Likely benign	-1	RCV001487030;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672091	241672091	G	A	241672091	-
NM_000143.4(FH):c.556-7C>T	2271	FH	Likely benign	rs780483420	RCV000635324;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672092	241672092	G	A	1:g.241672092G>A	ClinGen:CA1478653	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.556-12A>C	2271	FH	Likely benign	-1	RCV002103979;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241672097	241672097	T	G	241672097	-
NM_000143.4(FH):c.555+20T>C	2271	FH	Likely benign	-1	RCV002133330;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675247	241675247	A	G	241675247	-
NM_000143.4(FH):c.555+17T>C	2271	FH	Likely benign	-1	RCV002162153;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675250	241675250	A	G	241675250	-
NM_000143.4(FH):c.555+11G>A	2271	FH	Likely benign	-1	RCV002110517;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675256	241675256	C	T	241675256	-
NM_000143.4(FH):c.555+9G>T	2271	FH	Likely benign	-1	RCV002076473;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675258	241675258	C	A	241675258	-
NM_000143.4(FH):c.532_555+7del	2271	FH	Pathogenic	-1	RCV001972746;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675260	241675290	ATACTGACCTGGCTTTTATTAACATGATCGTT	A	241675259	-
NM_000143.4(FH):c.555+4A>G	2271	FH	Uncertain significance	rs776240700	RCV000692469\|RCV001024262\|RCV001771957;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241675263	241675263	T	C	NC_000001.10:g.241675263T>C	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.555+3del	2271	FH	Uncertain significance	rs1553341583	RCV000524909;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675264	241675264	TG	T	1:g.241675264_241675264del	ClinGen:CA658657001	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.555+3C>A	2271	FH	Uncertain significance	rs1660094654	RCV001060328;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675264	241675264	G	T	1:g.241675264G>T	-
NM_000143.4(FH):c.555G>T (p.Gln185His)	2271	FH	Uncertain significance	rs1660094798	RCV001206935;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675267	241675267	C	A	1:g.241675267C>A	-
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.554A>C (p.Gln185Pro)	2271	FH	Uncertain significance	rs779707997	RCV000696109;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675268	241675268	T	G	NC_000001.10:g.241675268T>G	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.552C>T (p.Ser184=)	2271	FH	Likely benign	rs377660762	RCV000540139\|RCV001024233\|RCV001613345;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241675270	241675270	G	A	1:g.241675270G>A	ClinGen:CA1478669	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.552C>G (p.Ser184Arg)	2271	FH	Uncertain significance	rs377660762	RCV000705532;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675270	241675270	G	C	1:g.241675270G>C	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.551G>C (p.Ser184Thr)	2271	FH	Uncertain significance	rs750316531	RCV001052045;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675271	241675271	C	G	1:g.241675271C>G	-
NM_000143.4(FH):c.547A>G (p.Lys183Glu)	2271	FH	Uncertain significance	-1	RCV001967821;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675275	241675275	T	C	241675275	-
NM_000143.4(FH):c.545A>G (p.Asn182Ser)	2271	FH	Uncertain significance	rs1558400468	RCV000691760;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675277	241675277	T	C	1:g.241675277T>C	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.543T>C (p.Val181=)	2271	FH	Likely benign	-1	RCV001392920;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675279	241675279	A	G	241675279	-
NM_000143.4(FH):c.540T>C (p.His180=)	2271	FH	Likely benign	rs766280573	RCV000525144\|RCV001024060\|RCV001567578;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241675282	241675282	A	G	1:g.241675282A>G	ClinGen:CA1478672	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.539A>G (p.His180Arg)	2271	FH	Conflicting interpretations of pathogenicity	rs863224015	RCV000493387\|RCV001052054\|RCV001781575;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241675283	241675283	T	C	1:g.241675283T>C	ClinGen:CA324566,UniProtKB:P07954#VAR_013499	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.539A>T (p.His180Leu)	2271	FH	Likely pathogenic	-1	RCV002040235;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675283	241675283	T	A	241675283	-
NM_000143.4(FH):c.536A>G (p.Asp179Gly)	2271	FH	Uncertain significance	-1	RCV002048307;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675286	241675286	T	C	241675286	-
NM_000143.4(FH):c.535G>A (p.Asp179Asn)	2271	FH	Uncertain significance	rs1553341588	RCV000551411\|RCV000572955;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241675287	241675287	C	T	1:g.241675287C>T	ClinGen:CA345439887	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.535G>T (p.Asp179Tyr)	2271	FH	Uncertain significance	rs1553341588	RCV001337795;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675287	241675287	C	A	241675287	-
NM_000143.4(FH):c.534C>T (p.Asn178=)	2271	FH	Likely benign	rs375878939	RCV000165460\|RCV001394413;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675288	241675288	G	A	1:g.241675288G>A	ClinGen:CA193456	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.534C>A (p.Asn178Lys)	2271	FH	Uncertain significance	-1	RCV001993461;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675288	241675288	G	T	241675288	-
NM_000143.4(FH):c.531C>G (p.Pro177=)	2271	FH	Likely benign	rs202056137	RCV000536941;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675291	241675291	G	C	1:g.241675291G>C	ClinGen:CA40331824	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.530C>G (p.Pro177Arg)	2271	FH	Likely pathogenic	-1	RCV002030388;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675292	241675292	G	C	241675292	-
NM_000143.4(FH):c.527A>G (p.His176Arg)	2271	FH	Conflicting interpretations of pathogenicity	rs1158759883	RCV000498190\|RCV001196074;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675295	241675295	T	C	1:g.241675295T>C	ClinGen:CA345439904	CN517202 not provided;
NM_000143.4(FH):c.525G>A (p.Val175=)	2271	FH	Likely benign	rs1553341592	RCV000558625;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675297	241675297	C	T	1:g.241675297C>T	ClinGen:CA424076269	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.522T>C (p.Pro174=)	2271	FH	Likely benign	-1	RCV002214656;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675300	241675300	A	G	241675300	-
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.521C>A (p.Pro174His)	2271	FH	Uncertain significance	rs199822819	RCV000701542;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675301	241675301	G	T	NC_000001.10:g.241675301G>T	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.517A>T (p.Ile173Leu)	2271	FH	Uncertain significance	rs1558400504	RCV000699131;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675305	241675305	T	A	NC_000001.10:g.241675305T>A	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.515A>G (p.Lys172Arg)	2271	FH	Uncertain significance	-1	RCV001993516;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675307	241675307	T	C	241675307	-
NM_000143.4(FH):c.514A>G (p.Lys172Glu)	2271	FH	Uncertain significance	rs201154463	RCV000548223;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675308	241675308	T	C	1:g.241675308T>C	ClinGen:CA40331857	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.513C>G (p.Ser171Arg)	2271	FH	Uncertain significance	-1	RCV001874817;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675309	241675309	G	C	241675309	-
NM_000143.4(FH):c.512G>A (p.Ser171Asn)	2271	FH	Uncertain significance	rs1157774951	RCV001218544\|RCV001780139;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241675310	241675310	C	T	1:g.241675310C>T	-
NM_000143.4(FH):c.509G>A (p.Gly170Asp)	2271	FH	Uncertain significance	rs1573885360	RCV000798651;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675313	241675313	C	T	1:g.241675313C>T	-
NM_000143.4(FH):c.504del (p.Glu168fs)	2271	FH	Pathogenic/Likely pathogenic	rs776190273	RCV000484908\|RCV001023474\|RCV001390188;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675318	241675318	GT	G	1:g.241675318_241675318del	ClinGen:CA1478674	CN517202 not provided;
NM_000143.4(FH):c.502G>C (p.Glu168Gln)	2271	FH	Uncertain significance	rs1573885382	RCV000797381;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675320	241675320	C	G	1:g.241675320C>G	-
NM_000143.4(FH):c.500G>T (p.Gly167Val)	2271	FH	Uncertain significance	rs1558400520	RCV000702720;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675322	241675322	C	A	NC_000001.10:g.241675322C>A	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.495AGG[1] (p.Gly167del)	2271	FH	Uncertain significance	rs1660097679	RCV001309932;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675322	241675324	ACCT	A	241675321	-
NM_000143.4(FH):c.498A>G (p.Gly166=)	2271	FH	Likely benign	-1	RCV001446813;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675324	241675324	T	C	241675324	-
NM_000143.4(FH):c.497G>A (p.Gly166Glu)	2271	FH	Uncertain significance	rs746612719	RCV000686478;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675325	241675325	C	T	NC_000001.10:g.241675325C>T	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.496G>A (p.Gly166Arg)	2271	FH	Uncertain significance	rs1660097824	RCV001232189;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675326	241675326	C	T	1:g.241675326C>T	-
NM_000143.4(FH):c.492G>C (p.Met164Ile)	2271	FH	Uncertain significance	rs1370195868	RCV001324223;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675330	241675330	C	G	241675330	-
NM_000143.4(FH):c.490A>G (p.Met164Val)	2271	FH	Uncertain significance	-1	RCV001992954;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675332	241675332	T	C	241675332	-
NM_000143.4(FH):c.484del (p.Ile162fs)	2271	FH	Pathogenic	rs1660098180	RCV001203816;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675338	241675338	AT	A	1:g.241675338_241675338del	-
NM_000143.4(FH):c.484A>G (p.Ile162Val)	2271	FH	Uncertain significance	-1	RCV001917348;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675338	241675338	T	C	241675338	-
NM_000143.4(FH):c.482C>T (p.Ala161Val)	2271	FH	Uncertain significance	-1	RCV001883712;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675340	241675340	G	A	241675340	-
NM_000143.4(FH):c.481G>A (p.Ala161Thr)	2271	FH	Uncertain significance	rs1573885421	RCV001023109\|RCV001209314;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675341	241675341	C	T	1:g.241675341C>T	-
NM_000143.4(FH):c.480A>G (p.Arg160=)	2271	FH	Likely benign	-1	RCV001460991;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675342	241675342	T	C	241675342	-
NM_000143.4(FH):c.478A>G (p.Arg160Gly)	2271	FH	Pathogenic/Likely pathogenic	rs878853694	RCV000226234\|RCV001023046\|RCV001782719;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241675344	241675344	T	C	1:g.241675344T>C	ClinGen:CA10581784	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.477T>C (p.Asn159=)	2271	FH	Likely benign	rs372913738	RCV001396266\|RCV001698020;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241675345	241675345	A	G	1:g.241675345A>G	ClinGen:CA1478676	CN169374 not specified;
NM_000143.4(FH):c.473G>A (p.Ser158Asn)	2271	FH	Conflicting interpretations of pathogenicity	rs1060500902	RCV000464397\|RCV000498842;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241675349	241675349	C	T	NC_000001.10:g.241675349C>T	ClinGen:CA16610060	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.473G>T (p.Ser158Ile)	2271	FH	Uncertain significance	rs1060500902	RCV001238795;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675349	241675349	C	A	1:g.241675349C>A	-
NM_000143.4(FH):c.470T>C (p.Ile157Thr)	2271	FH	Uncertain significance	-1	RCV002011701;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675352	241675352	A	G	241675352	-
NM_000143.4(FH):c.469A>G (p.Ile157Val)	2271	FH	Uncertain significance	rs778399986	RCV001206479;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675353	241675353	T	C	1:g.241675353T>C	-
NM_000143.4(FH):c.468C>A (p.Val156=)	2271	FH	Likely benign	rs202061330	RCV000214643\|RCV001446115;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675354	241675354	G	T	1:g.241675354G>T	ClinGen:CA10577686	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.462T>G (p.Asn154Lys)	2271	FH	Likely pathogenic	-1	RCV002033495;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675360	241675360	A	C	241675360	-
NM_000143.4(FH):c.462T>C (p.Asn154=)	2271	FH	Likely benign	-1	RCV002139897;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675360	241675360	A	G	241675360	-
NM_000143.4(FH):c.460A>C (p.Asn154His)	2271	FH	Uncertain significance	-1	RCV001957426;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675362	241675362	T	G	241675362	-
NM_000143.4(FH):c.459A>G (p.Val153=)	2271	FH	Likely benign	-1	RCV001446168;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675363	241675363	T	C	241675363	-
NM_000143.4(FH):c.456T>C (p.Asn152=)	2271	FH	Likely benign	rs876658403	RCV000217094\|RCV001447004;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675366	241675366	A	G	1:g.241675366A>G	ClinGen:CA10577687	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.452T>C (p.Met151Thr)	2271	FH	Uncertain significance	rs1660099266	RCV001230001;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675370	241675370	A	G	1:g.241675370A>G	-
NM_000143.4(FH):c.452T>A (p.Met151Lys)	2271	FH	Uncertain significance	rs1660099266	RCV001235413\|RCV001773530;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241675370	241675370	A	T	1:g.241675370A>T	-
NM_000143.4(FH):c.451A>T (p.Met151Leu)	2271	FH	Uncertain significance	rs749752047	RCV000802996;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675371	241675371	T	A	1:g.241675371T>A	-
NM_000143.4(FH):c.450T>A (p.Asn150Lys)	2271	FH	Uncertain significance	rs1131691242	RCV000493891\|RCV001225444;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675372	241675372	A	T	NC_000001.10:g.241675372A>T	ClinGen:CA345440080	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.448A>G (p.Asn150Asp)	2271	FH	Uncertain significance	rs1660099527	RCV001306792;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675374	241675374	T	C	241675374	-
NM_000143.4(FH):c.448A>C (p.Asn150His)	2271	FH	Uncertain significance	rs1660099527	RCV001343475;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675374	241675374	T	G	241675374	-
NM_000143.4(FH):c.444G>A (p.Gln148=)	2271	FH	Likely benign	rs928534157	RCV000544185;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675378	241675378	C	T	1:g.241675378C>T	ClinGen:CA40331923	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.442C>T (p.Gln148Ter)	2271	FH	Pathogenic	rs1558400571	RCV000701955\|RCV001784340;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241675380	241675380	G	A	NC_000001.10:g.241675380G>A	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.439A>G (p.Thr147Ala)	2271	FH	Pathogenic	rs863223983	RCV000635287;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675383	241675383	T	C	1:g.241675383T>C	ClinGen:CA322337	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.438A>T (p.Gly146=)	2271	FH	Uncertain significance	-1	RCV001365435;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675384	241675384	T	A	241675384	-
NM_000143.4(FH):c.437G>A (p.Gly146Glu)	2271	FH	Conflicting interpretations of pathogenicity	rs11545654	RCV000166128\|RCV000345017\|RCV000635317;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675385	241675385	C	T	1:g.241675385C>T	ClinGen:CA195071	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.435A>G (p.Ser145=)	2271	FH	Likely benign	-1	RCV001502300;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675387	241675387	T	C	241675387	-
NM_000143.4(FH):c.434C>T (p.Ser145Leu)	2271	FH	Uncertain significance	rs1573885482	RCV001309419;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675388	241675388	G	A	241675388	-
NM_000143.4(FH):c.431G>T (p.Gly144Val)	2271	FH	Conflicting interpretations of pathogenicity	rs1057521425	RCV000438718\|RCV001861526;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675391	241675391	C	A	1:g.241675391C>A	ClinGen:CA16603598	CN169374 not specified;
NM_000143.4(FH):c.431del (p.Gly144fs)	2271	FH	Pathogenic	rs1660100641	RCV001238085;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675391	241675391	TC	T	1:g.241675391_241675391del	-
NM_000143.4(FH):c.426G>A (p.Gln142=)	2271	FH	Likely benign	-1	RCV001393449;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675396	241675396	C	T	241675396	-
NM_000143.4(FH):c.424C>T (p.Gln142Ter)	2271	FH	Pathogenic	rs1355199594	RCV000798748;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675398	241675398	G	A	1:g.241675398G>A	-
NM_000143.4(FH):c.424C>G (p.Gln142Glu)	2271	FH	Uncertain significance	rs1355199594	RCV001022133\|RCV001873353;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675398	241675398	G	C	1:g.241675398G>C	-
NM_000143.4(FH):c.420A>G (p.Val140=)	2271	FH	Likely benign	rs1180706892	RCV000529136\|RCV001417908;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675402	241675402	T	C	1:g.241675402T>C	ClinGen:CA424076329	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.418G>C (p.Val140Leu)	2271	FH	Uncertain significance	rs746195750	RCV000195996\|RCV000821881;	N	MedGen:CN169374\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675404	241675404	C	G	1:g.241675404C>G	ClinGen:CA320385	CN169374 not specified;
NM_000143.4(FH):c.418del (p.Val140fs)	2271	FH	Pathogenic	rs1573885519	RCV000794856;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675404	241675404	AC	A	1:g.241675404_241675404del	-
NM_000143.4(FH):c.417G>A (p.Val139=)	2271	FH	Uncertain significance	rs768341401	RCV000695240;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675405	241675405	C	T	NC_000001.10:g.241675405C>T	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.416T>G (p.Val139Gly)	2271	FH	Uncertain significance	rs1573885528	RCV000816958;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675406	241675406	A	C	1:g.241675406A>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.415G>C (p.Val139Leu)	2271	FH	Uncertain significance	rs200343823	RCV001344951;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675407	241675407	C	G	241675407	-
NM_000143.4(FH):c.414C>T (p.Leu138=)	2271	FH	Likely benign	rs540968725	RCV000908521\|RCV001021952;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241675408	241675408	G	A	1:g.241675408G>A	-
NM_000143.4(FH):c.414C>G (p.Leu138=)	2271	FH	Likely benign	-1	RCV002148461;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675408	241675408	G	C	241675408	-
NM_000143.4(FH):c.412C>G (p.Leu138Val)	2271	FH	Uncertain significance	rs1466082062	RCV000559902\|RCV000561208;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241675410	241675410	G	C	1:g.241675410G>C	ClinGen:CA16621976	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.410C>T (p.Pro137Leu)	2271	FH	Uncertain significance	rs1660101853	RCV001215674\|RCV001760194;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241675412	241675412	G	A	1:g.241675412G>A	-
NM_000143.4(FH):c.410C>G (p.Pro137Arg)	2271	FH	Uncertain significance	rs1660101853	RCV001213376;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675412	241675412	G	C	1:g.241675412G>C	-
NM_000143.4(FH):c.405T>G (p.His135Gln)	2271	FH	Uncertain significance	rs1298815479	RCV001209597\|RCV001751383;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241675417	241675417	A	C	1:g.241675417A>C	-
NM_000143.4(FH):c.404A>G (p.His135Arg)	2271	FH	Conflicting interpretations of pathogenicity	rs786202833	RCV000165850\|RCV000691998\|RCV001557300;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241675418	241675418	T	C	1:g.241675418T>C	ClinGen:CA194346	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.404A>C (p.His135Pro)	2271	FH	Uncertain significance	rs786202833	RCV000545534;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675418	241675418	T	G	1:g.241675418T>G	ClinGen:CA345440176	C0342770 606812 Fumarase deficiency;
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.399T>C (p.Asn133=)	2271	FH	Likely benign	rs376056309	RCV000461930\|RCV000563998\|RCV001554936;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241675423	241675423	A	G	NC_000001.10:g.241675423A>G	ClinGen:CA1478686	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.393A>T (p.Lys131Asn)	2271	FH	Uncertain significance	-1	RCV001998516;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675429	241675429	T	A	241675429	-
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.379G>T (p.Val127Leu)	2271	FH	Uncertain significance	rs878853693	RCV000232407;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675443	241675443	C	A	NC_000001.10:g.241675443C>A	ClinGen:CA10581785	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.379-1G>A	2271	FH	Pathogenic	rs1553341623	RCV000552212\|RCV001783039;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241675444	241675444	C	T	1:g.241675444C>T	ClinGen:CA345440237	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.379-1G>C	2271	FH	Likely pathogenic	rs1553341623	RCV001066090;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675444	241675444	C	G	1:g.241675444C>G	-
NM_000143.4(FH):c.379-4G>A	2271	FH	Likely benign	-1	RCV002079057;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675447	241675447	C	T	241675447	-
NM_000143.4(FH):c.379-7dup	2271	FH	Benign	rs761444069	RCV000635328;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675449	241675450	G	GA	NC_000001.10:g.241675455dup	ClinGen:CA1478689	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.379-10T>G	2271	FH	Likely benign	rs201020261	RCV000542020\|RCV001409057;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675453	241675453	A	C	1:g.241675453A>C	ClinGen:CA40331994	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.379-16A>T	2271	FH	Likely benign	-1	RCV002077005;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675459	241675459	T	A	241675459	-
NM_000143.4(FH):c.379-17dup	2271	FH	Benign	-1	RCV002132377;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241675459	241675460	T	TA	241675459	-
NM_000143.4(FH):c.378+17G>A	2271	FH	Likely benign	-1	RCV002129405;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676886	241676886	C	T	241676886	-
NM_000143.4(FH):c.378+15G>A	2271	FH	Likely benign	-1	RCV002112169;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676888	241676888	C	T	241676888	-
NM_000143.4(FH):c.378+12T>C	2271	FH	Likely benign	-1	RCV002139821;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676891	241676891	A	G	241676891	-
NM_000143.4(FH):c.378+12del	2271	FH	Likely benign	-1	RCV002175367;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676891	241676891	TA	T	241676890	-
NM_000143.4(FH):c.378+10G>A	2271	FH	Likely benign	-1	RCV002139396;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676893	241676893	C	T	241676893	-
NM_000143.4(FH):c.378+8G>C	2271	FH	Likely benign	rs1573886359	RCV000939150;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676895	241676895	C	G	1:g.241676895C>G	-
NM_000143.4(FH):c.378+8G>A	2271	FH	Likely benign	rs1573886359	RCV000931677\|RCV001458738;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676895	241676895	C	T	1:g.241676895C>T	-
NM_000143.4(FH):c.378+7G>A	2271	FH	Likely benign	-1	RCV002135171;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676896	241676896	C	T	241676896	-
NM_000143.4(FH):c.378+6A>G	2271	FH	Uncertain significance	rs1348359637	RCV001050463;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676897	241676897	T	C	1:g.241676897T>C	-
NM_000143.4(FH):c.378+5G>A	2271	FH	Uncertain significance	rs1660143514	RCV001236200;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676898	241676898	C	T	1:g.241676898C>T	-
NM_000143.4(FH):c.378+4G>A	2271	FH	Uncertain significance	-1	RCV001879456;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676899	241676899	C	T	241676899	-
NM_000143.4(FH):c.378+1G>A	2271	FH	Likely pathogenic	rs1660143675	RCV001230427;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676902	241676902	C	T	1:g.241676902C>T	-
NM_000143.4(FH):c.376G>T (p.Glu126Ter)	2271	FH	Pathogenic	rs1660143834	RCV001043153;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676905	241676905	C	A	1:g.241676905C>A	-
NM_000143.4(FH):c.375T>C (p.Asp125=)	2271	FH	Likely benign	-1	RCV001476106;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676906	241676906	A	G	241676906	-
NM_000143.4(FH):c.373G>C (p.Asp125His)	2271	FH	Uncertain significance	-1	RCV002036795;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676908	241676908	C	G	241676908	-
NM_000143.4(FH):c.370G>A (p.Ala124Thr)	2271	FH	Uncertain significance	rs1660143983	RCV001297602;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676911	241676911	C	T	241676911	-
NM_000143.4(FH):c.370G>C (p.Ala124Pro)	2271	FH	Uncertain significance	-1	RCV002001408;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676911	241676911	C	G	241676911	-
NM_000143.4(FH):c.367G>C (p.Ala123Pro)	2271	FH	Uncertain significance	rs1660144128	RCV001327400;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676914	241676914	C	G	241676914	-
NM_000143.4(FH):c.366G>A (p.Lys122=)	2271	FH	Likely benign	rs1573886379	RCV001020848\|RCV001502711;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676915	241676915	C	T	1:g.241676915C>T	-
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.358A>C (p.Ile120Leu)	2271	FH	Uncertain significance	-1	RCV001884682;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676923	241676923	T	G	241676923	-
NM_000143.4(FH):c.357A>C (p.Ala119=)	2271	FH	Likely benign	rs767209674	RCV000218878\|RCV000461347;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676924	241676924	T	G	1:g.241676924T>G	ClinGen:CA1478710	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.356C>T (p.Ala119Val)	2271	FH	Uncertain significance	rs1395827785	RCV000806002;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676925	241676925	G	A	1:g.241676925G>A	-
NM_000143.4(FH):c.354T>C (p.Asn118=)	2271	FH	Likely benign	rs1465574376	RCV000870330\|RCV001453284;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676927	241676927	A	G	1:g.241676927A>G	-
NM_000143.4(FH):c.354T>G (p.Asn118Lys)	2271	FH	Uncertain significance	-1	RCV002017532;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676927	241676927	A	C	241676927	-
NM_000143.4(FH):c.353del (p.Asn118fs)	2271	FH	Pathogenic	rs1558401064	RCV000698823\|RCV001020556;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241676928	241676928	AT	A	NC_000001.10:g.241676929del	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.352A>G (p.Asn118Asp)	2271	FH	Uncertain significance	rs200738857	RCV000808925\|RCV001020531;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241676929	241676929	T	C	1:g.241676929T>C	-
NM_000143.4(FH):c.349G>C (p.Ala117Pro)	2271	FH	Pathogenic/Likely pathogenic	rs886039363	RCV000255340\|RCV001020456\|RCV001228346;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676932	241676932	C	G	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	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.344del (p.Lys115fs)	2271	FH	Pathogenic	rs1573886415	RCV000818841;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676937	241676937	CT	C	1:g.241676937_241676937del	-
NM_000143.4(FH):c.340C>A (p.Pro114Thr)	2271	FH	Uncertain significance	rs199539887	RCV001327665;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676941	241676941	G	T	241676941	-
NM_000143.4(FH):c.339T>A (p.Asp113Glu)	2271	FH	Uncertain significance	rs1029743950	RCV000821202;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676942	241676942	A	T	1:g.241676942A>T	-
NM_000143.4(FH):c.332G>A (p.Gly111Asp)	2271	FH	Uncertain significance	rs764340490	RCV001071788;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676949	241676949	C	T	1:g.241676949C>T	-
NM_000143.4(FH):c.330T>C (p.Tyr110=)	2271	FH	Likely benign	-1	RCV001502391;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676951	241676951	A	G	241676951	-
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.326A>T (p.Asp109Val)	2271	FH	Uncertain significance	rs1573886432	RCV001019537\|RCV001241725;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676955	241676955	T	A	1:g.241676955T>A	-
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.301_319del (p.Arg101fs)	2271	FH	Pathogenic	rs1558401094	RCV000689769\|RCV001018055;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241676962	241676980	TTTACTTCAGCGGCCGCTCG	T	1:g.241676962_241676980del	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.318A>G (p.Val106=)	2271	FH	Likely benign	-1	RCV002095055;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676963	241676963	T	C	241676963	-
NM_000143.4(FH):c.317T>C (p.Val106Ala)	2271	FH	Uncertain significance	rs1382226356	RCV001019019\|RCV001766846\|RCV001832344;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676964	241676964	A	G	1:g.241676964A>G	-
NM_000143.4(FH):c.316del (p.Glu105_Val106insTer)	2271	FH	Pathogenic	rs876658569	RCV000213630\|RCV000275674\|RCV001051735;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676965	241676965	AC	A	1:g.241676965_241676965del	ClinGen:CA10577688	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.312T>C (p.Ala104=)	2271	FH	Likely benign	rs1311053776	RCV000840848\|RCV001415202;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676969	241676969	A	G	1:g.241676969A>G	-
NM_000143.4(FH):c.310G>A (p.Ala104Thr)	2271	FH	Uncertain significance	rs1303488878	RCV001043329;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676971	241676971	C	T	1:g.241676971C>T	-
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.309C>A (p.Ala103=)	2271	FH	Likely benign	-1	RCV002159955;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676972	241676972	G	T	241676972	-
NM_000143.4(FH):c.308C>T (p.Ala103Val)	2271	FH	Uncertain significance	rs1256116208	RCV001018556\|RCV001036166\|RCV001772194;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241676973	241676973	G	A	1:g.241676973G>A	-
NM_000143.4(FH):c.306G>A (p.Ala102=)	2271	FH	Benign/Likely benign	rs142283468	RCV000531005\|RCV000571296\|RCV001704667;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241676975	241676975	C	T	1:g.241676975C>T	ClinGen:CA1478715	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>A (p.Arg101Gln)	2271	FH	Uncertain significance	rs75086406	RCV000466487\|RCV001018184\|RCV001546164;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241676979	241676979	C	T	NC_000001.10:g.241676979C>T	ClinGen:CA1478716	C0342770 606812 Fumarase deficiency;
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.294C>G (p.Ile98Met)	2271	FH	Uncertain significance	rs1573886484	RCV001017627\|RCV001274350;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676987	241676987	G	C	1:g.241676987G>C	-
NM_000143.4(FH):c.292A>G (p.Ile98Val)	2271	FH	Uncertain significance	rs1660147766	RCV001347634;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676989	241676989	T	C	241676989	-
NM_000143.4(FH):c.289G>C (p.Gly97Arg)	2271	FH	Uncertain significance	rs1660147877	RCV001071404;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676992	241676992	C	G	1:g.241676992C>G	-
NM_000143.4(FH):c.288T>C (p.Phe96=)	2271	FH	Likely benign	rs747348623	RCV000469311;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676993	241676993	A	G	NC_000001.10:g.241676993A>G	ClinGen:CA1478717	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.288del (p.Phe96fs)	2271	FH	Pathogenic	-1	RCV001922635;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676993	241676993	CA	C	241676992	-
NM_000143.4(FH):c.285T>C (p.Ala95=)	2271	FH	Likely benign	rs973577283	RCV000935717\|RCV001462228;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676996	241676996	A	G	1:g.241676996A>G	-
NM_000143.4(FH):c.284C>T (p.Ala95Val)	2271	FH	Uncertain significance	rs1660148115	RCV001320190;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241676997	241676997	G	A	241676997	-
NM_000143.4(FH):c.278T>C (p.Ile93Thr)	2271	FH	Uncertain significance	rs1660148233	RCV001048614;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241677003	241677003	A	G	1:g.241677003A>G	-
NM_000143.4(FH):c.272C>T (p.Pro91Leu)	2271	FH	Uncertain significance	rs1455612736	RCV001216850;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241677009	241677009	G	A	1:g.241677009G>A	-
NM_000143.4(FH):c.271C>G (p.Pro91Ala)	2271	FH	Uncertain significance	-1	RCV002010185;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241677010	241677010	G	C	241677010	-
NM_000143.4(FH):c.270C>G (p.Thr90=)	2271	FH	Likely benign	rs748852152	RCV000222097\|RCV001396829;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241677011	241677011	G	C	1:g.241677011G>C	ClinGen:CA10577689	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.270C>T (p.Thr90=)	2271	FH	Benign/Likely benign	rs748852152	RCV000464548\|RCV001536826\|RCV001821317;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202\|MedGen:CN169374	1	241677011	241677011	G	A	NC_000001.10:g.241677011G>A	ClinGen:CA1478720	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.269C>T (p.Thr90Ile)	2271	FH	Uncertain significance	rs1401508226	RCV000792494;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241677012	241677012	G	A	1:g.241677012G>A	-
NM_000143.4(FH):c.268-2A>G	2271	FH	Pathogenic	rs1064793741	RCV000487137\|RCV001390078;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241677015	241677015	T	C	1:g.241677015T>C	ClinGen:CA16617119	CN517202 not provided;
NM_000143.4(FH):c.268-3_268-2del	2271	FH	Likely pathogenic	-1	RCV002035701;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241677015	241677016	CTA	C	241677014	-
NM_000143.4(FH):c.268-21_268-8del	2271	FH	Uncertain significance	-1	RCV002019190;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241677021	241677034	TTAATCAGAAAAATA	T	241677020	-
NM_000143.4(FH):c.268-15del	2271	FH	Benign	-1	RCV002088754;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241677028	241677028	GA	G	241677027	-
NM_000143.4(FH):c.268-18T>A	2271	FH	Likely benign	-1	RCV002096079;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241677031	241677031	A	T	241677031	-
NC_000001.10:g.(?_241677041)_(241680477_?)del	2271	FH	Uncertain significance	-1	RCV001966094;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241677041	241680477	na	na	-1	-
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;
NC_000001.11:g.(?_241517172)_(241519722_?)dup	2271	FH	Uncertain significance	-1	RCV001031986;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680472	241683022	na	na	-1	-
NC_000001.10:g.(?_241680472)_(241683022_?)del	2271	FH	Pathogenic	-1	RCV001960706;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680472	241683022	na	na	-1	-
NM_000143.4(FH):c.267+8G>A	2271	FH	Likely benign	rs750447887	RCV000919766;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680474	241680474	C	T	1:g.241680474C>T	-
NM_000143.4(FH):c.267+7G>A	2271	FH	Likely benign	-1	RCV001432481;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680475	241680475	C	T	241680475	-
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.267+1G>A	2271	FH	Pathogenic	rs878853691	RCV000467593\|RCV001782933;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241680481	241680481	C	T	NC_000001.10:g.241680481C>T	ClinGen:CA16610064	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.267+1G>T	2271	FH	Pathogenic	-1	RCV001385015;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680481	241680481	C	A	241680481	-
NM_000143.4(FH):c.267A>C (p.Pro89=)	2271	FH	Conflicting interpretations of pathogenicity	rs1060500897	RCV000460741\|RCV000616079\|RCV001016292;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241680482	241680482	T	G	NC_000001.10:g.241680482T>G	ClinGen:CA16610087	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.267A>G (p.Pro89=)	2271	FH	Uncertain significance	rs1060500897	RCV001064568;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680482	241680482	T	C	1:g.241680482T>C	-
NM_000143.4(FH):c.264G>C (p.Met88Ile)	2271	FH	Uncertain significance	-1	RCV002010635;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680485	241680485	C	G	241680485	-
NM_000143.4(FH):c.262A>C (p.Met88Leu)	2271	FH	Uncertain significance	rs1660240175	RCV001233097;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680487	241680487	T	G	1:g.241680487T>G	-
NM_000143.4(FH):c.260G>A (p.Arg87His)	2271	FH	Uncertain significance	rs200007371	RCV001016095\|RCV001051373;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680489	241680489	C	T	1:g.241680489C>T	-
NM_000143.4(FH):c.260G>T (p.Arg87Leu)	2271	FH	Uncertain significance	rs200007371	RCV001223754;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680489	241680489	C	A	1:g.241680489C>A	-
NM_000143.4(FH):c.259C>T (p.Arg87Cys)	2271	FH	Uncertain significance	rs139642944	RCV000467729\|RCV000568361\|RCV001530785;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241680490	241680490	G	A	NC_000001.10:g.241680490G>A	ClinGen:CA1478738	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.255A>G (p.Thr85=)	2271	FH	Likely benign	-1	RCV002149015;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680494	241680494	T	C	241680494	-
NM_000143.4(FH):c.254C>G (p.Thr85Arg)	2271	FH	Uncertain significance	rs1324632356	RCV001322322;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680495	241680495	G	C	241680495	-
NM_000143.4(FH):c.252G>A (p.Val84=)	2271	FH	Likely benign	-1	RCV002167418;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680497	241680497	C	T	241680497	-
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.249T>A (p.Gly83=)	2271	FH	Likely benign	-1	RCV002156878;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680500	241680500	A	T	241680500	-
NM_000143.4(FH):c.245G>A (p.Gly82Glu)	2271	FH	Uncertain significance	rs1558402197	RCV000704582;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680504	241680504	C	T	1:g.241680504C>T	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.243T>A (p.Ile81=)	2271	FH	Likely benign	-1	RCV002096766;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680506	241680506	A	T	241680506	-
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.240G>A (p.Lys80=)	2271	FH	Likely benign	rs1573888362	RCV001015442\|RCV002068908;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680509	241680509	C	T	1:g.241680509C>T	-
NM_000143.4(FH):c.240G>C (p.Lys80Asn)	2271	FH	Uncertain significance	rs1573888362	RCV001233377;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680509	241680509	C	G	1:g.241680509C>G	-
NM_000143.4(FH):c.239A>C (p.Lys80Thr)	2271	FH	Uncertain significance	rs1660241142	RCV001326221;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680510	241680510	T	G	241680510	-
NM_000143.4(FH):c.237dup (p.Lys80Ter)	2271	FH	Pathogenic	rs1553341945	RCV000567476\|RCV001055059;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680511	241680512	T	TA	NC_000001.10:g.241680514dup	ClinGen:CA658657002	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.234C>A (p.Asn78Lys)	2271	FH	Uncertain significance	rs993218685	RCV001015256\|RCV001340608;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680515	241680515	G	T	1:g.241680515G>T	-
NM_000143.4(FH):c.232A>C (p.Asn78His)	2271	FH	Uncertain significance	rs1558402209	RCV000699354;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680517	241680517	T	G	NC_000001.10:g.241680517T>G	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.230T>C (p.Met77Thr)	2271	FH	Uncertain significance	rs1250096728	RCV000817029;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680519	241680519	A	G	1:g.241680519A>G	-
NM_000143.4(FH):c.228G>A (p.Thr76=)	2271	FH	Likely benign	rs373586584	RCV000527779;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680521	241680521	C	T	1:g.241680521C>T	ClinGen:CA1478744	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.228G>C (p.Thr76=)	2271	FH	Likely benign	rs373586584	RCV000635325\|RCV001015081;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241680521	241680521	C	G	1:g.241680521C>G	ClinGen:CA1478743	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.228G>T (p.Thr76=)	2271	FH	Likely benign	rs373586584	RCV000914687;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680521	241680521	C	A	1:g.241680521C>A	-
NM_000143.4(FH):c.227C>T (p.Thr76Met)	2271	FH	Uncertain significance	rs778578307	RCV000796492;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680522	241680522	G	A	1:g.241680522G>A	-
NM_000143.4(FH):c.222A>T (p.Arg74Ser)	2271	FH	Uncertain significance	rs146739519	RCV000571616\|RCV000635311;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680527	241680527	T	A	1:g.241680527T>A	ClinGen:CA1478746	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.221G>A (p.Arg74Lys)	2271	FH	Pathogenic	-1	RCV001890419;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680528	241680528	C	T	241680528	-
NM_000143.4(FH):c.219G>A (p.Val73=)	2271	FH	Conflicting interpretations of pathogenicity	-1	RCV001505509\|RCV001751779;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241680530	241680530	C	T	241680530	-
NM_000143.4(FH):c.217G>A (p.Val73Met)	2271	FH	Uncertain significance	rs201878591	RCV000163293\|RCV000467508\|RCV001532106;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241680532	241680532	C	T	1:g.241680532C>T	ClinGen:CA187930	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.216C>T (p.Thr72=)	2271	FH	Likely benign	rs1341995835	RCV000878842;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680533	241680533	G	A	1:g.241680533G>A	-
NM_000143.4(FH):c.215C>A (p.Thr72Asn)	2271	FH	Uncertain significance	-1	RCV002038282;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680534	241680534	G	T	241680534	-
NM_000143.4(FH):c.214A>C (p.Thr72Pro)	2271	FH	Conflicting interpretations of pathogenicity	rs886039362	RCV000254803\|RCV001062945;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680535	241680535	T	G	1:g.241680535T>G	ClinGen:CA10588293	CN169374 not specified;
NM_000143.4(FH):c.210C>T (p.Ala70=)	2271	FH	Likely benign	rs1573888428	RCV000864550;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680539	241680539	G	A	1:g.241680539G>A	-
NM_000143.4(FH):c.209C>T (p.Ala70Val)	2271	FH	Uncertain significance	rs1573888433	RCV000804160;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680540	241680540	G	A	1:g.241680540G>A	-
NM_000143.4(FH):c.208G>A (p.Ala70Thr)	2271	FH	Conflicting interpretations of pathogenicity	rs587782207	RCV000130874\|RCV000200494\|RCV000462728;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680541	241680541	C	T	1:g.241680541C>T	ClinGen:CA167291	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.207C>T (p.Gly69=)	2271	FH	Likely benign	rs370392829	RCV000457757\|RCV000562985\|RCV001584138;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241680542	241680542	G	A	NC_000001.10:g.241680542G>A	ClinGen:CA1478748	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.207C>G (p.Gly69=)	2271	FH	Likely benign	rs370392829	RCV000933873\|RCV001395822;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680542	241680542	G	C	1:g.241680542G>C	-
NM_000143.4(FH):c.206G>A (p.Gly69Asp)	2271	FH	Uncertain significance	rs1660243078	RCV001308769;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680543	241680543	C	T	241680543	-
NM_000143.4(FH):c.204T>A (p.Tyr68Ter)	2271	FH	Pathogenic	rs1060500883	RCV000468176\|RCV000493845\|RCV001782930;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241680545	241680545	A	T	NC_000001.10:g.241680545A>T	ClinGen:CA16610089	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.204T>C (p.Tyr68=)	2271	FH	Likely benign	-1	RCV001429511;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680545	241680545	A	G	241680545	-
NM_000143.4(FH):c.203A>G (p.Tyr68Cys)	2271	FH	Uncertain significance	-1	RCV001370748\|RCV001762647;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241680546	241680546	T	C	241680546	-
NM_000143.4(FH):c.201T>G (p.Tyr67Ter)	2271	FH	Pathogenic	rs1558402241	RCV000699083\|RCV001784335;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241680548	241680548	A	C	NC_000001.10:g.241680548A>C	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.199T>G (p.Tyr67Asp)	2271	FH	Uncertain significance	rs1660243497	RCV001245493;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680550	241680550	A	C	1:g.241680550A>C	-
NM_000143.4(FH):c.198G>A (p.Lys66=)	2271	FH	Likely benign	-1	RCV002163418;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680551	241680551	C	T	241680551	-
NM_000143.4(FH):c.194A>G (p.Asp65Gly)	2271	FH	Likely pathogenic	rs145116688	RCV000197441\|RCV000456662\|RCV001013787;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241680555	241680555	T	C	1:g.241680555T>C	ClinGen:CA321905	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.194A>T (p.Asp65Val)	2271	FH	Uncertain significance	rs145116688	RCV000574732\|RCV000685703;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680555	241680555	T	A	1:g.241680555T>A	ClinGen:CA40335952	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.193G>A (p.Asp65Asn)	2271	FH	Uncertain significance	rs769956664	RCV000549382;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680556	241680556	C	T	1:g.241680556C>T	ClinGen:CA1478750	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.193G>T (p.Asp65Tyr)	2271	FH	Uncertain significance	rs769956664	RCV001057944;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680556	241680556	C	A	1:g.241680556C>A	-
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.185_188dup (p.Asn64fs)	2271	FH	Pathogenic	rs1558402255	RCV000707473;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680560	241680561	T	TGGCA	NC_000001.10:g.241680561_241680564dup	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.189A>C (p.Pro63=)	2271	FH	Likely benign	-1	RCV001465184;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680560	241680560	T	G	241680560	-
NM_000143.4(FH):c.187C>T (p.Pro63Ser)	2271	FH	Uncertain significance	rs1573888488	RCV000793184;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680562	241680562	G	A	1:g.241680562G>A	-
NM_000143.4(FH):c.184G>A (p.Val62Met)	2271	FH	Uncertain significance	rs199894369	RCV001350232;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680565	241680565	C	T	241680565	-
NM_000143.4(FH):c.183G>C (p.Lys61Asn)	2271	FH	Uncertain significance	rs766840026	RCV001234315;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680566	241680566	C	G	1:g.241680566C>G	-
NM_000143.4(FH):c.183G>A (p.Lys61=)	2271	FH	Likely benign	-1	RCV002081346;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680566	241680566	C	T	241680566	-
NM_000143.4(FH):c.181A>C (p.Lys61Gln)	2271	FH	Uncertain significance	rs1660244612	RCV001230326;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680568	241680568	T	G	1:g.241680568T>G	-
NM_000143.4(FH):c.180A>G (p.Leu60=)	2271	FH	Likely benign	rs1573888502	RCV000841456\|RCV002067534;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680569	241680569	T	C	1:g.241680569T>C	-
NM_000143.4(FH):c.174_177dup (p.Leu60Ter)	2271	FH	Pathogenic	rs1131691246	RCV000494321\|RCV000705276;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680571	241680572	G	GTTCA	NC_000001.10:g.241680572_241680575dup	ClinGen:CA645369175	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.178C>T (p.Leu60=)	2271	FH	Likely benign	rs201146499	RCV000868151;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680571	241680571	G	A	1:g.241680571G>A	-
NM_000143.4(FH):c.177A>G (p.Glu59=)	2271	FH	Likely benign	-1	RCV001435235;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680572	241680572	T	C	241680572	-
NM_000143.4(FH):c.175G>T (p.Glu59Ter)	2271	FH	Pathogenic	rs1573888513	RCV000807763\|RCV001784432;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241680574	241680574	C	A	1:g.241680574C>A	-
NM_000143.4(FH):c.172G>A (p.Gly58Ser)	2271	FH	Uncertain significance	rs11545659	RCV000685690\|RCV001012881\|RCV001731888;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241680577	241680577	C	T	NC_000001.10:g.241680577C>T	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.171T>C (p.Phe57=)	2271	FH	Likely benign	rs1573888522	RCV000939473\|RCV001465394;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680578	241680578	A	G	1:g.241680578A>G	-
NM_000143.4(FH):c.170T>C (p.Phe57Ser)	2271	FH	Uncertain significance	rs759884607	RCV001337212;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680579	241680579	A	G	241680579	-
NM_000143.4(FH):c.168C>T (p.Thr56=)	2271	FH	Likely benign	-1	RCV001461327;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680581	241680581	G	A	241680581	-
NM_000143.4(FH):c.167C>T (p.Thr56Ile)	2271	FH	Uncertain significance	rs1433872618	RCV001012693\|RCV001862789;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680582	241680582	G	A	1:g.241680582G>A	-
NM_000143.4(FH):c.167C>G (p.Thr56Ser)	2271	FH	Uncertain significance	rs1433872618	RCV001012692\|RCV001348096;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680582	241680582	G	C	1:g.241680582G>C	-
NM_000143.4(FH):c.167C>A (p.Thr56Asn)	2271	FH	Uncertain significance	-1	RCV001940242;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680582	241680582	G	T	241680582	-
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.164A>G (p.Asp55Gly)	2271	FH	Uncertain significance	rs1660245400	RCV001231406;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680585	241680585	T	C	1:g.241680585T>C	-
NM_000143.4(FH):c.163G>A (p.Asp55Asn)	2271	FH	Uncertain significance	rs1660245455	RCV001216082;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680586	241680586	C	T	1:g.241680586C>T	-
NM_000143.4(FH):c.159A>G (p.Glu53=)	2271	FH	Uncertain significance	rs202056884	RCV001220272;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680590	241680590	T	C	1:g.241680590T>C	-
NM_000143.4(FH):c.157G>A (p.Glu53Lys)	2271	FH	Uncertain significance	rs863224013	RCV001347580;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680592	241680592	C	T	241680592	-
NM_000143.4(FH):c.154A>T (p.Ile52Leu)	2271	FH	Uncertain significance	rs543844061	RCV000565315\|RCV001273185;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680595	241680595	T	A	1:g.241680595T>A	ClinGen:CA1478757	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.154A>G (p.Ile52Val)	2271	FH	Uncertain significance	rs543844061	RCV001238209;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680595	241680595	T	C	1:g.241680595T>C	-
NM_000143.4(FH):c.153G>A (p.Arg51=)	2271	FH	Likely benign	rs757002779	RCV000539305;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680596	241680596	C	T	1:g.241680596C>T	ClinGen:CA1478758	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.152G>C (p.Arg51Pro)	2271	FH	Uncertain significance	rs976734433	RCV000797723;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680597	241680597	C	G	1:g.241680597C>G	-
NM_000143.4(FH):c.152G>A (p.Arg51Gln)	2271	FH	Pathogenic	-1	RCV001959172;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680597	241680597	C	T	241680597	-
NM_000143.4(FH):c.151C>T (p.Arg51Trp)	2271	FH	Uncertain significance	rs778678782	RCV000804384;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680598	241680598	G	A	1:g.241680598G>A	-
NM_000143.4(FH):c.151C>A (p.Arg51=)	2271	FH	Uncertain significance	rs778678782	RCV001338183;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680598	241680598	G	T	241680598	-
NM_000143.4(FH):c.150C>T (p.Phe50=)	2271	FH	Likely benign	-1	RCV002147190;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680599	241680599	G	A	241680599	-
NM_000143.4(FH):c.148T>C (p.Phe50Leu)	2271	FH	Uncertain significance	-1	RCV001959823;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680601	241680601	A	G	241680601	-
NM_000143.4(FH):c.143A>T (p.Asn48Ile)	2271	FH	Uncertain significance	-1	RCV001943609;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680606	241680606	T	A	241680606	-
NM_000143.4(FH):c.141A>G (p.Gln47=)	2271	FH	Likely benign	rs1573888563	RCV000871477\|RCV001011451\|RCV001483695;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680608	241680608	T	C	1:g.241680608T>C	-
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.133G>T (p.Ala45Ser)	2271	FH	Uncertain significance	rs1260007300	RCV001010940\|RCV001860654;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680616	241680616	C	A	1:g.241680616C>A	-
NM_000143.4(FH):c.133-3T>C	2271	FH	Conflicting interpretations of pathogenicity	rs1553341989	RCV000703180\|RCV001011105\|RCV001698486;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241680619	241680619	A	G	1:g.241680619A>G	ClinGen:CA658795649	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.133-8G>C	2271	FH	Likely benign	-1	RCV001484668;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680624	241680624	C	G	241680624	-
NM_000143.4(FH):c.133-10T>C	2271	FH	Likely benign	-1	RCV002129581;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241680626	241680626	A	G	241680626	-
NM_000143.4(FH):c.132+20C>T	2271	FH	Likely benign	-1	RCV002132806;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682871	241682871	G	A	241682871	-
NM_000143.4(FH):c.132+19C>T	2271	FH	Likely benign	-1	RCV002111812;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682872	241682872	G	A	241682872	-
NM_000143.4(FH):c.132+13C>A	2271	FH	Likely benign	-1	RCV002186638;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682878	241682878	G	T	241682878	-
NC_000001.11:g.(?_241519581)_(241519732_?)del	2271	FH	Pathogenic	-1	RCV001032202;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682881	241683032	na	na	-1	-
NC_000001.10:g.(?_241682881)_(241683022_?)del	2271	FH	Pathogenic	-1	RCV001386939;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682881	241683022	na	na	-1	-
NM_000143.4(FH):c.132+7G>A	2271	FH	Likely benign	-1	RCV001502445;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682884	241682884	C	T	241682884	-
NC_000001.11:g.(?_241519585)_(241519728_?)del	2271	FH	Pathogenic	-1	RCV000708542;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682885	241683028	na	na		-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.132+5G>A	2271	FH	Uncertain significance	rs1060499627	RCV000493339\|RCV000635320;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682886	241682886	C	T	NC_000001.10:g.241682886C>T	ClinGen:CA645369152	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.132G>A (p.Met44Ile)	2271	FH	Pathogenic	rs863223982	RCV000561722\|RCV000807455;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682891	241682891	C	T	1:g.241682891C>T	ClinGen:CA323363	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.120_130del (p.Ala41fs)	2271	FH	Pathogenic	rs1573889860	RCV000796120\|RCV001784412;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241682893	241682903	ATTCGAGCCGCG	A	1:g.241682893_241682903del	-
NM_000143.4(FH):c.128G>T (p.Arg43Leu)	2271	FH	Uncertain significance	-1	RCV001892563;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682895	241682895	C	A	241682895	-
NM_000143.4(FH):c.127C>G (p.Arg43Gly)	2271	FH	Uncertain significance	rs200496951	RCV000537507;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682896	241682896	G	C	1:g.241682896G>C	ClinGen:CA345442626	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.127C>T (p.Arg43Ter)	2271	FH	Pathogenic	rs200496951	RCV000798143\|RCV001784418;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241682896	241682896	G	A	1:g.241682896G>A	-
NM_000143.4(FH):c.125C>T (p.Ala42Val)	2271	FH	Uncertain significance	rs1194980336	RCV001324492;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682898	241682898	G	A	241682898	-
NM_000143.4(FH):c.124G>T (p.Ala42Ser)	2271	FH	Uncertain significance	-1	RCV001871278;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682899	241682899	C	A	241682899	-
NM_000143.4(FH):c.123G>A (p.Ala41=)	2271	FH	Uncertain significance	rs1660317620	RCV001235765;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682900	241682900	C	T	1:g.241682900C>T	-
NM_000143.4(FH):c.123G>C (p.Ala41=)	2271	FH	Likely benign	-1	RCV001398285;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682900	241682900	C	G	241682900	-
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.120C>T (p.Asn40=)	2271	FH	Likely benign	rs876658186	RCV000215382\|RCV000951569;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682903	241682903	G	A	1:g.241682903G>A	ClinGen:CA10577690	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.120C>G (p.Asn40Lys)	2271	FH	Uncertain significance	rs876658186	RCV001010297\|RCV001037079;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682903	241682903	G	C	1:g.241682903G>C	-
NM_000143.4(FH):c.102_120del (p.Ser35fs)	2271	FH	Pathogenic	-1	RCV001385257;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682903	241682921	CGTTCGGAGGCCAAAACGAG	C	241682902	-
NM_000143.4(FH):c.117G>T (p.Pro39=)	2271	FH	Likely benign	rs1291665514	RCV000870467;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682906	241682906	C	A	1:g.241682906C>A	-
NM_000143.4(FH):c.116C>T (p.Pro39Leu)	2271	FH	Uncertain significance	-1	RCV001998081;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682907	241682907	G	A	241682907	-
NM_000143.4(FH):c.115C>T (p.Pro39Ser)	2271	FH	Uncertain significance	-1	RCV002040067;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682908	241682908	G	A	241682908	-
NM_000143.4(FH):c.114T>C (p.Pro38=)	2271	FH	Likely benign	-1	RCV002145050;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682909	241682909	A	G	241682909	-
NM_000143.4(FH):c.113C>T (p.Pro38Leu)	2271	FH	Uncertain significance	-1	RCV001964613;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682910	241682910	G	A	241682910	-
NM_000143.4(FH):c.110G>C (p.Trp37Ser)	2271	FH	Uncertain significance	rs1660318244	RCV001341020;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682913	241682913	C	G	241682913	-
NM_000143.4(FH):c.109del (p.Trp37fs)	2271	FH	Pathogenic	-1	RCV001382925;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682914	241682914	CA	C	241682913	-
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.105G>C (p.Ser35=)	2271	FH	Likely benign	rs181655698	RCV000888784\|RCV001009810\|RCV001575318;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241682918	241682918	C	G	1:g.241682918C>G	-
NM_000143.4(FH):c.104C>G (p.Ser35Trp)	2271	FH	Uncertain significance	rs942065027	RCV001017127\|RCV001574592\|RCV001827191;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682919	241682919	G	C	1:g.241682919G>C	-
NM_000143.4(FH):c.104C>T (p.Ser35Leu)	2271	FH	Uncertain significance	rs942065027	RCV001302071\|RCV001760354;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241682919	241682919	G	A	241682919	-
NM_000143.4(FH):c.103T>C (p.Ser35Pro)	2271	FH	Uncertain significance	rs1573889890	RCV000804154;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682920	241682920	A	G	1:g.241682920A>G	-
NM_000143.4(FH):c.102del (p.Ser35fs)	2271	FH	Pathogenic	-1	RCV001380891;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682921	241682921	AG	A	241682920	-
NM_000143.4(FH):c.101C>T (p.Pro34Leu)	2271	FH	Uncertain significance	-1	RCV002049653;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682922	241682922	G	A	241682922	-
NM_000143.4(FH):c.100C>T (p.Pro34Ser)	2271	FH	Uncertain significance	rs1191023697	RCV001280071;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682923	241682923	G	A	1:g.241682923G>A	-
NM_000143.4(FH):c.98T>G (p.Val33Gly)	2271	FH	Uncertain significance	rs1319755767	RCV000562224\|RCV001046087;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682925	241682925	A	C	1:g.241682925A>C	ClinGen:CA345442710	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.96C>A (p.Ala32=)	2271	FH	Uncertain significance	rs750087000	RCV000994326\|RCV001248716;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682927	241682927	G	T	1:g.241682927G>T	-
NM_000143.4(FH):c.96C>G (p.Ala32=)	2271	FH	Likely benign	-1	RCV002122411;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682927	241682927	G	C	241682927	-
NM_000143.4(FH):c.95C>T (p.Ala32Val)	2271	FH	Uncertain significance	-1	RCV001891107;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682928	241682928	G	A	241682928	-
NM_000143.4(FH):c.94G>T (p.Ala32Ser)	2271	FH	Uncertain significance	rs1371664717	RCV000569300\|RCV000706461;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682929	241682929	C	A	1:g.241682929C>A	ClinGen:CA345442723	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.92C>T (p.Ala31Val)	2271	FH	Uncertain significance	rs876659347	RCV000219137\|RCV001853556;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682931	241682931	G	A	1:g.241682931G>A	ClinGen:CA10577691	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.92C>A (p.Ala31Glu)	2271	FH	Uncertain significance	rs876659347	RCV001303948;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682931	241682931	G	T	241682931	-
NM_000143.4(FH):c.37_92del (p.Pro13fs)	2271	FH	Pathogenic	-1	RCV001981910;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682931	241682986	CGCGCCACCCAAGCCGGGAGCCGAAGCTAAGGCTGCGGCTGGAGCCCGCACGAGGGG	C	241682930	-
NM_000143.4(FH):c.90C>T (p.Gly30=)	2271	FH	Uncertain significance	rs1262096783	RCV000689932;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682933	241682933	G	A	NC_000001.10:g.241682933G>A	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.90C>A (p.Gly30=)	2271	FH	Likely benign	rs1262096783	RCV000928138;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682933	241682933	G	T	1:g.241682933G>T	-
NM_000143.4(FH):c.87_89del (p.Gly30del)	2271	FH	Uncertain significance	-1	RCV001911408;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682934	241682936	GCCA	G	241682933	-
NM_000143.4(FH):c.81C>T (p.Gly27=)	2271	FH	Uncertain significance	rs1206696042	RCV001059089;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682942	241682942	G	A	1:g.241682942G>A	-
NM_000143.4(FH):c.80G>C (p.Gly27Ala)	2271	FH	Uncertain significance	rs1339215584	RCV000692463;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682943	241682943	C	G	NC_000001.10:g.241682943C>G	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.78C>T (p.Pro26=)	2271	FH	Likely benign	rs1029677665	RCV001026931\|RCV001707819\|RCV002066528;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682945	241682945	G	A	1:g.241682945G>A	ClinGen:CA40337954	CN169374 not specified;
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.74C>T (p.Ala25Val)	2271	FH	Uncertain significance	rs1573889933	RCV000802280;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682949	241682949	G	A	1:g.241682949G>A	-
NM_000143.4(FH):c.73G>A (p.Ala25Thr)	2271	FH	Uncertain significance	rs999146815	RCV001026389\|RCV001243101;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682950	241682950	C	T	1:g.241682950C>T	-
NM_000143.4(FH):c.32_69del (p.Ser11fs)	2271	FH	Pathogenic	-1	RCV001390365;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682954	241682991	AAGCTAAGGCTGCGGCTGGAGCCCGCACGAGGGGACGCG	A	241682953	-
NM_000143.4(FH):c.68C>T (p.Ala23Val)	2271	FH	Uncertain significance	-1	RCV001906826;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682955	241682955	G	A	241682955	-
NM_000143.4(FH):c.67G>A (p.Ala23Thr)	2271	FH	Uncertain significance	rs1573889943	RCV001025670\|RCV001827208;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682956	241682956	C	T	1:g.241682956C>T	-
NM_000143.4(FH):c.65T>A (p.Leu22Ter)	2271	FH	Conflicting interpretations of pathogenicity	rs1031919395	RCV000695135\|RCV001771965;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241682958	241682958	A	T	NC_000001.10:g.241682958A>T	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.65T>G (p.Leu22Ter)	2271	FH	Conflicting interpretations of pathogenicity	rs1031919395	RCV001025446\|RCV001244045;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682958	241682958	A	C	1:g.241682958A>C	-
NM_000143.4(FH):c.65T>C (p.Leu22Ser)	2271	FH	Uncertain significance	-1	RCV001984270;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682958	241682958	A	G	241682958	-
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.62C>T (p.Ala21Val)	2271	FH	Uncertain significance	-1	RCV001888202;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682961	241682961	G	A	241682961	-
NM_000143.4(FH):c.59C>T (p.Ala20Val)	2271	FH	Uncertain significance	rs1573889953	RCV001024776\|RCV001832358;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682964	241682964	G	A	1:g.241682964G>A	-
NM_000143.4(FH):c.58G>A (p.Ala20Thr)	2271	FH	Uncertain significance	rs572324497	RCV001024665\|RCV001220687;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682965	241682965	C	T	1:g.241682965C>T	-
NM_000143.4(FH):c.57C>A (p.Ala19=)	2271	FH	Uncertain significance	-1	RCV001370188;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682966	241682966	G	T	241682966	-
NM_000143.4(FH):c.57C>T (p.Ala19=)	2271	FH	Likely benign	-1	RCV001429986;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682966	241682966	G	A	241682966	-
NM_000143.4(FH):c.54A>T (p.Pro18=)	2271	FH	Likely benign	-1	RCV001423619;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682969	241682969	T	A	241682969	-
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.52C>G (p.Pro18Ala)	2271	FH	Uncertain significance	rs1660321288	RCV001309543;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682971	241682971	G	C	241682971	-
NM_000143.4(FH):c.50C>T (p.Ala17Val)	2271	FH	Conflicting interpretations of pathogenicity	rs111548093	RCV000566056\|RCV000635321\|RCV001722092;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241682973	241682973	G	A	1:g.241682973G>A	ClinGen:CA321044	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.49G>C (p.Ala17Pro)	2271	FH	Conflicting interpretations of pathogenicity	rs755886213	RCV000563316\|RCV001063904;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682974	241682974	C	G	1:g.241682974C>G	ClinGen:CA1478780	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.48G>T (p.Arg16=)	2271	FH	Likely benign	rs1468361143	RCV000558847\|RCV001023232;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241682975	241682975	C	A	1:g.241682975C>A	ClinGen:CA424076837	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.48G>A (p.Arg16=)	2271	FH	Uncertain significance	rs1468361143	RCV001346654;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682975	241682975	C	T	241682975	-
NM_000143.4(FH):c.46C>T (p.Arg16Trp)	2271	FH	Uncertain significance	rs1324875131	RCV000700957;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682977	241682977	G	A	NC_000001.10:g.241682977G>A	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup)	2271	FH	Uncertain significance	rs1395036789	RCV001042383;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682979	241682980	A	ACGAGGGGACGCGAGCGCG	1:g.241682979_241682980insCGAGGGGACGCGAGCGCG	-
NM_000143.4(FH):c.44T>C (p.Val15Ala)	2271	FH	Uncertain significance	rs1660322018	RCV001204220;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682979	241682979	A	G	1:g.241682979A>G	-
NM_000143.4(FH):c.43G>T (p.Val15Leu)	2271	FH	Uncertain significance	rs1463008959	RCV001022429\|RCV001066376;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682980	241682980	C	A	1:g.241682980C>A	-
NM_000143.4(FH):c.42C>A (p.Leu14=)	2271	FH	Uncertain significance	rs1660322230	RCV001068742;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682981	241682981	G	T	1:g.241682981G>T	-
NM_000143.4(FH):c.42C>T (p.Leu14=)	2271	FH	Likely benign	-1	RCV001439586;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682981	241682981	G	A	241682981	-
NM_000143.4(FH):c.40dup (p.Leu14fs)	2271	FH	Conflicting interpretations of pathogenicity	rs1060500900	RCV000466852\|RCV000493321\|RCV001556671;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241682982	241682983	A	AG	NC_000001.10:g.241682986dup	ClinGen:CA16610047	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.41T>C (p.Leu14Pro)	2271	FH	Uncertain significance	rs1553342163	RCV000635314;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682982	241682982	A	G	1:g.241682982A>G	ClinGen:CA345442977	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.40C>T (p.Leu14Phe)	2271	FH	Uncertain significance	rs981562354	RCV000635308;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682983	241682983	G	A	1:g.241682983G>A	ClinGen:CA40338036	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.39C>T (p.Pro13=)	2271	FH	Likely benign	rs1060504077	RCV000464689\|RCV001496608;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682984	241682984	G	A	NC_000001.10:g.241682984G>A	ClinGen:CA16610048	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.39C>A (p.Pro13=)	2271	FH	Likely benign	-1	RCV001415363;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682984	241682984	G	T	241682984	-
NM_000143.4(FH):c.39C>G (p.Pro13=)	2271	FH	Likely benign	-1	RCV002101060;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682984	241682984	G	C	241682984	-
NM_000143.4(FH):c.37C>T (p.Pro13Ser)	2271	FH	Uncertain significance	rs587778360	RCV000217403\|RCV001215487;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682986	241682986	G	A	1:g.241682986G>A	ClinGen:CA10577692	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.37C>A (p.Pro13Thr)	2271	FH	Uncertain significance	rs587778360	RCV000808009;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682986	241682986	G	T	1:g.241682986G>T	-
NM_000143.4(FH):c.36T>A (p.Arg12=)	2271	FH	Likely benign	-1	RCV002144676;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682987	241682987	A	T	241682987	-
NM_000143.4(FH):c.35G>T (p.Arg12Leu)	2271	FH	Uncertain significance	rs367826177	RCV000700942\|RCV001020691\|RCV001771986;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241682988	241682988	C	A	NC_000001.10:g.241682988C>A	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.35G>A (p.Arg12His)	2271	FH	Uncertain significance	-1	RCV001917742;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682988	241682988	C	T	241682988	-
NM_000143.4(FH):c.34C>T (p.Arg12Cys)	2271	FH	Uncertain significance	rs199912971	RCV001040233;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682989	241682989	G	A	1:g.241682989G>A	-
NM_000143.4(FH):c.34C>G (p.Arg12Gly)	2271	FH	Uncertain significance	-1	RCV002027691;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682989	241682989	G	C	241682989	-
NM_000143.4(FH):c.34C>A (p.Arg12Ser)	2271	FH	Uncertain significance	-1	RCV002003194;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682989	241682989	G	T	241682989	-
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.33G>A (p.Ser11=)	2271	FH	Likely benign	rs200542051	RCV000635329;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682990	241682990	C	T	1:g.241682990C>T	ClinGen:CA1478784	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.33G>T (p.Ser11=)	2271	FH	Likely benign	-1	RCV001395465;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682990	241682990	C	A	241682990	-
NM_000143.4(FH):c.32C>T (p.Ser11Leu)	2271	FH	Uncertain significance	-1	RCV001907166;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682991	241682991	G	A	241682991	-
NM_000143.4(FH):c.31T>C (p.Ser11Pro)	2271	FH	Uncertain significance	-1	RCV001950203;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682992	241682992	A	G	241682992	-
NM_000143.4(FH):c.29_30del (p.Arg10fs)	2271	FH	Pathogenic	-1	RCV002037848;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241682993	241682994	AGC	A	241682992	-
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.27G>A (p.Ala9=)	2271	FH	Likely benign	rs983362570	RCV000542369\|RCV000564339;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241682996	241682996	C	T	1:g.241682996C>T	ClinGen:CA40338095	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.26C>G (p.Ala9Gly)	2271	FH	Uncertain significance	rs766915154	RCV000562796\|RCV000635299\|RCV001764682;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241682997	241682997	G	C	1:g.241682997G>C	ClinGen:CA40338096	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.22C>G (p.Leu8Val)	2271	FH	Uncertain significance	rs1660323820	RCV001230275;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683001	241683001	G	C	1:g.241683001G>C	-
NM_000143.4(FH):c.21C>T (p.Leu7=)	2271	FH	Likely benign	rs1263147931	RCV000876574\|RCV001274351;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683002	241683002	G	A	1:g.241683002G>A	-
NM_000143.4(FH):c.21C>G (p.Leu7=)	2271	FH	Likely benign	-1	RCV001393419;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683002	241683002	G	C	241683002	-
NM_000143.4(FH):c.16C>T (p.Arg6Trp)	2271	FH	Uncertain significance	-1	RCV001961260;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683007	241683007	G	A	241683007	-
NM_000143.4(FH):c.15T>G (p.Leu5=)	2271	FH	Likely benign	-1	RCV001391973;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683008	241683008	A	C	241683008	-
NM_000143.4(FH):c.14T>C (p.Leu5Pro)	2271	FH	Uncertain significance	rs200099371	RCV000688862;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683009	241683009	A	G	NC_000001.10:g.241683009A>G	-	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.13C>G (p.Leu5Val)	2271	FH	Uncertain significance	rs1553342165	RCV001233717;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683010	241683010	G	C	1:g.241683010G>C	-
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.12A>T (p.Ala4=)	2271	FH	Likely benign	-1	RCV001455574;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683011	241683011	T	A	241683011	-
NM_000143.4(FH):c.11C>A (p.Ala4Glu)	2271	FH	Uncertain significance	rs1252151546	RCV001236738;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683012	241683012	G	T	1:g.241683012G>T	-
NM_000143.4(FH):c.10G>A (p.Ala4Thr)	2271	FH	Uncertain significance	rs1573890047	RCV000804394;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683013	241683013	C	T	1:g.241683013C>T	-
NM_000143.4(FH):c.7C>T (p.Arg3Ter)	2271	FH	Pathogenic	rs202166344	RCV000196918\|RCV001244044;	N	MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683016	241683016	G	A	1:g.241683016G>A	ClinGen:CA321335	CN517202 not provided;
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.6C>T (p.Tyr2=)	2271	FH	Benign/Likely benign	rs199971078	RCV000163845\|RCV000241727\|RCV000676940\|RCV001086286;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683017	241683017	G	A	1:g.241683017G>A	ClinGen:CA189328	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.6C>G (p.Tyr2Ter)	2271	FH	Conflicting interpretations of pathogenicity	rs199971078	RCV000559461\|RCV000572622;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	241683017	241683017	G	C	NC_000001.10:g.241683017G>C	ClinGen:CA40338139	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.5dup (p.Tyr2Ter)	2271	FH	Pathogenic	rs1573890070	RCV000797471;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683017	241683018	G	GT	1:g.241683017_241683018insT	-
NM_000143.4(FH):c.5A>G (p.Tyr2Cys)	2271	FH	Uncertain significance	rs1553342167	RCV000635288;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683018	241683018	T	C	1:g.241683018T>C	ClinGen:CA345443111	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.4T>C (p.Tyr2His)	2271	FH	Uncertain significance	rs112335468	RCV000537995\|RCV001023401\|RCV001662540;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	1	241683019	241683019	A	G	NC_000001.10:g.241683019A>G	ClinGen:CA1478785	C0342770 606812 Fumarase deficiency;
NM_000143.4(FH):c.4T>A (p.Tyr2Asn)	2271	FH	Uncertain significance	rs112335468	RCV001338216;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683019	241683019	A	T	241683019	-
NM_000143.4(FH):c.3G>A (p.Met1Ile)	2271	FH	Likely pathogenic	-1	RCV001378930;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683020	241683020	C	T	241683020	-
NM_000143.4(FH):c.3G>C (p.Met1Ile)	2271	FH	Likely pathogenic	-1	RCV002011105;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683020	241683020	C	G	241683020	-
NM_000143.4(FH):c.2T>G (p.Met1Arg)	2271	FH	Conflicting interpretations of pathogenicity	rs201261794	RCV000493638\|RCV001242068;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683021	241683021	A	C	NC_000001.10:g.241683021A>C	ClinGen:CA345443122	C0027672 Hereditary cancer-predisposing syndrome;
NM_000143.4(FH):c.2T>C (p.Met1Thr)	2271	FH	Conflicting interpretations of pathogenicity	rs201261794	RCV001017952\|RCV001038745;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683021	241683021	A	G	1:g.241683021A>G	-
NM_000143.4(FH):c.2T>A (p.Met1Lys)	2271	FH	Likely pathogenic	-1	RCV001378684;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683021	241683021	A	T	241683021	-
NM_000143.4(FH):c.1A>G (p.Met1Val)	2271	FH	Likely pathogenic	rs776806414	RCV000226429\|RCV000498198;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24\|MedGen:CN517202	1	241683022	241683022	T	C	1:g.241683022T>C	ClinGen:CA10581788	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.1A>T (p.Met1Leu)	2271	FH	Likely pathogenic	rs776806414	RCV000794812;	N	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812, Orphanet:24	1	241683022	241683022	T	A	1:g.241683022T>A	-
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	-

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