FH (fumarate hydratase) - Rat Genome Database

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Advanced Search (OLGA)
Gene: FH (fumarate hydratase) Homo sapiens
Analyze
Symbol: FH
Name: fumarate hydratase
RGD ID: 735599
HGNC Page HGNC:3700
Description: Enables fumarate hydratase activity and histone binding activity. Involved in DNA damage response; dicarboxylic acid metabolic process; and positive regulation of double-strand break repair via nonhomologous end joining. Located in several cellular components, including cytosol; mitochondrion; and site of double-strand break. Implicated in fumarase deficiency and lung non-small cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FMRD; fumarase; fumarate hydratase 1; fumarate hydratase, mitochondrial; HLRCC; HsFH; LRCC; MCL; MCUL1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: FHP1   FHP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381241,497,603 - 241,519,755 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1241,497,511 - 241,519,799 (-)Ensemblhg38GRCh38
GRCh371241,660,903 - 241,683,055 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,727,526 - 239,749,677 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341237,986,946 - 238,009,095NCBI
Celera1214,915,854 - 214,938,092 (-)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1212,119,119 - 212,141,338 (-)NCBIHuRef
CHM1_11242,933,564 - 242,955,781 (-)NCBICHM1_1
T2T-CHM13v2.01240,909,033 - 240,931,170 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
(R)-adrenaline  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dimethoxyphenol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
7H-xanthine  (ISO)
8-Epidiosbulbin E acetate  (ISO)
9H-xanthine  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
aluminium atom  (EXP)
aluminium(0)  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
beta-lapachone  (EXP)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
Brodifacoum  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
citalopram  (ISO)
clofibrate  (ISO)
clomipramine  (ISO)
cobalt dichloride  (EXP)
cocaine  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
epoxiconazole  (ISO)
erastin  (EXP)
ethyl methanesulfonate  (EXP)
fipronil  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furfural  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP,ISO)
inulin  (ISO)
irinotecan  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
lamivudine  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
Macrosphelide A  (EXP)
methapyrilene  (ISO)
methidathion  (ISO)
methotrexate  (ISO)
methylmercury chloride  (EXP)
morphine  (ISO)
nitrates  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
olaparib  (EXP)
ouabain  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (EXP)
phlorizin  (ISO)
pinosylvin  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium chloride  (EXP)
streptozocin  (ISO)
sulfasalazine  (ISO)
sunitinib  (EXP)
talazoparib  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trans-pinosylvin  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IEA)
cytoplasm  (IDA,IEA,TAS)
cytosol  (IDA,IEA)
extracellular exosome  (HDA)
mitochondrial matrix  (ISO,TAS)
mitochondrion  (HDA,HTP,IBA,IDA,IEA,TAS)
nucleus  (IDA,IEA)
site of double-strand break  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal speech pattern  (IAGP)
Abnormality of the musculature  (IAGP)
Adrenal pheochromocytoma  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aminoaciduria  (IAGP)
Aniridia  (IAGP)
Anteverted nares  (IAGP)
Arachnoid hemangiomatosis  (IAGP)
Ascites  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Barrett esophagus  (IAGP)
Bilateral fetal pyelectasis  (IAGP)
Breast carcinoma  (IAGP)
Cataract  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral hemorrhage  (IAGP)
Chest pain  (IAGP)
Choroid plexus cyst  (IAGP)
Conductive hearing impairment  (IAGP)
Congestive heart failure  (IAGP)
Conjunctival icterus  (IAGP)
Cranial nerve compression  (IAGP)
Cutaneous leiomyoma  (IAGP)
Cutaneous leiomyosarcoma  (IAGP)
Decreased fumarate hydratase activity  (IAGP)
Depressed nasal bridge  (IAGP)
Dysphonia  (IAGP)
Elevated circulating calcitonin concentration  (IAGP)
Elevated urinary dopamine level  (IAGP)
Elevated urinary epinephrine level  (IAGP)
Elevated urinary norepinephrine level  (IAGP)
Elevated urine fumaric acid level  (IAGP)
Episodic abdominal pain  (IAGP)
Episodic hyperhidrosis  (IAGP)
Episodic paroxysmal anxiety  (IAGP)
Esophageal neoplasm  (IAGP)
Extraadrenal pheochromocytoma  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Flushing  (IAGP)
Frontal bossing  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Glomerular sclerosis  (IAGP)
Hematuria  (IAGP)
Hepatic failure  (IAGP)
Hepatoblastoma  (IAGP)
Hepatocellular carcinoma  (IAGP)
High palate  (IAGP)
Hyperbilirubinemia  (IAGP)
Hypercalcemia  (IAGP)
Hypertelorism  (IAGP)
Hypertension associated with pheochromocytoma  (IAGP)
Hypertensive retinopathy  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypotonia  (IAGP)
Increased urine succinate level  (IAGP)
Intellectual disability, profound  (IAGP)
Intrahepatic cholestasis  (IAGP)
Lactic acidosis  (IAGP)
Lissencephaly  (IAGP)
Metabolic acidosis  (IAGP)
Microcephaly  (IAGP)
Mitochondrial swelling  (IAGP)
Multiple cutaneous leiomyomas  (IAGP)
Nausea  (IAGP)
Necrotizing enterocolitis  (IAGP)
Non-small cell lung carcinoma  (IAGP)
Open operculum  (IAGP)
Optic atrophy  (IAGP)
Ovarian neoplasm  (IAGP)
Pallor  (IAGP)
Palpitations  (IAGP)
Panic attack  (IAGP)
Papillary renal cell carcinoma type 2  (IAGP)
Paraganglioma  (IAGP)
Paraganglioma of head and neck  (IAGP)
Parathyroid carcinoma  (IAGP)
Paroxysmal vertigo  (IAGP)
Perimembranous ventricular septal defect  (IAGP)
Polycythemia  (IAGP)
Polyhydramnios  (IAGP)
Polymicrogyria  (IAGP)
Positive regitine blocking test  (IAGP)
Proteinuria  (IAGP)
Pruritus  (IAGP)
Pulsatile tinnitus  (IAGP)
Recurrent paroxysmal headache  (IAGP)
Reduced subcutaneous adipose tissue  (IAGP)
Relative macrocephaly  (IAGP)
Renal cell carcinoma  (IAGP)
Retinal capillary hemangioma  (IAGP)
Second trimester onset  (IAGP)
Sinus tachycardia  (IAGP)
Status epilepticus  (IAGP)
Tremor  (IAGP)
Typified by incomplete penetrance  (IAGP)
Uterine leiomyoma  (IAGP)
Uterine leiomyosarcoma  (IAGP)
Vaginal neoplasm  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Vocal cord paralysis  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Genetic variants in genes of tricarboxylic acid cycle key enzymes are associated with prognosis of patients with non-small cell lung cancer. Guo X, etal., Lung Cancer. 2015 Feb;87(2):162-8. doi: 10.1016/j.lungcan.2014.12.005. Epub 2014 Dec 18.
3. Preparation and properties of mitochondria derived from synaptosomes. Lai JC and Clark JB, Biochem J. 1976 Feb 15;154(2):423-32.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. HIF and fumarate hydratase in renal cancer. Sudarshan S, etal., Br J Cancer. 2007 Feb 12;96(3):403-7. Epub 2007 Jan 9.
11. Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. Wei MH, etal., J Med Genet. 2006 Jan;43(1):18-27. Epub 2005 Jun 3.
12. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:434773   PMID:975868   PMID:2759092   PMID:3828494   PMID:4018793   PMID:8200987   PMID:9635293   PMID:11865300   PMID:12021453   PMID:12177782   PMID:12477932   PMID:12612654  
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PMID:18728283   PMID:18986479   PMID:19064571   PMID:19075141   PMID:19151755   PMID:19276158   PMID:19470762   PMID:19546378   PMID:19626040   PMID:19963135   PMID:20231875   PMID:20301430  
PMID:20301679   PMID:20458337   PMID:20549362   PMID:20618355   PMID:20660115   PMID:20677014   PMID:20833797   PMID:20877624   PMID:21319273   PMID:21398687   PMID:21445611   PMID:21560188  
PMID:21565611   PMID:21695080   PMID:21873635   PMID:21907923   PMID:22304920   PMID:22528940   PMID:22586326   PMID:22677546   PMID:22713448   PMID:22764886   PMID:22863883   PMID:22939629  
PMID:23295344   PMID:23376485   PMID:23874603   PMID:24182348   PMID:24334767   PMID:24684806   PMID:24729973   PMID:25004247   PMID:25416956   PMID:25923021   PMID:26113603   PMID:26237645  
PMID:26275867   PMID:26344197   PMID:26377099   PMID:26457356   PMID:26493120   PMID:26574848   PMID:26638075   PMID:26871637   PMID:27037871   PMID:27097334   PMID:27107014   PMID:27161211  
PMID:27302170   PMID:27453043   PMID:27454940   PMID:27528759   PMID:27554470   PMID:27566483   PMID:27684187   PMID:28186131   PMID:28196407   PMID:28260082   PMID:28288038   PMID:28289076  
PMID:28300276   PMID:28524877   PMID:28620008   PMID:28628081   PMID:28700432   PMID:28703412   PMID:28747166   PMID:28863073   PMID:29456767   PMID:29615496   PMID:29790226   PMID:29917289  
PMID:30021884   PMID:30033366   PMID:30097533   PMID:30339328   PMID:30463901   PMID:30575818   PMID:30718813   PMID:30761759   PMID:30807637   PMID:30884312   PMID:30948266   PMID:31081789  
PMID:31091453   PMID:31235845   PMID:31262952   PMID:31444830   PMID:31471882   PMID:31536960   PMID:31564060   PMID:31746132   PMID:31773923   PMID:31792767   PMID:31804603   PMID:31963199  
PMID:32294661   PMID:32296183   PMID:32413160   PMID:32413184   PMID:32463173   PMID:32612247   PMID:32687490   PMID:32963011   PMID:32994395   PMID:33067418   PMID:33402335   PMID:33414138  
PMID:33618749   PMID:33762435   PMID:33845483   PMID:33961781   PMID:34349018   PMID:34360727   PMID:34373451   PMID:34724198   PMID:34728620   PMID:34800366   PMID:34889279   PMID:34994643  
PMID:35012549   PMID:35032548   PMID:35048731   PMID:35163394   PMID:35253629   PMID:35256949   PMID:35288096   PMID:35509820   PMID:35559673   PMID:35776542   PMID:35821608   PMID:35944360  
PMID:36215168   PMID:36225252   PMID:36495298   PMID:36517590   PMID:36773955   PMID:36866961   PMID:36890227   PMID:36898370   PMID:36981015   PMID:37223481   PMID:37255402   PMID:37312573  
PMID:37316640   PMID:37561409   PMID:37609425   PMID:37827155   PMID:38334954   PMID:38481055   PMID:38793008   PMID:39147351   PMID:39251607   PMID:40437099  


Genomics

Comparative Map Data
FH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381241,497,603 - 241,519,755 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1241,497,511 - 241,519,799 (-)Ensemblhg38GRCh38
GRCh371241,660,903 - 241,683,055 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,727,526 - 239,749,677 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341237,986,946 - 238,009,095NCBI
Celera1214,915,854 - 214,938,092 (-)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1212,119,119 - 212,141,338 (-)NCBIHuRef
CHM1_11242,933,564 - 242,955,781 (-)NCBICHM1_1
T2T-CHM13v2.01240,909,033 - 240,931,170 (-)NCBIT2T-CHM13v2.0
Fh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391175,428,944 - 175,453,201 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1175,427,940 - 175,453,201 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381175,601,378 - 175,625,635 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1175,600,374 - 175,625,635 (-)Ensemblmm10GRCm38
MGSCv371177,531,509 - 177,555,766 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361177,438,053 - 177,462,253 (-)NCBIMGSCv36mm8
Celera1182,687,061 - 182,711,324 (-)NCBICelera
Cytogenetic Map1H3NCBI
cM Map181.58NCBI
Fh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81390,056,565 - 90,082,450 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1390,056,570 - 90,089,627 (-)EnsemblGRCr8
mRatBN7.21387,524,331 - 87,550,215 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1387,524,337 - 87,550,266 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1390,024,127 - 90,050,089 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01391,424,397 - 91,450,349 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01388,603,544 - 88,629,509 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01393,651,486 - 93,677,371 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1393,651,484 - 93,677,377 (-)Ensemblrn6Rnor6.0
Rnor_5.01398,116,496 - 98,142,636 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41391,329,837 - 91,355,722 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1387,123,119 - 87,148,786 (-)NCBICelera
RGSC_v3.11391,518,725 - 91,544,617 (-)NCBI
Cytogenetic Map13q24NCBI
Fh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540610,535,323 - 10,561,627 (+)Ensembl
ChiLan1.0NW_00495540610,535,801 - 10,558,649 (+)NCBIChiLan1.0ChiLan1.0
FH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v217,627,088 - 7,649,060 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan117,851,062 - 7,873,025 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01217,059,847 - 217,081,795 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11222,041,142 - 222,063,271 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1222,041,142 - 222,064,212 (-)EnsemblpanPan2panpan1.1
FH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1732,900,250 - 32,927,436 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl732,901,586 - 32,927,412 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha732,378,016 - 32,404,992 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0732,726,854 - 32,753,856 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl732,726,854 - 32,753,869 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1732,562,040 - 32,588,973 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0732,586,108 - 32,613,094 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0732,834,235 - 32,861,236 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Fh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934445,782,142 - 45,811,186 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365268,935,991 - 8,965,367 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365268,936,096 - 8,965,155 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1012,404,176 - 12,431,824 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11012,404,143 - 12,431,843 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21014,852,719 - 14,879,014 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12578,576,931 - 78,599,998 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2578,575,300 - 78,599,972 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605580,709,772 - 80,732,613 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477111,856,884 - 11,887,066 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462477111,861,537 - 11,886,154 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in FH
1999 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000143.4(FH):c.214A>C (p.Thr72Pro) single nucleotide variant Fumarase deficiency [RCV001062945]|Hereditary cancer-predisposing syndrome [RCV002429193]|not provided [RCV000254803] Chr1:241517235 [GRCh38]
Chr1:241680535 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.49G>C (p.Ala17Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563316]|not provided [RCV002528981] Chr1:241519674 [GRCh38]
Chr1:241682974 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1077T>A (p.Pro359=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562083]|Hereditary leiomyomatosis and renal cell cancer [RCV005248171]|not provided [RCV001312139] Chr1:241504073 [GRCh38]
Chr1:241667373 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.228G>A (p.Thr76=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456084]|Hereditary leiomyomatosis and renal cell cancer [RCV005248174]|not provided [RCV002527725] Chr1:241517221 [GRCh38]
Chr1:241680521 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.911C>G (p.Pro304Arg) single nucleotide variant Fumarase deficiency [RCV000525503]|Hereditary cancer-predisposing syndrome [RCV002377041]|Hereditary leiomyomatosis and renal cell cancer [RCV004787853]|not provided [RCV001545353] Chr1:241504239 [GRCh38]
Chr1:241667539 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.26C>G (p.Ala9Gly) single nucleotide variant Fumarase deficiency [RCV000635299]|Hereditary cancer-predisposing syndrome [RCV000562796]|not provided [RCV001764682] Chr1:241519697 [GRCh38]
Chr1:241682997 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NC_000001.11:g.(?_241505997)_(241506174_?)del deletion Fumarase deficiency [RCV000551893] Chr1:241505997..241506174 [GRCh38]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.583A>G (p.Met195Val) single nucleotide variant Fumarase deficiency [RCV004800449]|Hereditary cancer-predisposing syndrome [RCV002358480]|not provided [RCV002527733] Chr1:241508758 [GRCh38]
Chr1:241672058 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.722C>T (p.Pro241Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563559]|not provided [RCV002528978]|not specified [RCV002465724] Chr1:241508619 [GRCh38]
Chr1:241671919 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1292C>T (p.Thr431Ile) single nucleotide variant Fumarase deficiency [RCV000543314]|Hereditary cancer-predisposing syndrome [RCV001010798]|Hereditary leiomyomatosis and renal cell cancer [RCV001098856]|not provided [RCV002527719] Chr1:241500535 [GRCh38]
Chr1:241663835 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.237dup (p.Lys80Ter) duplication Hereditary cancer-predisposing syndrome [RCV000567476]|not provided [RCV002526809] Chr1:241517211..241517212 [GRCh38]
Chr1:241680511..241680512 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer) deletion Hereditary leiomyomatosis and renal cell cancer [RCV003139736]|not provided [RCV000522295] Chr1:241506097..241506098 [GRCh38]
Chr1:241669397..241669398 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.805A>G (p.Ile269Val) single nucleotide variant Fumarase deficiency [RCV001241084]|Hereditary cancer-predisposing syndrome [RCV000569054]|Hereditary leiomyomatosis and renal cell cancer [RCV001554283]|not provided [RCV002530240] Chr1:241506102 [GRCh38]
Chr1:241669402 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.521C>G (p.Pro174Arg) single nucleotide variant FH-related disorder [RCV003335052]|Fumarase deficiency [RCV000022554]|Fumarase deficiency [RCV003483435]|Hereditary cancer-predisposing syndrome [RCV000492836]|not provided [RCV000078149] Chr1:241512001 [GRCh38]
Chr1:241675301 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|no classifications from unflagged records|not provided
NC_000001.11:g.(?_241497603..241519755_?)del deletion Fumarase deficiency [RCV000022555] Chr1:1q42.1 pathogenic
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) single nucleotide variant Fumarase deficiency [RCV000034920]|Fumarase deficiency [RCV004595492]|Hepatocellular carcinoma [RCV002280864]|Hereditary cancer-predisposing syndrome [RCV000163798]|not provided [RCV000199873] Chr1:241502552 [GRCh38]
Chr1:241665852 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) duplication FH-related disorder [RCV004555534]|Fumarase deficiency [RCV000034921]|Fumarase deficiency [RCV005007937]|Hereditary cancer-predisposing syndrome [RCV000164180]|Hereditary leiomyomatosis and renal cell cancer [RCV001762110]|not provided [RCV000034483]|not specified [RCV001000649] Chr1:241497927..241497928 [GRCh38]
Chr1:241661227..241661228 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.793G>A (p.Ala265Thr) single nucleotide variant Fumarase deficiency [RCV000017617] Chr1:241506114 [GRCh38]
Chr1:241669414 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1084G>C (p.Glu362Gln) single nucleotide variant Fumarase deficiency [RCV000017618]|Hereditary cancer-predisposing syndrome [RCV002426509] Chr1:241504066 [GRCh38]
Chr1:241667366 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.301C>T (p.Arg101Ter) single nucleotide variant Fumarase deficiency [RCV000515176]|Hereditary cancer-predisposing syndrome [RCV000130873]|Hereditary leiomyomatosis and renal cell cancer [RCV000017619]|not provided [RCV000199330] Chr1:241513680 [GRCh38]
Chr1:241676980 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.320A>C (p.Asn107Thr) single nucleotide variant Fumarase deficiency [RCV005016360]|Fumarase deficiency [RCV005237520]|Hereditary cancer-predisposing syndrome [RCV000493777]|Hereditary leiomyomatosis and renal cell cancer [RCV000017620]|not provided [RCV000078148] Chr1:241513661 [GRCh38]
Chr1:241676961 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.671_672del (p.Glu224fs) microsatellite Hereditary leiomyomatosis and renal cell cancer [RCV000017621]|not provided [RCV002513083] Chr1:241508669..241508670 [GRCh38]
Chr1:241671969..241671970 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1027C>T (p.Arg343Ter) single nucleotide variant Fumarase deficiency [RCV003466863]|Fumarase deficiency [RCV005007862]|Hereditary cancer-predisposing syndrome [RCV000130875]|Hereditary leiomyomatosis and renal cell cancer [RCV000017622]|not provided [RCV000197989] Chr1:241504123 [GRCh38]
Chr1:241667423 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.698G>A (p.Arg233His) single nucleotide variant Fumarase deficiency [RCV000178717]|Fumarase deficiency [RCV003330393]|Hereditary cancer-predisposing syndrome [RCV000493379]|Hereditary leiomyomatosis and renal cell cancer [RCV000017623]|See cases [RCV003128387]|Spinocerebellar ataxia 45 [RCV004541007]|not provided [RCV000196988] Chr1:241508643 [GRCh38]
Chr1:241671943 [GRCh37]
Chr1:1q43		 pathogenic|not provided
NM_000143.4(FH):c.698G>T (p.Arg233Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362588]|Hereditary leiomyomatosis and renal cell cancer [RCV000017624]|not provided [RCV001781272] Chr1:241508643 [GRCh38]
Chr1:241671943 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000143.4(FH):c.302G>C (p.Arg101Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433458]|Hereditary leiomyomatosis and renal cell cancer [RCV000017625]|not provided [RCV000489422] Chr1:241513679 [GRCh38]
Chr1:241676979 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.*14A>G single nucleotide variant not specified [RCV003321077] Chr1:241497814 [GRCh38]
Chr1:241661114 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-50TC[14] microsatellite not specified [RCV003321082] Chr1:241500603..241500612 [GRCh38]
Chr1:241663903..241663912 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1390+17T>C single nucleotide variant not specified [RCV003321080] Chr1:241500420 [GRCh38]
Chr1:241663720 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-12_1237-11del deletion not specified [RCV003321081] Chr1:241500601..241500602 [GRCh38]
Chr1:241663901..241663902 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1045C>G (p.Pro349Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563710] Chr1:241504105 [GRCh38]
Chr1:241667405 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.555+3del deletion Hereditary cancer-predisposing syndrome [RCV004023830]|not provided [RCV002527732] Chr1:241511964 [GRCh38]
Chr1:241675264 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.957C>T (p.Asp319=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567373]|Hereditary leiomyomatosis and renal cell cancer [RCV005248185]|not provided [RCV001534097] Chr1:241504193 [GRCh38]
Chr1:241667493 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1003C>T (p.Leu335=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566616]|not provided [RCV002528979]|not specified [RCV005231103] Chr1:241504147 [GRCh38]
Chr1:241667447 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.6C>G (p.Tyr2Ter) single nucleotide variant Fumarase deficiency [RCV004568765]|Hereditary cancer-predisposing syndrome [RCV000572622]|not provided [RCV002461294] Chr1:241519717 [GRCh38]
Chr1:241683017 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.1471T>C (p.Tyr491His) single nucleotide variant Fumarase deficiency [RCV000528987]|Hereditary cancer-predisposing syndrome [RCV002395335]|not provided [RCV001811037] Chr1:241497890 [GRCh38]
Chr1:241661190 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.13C>T (p.Leu5Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566793]|not provided [RCV004777751] Chr1:241519710 [GRCh38]
Chr1:241683010 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.692T>C (p.Ile231Thr) single nucleotide variant Fumarase deficiency [RCV000804121]|Hereditary cancer-predisposing syndrome [RCV000562550]|not provided [RCV001770522] Chr1:241508649 [GRCh38]
Chr1:241671949 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.403C>T (p.His135Tyr) single nucleotide variant not provided [RCV000521844] Chr1:241512119 [GRCh38]
Chr1:241675419 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.379-1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380603]|not provided [RCV001783039] Chr1:241512144 [GRCh38]
Chr1:241675444 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.540T>C (p.His180=) single nucleotide variant FH-related disorder [RCV004555585]|Hereditary cancer-predisposing syndrome [RCV001024060]|Hereditary leiomyomatosis and renal cell cancer [RCV005248179]|not provided [RCV001567578] Chr1:241511982 [GRCh38]
Chr1:241675282 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.989C>G (p.Thr330Ser) single nucleotide variant not provided [RCV002527739] Chr1:241504161 [GRCh38]
Chr1:241667461 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1472A>G (p.Tyr491Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565062]|not provided [RCV002528983] Chr1:241497889 [GRCh38]
Chr1:241661189 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.306G>A (p.Ala102=) single nucleotide variant FH-related disorder [RCV004555583]|Hereditary cancer-predisposing syndrome [RCV000571296]|Hereditary leiomyomatosis and renal cell cancer [RCV005248176]|not provided [RCV001704667] Chr1:241513675 [GRCh38]
Chr1:241676975 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.3(FH):c.1433_1434insAAA (p.Lys477_Asn478insLys) insertion not provided [RCV000034483] Chr1:241497927..241497928 [GRCh38]
Chr1:241661227..241661228 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.346A>T (p.Ile116Phe) single nucleotide variant FH-related disorder [RCV004734539]|Fumarase deficiency [RCV000463959]|Hereditary cancer-predisposing syndrome [RCV000575301]|Hereditary leiomyomatosis and renal cell cancer [RCV001101031]|not provided [RCV000034484] Chr1:241513635 [GRCh38]
Chr1:241676935 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.883G>A (p.Ala295Thr) single nucleotide variant Fumarase deficiency [RCV000687788]|Hereditary cancer-predisposing syndrome [RCV000166620]|Hereditary leiomyomatosis and renal cell cancer [RCV004786292]|not provided [RCV000034485]|not specified [RCV000121091] Chr1:241506024 [GRCh38]
Chr1:241669324 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000143.4(FH):c.908T>C (p.Leu303Ser) single nucleotide variant Fumarase deficiency [RCV000471678]|Hereditary cancer-predisposing syndrome [RCV000568576]|not provided [RCV000034486]|not specified [RCV004767031] Chr1:241504242 [GRCh38]
Chr1:241667542 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) single nucleotide variant FH-related disorder [RCV004555533]|Fumarase deficiency [RCV000332300]|Hereditary cancer-predisposing syndrome [RCV001011508]|Hereditary leiomyomatosis and renal cell cancer [RCV000381370]|not provided [RCV000034487] Chr1:241497940 [GRCh38]
Chr1:241661240 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q43(chr1:239631841-242609012)x3 copy number gain See cases [RCV000051587] Chr1:239631841..242609012 [GRCh38]
Chr1:239795141..242772314 [GRCh37]
Chr1:237861764..240838937 [NCBI36]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q43(chr1:240553438-242475553)x3 copy number gain See cases [RCV000051588] Chr1:240553438..242475553 [GRCh38]
Chr1:240716738..242638855 [GRCh37]
Chr1:238783361..240705478 [NCBI36]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q43(chr1:241358731-241676967)x3 copy number gain See cases [RCV000051589] Chr1:241358731..241676967 [GRCh38]
Chr1:241522031..241840269 [GRCh37]
Chr1:239588654..239906892 [NCBI36]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44		 pathogenic
NM_000143.3(FH):c.1433_1434insAAA (p.Lys477_Asn478insLys) insertion Fumarase deficiency [RCV000173645] Chr1:241497927..241497928 [GRCh38]
Chr1:241661227..241661228 [GRCh37]
Chr1:1q43		 pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1 copy number loss See cases [RCV000053990] Chr1:237906379..244022201 [GRCh38]
Chr1:238069679..244185503 [GRCh37]
Chr1:236136302..242252126 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 copy number loss See cases [RCV000054025] Chr1:241047422..248924593 [GRCh38]
Chr1:241210722..249218792 [GRCh37]
Chr1:239277345..247185415 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1 copy number loss See cases [RCV000054026] Chr1:241459440..247704671 [GRCh38]
Chr1:241622740..247867973 [GRCh37]
Chr1:239689363..245934596 [NCBI36]
Chr1:1q43-44		 pathogenic
NM_000143.4(FH):c.881C>T (p.Ala294Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257117] Chr1:241506026 [GRCh38]
Chr1:241669326 [GRCh37]
Chr1:239735949 [NCBI36]
Chr1:1q43		 uncertain significance|not provided
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) single nucleotide variant FH-related disorder [RCV004555535]|Fumarase deficiency [RCV003460741]|Fumarase deficiency [RCV005007992]|Hereditary cancer-predisposing syndrome [RCV000220396]|Hereditary leiomyomatosis and renal cell cancer [RCV000445596]|not provided [RCV000078140] Chr1:241504130 [GRCh38]
Chr1:241667430 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1126C>T (p.Gln376Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444546]|Hereditary leiomyomatosis and renal cell cancer [RCV000445587]|not provided [RCV000078141] Chr1:241502553 [GRCh38]
Chr1:241665853 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1129T>C (p.Cys377Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321568]|not provided [RCV000078142] Chr1:241502550 [GRCh38]
Chr1:241665850 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.1200del (p.Asn400fs) deletion not provided [RCV000078143] Chr1:241502479 [GRCh38]
Chr1:241665779 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) single nucleotide variant FH-related disorder [RCV004555536]|Fumarase deficiency [RCV005394337]|Hereditary cancer-predisposing syndrome [RCV000492881]|Hereditary leiomyomatosis and renal cell cancer [RCV000445624]|not provided [RCV000078144] Chr1:241500572 [GRCh38]
Chr1:241663872 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000143.4(FH):c.1293del (p.Glu432fs) deletion Fumarase deficiency [RCV000461548]|Hereditary cancer-predisposing syndrome [RCV000493624]|Hereditary leiomyomatosis and renal cell cancer [RCV000445588]|not provided [RCV000078145] Chr1:241500534 [GRCh38]
Chr1:241663834 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000492797]|Hereditary leiomyomatosis and renal cell cancer [RCV003315601]|not provided [RCV000078146] Chr1:241500526 [GRCh38]
Chr1:241663826 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1446_1449del (p.Glu484fs) deletion not provided [RCV000078147] Chr1:241497912..241497915 [GRCh38]
Chr1:241661212..241661215 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.560C>G (p.Ser187Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024322]|Hereditary leiomyomatosis and renal cell cancer [RCV000445585]|not provided [RCV000078150] Chr1:241508781 [GRCh38]
Chr1:241672081 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.760C>T (p.Gln254Ter) single nucleotide variant not provided [RCV000078151] Chr1:241506147 [GRCh38]
Chr1:241669447 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.952C>T (p.His318Tyr) single nucleotide variant Fumarase deficiency [RCV000762893]|Fumarase deficiency [RCV003460742]|Hereditary cancer-predisposing syndrome [RCV002371923]|Hereditary leiomyomatosis and renal cell cancer [RCV000445608]|not provided [RCV000078152] Chr1:241504198 [GRCh38]
Chr1:241667498 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000143.4(FH):c.927G>A (p.Pro309=) single nucleotide variant Fumarase deficiency [RCV000382481]|Fumarase deficiency [RCV005394459]|Hereditary cancer-predisposing syndrome [RCV000131065]|Hereditary leiomyomatosis and renal cell cancer [RCV000346503]|not provided [RCV000589837]|not specified [RCV000179718] Chr1:241504223 [GRCh38]
Chr1:241667523 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.37C>G (p.Pro13Ala) single nucleotide variant Fumarase deficiency [RCV005008023]|Hereditary cancer-predisposing syndrome [RCV002354305]|not provided [RCV002514640]|not specified [RCV000121087] Chr1:241519686 [GRCh38]
Chr1:241682986 [GRCh37]
Chr1:1q43		 uncertain significance|not provided
NM_000143.4(FH):c.53C>T (p.Pro18Leu) single nucleotide variant Fumarase deficiency [RCV000273634]|Fumarase deficiency [RCV002498563]|Hereditary cancer-predisposing syndrome [RCV000493989]|Hereditary leiomyomatosis and renal cell cancer [RCV000331003]|not provided [RCV000756164]|not specified [RCV000121088] Chr1:241519670 [GRCh38]
Chr1:241682970 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000143.4(FH):c.71C>G (p.Ser24Trp) single nucleotide variant not specified [RCV000121089] Chr1:241519652 [GRCh38]
Chr1:241682952 [GRCh37]
Chr1:1q43		 not provided
NM_000143.4(FH):c.77C>T (p.Pro26Leu) single nucleotide variant Fumarase deficiency [RCV000227292]|Fumarase deficiency [RCV002483216]|Hereditary cancer-predisposing syndrome [RCV000570367]|Hereditary leiomyomatosis and renal cell cancer [RCV000392281]|not provided [RCV002515870]|not specified [RCV000121090] Chr1:241519646 [GRCh38]
Chr1:241682946 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000143.4(FH):c.1013T>C (p.Ile338Thr) single nucleotide variant Fumarase deficiency [RCV001061733]|Fumarase deficiency [RCV005394417]|Hereditary cancer-predisposing syndrome [RCV000575122]|not provided [RCV001558721]|not specified [RCV000121092] Chr1:241504137 [GRCh38]
Chr1:241667437 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance|not provided
NM_000143.4(FH):c.1138A>G (p.Met380Val) single nucleotide variant Fumarase deficiency [RCV000554866]|Hereditary cancer-predisposing syndrome [RCV000567053]|not provided [RCV002514641]|not specified [RCV000121093] Chr1:241502541 [GRCh38]
Chr1:241665841 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance|not provided
NM_000143.4(FH):c.1303G>A (p.Val435Met) single nucleotide variant FH-related disorder [RCV004555537]|Fumarase deficiency [RCV000473170]|Fumarase deficiency [RCV005016418]|Hereditary cancer-predisposing syndrome [RCV000571469]|Hereditary leiomyomatosis and renal cell cancer [RCV003325184]|not provided [RCV001564388]|not specified [RCV000121094] Chr1:241500524 [GRCh38]
Chr1:241663824 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000143.4(FH):c.1205A>G (p.His402Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347970]|not provided [RCV000255487] Chr1:241502474 [GRCh38]
Chr1:241665774 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 copy number loss See cases [RCV002292708] Chr1:233012994..249206918 [GRCh37]
Chr1:1q42.2-44		 pathogenic
NM_000143.4(FH):c.1414G>A (p.Ala472Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003340668]|not provided [RCV003224028] Chr1:241497947 [GRCh38]
Chr1:241661247 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1236+14C>T single nucleotide variant Fumarase deficiency [RCV000376619]|Fumarase deficiency [RCV002492466]|Hereditary cancer-predisposing syndrome [RCV002371961]|Hereditary leiomyomatosis and renal cell cancer [RCV000321851]|not provided [RCV000586848]|not specified [RCV000125103] Chr1:241502429 [GRCh38]
Chr1:241665729 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1302C>T (p.Cys434=) single nucleotide variant Fumarase deficiency [RCV000338010]|Fumarase deficiency [RCV005394460]|Hereditary cancer-predisposing syndrome [RCV000163275]|Hereditary leiomyomatosis and renal cell cancer [RCV000292482]|not provided [RCV000589909]|not specified [RCV000125104] Chr1:241500525 [GRCh38]
Chr1:241663825 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.309C>T (p.Ala103=) single nucleotide variant Fumarase deficiency [RCV000383130]|Fumarase deficiency [RCV005394461]|Hereditary cancer-predisposing syndrome [RCV000163273]|Hereditary leiomyomatosis and renal cell cancer [RCV000327050]|not provided [RCV000588869]|not specified [RCV000125106] Chr1:241513672 [GRCh38]
Chr1:241676972 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.556-1G>C single nucleotide variant not provided [RCV000178715] Chr1:241508786 [GRCh38]
Chr1:241672086 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.912_918del (p.Phe305fs) deletion Fumarase deficiency [RCV003462288]|Hereditary cancer-predisposing syndrome [RCV001018881]|Hereditary leiomyomatosis and renal cell cancer [RCV000179717]|not provided [RCV000199793] Chr1:241504232..241504238 [GRCh38]
Chr1:241667532..241667538 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.92C>A (p.Ala31Glu) single nucleotide variant not provided [RCV002539537] Chr1:241519631 [GRCh38]
Chr1:241682931 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.105G>A (p.Ser35=) single nucleotide variant Fumarase deficiency [RCV000230576]|Fumarase deficiency [RCV005394481]|Hereditary cancer-predisposing syndrome [RCV000130839]|Hereditary leiomyomatosis and renal cell cancer [RCV000400500]|not provided [RCV002514738]|not specified [RCV000422755] Chr1:241519618 [GRCh38]
Chr1:241682918 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000143.4(FH):c.208G>A (p.Ala70Thr) single nucleotide variant Fumarase deficiency [RCV000462728]|Hereditary cancer-predisposing syndrome [RCV000130874]|Hereditary leiomyomatosis and renal cell cancer [RCV004786393]|Ovarian cancer [RCV003153423]|not provided [RCV000200494] Chr1:241517241 [GRCh38]
Chr1:241680541 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.580G>A (p.Ala194Thr) single nucleotide variant FH-related disorder [RCV004555538]|Fumarase deficiency [RCV000477037]|Fumarase deficiency [RCV000765096]|Hereditary cancer-predisposing syndrome [RCV000130897]|Hereditary leiomyomatosis and renal cell cancer [RCV005246668]|not provided [RCV001547779]|not specified [RCV001731390] Chr1:241508761 [GRCh38]
Chr1:241672061 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1000A>C (p.Ser334Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130899]|not provided [RCV002512544] Chr1:241504150 [GRCh38]
Chr1:241667450 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.557G>A (p.Ser186Asn) single nucleotide variant Fumarase deficiency [RCV004567146]|Hereditary cancer-predisposing syndrome [RCV000131997]|Hereditary leiomyomatosis and renal cell cancer [RCV001029752]|not provided [RCV002514749] Chr1:241508784 [GRCh38]
Chr1:241672084 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.697C>T (p.Arg233Cys) single nucleotide variant Fumarase deficiency [RCV000549060]|Hereditary cancer-predisposing syndrome [RCV000129845]|not provided [RCV000153237] Chr1:241508644 [GRCh38]
Chr1:241671944 [GRCh37]
Chr1:1q43		 pathogenic
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43(chr1:239288025-242458053)x1 copy number loss See cases [RCV000141690] Chr1:239288025..242458053 [GRCh38]
Chr1:239451325..242621355 [GRCh37]
Chr1:237517948..240687978 [NCBI36]
Chr1:1q43		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217529]|Hereditary leiomyomatosis and renal cell cancer [RCV000445620]|not provided [RCV000153234] Chr1:241502525 [GRCh38]
Chr1:241665825 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_000143.4(FH):c.1067T>A (p.Leu356Ter) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV000190645]|not provided [RCV000790808] Chr1:241504083 [GRCh38]
Chr1:241667383 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000143.4(FH):c.737del (p.Gln246fs) deletion not provided [RCV000153236] Chr1:241508604 [GRCh38]
Chr1:241671904 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.11:g.241508646C>T single nucleotide variant not provided [RCV000153238] Chr1:241508646 [GRCh38]
Chr1:241671946 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.63C>T (p.Ala21=) single nucleotide variant FH-related disorder [RCV004734762]|Fumarase deficiency [RCV000370510]|Hereditary cancer-predisposing syndrome [RCV000166876]|Hereditary leiomyomatosis and renal cell cancer [RCV000270051]|not provided [RCV001706088] Chr1:241519660 [GRCh38]
Chr1:241682960 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1434T>C (p.Asn478=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164902]|Hereditary leiomyomatosis and renal cell cancer [RCV005246711]|not provided [RCV000841286] Chr1:241497927 [GRCh38]
Chr1:241661227 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del) deletion Fumarase deficiency [RCV003462155]|Hereditary cancer-predisposing syndrome [RCV000164936]|Hereditary leiomyomatosis and renal cell cancer [RCV003456005]|not provided [RCV001559555] Chr1:241506101..241506121 [GRCh38]
Chr1:241669401..241669421 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000143.4(FH):c.358A>G (p.Ile120Val) single nucleotide variant Fumarase deficiency [RCV000469505]|Hereditary cancer-predisposing syndrome [RCV000166997]|Hereditary leiomyomatosis and renal cell cancer [RCV001101030]|not provided [RCV002516512]|not specified [RCV003320130] Chr1:241513623 [GRCh38]
Chr1:241676923 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.305C>T (p.Ala102Val) single nucleotide variant FH-related disorder [RCV004734761]|Fumarase deficiency [RCV000349307]|Hereditary cancer-predisposing syndrome [RCV000165037]|Hereditary leiomyomatosis and renal cell cancer [RCV000388495]|not provided [RCV001582651] Chr1:241513676 [GRCh38]
Chr1:241676976 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.534C>T (p.Asn178=) single nucleotide variant FH-related disorder [RCV004555542]|Hereditary cancer-predisposing syndrome [RCV000165460]|Hereditary leiomyomatosis and renal cell cancer [RCV005246720]|not provided [RCV002516482] Chr1:241511988 [GRCh38]
Chr1:241675288 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.217G>A (p.Val73Met) single nucleotide variant FH-related disorder [RCV004555540]|Fumarase deficiency [RCV000467508]|Fumarase deficiency [RCV005016486]|Hereditary cancer-predisposing syndrome [RCV000163293]|Hereditary leiomyomatosis and renal cell cancer [RCV002291575]|not provided [RCV001532106]|not specified [RCV004596082] Chr1:241517232 [GRCh38]
Chr1:241680532 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.404A>G (p.His135Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000165850]|Hereditary leiomyomatosis and renal cell cancer [RCV003454408]|not provided [RCV001557300] Chr1:241512118 [GRCh38]
Chr1:241675418 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.591TGC[2] (p.Ala200del) microsatellite Hereditary cancer-predisposing syndrome [RCV000165970]|not provided [RCV002515155] Chr1:241508742..241508744 [GRCh38]
Chr1:241672042..241672044 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.437G>A (p.Gly146Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166128]|not provided [RCV000345017] Chr1:241512085 [GRCh38]
Chr1:241675385 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.122C>T (p.Ala41Val) single nucleotide variant FH-related disorder [RCV004555541]|Fumarase deficiency [RCV000342312]|Hereditary cancer-predisposing syndrome [RCV000163787]|Hereditary leiomyomatosis and renal cell cancer [RCV000394167]|not provided [RCV000837956]|not specified [RCV002267906] Chr1:241519601 [GRCh38]
Chr1:241682901 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.700A>G (p.Thr234Ala) single nucleotide variant Fumarase deficiency [RCV002498811]|Fumarase deficiency [RCV003467282]|Hereditary cancer-predisposing syndrome [RCV000163828]|Hereditary leiomyomatosis and renal cell cancer [RCV003316008]|not provided [RCV000195694] Chr1:241508641 [GRCh38]
Chr1:241671941 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.6C>T (p.Tyr2=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163845]|Hereditary leiomyomatosis and renal cell cancer [RCV005235062]|not provided [RCV000676940]|not specified [RCV000241727] Chr1:241519717 [GRCh38]
Chr1:241683017 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1428C>T (p.His476=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163868]|Hereditary leiomyomatosis and renal cell cancer [RCV003316010]|not provided [RCV001721056]|not specified [RCV000250389] Chr1:241497933 [GRCh38]
Chr1:241661233 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.785T>G (p.Ile262Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166376]|not provided [RCV001577505] Chr1:241506122 [GRCh38]
Chr1:241669422 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.1500G>A (p.Trp500Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000494499]|Hereditary leiomyomatosis and renal cell cancer [RCV000445633]|not provided [RCV000254913] Chr1:241497861 [GRCh38]
Chr1:241661161 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1144A>G (p.Met382Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000492991]|Hereditary leiomyomatosis and renal cell cancer [RCV003456042]|not provided [RCV000254948] Chr1:241502535 [GRCh38]
Chr1:241665835 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.892G>C (p.Ala298Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493248]|Hereditary leiomyomatosis and renal cell cancer [RCV000445630]|not provided [RCV000442479] Chr1:241506015 [GRCh38]
Chr1:241669315 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.*102T>C single nucleotide variant Fumarase deficiency [RCV000297371]|Hereditary leiomyomatosis and renal cell cancer [RCV000355546] Chr1:241497726 [GRCh38]
Chr1:241661026 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1210G>T (p.Glu404Ter) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV000192733]|not provided [RCV001579461] Chr1:241502469 [GRCh38]
Chr1:241665769 [GRCh37]
Chr1:1q43		 pathogenic|not provided
NM_000143.4(FH):c.905-1G>A single nucleotide variant Fumarase deficiency [RCV000804152]|Hereditary cancer-predisposing syndrome [RCV000493531]|Hereditary leiomyomatosis and renal cell cancer [RCV000193655]|not provided [RCV001534141] Chr1:241504246 [GRCh38]
Chr1:241667546 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|not provided
NM_000143.4(FH):c.1339A>T (p.Lys447Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493806]|not provided [RCV002515399] Chr1:241500488 [GRCh38]
Chr1:241663788 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.139C>T (p.Gln47Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000494159]|Hereditary leiomyomatosis and renal cell cancer [RCV000445602]|not provided [RCV000200269] Chr1:241517310 [GRCh38]
Chr1:241680610 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.584T>C (p.Met195Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354552]|Hereditary leiomyomatosis and renal cell cancer [RCV002222438]|not provided [RCV000505795] Chr1:241508757 [GRCh38]
Chr1:241672057 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1316A>C (p.Gln439Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520586] Chr1:241500511 [GRCh38]
Chr1:241663811 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.1391-1G>C single nucleotide variant Fumarase deficiency [RCV004567400]|not provided [RCV000196540] Chr1:241497971 [GRCh38]
Chr1:241661271 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.50C>T (p.Ala17Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566056]|Hereditary leiomyomatosis and renal cell cancer [RCV004786524]|not provided [RCV001722092] Chr1:241519673 [GRCh38]
Chr1:241682973 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1097G>A (p.Ser366Asn) single nucleotide variant Fumarase deficiency [RCV004567402]|Hereditary cancer-predisposing syndrome [RCV001017278]|Hereditary leiomyomatosis and renal cell cancer [RCV002291591]|not provided [RCV000200592] Chr1:241504053 [GRCh38]
Chr1:241667353 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.817G>A (p.Ala273Thr) single nucleotide variant Fumarase deficiency [RCV000467363]|Hereditary cancer-predisposing syndrome [RCV000572182]|Hereditary leiomyomatosis and renal cell cancer [RCV005429229]|not provided [RCV000200636] Chr1:241506090 [GRCh38]
Chr1:241669390 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.937G>T (p.Glu313Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372179]|Hereditary leiomyomatosis and renal cell cancer [RCV003483571]|not provided [RCV000196740] Chr1:241504213 [GRCh38]
Chr1:241667513 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.610C>A (p.His204Asn) single nucleotide variant Fumarase deficiency [RCV004567401]|Fumarase deficiency [RCV005396584]|Hereditary cancer-predisposing syndrome [RCV002354553]|not provided [RCV000196812] Chr1:241508731 [GRCh38]
Chr1:241672031 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.7C>T (p.Arg3Ter) single nucleotide variant Fumarase deficiency [RCV003468886]|Hereditary cancer-predisposing syndrome [RCV002415845]|not provided [RCV000196918] Chr1:241519716 [GRCh38]
Chr1:241683016 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.1189G>A (p.Gly397Arg) single nucleotide variant Fumarase deficiency [RCV000465210]|Fumarase deficiency [RCV005008131]|Hereditary cancer-predisposing syndrome [RCV002336534]|Hereditary leiomyomatosis and renal cell cancer [RCV000445595]|not provided [RCV000200752] Chr1:241502490 [GRCh38]
Chr1:241665790 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1349_1352del (p.Asn450fs) microsatellite not provided [RCV000200843] Chr1:241500475..241500478 [GRCh38]
Chr1:241663775..241663778 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1112A>G (p.Lys371Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003369066]|not provided [RCV005104132] Chr1:241502567 [GRCh38]
Chr1:241665867 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.839G>A (p.Gly280Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433881]|Hereditary leiomyomatosis and renal cell cancer [RCV001249415]|not provided [RCV000197030] Chr1:241506068 [GRCh38]
Chr1:241669368 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000143.4(FH):c.1357_1358del (p.Leu453fs) microsatellite not provided [RCV000197139] Chr1:241500469..241500470 [GRCh38]
Chr1:241663769..241663770 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390521]|Hereditary leiomyomatosis and renal cell cancer [RCV000445635]|not provided [RCV000197211] Chr1:241497967 [GRCh38]
Chr1:241661267 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.194A>G (p.Asp65Gly) single nucleotide variant Fumarase deficiency [RCV000456662]|Fumarase deficiency [RCV005016554]|Hereditary cancer-predisposing syndrome [RCV001013787]|not provided [RCV000197441] Chr1:241517255 [GRCh38]
Chr1:241680555 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1168A>T (p.Asn390Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948047]|not provided [RCV005061741] Chr1:241502511 [GRCh38]
Chr1:241665811 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.464A>T (p.Glu155Val) single nucleotide variant not provided [RCV003018491] Chr1:241512058 [GRCh38]
Chr1:241675358 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.3(FH):c.709C>T (p.Gln237Ter) single nucleotide variant not provided [RCV000197574] Chr1:241508632 [GRCh38]
Chr1:241671932 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1056dup (p.Leu353fs) duplication Hereditary cancer-predisposing syndrome [RCV000494113]|Hereditary leiomyomatosis and renal cell cancer [RCV002288799]|not provided [RCV000197689] Chr1:241504093..241504094 [GRCh38]
Chr1:241667393..241667394 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1237-18T>A single nucleotide variant not provided [RCV003417712]|not specified [RCV000197754] Chr1:241500608 [GRCh38]
Chr1:241663908 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.934T>C (p.Phe312Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493445]|Hereditary leiomyomatosis and renal cell cancer [RCV005237696]|not provided [RCV000197788] Chr1:241504216 [GRCh38]
Chr1:241667516 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.439A>G (p.Thr147Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327040]|not provided [RCV002517213] Chr1:241512083 [GRCh38]
Chr1:241675383 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.894_896del (p.Ala299del) deletion not specified [RCV000197901] Chr1:241506011..241506013 [GRCh38]
Chr1:241669311..241669313 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1007T>G (p.Met336Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493913] Chr1:241504143 [GRCh38]
Chr1:241667443 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.157G>A (p.Glu53Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399736]|not provided [RCV002517215] Chr1:241517292 [GRCh38]
Chr1:241680592 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1146G>A (p.Met382Ile) single nucleotide variant not provided [RCV000198172] Chr1:241502533 [GRCh38]
Chr1:241665833 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs) insertion Fumarase deficiency [RCV003462309]|Hereditary cancer-predisposing syndrome [RCV000494183]|Hereditary leiomyomatosis and renal cell cancer [RCV004791319]|not provided [RCV000198336] Chr1:241500456..241500457 [GRCh38]
Chr1:241663756..241663757 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1327G>T (p.Glu443Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004619226]|not provided [RCV001781573] Chr1:241500500 [GRCh38]
Chr1:241663800 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1446A>C (p.Leu482Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278693]|not provided [RCV000198419] Chr1:241497915 [GRCh38]
Chr1:241661215 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) single nucleotide variant Fumarase deficiency [RCV000696839]|Fumarase deficiency [RCV005396585]|Hereditary cancer-predisposing syndrome [RCV003165454]|not provided [RCV000198662]|not specified [RCV002465557] Chr1:241504102 [GRCh38]
Chr1:241667402 [GRCh37]
Chr1:1q43		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.688A>G (p.Lys230Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948207]|not provided [RCV002517212] Chr1:241508653 [GRCh38]
Chr1:241671953 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.1104_1106delinsACT (p.Met368_Pro369delinsIleLeu) indel not provided [RCV000198761] Chr1:241504044..241504046 [GRCh38]
Chr1:241667344..241667346 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.132G>A (p.Met44Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561722]|not provided [RCV002515400] Chr1:241519591 [GRCh38]
Chr1:241682891 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.3(FH):c.878T>A (p.Val293Asp) single nucleotide variant not provided [RCV000198919] Chr1:241506029 [GRCh38]
Chr1:241669329 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1391-2A>T single nucleotide variant Fumarase deficiency [RCV004567403]|Hereditary cancer-predisposing syndrome [RCV000494502]|not provided [RCV000198930] Chr1:241497972 [GRCh38]
Chr1:241661272 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.133-1G>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV000445590] Chr1:241517317 [GRCh38]
Chr1:241680617 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del) deletion Hereditary cancer-predisposing syndrome [RCV002415846]|Hereditary leiomyomatosis and renal cell cancer [RCV002288798]|not provided [RCV000195479] Chr1:241506071..241506091 [GRCh38]
Chr1:241669371..241669391 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000143.4(FH):c.1023T>G (p.Asp341Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493972]|not provided [RCV002515398] Chr1:241504127 [GRCh38]
Chr1:241667427 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1424C>A (p.Ala475Glu) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV000445597]|not provided [RCV003718136] Chr1:241497937 [GRCh38]
Chr1:241661237 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.7C>G (p.Arg3Gly) single nucleotide variant FH-related disorder [RCV004734852]|Fumarase deficiency [RCV000204400]|Hereditary cancer-predisposing syndrome [RCV000568788]|Hereditary leiomyomatosis and renal cell cancer [RCV000346414]|not provided [RCV000195609]|not specified [RCV001818470] Chr1:241519716 [GRCh38]
Chr1:241683016 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer) microsatellite Hereditary cancer-predisposing syndrome [RCV004020397]|Hereditary leiomyomatosis and renal cell cancer [RCV000445600]|not provided [RCV000195662] Chr1:241512123..241512127 [GRCh38]
Chr1:241675423..241675427 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1430_1437dup (p.Ser480fs) duplication not provided [RCV000199224] Chr1:241497923..241497924 [GRCh38]
Chr1:241661223..241661224 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.263T>A (p.Met88Lys) single nucleotide variant Cutaneous leiomyoma [RCV005420449]|not provided [RCV003717278] Chr1:241517186 [GRCh38]
Chr1:241680486 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.797dup (p.Met266fs) duplication Hereditary cancer-predisposing syndrome [RCV004020396]|not provided [RCV000195789] Chr1:241506109..241506110 [GRCh38]
Chr1:241669409..241669410 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.904+1G>A single nucleotide variant Fumarase deficiency [RCV002503771]|Hereditary cancer-predisposing syndrome [RCV002372178]|Hereditary leiomyomatosis and renal cell cancer [RCV003316091]|not provided [RCV002517214] Chr1:241506002 [GRCh38]
Chr1:241669302 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.703C>T (p.His235Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257492]|not provided [RCV000199454] Chr1:241508638 [GRCh38]
Chr1:241671938 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.-11C>T single nucleotide variant Fumarase deficiency [RCV000368306]|Hereditary leiomyomatosis and renal cell cancer [RCV000261877]|not provided [RCV001529842]|not specified [RCV000199536] Chr1:241519733 [GRCh38]
Chr1:241683033 [GRCh37]
Chr1:1q43		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.295_301del (p.Leu99fs) deletion Hereditary cancer-predisposing syndrome [RCV002286713]|not provided [RCV000199584] Chr1:241513680..241513686 [GRCh38]
Chr1:241676980..241676986 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.937G>A (p.Glu313Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948208]|not provided [RCV000199631] Chr1:241504213 [GRCh38]
Chr1:241667513 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1359A>G (p.Leu453=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004045753]|Hereditary leiomyomatosis and renal cell cancer [RCV005247454]|not provided [RCV002993474] Chr1:241500468 [GRCh38]
Chr1:241663768 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.418G>C (p.Val140Leu) single nucleotide variant Fumarase deficiency [RCV000821881]|Hereditary cancer-predisposing syndrome [RCV002327039]|not provided [RCV002515401] Chr1:241512104 [GRCh38]
Chr1:241675404 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1268T>G (p.Leu423Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010667]|not provided [RCV000196004] Chr1:241500559 [GRCh38]
Chr1:241663859 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.976G>A (p.Gly326Arg) single nucleotide variant not provided [RCV002515397] Chr1:241504174 [GRCh38]
Chr1:241667474 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.965T>G (p.Val322Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019611]|Hereditary leiomyomatosis and renal cell cancer [RCV000445631]|not provided [RCV000196089] Chr1:241504185 [GRCh38]
Chr1:241667485 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1093A>G (p.Ser365Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000220270]|Hereditary leiomyomatosis and renal cell cancer [RCV000445606]|not provided [RCV000196179] Chr1:241504057 [GRCh38]
Chr1:241667357 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1083_1086del (p.Glu362fs) deletion Fumarase deficiency [RCV003462308]|Fumarase deficiency [RCV005008130]|Hereditary cancer-predisposing syndrome [RCV000493004]|Hereditary leiomyomatosis and renal cell cancer [RCV000445586]|not provided [RCV000196197] Chr1:241504064..241504067 [GRCh38]
Chr1:241667364..241667367 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.947C>A (p.Ala316Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000494152]|Hereditary leiomyomatosis and renal cell cancer [RCV003454493]|not provided [RCV000199702] Chr1:241504203 [GRCh38]
Chr1:241667503 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup) duplication Hereditary cancer-predisposing syndrome [RCV002399735]|Hereditary leiomyomatosis and renal cell cancer [RCV005055086]|not provided [RCV000199721] Chr1:241506112..241506113 [GRCh38]
Chr1:241669412..241669413 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000143.4(FH):c.1263del (p.Arg421fs) deletion not provided [RCV000196430] Chr1:241500564 [GRCh38]
Chr1:241663864 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.554A>G (p.Gln185Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000494490]|Hereditary leiomyomatosis and renal cell cancer [RCV000445603]|not provided [RCV000196456] Chr1:241511968 [GRCh38]
Chr1:241675268 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1139_1142del (p.Met380fs) deletion not provided [RCV000199986] Chr1:241502537..241502540 [GRCh38]
Chr1:241665837..241665840 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.539A>G (p.His180Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493387]|not provided [RCV001781575] Chr1:241511983 [GRCh38]
Chr1:241675283 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.736C>T (p.Gln246Ter) single nucleotide variant not provided [RCV000200102] Chr1:241508605 [GRCh38]
Chr1:241671905 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1400dup (p.Ala468fs) duplication Hereditary cancer-predisposing syndrome [RCV005338106]|not provided [RCV000200182] Chr1:241497960..241497961 [GRCh38]
Chr1:241661260..241661261 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1237-50TC[18] microsatellite FH-related disorder [RCV004555550]|Fumarase deficiency [RCV000355616]|Hereditary cancer-predisposing syndrome [RCV002255356]|Hereditary leiomyomatosis and renal cell cancer [RCV000260799]|not provided [RCV001579647]|not specified [RCV002268017] Chr1:241500603..241500604 [GRCh38]
Chr1:241663903..241663904 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.12A>G (p.Ala4=) single nucleotide variant Fumarase deficiency [RCV000285539]|Hereditary cancer-predisposing syndrome [RCV000564813]|Hereditary leiomyomatosis and renal cell cancer [RCV000342804]|not provided [RCV001711883] Chr1:241519711 [GRCh38]
Chr1:241683011 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.379-15A>T single nucleotide variant Fumarase deficiency [RCV000321597]|Hereditary leiomyomatosis and renal cell cancer [RCV000360971]|not provided [RCV002522125]|not specified [RCV000436971] Chr1:241512158 [GRCh38]
Chr1:241675458 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.33G>C (p.Ser11=) single nucleotide variant FH-related disorder [RCV004555551]|Fumarase deficiency [RCV000315971]|Hereditary cancer-predisposing syndrome [RCV000564759]|Hereditary leiomyomatosis and renal cell cancer [RCV000372989]|not provided [RCV001706443]|not specified [RCV002268018] Chr1:241519690 [GRCh38]
Chr1:241682990 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1237-12A>T single nucleotide variant FH-related disorder [RCV004734952]|Fumarase deficiency [RCV000270742]|Hereditary leiomyomatosis and renal cell cancer [RCV000325826]|not provided [RCV001711881]|not specified [RCV003320627] Chr1:241500602 [GRCh38]
Chr1:241663902 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1443C>G (p.Thr481=) single nucleotide variant Fumarase deficiency [RCV000326720]|Hereditary cancer-predisposing syndrome [RCV001011606]|Hereditary leiomyomatosis and renal cell cancer [RCV000366211]|not provided [RCV003103755] Chr1:241497918 [GRCh38]
Chr1:241661218 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.349G>C (p.Ala117Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020456]|Hereditary leiomyomatosis and renal cell cancer [RCV003456040]|not provided [RCV000255340] Chr1:241513632 [GRCh38]
Chr1:241676932 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.653T>C (p.Leu218Pro) single nucleotide variant not provided [RCV002527735] Chr1:241508688 [GRCh38]
Chr1:241671988 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.1480G>C (p.Ala494Pro) single nucleotide variant Fumarase deficiency [RCV001829607]|Hereditary cancer-predisposing syndrome [RCV000561988]|not provided [RCV002526907] Chr1:241497881 [GRCh38]
Chr1:241661181 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.404A>C (p.His135Pro) single nucleotide variant not provided [RCV002527727] Chr1:241512118 [GRCh38]
Chr1:241675418 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.809A>G (p.Tyr270Cys) single nucleotide variant Fumarase deficiency [RCV000525718]|Hereditary cancer-predisposing syndrome [RCV000573963]|Hereditary leiomyomatosis and renal cell cancer [RCV005248183]|not provided [RCV001551931] Chr1:241506098 [GRCh38]
Chr1:241669398 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.120C>T (p.Asn40=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000215382]|Hereditary leiomyomatosis and renal cell cancer [RCV005246812]|not provided [RCV002518238] Chr1:241519603 [GRCh38]
Chr1:241682903 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.456T>C (p.Asn152=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217094]|Hereditary leiomyomatosis and renal cell cancer [RCV005246815]|not provided [RCV002519668] Chr1:241512066 [GRCh38]
Chr1:241675366 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1163T>C (p.Met388Thr) single nucleotide variant Fumarase deficiency [RCV000695731]|Hereditary cancer-predisposing syndrome [RCV000219659]|not provided [RCV001762501] Chr1:241502516 [GRCh38]
Chr1:241665816 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.270C>G (p.Thr90=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000222097]|not provided [RCV002515725] Chr1:241513711 [GRCh38]
Chr1:241677011 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.37C>T (p.Pro13Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217403]|not provided [RCV002518291] Chr1:241519686 [GRCh38]
Chr1:241682986 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.98T>G (p.Val33Gly) single nucleotide variant Fumarase deficiency [RCV001046087]|Hereditary cancer-predisposing syndrome [RCV000562224]|not provided [RCV002509451] Chr1:241519625 [GRCh38]
Chr1:241682925 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.154A>T (p.Ile52Leu) single nucleotide variant Fumarase deficiency [RCV001273185]|Hereditary cancer-predisposing syndrome [RCV000565315]|not provided [RCV002528977] Chr1:241517295 [GRCh38]
Chr1:241680595 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.420A>G (p.Val140=) single nucleotide variant not provided [RCV005208762] Chr1:241512102 [GRCh38]
Chr1:241675402 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.316del (p.Glu105_Val106insTer) deletion Hereditary cancer-predisposing syndrome [RCV000213630]|not provided [RCV000275674] Chr1:241513665 [GRCh38]
Chr1:241676965 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1120C>A (p.Pro374Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000222416] Chr1:241502559 [GRCh38]
Chr1:241665859 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1389A>G (p.Ile463Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000222699]|not provided [RCV002515649]|not specified [RCV001818531] Chr1:241500438 [GRCh38]
Chr1:241663738 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.468C>A (p.Val156=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000214643]|Hereditary leiomyomatosis and renal cell cancer [RCV005246845]|not provided [RCV002515690]|not specified [RCV004596125] Chr1:241512054 [GRCh38]
Chr1:241675354 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1216A>G (p.Asn406Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000216325]|not provided [RCV002515638] Chr1:241502463 [GRCh38]
Chr1:241665763 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.357A>C (p.Ala119=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000218878]|Hereditary leiomyomatosis and renal cell cancer [RCV005246857]|not provided [RCV002516156] Chr1:241513624 [GRCh38]
Chr1:241676924 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.92C>T (p.Ala31Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000219137]|not provided [RCV002519693]|not specified [RCV003493522] Chr1:241519631 [GRCh38]
Chr1:241682931 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.926C>T (p.Pro309Leu) single nucleotide variant Fumarase deficiency [RCV000230405]|Fumarase deficiency [RCV002487046]|Hereditary cancer-predisposing syndrome [RCV002372248]|not provided [RCV001589168] Chr1:241504224 [GRCh38]
Chr1:241667524 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1482A>G (p.Ala494=) single nucleotide variant FH-related disorder [RCV004555546]|Fumarase deficiency [RCV000228601]|Hereditary cancer-predisposing syndrome [RCV001011810]|Hereditary leiomyomatosis and renal cell cancer [RCV001097100]|not provided [RCV001589167]|not specified [RCV002267976] Chr1:241497879 [GRCh38]
Chr1:241661179 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.478A>G (p.Arg160Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023046]|not provided [RCV001782719] Chr1:241512044 [GRCh38]
Chr1:241675344 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.1184C>T (p.Thr395Ile) single nucleotide variant not provided [RCV002519778] Chr1:241502495 [GRCh38]
Chr1:241665795 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1462G>A (p.Glu488Lys) single nucleotide variant Fumarase deficiency [RCV003469130]|Hereditary cancer-predisposing syndrome [RCV000570137]|not provided [RCV001550243]|not specified [RCV001001725] Chr1:241497899 [GRCh38]
Chr1:241661199 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.251T>C (p.Val84Ala) single nucleotide variant Fumarase deficiency [RCV000765098]|Hereditary cancer-predisposing syndrome [RCV005338113]|not provided [RCV002519779] Chr1:241517198 [GRCh38]
Chr1:241680498 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.701C>T (p.Thr234Ile) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005425868]|not provided [RCV002518307] Chr1:241508640 [GRCh38]
Chr1:241671940 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.739-10T>C single nucleotide variant Fumarase deficiency [RCV000233450]|Hereditary leiomyomatosis and renal cell cancer [RCV000300539]|not provided [RCV001706244]|not specified [RCV000245107] Chr1:241506178 [GRCh38]
Chr1:241669478 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000143.4(FH):c.1237-14_1237-9dup duplication FH-related disorder [RCV004555545]|Fumarase deficiency [RCV000231245]|Hereditary leiomyomatosis and renal cell cancer [RCV000310725]|not provided [RCV002516307]|not specified [RCV001818563] Chr1:241500598..241500599 [GRCh38]
Chr1:241663898..241663899 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.267+1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429090]|Hereditary leiomyomatosis and renal cell cancer [RCV000445634]|not provided [RCV001782718] Chr1:241517181 [GRCh38]
Chr1:241680481 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.379G>T (p.Val127Leu) single nucleotide variant Fumarase deficiency [RCV000232407]|Hereditary cancer-predisposing syndrome [RCV003165593]|not provided [RCV002516308] Chr1:241512143 [GRCh38]
Chr1:241675443 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1A>G (p.Met1Val) single nucleotide variant Fumarase deficiency [RCV005008182]|Hereditary cancer-predisposing syndrome [RCV002417984]|not provided [RCV000498198] Chr1:241519722 [GRCh38]
Chr1:241683022 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.193G>A (p.Asp65Asn) single nucleotide variant Fumarase deficiency [RCV000549382]|Fumarase deficiency [RCV005018919]|Hereditary cancer-predisposing syndrome [RCV002413481]|Hereditary leiomyomatosis and renal cell cancer [RCV004787851]|not provided [RCV002528326] Chr1:241517256 [GRCh38]
Chr1:241680556 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.477T>C (p.Asn159=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002331064]|Hereditary leiomyomatosis and renal cell cancer [RCV005248430]|not provided [RCV001698020] Chr1:241512045 [GRCh38]
Chr1:241675345 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1237-13C>T single nucleotide variant not specified [RCV000605920] Chr1:241500603 [GRCh38]
Chr1:241663903 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1A>C (p.Met1Leu) single nucleotide variant Fumarase deficiency [RCV000369616]|Fumarase deficiency [RCV005008276]|Hereditary cancer-predisposing syndrome [RCV002418146]|Hereditary leiomyomatosis and renal cell cancer [RCV000307949]|not provided [RCV002522126] Chr1:241519722 [GRCh38]
Chr1:241683022 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.684C>T (p.Ile228=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367804]|not provided [RCV002527737] Chr1:241508657 [GRCh38]
Chr1:241671957 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44		 pathogenic
NM_000143.4(FH):c.1390+1G>T single nucleotide variant Fumarase deficiency [RCV001251427]|Hereditary cancer-predisposing syndrome [RCV001011336]|Hereditary leiomyomatosis and renal cell cancer [RCV003454775]|not provided [RCV000255853] Chr1:241500436 [GRCh38]
Chr1:241663736 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.668_669del (p.Lys223fs) deletion Fumarase deficiency [RCV003469195]|Hereditary cancer-predisposing syndrome [RCV005338120]|Hereditary leiomyomatosis and renal cell cancer [RCV003456041]|not provided [RCV000255892] Chr1:241508672..241508673 [GRCh38]
Chr1:241671972..241671973 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.27G>A (p.Ala9=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564339]|Hereditary leiomyomatosis and renal cell cancer [RCV005248175]|not provided [RCV002527726] Chr1:241519696 [GRCh38]
Chr1:241682996 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1468G>C (p.Gly490Arg) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV004787850]|not provided [RCV002527723] Chr1:241497893 [GRCh38]
Chr1:241661193 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.917T>C (p.Val306Ala) single nucleotide variant Fumarase deficiency [RCV000540225]|Fumarase deficiency [RCV002490990]|Hereditary cancer-predisposing syndrome [RCV000569138]|Hereditary leiomyomatosis and renal cell cancer [RCV001097195]|not provided [RCV001731756] Chr1:241504233 [GRCh38]
Chr1:241667533 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.648T>A (p.Asp216Glu) single nucleotide variant Fumarase deficiency [RCV000705539]|Hereditary cancer-predisposing syndrome [RCV000564564]|Hereditary leiomyomatosis and renal cell cancer [RCV005248291]|not provided [RCV001529212]|not specified [RCV001821687] Chr1:241508693 [GRCh38]
Chr1:241671993 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.*92G>T single nucleotide variant Fumarase deficiency [RCV000361516]|Hereditary leiomyomatosis and renal cell cancer [RCV000321931] Chr1:241497736 [GRCh38]
Chr1:241661036 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.*221_*222del deletion Fumarase deficiency [RCV000349527]|Hereditary leiomyomatosis and renal cell cancer [RCV000300756]|not provided [RCV001651349] Chr1:241497606..241497607 [GRCh38]
Chr1:241660906..241660907 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.3(FH):c.*266A>G single nucleotide variant Fumarase deficiency [RCV000343612]|Hereditary leiomyomatosis and renal cell cancer [RCV000400259] Chr1:241497562 [GRCh38]
Chr1:241660862 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1237-50TC[25] microsatellite FH-related disorder [RCV004555549]|Fumarase deficiency [RCV000367974]|Hereditary cancer-predisposing syndrome [RCV002256189]|Hereditary leiomyomatosis and renal cell cancer [RCV000313248]|not provided [RCV001795915]|not specified [RCV002279953] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1237-50TC[20] microsatellite Fumarase deficiency [RCV000386377]|Hereditary cancer-predisposing syndrome [RCV002257627]|Hereditary leiomyomatosis and renal cell cancer [RCV000276737]|not provided [RCV001636853]|not specified [RCV000456048] Chr1:241500602..241500603 [GRCh38]
Chr1:241663903..241663904 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.190A>G (p.Asn64Asp) single nucleotide variant Fumarase deficiency [RCV000387476]|Hereditary cancer-predisposing syndrome [RCV000570874]|Hereditary leiomyomatosis and renal cell cancer [RCV000338926]|not provided [RCV002520481] Chr1:241517259 [GRCh38]
Chr1:241680559 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.944_945del (p.Leu315fs) deletion not provided [RCV000291565] Chr1:241504205..241504206 [GRCh38]
Chr1:241667505..241667506 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1475_1476del (p.Leu492fs) microsatellite Fumarase deficiency [RCV004567819]|Hereditary cancer-predisposing syndrome [RCV000494455]|Hereditary leiomyomatosis and renal cell cancer [RCV003335299]|not provided [RCV000297629] Chr1:241497885..241497886 [GRCh38]
Chr1:241661185..241661186 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1237-50TC[21] microsatellite Fumarase deficiency [RCV000282143]|Hereditary cancer-predisposing syndrome [RCV002365342]|Hereditary leiomyomatosis and renal cell cancer [RCV000373250]|not provided [RCV001618510]|not specified [RCV000455309] Chr1:241500602..241500603 [GRCh38]
Chr1:241663903..241663906 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1237-50TC[22] microsatellite Fumarase deficiency [RCV000343423]|Hereditary leiomyomatosis and renal cell cancer [RCV000398241]|not provided [RCV001711882]|not specified [RCV001820852] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1237-50TC[23] microsatellite Fumarase deficiency [RCV000339845]|Hereditary leiomyomatosis and renal cell cancer [RCV000399956]|not provided [RCV001579340]|not specified [RCV001701843] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.3(FH):c.-48G>T single nucleotide variant Fumarase deficiency [RCV000319482]|Hereditary leiomyomatosis and renal cell cancer [RCV000353271] Chr1:241519770 [GRCh38]
Chr1:241683070 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-9_1237-8insCTCTCT microsatellite Fumarase deficiency [RCV000358740]|Hereditary leiomyomatosis and renal cell cancer [RCV000399875]|not provided [RCV002522124] Chr1:241500598..241500599 [GRCh38]
Chr1:241663898..241663899 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1237-50TC[24] microsatellite Fumarase deficiency [RCV000362365]|Hereditary leiomyomatosis and renal cell cancer [RCV000390052]|not provided [RCV001538757]|not specified [RCV002268016] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1506dup (p.Pro503fs) duplication Hereditary cancer-predisposing syndrome [RCV000494476]|Hereditary leiomyomatosis and renal cell cancer [RCV000445599]|not provided [RCV000354790] Chr1:241497854..241497855 [GRCh38]
Chr1:241661154..241661155 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.1237-50TC[17] microsatellite Fumarase deficiency [RCV000315902]|Hereditary cancer-predisposing syndrome [RCV002256190]|Hereditary leiomyomatosis and renal cell cancer [RCV000266800]|not specified [RCV002279954] Chr1:241500603..241500606 [GRCh38]
Chr1:241663903..241663906 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1237-5_1237-4insCTCT microsatellite Fumarase deficiency [RCV000334499]|Hereditary leiomyomatosis and renal cell cancer [RCV000401775] Chr1:241500594..241500595 [GRCh38]
Chr1:241663894..241663895 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1074G>A (p.Leu358=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311064] Chr1:241504076 [GRCh38]
Chr1:241667376 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.902C>G (p.Thr301Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311066] Chr1:241506005 [GRCh38]
Chr1:241669305 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.100C>T (p.Pro34Ser) single nucleotide variant Fumarase deficiency [RCV001280071]|Hereditary cancer-predisposing syndrome [RCV002436991]|not provided [RCV003558791] Chr1:241519623 [GRCh38]
Chr1:241682923 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.382G>A (p.Ala128Thr) single nucleotide variant Fumarase deficiency [RCV000530788]|Fumarase deficiency [RCV000765097]|Hereditary cancer-predisposing syndrome [RCV002358479]|not provided [RCV002528327] Chr1:241512140 [GRCh38]
Chr1:241675440 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.678A>G (p.Ala226=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025644]|Hereditary leiomyomatosis and renal cell cancer [RCV005248182]|not provided [RCV002528332] Chr1:241508663 [GRCh38]
Chr1:241671963 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.412C>G (p.Leu138Val) single nucleotide variant Fumarase deficiency [RCV000559902]|Hereditary cancer-predisposing syndrome [RCV000561208]|not provided [RCV002528328] Chr1:241512110 [GRCh38]
Chr1:241675410 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.905-1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568960] Chr1:241504246 [GRCh38]
Chr1:241667546 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.773C>T (p.Ala258Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569320] Chr1:241506134 [GRCh38]
Chr1:241669434 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1522G>A (p.Gly508Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311065] Chr1:241497839 [GRCh38]
Chr1:241661139 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1486C>T (p.Gln496Ter) single nucleotide variant not provided [RCV000521079] Chr1:241497875 [GRCh38]
Chr1:241661175 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1408A>G (p.Lys470Glu) single nucleotide variant Fumarase deficiency [RCV000550902]|Hereditary cancer-predisposing syndrome [RCV001011420]|Hereditary leiomyomatosis and renal cell cancer [RCV002254703]|not provided [RCV002527721] Chr1:241497953 [GRCh38]
Chr1:241661253 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_000143.4(FH):c.1023T>C (p.Asp341=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568101]|not provided [RCV002526806] Chr1:241504127 [GRCh38]
Chr1:241667427 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.905-5T>A single nucleotide variant Fumarase deficiency [RCV000311306]|Hereditary leiomyomatosis and renal cell cancer [RCV000398468]|not provided [RCV003698757] Chr1:241504250 [GRCh38]
Chr1:241667550 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.535G>A (p.Asp179Asn) single nucleotide variant Fumarase deficiency [RCV000551411]|Hereditary cancer-predisposing syndrome [RCV000572955]|not provided [RCV002527731] Chr1:241511987 [GRCh38]
Chr1:241675287 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.81delinsAT (p.Leu28fs) indel not provided [RCV000598954] Chr1:241519642 [GRCh38]
Chr1:241682942 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.675del (p.Phe225fs) deletion Hereditary leiomyomatosis and renal cell cancer [RCV005422819]|not provided [RCV000599039] Chr1:241508666 [GRCh38]
Chr1:241671966 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.221dup (p.Ser75fs) duplication not provided [RCV000599074] Chr1:241517227..241517228 [GRCh38]
Chr1:241680527..241680528 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.94G>T (p.Ala32Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569300]|not provided [RCV002530338] Chr1:241519629 [GRCh38]
Chr1:241682929 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1117_1119del (p.Asn373del) deletion Hereditary cancer-predisposing syndrome [RCV004023829]|not provided [RCV002527717] Chr1:241502560..241502562 [GRCh38]
Chr1:241665860..241665862 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.904+47G>A single nucleotide variant Fumarase deficiency [RCV001533678]|Hereditary leiomyomatosis and renal cell cancer [RCV001533679]|not provided [RCV000830745]|not specified [RCV000596534] Chr1:241505956 [GRCh38]
Chr1:241669256 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.894T>C (p.Ala298=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377040]|Hereditary leiomyomatosis and renal cell cancer [RCV005248184]|not provided [RCV001550598] Chr1:241506013 [GRCh38]
Chr1:241669313 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.531C>G (p.Pro177=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350216]|Hereditary leiomyomatosis and renal cell cancer [RCV005248178]|not provided [RCV002528330] Chr1:241511991 [GRCh38]
Chr1:241675291 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1049G>A (p.Arg350Gln) single nucleotide variant Fumarase deficiency [RCV000635318]|Fumarase deficiency [RCV005010548]|Hereditary cancer-predisposing syndrome [RCV000567804]|Hereditary leiomyomatosis and renal cell cancer [RCV005248293]|not provided [RCV000994324] Chr1:241504101 [GRCh38]
Chr1:241667401 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1046C>G (p.Pro349Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572030]|not provided [RCV002528002] Chr1:241504104 [GRCh38]
Chr1:241667404 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.739-2A>C single nucleotide variant not provided [RCV002528333] Chr1:241506170 [GRCh38]
Chr1:241669470 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.127C>G (p.Arg43Gly) single nucleotide variant Fumarase deficiency [RCV000537507]|Hereditary cancer-predisposing syndrome [RCV002384077]|not provided [RCV002528325] Chr1:241519596 [GRCh38]
Chr1:241682896 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1025T>C (p.Ile342Thr) single nucleotide variant Fumarase deficiency [RCV001050789]|Hereditary cancer-predisposing syndrome [RCV000569364]|not provided [RCV002528003] Chr1:241504125 [GRCh38]
Chr1:241667425 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.586C>T (p.His196Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572384]|not provided [RCV003736823] Chr1:241508755 [GRCh38]
Chr1:241672055 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1526C>T (p.Pro509Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569393] Chr1:241497835 [GRCh38]
Chr1:241661135 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1229C>T (p.Pro410Leu) single nucleotide variant not provided [RCV002523907]|not specified [RCV000412803] Chr1:241502450 [GRCh38]
Chr1:241665750 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.520C>A (p.Pro174Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572769] Chr1:241512002 [GRCh38]
Chr1:241675302 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.379-10T>G single nucleotide variant not provided [RCV005091265] Chr1:241512153 [GRCh38]
Chr1:241675453 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.767A>C (p.Lys256Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561375]|not provided [RCV002526808] Chr1:241506140 [GRCh38]
Chr1:241669440 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1302C>A (p.Cys434Ter) single nucleotide variant not provided [RCV000413968] Chr1:241500525 [GRCh38]
Chr1:241663825 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.222A>T (p.Arg74Ser) single nucleotide variant Fumarase deficiency [RCV000635311]|Hereditary cancer-predisposing syndrome [RCV000571616]|not provided [RCV002528980] Chr1:241517227 [GRCh38]
Chr1:241680527 [GRCh37]
Chr1:1q43		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1108+1G>T single nucleotide variant FH-related disorder [RCV003335313]|Hereditary cancer-predisposing syndrome [RCV001017339]|Hereditary leiomyomatosis and renal cell cancer [RCV003456067]|not provided [RCV000414171] Chr1:241504041 [GRCh38]
Chr1:241667341 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
NM_000143.4(FH):c.1199A>G (p.Asn400Ser) single nucleotide variant Fumarase deficiency [RCV001223310]|Hereditary cancer-predisposing syndrome [RCV000568126]|not provided [RCV002526908] Chr1:241502480 [GRCh38]
Chr1:241665780 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:241094652-246670839)x1 copy number loss See cases [RCV000446261] Chr1:241094652..246670839 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44		 pathogenic
NM_000143.4(FH):c.907T>G (p.Leu303Val) single nucleotide variant Fumarase deficiency [RCV002481331]|not provided [RCV000445241] Chr1:241504243 [GRCh38]
Chr1:241667543 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.553_554insTG (p.Gln185fs) insertion Fumarase deficiency [RCV003470388]|Hereditary cancer-predisposing syndrome [RCV000572356]|Hereditary leiomyomatosis and renal cell cancer [RCV000445584]|not provided [RCV000486167] Chr1:241511968..241511969 [GRCh38]
Chr1:241675268..241675269 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.239dup (p.Ile81fs) duplication Fumarase deficiency [RCV003463831]|Hereditary cancer-predisposing syndrome [RCV000493657]|Hereditary leiomyomatosis and renal cell cancer [RCV000445591]|not provided [RCV000486885] Chr1:241517209..241517210 [GRCh38]
Chr1:241680509..241680510 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.722_738+3del deletion Hereditary cancer-predisposing syndrome [RCV001026175]|Hereditary leiomyomatosis and renal cell cancer [RCV000445593]|not provided [RCV002522733] Chr1:241508600..241508619 [GRCh38]
Chr1:241671900..241671919 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.820G>C (p.Ala274Pro) single nucleotide variant Fumarase deficiency [RCV004567929]|Hereditary leiomyomatosis and renal cell cancer [RCV000445594] Chr1:241506087 [GRCh38]
Chr1:241669387 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.1041del (p.Gly348fs) deletion Hereditary cancer-predisposing syndrome [RCV000575212]|Hereditary leiomyomatosis and renal cell cancer [RCV000445598]|not provided [RCV001782908] Chr1:241504109 [GRCh38]
Chr1:241667409 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.439dup (p.Thr147fs) duplication Hereditary leiomyomatosis and renal cell cancer [RCV000445601]|not provided [RCV000657166] Chr1:241512082..241512083 [GRCh38]
Chr1:241675382..241675383 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.560C>T (p.Ser187Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000492920]|Hereditary leiomyomatosis and renal cell cancer [RCV000445604]|not provided [RCV002522732] Chr1:241508781 [GRCh38]
Chr1:241672081 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000143.4(FH):c.1138dup (p.Met380fs) duplication Hereditary cancer-predisposing syndrome [RCV002323668]|Hereditary leiomyomatosis and renal cell cancer [RCV000445607]|not provided [RCV001782910] Chr1:241502540..241502541 [GRCh38]
Chr1:241665840..241665841 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1298_1340dup (p.Met449fs) duplication Hereditary leiomyomatosis and renal cell cancer [RCV000445609] Chr1:241500486..241500487 [GRCh38]
Chr1:241663786..241663787 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1469del (p.Gly490fs) deletion Hereditary cancer-predisposing syndrome [RCV002393069]|Hereditary leiomyomatosis and renal cell cancer [RCV000445610]|not provided [RCV002522734] Chr1:241497892 [GRCh38]
Chr1:241661192 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.267+1_267+10del deletion Hereditary leiomyomatosis and renal cell cancer [RCV000445611]|not provided [RCV002522731] Chr1:241517172..241517181 [GRCh38]
Chr1:241680472..241680481 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.731T>G (p.Leu244Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168712]|Hereditary leiomyomatosis and renal cell cancer [RCV000445612]|not provided [RCV003558385] Chr1:241508610 [GRCh38]
Chr1:241671910 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.1209del (p.Phe403fs) deletion Fumarase deficiency [RCV003463832]|Hereditary cancer-predisposing syndrome [RCV001010289]|Hereditary leiomyomatosis and renal cell cancer [RCV000445613]|not provided [RCV002525532] Chr1:241502470 [GRCh38]
Chr1:241665770 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.823G>C (p.Gly275Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000494229]|Hereditary leiomyomatosis and renal cell cancer [RCV000445614]|not provided [RCV000489286] Chr1:241506084 [GRCh38]
Chr1:241669384 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.556-2A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348253]|Hereditary leiomyomatosis and renal cell cancer [RCV000445615]|not provided [RCV001561083] Chr1:241508787 [GRCh38]
Chr1:241672087 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1022A>G (p.Asp341Gly) single nucleotide variant FH-related disorder [RCV004555576]|Hereditary leiomyomatosis and renal cell cancer [RCV000445616]|not provided [RCV002525530] Chr1:241504128 [GRCh38]
Chr1:241667428 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.1063G>T (p.Glu355Ter) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV000445617]|not provided [RCV001782909] Chr1:241504087 [GRCh38]
Chr1:241667387 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.395del (p.Lys131_Leu132insTer) deletion Hereditary leiomyomatosis and renal cell cancer [RCV000445618] Chr1:241512127 [GRCh38]
Chr1:241675427 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.524del (p.Val175fs) deletion Hereditary leiomyomatosis and renal cell cancer [RCV000445619] Chr1:241511998 [GRCh38]
Chr1:241675298 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.703C>G (p.His235Asp) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV000445621]|not provided [RCV003574775] Chr1:241508638 [GRCh38]
Chr1:241671938 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.157G>T (p.Glu53Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402222]|Hereditary leiomyomatosis and renal cell cancer [RCV000445623]|not provided [RCV001529890] Chr1:241517292 [GRCh38]
Chr1:241680592 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1118A>G (p.Asn373Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004619292]|Hereditary leiomyomatosis and renal cell cancer [RCV000445626]|not provided [RCV002525531] Chr1:241502561 [GRCh38]
Chr1:241665861 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del) deletion Hereditary cancer-predisposing syndrome [RCV000563738]|Hereditary leiomyomatosis and renal cell cancer [RCV000445627]|not provided [RCV002526368] Chr1:241508758..241508763 [GRCh38]
Chr1:241672058..241672063 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.132+5G>T single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV000445628] Chr1:241519586 [GRCh38]
Chr1:241682886 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.395T>C (p.Leu132Ser) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV000445629] Chr1:241512127 [GRCh38]
Chr1:241675427 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.322C>T (p.Gln108Ter) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV000445632]|Uterine leiomyoma [RCV000626620]|not provided [RCV002526367] Chr1:241513659 [GRCh38]
Chr1:241676959 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.808del (p.Tyr270fs) deletion Hereditary leiomyomatosis and renal cell cancer [RCV000445636] Chr1:241506099 [GRCh38]
Chr1:241669399 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.431G>T (p.Gly144Val) single nucleotide variant Fumarase deficiency [RCV005398535]|Hereditary cancer-predisposing syndrome [RCV003338588]|not provided [RCV000438718] Chr1:241512091 [GRCh38]
Chr1:241675391 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1061G>A (p.Gly354Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411379]|not provided [RCV000418837] Chr1:241504089 [GRCh38]
Chr1:241667389 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.923C>G (p.Ala308Gly) single nucleotide variant Fumarase deficiency [RCV004567924]|Hereditary cancer-predisposing syndrome [RCV001019060]|not provided [RCV000430394] Chr1:241504227 [GRCh38]
Chr1:241667527 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 copy number loss See cases [RCV000448028] Chr1:241601964..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_000143.4(FH):c.302G>A (p.Arg101Gln) single nucleotide variant Fumarase deficiency [RCV000466487]|Hereditary cancer-predisposing syndrome [RCV001018184]|Hereditary leiomyomatosis and renal cell cancer [RCV004787712]|not provided [RCV001546164]|not specified [RCV003320644] Chr1:241513679 [GRCh38]
Chr1:241676979 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1052C>A (p.Ser351Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402239]|not provided [RCV001782931] Chr1:241504098 [GRCh38]
Chr1:241667398 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1391-1G>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV004791467]|not provided [RCV002523292] Chr1:241497971 [GRCh38]
Chr1:241661271 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.40dup (p.Leu14fs) duplication Fumarase deficiency [RCV003470407]|Fumarase deficiency [RCV005018748]|Hereditary cancer-predisposing syndrome [RCV000493321]|not provided [RCV001556671] Chr1:241519682..241519683 [GRCh38]
Chr1:241682982..241682983 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1325C>G (p.Thr442Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379423]|not provided [RCV002525541] Chr1:241500502 [GRCh38]
Chr1:241663802 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.981C>T (p.Ala327=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374833]|Hereditary leiomyomatosis and renal cell cancer [RCV005247075]|not provided [RCV002526472] Chr1:241504169 [GRCh38]
Chr1:241667469 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1072T>C (p.Leu358=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418450]|Hereditary leiomyomatosis and renal cell cancer [RCV005247073]|not provided [RCV002526471] Chr1:241504078 [GRCh38]
Chr1:241667378 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.668A>C (p.Lys223Thr) single nucleotide variant Fumarase deficiency [RCV001069489]|Hereditary cancer-predisposing syndrome [RCV001025534]|not provided [RCV000480081] Chr1:241508673 [GRCh38]
Chr1:241671973 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.267+1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429484]|Hereditary leiomyomatosis and renal cell cancer [RCV004022582]|not provided [RCV001782933] Chr1:241517181 [GRCh38]
Chr1:241680481 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.628G>A (p.Gly210Arg) single nucleotide variant not provided [RCV002523295] Chr1:241508713 [GRCh38]
Chr1:241672013 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.706A>G (p.Thr236Ala) single nucleotide variant not provided [RCV000482578] Chr1:241508635 [GRCh38]
Chr1:241671935 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.616G>A (p.Val206Ile) single nucleotide variant FH-related disorder [RCV004555578]|Fumarase deficiency [RCV000460134]|Fumarase deficiency [RCV005018749]|Hereditary cancer-predisposing syndrome [RCV001024965]|not provided [RCV001591075] Chr1:241508725 [GRCh38]
Chr1:241672025 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.259C>T (p.Arg87Cys) single nucleotide variant Fumarase deficiency [RCV000467729]|Hereditary cancer-predisposing syndrome [RCV000568361]|Hereditary leiomyomatosis and renal cell cancer [RCV004787713]|not provided [RCV001530785] Chr1:241517190 [GRCh38]
Chr1:241680490 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.658_659delinsTT (p.Ala220Leu) indel Fumarase deficiency [RCV003470406]|Hereditary cancer-predisposing syndrome [RCV001025432]|not provided [RCV002525538] Chr1:241508682..241508683 [GRCh38]
Chr1:241671982..241671983 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.556-4A>G single nucleotide variant Fumarase deficiency [RCV000475091]|Fumarase deficiency [RCV002489019]|Hereditary cancer-predisposing syndrome [RCV001024280]|Hereditary leiomyomatosis and renal cell cancer [RCV005247027]|not provided [RCV001569283]|not specified [RCV002268072] Chr1:241508789 [GRCh38]
Chr1:241672089 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1237-9C>T single nucleotide variant not provided [RCV001704566]|not specified [RCV002268100] Chr1:241500599 [GRCh38]
Chr1:241663899 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-7C>T single nucleotide variant FH-related disorder [RCV004555581]|Hereditary cancer-predisposing syndrome [RCV002255415]|Hereditary leiomyomatosis and renal cell cancer [RCV004787775]|not provided [RCV000485230] Chr1:241500597 [GRCh38]
Chr1:241663897 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.823G>A (p.Gly275Arg) single nucleotide variant not provided [RCV002525542] Chr1:241506084 [GRCh38]
Chr1:241669384 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.267A>C (p.Pro89=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016292]|not provided [RCV002525539]|not specified [RCV000616079] Chr1:241517182 [GRCh38]
Chr1:241680482 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.473G>A (p.Ser158Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004619295]|not provided [RCV000498842]|not specified [RCV002268071] Chr1:241512049 [GRCh38]
Chr1:241675349 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NC_000001.11:g.(?_241497557)_(241504245_?)del deletion Fumarase deficiency [RCV000464442] Chr1:241497557..241504245 [GRCh38]
Chr1:241660857..241667545 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.270C>T (p.Thr90=) single nucleotide variant FH-related disorder [RCV004555580]|Hereditary cancer-predisposing syndrome [RCV002256285]|Hereditary leiomyomatosis and renal cell cancer [RCV005247074]|not provided [RCV001536826]|not specified [RCV001821317] Chr1:241513711 [GRCh38]
Chr1:241677011 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.204T>A (p.Tyr68Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493845]|Hereditary leiomyomatosis and renal cell cancer [RCV003449126]|not provided [RCV001782930] Chr1:241517245 [GRCh38]
Chr1:241680545 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.679C>T (p.Gln227Ter) single nucleotide variant not provided [RCV001782932] Chr1:241508662 [GRCh38]
Chr1:241671962 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1314C>T (p.Ile438=) single nucleotide variant FH-related disorder [RCV004555579]|Hereditary cancer-predisposing syndrome [RCV000570892]|Hereditary leiomyomatosis and renal cell cancer [RCV005247071]|not provided [RCV001577054] Chr1:241500513 [GRCh38]
Chr1:241663813 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.39C>T (p.Pro13=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004022929]|Hereditary leiomyomatosis and renal cell cancer [RCV005247072]|not provided [RCV005056034] Chr1:241519684 [GRCh38]
Chr1:241682984 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.986A>G (p.Asn329Ser) single nucleotide variant FH-related disorder [RCV004555577]|Fumarase deficiency [RCV000457338]|Hereditary cancer-predisposing syndrome [RCV000574405]|not provided [RCV001591073] Chr1:241504164 [GRCh38]
Chr1:241667464 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-15CTCA[4] microsatellite Hereditary cancer-predisposing syndrome [RCV004948349]|not provided [RCV002525648] Chr1:241500593..241500594 [GRCh38]
Chr1:241663893..241663894 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity
NM_000143.4(FH):c.504del (p.Glu168fs) deletion Fumarase deficiency [RCV003464027]|Hereditary cancer-predisposing syndrome [RCV001023474]|Hereditary leiomyomatosis and renal cell cancer [RCV004023169]|not provided [RCV000484908] Chr1:241512018 [GRCh38]
Chr1:241675318 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NC_000001.11:g.(?_241497557)_(241519785_?)del deletion Fumarase deficiency [RCV000457660] Chr1:241497557..241519785 [GRCh38]
Chr1:241660857..241683085 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1484_1488del (p.Glu495fs) microsatellite not provided [RCV002523297] Chr1:241497873..241497877 [GRCh38]
Chr1:241661173..241661177 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1445T>G (p.Leu482Ter) single nucleotide variant Fumarase deficiency [RCV003464036]|Hereditary cancer-predisposing syndrome [RCV003168979]|not provided [RCV000485484] Chr1:241497916 [GRCh38]
Chr1:241661216 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.207C>T (p.Gly69=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562985]|Hereditary leiomyomatosis and renal cell cancer [RCV005247028]|not provided [RCV001584138]|not specified [RCV004596187] Chr1:241517242 [GRCh38]
Chr1:241680542 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_000143.4(FH):c.1508_1509insCAAACC (p.Pro503_Lys504dup) insertion not provided [RCV002523293] Chr1:241497852..241497853 [GRCh38]
Chr1:241661152..241661153 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.905-10T>G single nucleotide variant not provided [RCV005208918] Chr1:241504255 [GRCh38]
Chr1:241667555 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.655G>A (p.Asp219Asn) single nucleotide variant Fumarase deficiency [RCV000472774]|Hereditary cancer-predisposing syndrome [RCV001025411]|Hereditary leiomyomatosis and renal cell cancer [RCV001098958]|not provided [RCV002523294]|not specified [RCV003320643] Chr1:241508686 [GRCh38]
Chr1:241671986 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.566A>T (p.Asp189Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350049]|not provided [RCV000478475] Chr1:241508775 [GRCh38]
Chr1:241672075 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1405G>A (p.Ala469Thr) single nucleotide variant Fumarase deficiency [RCV000457993]|Hereditary cancer-predisposing syndrome [RCV004948311]|not provided [RCV002525543] Chr1:241497956 [GRCh38]
Chr1:241661256 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.399T>C (p.Asn133=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563998]|Hereditary leiomyomatosis and renal cell cancer [RCV005247078]|not provided [RCV001554936]|not specified [RCV002268101] Chr1:241512123 [GRCh38]
Chr1:241675423 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.556-5A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348289]|Hereditary leiomyomatosis and renal cell cancer [RCV005247026]|not provided [RCV002525537] Chr1:241508790 [GRCh38]
Chr1:241672090 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.611A>G (p.His204Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004619294]|not provided [RCV002525540] Chr1:241508730 [GRCh38]
Chr1:241672030 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1347del (p.Met449fs) deletion Hereditary cancer-predisposing syndrome [RCV003338596]|not provided [RCV002526399] Chr1:241500480 [GRCh38]
Chr1:241663780 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.288T>C (p.Phe96=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436483]|Hereditary leiomyomatosis and renal cell cancer [RCV005247076]|not provided [RCV002525649] Chr1:241513693 [GRCh38]
Chr1:241676993 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1157A>G (p.Gln386Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562894]|Hereditary leiomyomatosis and renal cell cancer [RCV004017625]|not provided [RCV001551727] Chr1:241502522 [GRCh38]
Chr1:241665822 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1021G>A (p.Asp341Asn) single nucleotide variant not provided [RCV002274031] Chr1:241504129 [GRCh38]
Chr1:241667429 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1109-7C>T single nucleotide variant Fumarase deficiency [RCV000476829]|Hereditary leiomyomatosis and renal cell cancer [RCV001100670]|not provided [RCV002525650] Chr1:241502577 [GRCh38]
Chr1:241665877 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1237-10_1237-9dup duplication not provided [RCV002526474] Chr1:241500598..241500599 [GRCh38]
Chr1:241663898..241663899 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs) duplication Hereditary cancer-predisposing syndrome [RCV004023175]|Hereditary leiomyomatosis and renal cell cancer [RCV003139683]|not provided [RCV000478909] Chr1:241500490..241500491 [GRCh38]
Chr1:241663790..241663791 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1391-2del deletion not provided [RCV000486287] Chr1:241497972 [GRCh38]
Chr1:241661272 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1237-13_1237-12insTT insertion not provided [RCV001704591] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.647A>T (p.Asp216Val) single nucleotide variant Fumarase deficiency [RCV000531582]|Hereditary cancer-predisposing syndrome [RCV003302803]|not provided [RCV002527734] Chr1:241508694 [GRCh38]
Chr1:241671994 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.560C>A (p.Ser187Ter) single nucleotide variant not provided [RCV001782935] Chr1:241508781 [GRCh38]
Chr1:241672081 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1112del (p.Lys371fs) deletion not provided [RCV001782934] Chr1:241502567 [GRCh38]
Chr1:241665867 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.814C>A (p.Leu272Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574968]|not provided [RCV001770311] Chr1:241506093 [GRCh38]
Chr1:241669393 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.620T>C (p.Leu207Pro) single nucleotide variant not provided [RCV002526398] Chr1:241508721 [GRCh38]
Chr1:241672021 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1433A>G (p.Asn478Ser) single nucleotide variant Fumarase deficiency [RCV000462215]|Hereditary cancer-predisposing syndrome [RCV002393092]|not provided [RCV003103776] Chr1:241497928 [GRCh38]
Chr1:241661228 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1237-5C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367586]|Hereditary leiomyomatosis and renal cell cancer [RCV005247077]|not provided [RCV002526473] Chr1:241500595 [GRCh38]
Chr1:241663895 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1308G>A (p.Val436=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256284]|Hereditary leiomyomatosis and renal cell cancer [RCV003316582]|not provided [RCV001653838] Chr1:241500519 [GRCh38]
Chr1:241663819 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.670G>A (p.Glu224Lys) single nucleotide variant not provided [RCV002523296] Chr1:241508671 [GRCh38]
Chr1:241671971 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.925C>T (p.Pro309Ser) single nucleotide variant Fumarase deficiency [RCV004567964]|Hereditary cancer-predisposing syndrome [RCV000571863]|not provided [RCV001591074] Chr1:241504225 [GRCh38]
Chr1:241667525 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.268-2A>G single nucleotide variant Fumarase deficiency [RCV001390078]|Hereditary cancer-predisposing syndrome [RCV003168943]|Hereditary leiomyomatosis and renal cell cancer [RCV003449186]|not provided [RCV000487137] Chr1:241513715 [GRCh38]
Chr1:241677015 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1 copy number loss See cases [RCV000512075] Chr1:240620284..247690417 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_000143.4(FH):c.738+2T>C single nucleotide variant Fumarase deficiency [RCV000458630]|Hereditary cancer-predisposing syndrome [RCV003278809]|not provided [RCV001577061] Chr1:241508601 [GRCh38]
Chr1:241671901 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.555+5G>C single nucleotide variant Fumarase deficiency [RCV005018836]|not provided [RCV000498964] Chr1:241511962 [GRCh38]
Chr1:241675262 [GRCh37]
Chr1:1q43		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
NM_000143.4(FH):c.1250T>G (p.Leu417Ter) single nucleotide variant not provided [RCV000497497] Chr1:241500577 [GRCh38]
Chr1:241663877 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.527A>G (p.His176Arg) single nucleotide variant Fumarase deficiency [RCV001196074]|not provided [RCV000498190] Chr1:241511995 [GRCh38]
Chr1:241675295 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.739G>T (p.Glu247Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493486]|not provided [RCV001782986] Chr1:241506168 [GRCh38]
Chr1:241669468 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1439C>G (p.Ser480Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493518]|not provided [RCV003103996] Chr1:241497922 [GRCh38]
Chr1:241661222 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.879del (p.Ala294fs) deletion not provided [RCV000493606] Chr1:241506028 [GRCh38]
Chr1:241669328 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.2T>G (p.Met1Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493638]|not provided [RCV002524006] Chr1:241519721 [GRCh38]
Chr1:241683021 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.587A>G (p.His196Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493685] Chr1:241508754 [GRCh38]
Chr1:241672054 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.379-2A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493792]|not provided [RCV005091039] Chr1:241512145 [GRCh38]
Chr1:241675445 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.450T>A (p.Asn150Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493891]|not provided [RCV002524008] Chr1:241512072 [GRCh38]
Chr1:241675372 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.62C>G (p.Ala21Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493959]|not provided [RCV003558399] Chr1:241519661 [GRCh38]
Chr1:241682961 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.702T>G (p.Thr234=) single nucleotide variant Fumarase deficiency [RCV001083333]|Hereditary cancer-predisposing syndrome [RCV000494047]|Hereditary leiomyomatosis and renal cell cancer [RCV005248074]|not provided [RCV000827769]|not specified [RCV005230969] Chr1:241508639 [GRCh38]
Chr1:241671939 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_000143.4(FH):c.1256C>T (p.Ser419Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000494270]|not provided [RCV002524009] Chr1:241500571 [GRCh38]
Chr1:241663871 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.563del (p.Asn188fs) deletion Fumarase deficiency [RCV003470611]|Hereditary cancer-predisposing syndrome [RCV000494308] Chr1:241508778 [GRCh38]
Chr1:241672078 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.174_177dup (p.Leu60Ter) duplication Hereditary cancer-predisposing syndrome [RCV000494321]|not provided [RCV002524010] Chr1:241517271..241517272 [GRCh38]
Chr1:241680571..241680572 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.556A>T (p.Ser186Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000494364] Chr1:241508785 [GRCh38]
Chr1:241672085 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.689A>G (p.Lys230Arg) single nucleotide variant Fumarase deficiency [RCV003464063]|Hereditary cancer-predisposing syndrome [RCV000494410]|not provided [RCV001782983] Chr1:241508652 [GRCh38]
Chr1:241671952 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.134del (p.Ala45fs) deletion Hereditary cancer-predisposing syndrome [RCV000494432] Chr1:241517315 [GRCh38]
Chr1:241680615 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1052C>G (p.Ser351Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000494465]|not provided [RCV001782982] Chr1:241504098 [GRCh38]
Chr1:241667398 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1349_1352dup (p.Glu451_Ser452insTer) microsatellite Hereditary cancer-predisposing syndrome [RCV000494640] Chr1:241500474..241500475 [GRCh38]
Chr1:241663774..241663775 [GRCh37]
Chr1:1q43		 pathogenic
Single allele variation not specified [RCV000506835] Chr1:241500598..241500599 [GRCh38]
Chr1:241663899..241663900 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1094G>A (p.Ser365Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493020]|not provided [RCV002527073] Chr1:241504056 [GRCh38]
Chr1:241667356 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.757C>T (p.Gln253Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493068] Chr1:241506150 [GRCh38]
Chr1:241669450 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.378+2T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493124] Chr1:241513601 [GRCh38]
Chr1:241676901 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1198A>G (p.Asn400Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493140] Chr1:241502481 [GRCh38]
Chr1:241665781 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1236+1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493187]|not provided [RCV002524011] Chr1:241502442 [GRCh38]
Chr1:241665742 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.805del (p.Ile269fs) deletion Hereditary cancer-predisposing syndrome [RCV000493233]|not provided [RCV002524005] Chr1:241506102 [GRCh38]
Chr1:241669402 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.3(FH):c.556_557delAG microsatellite Hereditary cancer-predisposing syndrome [RCV000493280]|not provided [RCV000493881] Chr1:241508784..241508785 [GRCh38]
Chr1:241672084..241672085 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.132+5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493339]|not provided [RCV002524007] Chr1:241519586 [GRCh38]
Chr1:241682886 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.1391G>A (p.Gly464Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493404]|not specified [RCV005230970] Chr1:241497970 [GRCh38]
Chr1:241661270 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
NM_000143.4(FH):c.514A>G (p.Lys172Glu) single nucleotide variant Fumarase deficiency [RCV000548223]|Hereditary cancer-predisposing syndrome [RCV002341290]|not provided [RCV002528329] Chr1:241512008 [GRCh38]
Chr1:241675308 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_000143.4(FH):c.555+1G>A single nucleotide variant Fumarase deficiency [RCV003464109]|Hereditary cancer-predisposing syndrome [RCV005338213]|not provided [RCV000522660] Chr1:241511966 [GRCh38]
Chr1:241675266 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.444G>A (p.Gln148=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330848]|not provided [RCV002527728] Chr1:241512078 [GRCh38]
Chr1:241675378 [GRCh37]
Chr1:1q43		 likely benign
NC_000001.10:g.(?_241661122)_(241683028_?)dup duplication Fumarase deficiency [RCV000541848] Chr1:241497822..241519728 [GRCh38]
Chr1:241661122..241683028 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.639G>A (p.Lys213=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367802]|Hereditary leiomyomatosis and renal cell cancer [RCV005248181]|not provided [RCV000842699] Chr1:241508702 [GRCh38]
Chr1:241672002 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.593C>G (p.Ala198Gly) single nucleotide variant Fumarase deficiency [RCV005018971]|Hereditary cancer-predisposing syndrome [RCV000575434]|not provided [RCV001764648] Chr1:241508748 [GRCh38]
Chr1:241672048 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1293A>G (p.Thr431=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575728]|Hereditary leiomyomatosis and renal cell cancer [RCV005248292]|not provided [RCV002526906] Chr1:241500534 [GRCh38]
Chr1:241663834 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1371A>G (p.Thr457=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003300896]|not provided [RCV003777115] Chr1:241500456 [GRCh38]
Chr1:241663756 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.897A>G (p.Ala299=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000576008]|not provided [RCV002530337] Chr1:241506010 [GRCh38]
Chr1:241669310 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.634C>T (p.Gln212Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004023831]|not provided [RCV001783040] Chr1:241508707 [GRCh38]
Chr1:241672007 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.78C>T (p.Pro26=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026931]|Hereditary leiomyomatosis and renal cell cancer [RCV005248433]|not provided [RCV001707819] Chr1:241519645 [GRCh38]
Chr1:241682945 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.816C>T (p.Leu272=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027240]|Hereditary leiomyomatosis and renal cell cancer [RCV005248441]|not provided [RCV001698468]|not specified [RCV002268218] Chr1:241506091 [GRCh38]
Chr1:241669391 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1277C>A (p.Ala426Asp) single nucleotide variant not provided [RCV002528324] Chr1:241500550 [GRCh38]
Chr1:241663850 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.525G>A (p.Val175=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341291]|not provided [RCV002527730] Chr1:241511997 [GRCh38]
Chr1:241675297 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.552C>T (p.Ser184=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024233]|Hereditary leiomyomatosis and renal cell cancer [RCV005248180]|not provided [RCV001613345] Chr1:241511970 [GRCh38]
Chr1:241675270 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1130G>A (p.Cys377Tyr) single nucleotide variant Fumarase deficiency [RCV000635286]|Hereditary cancer-predisposing syndrome [RCV004619358] Chr1:241502549 [GRCh38]
Chr1:241665849 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.5A>G (p.Tyr2Cys) single nucleotide variant Fumarase deficiency [RCV003459516]|Hereditary cancer-predisposing syndrome [RCV002358784]|not provided [RCV002529839] Chr1:241519718 [GRCh38]
Chr1:241683018 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.999C>A (p.Cys333Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386006]|Hereditary leiomyomatosis and renal cell cancer [RCV004791651]|not provided [RCV002529840] Chr1:241504151 [GRCh38]
Chr1:241667451 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1384C>T (p.His462Tyr) single nucleotide variant Fumarase deficiency [RCV000635290]|Hereditary cancer-predisposing syndrome [RCV002388028]|not provided [RCV002529841] Chr1:241500443 [GRCh38]
Chr1:241663743 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1036G>A (p.Gly346Ser) single nucleotide variant not provided [RCV002529842] Chr1:241504114 [GRCh38]
Chr1:241667414 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1082del (p.Asn361fs) deletion Fumarase deficiency [RCV000635303]|Hereditary cancer-predisposing syndrome [RCV004948493] Chr1:241504068 [GRCh38]
Chr1:241667368 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.919del (p.Thr307fs) deletion Hereditary cancer-predisposing syndrome [RCV004948494]|not provided [RCV002529843] Chr1:241504231 [GRCh38]
Chr1:241667531 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1236+1G>A single nucleotide variant not provided [RCV002529844] Chr1:241502442 [GRCh38]
Chr1:241665742 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1481C>G (p.Ala494Gly) single nucleotide variant not provided [RCV002533198] Chr1:241497880 [GRCh38]
Chr1:241661180 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.40C>T (p.Leu14Phe) single nucleotide variant Fumarase deficiency [RCV000635308]|Hereditary cancer-predisposing syndrome [RCV002325224]|not provided [RCV002509481] Chr1:241519683 [GRCh38]
Chr1:241682983 [GRCh37]
Chr1:1q43		 conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.994G>A (p.Ala332Thr) single nucleotide variant Fumarase deficiency [RCV000635309]|Hereditary cancer-predisposing syndrome [RCV001019941]|not provided [RCV003103816] Chr1:241504156 [GRCh38]
Chr1:241667456 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1421C>T (p.Thr474Ile) single nucleotide variant Fumarase deficiency [RCV000635283]|Hereditary cancer-predisposing syndrome [RCV001011509]|not provided [RCV002529838] Chr1:241497940 [GRCh38]
Chr1:241661240 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1322A>G (p.Asn441Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948495]|not provided [RCV002529846] Chr1:241500505 [GRCh38]
Chr1:241663805 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1119C>T (p.Asn373=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438678]|Hereditary leiomyomatosis and renal cell cancer [RCV005248994]|not provided [RCV002529847] Chr1:241502560 [GRCh38]
Chr1:241665860 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000143.4(FH):c.556-7C>T single nucleotide variant not provided [RCV002533199] Chr1:241508792 [GRCh38]
Chr1:241672092 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.228G>C (p.Thr76=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015081]|Hereditary leiomyomatosis and renal cell cancer [RCV005248995]|not provided [RCV002529848] Chr1:241517221 [GRCh38]
Chr1:241680521 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1066T>C (p.Leu356=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406359]|Hereditary leiomyomatosis and renal cell cancer [RCV005248996]|not provided [RCV002533200] Chr1:241504084 [GRCh38]
Chr1:241667384 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1503A>G (p.Val501=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011928]|Hereditary leiomyomatosis and renal cell cancer [RCV005248997]|not provided [RCV002528878] Chr1:241497858 [GRCh38]
Chr1:241661158 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.379-7dup duplication Hereditary leiomyomatosis and renal cell cancer [RCV004788051]|not provided [RCV002528879] Chr1:241512149..241512150 [GRCh38]
Chr1:241675449..241675450 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.33G>A (p.Ser11=) single nucleotide variant FH-related disorder [RCV004555591]|Hereditary cancer-predisposing syndrome [RCV004025460]|Hereditary leiomyomatosis and renal cell cancer [RCV005248998]|not provided [RCV002528880] Chr1:241519690 [GRCh38]
Chr1:241682990 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1379A>G (p.Asn460Ser) single nucleotide variant Fumarase deficiency [RCV000536299]|Hereditary cancer-predisposing syndrome [RCV003159781]|not provided [RCV002527720]|not specified [RCV004596240] Chr1:241500448 [GRCh38]
Chr1:241663748 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.48G>T (p.Arg16=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023232]|Hereditary leiomyomatosis and renal cell cancer [RCV005248177]|not provided [RCV002527729] Chr1:241519675 [GRCh38]
Chr1:241682975 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.830C>G (p.Thr277Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431570]|not provided [RCV001755818] Chr1:241506077 [GRCh38]
Chr1:241669377 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.194A>T (p.Asp65Val) single nucleotide variant Fumarase deficiency [RCV002491134]|Fumarase deficiency [RCV004569263]|Hereditary cancer-predisposing syndrome [RCV000574732]|not provided [RCV002530335] Chr1:241517255 [GRCh38]
Chr1:241680555 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1127_1128del (p.Gln376fs) deletion Hereditary cancer-predisposing syndrome [RCV005335754]|Hereditary leiomyomatosis and renal cell cancer [RCV003316944]|not provided [RCV005102873] Chr1:241502551..241502552 [GRCh38]
Chr1:241665851..241665852 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1461C>T (p.Ile487=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011694]|Hereditary leiomyomatosis and renal cell cancer [RCV005248172]|not provided [RCV002527722] Chr1:241497900 [GRCh38]
Chr1:241661200 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1251dup (p.His418fs) duplication not provided [RCV002527718] Chr1:241500575..241500576 [GRCh38]
Chr1:241663875..241663876 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1520T>C (p.Leu507Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395536]|Hereditary leiomyomatosis and renal cell cancer [RCV003336091]|not provided [RCV000597494] Chr1:241497841 [GRCh38]
Chr1:241661141 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.-17C>T single nucleotide variant not specified [RCV000615431] Chr1:241519739 [GRCh38]
Chr1:241683039 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.700A>C (p.Thr234Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005338230]|not provided [RCV002527738] Chr1:241508641 [GRCh38]
Chr1:241671941 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.1305G>A (p.Val435=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385939]|Hereditary leiomyomatosis and renal cell cancer [RCV005248442]|not provided [RCV002528686]|not specified [RCV000610310] Chr1:241500522 [GRCh38]
Chr1:241663822 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.4T>C (p.Tyr2His) single nucleotide variant FH-related disorder [RCV004555584]|Fumarase deficiency [RCV003459206]|Hereditary cancer-predisposing syndrome [RCV001023401]|Hereditary leiomyomatosis and renal cell cancer [RCV004787852]|not provided [RCV001662540] Chr1:241519719 [GRCh38]
Chr1:241683019 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.-10C>T single nucleotide variant FH-related disorder [RCV004555589]|not provided [RCV003478327]|not specified [RCV000602274] Chr1:241519732 [GRCh38]
Chr1:241683032 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1366G>C (p.Val456Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569843]|not provided [RCV002530336] Chr1:241500461 [GRCh38]
Chr1:241663761 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.-3A>G single nucleotide variant FH-related disorder [RCV004555588]|Hereditary cancer-predisposing syndrome [RCV001021620]|Hereditary leiomyomatosis and renal cell cancer [RCV005248418]|not provided [RCV001697448]|not specified [RCV003320713] Chr1:241519725 [GRCh38]
Chr1:241683025 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.782G>T (p.Arg261Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570420]|not provided [RCV002528982] Chr1:241506125 [GRCh38]
Chr1:241669425 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.674T>C (p.Phe225Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367803]|not provided [RCV002527736] Chr1:241508667 [GRCh38]
Chr1:241671967 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.739-13_739-11del deletion not specified [RCV000608444] Chr1:241506179..241506181 [GRCh38]
Chr1:241669479..241669481 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.153G>A (p.Arg51=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404404]|Hereditary leiomyomatosis and renal cell cancer [RCV005248173]|not provided [RCV002527724] Chr1:241517296 [GRCh38]
Chr1:241680596 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.133-3T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011105]|Hereditary leiomyomatosis and renal cell cancer [RCV005248439]|not provided [RCV001698486] Chr1:241517319 [GRCh38]
Chr1:241680619 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.30C>G (p.Arg10=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311062] Chr1:241519693 [GRCh38]
Chr1:241682993 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1319C>G (p.Ala440Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311063] Chr1:241500508 [GRCh38]
Chr1:241663808 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1109G>A (p.Gly370Asp) single nucleotide variant not provided [RCV002533196] Chr1:241502570 [GRCh38]
Chr1:241665870 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.977G>A (p.Gly326Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386007]|Hereditary leiomyomatosis and renal cell cancer [RCV003451511]|not provided [RCV002533197] Chr1:241504173 [GRCh38]
Chr1:241667473 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.991dup (p.Thr331fs) duplication not provided [RCV003539989] Chr1:241504158..241504159 [GRCh38]
Chr1:241667458..241667459 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1028del (p.Arg343fs) deletion not provided [RCV001784208] Chr1:241504122 [GRCh38]
Chr1:241667422 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1391G>T (p.Gly464Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388029]|not provided [RCV002528874] Chr1:241497970 [GRCh38]
Chr1:241661270 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.1270G>A (p.Gly424Arg) single nucleotide variant Fumarase deficiency [RCV000635297]|not provided [RCV002528875] Chr1:241500557 [GRCh38]
Chr1:241663857 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.935T>G (p.Phe312Cys) single nucleotide variant not provided [RCV001784209] Chr1:241504215 [GRCh38]
Chr1:241667515 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1447A>C (p.Lys483Gln) single nucleotide variant Fumarase deficiency [RCV000635302]|Hereditary cancer-predisposing syndrome [RCV002388030]|Hereditary leiomyomatosis and renal cell cancer [RCV003325208]|not provided [RCV001591415] Chr1:241497914 [GRCh38]
Chr1:241661214 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1306G>T (p.Val436Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003352952]|not provided [RCV002529845] Chr1:241500521 [GRCh38]
Chr1:241663821 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.731T>C (p.Leu244Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386008]|not provided [RCV003539990] Chr1:241508610 [GRCh38]
Chr1:241671910 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.568_569del (p.Thr190fs) deletion Hereditary cancer-predisposing syndrome [RCV001024403]|not provided [RCV002528876] Chr1:241508772..241508773 [GRCh38]
Chr1:241672072..241672073 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.41T>C (p.Leu14Pro) single nucleotide variant Fumarase deficiency [RCV000635314]|Hereditary cancer-predisposing syndrome [RCV002331135]|Hereditary leiomyomatosis and renal cell cancer [RCV003333754]|not provided [RCV002508241] Chr1:241519682 [GRCh38]
Chr1:241682982 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.166A>G (p.Thr56Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003352953]|not provided [RCV002528877]|not specified [RCV003493684] Chr1:241517283 [GRCh38]
Chr1:241680583 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.998G>A (p.Cys333Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386009]|not provided [RCV001784211] Chr1:241504152 [GRCh38]
Chr1:241667452 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1086A>G (p.Glu362=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424393]|Hereditary leiomyomatosis and renal cell cancer [RCV005248999]|not provided [RCV002528881] Chr1:241504064 [GRCh38]
Chr1:241667364 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.443dup (p.Thr149fs) duplication not provided [RCV000657292] Chr1:241512078..241512079 [GRCh38]
Chr1:241675378..241675379 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.172G>A (p.Gly58Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012881]|not provided [RCV001731888] Chr1:241517277 [GRCh38]
Chr1:241680577 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1157A>C (p.Gln386Pro) single nucleotide variant not provided [RCV001781103] Chr1:241502522 [GRCh38]
Chr1:241665822 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.452T>G (p.Met151Arg) single nucleotide variant not provided [RCV001781107] Chr1:241512070 [GRCh38]
Chr1:241675370 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.353del (p.Asn118fs) deletion Hereditary cancer-predisposing syndrome [RCV001020556]|Hereditary leiomyomatosis and renal cell cancer [RCV004026458]|not provided [RCV002533543] Chr1:241513628 [GRCh38]
Chr1:241676928 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.517A>T (p.Ile173Leu) single nucleotide variant Fumarase deficiency [RCV000699131]|Hereditary cancer-predisposing syndrome [RCV005338322]|not provided [RCV002534369] Chr1:241512005 [GRCh38]
Chr1:241675305 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44		 pathogenic
GRCh37/hg19 1q43(chr1:240958055-243698867)x3 copy number gain not provided [RCV000684715] Chr1:240958055..243698867 [GRCh37]
Chr1:1q43		 likely pathogenic
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 copy number loss not provided [RCV000684716] Chr1:241051170..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_000143.4(FH):c.1118A>T (p.Asn373Ile) single nucleotide variant Fumarase deficiency [RCV000701529] Chr1:241502561 [GRCh38]
Chr1:241665861 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1390+2T>C single nucleotide variant Fumarase deficiency [RCV003465624]|Hereditary cancer-predisposing syndrome [RCV002388323]|Hereditary leiomyomatosis and renal cell cancer [RCV003456135]|not provided [RCV002533667] Chr1:241500435 [GRCh38]
Chr1:241663735 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.500G>T (p.Gly167Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334365]|not provided [RCV002534406] Chr1:241512022 [GRCh38]
Chr1:241675322 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1204C>T (p.His402Tyr) single nucleotide variant Fumarase deficiency [RCV000698203]|Hereditary cancer-predisposing syndrome [RCV002343499]|not provided [RCV002533514] Chr1:241502475 [GRCh38]
Chr1:241665775 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.232A>C (p.Asn78His) single nucleotide variant not provided [RCV002533555] Chr1:241517217 [GRCh38]
Chr1:241680517 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.611A>T (p.His204Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352107]|not provided [RCV002544714] Chr1:241508730 [GRCh38]
Chr1:241672030 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.201T>G (p.Tyr67Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422551]|Hereditary leiomyomatosis and renal cell cancer [RCV003316800]|not provided [RCV001784335] Chr1:241517248 [GRCh38]
Chr1:241680548 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.35G>T (p.Arg12Leu) single nucleotide variant Fumarase deficiency [RCV000700942]|Hereditary cancer-predisposing syndrome [RCV001020691]|not provided [RCV001771986] Chr1:241519688 [GRCh38]
Chr1:241682988 [GRCh37]
Chr1:1q43		 conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.521C>A (p.Pro174His) single nucleotide variant not provided [RCV002533626] Chr1:241512001 [GRCh38]
Chr1:241675301 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.581C>A (p.Ala194Glu) single nucleotide variant not provided [RCV002531461] Chr1:241508760 [GRCh38]
Chr1:241672060 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1478C>A (p.Thr493Lys) single nucleotide variant not provided [RCV002532863] Chr1:241497883 [GRCh38]
Chr1:241661183 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1205del (p.His402fs) deletion not provided [RCV002536351] Chr1:241502474 [GRCh38]
Chr1:241665774 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1138del (p.Ala379_Met380insTer) deletion Hereditary cancer-predisposing syndrome [RCV004025153]|not provided [RCV001784319] Chr1:241502541 [GRCh38]
Chr1:241665841 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.65T>A (p.Leu22Ter) single nucleotide variant Fumarase deficiency [RCV003460938]|Hereditary cancer-predisposing syndrome [RCV003163189]|not provided [RCV001771965] Chr1:241519658 [GRCh38]
Chr1:241682958 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.417G>A (p.Val139=) single nucleotide variant Fumarase deficiency [RCV003460940]|Hereditary cancer-predisposing syndrome [RCV002332453]|not provided [RCV002532286] Chr1:241512105 [GRCh38]
Chr1:241675405 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.442C>T (p.Gln148Ter) single nucleotide variant not provided [RCV001784340] Chr1:241512080 [GRCh38]
Chr1:241675380 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.11:g.(?_241505993)_(241506178_?)del deletion not provided [RCV003103833] Chr1:241505993..241506178 [GRCh38]
Chr1:241669293..241669478 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.10:g.(?_241661118)_(241683032_?)dup duplication Fumarase deficiency [RCV000708073] Chr1:241497818..241519732 [GRCh38]
Chr1:241661118..241683032 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.664T>A (p.Ser222Thr) single nucleotide variant B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified [RCV000761058]|Fumarase deficiency [RCV000699536]|Hepatoblastoma [RCV001843543]|Hereditary cancer-predisposing syndrome [RCV002360790]|not provided [RCV002533564]|not specified [RCV001816725] Chr1:241508677 [GRCh38]
Chr1:241671977 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1286C>G (p.Ser429Cys) single nucleotide variant not provided [RCV002534456] Chr1:241500541 [GRCh38]
Chr1:241663841 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1354T>A (p.Ser452Thr) single nucleotide variant Fumarase deficiency [RCV000686337]|Hereditary cancer-predisposing syndrome [RCV002386167]|Hereditary leiomyomatosis and renal cell cancer [RCV004788115]|not provided [RCV002544745] Chr1:241500473 [GRCh38]
Chr1:241663773 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.497G>A (p.Gly166Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005338307]|not provided [RCV002544752] Chr1:241512025 [GRCh38]
Chr1:241675325 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.301_319del (p.Arg101fs) deletion Hereditary cancer-predisposing syndrome [RCV001018055]|Hereditary leiomyomatosis and renal cell cancer [RCV003336138]|not provided [RCV002544854] Chr1:241513662..241513680 [GRCh38]
Chr1:241676962..241676980 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1195A>G (p.Ser399Gly) single nucleotide variant Fumarase deficiency [RCV003465559]|Hereditary cancer-predisposing syndrome [RCV002334258]|not provided [RCV002509510] Chr1:241502484 [GRCh38]
Chr1:241665784 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.80G>C (p.Gly27Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422500]|not provided [RCV002532214] Chr1:241519643 [GRCh38]
Chr1:241682943 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.555+4A>G single nucleotide variant Fumarase deficiency [RCV000692469]|Hereditary cancer-predisposing syndrome [RCV001024262]|not provided [RCV001771957]|not specified [RCV002268252] Chr1:241511963 [GRCh38]
Chr1:241675263 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.556-2A>G single nucleotide variant not provided [RCV002534465] Chr1:241508787 [GRCh38]
Chr1:241672087 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.90C>T (p.Gly30=) single nucleotide variant Fumarase deficiency [RCV000689932]|Hereditary cancer-predisposing syndrome [RCV004948584]|Hereditary leiomyomatosis and renal cell cancer [RCV005249022]|not provided [RCV002544858] Chr1:241519633 [GRCh38]
Chr1:241682933 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_000143.4(FH):c.245G>A (p.Gly82Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005328364]|not provided [RCV002533711] Chr1:241517204 [GRCh38]
Chr1:241680504 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.1398C>G (p.Asp466Glu) single nucleotide variant Fumarase deficiency [RCV000693306]|not provided [RCV002532233] Chr1:241497963 [GRCh38]
Chr1:241661263 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.974G>C (p.Ser325Thr) single nucleotide variant Fumarase deficiency [RCV000695514]|Hereditary cancer-predisposing syndrome [RCV001019701]|not provided [RCV002532308] Chr1:241504176 [GRCh38]
Chr1:241667476 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1330A>G (p.Arg444Gly) single nucleotide variant Fumarase deficiency [RCV000695735]|Hereditary cancer-predisposing syndrome [RCV004619392]|not provided [RCV002532321] Chr1:241500497 [GRCh38]
Chr1:241663797 [GRCh37]
Chr1:1q43		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.687C>G (p.Ile229Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360738]|not provided [RCV002547160] Chr1:241508654 [GRCh38]
Chr1:241671954 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1282G>C (p.Val428Leu) single nucleotide variant Fumarase deficiency [RCV000705052]|Hereditary cancer-predisposing syndrome [RCV004026682]|not provided [RCV002533725] Chr1:241500545 [GRCh38]
Chr1:241663845 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.185_188dup (p.Asn64fs) duplication not provided [RCV002532876] Chr1:241517260..241517261 [GRCh38]
Chr1:241680560..241680561 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.554A>C (p.Gln185Pro) single nucleotide variant not provided [RCV002534328] Chr1:241511968 [GRCh38]
Chr1:241675268 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.14T>C (p.Leu5Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388217]|not provided [RCV002544830] Chr1:241519709 [GRCh38]
Chr1:241683009 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1035G>A (p.Leu345=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948604]|not provided [RCV002533440] Chr1:241504115 [GRCh38]
Chr1:241667415 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.552C>G (p.Ser184Arg) single nucleotide variant not provided [RCV002536398] Chr1:241511970 [GRCh38]
Chr1:241675270 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1351G>T (p.Glu451Ter) single nucleotide variant not provided [RCV001784332] Chr1:241500476 [GRCh38]
Chr1:241663776 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.545A>G (p.Asn182Ser) single nucleotide variant not provided [RCV002544920] Chr1:241511977 [GRCh38]
Chr1:241675277 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.46C>T (p.Arg16Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334348]|not provided [RCV002533605] Chr1:241519677 [GRCh38]
Chr1:241682977 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.11:g.(?_241519585)_(241519728_?)del deletion Fumarase deficiency [RCV000708542] Chr1:241519585..241519728 [GRCh38]
Chr1:241682885..241683028 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.988A>C (p.Thr330Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019860]|Hereditary leiomyomatosis and renal cell cancer [RCV005414266]|not provided [RCV002534338] Chr1:241504162 [GRCh38]
Chr1:241667462 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.1237-4A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004039289]|Hereditary leiomyomatosis and renal cell cancer [RCV005247282]|not provided [RCV001548218] Chr1:241500594 [GRCh38]
Chr1:241663894 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 copy number loss not provided [RCV000749402] Chr1:236617216..244515378 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q43(chr1:241646582-241711701)x3 copy number gain not provided [RCV000749412] Chr1:241646582..241711701 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.904+54G>A single nucleotide variant not provided [RCV001609505] Chr1:241505949 [GRCh38]
Chr1:241669249 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.268-22A>T single nucleotide variant not provided [RCV001534479]|not specified [RCV001703118] Chr1:241513735 [GRCh38]
Chr1:241677035 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.171T>C (p.Phe57=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004029687]|not provided [RCV005092860] Chr1:241517278 [GRCh38]
Chr1:241680578 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1212G>A (p.Glu404=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169507]|Hereditary leiomyomatosis and renal cell cancer [RCV005249448]|not provided [RCV003656657] Chr1:241502467 [GRCh38]
Chr1:241665767 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.602T>C (p.Ile201Thr) single nucleotide variant Fumarase deficiency [RCV004570207]|Hereditary cancer-predisposing syndrome [RCV002355040]|not provided [RCV002553773] Chr1:241508739 [GRCh38]
Chr1:241672039 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.81C>T (p.Gly27=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429679]|not provided [RCV002554414] Chr1:241519642 [GRCh38]
Chr1:241682942 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.644A>T (p.His215Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255615]|not provided [RCV002553885] Chr1:241508697 [GRCh38]
Chr1:241671997 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1108+10T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249273]|not provided [RCV005208771] Chr1:241504032 [GRCh38]
Chr1:241667332 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.216C>T (p.Thr72=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427233]|Hereditary leiomyomatosis and renal cell cancer [RCV005249269]|not provided [RCV002539272]|not specified [RCV002465805] Chr1:241517233 [GRCh38]
Chr1:241680533 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.738+9G>T single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249155]|not provided [RCV002538948] Chr1:241508594 [GRCh38]
Chr1:241671894 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1056T>C (p.Gly352=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399904]|Hereditary leiomyomatosis and renal cell cancer [RCV005249180]|not provided [RCV002538989] Chr1:241504094 [GRCh38]
Chr1:241667394 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.117G>T (p.Pro39=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336822]|Hereditary leiomyomatosis and renal cell cancer [RCV005249210]|not provided [RCV002539955] Chr1:241519606 [GRCh38]
Chr1:241682906 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1237-9_1237-8insCTCT microsatellite not provided [RCV002539087] Chr1:241500598..241500599 [GRCh38]
Chr1:241663898..241663899 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.912T>G (p.Pro304=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018906]|Hereditary leiomyomatosis and renal cell cancer [RCV005249280]|not provided [RCV003657887] Chr1:241504238 [GRCh38]
Chr1:241667538 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1299C>T (p.Asn433=) single nucleotide variant Fumarase deficiency [RCV000868750]|Hereditary cancer-predisposing syndrome [RCV001010585]|Hereditary leiomyomatosis and renal cell cancer [RCV005249187]|not provided [RCV001593084]|not specified [RCV005231918] Chr1:241500528 [GRCh38]
Chr1:241663828 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.765A>G (p.Val255=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026674]|Hereditary leiomyomatosis and renal cell cancer [RCV005249281]|not provided [RCV002540109] Chr1:241506142 [GRCh38]
Chr1:241669442 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.178C>T (p.Leu60=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399909]|Hereditary leiomyomatosis and renal cell cancer [RCV005249185]|not provided [RCV002536782]|not specified [RCV003493752] Chr1:241517271 [GRCh38]
Chr1:241680571 [GRCh37]
Chr1:1q43		 benign|likely benign
NC_000001.10:g.(?_241661128)_(242034263_?)dup duplication Fumarase deficiency [RCV001033301] Chr1:241661128..242034263 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.935T>C (p.Phe312Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445265]|not provided [RCV001558848] Chr1:241504215 [GRCh38]
Chr1:241667515 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1348A>G (p.Asn450Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004619490]|not provided [RCV002553223] Chr1:241500479 [GRCh38]
Chr1:241663779 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.556-3_562del deletion not provided [RCV002553927] Chr1:241508779..241508788 [GRCh38]
Chr1:241672079..241672088 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1227G>C (p.Lys409Asn) single nucleotide variant not provided [RCV002552545] Chr1:241502452 [GRCh38]
Chr1:241665752 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.28C>T (p.Arg10Cys) single nucleotide variant Fumarase deficiency [RCV001039209]|Hereditary cancer-predisposing syndrome [RCV002434450]|not provided [RCV001759736] Chr1:241519695 [GRCh38]
Chr1:241682995 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.838G>A (p.Gly280Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004619507]|not provided [RCV002554458] Chr1:241506069 [GRCh38]
Chr1:241669369 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.34C>T (p.Arg12Cys) single nucleotide variant FH-related disorder [RCV004555613]|Hereditary cancer-predisposing syndrome [RCV002339199]|not provided [RCV002551468] Chr1:241519689 [GRCh38]
Chr1:241682989 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.366G>A (p.Lys122=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020848]|Hereditary leiomyomatosis and renal cell cancer [RCV005245668]|not provided [RCV002551832] Chr1:241513615 [GRCh38]
Chr1:241676915 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1229C>G (p.Pro410Arg) single nucleotide variant not provided [RCV002555830] Chr1:241502450 [GRCh38]
Chr1:241665750 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1194C>T (p.Gly398=) single nucleotide variant Fumarase deficiency [RCV001041138]|Hereditary leiomyomatosis and renal cell cancer [RCV005245712]|not provided [RCV002552498] Chr1:241502485 [GRCh38]
Chr1:241665785 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NC_000001.10:g.(?_241661128)_(242034263_?)del deletion Fumarase deficiency [RCV001032378] Chr1:241661128..242034263 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.11:g.(?_241505993)_(241506183_?)del deletion Fumarase deficiency [RCV001032921] Chr1:241669293..241669483 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.11:g.(?_241497818)_(241512153_?)del deletion not provided [RCV003103896] Chr1:241661118..241675453 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1169A>G (p.Asn390Ser) single nucleotide variant Fumarase deficiency [RCV001072142]|not provided [RCV003128750] Chr1:241502510 [GRCh38]
Chr1:241665810 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.278T>C (p.Ile93Thr) single nucleotide variant not provided [RCV002553183] Chr1:241513703 [GRCh38]
Chr1:241677003 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.780_781del (p.Arg261fs) deletion Hereditary cancer-predisposing syndrome [RCV002409418]|not provided [RCV002553184] Chr1:241506126..241506127 [GRCh38]
Chr1:241669426..241669427 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.332G>A (p.Gly111Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320359]|not provided [RCV002554632] Chr1:241513649 [GRCh38]
Chr1:241676949 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241661108)_(242431558_?)del deletion Fumarase deficiency [RCV001032255] Chr1:241661108..242431558 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1003C>G (p.Leu335Val) single nucleotide variant not provided [RCV002552513] Chr1:241504147 [GRCh38]
Chr1:241667447 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1263G>T (p.Arg421Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004619513]|not provided [RCV003103925] Chr1:241500564 [GRCh38]
Chr1:241663864 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.310G>A (p.Ala104Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320255]|not provided [RCV002552524] Chr1:241513671 [GRCh38]
Chr1:241676971 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.947del (p.Ala316fs) deletion not provided [RCV005092316] Chr1:241504203 [GRCh38]
Chr1:241667503 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.90C>A (p.Gly30=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372581]|Hereditary leiomyomatosis and renal cell cancer [RCV005249317]|not provided [RCV002541561] Chr1:241519633 [GRCh38]
Chr1:241682933 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1422A>T (p.Thr474=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004029550]|not provided [RCV003541237] Chr1:241497939 [GRCh38]
Chr1:241661239 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.21C>T (p.Leu7=) single nucleotide variant Fumarase deficiency [RCV001274351]|Hereditary cancer-predisposing syndrome [RCV002427219]|Hereditary leiomyomatosis and renal cell cancer [RCV005249252]|not provided [RCV005056648] Chr1:241519702 [GRCh38]
Chr1:241683002 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.267+8G>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV004789252]|not provided [RCV002544936] Chr1:241517174 [GRCh38]
Chr1:241680474 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.739-15T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258022]|not provided [RCV002539243] Chr1:241506183 [GRCh38]
Chr1:241669483 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1092A>G (p.Gly364=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454102]|Hereditary leiomyomatosis and renal cell cancer [RCV005249313]|not provided [RCV005092777] Chr1:241504058 [GRCh38]
Chr1:241667358 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCTCT microsatellite not provided [RCV003656653] Chr1:241500598..241500599 [GRCh38]
Chr1:241663898..241663899 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.312T>G (p.Ala104=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311067] Chr1:241513669 [GRCh38]
Chr1:241676969 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.94G>A (p.Ala32Thr) single nucleotide variant FH-related disorder [RCV004555611]|Hereditary cancer-predisposing syndrome [RCV001019431]|not provided [RCV003769514] Chr1:241519629 [GRCh38]
Chr1:241682929 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.993T>C (p.Thr331=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019920]|Hereditary leiomyomatosis and renal cell cancer [RCV005245659]|not provided [RCV002550853] Chr1:241504157 [GRCh38]
Chr1:241667457 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1231A>G (p.Met411Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010457]|not provided [RCV002537475] Chr1:241502448 [GRCh38]
Chr1:241665748 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.356C>T (p.Ala119Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453804]|not provided [RCV002537211] Chr1:241513625 [GRCh38]
Chr1:241676925 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.3:c.904+47G>A single nucleotide variant not provided [RCV000830745] Chr1:241669256 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1391-158A>T single nucleotide variant not provided [RCV000839303] Chr1:241498128 [GRCh38]
Chr1:241661428 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1151C>T (p.Ala384Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352347]|not provided [RCV002298778] Chr1:241502528 [GRCh38]
Chr1:241665828 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.668A>T (p.Lys223Ile) single nucleotide variant Fumarase deficiency [RCV000817439]|Hereditary cancer-predisposing syndrome [RCV004028913]|not provided [RCV002535449] Chr1:241508673 [GRCh38]
Chr1:241671973 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1236+292T>C single nucleotide variant not provided [RCV000839469] Chr1:241502151 [GRCh38]
Chr1:241665451 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.180A>G (p.Leu60=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249105]|not provided [RCV000841456] Chr1:241517269 [GRCh38]
Chr1:241680569 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1088C>G (p.Pro363Arg) single nucleotide variant FH-related disorder [RCV004555597]|not provided [RCV002537079] Chr1:241504062 [GRCh38]
Chr1:241667362 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.578C>T (p.Thr193Ile) single nucleotide variant Fumarase deficiency [RCV002487693]|not provided [RCV002537132] Chr1:241508763 [GRCh38]
Chr1:241672063 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.415G>A (p.Val139Met) single nucleotide variant Fumarase deficiency [RCV000810319]|Fumarase deficiency [RCV005392425]|Hereditary cancer-predisposing syndrome [RCV001021974]|Hereditary leiomyomatosis and renal cell cancer [RCV001100769]|Microcephaly [RCV001252807]|Ovarian cancer [RCV003153850]|not provided [RCV001585739] Chr1:241512107 [GRCh38]
Chr1:241675407 [GRCh37]
Chr1:1q43		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.379-214A>G single nucleotide variant not provided [RCV000837737] Chr1:241512357 [GRCh38]
Chr1:241675657 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.451A>T (p.Met151Leu) single nucleotide variant Fumarase deficiency [RCV000802996]|Hereditary cancer-predisposing syndrome [RCV004949937]|not provided [RCV002537153] Chr1:241512071 [GRCh38]
Chr1:241675371 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.339T>A (p.Asp113Glu) single nucleotide variant Fumarase deficiency [RCV000821202]|Hereditary cancer-predisposing syndrome [RCV002453887]|not provided [RCV002537497] Chr1:241513642 [GRCh38]
Chr1:241676942 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.739-240G>A single nucleotide variant not provided [RCV000839809] Chr1:241506408 [GRCh38]
Chr1:241669708 [GRCh37]
Chr1:1q43		 likely benign
NC_000001.11:g.(?_241497818)_(241519732_?)del deletion Fumarase deficiency [RCV000823953] Chr1:241497818..241519732 [GRCh38]
Chr1:241661118..241683032 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.152G>C (p.Arg51Pro) single nucleotide variant Fumarase deficiency [RCV000797723]|not provided [RCV002537051] Chr1:241517297 [GRCh38]
Chr1:241680597 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.3(FH):c.-116G>A single nucleotide variant not provided [RCV000836195] Chr1:241519838 [GRCh38]
Chr1:241683138 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1040C>T (p.Ser347Phe) single nucleotide variant not provided [RCV002537274] Chr1:241504110 [GRCh38]
Chr1:241667410 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1A>T (p.Met1Leu) single nucleotide variant Fumarase deficiency [RCV000794812]|Hereditary cancer-predisposing syndrome [RCV002422699]|not provided [RCV002535910] Chr1:241519722 [GRCh38]
Chr1:241683022 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.175G>T (p.Glu59Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380736]|not provided [RCV001784432] Chr1:241517274 [GRCh38]
Chr1:241680574 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.11:g.(?_241497818)_(241504255_?)del deletion Fumarase deficiency [RCV000802586] Chr1:241497818..241504255 [GRCh38]
Chr1:241661118..241667555 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.37C>A (p.Pro13Thr) single nucleotide variant Fumarase deficiency [RCV000808009]|Hereditary cancer-predisposing syndrome [RCV002363079]|not provided [RCV002537277] Chr1:241519686 [GRCh38]
Chr1:241682986 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.893C>G (p.Ala298Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307447]|not provided [RCV002537081] Chr1:241506014 [GRCh38]
Chr1:241669314 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.905-3T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018725]|Hereditary leiomyomatosis and renal cell cancer [RCV005249080]|not provided [RCV002534627] Chr1:241504248 [GRCh38]
Chr1:241667548 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1328_1331dup (p.Ile445fs) duplication not provided [RCV002537451] Chr1:241500495..241500496 [GRCh38]
Chr1:241663795..241663796 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1415C>T (p.Ala472Val) single nucleotide variant Fumarase deficiency [RCV000819944]|Hereditary cancer-predisposing syndrome [RCV001011457]|not provided [RCV001772135] Chr1:241497946 [GRCh38]
Chr1:241661246 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1434T>A (p.Asn478Lys) single nucleotide variant Fumarase deficiency [RCV000801893]|Hereditary cancer-predisposing syndrome [RCV004028080]|not provided [RCV002537140] Chr1:241497927 [GRCh38]
Chr1:241661227 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1391-4T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390967]|not provided [RCV002542317] Chr1:241497974 [GRCh38]
Chr1:241661274 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.141A>G (p.Gln47=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011451]|Hereditary leiomyomatosis and renal cell cancer [RCV005249219]|not provided [RCV003657039] Chr1:241517308 [GRCh38]
Chr1:241680608 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.418del (p.Val140fs) deletion not provided [RCV002535912] Chr1:241512104 [GRCh38]
Chr1:241675404 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1341G>A (p.Lys447=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381983]|Hereditary leiomyomatosis and renal cell cancer [RCV005249220]|not provided [RCV003657770] Chr1:241500486 [GRCh38]
Chr1:241663786 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.685A>G (p.Ile229Val) single nucleotide variant Fumarase deficiency [RCV000820286]|Hereditary cancer-predisposing syndrome [RCV004029034]|not provided [RCV002535515] Chr1:241508656 [GRCh38]
Chr1:241671956 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.844G>C (p.Gly282Arg) single nucleotide variant not provided [RCV002537286] Chr1:241506063 [GRCh38]
Chr1:241669363 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.416T>G (p.Val139Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332687]|not provided [RCV002534912] Chr1:241512106 [GRCh38]
Chr1:241675406 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.683T>C (p.Ile228Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363155]|not provided [RCV002537466] Chr1:241508658 [GRCh38]
Chr1:241671958 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.103T>C (p.Ser35Pro) single nucleotide variant not provided [RCV002534772] Chr1:241519620 [GRCh38]
Chr1:241682920 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.312T>C (p.Ala104=) single nucleotide variant FH-related disorder [RCV004555598]|Hereditary cancer-predisposing syndrome [RCV002319946]|Hereditary leiomyomatosis and renal cell cancer [RCV005249103]|not provided [RCV000840848] Chr1:241513669 [GRCh38]
Chr1:241676969 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1123A>G (p.Thr375Ala) single nucleotide variant not provided [RCV002534613] Chr1:241502556 [GRCh38]
Chr1:241665856 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.209C>T (p.Ala70Val) single nucleotide variant Fumarase deficiency [RCV000804160]|Hereditary cancer-predisposing syndrome [RCV002422752]|not provided [RCV002537175] Chr1:241517240 [GRCh38]
Chr1:241680540 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1051T>G (p.Ser351Ala) single nucleotide variant Fumarase deficiency [RCV003461183]|Hereditary cancer-predisposing syndrome [RCV003307496]|not provided [RCV002537310] Chr1:241504099 [GRCh38]
Chr1:241667399 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.187C>T (p.Pro63Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004949906]|not provided [RCV002536952] Chr1:241517262 [GRCh38]
Chr1:241680562 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1362G>A (p.Met454Ile) single nucleotide variant not provided [RCV002538025] Chr1:241500465 [GRCh38]
Chr1:241663765 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_000143.4(FH):c.230T>C (p.Met77Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004949992]|not provided [RCV002534915] Chr1:241517219 [GRCh38]
Chr1:241680519 [GRCh37]
Chr1:1q43		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787399] Chr1:238817623..244138230 [GRCh37]
Chr1:1q43-44		 likely pathogenic
NM_000143.4(FH):c.502G>C (p.Glu168Gln) single nucleotide variant not provided [RCV002534618] Chr1:241512020 [GRCh38]
Chr1:241675320 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.151C>T (p.Arg51Trp) single nucleotide variant Fumarase deficiency [RCV000804384]|Fumarase deficiency [RCV005021218]|Hereditary cancer-predisposing syndrome [RCV002256525]|not provided [RCV002537177]|not specified [RCV002465783] Chr1:241517298 [GRCh38]
Chr1:241680598 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.10G>A (p.Ala4Thr) single nucleotide variant Fumarase deficiency [RCV000804394]|Hereditary cancer-predisposing syndrome [RCV004028172]|not provided [RCV002534780] Chr1:241519713 [GRCh38]
Chr1:241683013 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.327T>G (p.Asp109Glu) single nucleotide variant Fumarase deficiency [RCV000820876]|Hereditary cancer-predisposing syndrome [RCV002442754]|not provided [RCV002537480] Chr1:241513654 [GRCh38]
Chr1:241676954 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.564_587delinsG (p.Asn188fs) indel not provided [RCV002535991] Chr1:241508754..241508777 [GRCh38]
Chr1:241672054..241672077 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1391-285A>G single nucleotide variant not provided [RCV000839496] Chr1:241498255 [GRCh38]
Chr1:241661555 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.877G>A (p.Val293Ile) single nucleotide variant Fumarase deficiency [RCV003461251]|not provided [RCV002535465] Chr1:241506030 [GRCh38]
Chr1:241669330 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.669A>G (p.Lys223=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025541]|Hereditary leiomyomatosis and renal cell cancer [RCV005249106]|not provided [RCV000842673] Chr1:241508672 [GRCh38]
Chr1:241671972 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1165_1174del (p.Gly389fs) deletion Fumarase deficiency [RCV000810743] Chr1:241502505..241502514 [GRCh38]
Chr1:241665805..241665814 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.127C>T (p.Arg43Ter) single nucleotide variant Fumarase deficiency [RCV003467368]|Fumarase deficiency [RCV005021203]|Hereditary cancer-predisposing syndrome [RCV005338359]|not provided [RCV001784418] Chr1:241519596 [GRCh38]
Chr1:241682896 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.705T>G (p.His235Gln) single nucleotide variant not provided [RCV002535932] Chr1:241508636 [GRCh38]
Chr1:241671936 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.74C>T (p.Ala25Val) single nucleotide variant not provided [RCV002534700] Chr1:241519649 [GRCh38]
Chr1:241682949 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.344del (p.Lys115fs) deletion not provided [RCV002535487] Chr1:241513637 [GRCh38]
Chr1:241676937 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1236+346_1236+355del deletion not provided [RCV000839410] Chr1:241502088..241502097 [GRCh38]
Chr1:241665388..241665397 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-1G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010486]|not provided [RCV002549318] Chr1:241500591 [GRCh38]
Chr1:241663891 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1298dup (p.Asn433fs) duplication Hereditary cancer-predisposing syndrome [RCV001010580] Chr1:241500528..241500529 [GRCh38]
Chr1:241663828..241663829 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.555+3C>A single nucleotide variant Fumarase deficiency [RCV001060328]|not provided [RCV002553880] Chr1:241511964 [GRCh38]
Chr1:241675264 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_000143.4(FH):c.589A>G (p.Ile197Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355064]|not provided [RCV002554436] Chr1:241508752 [GRCh38]
Chr1:241672052 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.227C>T (p.Thr76Met) single nucleotide variant Fumarase deficiency [RCV000796492]|Hereditary cancer-predisposing syndrome [RCV002442637]|not provided [RCV002537027] Chr1:241517222 [GRCh38]
Chr1:241680522 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.853A>G (p.Thr285Ala) single nucleotide variant Fumarase deficiency [RCV003467328]|Hereditary cancer-predisposing syndrome [RCV002442613]|not provided [RCV002535856] Chr1:241506054 [GRCh38]
Chr1:241669354 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.855T>C (p.Thr285=) single nucleotide variant not provided [RCV000994325] Chr1:241506052 [GRCh38]
Chr1:241669352 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.269C>T (p.Thr90Ile) single nucleotide variant not provided [RCV002536941] Chr1:241513712 [GRCh38]
Chr1:241677012 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.657T>G (p.Asp219Glu) single nucleotide variant not provided [RCV002537007] Chr1:241508684 [GRCh38]
Chr1:241671984 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.11:g.(?_241497818)_(241508795_?)del deletion not provided [RCV004562798] Chr1:241497818..241508795 [GRCh38]
Chr1:241661118..241672095 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1435G>T (p.Gly479Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005338388]|not provided [RCV001784440] Chr1:241497926 [GRCh38]
Chr1:241661226 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.509G>A (p.Gly170Asp) single nucleotide variant Fumarase deficiency [RCV003467373]|Hereditary cancer-predisposing syndrome [RCV002334505]|not provided [RCV002537094] Chr1:241512013 [GRCh38]
Chr1:241675313 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.739-200G>A single nucleotide variant not provided [RCV000836398] Chr1:241506368 [GRCh38]
Chr1:241669668 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.739-10T>G single nucleotide variant not provided [RCV003768689] Chr1:241506178 [GRCh38]
Chr1:241669478 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.739-2A>G single nucleotide variant Fumarase deficiency [RCV002495120]|Hereditary leiomyomatosis and renal cell cancer [RCV001563611]|not provided [RCV002537332] Chr1:241506170 [GRCh38]
Chr1:241669470 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.120_130del (p.Ala41fs) deletion not provided [RCV001784412] Chr1:241519593..241519603 [GRCh38]
Chr1:241682893..241682903 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.424C>T (p.Gln142Ter) single nucleotide variant not provided [RCV002538003] Chr1:241512098 [GRCh38]
Chr1:241675398 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.944T>C (p.Leu315Pro) single nucleotide variant Hereditary cancer [RCV004698852]|not provided [RCV002536030] Chr1:241504206 [GRCh38]
Chr1:241667506 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.739-17TTTTC[2] microsatellite FH-related disorder [RCV004735832]|Hereditary cancer-predisposing syndrome [RCV002381918]|not provided [RCV001556917] Chr1:241506171..241506175 [GRCh38]
Chr1:241669471..241669475 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1236G>A (p.Met412Ile) single nucleotide variant not provided [RCV002538131] Chr1:241502443 [GRCh38]
Chr1:241665743 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.776T>A (p.Met259Lys) single nucleotide variant Fumarase deficiency [RCV000796601] Chr1:241506131 [GRCh38]
Chr1:241669431 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.616G>T (p.Val206Leu) single nucleotide variant not provided [RCV002534719] Chr1:241508725 [GRCh38]
Chr1:241672025 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.738+265G>A single nucleotide variant not provided [RCV000844091] Chr1:241508338 [GRCh38]
Chr1:241671638 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.771T>C (p.Tyr257=) single nucleotide variant Fumarase deficiency [RCV000942156]|Hereditary cancer-predisposing syndrome [RCV001026754]|Hereditary leiomyomatosis and renal cell cancer [RCV005249389]|not provided [RCV001788380] Chr1:241506136 [GRCh38]
Chr1:241669436 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.759A>G (p.Gln253=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026602]|Hereditary leiomyomatosis and renal cell cancer [RCV005249079]|not provided [RCV002537039] Chr1:241506148 [GRCh38]
Chr1:241669448 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_000143.4(FH):c.1237-5C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360961]|not provided [RCV003540944] Chr1:241500595 [GRCh38]
Chr1:241663895 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.352A>G (p.Asn118Asp) single nucleotide variant Fumarase deficiency [RCV000808925]|Fumarase deficiency [RCV002487745]|Hereditary cancer-predisposing syndrome [RCV001020531]|not provided [RCV002538041] Chr1:241513629 [GRCh38]
Chr1:241676929 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.677C>A (p.Ala226Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363154]|not provided [RCV001766736] Chr1:241508664 [GRCh38]
Chr1:241671964 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.5dup (p.Tyr2Ter) duplication not provided [RCV002534620] Chr1:241519717..241519718 [GRCh38]
Chr1:241683017..241683018 [GRCh37]
Chr1:1q43		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
NM_000143.3(FH):c.-57C>G single nucleotide variant Fumarase deficiency [RCV001099128]|Hereditary cancer-predisposing syndrome [RCV002255620]|Hereditary leiomyomatosis and renal cell cancer [RCV001099129] Chr1:241519779 [GRCh38]
Chr1:241683079 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_000143.4(FH):c.424C>G (p.Gln142Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022133]|not provided [RCV002551848] Chr1:241512098 [GRCh38]
Chr1:241675398 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.425A>G (p.Gln142Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022160]|not provided [RCV002550874] Chr1:241512097 [GRCh38]
Chr1:241675397 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.434C>G (p.Ser145Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022335]|not provided [RCV001784560] Chr1:241512088 [GRCh38]
Chr1:241675388 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.551G>C (p.Ser184Thr) single nucleotide variant not provided [RCV002553274] Chr1:241511971 [GRCh38]
Chr1:241675271 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1262G>C (p.Arg421Thr) single nucleotide variant not provided [RCV003103915] Chr1:241500565 [GRCh38]
Chr1:241663865 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:241499877-241885359)x3 copy number gain not provided [RCV000848301] Chr1:241499877..241885359 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.9A>C (p.Arg3=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019972]|Hereditary leiomyomatosis and renal cell cancer [RCV005245661]|not provided [RCV003558643] Chr1:241519714 [GRCh38]
Chr1:241683014 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.43G>T (p.Val15Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022429]|not provided [RCV002551854] Chr1:241519680 [GRCh38]
Chr1:241682980 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:241106058-242088336)x3 copy number gain not provided [RCV000847311] Chr1:241106058..242088336 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.96C>A (p.Ala32=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382229]|Hereditary leiomyomatosis and renal cell cancer [RCV005249460]|not provided [RCV002550663] Chr1:241519627 [GRCh38]
Chr1:241682927 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
GRCh37/hg19 1q43(chr1:241680265-241929583)x3 copy number gain not provided [RCV001005200] Chr1:241680265..241929583 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.943C>G (p.Leu315Val) single nucleotide variant Fumarase deficiency [RCV001832346]|Hereditary cancer-predisposing syndrome [RCV001019358]|not provided [RCV003117697] Chr1:241504207 [GRCh38]
Chr1:241667507 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1430A>C (p.Lys477Thr) single nucleotide variant not provided [RCV002553784] Chr1:241497931 [GRCh38]
Chr1:241661231 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.959C>T (p.Ala320Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019524]|not provided [RCV005056771]|not specified [RCV005232054] Chr1:241504191 [GRCh38]
Chr1:241667491 [GRCh37]
Chr1:1q43		 uncertain significance
Single allele deletion Hereditary leiomyomatosis and renal cell cancer [RCV000850150] Chr1:237244834..242310908 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.431G>A (p.Gly144Glu) single nucleotide variant Fumarase deficiency [RCV003461391]|Hereditary cancer-predisposing syndrome [RCV001022288]|not provided [RCV002549552] Chr1:241512091 [GRCh38]
Chr1:241675391 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.958G>T (p.Ala320Ser) single nucleotide variant Fumarase deficiency [RCV001246874]|Fumarase deficiency [RCV005012681]|Hereditary cancer-predisposing syndrome [RCV003166550]|not provided [RCV002570350] Chr1:241504192 [GRCh38]
Chr1:241667492 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1324A>G (p.Thr442Ala) single nucleotide variant not provided [RCV002553820] Chr1:241500503 [GRCh38]
Chr1:241663803 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NM_000143.4(FH):c.193G>T (p.Asp65Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004031828]|not provided [RCV002553374] Chr1:241517256 [GRCh38]
Chr1:241680556 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.378+3A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021120] Chr1:241513600 [GRCh38]
Chr1:241676900 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.164A>G (p.Asp55Gly) single nucleotide variant not provided [RCV002563200] Chr1:241517285 [GRCh38]
Chr1:241680585 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.132+201C>G single nucleotide variant not provided [RCV001571671] Chr1:241519390 [GRCh38]
Chr1:241682690 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.224del (p.Ser75fs) deletion Hereditary leiomyomatosis and renal cell cancer [RCV001201265] Chr1:241517225 [GRCh38]
Chr1:241680525 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.262A>C (p.Met88Leu) single nucleotide variant not provided [RCV002563231] Chr1:241517187 [GRCh38]
Chr1:241680487 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.11C>A (p.Ala4Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348799]|not provided [RCV002563872] Chr1:241519712 [GRCh38]
Chr1:241683012 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1262G>T (p.Arg421Met) single nucleotide variant Fumarase deficiency [RCV001222615]|Fumarase deficiency [RCV005394837]|Hereditary cancer-predisposing syndrome [RCV002447119]|not provided [RCV002562557] Chr1:241500565 [GRCh38]
Chr1:241663865 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1481C>T (p.Ala494Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393477]|not provided [RCV002562364] Chr1:241497880 [GRCh38]
Chr1:241661180 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.473G>T (p.Ser158Ile) single nucleotide variant Fumarase deficiency [RCV005394859]|Hereditary leiomyomatosis and renal cell cancer [RCV005236714]|not provided [RCV002563924] Chr1:241512049 [GRCh38]
Chr1:241675349 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.260G>T (p.Arg87Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429949]|not provided [RCV002563042] Chr1:241517189 [GRCh38]
Chr1:241680489 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.240G>C (p.Lys80Asn) single nucleotide variant Fumarase deficiency [RCV001233377]|not provided [RCV002480762] Chr1:241517209 [GRCh38]
Chr1:241680509 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1016C>A (p.Ala339Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339570]|not provided [RCV002561926] Chr1:241504134 [GRCh38]
Chr1:241667434 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.738+3A>G single nucleotide variant not provided [RCV002561230] Chr1:241508600 [GRCh38]
Chr1:241671900 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.916G>A (p.Val306Ile) single nucleotide variant not provided [RCV002562620] Chr1:241504234 [GRCh38]
Chr1:241667534 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.154A>G (p.Ile52Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380923]|not provided [RCV002567915] Chr1:241517295 [GRCh38]
Chr1:241680595 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1109-1G>C single nucleotide variant not provided [RCV002561716] Chr1:241502571 [GRCh38]
Chr1:241665871 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.405T>G (p.His135Gln) single nucleotide variant Fumarase deficiency [RCV001209597]|Hereditary cancer-predisposing syndrome [RCV002322024]|not provided [RCV001751383] Chr1:241512117 [GRCh38]
Chr1:241675417 [GRCh37]
Chr1:1q43		 conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.555G>T (p.Gln185His) single nucleotide variant not provided [RCV003656483] Chr1:241511967 [GRCh38]
Chr1:241675267 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.431del (p.Gly144fs) deletion not provided [RCV002563904] Chr1:241512091 [GRCh38]
Chr1:241675391 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.452T>A (p.Met151Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339648]|not provided [RCV001773530] Chr1:241512070 [GRCh38]
Chr1:241675370 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1287del (p.Phe430fs) deletion Hereditary cancer-predisposing syndrome [RCV002379848]|not provided [RCV002563050] Chr1:241500540 [GRCh38]
Chr1:241663840 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.484del (p.Ile162fs) deletion not provided [RCV002561135] Chr1:241512038 [GRCh38]
Chr1:241675338 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1300T>C (p.Cys434Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951363]|not provided [RCV002563095] Chr1:241500527 [GRCh38]
Chr1:241663827 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.910C>T (p.Pro304Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005340728]|not provided [RCV002568660] Chr1:241504240 [GRCh38]
Chr1:241667540 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.22C>G (p.Leu8Val) single nucleotide variant not provided [RCV002563737] Chr1:241519701 [GRCh38]
Chr1:241683001 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.13C>G (p.Leu5Val) single nucleotide variant not provided [RCV002563802] Chr1:241519710 [GRCh38]
Chr1:241683010 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.712G>A (p.Asp238Asn) single nucleotide variant not provided [RCV002561866] Chr1:241508629 [GRCh38]
Chr1:241671929 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.845G>T (p.Gly282Val) single nucleotide variant not provided [RCV002563808] Chr1:241506062 [GRCh38]
Chr1:241669362 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
GRCh37/hg19 1q43(chr1:241661303-241752434)x3 copy number gain not provided [RCV000846197] Chr1:241661303..241752434 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.490del (p.Met164fs) deletion Fumarase deficiency [RCV003466053]|Hereditary leiomyomatosis and renal cell cancer [RCV003316968]|not provided [RCV003575074] Chr1:241512032 [GRCh38]
Chr1:241675332 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.650C>T (p.Ala217Val) single nucleotide variant not provided [RCV003313447] Chr1:241508691 [GRCh38]
Chr1:241671991 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1158_1160del (p.Gln386_Val387delinsHis) deletion Fumarase deficiency [RCV001197942] Chr1:241502519..241502521 [GRCh38]
Chr1:241665819..241665821 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.738+14A>G single nucleotide variant Fumarase deficiency [RCV001098957]|Hereditary leiomyomatosis and renal cell cancer [RCV001098956]|not provided [RCV002556011] Chr1:241508589 [GRCh38]
Chr1:241671889 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.905G>A (p.Gly302Asp) single nucleotide variant Fumarase deficiency [RCV001229703]|Hereditary cancer-predisposing syndrome [RCV004032675]|not provided [RCV001553142] Chr1:241504245 [GRCh38]
Chr1:241667545 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.555+148C>G single nucleotide variant not provided [RCV001715666] Chr1:241511819 [GRCh38]
Chr1:241675119 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.691A>C (p.Ile231Leu) single nucleotide variant Fumarase deficiency [RCV001832810]|Hereditary cancer-predisposing syndrome [RCV002370228]|not provided [RCV001583548] Chr1:241508650 [GRCh38]
Chr1:241671950 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.556-281A>T single nucleotide variant not provided [RCV001568586] Chr1:241509066 [GRCh38]
Chr1:241672366 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.733G>A (p.Gly245Arg) single nucleotide variant Fumarase deficiency [RCV004571062]|Hereditary cancer-predisposing syndrome [RCV002386457]|not provided [RCV001561482] Chr1:241508608 [GRCh38]
Chr1:241671908 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.*5C>T single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247286]|not provided [RCV001717779] Chr1:241497823 [GRCh38]
Chr1:241661123 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1108+98C>A single nucleotide variant not provided [RCV001667658] Chr1:241503944 [GRCh38]
Chr1:241667244 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1237-50TC[26] microsatellite Hereditary leiomyomatosis and renal cell cancer [RCV005361687]|not provided [RCV001635546]|not specified [RCV001821935] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.378+8G>C single nucleotide variant not provided [RCV002544554] Chr1:241513595 [GRCh38]
Chr1:241676895 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.210C>T (p.Ala70=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416002]|Hereditary leiomyomatosis and renal cell cancer [RCV005249151]|not provided [RCV002538941] Chr1:241517239 [GRCh38]
Chr1:241680539 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1470C>T (p.Gly490=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011759]|Hereditary leiomyomatosis and renal cell cancer [RCV005249161]|not provided [RCV002536285] Chr1:241497891 [GRCh38]
Chr1:241661191 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.378+8G>A single nucleotide variant not provided [RCV003541241] Chr1:241513595 [GRCh38]
Chr1:241676895 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.987C>T (p.Asn329=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382108]|not provided [RCV003541239] Chr1:241504163 [GRCh38]
Chr1:241667463 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.105G>C (p.Ser35=) single nucleotide variant Fumarase deficiency [RCV000888784]|Hereditary cancer-predisposing syndrome [RCV001009810]|Hereditary leiomyomatosis and renal cell cancer [RCV005249276]|not provided [RCV001575318] Chr1:241519618 [GRCh38]
Chr1:241682918 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.414C>T (p.Leu138=) single nucleotide variant Fumarase deficiency [RCV000908521]|Hereditary cancer-predisposing syndrome [RCV001021952]|Hereditary leiomyomatosis and renal cell cancer [RCV005249293]|not provided [RCV002540777] Chr1:241512108 [GRCh38]
Chr1:241675408 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000143.4(FH):c.600A>G (p.Ala200=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249294]|not provided [RCV003541225] Chr1:241508741 [GRCh38]
Chr1:241672041 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.615A>G (p.Glu205=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354792]|not provided [RCV002544456] Chr1:241508726 [GRCh38]
Chr1:241672026 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.228G>T (p.Thr76=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445015]|Hereditary leiomyomatosis and renal cell cancer [RCV005249300]|not provided [RCV002540877] Chr1:241517221 [GRCh38]
Chr1:241680521 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.354T>C (p.Asn118=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336820]|Hereditary leiomyomatosis and renal cell cancer [RCV005249206]|not provided [RCV005208862] Chr1:241513627 [GRCh38]
Chr1:241676927 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1330A>C (p.Arg444=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382112]|not provided [RCV005208786] Chr1:241500497 [GRCh38]
Chr1:241663797 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1274A>T (p.Asp425Val) single nucleotide variant Fumarase deficiency [RCV003468196]|Hereditary cancer-predisposing syndrome [RCV005335777]|not provided [RCV005100167] Chr1:241500553 [GRCh38]
Chr1:241663853 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.1358T>C (p.Leu453Pro) single nucleotide variant Fumarase deficiency [RCV004556087]|not provided [RCV001781104] Chr1:241500469 [GRCh38]
Chr1:241663769 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1443C>T (p.Thr481=) single nucleotide variant not provided [RCV005092940] Chr1:241497918 [GRCh38]
Chr1:241661218 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1173T>C (p.His391=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003353084]|Hereditary leiomyomatosis and renal cell cancer [RCV005249325]|not provided [RCV002544427] Chr1:241502506 [GRCh38]
Chr1:241665806 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1522G>C (p.Gly508Arg) single nucleotide variant not provided [RCV002562986] Chr1:241497839 [GRCh38]
Chr1:241661139 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.880G>A (p.Ala294Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374983]|not provided [RCV002555864] Chr1:241506027 [GRCh38]
Chr1:241669327 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1000dup (p.Ser334fs) duplication Hereditary cancer-predisposing syndrome [RCV002339690]|not provided [RCV002564124] Chr1:241504149..241504150 [GRCh38]
Chr1:241667449..241667450 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.378+1G>A single nucleotide variant Fumarase deficiency [RCV003469407]|Hereditary cancer-predisposing syndrome [RCV002366032]|Hereditary leiomyomatosis and renal cell cancer [RCV005253754]|not provided [RCV002563184] Chr1:241513602 [GRCh38]
Chr1:241676902 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1390+6T>C single nucleotide variant Fumarase deficiency [RCV001203805]|not provided [RCV002561134] Chr1:241500431 [GRCh38]
Chr1:241663731 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.903A>C (p.Thr301=) single nucleotide variant not provided [RCV003656467] Chr1:241506004 [GRCh38]
Chr1:241669304 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.289G>C (p.Gly97Arg) single nucleotide variant not provided [RCV002554626] Chr1:241513692 [GRCh38]
Chr1:241676992 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1291A>G (p.Thr431Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951407]|not provided [RCV002567910] Chr1:241500536 [GRCh38]
Chr1:241663836 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.159A>G (p.Glu53=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402663]|Hereditary leiomyomatosis and renal cell cancer [RCV005245793]|not provided [RCV002563003] Chr1:241517290 [GRCh38]
Chr1:241680590 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_000143.4(FH):c.199T>G (p.Tyr67Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418844]|not provided [RCV002568623] Chr1:241517250 [GRCh38]
Chr1:241680550 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.956A>G (p.Asp319Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004619568]|not provided [RCV002563061] Chr1:241504194 [GRCh38]
Chr1:241667494 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.721C>G (p.Pro241Ala) single nucleotide variant not provided [RCV002561228] Chr1:241508620 [GRCh38]
Chr1:241671920 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1119C>A (p.Asn373Lys) single nucleotide variant not provided [RCV002563071] Chr1:241502560 [GRCh38]
Chr1:241665860 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.207C>G (p.Gly69=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003338868]|not provided [RCV003541246] Chr1:241517242 [GRCh38]
Chr1:241680542 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-15CTCA[2] microsatellite Hereditary cancer-predisposing syndrome [RCV005338466]|Hereditary leiomyomatosis and renal cell cancer [RCV005249340]|not provided [RCV002542283] Chr1:241500594..241500597 [GRCh38]
Chr1:241663894..241663897 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.285T>C (p.Ala95=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434250]|Hereditary leiomyomatosis and renal cell cancer [RCV005249349]|not provided [RCV005208887] Chr1:241513696 [GRCh38]
Chr1:241676996 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.729T>C (p.Thr243=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003279161]|not provided [RCV005092840] Chr1:241508612 [GRCh38]
Chr1:241671912 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.132+71C>A single nucleotide variant not provided [RCV001582000] Chr1:241519520 [GRCh38]
Chr1:241682820 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.279T>G (p.Ile93Met) single nucleotide variant Fumarase deficiency [RCV002251008] Chr1:241513702 [GRCh38]
Chr1:241677002 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.132+178G>A single nucleotide variant not provided [RCV001553220] Chr1:241519413 [GRCh38]
Chr1:241682713 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1391-269A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388587]|not provided [RCV001553262] Chr1:241498239 [GRCh38]
Chr1:241661539 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.1108+261C>T single nucleotide variant not provided [RCV001565952] Chr1:241503781 [GRCh38]
Chr1:241667081 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1517T>G (p.Met506Arg) single nucleotide variant Fumarase deficiency [RCV002467383] Chr1:241497844 [GRCh38]
Chr1:241661144 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.111G>T (p.Trp37Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009917] Chr1:241519612 [GRCh38]
Chr1:241682912 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.38C>T (p.Pro13Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021388]|not provided [RCV005093209] Chr1:241519685 [GRCh38]
Chr1:241682985 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.167C>G (p.Thr56Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012692]|not provided [RCV002549374] Chr1:241517282 [GRCh38]
Chr1:241680582 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.167C>T (p.Thr56Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012693]|not provided [RCV002551761] Chr1:241517282 [GRCh38]
Chr1:241680582 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.326A>T (p.Asp109Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019537]|not provided [RCV002551818] Chr1:241513655 [GRCh38]
Chr1:241676955 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.914T>C (p.Phe305Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018919]|not provided [RCV002549490] Chr1:241504236 [GRCh38]
Chr1:241667536 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.73G>A (p.Ala25Thr) single nucleotide variant Fumarase deficiency [RCV001243101]|Hereditary cancer-predisposing syndrome [RCV001026389]|not provided [RCV003103886] Chr1:241519650 [GRCh38]
Chr1:241682950 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.763G>A (p.Val255Ile) single nucleotide variant Fumarase deficiency [RCV001273817]|Hereditary cancer-predisposing syndrome [RCV001026656]|not provided [RCV002552415] Chr1:241506144 [GRCh38]
Chr1:241669444 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.818C>T (p.Ala273Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027257] Chr1:241506089 [GRCh38]
Chr1:241669389 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.42C>A (p.Leu14=) single nucleotide variant Fumarase deficiency [RCV001068742]|Hereditary cancer-predisposing syndrome [RCV002327358]|Hereditary leiomyomatosis and renal cell cancer [RCV005245720]|not provided [RCV002554552] Chr1:241519681 [GRCh38]
Chr1:241682981 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_000143.4(FH):c.508G>T (p.Gly170Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023520] Chr1:241512014 [GRCh38]
Chr1:241675314 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1202G>A (p.Gly401Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010204]|not provided [RCV002550757] Chr1:241502477 [GRCh38]
Chr1:241665777 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.-14G>C single nucleotide variant Fumarase deficiency [RCV001097378]|Hereditary leiomyomatosis and renal cell cancer [RCV001097377] Chr1:241519736 [GRCh38]
Chr1:241683036 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.234C>A (p.Asn78Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015256]|not provided [RCV002549414] Chr1:241517215 [GRCh38]
Chr1:241680515 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.243del (p.Ile81fs) deletion Hereditary cancer-predisposing syndrome [RCV001015542] Chr1:241517206 [GRCh38]
Chr1:241680506 [GRCh37]
Chr1:1q43		 pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NM_000143.4(FH):c.58G>A (p.Ala20Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024665]|not provided [RCV002550899] Chr1:241519665 [GRCh38]
Chr1:241682965 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.104C>G (p.Ser35Trp) single nucleotide variant Fumarase deficiency [RCV001827191]|Hereditary cancer-predisposing syndrome [RCV001017127]|not provided [RCV001574592] Chr1:241519619 [GRCh38]
Chr1:241682919 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1070T>C (p.Ile357Thr) single nucleotide variant Fumarase deficiency [RCV001273816]|Hereditary cancer-predisposing syndrome [RCV001017201]|not provided [RCV003769498] Chr1:241504080 [GRCh38]
Chr1:241667380 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1495G>A (p.Glu499Lys) single nucleotide variant Fumarase deficiency [RCV001326411]|Hereditary cancer-predisposing syndrome [RCV001011782]|not provided [RCV002549347]|not specified [RCV001585920] Chr1:241497866 [GRCh38]
Chr1:241661166 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1506A>G (p.Lys502=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011944] Chr1:241497855 [GRCh38]
Chr1:241661155 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.842C>T (p.Thr281Ile) single nucleotide variant Fumarase deficiency [RCV005394634]|Hereditary cancer-predisposing syndrome [RCV001017764]|not provided [RCV002549462] Chr1:241506065 [GRCh38]
Chr1:241669365 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.653T>G (p.Leu218Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025388] Chr1:241508688 [GRCh38]
Chr1:241671988 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.65T>G (p.Leu22Ter) single nucleotide variant Fumarase deficiency [RCV003461407]|Hereditary cancer-predisposing syndrome [RCV001025446]|not provided [RCV002508277] Chr1:241519658 [GRCh38]
Chr1:241682958 [GRCh37]
Chr1:1q43		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.874A>C (p.Lys292Gln) single nucleotide variant Fumarase deficiency [RCV001053290]|Hereditary cancer-predisposing syndrome [RCV001018267]|not provided [RCV002549474] Chr1:241506033 [GRCh38]
Chr1:241669333 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.308C>T (p.Ala103Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018556]|not provided [RCV001772194] Chr1:241513673 [GRCh38]
Chr1:241676973 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.8G>C (p.Arg3Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018625]|not provided [RCV002549481] Chr1:241519715 [GRCh38]
Chr1:241683015 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.904+2dup duplication Fumarase deficiency [RCV003461372]|Hereditary cancer-predisposing syndrome [RCV001018713]|not provided [RCV002549483] Chr1:241505999..241506000 [GRCh38]
Chr1:241669299..241669300 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.904+4A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018714] Chr1:241505999 [GRCh38]
Chr1:241669299 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.906C>T (p.Gly302=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018773]|not provided [RCV003546611] Chr1:241504244 [GRCh38]
Chr1:241667544 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1390+276G>A single nucleotide variant not provided [RCV001714522] Chr1:241500161 [GRCh38]
Chr1:241663461 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.784A>G (p.Ile262Val) single nucleotide variant Fumarase deficiency [RCV004570249]|Hereditary cancer-predisposing syndrome [RCV002411574]|not provided [RCV002553904] Chr1:241506123 [GRCh38]
Chr1:241669423 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1456_1458del (p.Ala486del) deletion not provided [RCV001590258] Chr1:241497903..241497905 [GRCh38]
Chr1:241661203..241661205 [GRCh37]
Chr1:1q43		 conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.267+235C>T single nucleotide variant not provided [RCV001665879] Chr1:241516947 [GRCh38]
Chr1:241680247 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1162A>G (p.Met388Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010056]|not provided [RCV002549308] Chr1:241502517 [GRCh38]
Chr1:241665817 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.120C>G (p.Asn40Lys) single nucleotide variant Fumarase deficiency [RCV001037079]|Hereditary cancer-predisposing syndrome [RCV001010297]|not provided [RCV002549316] Chr1:241519603 [GRCh38]
Chr1:241682903 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NC_000001.11:g.241497346CA[7] microsatellite not provided [RCV001662866] Chr1:241497346..241497347 [GRCh38]
Chr1:241660646..241660647 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1236+233T>C single nucleotide variant not provided [RCV001694466] Chr1:241502210 [GRCh38]
Chr1:241665510 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.267A>G (p.Pro89=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV004030545]|not provided [RCV002554465] Chr1:241517182 [GRCh38]
Chr1:241680482 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1306G>A (p.Val436Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010900]|not provided [RCV002551736] Chr1:241500521 [GRCh38]
Chr1:241663821 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.133G>T (p.Ala45Ser) single nucleotide variant Fumarase deficiency [RCV005021321]|Hereditary cancer-predisposing syndrome [RCV001010940]|not provided [RCV002549331] Chr1:241517316 [GRCh38]
Chr1:241680616 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.267+241C>T single nucleotide variant not provided [RCV001566250] Chr1:241516941 [GRCh38]
Chr1:241680241 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.317T>C (p.Val106Ala) single nucleotide variant Fumarase deficiency [RCV001832344]|Hereditary cancer-predisposing syndrome [RCV001019019]|not provided [RCV001766846] Chr1:241513664 [GRCh38]
Chr1:241676964 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.481G>A (p.Ala161Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023109]|not provided [RCV002550882] Chr1:241512041 [GRCh38]
Chr1:241675341 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.379-1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355081]|Hereditary leiomyomatosis and renal cell cancer [RCV004030597]|not provided [RCV002555850] Chr1:241512144 [GRCh38]
Chr1:241675444 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.555+206A>G single nucleotide variant not provided [RCV001585151] Chr1:241511761 [GRCh38]
Chr1:241675061 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.783A>G (p.Arg261=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026861]|not provided [RCV002551983] Chr1:241506124 [GRCh38]
Chr1:241669424 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.691A>G (p.Ile231Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004950335]|not provided [RCV002561677] Chr1:241508650 [GRCh38]
Chr1:241671950 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1196G>A (p.Ser399Asn) single nucleotide variant not provided [RCV002554511] Chr1:241502483 [GRCh38]
Chr1:241665783 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.410C>T (p.Pro137Leu) single nucleotide variant Fumarase deficiency [RCV001215674]|not provided [RCV001760194] Chr1:241512112 [GRCh38]
Chr1:241675412 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.123G>A (p.Ala41=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379898]|not provided [RCV002563838] Chr1:241519600 [GRCh38]
Chr1:241682900 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.496G>A (p.Gly166Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348780]|not provided [RCV002563775] Chr1:241512026 [GRCh38]
Chr1:241675326 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.163G>A (p.Asp55Asn) single nucleotide variant Fumarase deficiency [RCV001216082] Chr1:241517286 [GRCh38]
Chr1:241680586 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.469A>G (p.Ile157Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004950328]|not provided [RCV002561226] Chr1:241512053 [GRCh38]
Chr1:241675353 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.784A>C (p.Ile262Leu) single nucleotide variant not provided [RCV002561890] Chr1:241506123 [GRCh38]
Chr1:241669423 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.893_904+7del deletion Hereditary leiomyomatosis and renal cell cancer [RCV001027656]|not provided [RCV002511017] Chr1:241505996..241506014 [GRCh38]
Chr1:241669296..241669314 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.181A>C (p.Lys61Gln) single nucleotide variant Fumarase deficiency [RCV001230326] Chr1:241517268 [GRCh38]
Chr1:241680568 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.452T>C (p.Met151Thr) single nucleotide variant Fumarase deficiency [RCV001230001]|Hereditary cancer-predisposing syndrome [RCV002339629] Chr1:241512070 [GRCh38]
Chr1:241675370 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.378+6A>G single nucleotide variant Fumarase deficiency [RCV001050463]|not provided [RCV002553727] Chr1:241513597 [GRCh38]
Chr1:241676897 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.988A>G (p.Thr330Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160398]|not provided [RCV002553244] Chr1:241504162 [GRCh38]
Chr1:241667462 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1477A>G (p.Thr493Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393255]|not provided [RCV002553248] Chr1:241497884 [GRCh38]
Chr1:241661184 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1251A>C (p.Leu417Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010544] Chr1:241500576 [GRCh38]
Chr1:241663876 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.612T>G (p.His204Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256724]|not provided [RCV002570382]|not specified [RCV005232219] Chr1:241508729 [GRCh38]
Chr1:241672029 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.376G>T (p.Glu126Ter) single nucleotide variant not provided [RCV002552519] Chr1:241513605 [GRCh38]
Chr1:241676905 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1051T>A (p.Ser351Thr) single nucleotide variant not provided [RCV002553264] Chr1:241504099 [GRCh38]
Chr1:241667399 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1280C>T (p.Ser427Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010728]|not provided [RCV002549325] Chr1:241500547 [GRCh38]
Chr1:241663847 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.612T>A (p.His204Gln) single nucleotide variant not provided [RCV002561897] Chr1:241508729 [GRCh38]
Chr1:241672029 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1429A>G (p.Lys477Glu) single nucleotide variant not provided [RCV002561188] Chr1:241497932 [GRCh38]
Chr1:241661232 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.574C>T (p.Pro192Ser) single nucleotide variant Fumarase deficiency [RCV001100768]|Hereditary cancer-predisposing syndrome [RCV001024482]|Hereditary leiomyomatosis and renal cell cancer [RCV001098959]|not provided [RCV002551893] Chr1:241508767 [GRCh38]
Chr1:241672067 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.575C>T (p.Pro192Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024493]|not provided [RCV002551894] Chr1:241508766 [GRCh38]
Chr1:241672066 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.1108+1G>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005252118]|not provided [RCV002561872] Chr1:241504041 [GRCh38]
Chr1:241667341 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1398C>T (p.Asp466=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011359]|not provided [RCV002549339] Chr1:241497963 [GRCh38]
Chr1:241661263 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.183G>C (p.Lys61Asn) single nucleotide variant not provided [RCV002563812] Chr1:241517266 [GRCh38]
Chr1:241680566 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.378+5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951405]|not provided [RCV002563850] Chr1:241513598 [GRCh38]
Chr1:241676898 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.980C>T (p.Ala327Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339538]|not provided [RCV002562441] Chr1:241504170 [GRCh38]
Chr1:241667470 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.738+1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339546]|Hereditary leiomyomatosis and renal cell cancer [RCV003336355]|not provided [RCV002563813] Chr1:241508602 [GRCh38]
Chr1:241671902 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NC_000001.11:g.(?_241517172)_(241519722_?)dup duplication not provided [RCV003103890] Chr1:241680472..241683022 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.11:g.(?_241519581)_(241519732_?)del deletion Fumarase deficiency [RCV001032202] Chr1:241682881..241683032 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1109-3A>G single nucleotide variant not provided [RCV002561151] Chr1:241502573 [GRCh38]
Chr1:241665873 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.512G>A (p.Ser171Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348731]|not provided [RCV001780139] Chr1:241512010 [GRCh38]
Chr1:241675310 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.848T>C (p.Leu283Ser) single nucleotide variant not provided [RCV002551393] Chr1:241506059 [GRCh38]
Chr1:241669359 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1084G>A (p.Glu362Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002281646]|Hereditary leiomyomatosis and renal cell cancer [RCV003455187]|not provided [RCV002552593] Chr1:241504066 [GRCh38]
Chr1:241667366 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.67G>A (p.Ala23Thr) single nucleotide variant Fumarase deficiency [RCV001827208]|Hereditary cancer-predisposing syndrome [RCV001025670]|not provided [RCV002551934] Chr1:241519656 [GRCh38]
Chr1:241682956 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.697C>G (p.Arg233Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025872]|not provided [RCV002551940] Chr1:241508644 [GRCh38]
Chr1:241671944 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.272C>T (p.Pro91Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436829]|not provided [RCV002561911] Chr1:241513709 [GRCh38]
Chr1:241677009 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.11:g.(?_241508593)_(241513723_?)del deletion not provided [RCV003103894] Chr1:241671893..241677023 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.704A>G (p.His235Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002365686]|not provided [RCV001784597] Chr1:241508637 [GRCh38]
Chr1:241671937 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.824_827dup (p.Thr277fs) duplication Hereditary cancer-predisposing syndrome [RCV002429988]|Hereditary leiomyomatosis and renal cell cancer [RCV003142196]|not provided [RCV002563210] Chr1:241506079..241506080 [GRCh38]
Chr1:241669379..241669380 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.738+4T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026355] Chr1:241508599 [GRCh38]
Chr1:241671899 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1474C>G (p.Leu492Val) single nucleotide variant Fumarase deficiency [RCV001034756]|Hereditary cancer-predisposing syndrome [RCV002391089]|not provided [RCV002552061] Chr1:241497887 [GRCh38]
Chr1:241661187 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.788A>C (p.Lys263Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026914]|not provided [RCV001759921] Chr1:241506119 [GRCh38]
Chr1:241669419 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.792T>C (p.Ala264=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026966]|Hereditary leiomyomatosis and renal cell cancer [RCV005245709]|not provided [RCV002552420] Chr1:241506115 [GRCh38]
Chr1:241669415 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.*211G>C single nucleotide variant Fumarase deficiency [RCV001102507]|Hereditary leiomyomatosis and renal cell cancer [RCV001102506] Chr1:241497617 [GRCh38]
Chr1:241660917 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.486T>C (p.Ile162=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023179] Chr1:241512036 [GRCh38]
Chr1:241675336 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.201T>A (p.Tyr67Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014112] Chr1:241517248 [GRCh38]
Chr1:241680548 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.199TAT[1] (p.Tyr68del) microsatellite Hereditary cancer-predisposing syndrome [RCV001014114] Chr1:241517245..241517247 [GRCh38]
Chr1:241680545..241680547 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.140_147del (p.Gln47fs) deletion not provided [RCV001008066] Chr1:241517302..241517309 [GRCh38]
Chr1:241680602..241680609 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.378G>C (p.Glu126Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021145] Chr1:241513603 [GRCh38]
Chr1:241676903 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1240A>T (p.Lys414Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010521]|Hereditary leiomyomatosis and renal cell cancer [RCV002282425]|not provided [RCV002549320] Chr1:241500587 [GRCh38]
Chr1:241663887 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1172A>C (p.His391Pro) single nucleotide variant not provided [RCV002561091] Chr1:241502507 [GRCh38]
Chr1:241665807 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.240G>A (p.Lys80=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015442]|Hereditary leiomyomatosis and renal cell cancer [RCV005245635]|not provided [RCV002550806] Chr1:241517209 [GRCh38]
Chr1:241680509 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity
NC_000001.11:g.(?_241497818)_(241502580_?)del deletion Fumarase deficiency [RCV001033601]|not provided [RCV003117710] Chr1:241661118..241665880 [GRCh37]
Chr1:1q43		 pathogenic|no classifications from unflagged records
NM_000143.4(FH):c.1227G>A (p.Lys409=) single nucleotide variant FH-related disorder [RCV004555610]|Hereditary cancer-predisposing syndrome [RCV001010436]|Hereditary leiomyomatosis and renal cell cancer [RCV005249471]|not provided [RCV002549317] Chr1:241502452 [GRCh38]
Chr1:241665752 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.260G>A (p.Arg87His) single nucleotide variant Fumarase deficiency [RCV001051373]|Hereditary cancer-predisposing syndrome [RCV001016095]|Hereditary leiomyomatosis and renal cell cancer [RCV004789337]|Ovarian cancer [RCV003153886]|not provided [RCV002550814] Chr1:241517189 [GRCh38]
Chr1:241680489 [GRCh37]
Chr1:1q43		 likely pathogenic|likely benign|uncertain significance
NC_000001.11:g.(?_241497828)_(241519722_?)dup duplication Fumarase deficiency [RCV001031034] Chr1:241661128..241683022 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.275TTA[1] (p.Ile93del) microsatellite Hereditary cancer-predisposing syndrome [RCV001016588] Chr1:241513701..241513703 [GRCh38]
Chr1:241677001..241677003 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.410C>G (p.Pro137Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003346373]|not provided [RCV002561813] Chr1:241512112 [GRCh38]
Chr1:241675412 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.47G>C (p.Arg16Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023079] Chr1:241519676 [GRCh38]
Chr1:241682976 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1000A>G (p.Ser334Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009653]|not provided [RCV002549302] Chr1:241504150 [GRCh38]
Chr1:241667450 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1028G>A (p.Arg343Gln) single nucleotide variant Fumarase deficiency [RCV001214537]|Hereditary cancer-predisposing syndrome [RCV001017058]|not provided [RCV002549447] Chr1:241504122 [GRCh38]
Chr1:241667422 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1390G>A (p.Gly464Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011297] Chr1:241500437 [GRCh38]
Chr1:241663737 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1128G>T (p.Gln376His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017415]|not provided [RCV002550828] Chr1:241502551 [GRCh38]
Chr1:241665851 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.831T>C (p.Thr277=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017545]|Hereditary leiomyomatosis and renal cell cancer [RCV005245647]|not provided [RCV002550830] Chr1:241506076 [GRCh38]
Chr1:241669376 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.294C>G (p.Ile98Met) single nucleotide variant Fumarase deficiency [RCV001274350]|Hereditary cancer-predisposing syndrome [RCV001017627]|not provided [RCV003104006] Chr1:241513687 [GRCh38]
Chr1:241676987 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.59C>T (p.Ala20Val) single nucleotide variant Fumarase deficiency [RCV001832358]|Hereditary cancer-predisposing syndrome [RCV001024776]|not provided [RCV002551905] Chr1:241519664 [GRCh38]
Chr1:241682964 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.600A>C (p.Ala200=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024800]|not provided [RCV002552389] Chr1:241508741 [GRCh38]
Chr1:241672041 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.846T>C (p.Gly282=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017854]|not provided [RCV003769504] Chr1:241506061 [GRCh38]
Chr1:241669361 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.2T>C (p.Met1Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017952]|not provided [RCV002551805] Chr1:241519721 [GRCh38]
Chr1:241683021 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.557del (p.Ser186fs) deletion not provided [RCV002561766] Chr1:241508784 [GRCh38]
Chr1:241672084 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.44T>C (p.Val15Ala) single nucleotide variant Fumarase deficiency [RCV001204220]|not provided [RCV002561147] Chr1:241519679 [GRCh38]
Chr1:241682979 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.663dup (p.Ser222fs) duplication Hereditary cancer-predisposing syndrome [RCV001025484] Chr1:241508677..241508678 [GRCh38]
Chr1:241671977..241671978 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.905-5T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018726] Chr1:241504250 [GRCh38]
Chr1:241667550 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1391-2A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393506]|not provided [RCV001780135] Chr1:241497972 [GRCh38]
Chr1:241661272 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup) duplication Fumarase deficiency [RCV001042383]|Hereditary cancer-predisposing syndrome [RCV002427510]|not provided [RCV002551514] Chr1:241519679..241519680 [GRCh38]
Chr1:241682979..241682980 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.596C>G (p.Ala199Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004950117]|Microcephaly [RCV001252752] Chr1:241508745 [GRCh38]
Chr1:241672045 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.202T>C (p.Tyr68His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004944958] Chr1:241517247 [GRCh38]
Chr1:241680547 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:241496526-241885359)x3 copy number gain not provided [RCV001259121] Chr1:241496526..241885359 [GRCh37]
Chr1:1q43		 likely benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_000143.4(FH):c.730C>T (p.Leu244Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382500]|not provided [RCV002280502] Chr1:241508611 [GRCh38]
Chr1:241671911 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.125C>T (p.Ala42Val) single nucleotide variant not provided [RCV003103968] Chr1:241519598 [GRCh38]
Chr1:241682898 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.941C>G (p.Ala314Gly) single nucleotide variant not provided [RCV002545624]|not specified [RCV005232283] Chr1:241504209 [GRCh38]
Chr1:241667509 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.718G>C (p.Val240Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004042926]|not provided [RCV002562750] Chr1:241508623 [GRCh38]
Chr1:241671923 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-14_1237-13insTCTCTCTCTC insertion none provided [RCV001285958] Chr1:241500603..241500604 [GRCh38]
Chr1:241663903..241663904 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.904+13G>A single nucleotide variant not provided [RCV001810667] Chr1:241505990 [GRCh38]
Chr1:241669290 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.601A>G (p.Ile201Val) single nucleotide variant Fumarase deficiency [RCV001326843]|Hereditary cancer-predisposing syndrome [RCV005340793]|not provided [RCV002546202] Chr1:241508740 [GRCh38]
Chr1:241672040 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.184G>A (p.Val62Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413827]|not provided [RCV002548469] Chr1:241517265 [GRCh38]
Chr1:241680565 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1240A>G (p.Lys414Glu) single nucleotide variant not provided [RCV002543133] Chr1:241500587 [GRCh38]
Chr1:241663887 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1124C>T (p.Thr375Ile) single nucleotide variant not provided [RCV001780246] Chr1:241502555 [GRCh38]
Chr1:241665855 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.1415C>A (p.Ala472Asp) single nucleotide variant not provided [RCV002547565] Chr1:241497946 [GRCh38]
Chr1:241661246 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.104C>T (p.Ser35Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402840]|not provided [RCV001760354]|not specified [RCV003493843] Chr1:241519619 [GRCh38]
Chr1:241682919 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1411A>T (p.Ile471Phe) single nucleotide variant not provided [RCV002541874] Chr1:241497950 [GRCh38]
Chr1:241661250 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.284C>T (p.Ala95Val) single nucleotide variant Fumarase deficiency [RCV001320190]|not provided [RCV002546075] Chr1:241513697 [GRCh38]
Chr1:241676997 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1347G>C (p.Met449Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384360]|Hereditary leiomyomatosis and renal cell cancer [RCV004793396]|not provided [RCV002539479] Chr1:241500480 [GRCh38]
Chr1:241663780 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1108G>C (p.Gly370Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456480]|not provided [RCV002546908] Chr1:241504042 [GRCh38]
Chr1:241667342 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.1516A>G (p.Met506Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951531]|not provided [RCV002543824] Chr1:241497845 [GRCh38]
Chr1:241661145 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1083T>G (p.Asn361Lys) single nucleotide variant not provided [RCV002546813] Chr1:241504067 [GRCh38]
Chr1:241667367 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1200T>G (p.Asn400Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350651]|not provided [RCV002545608] Chr1:241502479 [GRCh38]
Chr1:241665779 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.110G>C (p.Trp37Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004035957]|not provided [RCV003104040] Chr1:241519613 [GRCh38]
Chr1:241682913 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.535G>T (p.Asp179Tyr) single nucleotide variant not provided [RCV002547371] Chr1:241511987 [GRCh38]
Chr1:241675287 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1340A>G (p.Lys447Arg) single nucleotide variant Fumarase deficiency [RCV001362377]|Hereditary cancer-predisposing syndrome [RCV003169810]|not provided [RCV002548540] Chr1:241500487 [GRCh38]
Chr1:241663787 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1280del (p.Ala426_Ser427insTer) deletion not provided [RCV003104063] Chr1:241500547 [GRCh38]
Chr1:241663847 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.370G>A (p.Ala124Thr) single nucleotide variant Fumarase deficiency [RCV001297602]|Hereditary cancer-predisposing syndrome [RCV004951455]|not provided [RCV002538492] Chr1:241513611 [GRCh38]
Chr1:241676911 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.648T>G (p.Asp216Glu) single nucleotide variant Fumarase deficiency [RCV001352503]|Fumarase deficiency [RCV005014473]|Hereditary cancer-predisposing syndrome [RCV003339610]|not provided [RCV002547560] Chr1:241508693 [GRCh38]
Chr1:241671993 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.15T>G (p.Leu5=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404910]|not provided [RCV002551592] Chr1:241519708 [GRCh38]
Chr1:241683008 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1410G>A (p.Lys470=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005245990]|not provided [RCV003104100] Chr1:241497951 [GRCh38]
Chr1:241661251 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.749G>T (p.Gly250Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395792]|not provided [RCV002548534] Chr1:241506158 [GRCh38]
Chr1:241669458 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.33G>T (p.Ser11=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456619]|Hereditary leiomyomatosis and renal cell cancer [RCV005245852]|not provided [RCV002551619] Chr1:241519690 [GRCh38]
Chr1:241682990 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1149T>G (p.Val383=) single nucleotide variant not provided [RCV002555531] Chr1:241502530 [GRCh38]
Chr1:241665830 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.57C>A (p.Ala19=) single nucleotide variant not provided [RCV002550099] Chr1:241519666 [GRCh38]
Chr1:241682966 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1177G>C (p.Ala393Pro) single nucleotide variant not provided [RCV002550101] Chr1:241502502 [GRCh38]
Chr1:241665802 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.109del (p.Trp37fs) deletion not provided [RCV002550271] Chr1:241519614 [GRCh38]
Chr1:241682914 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.340C>A (p.Pro114Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004035251]|not provided [RCV002546228] Chr1:241513641 [GRCh38]
Chr1:241676941 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.203A>G (p.Tyr68Cys) single nucleotide variant Fumarase deficiency [RCV001370748]|Hereditary cancer-predisposing syndrome [RCV002420831]|not provided [RCV001762647] Chr1:241517246 [GRCh38]
Chr1:241680546 [GRCh37]
Chr1:1q43		 conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.887A>G (p.Lys296Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005340760]|not provided [RCV002539534] Chr1:241506020 [GRCh38]
Chr1:241669320 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1108+7A>G single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005245861]|not provided [RCV002552694] Chr1:241504035 [GRCh38]
Chr1:241667335 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.39C>A (p.Pro13=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358926]|not provided [RCV002554051] Chr1:241519684 [GRCh38]
Chr1:241682984 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.974G>A (p.Ser325Asn) single nucleotide variant not provided [RCV002548546] Chr1:241504176 [GRCh38]
Chr1:241667476 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1390+5G>A single nucleotide variant Fumarase deficiency [RCV001373130]|Hereditary cancer-predisposing syndrome [RCV004619679]|not provided [RCV002548668] Chr1:241500432 [GRCh38]
Chr1:241663732 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.448A>C (p.Asn150His) single nucleotide variant not provided [RCV002546990] Chr1:241512074 [GRCh38]
Chr1:241675374 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1508C>G (p.Pro503Arg) single nucleotide variant Fumarase deficiency [RCV005014462]|Hereditary cancer-predisposing syndrome [RCV002395762]|not provided [RCV002547060] Chr1:241497853 [GRCh38]
Chr1:241661153 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1441A>G (p.Thr481Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951630]|not provided [RCV002550082] Chr1:241497920 [GRCh38]
Chr1:241661220 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.52C>G (p.Pro18Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350561]|not provided [RCV002543525] Chr1:241519671 [GRCh38]
Chr1:241682971 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.979G>A (p.Ala327Thr) single nucleotide variant Fumarase deficiency [RCV001346594]|Hereditary cancer-predisposing syndrome [RCV002377470]|not provided [RCV002547064] Chr1:241504171 [GRCh38]
Chr1:241667471 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.48G>A (p.Arg16=) single nucleotide variant not provided [RCV002547065] Chr1:241519675 [GRCh38]
Chr1:241682975 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.580G>T (p.Ala194Ser) single nucleotide variant FH-related disorder [RCV004555621]|not provided [RCV002550130] Chr1:241508761 [GRCh38]
Chr1:241672061 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.803G>T (p.Arg268Ile) single nucleotide variant not provided [RCV003106221] Chr1:241506104 [GRCh38]
Chr1:241669404 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1501G>A (p.Val501Ile) single nucleotide variant Fumarase deficiency [RCV004570792]|Hereditary cancer-predisposing syndrome [RCV002395722]|not provided [RCV002546179] Chr1:241497860 [GRCh38]
Chr1:241661160 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.367G>C (p.Ala123Pro) single nucleotide variant Fumarase deficiency [RCV001327400] Chr1:241513614 [GRCh38]
Chr1:241676914 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241661128)_(241683022_?)dup duplication Fumarase deficiency [RCV001318735] Chr1:241661128..241683022 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1243A>G (p.Asn415Asp) single nucleotide variant Malignant tumor of breast [RCV001269356] Chr1:241500584 [GRCh38]
Chr1:241663884 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.415G>C (p.Val139Leu) single nucleotide variant not provided [RCV002547438] Chr1:241512107 [GRCh38]
Chr1:241675407 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1028G>C (p.Arg343Pro) single nucleotide variant not provided [RCV002550185] Chr1:241504122 [GRCh38]
Chr1:241667422 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1259C>A (p.Ala420Asp) single nucleotide variant not provided [RCV002543763] Chr1:241500568 [GRCh38]
Chr1:241663868 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.495AGG[1] (p.Gly167del) microsatellite not provided [RCV002543537] Chr1:241512022..241512024 [GRCh38]
Chr1:241675322..241675324 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.492G>C (p.Met164Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341671]|not provided [RCV002543856] Chr1:241512030 [GRCh38]
Chr1:241675330 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.151C>A (p.Arg51=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395738]|Hereditary leiomyomatosis and renal cell cancer [RCV005245823]|not provided [RCV002547375]|not specified [RCV003320826] Chr1:241517298 [GRCh38]
Chr1:241680598 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_000143.4(FH):c.1497del (p.Glu499fs) deletion not provided [RCV003104022] Chr1:241497864 [GRCh38]
Chr1:241661164 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.1069A>G (p.Ile357Val) single nucleotide variant Fumarase deficiency [RCV001280070]|Hereditary cancer-predisposing syndrome [RCV002411925]|not provided [RCV003727974] Chr1:241504081 [GRCh38]
Chr1:241667381 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.254C>G (p.Thr85Arg) single nucleotide variant Fumarase deficiency [RCV001322322]|Fumarase deficiency [RCV005014417]|Hereditary cancer-predisposing syndrome [RCV002438735]|not provided [RCV002546095] Chr1:241517195 [GRCh38]
Chr1:241680495 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.292A>G (p.Ile98Val) single nucleotide variant Fumarase deficiency [RCV005014465]|Hereditary cancer-predisposing syndrome [RCV003169701]|not provided [RCV002547082] Chr1:241513689 [GRCh38]
Chr1:241676989 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:240857677-243316822)x3 copy number gain Autism [RCV002284315] Chr1:240857677..243316822 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1176_1181del (p.Ala393_Val394del) deletion Hereditary cancer-predisposing syndrome [RCV004619615]|not provided [RCV002545023] Chr1:241502498..241502503 [GRCh38]
Chr1:241665798..241665803 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.589A>C (p.Ile197Leu) single nucleotide variant not provided [RCV002543512] Chr1:241508752 [GRCh38]
Chr1:241672052 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.599C>T (p.Ala200Val) single nucleotide variant Fumarase deficiency [RCV001317256]|not provided [RCV002543721] Chr1:241508742 [GRCh38]
Chr1:241672042 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1055G>A (p.Gly352Asp) single nucleotide variant not provided [RCV002543724] Chr1:241504095 [GRCh38]
Chr1:241667395 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1261A>G (p.Arg421Gly) single nucleotide variant not provided [RCV002547035] Chr1:241500566 [GRCh38]
Chr1:241663866 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.206G>A (p.Gly69Asp) single nucleotide variant not provided [RCV003104026] Chr1:241517243 [GRCh38]
Chr1:241680543 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1071C>G (p.Ile357Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294202]|not provided [RCV002543042] Chr1:241504079 [GRCh38]
Chr1:241667379 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1188C>T (p.Val396=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341914]|Hereditary leiomyomatosis and renal cell cancer [RCV005245936]|not provided [RCV002554105] Chr1:241502491 [GRCh38]
Chr1:241665791 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.638A>G (p.Lys213Arg) single nucleotide variant not provided [RCV002546129] Chr1:241508703 [GRCh38]
Chr1:241672003 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1532G>C (p.Ter511Ser) single nucleotide variant not provided [RCV003104052] Chr1:241497829 [GRCh38]
Chr1:241661129 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1259C>T (p.Ala420Val) single nucleotide variant Fumarase deficiency [RCV001305118]|Fumarase deficiency [RCV002486186]|Hereditary cancer-predisposing syndrome [RCV003166728]|not provided [RCV002543121] Chr1:241500568 [GRCh38]
Chr1:241663868 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.434C>T (p.Ser145Leu) single nucleotide variant not provided [RCV002545027] Chr1:241512088 [GRCh38]
Chr1:241675388 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.170T>C (p.Phe57Ser) single nucleotide variant not provided [RCV002546810] Chr1:241517279 [GRCh38]
Chr1:241680579 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.4T>A (p.Tyr2Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004035857]|not provided [RCV002547376] Chr1:241519719 [GRCh38]
Chr1:241683019 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1361T>C (p.Met454Thr) single nucleotide variant not provided [RCV002548592] Chr1:241500466 [GRCh38]
Chr1:241663766 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1109-4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256759]|not provided [RCV002552673] Chr1:241502574 [GRCh38]
Chr1:241665874 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.438A>T (p.Gly146=) single nucleotide variant not provided [RCV003103983] Chr1:241512084 [GRCh38]
Chr1:241675384 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1390+6T>A single nucleotide variant Fumarase deficiency [RCV001360945]|not provided [RCV002547761] Chr1:241500431 [GRCh38]
Chr1:241663731 [GRCh37]
Chr1:1q43		 conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1167G>A (p.Gly389=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329447]|Hereditary leiomyomatosis and renal cell cancer [RCV005245902]|not provided [RCV002554035] Chr1:241502512 [GRCh38]
Chr1:241665812 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.448A>G (p.Asn150Asp) single nucleotide variant not provided [RCV002544999] Chr1:241512074 [GRCh38]
Chr1:241675374 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.239A>C (p.Lys80Thr) single nucleotide variant Fumarase deficiency [RCV001326221]|Hereditary cancer-predisposing syndrome [RCV003166913]|not provided [RCV002546165] Chr1:241517210 [GRCh38]
Chr1:241680510 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1170C>G (p.Asn390Lys) single nucleotide variant not provided [RCV002546833] Chr1:241502509 [GRCh38]
Chr1:241665809 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43-44(chr1:240554955-247342593) copy number loss Corpus callosum, agenesis of [RCV001352645] Chr1:240554955..247342593 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_000143.4(FH):c.904G>A (p.Gly302Ser) single nucleotide variant Fumarase deficiency [RCV001299094]|Hereditary cancer-predisposing syndrome [RCV002375352]|not provided [RCV002541881] Chr1:241506003 [GRCh38]
Chr1:241669303 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241661078)_241663787del deletion Fumarase deficiency [RCV001384692]   pathogenic
NM_000143.4(FH):c.619C>T (p.Leu207=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368352]|Hereditary leiomyomatosis and renal cell cancer [RCV005246017]|not provided [RCV002555555] Chr1:241508722 [GRCh38]
Chr1:241672022 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.823G>T (p.Gly275Ter) single nucleotide variant not provided [RCV002551559] Chr1:241506084 [GRCh38]
Chr1:241669384 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1197C>T (p.Ser399=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004038231]|Hereditary leiomyomatosis and renal cell cancer [RCV005245950]|not provided [RCV002555130] Chr1:241502482 [GRCh38]
Chr1:241665782 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.900T>A (p.Leu300=) single nucleotide variant not provided [RCV002555556] Chr1:241506007 [GRCh38]
Chr1:241669307 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.714T>C (p.Asp238=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368480]|not provided [RCV003104127] Chr1:241508627 [GRCh38]
Chr1:241671927 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.132+7G>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247253]|not provided [RCV002563348] Chr1:241519584 [GRCh38]
Chr1:241682884 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.133-8G>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247192]|not provided [RCV002562695] Chr1:241517324 [GRCh38]
Chr1:241680624 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.741A>G (p.Glu247=) single nucleotide variant not provided [RCV002563282] Chr1:241506166 [GRCh38]
Chr1:241669466 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.951T>C (p.Ala317=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377680]|not provided [RCV002555516] Chr1:241504199 [GRCh38]
Chr1:241667499 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.32_69del (p.Ser11fs) deletion not provided [RCV002551574] Chr1:241519654..241519691 [GRCh38]
Chr1:241682954..241682991 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1041T>C (p.Ser347=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396091]|Hereditary leiomyomatosis and renal cell cancer [RCV005247115]|not provided [RCV002560378] Chr1:241504109 [GRCh38]
Chr1:241667409 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.219G>A (p.Val73=) single nucleotide variant not provided [RCV001751779] Chr1:241517230 [GRCh38]
Chr1:241680530 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.636G>A (p.Gln212=) single nucleotide variant not provided [RCV002562643] Chr1:241508705 [GRCh38]
Chr1:241672005 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1254C>T (p.His418=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246013]|not provided [RCV002555541] Chr1:241500573 [GRCh38]
Chr1:241663873 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.42C>T (p.Leu14=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160762]|Hereditary leiomyomatosis and renal cell cancer [RCV005246021]|not provided [RCV002555566] Chr1:241519681 [GRCh38]
Chr1:241682981 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1152A>C (p.Ala384=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951784]|Hereditary leiomyomatosis and renal cell cancer [RCV005246088]|not provided [RCV002561255] Chr1:241502527 [GRCh38]
Chr1:241665827 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1479A>G (p.Thr493=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259131]|Hereditary leiomyomatosis and renal cell cancer [RCV005247167]|not provided [RCV002561996] Chr1:241497882 [GRCh38]
Chr1:241661182 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.543T>C (p.Val181=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951671]|not provided [RCV003104075] Chr1:241511979 [GRCh38]
Chr1:241675279 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1037G>A (p.Gly346Asp) single nucleotide variant not provided [RCV001780293] Chr1:241504113 [GRCh38]
Chr1:241667413 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.621G>A (p.Leu207=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368251]|Hereditary leiomyomatosis and renal cell cancer [RCV005245862]|not provided [RCV002552703] Chr1:241508720 [GRCh38]
Chr1:241672020 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.480A>G (p.Arg160=) single nucleotide variant not provided [RCV002560364] Chr1:241512042 [GRCh38]
Chr1:241675342 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.558C>T (p.Ser186=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350922]|Hereditary leiomyomatosis and renal cell cancer [RCV005247088]|not provided [RCV002560338] Chr1:241508783 [GRCh38]
Chr1:241672083 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.204T>C (p.Tyr68=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420966]|Hereditary leiomyomatosis and renal cell cancer [RCV005245970]|not provided [RCV002555155] Chr1:241517245 [GRCh38]
Chr1:241680545 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1457C>A (p.Ala486Asp) single nucleotide variant not provided [RCV002551556] Chr1:241497904 [GRCh38]
Chr1:241661204 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.950C>T (p.Ala317Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298632]|not provided [RCV002551557] Chr1:241504200 [GRCh38]
Chr1:241667500 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1342C>T (p.Leu448=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160799]|Hereditary leiomyomatosis and renal cell cancer [RCV005246047]|not provided [RCV002559331] Chr1:241500485 [GRCh38]
Chr1:241663785 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.459A>G (p.Val153=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246048]|not provided [RCV002560318] Chr1:241512063 [GRCh38]
Chr1:241675363 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1259_1262dup (p.Arg421fs) duplication not provided [RCV002551547] Chr1:241500564..241500565 [GRCh38]
Chr1:241663864..241663865 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.555+22dup duplication not provided [RCV001540130]|not specified [RCV002465883] Chr1:241511939..241511940 [GRCh38]
Chr1:241675239..241675240 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.774A>T (p.Ala258=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246038]|not provided [RCV002559309] Chr1:241506133 [GRCh38]
Chr1:241669433 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.735_736delinsTT (p.Gln246Ter) indel not provided [RCV002550968] Chr1:241508605..241508606 [GRCh38]
Chr1:241671905..241671906 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.953A>T (p.His318Leu) single nucleotide variant not provided [RCV001780294] Chr1:241504197 [GRCh38]
Chr1:241667497 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.936del (p.Phe312fs) deletion not provided [RCV003104067] Chr1:241504214 [GRCh38]
Chr1:241667514 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.498A>G (p.Gly166=) single nucleotide variant not provided [RCV003104108] Chr1:241512024 [GRCh38]
Chr1:241675324 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.688A>C (p.Lys230Gln) single nucleotide variant not provided [RCV002551543] Chr1:241508653 [GRCh38]
Chr1:241671953 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.102del (p.Ser35fs) deletion not provided [RCV002550967] Chr1:241519621 [GRCh38]
Chr1:241682921 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.900T>C (p.Leu300=) single nucleotide variant not provided [RCV002555544] Chr1:241506007 [GRCh38]
Chr1:241669307 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1457del (p.Ala486fs) deletion not provided [RCV002551571] Chr1:241497904 [GRCh38]
Chr1:241661204 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.576C>A (p.Pro192=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358993]|Hereditary leiomyomatosis and renal cell cancer [RCV005246041]|not provided [RCV002560315] Chr1:241508765 [GRCh38]
Chr1:241672065 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.720T>C (p.Val240=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004038477]|not provided [RCV002557514] Chr1:241508621 [GRCh38]
Chr1:241671921 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1002T>C (p.Ser334=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395898]|Hereditary leiomyomatosis and renal cell cancer [RCV005245864]|not provided [RCV002552704] Chr1:241504148 [GRCh38]
Chr1:241667448 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.21C>G (p.Leu7=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432085]|not provided [RCV002551602] Chr1:241519702 [GRCh38]
Chr1:241683002 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.102_120del (p.Ser35fs) deletion not provided [RCV002551540] Chr1:241519603..241519621 [GRCh38]
Chr1:241682903..241682921 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.734_735del (p.Gly245fs) deletion not provided [RCV002551576] Chr1:241508606..241508607 [GRCh38]
Chr1:241671906..241671907 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1499G>A (p.Trp500Ter) single nucleotide variant not provided [RCV001780378] Chr1:241497862 [GRCh38]
Chr1:241661162 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.827G>A (p.Gly276Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432063]|not provided [RCV002550251] Chr1:241506080 [GRCh38]
Chr1:241669380 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.123G>C (p.Ala41=) single nucleotide variant not provided [RCV002552705] Chr1:241519600 [GRCh38]
Chr1:241682900 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1391-1_1391delinsTT indel not provided [RCV003771257] Chr1:241497970..241497971 [GRCh38]
Chr1:241661270..241661271 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCTCTCT microsatellite not provided [RCV002554019] Chr1:241500598..241500599 [GRCh38]
Chr1:241663898..241663899 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1521G>A (p.Leu507=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395984]|Hereditary leiomyomatosis and renal cell cancer [RCV005245972]|not provided [RCV002555157] Chr1:241497840 [GRCh38]
Chr1:241661140 [GRCh37]
Chr1:1q43		 benign|likely benign
NC_000001.10:g.(?_241682881)_(241683022_?)del deletion not provided [RCV003104069] Chr1:241682881..241683022 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.11:g.241497971del deletion not provided [RCV002551544] Chr1:241497969 [GRCh38]
Chr1:241661269 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.795C>T (p.Ala265=) single nucleotide variant not provided [RCV002554020] Chr1:241506112 [GRCh38]
Chr1:241669412 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.943C>T (p.Leu315=) single nucleotide variant not provided [RCV002555559] Chr1:241504207 [GRCh38]
Chr1:241667507 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.267+7G>A single nucleotide variant FH-related disorder [RCV004728721]|Hereditary leiomyomatosis and renal cell cancer [RCV005245985]|not provided [RCV002555177] Chr1:241517175 [GRCh38]
Chr1:241680475 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.330T>C (p.Tyr110=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458477]|Hereditary leiomyomatosis and renal cell cancer [RCV005247252]|not provided [RCV002563345] Chr1:241513651 [GRCh38]
Chr1:241676951 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.912T>C (p.Pro304=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377853]|not provided [RCV002564144] Chr1:241504238 [GRCh38]
Chr1:241667538 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1390+261T>C single nucleotide variant not provided [RCV001612741] Chr1:241500176 [GRCh38]
Chr1:241663476 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.189A>C (p.Pro63=) single nucleotide variant not provided [RCV002561939] Chr1:241517260 [GRCh38]
Chr1:241680560 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1467T>C (p.Leu489=) single nucleotide variant FH-related disorder [RCV004555623]|Hereditary cancer-predisposing syndrome [RCV005341009]|not provided [RCV002567958] Chr1:241497894 [GRCh38]
Chr1:241661194 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.435A>G (p.Ser145=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329634]|Hereditary leiomyomatosis and renal cell cancer [RCV005247251]|not provided [RCV002563343] Chr1:241512087 [GRCh38]
Chr1:241675387 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.885A>G (p.Ala295=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377814]|not provided [RCV002562641] Chr1:241506022 [GRCh38]
Chr1:241669322 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.375T>C (p.Asp125=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004037169]|Hereditary leiomyomatosis and renal cell cancer [RCV005247164]|not provided [RCV002561989] Chr1:241513606 [GRCh38]
Chr1:241676906 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.807C>T (p.Ile269=) single nucleotide variant not provided [RCV002560355] Chr1:241506100 [GRCh38]
Chr1:241669400 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.576C>G (p.Pro192=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298806]|Hereditary leiomyomatosis and renal cell cancer [RCV005247116]|not provided [RCV002560379] Chr1:241508765 [GRCh38]
Chr1:241672065 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000143.4(FH):c.556-6C>T single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247201]|not provided [RCV002562712] Chr1:241508791 [GRCh38]
Chr1:241672091 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1338C>T (p.Asn446=) single nucleotide variant FH-related disorder [RCV004734215]|Hereditary cancer-predisposing syndrome [RCV002384833]|Hereditary leiomyomatosis and renal cell cancer [RCV005247231]|not provided [RCV002563306] Chr1:241500489 [GRCh38]
Chr1:241663789 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.12A>T (p.Ala4=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246087]|not provided [RCV002557556] Chr1:241519711 [GRCh38]
Chr1:241683011 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1108+109G>A single nucleotide variant not provided [RCV001686104] Chr1:241503933 [GRCh38]
Chr1:241667233 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1249T>C (p.Leu417=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258267]|Hereditary leiomyomatosis and renal cell cancer [RCV005246080]|not provided [RCV002557544] Chr1:241500578 [GRCh38]
Chr1:241663878 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.267+1G>T single nucleotide variant not provided [RCV002550278] Chr1:241517181 [GRCh38]
Chr1:241680481 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.739-9T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247128]|not provided [RCV002561285] Chr1:241506177 [GRCh38]
Chr1:241669477 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1205A>T (p.His402Leu) single nucleotide variant not provided [RCV003104060] Chr1:241502474 [GRCh38]
Chr1:241665774 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1401G>A (p.Lys467=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396047]|Hereditary leiomyomatosis and renal cell cancer [RCV005246069]|not provided [RCV002557533] Chr1:241497960 [GRCh38]
Chr1:241661260 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1326A>G (p.Thr442=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247136]|not provided [RCV002561298]|not specified [RCV003320839] Chr1:241500501 [GRCh38]
Chr1:241663801 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.735G>C (p.Gly245=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384752]|not provided [RCV003104120] Chr1:241508606 [GRCh38]
Chr1:241671906 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCTCTCTCT microsatellite not provided [RCV002563318] Chr1:241500598..241500599 [GRCh38]
Chr1:241663898..241663899 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1269G>A (p.Leu423=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004037151]|not provided [RCV002562634] Chr1:241500558 [GRCh38]
Chr1:241663858 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.168C>T (p.Thr56=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405083]|Hereditary leiomyomatosis and renal cell cancer [RCV005247109]|not provided [RCV002561928]|not specified [RCV003151325] Chr1:241517281 [GRCh38]
Chr1:241680581 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.723A>G (p.Pro241=) single nucleotide variant not provided [RCV002557541] Chr1:241508618 [GRCh38]
Chr1:241671918 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-14_1237-5del deletion FH-related disorder [RCV004734200]|Hereditary cancer-predisposing syndrome [RCV003160870]|Hereditary leiomyomatosis and renal cell cancer [RCV005247108]|not provided [RCV002560367] Chr1:241500595..241500604 [GRCh38]
Chr1:241663895..241663904 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.54A>T (p.Pro18=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004616726]|not provided [RCV003104096] Chr1:241519669 [GRCh38]
Chr1:241682969 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.2T>A (p.Met1Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169938]|not provided [RCV002550252] Chr1:241519721 [GRCh38]
Chr1:241683021 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NC_000001.10:g.(?_241661128)_(241683022_?)del deletion not provided [RCV004579038] Chr1:241661128..241683022 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.10:g.(?_241661128)_(241661280_?)del deletion not provided [RCV003104070] Chr1:241661128..241661280 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.57C>T (p.Ala19=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358963]|Hereditary leiomyomatosis and renal cell cancer [RCV005245974]|not provided [RCV002555160] Chr1:241519666 [GRCh38]
Chr1:241682966 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.426G>A (p.Gln142=) single nucleotide variant not provided [RCV002551603] Chr1:241512096 [GRCh38]
Chr1:241675396 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV002511084] Chr1:241519720 [GRCh38]
Chr1:241683020 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.563A>T (p.Asn188Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004619680]|Hereditary leiomyomatosis and renal cell cancer [RCV005237764]|not provided [RCV002550960] Chr1:241508778 [GRCh38]
Chr1:241672078 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.177A>G (p.Glu59=) single nucleotide variant not provided [RCV002555192] Chr1:241517272 [GRCh38]
Chr1:241680572 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1476C>G (p.Leu492=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395908]|not provided [RCV002553389] Chr1:241497885 [GRCh38]
Chr1:241661185 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1422A>G (p.Thr474=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395969]|not provided [RCV002555122] Chr1:241497939 [GRCh38]
Chr1:241661239 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1305G>T (p.Val435=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384761]|Hereditary leiomyomatosis and renal cell cancer [RCV005247145]|not provided [RCV002561955] Chr1:241500522 [GRCh38]
Chr1:241663822 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.999C>T (p.Cys333=) single nucleotide variant not provided [RCV002561957] Chr1:241504151 [GRCh38]
Chr1:241667451 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.378+145G>A single nucleotide variant not provided [RCV001538901] Chr1:241513458 [GRCh38]
Chr1:241676758 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1248G>A (p.Val416=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395948]|not provided [RCV002555101] Chr1:241500579 [GRCh38]
Chr1:241663879 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-4A>C single nucleotide variant not provided [RCV002553386] Chr1:241500594 [GRCh38]
Chr1:241663894 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1185T>C (p.Thr395=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246264] Chr1:241502494 [GRCh38]
Chr1:241665794 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1305G>C (p.Val435=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246308] Chr1:241500522 [GRCh38]
Chr1:241663822 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1365G>A (p.Leu455=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246304] Chr1:241500462 [GRCh38]
Chr1:241663762 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.268-12G>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246316] Chr1:241513725 [GRCh38]
Chr1:241677025 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1109-17T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246322] Chr1:241502587 [GRCh38]
Chr1:241665887 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.622T>C (p.Leu208=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246431] Chr1:241508719 [GRCh38]
Chr1:241672019 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.249T>C (p.Gly83=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246501] Chr1:241517200 [GRCh38]
Chr1:241680500 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.924T>C (p.Ala308=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246539] Chr1:241504226 [GRCh38]
Chr1:241667526 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.324G>A (p.Gln108=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247654] Chr1:241513657 [GRCh38]
Chr1:241676957 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1391-17T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247661] Chr1:241497987 [GRCh38]
Chr1:241661287 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.634del (p.Gln212fs) deletion not provided [RCV001726797] Chr1:241508707 [GRCh38]
Chr1:241672007 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1123del (p.Thr375fs) deletion not provided [RCV001783277] Chr1:241502556 [GRCh38]
Chr1:241665856 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1111A>T (p.Lys371Ter) single nucleotide variant not provided [RCV001783288] Chr1:241502568 [GRCh38]
Chr1:241665868 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1237del (p.Ile413fs) deletion not provided [RCV001783286] Chr1:241500590 [GRCh38]
Chr1:241663890 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1133_1134dup (p.Ala379fs) duplication not provided [RCV001783278] Chr1:241502544..241502545 [GRCh38]
Chr1:241665844..241665845 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.422G>A (p.Trp141Ter) single nucleotide variant not provided [RCV001783283] Chr1:241512100 [GRCh38]
Chr1:241675400 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.738+2T>A single nucleotide variant not provided [RCV001783285] Chr1:241508601 [GRCh38]
Chr1:241671901 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1237-2A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361050] Chr1:241500592 [GRCh38]
Chr1:241663892 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.676G>A (p.Ala226Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255864]|not provided [RCV005095882] Chr1:241508665 [GRCh38]
Chr1:241671965 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-13_1237-12insCTCTCA insertion Hereditary cancer-predisposing syndrome [RCV002257114] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCTCTCA microsatellite Hereditary cancer-predisposing syndrome [RCV002257115] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.237T>C (p.Phe79=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259209]|not provided [RCV005058189] Chr1:241517212 [GRCh38]
Chr1:241680512 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1531T>A (p.Ter511Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259208] Chr1:241497830 [GRCh38]
Chr1:241661130 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1142C>T (p.Thr381Ile) single nucleotide variant not provided [RCV001781101] Chr1:241502537 [GRCh38]
Chr1:241665837 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.563A>G (p.Asn188Ser) single nucleotide variant not provided [RCV001781105] Chr1:241508778 [GRCh38]
Chr1:241672078 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1108+3A>G single nucleotide variant not provided [RCV001773145] Chr1:241504039 [GRCh38]
Chr1:241667339 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1529A>G (p.Lys510Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004616769]|not provided [RCV001763572] Chr1:241497832 [GRCh38]
Chr1:241661132 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1061G>C (p.Gly354Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946733]|not provided [RCV001771323]|not specified [RCV004596482] Chr1:241504089 [GRCh38]
Chr1:241667389 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.533A>G (p.Asn178Ser) single nucleotide variant not provided [RCV001771385] Chr1:241511989 [GRCh38]
Chr1:241675289 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.636G>C (p.Gln212His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004616768]|not provided [RCV001754712] Chr1:241508705 [GRCh38]
Chr1:241672005 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.659C>G (p.Ala220Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361040]|not provided [RCV001763793] Chr1:241508682 [GRCh38]
Chr1:241671982 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1224C>G (p.Phe408Leu) single nucleotide variant not provided [RCV001774028] Chr1:241502455 [GRCh38]
Chr1:241665755 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.187C>A (p.Pro63Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946742]|not provided [RCV001786176] Chr1:241517262 [GRCh38]
Chr1:241680562 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.664T>C (p.Ser222Pro) single nucleotide variant Fumarase deficiency [RCV001775239] Chr1:241508677 [GRCh38]
Chr1:241671977 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.775A>G (p.Met259Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414322]|not provided [RCV001769153] Chr1:241506132 [GRCh38]
Chr1:241669432 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.527A>T (p.His176Leu) single nucleotide variant not provided [RCV001760582] Chr1:241511995 [GRCh38]
Chr1:241675295 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.772G>A (p.Ala258Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405299]|Hereditary leiomyomatosis and renal cell cancer [RCV004785302]|not provided [RCV001756936] Chr1:241506135 [GRCh38]
Chr1:241669435 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.922G>A (p.Ala308Thr) single nucleotide variant not provided [RCV001781102] Chr1:241504228 [GRCh38]
Chr1:241667528 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.290G>A (p.Gly97Asp) single nucleotide variant not provided [RCV001781108] Chr1:241513691 [GRCh38]
Chr1:241676991 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1002T>G (p.Ser334Arg) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV003236374] Chr1:241504148 [GRCh38]
Chr1:241667448 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.553C>T (p.Gln185Ter) single nucleotide variant not provided [RCV001783280] Chr1:241511969 [GRCh38]
Chr1:241675269 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.298A>T (p.Lys100Ter) single nucleotide variant not provided [RCV001783284] Chr1:241513683 [GRCh38]
Chr1:241676983 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.901A>G (p.Thr301Ala) single nucleotide variant not provided [RCV001771465] Chr1:241506006 [GRCh38]
Chr1:241669306 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.781A>T (p.Arg261Ter) single nucleotide variant not provided [RCV001783279] Chr1:241506126 [GRCh38]
Chr1:241669426 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.905-2A>G single nucleotide variant not provided [RCV001783281] Chr1:241504247 [GRCh38]
Chr1:241667547 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.11:g.241497425T>C single nucleotide variant not provided [RCV001794658] Chr1:241497425 [GRCh38]
Chr1:241660725 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1098T>C (p.Ser366=) single nucleotide variant not provided [RCV003546720]|not specified [RCV001817429] Chr1:241504052 [GRCh38]
Chr1:241667352 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-50TC[15] microsatellite FH-related disorder [RCV004555626]|Hereditary cancer-predisposing syndrome [RCV002256843]|Hereditary leiomyomatosis and renal cell cancer [RCV005361742]|not specified [RCV001817226] Chr1:241500603..241500610 [GRCh38]
Chr1:241663903..241663910 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.470T>G (p.Ile157Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334696] Chr1:241512052 [GRCh38]
Chr1:241675352 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1170C>A (p.Asn390Lys) single nucleotide variant not provided [RCV001757972] Chr1:241502509 [GRCh38]
Chr1:241665809 [GRCh37]
Chr1:1q43		 conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1347G>A (p.Met449Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004040199]|not provided [RCV001757076] Chr1:241500480 [GRCh38]
Chr1:241663780 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.665C>T (p.Ser222Phe) single nucleotide variant not specified [RCV001817852] Chr1:241508676 [GRCh38]
Chr1:241671976 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-50TC[16] microsatellite Hereditary cancer-predisposing syndrome [RCV002256844]|Hereditary leiomyomatosis and renal cell cancer [RCV005361743]|not specified [RCV001817370] Chr1:241500603..241500608 [GRCh38]
Chr1:241663903..241663908 [GRCh37]
Chr1:1q43		 likely benign
NC_000001.11:g.241497360C>T single nucleotide variant not provided [RCV001810371] Chr1:241497360 [GRCh38]
Chr1:241660660 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1156C>G (p.Gln386Glu) single nucleotide variant not provided [RCV002545698] Chr1:241502523 [GRCh38]
Chr1:241665823 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.513C>G (p.Ser171Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334778]|not provided [RCV002551674] Chr1:241512009 [GRCh38]
Chr1:241675309 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.31T>C (p.Ser11Pro) single nucleotide variant Fumarase deficiency [RCV004571640]|not provided [RCV002560652] Chr1:241519692 [GRCh38]
Chr1:241682992 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1385A>G (p.His462Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388996]|not provided [RCV002592580] Chr1:241500442 [GRCh38]
Chr1:241663742 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.876G>T (p.Lys292Asn) single nucleotide variant not provided [RCV002545677] Chr1:241506031 [GRCh38]
Chr1:241669331 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.547A>G (p.Lys183Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303464]|not provided [RCV002562236] Chr1:241511975 [GRCh38]
Chr1:241675275 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.589A>T (p.Ile197Phe) single nucleotide variant not provided [RCV002569288] Chr1:241508752 [GRCh38]
Chr1:241672052 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.662A>T (p.Lys221Ile) single nucleotide variant not provided [RCV002556385] Chr1:241508679 [GRCh38]
Chr1:241671979 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.608T>G (p.Val203Gly) single nucleotide variant not provided [RCV002561544] Chr1:241508733 [GRCh38]
Chr1:241672033 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1136C>A (p.Ala379Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442998]|not provided [RCV002579647] Chr1:241502543 [GRCh38]
Chr1:241665843 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1310del (p.Gly437fs) deletion not provided [RCV002554310] Chr1:241500517 [GRCh38]
Chr1:241663817 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.754G>A (p.Val252Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946899]|not provided [RCV002560575] Chr1:241506153 [GRCh38]
Chr1:241669453 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1172A>G (p.His391Arg) single nucleotide variant not provided [RCV002558498] Chr1:241502507 [GRCh38]
Chr1:241665807 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.34C>A (p.Arg12Ser) single nucleotide variant not provided [RCV002579595] Chr1:241519689 [GRCh38]
Chr1:241682989 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.983T>G (p.Met328Arg) single nucleotide variant not provided [RCV002625338] Chr1:241504167 [GRCh38]
Chr1:241667467 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.909_910del (p.Leu303fs) deletion not provided [RCV002564388] Chr1:241504240..241504241 [GRCh38]
Chr1:241667540..241667541 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.577A>G (p.Thr193Ala) single nucleotide variant not provided [RCV002552791] Chr1:241508764 [GRCh38]
Chr1:241672064 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1323T>A (p.Asn441Lys) single nucleotide variant not provided [RCV002608051] Chr1:241500504 [GRCh38]
Chr1:241663804 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1016C>T (p.Ala339Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334803]|Ovarian cancer [RCV003154210]|not provided [RCV002552876] Chr1:241504134 [GRCh38]
Chr1:241667434 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.777G>A (p.Met259Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303267]|not provided [RCV002552767] Chr1:241506130 [GRCh38]
Chr1:241669430 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.539A>T (p.His180Leu) single nucleotide variant not provided [RCV002657647] Chr1:241511983 [GRCh38]
Chr1:241675283 [GRCh37]
Chr1:1q43		 likely pathogenic
GRCh37/hg19 1q43(chr1:240857677-243316822)x3 copy number gain not provided [RCV001829254] Chr1:240857677..243316822 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1016_1024del (p.Ala339_Ile342delinsVal) deletion Fumarase deficiency [RCV001872160] Chr1:241504126..241504134 [GRCh38]
Chr1:241667426..241667434 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.915T>G (p.Phe305Leu) single nucleotide variant not provided [RCV002548762] Chr1:241504235 [GRCh38]
Chr1:241667535 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.87_89del (p.Gly30del) deletion not provided [RCV002555273] Chr1:241519634..241519636 [GRCh38]
Chr1:241682934..241682936 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.113C>T (p.Pro38Leu) single nucleotide variant not provided [RCV002561380] Chr1:241519610 [GRCh38]
Chr1:241682910 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1186G>C (p.Val396Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005341112]|not provided [RCV002254970] Chr1:241502493 [GRCh38]
Chr1:241665793 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.115C>T (p.Pro39Ser) single nucleotide variant not provided [RCV002545744] Chr1:241519608 [GRCh38]
Chr1:241682908 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.982A>G (p.Met328Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004041092]|not provided [RCV002552223] Chr1:241504168 [GRCh38]
Chr1:241667468 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.711G>A (p.Gln237=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005343119]|not provided [RCV002554302] Chr1:241508630 [GRCh38]
Chr1:241671930 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.779C>G (p.Thr260Arg) single nucleotide variant not provided [RCV002560715] Chr1:241506128 [GRCh38]
Chr1:241669428 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:241180373-242090901) copy number gain not specified [RCV002052989] Chr1:241180373..242090901 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.95C>T (p.Ala32Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946833]|not provided [RCV002553578] Chr1:241519628 [GRCh38]
Chr1:241682928 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.967G>A (p.Glu323Lys) single nucleotide variant not provided [RCV002548912] Chr1:241504183 [GRCh38]
Chr1:241667483 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1263G>C (p.Arg421Ser) single nucleotide variant not provided [RCV002625343] Chr1:241500564 [GRCh38]
Chr1:241663864 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.991A>G (p.Thr331Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386661]|not provided [RCV002552922] Chr1:241504159 [GRCh38]
Chr1:241667459 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.221G>A (p.Arg74Lys) single nucleotide variant not provided [RCV002552848] Chr1:241517228 [GRCh38]
Chr1:241680528 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1426C>T (p.His476Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388779]|not provided [RCV002555210] Chr1:241497935 [GRCh38]
Chr1:241661235 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1068_1069delinsAC (p.Ile357Leu) indel not provided [RCV003772695] Chr1:241504081..241504082 [GRCh38]
Chr1:241667381..241667382 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.569C>T (p.Thr190Ile) single nucleotide variant not provided [RCV002557578] Chr1:241508772 [GRCh38]
Chr1:241672072 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.124G>T (p.Ala42Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946823]|not provided [RCV002552917] Chr1:241519599 [GRCh38]
Chr1:241682899 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1489T>C (p.Phe497Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388776]|not provided [RCV002553588] Chr1:241497872 [GRCh38]
Chr1:241661172 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1484A>G (p.Glu495Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004046922]|not provided [RCV002548906] Chr1:241497877 [GRCh38]
Chr1:241661177 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.872A>G (p.Glu291Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004039112]|not provided [RCV002553541] Chr1:241506035 [GRCh38]
Chr1:241669335 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1518G>A (p.Met506Ile) single nucleotide variant not provided [RCV002545740] Chr1:241497843 [GRCh38]
Chr1:241661143 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.128G>T (p.Arg43Leu) single nucleotide variant not provided [RCV002552865] Chr1:241519595 [GRCh38]
Chr1:241682895 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241677041)_(241680477_?)del deletion not provided [RCV003104160] Chr1:241677041..241680477 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.65T>C (p.Leu22Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004045407]|not provided [RCV002625340] Chr1:241519658 [GRCh38]
Chr1:241682958 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1338C>G (p.Asn446Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386852]|not provided [RCV002592537] Chr1:241500489 [GRCh38]
Chr1:241663789 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.603A>G (p.Ile201Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004043344]|not provided [RCV002557653] Chr1:241508738 [GRCh38]
Chr1:241672038 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1243A>C (p.Asn415His) single nucleotide variant not provided [RCV002549040] Chr1:241500584 [GRCh38]
Chr1:241663884 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.797T>C (p.Met266Thr) single nucleotide variant Fumarase deficiency [RCV003471264]|Hereditary cancer-predisposing syndrome [RCV002423251]|Hereditary leiomyomatosis and renal cell cancer [RCV004785453]|Ovarian cancer [RCV003154232]|not provided [RCV002545560] Chr1:241506110 [GRCh38]
Chr1:241669410 [GRCh37]
Chr1:1q43		 likely pathogenic|likely benign|uncertain significance
NM_000143.4(FH):c.470T>C (p.Ile157Thr) single nucleotide variant not provided [RCV002548741] Chr1:241512052 [GRCh38]
Chr1:241675352 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1478del (p.Thr493fs) deletion Hereditary leiomyomatosis and renal cell cancer [RCV003456252]|not provided [RCV002552962] Chr1:241497883 [GRCh38]
Chr1:241661183 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1427A>G (p.His476Arg) single nucleotide variant not provided [RCV002561356] Chr1:241497934 [GRCh38]
Chr1:241661234 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361352]|not provided [RCV002579657] Chr1:241500593 [GRCh38]
Chr1:241663893 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.775A>C (p.Met259Leu) single nucleotide variant not provided [RCV002571261] Chr1:241506132 [GRCh38]
Chr1:241669432 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.536A>G (p.Asp179Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346300]|not provided [RCV002550437] Chr1:241511986 [GRCh38]
Chr1:241675286 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.62C>T (p.Ala21Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361145]|not provided [RCV002552213]|not specified [RCV002268582] Chr1:241519661 [GRCh38]
Chr1:241682961 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1459A>G (p.Ile487Val) single nucleotide variant Fumarase deficiency [RCV003464254]|Hereditary cancer-predisposing syndrome [RCV002388877]|not provided [RCV002562024] Chr1:241497902 [GRCh38]
Chr1:241661202 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.933del (p.Lys311fs) deletion not provided [RCV002568513] Chr1:241504217 [GRCh38]
Chr1:241667517 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.490A>G (p.Met164Val) single nucleotide variant not provided [RCV002563598] Chr1:241512032 [GRCh38]
Chr1:241675332 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.29_30del (p.Arg10fs) microsatellite not provided [RCV002568515] Chr1:241519693..241519694 [GRCh38]
Chr1:241682993..241682994 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.215C>A (p.Thr72Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947032]|not provided [RCV002548115] Chr1:241517234 [GRCh38]
Chr1:241680534 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.776T>C (p.Met259Thr) single nucleotide variant Fumarase deficiency [RCV002486553]|Hereditary cancer-predisposing syndrome [RCV004045275]|not provided [RCV002608023] Chr1:241506131 [GRCh38]
Chr1:241669431 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241661128)_(241667555_?)del deletion not provided [RCV003107926] Chr1:241661128..241667555 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.690G>C (p.Lys230Asn) single nucleotide variant not provided [RCV002608072] Chr1:241508651 [GRCh38]
Chr1:241671951 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.370G>C (p.Ala124Pro) single nucleotide variant not provided [RCV002608024] Chr1:241513611 [GRCh38]
Chr1:241676911 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.116C>T (p.Pro39Leu) single nucleotide variant Fumarase deficiency [RCV004571768]|Hereditary cancer-predisposing syndrome [RCV002331543]|not provided [RCV002569223] Chr1:241519607 [GRCh38]
Chr1:241682907 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.530C>G (p.Pro177Arg) single nucleotide variant not provided [RCV002592548] Chr1:241511992 [GRCh38]
Chr1:241675292 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.143A>T (p.Asn48Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005343155]|not provided [RCV002560432] Chr1:241517306 [GRCh38]
Chr1:241680606 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.909G>C (p.Leu303Phe) single nucleotide variant Fumarase deficiency [RCV003464232]|Hereditary cancer-predisposing syndrome [RCV003339818]|not provided [RCV002556354] Chr1:241504241 [GRCh38]
Chr1:241667541 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.989C>T (p.Thr330Ile) single nucleotide variant not provided [RCV002562769] Chr1:241504161 [GRCh38]
Chr1:241667461 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.887_888del (p.Lys296fs) deletion not provided [RCV002553500] Chr1:241506019..241506020 [GRCh38]
Chr1:241669319..241669320 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.32C>T (p.Ser11Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004039748]|not provided [RCV002548719] Chr1:241519691 [GRCh38]
Chr1:241682991 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.822dup (p.Gly275fs) duplication Hereditary leiomyomatosis and renal cell cancer [RCV005421050]|not provided [RCV002552902] Chr1:241506084..241506085 [GRCh38]
Chr1:241669384..241669385 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1390+4A>T single nucleotide variant not provided [RCV002556320] Chr1:241500433 [GRCh38]
Chr1:241663733 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.35G>A (p.Arg12His) single nucleotide variant not provided [RCV002554321] Chr1:241519688 [GRCh38]
Chr1:241682988 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.634C>G (p.Gln212Glu) single nucleotide variant not provided [RCV002545636] Chr1:241508707 [GRCh38]
Chr1:241672007 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1439C>T (p.Ser480Leu) single nucleotide variant not provided [RCV002573501] Chr1:241497922 [GRCh38]
Chr1:241661222 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241661128)_(245027609_?)dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV004584128] Chr1:241661128..245027609 [GRCh37]
Chr1:1q43-44		 uncertain significance
NM_000143.4(FH):c.1297A>T (p.Asn433Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386683]|not provided [RCV002553671] Chr1:241500530 [GRCh38]
Chr1:241663830 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.853A>T (p.Thr285Ser) single nucleotide variant not provided [RCV002545321] Chr1:241506054 [GRCh38]
Chr1:241669354 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.738G>C (p.Gln246His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386691]|not provided [RCV002555261] Chr1:241508603 [GRCh38]
Chr1:241671903 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.101C>T (p.Pro34Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256895]|not provided [RCV002551222] Chr1:241519622 [GRCh38]
Chr1:241682922 [GRCh37]
Chr1:1q43		 conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.1399A>G (p.Lys467Glu) single nucleotide variant not provided [RCV002548869] Chr1:241497962 [GRCh38]
Chr1:241661262 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.574C>G (p.Pro192Ala) single nucleotide variant not provided [RCV002657712] Chr1:241508767 [GRCh38]
Chr1:241672067 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.800C>T (p.Pro267Leu) single nucleotide variant not provided [RCV002545800] Chr1:241506107 [GRCh38]
Chr1:241669407 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1030T>G (p.Phe344Val) single nucleotide variant not provided [RCV002571292] Chr1:241504120 [GRCh38]
Chr1:241667420 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.973A>T (p.Ser325Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386904]|not provided [RCV002548750] Chr1:241504177 [GRCh38]
Chr1:241667477 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.3G>C (p.Met1Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004616956]|not provided [RCV002642166] Chr1:241519720 [GRCh38]
Chr1:241683020 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.34C>G (p.Arg12Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454313]|not provided [RCV002548971] Chr1:241519689 [GRCh38]
Chr1:241682989 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1163T>G (p.Met388Arg) single nucleotide variant not provided [RCV002545873] Chr1:241502516 [GRCh38]
Chr1:241665816 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.738+5A>G single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247318]|not provided [RCV002571344] Chr1:241508598 [GRCh38]
Chr1:241671898 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1304T>C (p.Val435Ala) single nucleotide variant not provided [RCV002549071] Chr1:241500523 [GRCh38]
Chr1:241663823 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241669293)_(241683022_?)dup duplication not provided [RCV003104167] Chr1:241669293..241683022 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.534C>A (p.Asn178Lys) single nucleotide variant not provided [RCV003104161] Chr1:241511988 [GRCh38]
Chr1:241675288 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.698G>C (p.Arg233Pro) single nucleotide variant not provided [RCV002592600] Chr1:241508643 [GRCh38]
Chr1:241671943 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.658G>A (p.Ala220Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003348680]|not provided [RCV002563559] Chr1:241508683 [GRCh38]
Chr1:241671983 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1528A>C (p.Lys510Gln) single nucleotide variant not provided [RCV002552120] Chr1:241497833 [GRCh38]
Chr1:241661133 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.707C>T (p.Thr236Ile) single nucleotide variant Fumarase deficiency [RCV002507650]|Hereditary cancer-predisposing syndrome [RCV003303462]|not provided [RCV002563380] Chr1:241508634 [GRCh38]
Chr1:241671934 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1247del (p.Val416fs) deletion Hereditary cancer-predisposing syndrome [RCV002388932]|not provided [RCV002563642] Chr1:241500580 [GRCh38]
Chr1:241663880 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.152G>A (p.Arg51Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398014]|not provided [RCV002564404] Chr1:241517297 [GRCh38]
Chr1:241680597 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.373G>C (p.Asp125His) single nucleotide variant not provided [RCV002550502] Chr1:241513608 [GRCh38]
Chr1:241676908 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.961C>G (p.Leu321Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386621]|not provided [RCV002548090] Chr1:241504189 [GRCh38]
Chr1:241667489 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.268-3_268-2del deletion not provided [RCV002657644] Chr1:241513715..241513716 [GRCh38]
Chr1:241677015..241677016 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.905-3_905-2insATTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC microsatellite not provided [RCV002563390] Chr1:241504247..241504248 [GRCh38]
Chr1:241667547..241667548 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.358A>C (p.Ile120Leu) single nucleotide variant not provided [RCV002554189] Chr1:241513623 [GRCh38]
Chr1:241676923 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241291947)_(241663758_?)del deletion not provided [RCV003107927] Chr1:241291947..241663758 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.802A>G (p.Arg268Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946821]|not provided [RCV002553469] Chr1:241506105 [GRCh38]
Chr1:241669405 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1236+5G>A single nucleotide variant not provided [RCV002550324] Chr1:241502438 [GRCh38]
Chr1:241665738 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.484A>G (p.Ile162Val) single nucleotide variant not provided [RCV002554136] Chr1:241512038 [GRCh38]
Chr1:241675338 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1337A>G (p.Asn446Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004946806]|not provided [RCV002552208] Chr1:241500490 [GRCh38]
Chr1:241663790 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.16C>T (p.Arg6Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398023]|not provided [RCV002564442] Chr1:241519707 [GRCh38]
Chr1:241683007 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.934T>G (p.Phe312Val) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV004699136]|not provided [RCV002551211] Chr1:241504216 [GRCh38]
Chr1:241667516 [GRCh37]
Chr1:1q43		 likely pathogenic
NC_000001.10:g.(?_241680472)_(241683022_?)del deletion not provided [RCV003107918] Chr1:241680472..241683022 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.667A>T (p.Lys223Ter) single nucleotide variant not provided [RCV002553602] Chr1:241508674 [GRCh38]
Chr1:241671974 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.482C>T (p.Ala161Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303277]|not provided [RCV002552286] Chr1:241512040 [GRCh38]
Chr1:241675340 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.271C>G (p.Pro91Ala) single nucleotide variant not provided [RCV002608056] Chr1:241513710 [GRCh38]
Chr1:241677010 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.354T>G (p.Asn118Lys) single nucleotide variant Fumarase deficiency [RCV004571949]|Fumarase deficiency [RCV005017057]|Hereditary cancer-predisposing syndrome [RCV002458971]|not provided [RCV002642140] Chr1:241513627 [GRCh38]
Chr1:241676927 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.460A>C (p.Asn154His) single nucleotide variant not provided [RCV002561357] Chr1:241512062 [GRCh38]
Chr1:241675362 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.167C>A (p.Thr56Asn) single nucleotide variant not provided [RCV002560389] Chr1:241517282 [GRCh38]
Chr1:241680582 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1348A>C (p.Asn450His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004043389]|not provided [RCV002556353] Chr1:241500479 [GRCh38]
Chr1:241663779 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.896C>T (p.Ala299Val) single nucleotide variant not provided [RCV002625367] Chr1:241506011 [GRCh38]
Chr1:241669311 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1228C>T (p.Pro410Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361161]|not provided [RCV002552913] Chr1:241502451 [GRCh38]
Chr1:241665751 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.532_555+7del deletion not provided [RCV002569146] Chr1:241511960..241511990 [GRCh38]
Chr1:241675260..241675290 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1187T>G (p.Val396Gly) single nucleotide variant not provided [RCV002571189] Chr1:241502492 [GRCh38]
Chr1:241665792 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1241A>G (p.Lys414Arg) single nucleotide variant not provided [RCV002552307] Chr1:241500586 [GRCh38]
Chr1:241663886 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.148T>C (p.Phe50Leu) single nucleotide variant Fumarase deficiency [RCV004571646]|Hereditary cancer-predisposing syndrome [RCV004042049]|not provided [RCV002560740] Chr1:241517301 [GRCh38]
Chr1:241680601 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.393A>T (p.Lys131Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003348706]|not provided [RCV002573480] Chr1:241512129 [GRCh38]
Chr1:241675429 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.68C>T (p.Ala23Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003167101]|not provided [RCV002555419] Chr1:241519655 [GRCh38]
Chr1:241682955 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.268-21_268-8del deletion not provided [RCV002625392] Chr1:241513721..241513734 [GRCh38]
Chr1:241677021..241677034 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.37_92del (p.Pro13fs) deletion not provided [RCV002562042] Chr1:241519631..241519686 [GRCh38]
Chr1:241682931..241682986 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1145T>C (p.Met382Thr) single nucleotide variant not provided [RCV002571255] Chr1:241502534 [GRCh38]
Chr1:241665834 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.889G>A (p.Val297Met) single nucleotide variant FH-related disorder [RCV004728984]|Hereditary cancer-predisposing syndrome [RCV002370598]|not provided [RCV002563557] Chr1:241506018 [GRCh38]
Chr1:241669318 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1357C>G (p.Leu453Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003299067]|not provided [RCV002548077] Chr1:241500470 [GRCh38]
Chr1:241663770 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.515A>G (p.Lys172Arg) single nucleotide variant not provided [RCV002571222] Chr1:241512007 [GRCh38]
Chr1:241675307 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.264G>C (p.Met88Ile) single nucleotide variant not provided [RCV002642086] Chr1:241517185 [GRCh38]
Chr1:241680485 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241665733)_(241667555_?)del deletion not provided [RCV003107925] Chr1:241665733..241667555 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.674_675del (p.Phe225fs) deletion not provided [RCV002552116] Chr1:241508666..241508667 [GRCh38]
Chr1:241671966..241671967 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.288del (p.Phe96fs) deletion not provided [RCV002555271] Chr1:241513693 [GRCh38]
Chr1:241676993 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1158A>C (p.Gln386His) single nucleotide variant not provided [RCV002571242] Chr1:241502521 [GRCh38]
Chr1:241665821 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1237-3A>T single nucleotide variant not provided [RCV002556297] Chr1:241500593 [GRCh38]
Chr1:241663893 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.904+1G>T single nucleotide variant not provided [RCV002571258] Chr1:241506002 [GRCh38]
Chr1:241669302 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.462T>G (p.Asn154Lys) single nucleotide variant not provided [RCV002608016] Chr1:241512060 [GRCh38]
Chr1:241675360 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.378+4G>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247296]|not provided [RCV002552160] Chr1:241513599 [GRCh38]
Chr1:241676899 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.748G>C (p.Gly250Arg) single nucleotide variant not provided [RCV002552967] Chr1:241506159 [GRCh38]
Chr1:241669459 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1522G>T (p.Gly508Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005343253]|not provided [RCV002642155] Chr1:241497839 [GRCh38]
Chr1:241661139 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.723_724del (p.Leu242fs) deletion not provided [RCV002564331] Chr1:241508617..241508618 [GRCh38]
Chr1:241671917..241671918 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.675T>A (p.Phe225Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004616963]|not provided [RCV002548789] Chr1:241508666 [GRCh38]
Chr1:241671966 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1147G>C (p.Val383Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004040506]|not provided [RCV002551634] Chr1:241502532 [GRCh38]
Chr1:241665832 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.668A>G (p.Lys223Arg) single nucleotide variant not provided [RCV002571340] Chr1:241508673 [GRCh38]
Chr1:241671973 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1391-11T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247349]|not provided [RCV002551303] Chr1:241497981 [GRCh38]
Chr1:241661281 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.268-15del deletion Hereditary leiomyomatosis and renal cell cancer [RCV005247464]|not provided [RCV002993480] Chr1:241513728 [GRCh38]
Chr1:241677028 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1391-15T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV004785486]|not provided [RCV003007029] Chr1:241497985 [GRCh38]
Chr1:241661285 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.555+11G>A single nucleotide variant not provided [RCV003053443] Chr1:241511956 [GRCh38]
Chr1:241675256 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.132+13C>A single nucleotide variant not provided [RCV003089035] Chr1:241519578 [GRCh38]
Chr1:241682878 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.905-5T>C single nucleotide variant not provided [RCV003089013] Chr1:241504250 [GRCh38]
Chr1:241667550 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.738+17A>G single nucleotide variant not provided [RCV002560755] Chr1:241508586 [GRCh38]
Chr1:241671886 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.904+8A>G single nucleotide variant not provided [RCV003081109] Chr1:241505995 [GRCh38]
Chr1:241669295 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.114T>C (p.Pro38=) single nucleotide variant not provided [RCV003033312] Chr1:241519609 [GRCh38]
Chr1:241682909 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.609T>G (p.Val203=) single nucleotide variant not provided [RCV003033308] Chr1:241508732 [GRCh38]
Chr1:241672032 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.133-10T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247501]|not provided [RCV003025425] Chr1:241517326 [GRCh38]
Chr1:241680626 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.904+9T>G single nucleotide variant not provided [RCV003107947] Chr1:241505994 [GRCh38]
Chr1:241669294 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1494C>T (p.Asp498=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391248]|Hereditary leiomyomatosis and renal cell cancer [RCV005247492]|not provided [RCV003025405] Chr1:241497867 [GRCh38]
Chr1:241661167 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.739-12T>G single nucleotide variant not provided [RCV002993436] Chr1:241506180 [GRCh38]
Chr1:241669480 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1391-9T>G single nucleotide variant not provided [RCV003025390] Chr1:241497979 [GRCh38]
Chr1:241661279 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.738+19T>C single nucleotide variant not provided [RCV003081076]|not specified [RCV002465930] Chr1:241508584 [GRCh38]
Chr1:241671884 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.150C>T (p.Phe50=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391268]|Hereditary leiomyomatosis and renal cell cancer [RCV005247513]|not provided [RCV003025454] Chr1:241517299 [GRCh38]
Chr1:241680599 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.252G>A (p.Val84=) single nucleotide variant not provided [RCV002553004] Chr1:241517197 [GRCh38]
Chr1:241680497 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1461C>A (p.Ile487=) single nucleotide variant not provided [RCV002560776] Chr1:241497900 [GRCh38]
Chr1:241661200 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.378+17G>A single nucleotide variant not provided [RCV003025417] Chr1:241513586 [GRCh38]
Chr1:241676886 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.414C>G (p.Leu138=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948636]|not provided [RCV003070640] Chr1:241512108 [GRCh38]
Chr1:241675408 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.255A>G (p.Thr85=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005343381]|not provided [RCV003070666] Chr1:241517194 [GRCh38]
Chr1:241680494 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.633A>G (p.Leu211=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361496]|Hereditary leiomyomatosis and renal cell cancer [RCV005247463]|not provided [RCV003015234] Chr1:241508708 [GRCh38]
Chr1:241672008 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.132+20C>T single nucleotide variant not provided [RCV003104182]|not specified [RCV004596521] Chr1:241519571 [GRCh38]
Chr1:241682871 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-10T>C single nucleotide variant not provided [RCV002562314] Chr1:241500600 [GRCh38]
Chr1:241663900 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1283T>C (p.Val428Ala) single nucleotide variant Fumarase deficiency [RCV005397334]|Hereditary cancer-predisposing syndrome [RCV002382459]|Hereditary leiomyomatosis and renal cell cancer [RCV004785522]|not provided [RCV003089018]|not specified [RCV005232905] Chr1:241500544 [GRCh38]
Chr1:241663844 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.378+7G>A single nucleotide variant not provided [RCV003070617] Chr1:241513596 [GRCh38]
Chr1:241676896 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.744T>C (p.Phe248=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947086]|Hereditary leiomyomatosis and renal cell cancer [RCV005247369]|not provided [RCV002553015] Chr1:241506163 [GRCh38]
Chr1:241669463 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1109-15G>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247457]|not provided [RCV003015229] Chr1:241502585 [GRCh38]
Chr1:241665885 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.379-4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363634]|not provided [RCV003033339] Chr1:241512147 [GRCh38]
Chr1:241675447 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.567T>C (p.Asp189=) single nucleotide variant not provided [RCV003089082] Chr1:241508774 [GRCh38]
Chr1:241672074 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.904+12C>T single nucleotide variant not provided [RCV003015232] Chr1:241505991 [GRCh38]
Chr1:241669291 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.852T>C (p.Asn284=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443152]|Hereditary leiomyomatosis and renal cell cancer [RCV005247445]|not provided [RCV002993464] Chr1:241506055 [GRCh38]
Chr1:241669355 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.522T>C (p.Pro174=) single nucleotide variant not provided [RCV002562311] Chr1:241512000 [GRCh38]
Chr1:241675300 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-16_1237-9dup duplication not provided [RCV002561623] Chr1:241500598..241500599 [GRCh38]
Chr1:241663898..241663899 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.268-18T>A single nucleotide variant not provided [RCV003015280] Chr1:241513731 [GRCh38]
Chr1:241677031 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1108+10T>A single nucleotide variant not provided [RCV003089017] Chr1:241504032 [GRCh38]
Chr1:241667332 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.379-16A>T single nucleotide variant not provided [RCV002551285] Chr1:241512159 [GRCh38]
Chr1:241675459 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.379-17dup duplication Hereditary leiomyomatosis and renal cell cancer [RCV005247506]|not provided [RCV003025437] Chr1:241512159..241512160 [GRCh38]
Chr1:241675459..241675460 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1455T>C (p.Thr485=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391284]|not provided [RCV003033338] Chr1:241497906 [GRCh38]
Chr1:241661206 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.905-6C>T single nucleotide variant not provided [RCV003088999] Chr1:241504251 [GRCh38]
Chr1:241667551 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1236+16G>C single nucleotide variant not provided [RCV003088972] Chr1:241502427 [GRCh38]
Chr1:241665727 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1194C>A (p.Gly398=) single nucleotide variant not provided [RCV003070648] Chr1:241502485 [GRCh38]
Chr1:241665785 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.555+9G>T single nucleotide variant not provided [RCV003061712] Chr1:241511958 [GRCh38]
Chr1:241675258 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.555+20T>C single nucleotide variant not provided [RCV003061769] Chr1:241511947 [GRCh38]
Chr1:241675247 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.243T>A (p.Ile81=) single nucleotide variant not provided [RCV002550520] Chr1:241517206 [GRCh38]
Chr1:241680506 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.990T>G (p.Thr330=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161401]|not provided [RCV002561611] Chr1:241504160 [GRCh38]
Chr1:241667460 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.132+19C>T single nucleotide variant not provided [RCV003015319] Chr1:241519572 [GRCh38]
Chr1:241682872 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.318A>G (p.Val106=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339922]|not provided [RCV003007072] Chr1:241513663 [GRCh38]
Chr1:241676963 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.378+15G>A single nucleotide variant not provided [RCV003015242] Chr1:241513588 [GRCh38]
Chr1:241676888 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.807C>A (p.Ile269=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004617007]|Hereditary leiomyomatosis and renal cell cancer [RCV005248506]|not provided [RCV003081031] Chr1:241506100 [GRCh38]
Chr1:241669400 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1392G>A (p.Gly464=) single nucleotide variant not provided [RCV003053413] Chr1:241497969 [GRCh38]
Chr1:241661269 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.183G>A (p.Lys61=) single nucleotide variant FH-related disorder [RCV004555632]|Hereditary cancer-predisposing syndrome [RCV002407400]|Hereditary leiomyomatosis and renal cell cancer [RCV005247448]|not provided [RCV003007040] Chr1:241517266 [GRCh38]
Chr1:241680566 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.732T>C (p.Leu244=) single nucleotide variant not provided [RCV003089086] Chr1:241508609 [GRCh38]
Chr1:241671909 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.309C>A (p.Ala103=) single nucleotide variant not provided [RCV003025464] Chr1:241513672 [GRCh38]
Chr1:241676972 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.462T>C (p.Asn154=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337356]|not provided [RCV003070634] Chr1:241512060 [GRCh38]
Chr1:241675360 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.39C>G (p.Pro13=) single nucleotide variant not provided [RCV003007112] Chr1:241519684 [GRCh38]
Chr1:241682984 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.738+9G>A single nucleotide variant not provided [RCV003089076] Chr1:241508594 [GRCh38]
Chr1:241671894 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1109-15G>T single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247511]|not provided [RCV003025453] Chr1:241502585 [GRCh38]
Chr1:241665885 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.904+12C>A single nucleotide variant not provided [RCV003053452] Chr1:241505991 [GRCh38]
Chr1:241669291 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.556-12A>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV004793729]|not provided [RCV003015303] Chr1:241508797 [GRCh38]
Chr1:241672097 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1287C>T (p.Ser429=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005333163]|not provided [RCV002562326] Chr1:241500540 [GRCh38]
Chr1:241663840 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.198G>A (p.Lys66=) single nucleotide variant not provided [RCV003081050] Chr1:241517251 [GRCh38]
Chr1:241680551 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1200T>C (p.Asn400=) single nucleotide variant Fumarase deficiency [RCV005397320]|Hereditary cancer-predisposing syndrome [RCV004616997]|Hereditary leiomyomatosis and renal cell cancer [RCV005247509]|not provided [RCV003033294] Chr1:241502479 [GRCh38]
Chr1:241665779 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.774A>G (p.Ala258=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398241]|not provided [RCV003033296] Chr1:241506133 [GRCh38]
Chr1:241669433 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.249T>A (p.Gly83=) single nucleotide variant not provided [RCV002551296] Chr1:241517200 [GRCh38]
Chr1:241680500 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1109-19A>G single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247485]|not provided [RCV003025385] Chr1:241502589 [GRCh38]
Chr1:241665889 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.904+11A>C single nucleotide variant not provided [RCV002551328] Chr1:241505992 [GRCh38]
Chr1:241669292 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.378+12del deletion not provided [RCV002555435] Chr1:241513591 [GRCh38]
Chr1:241676891 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.378+10G>A single nucleotide variant not provided [RCV003025470] Chr1:241513593 [GRCh38]
Chr1:241676893 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.36T>A (p.Arg12=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004947130]|not provided [RCV003025474] Chr1:241519687 [GRCh38]
Chr1:241682987 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1236+14C>A single nucleotide variant not provided [RCV002560790] Chr1:241502429 [GRCh38]
Chr1:241665729 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.904+9T>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247560]|not provided [RCV003070576] Chr1:241505994 [GRCh38]
Chr1:241669294 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.378+12T>C single nucleotide variant not provided [RCV003107963] Chr1:241513591 [GRCh38]
Chr1:241676891 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1071C>A (p.Ile357=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416475]|Hereditary leiomyomatosis and renal cell cancer [RCV005247571]|not provided [RCV003107962] Chr1:241504079 [GRCh38]
Chr1:241667379 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.96C>G (p.Ala32=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247483]|not provided [RCV003025383] Chr1:241519627 [GRCh38]
Chr1:241682927 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1108+18A>G single nucleotide variant not provided [RCV002561593] Chr1:241504024 [GRCh38]
Chr1:241667324 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1109-20C>T single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005248508]|not provided [RCV003081040] Chr1:241502590 [GRCh38]
Chr1:241665890 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.618A>C (p.Val206=) single nucleotide variant not provided [RCV003061805] Chr1:241508723 [GRCh38]
Chr1:241672023 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.555+17T>C single nucleotide variant not provided [RCV002551306]|not specified [RCV002268599] Chr1:241511950 [GRCh38]
Chr1:241675250 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1391-19C>A single nucleotide variant not provided [RCV003033342] Chr1:241497989 [GRCh38]
Chr1:241661289 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1071C>T (p.Ile357=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423314]|Hereditary leiomyomatosis and renal cell cancer [RCV005247392]|not provided [RCV002562246] Chr1:241504079 [GRCh38]
Chr1:241667379 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.924T>G (p.Ala308=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003289419]|not provided [RCV002551310] Chr1:241504226 [GRCh38]
Chr1:241667526 [GRCh37]
Chr1:1q43		 likely benign
NC_000001.10:g.(?_241661128)_(244218672_?)del deletion not provided [RCV003114057] Chr1:241661128..244218672 [GRCh37]
Chr1:1q43-44		 uncertain significance
NC_000001.10:g.(?_241663727)_(241663900_?)del deletion not provided [RCV003119411] Chr1:241663727..241663900 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.10:g.(?_241661128)_(241677023_?)dup duplication not provided [RCV003119412] Chr1:241661128..241677023 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241661128)_(241667555_?)dup duplication not provided [RCV003119413] Chr1:241661128..241667555 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.928A>G (p.Asn310Asp) single nucleotide variant not provided [RCV004778379] Chr1:241504222 [GRCh38]
Chr1:241667522 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.904+2T>C single nucleotide variant Fumarase deficiency [RCV004776484] Chr1:241506001 [GRCh38]
Chr1:241669301 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1237-50TC[27] microsatellite FH-related disorder [RCV004555636]|Fumarase deficiency [RCV002502065]|Hereditary cancer-predisposing syndrome [RCV002257116]|Hereditary leiomyomatosis and renal cell cancer [RCV005356072]|not specified [RCV002268634] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.936T>G (p.Phe312Leu) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV002254382]|not provided [RCV003094170] Chr1:241504214 [GRCh38]
Chr1:241667514 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1237-50TC[28] microsatellite FH-related disorder [RCV004555637]|Hereditary cancer-predisposing syndrome [RCV002255863]|not specified [RCV002268635] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCA microsatellite Hereditary cancer-predisposing syndrome [RCV002255862] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-50TC[29] microsatellite Hereditary cancer-predisposing syndrome [RCV002258495]|Hereditary leiomyomatosis and renal cell cancer [RCV005356073]|not specified [RCV003493929] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1109-12del deletion Hereditary cancer-predisposing syndrome [RCV002259207]|Hereditary leiomyomatosis and renal cell cancer [RCV005248571] Chr1:241502582 [GRCh38]
Chr1:241665882 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1382C>T (p.Pro461Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004949055]|not provided [RCV003235826] Chr1:241500445 [GRCh38]
Chr1:241663745 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.555+5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278318] Chr1:241511962 [GRCh38]
Chr1:241675262 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.205G>A (p.Gly69Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278320]|not provided [RCV005054454] Chr1:241517244 [GRCh38]
Chr1:241680544 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.299A>G (p.Lys100Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435578] Chr1:241513682 [GRCh38]
Chr1:241676982 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.-2C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435623] Chr1:241519724 [GRCh38]
Chr1:241683024 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.*36A>G single nucleotide variant not specified [RCV002269154] Chr1:241497792 [GRCh38]
Chr1:241661092 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1391-40C>G single nucleotide variant not specified [RCV002269155] Chr1:241498010 [GRCh38]
Chr1:241661310 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.379-49G>A single nucleotide variant not specified [RCV002269159] Chr1:241512192 [GRCh38]
Chr1:241675492 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.106T>G (p.Phe36Val) single nucleotide variant not specified [RCV002269161] Chr1:241519617 [GRCh38]
Chr1:241682917 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.284C>A (p.Ala95Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435338] Chr1:241513697 [GRCh38]
Chr1:241676997 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.740A>G (p.Glu247Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384912] Chr1:241506167 [GRCh38]
Chr1:241669467 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.337G>T (p.Asp113Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451821]|not provided [RCV005096253] Chr1:241513644 [GRCh38]
Chr1:241676944 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.409C>T (p.Pro137Ser) single nucleotide variant not provided [RCV002286236] Chr1:241512113 [GRCh38]
Chr1:241675413 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.95C>G (p.Ala32Gly) single nucleotide variant not provided [RCV002274525] Chr1:241519628 [GRCh38]
Chr1:241682928 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.905-39A>G single nucleotide variant not specified [RCV002269156] Chr1:241504284 [GRCh38]
Chr1:241667584 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.132+35A>G single nucleotide variant not specified [RCV002269160] Chr1:241519556 [GRCh38]
Chr1:241682856 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-11C>G single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV002266555] Chr1:241500601 [GRCh38]
Chr1:241663901 [GRCh37]
Chr1:1q43		 likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_000143.4(FH):c.1056_1091dup (p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluProGly) duplication Hereditary leiomyomatosis and renal cell cancer [RCV002288296] Chr1:241504058..241504059 [GRCh38]
Chr1:241667358..241667359 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.556-28T>C single nucleotide variant not specified [RCV002269158] Chr1:241508813 [GRCh38]
Chr1:241672113 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.994G>C (p.Ala332Pro) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV002289038] Chr1:241504156 [GRCh38]
Chr1:241667456 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.624del (p.Leu208fs) deletion Hereditary cancer-predisposing syndrome [RCV002271334] Chr1:241508717 [GRCh38]
Chr1:241672017 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1250_1251insTAATGTGT (p.Leu417fs) microsatellite Hereditary leiomyomatosis and renal cell cancer [RCV002292257] Chr1:241500576..241500577 [GRCh38]
Chr1:241663876..241663877 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1149T>C (p.Val383=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452369]|Hereditary leiomyomatosis and renal cell cancer [RCV005248601]|not provided [RCV005096337] Chr1:241502530 [GRCh38]
Chr1:241665830 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.29G>T (p.Arg10Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435608]|not provided [RCV005058853] Chr1:241519694 [GRCh38]
Chr1:241682994 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.132+4A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385665] Chr1:241519587 [GRCh38]
Chr1:241682887 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.710A>G (p.Gln237Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367390]|not provided [RCV003738218] Chr1:241508631 [GRCh38]
Chr1:241671931 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1192G>A (p.Gly398Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351475]|not provided [RCV005096733] Chr1:241502487 [GRCh38]
Chr1:241665787 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.551del (p.Ser184fs) deletion Hereditary cancer-predisposing syndrome [RCV002351765]|not provided [RCV005096801] Chr1:241511971 [GRCh38]
Chr1:241675271 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.712G>C (p.Asp238His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367462]|Hereditary leiomyomatosis and renal cell cancer [RCV003138224]|not provided [RCV003098478] Chr1:241508629 [GRCh38]
Chr1:241671929 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000143.4(FH):c.1326A>T (p.Thr442=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385791]|Hereditary leiomyomatosis and renal cell cancer [RCV005248694] Chr1:241500501 [GRCh38]
Chr1:241663801 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1325C>T (p.Thr442Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385776]|not provided [RCV003688992] Chr1:241500502 [GRCh38]
Chr1:241663802 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1326A>C (p.Thr442=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385788]|not provided [RCV003698943] Chr1:241500501 [GRCh38]
Chr1:241663801 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.555+4A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351931] Chr1:241511963 [GRCh38]
Chr1:241675263 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1153_1155dup (p.Ala385_Gln386insAla) duplication Hereditary cancer-predisposing syndrome [RCV002349278]|not specified [RCV003331346] Chr1:241502523..241502524 [GRCh38]
Chr1:241665823..241665824 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.705T>C (p.His235=) single nucleotide variant not provided [RCV003096089]|not specified [RCV002269157] Chr1:241508636 [GRCh38]
Chr1:241671936 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.667A>G (p.Lys223Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366997]|not provided [RCV003098328] Chr1:241508674 [GRCh38]
Chr1:241671974 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1329A>G (p.Glu443=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385859] Chr1:241500498 [GRCh38]
Chr1:241663798 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.555+1_555+9del deletion Hereditary cancer-predisposing syndrome [RCV002351929] Chr1:241511958..241511966 [GRCh38]
Chr1:241675258..241675266 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.555+3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351930] Chr1:241511964 [GRCh38]
Chr1:241675264 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1230A>G (p.Pro410=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369332] Chr1:241502449 [GRCh38]
Chr1:241665749 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1283_1294del (p.Val428_Thr431del) deletion Hereditary cancer-predisposing syndrome [RCV002387257] Chr1:241500533..241500544 [GRCh38]
Chr1:241663833..241663844 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.359T>C (p.Ile120Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455172] Chr1:241513622 [GRCh38]
Chr1:241676922 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.357A>T (p.Ala119=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455061] Chr1:241513624 [GRCh38]
Chr1:241676924 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.504A>G (p.Glu168=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351421] Chr1:241512018 [GRCh38]
Chr1:241675318 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.546T>C (p.Asn182=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349790]|not provided [RCV003096756] Chr1:241511976 [GRCh38]
Chr1:241675276 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.270C>A (p.Thr90=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437436] Chr1:241513711 [GRCh38]
Chr1:241677011 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1110C>T (p.Gly370=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437441]|Hereditary leiomyomatosis and renal cell cancer [RCV005248796] Chr1:241502569 [GRCh38]
Chr1:241665869 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.816C>G (p.Leu272=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421465] Chr1:241506091 [GRCh38]
Chr1:241669391 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.675T>C (p.Phe225=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369276]|Hereditary leiomyomatosis and renal cell cancer [RCV005248650] Chr1:241508666 [GRCh38]
Chr1:241671966 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.367G>A (p.Ala123Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452713] Chr1:241513614 [GRCh38]
Chr1:241676914 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.627A>G (p.Pro209=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368676] Chr1:241508714 [GRCh38]
Chr1:241672014 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.984G>A (p.Met328Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387299] Chr1:241504166 [GRCh38]
Chr1:241667466 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1203A>G (p.Gly401=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351738]|Hereditary leiomyomatosis and renal cell cancer [RCV005248632] Chr1:241502476 [GRCh38]
Chr1:241665776 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.499G>T (p.Gly167Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337432]|not provided [RCV002286948] Chr1:241512023 [GRCh38]
Chr1:241675323 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.493T>C (p.Leu165=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351309] Chr1:241512029 [GRCh38]
Chr1:241675329 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.708T>C (p.Thr236=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367282]|Hereditary leiomyomatosis and renal cell cancer [RCV005248655] Chr1:241508633 [GRCh38]
Chr1:241671933 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.812A>G (p.Glu271Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421317] Chr1:241506095 [GRCh38]
Chr1:241669395 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1391-19C>G single nucleotide variant not specified [RCV002466070] Chr1:241497989 [GRCh38]
Chr1:241661289 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1 copy number loss not provided [RCV002474585] Chr1:232732121..243338216 [GRCh37]
Chr1:1q42.2-43		 pathogenic
NM_000143.4(FH):c.904+21T>A single nucleotide variant not specified [RCV002466076] Chr1:241505982 [GRCh38]
Chr1:241669282 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1064A>T (p.Glu355Val) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV002466957] Chr1:241504086 [GRCh38]
Chr1:241667386 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.796A>T (p.Met266Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416918]|not provided [RCV003738226] Chr1:241506111 [GRCh38]
Chr1:241669411 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.-1C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417120]|not provided [RCV004593013] Chr1:241519723 [GRCh38]
Chr1:241683023 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.-1C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417123] Chr1:241519723 [GRCh38]
Chr1:241683023 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1 copy number loss not provided [RCV002474504] Chr1:239910960..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_000143.4(FH):c.1391-18T>G single nucleotide variant not specified [RCV002466068] Chr1:241497988 [GRCh38]
Chr1:241661288 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.267+10A>G single nucleotide variant not provided [RCV003698964]|not specified [RCV002466088] Chr1:241517172 [GRCh38]
Chr1:241680472 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.186G>A (p.Val62=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164723]|not provided [RCV002569350]|not specified [RCV002466093] Chr1:241517263 [GRCh38]
Chr1:241680563 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1085A>G (p.Glu362Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417971] Chr1:241504065 [GRCh38]
Chr1:241667365 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCA insertion Fumarase deficiency [RCV002502084] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.562A>G (p.Asn188Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002345058]|not specified [RCV005239382] Chr1:241508779 [GRCh38]
Chr1:241672079 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.424C>A (p.Gln142Lys) single nucleotide variant not provided [RCV004588711] Chr1:241512098 [GRCh38]
Chr1:241675398 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.679C>G (p.Gln227Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369454] Chr1:241508662 [GRCh38]
Chr1:241671962 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1345A>T (p.Met449Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387801] Chr1:241500482 [GRCh38]
Chr1:241663782 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.153G>C (p.Arg51=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403145] Chr1:241517296 [GRCh38]
Chr1:241680596 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.654T>C (p.Leu218=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364371]|not provided [RCV005096955] Chr1:241508687 [GRCh38]
Chr1:241671987 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.861T>C (p.Ile287=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371153] Chr1:241506046 [GRCh38]
Chr1:241669346 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.225T>C (p.Ser75=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443722] Chr1:241517224 [GRCh38]
Chr1:241680524 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1236+2T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364897] Chr1:241502441 [GRCh38]
Chr1:241665741 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.954_956dup (p.Asp319_Ala320insAsp) duplication Hereditary leiomyomatosis and renal cell cancer [RCV003230783] Chr1:241504193..241504194 [GRCh38]
Chr1:241667493..241667494 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.177A>C (p.Glu59Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404041]|not provided [RCV005097755] Chr1:241517272 [GRCh38]
Chr1:241680572 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.936T>C (p.Phe312=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371734]|not provided [RCV003708668] Chr1:241504214 [GRCh38]
Chr1:241667514 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1500G>C (p.Trp500Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389932] Chr1:241497861 [GRCh38]
Chr1:241661161 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1435G>A (p.Gly479Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394261] Chr1:241497926 [GRCh38]
Chr1:241661226 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.996C>T (p.Ala332=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382979] Chr1:241504154 [GRCh38]
Chr1:241667454 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1252C>T (p.His418Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416590]|not provided [RCV003698936] Chr1:241500575 [GRCh38]
Chr1:241663875 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.58G>C (p.Ala20Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355701]|not provided [RCV003098046] Chr1:241519665 [GRCh38]
Chr1:241682965 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.749G>A (p.Gly250Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391599] Chr1:241506158 [GRCh38]
Chr1:241669458 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.871G>A (p.Glu291Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373474] Chr1:241506036 [GRCh38]
Chr1:241669336 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.-1C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417136] Chr1:241519723 [GRCh38]
Chr1:241683023 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1267C>G (p.Leu423Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373464] Chr1:241500560 [GRCh38]
Chr1:241663860 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.429T>C (p.Thr143=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330289]|Hereditary leiomyomatosis and renal cell cancer [RCV005248617]|not provided [RCV005096538] Chr1:241512093 [GRCh38]
Chr1:241675393 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.921T>G (p.Thr307=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371298] Chr1:241504229 [GRCh38]
Chr1:241667529 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.220A>T (p.Arg74Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425833] Chr1:241517229 [GRCh38]
Chr1:241680529 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.942T>C (p.Ala314=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374001]|not provided [RCV003108067] Chr1:241504208 [GRCh38]
Chr1:241667508 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.866T>C (p.Phe289Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449670]|not provided [RCV003560989] Chr1:241506041 [GRCh38]
Chr1:241669341 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.750T>C (p.Gly250=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393773]|Hereditary leiomyomatosis and renal cell cancer [RCV005248660]|not provided [RCV003546801] Chr1:241506157 [GRCh38]
Chr1:241669457 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1440A>T (p.Ser480=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394349] Chr1:241497921 [GRCh38]
Chr1:241661221 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.217G>C (p.Val73Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432883] Chr1:241517232 [GRCh38]
Chr1:241680532 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1403C>T (p.Ala468Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389336]|not provided [RCV003738241] Chr1:241497958 [GRCh38]
Chr1:241661258 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1404A>C (p.Ala468=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389344] Chr1:241497957 [GRCh38]
Chr1:241661257 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.646G>T (p.Asp216Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356180] Chr1:241508695 [GRCh38]
Chr1:241671995 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.204T>G (p.Tyr68Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421802]|not provided [RCV005097908] Chr1:241517245 [GRCh38]
Chr1:241680545 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.827G>T (p.Gly276Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430238]|not provided [RCV005097210] Chr1:241506080 [GRCh38]
Chr1:241669380 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.681G>T (p.Gln227His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369596] Chr1:241508660 [GRCh38]
Chr1:241671960 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1058T>C (p.Leu353Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401452]|not provided [RCV003774486] Chr1:241504092 [GRCh38]
Chr1:241667392 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.450T>C (p.Asn150=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339908] Chr1:241512072 [GRCh38]
Chr1:241675372 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.921T>C (p.Thr307=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371296]|Hereditary leiomyomatosis and renal cell cancer [RCV005248676] Chr1:241504229 [GRCh38]
Chr1:241667529 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1482del (p.Glu495fs) deletion Hereditary cancer-predisposing syndrome [RCV002397173] Chr1:241497879 [GRCh38]
Chr1:241661179 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.955G>T (p.Asp319Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374307] Chr1:241504195 [GRCh38]
Chr1:241667495 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.683TCA[1] (p.Ile229del) microsatellite Hereditary cancer-predisposing syndrome [RCV002378000] Chr1:241508653..241508655 [GRCh38]
Chr1:241671953..241671955 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.105G>T (p.Ser35=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404103]|Hereditary leiomyomatosis and renal cell cancer [RCV005248733]|not provided [RCV003100836] Chr1:241519618 [GRCh38]
Chr1:241682918 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1307T>C (p.Val436Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380990] Chr1:241500520 [GRCh38]
Chr1:241663820 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.996C>G (p.Ala332=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382974] Chr1:241504154 [GRCh38]
Chr1:241667454 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.834T>C (p.Ala278=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434715] Chr1:241506073 [GRCh38]
Chr1:241669373 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.835G>A (p.Val279Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434742]|not provided [RCV005097224] Chr1:241506072 [GRCh38]
Chr1:241669372 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.909G>A (p.Leu303=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450007] Chr1:241504241 [GRCh38]
Chr1:241667541 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.336T>C (p.Leu112=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451738]|Hereditary leiomyomatosis and renal cell cancer [RCV005248594]|not provided [RCV003738186] Chr1:241513645 [GRCh38]
Chr1:241676945 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.898C>G (p.Leu300Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376278] Chr1:241506009 [GRCh38]
Chr1:241669309 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.385G>T (p.Glu129Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355544] Chr1:241512137 [GRCh38]
Chr1:241675437 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1519_1521del (p.Leu507del) deletion Hereditary cancer-predisposing syndrome [RCV002392369] Chr1:241497840..241497842 [GRCh38]
Chr1:241661140..241661142 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.9A>G (p.Arg3=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383124] Chr1:241519714 [GRCh38]
Chr1:241683014 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1411A>G (p.Ile471Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389518]|not provided [RCV003095117] Chr1:241497950 [GRCh38]
Chr1:241661250 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.956A>T (p.Asp319Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374318]|not provided [RCV003565545] Chr1:241504194 [GRCh38]
Chr1:241667494 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.-3A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357804] Chr1:241519725 [GRCh38]
Chr1:241683025 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.973A>G (p.Ser325Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376746]|not provided [RCV003103614] Chr1:241504177 [GRCh38]
Chr1:241667477 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.738G>A (p.Gln246=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380448]|not provided [RCV003098562] Chr1:241508603 [GRCh38]
Chr1:241671903 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.189A>G (p.Pro63=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408184]|Hereditary leiomyomatosis and renal cell cancer [RCV005248738]|not provided [RCV003097334] Chr1:241517260 [GRCh38]
Chr1:241680560 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.680A>G (p.Gln227Arg) single nucleotide variant Fumarase deficiency [RCV004572336]|Hereditary cancer-predisposing syndrome [RCV002369528]|not provided [RCV003098390] Chr1:241508661 [GRCh38]
Chr1:241671961 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1413dup (p.Ala472fs) duplication Hereditary cancer-predisposing syndrome [RCV002391649] Chr1:241497947..241497948 [GRCh38]
Chr1:241661247..241661248 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1467T>G (p.Leu489=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396861] Chr1:241497894 [GRCh38]
Chr1:241661194 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1030T>C (p.Phe344Leu) single nucleotide variant Fumarase deficiency [RCV003464512]|Hereditary cancer-predisposing syndrome [RCV002383773]|not provided [RCV005058601] Chr1:241504120 [GRCh38]
Chr1:241667420 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.904G>C (p.Gly302Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378502]|not provided [RCV003100087] Chr1:241506003 [GRCh38]
Chr1:241669303 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.418G>A (p.Val140Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327772] Chr1:241512104 [GRCh38]
Chr1:241675404 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.-5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357994] Chr1:241519727 [GRCh38]
Chr1:241683027 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.423del (p.Trp141fs) deletion Hereditary cancer-predisposing syndrome [RCV002328188] Chr1:241512099 [GRCh38]
Chr1:241675399 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.384T>C (p.Ala128=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355480]|Hereditary leiomyomatosis and renal cell cancer [RCV005248608]|not provided [RCV003718493] Chr1:241512138 [GRCh38]
Chr1:241675438 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1390+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396666]|not provided [RCV003095076] Chr1:241500434 [GRCh38]
Chr1:241663734 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.163_165del (p.Asp55del) deletion Hereditary cancer-predisposing syndrome [RCV002401268] Chr1:241517284..241517286 [GRCh38]
Chr1:241680584..241680586 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.273dup (p.Val92fs) duplication Hereditary cancer-predisposing syndrome [RCV002439225] Chr1:241513707..241513708 [GRCh38]
Chr1:241677007..241677008 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.507T>G (p.Leu169=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335889]|not provided [RCV003776030] Chr1:241512015 [GRCh38]
Chr1:241675315 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1236+2T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364901]|not provided [RCV003476973] Chr1:241502441 [GRCh38]
Chr1:241665741 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.276T>C (p.Val92=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439610]|not provided [RCV003102195] Chr1:241513705 [GRCh38]
Chr1:241677005 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.604G>A (p.Glu202Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358261]|not provided [RCV003098115] Chr1:241508737 [GRCh38]
Chr1:241672037 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.524T>G (p.Val175Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340950] Chr1:241511998 [GRCh38]
Chr1:241675298 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.-3A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321167] Chr1:241519725 [GRCh38]
Chr1:241683025 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1161C>T (p.Val387=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357808]|Hereditary leiomyomatosis and renal cell cancer [RCV005248612]|not provided [RCV003574911] Chr1:241502518 [GRCh38]
Chr1:241665818 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.846T>A (p.Gly282=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447598] Chr1:241506061 [GRCh38]
Chr1:241669361 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.603A>C (p.Ile201=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358198] Chr1:241508738 [GRCh38]
Chr1:241672038 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1012A>T (p.Ile338Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002460318] Chr1:241504138 [GRCh38]
Chr1:241667438 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.129_132+5delinsGAGC indel Hereditary cancer-predisposing syndrome [RCV002383292] Chr1:241519586..241519594 [GRCh38]
Chr1:241682886..241682894 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.121G>A (p.Ala41Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353969] Chr1:241519602 [GRCh38]
Chr1:241682902 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.644A>G (p.His215Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361829]|not provided [RCV003098251] Chr1:241508697 [GRCh38]
Chr1:241671997 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.91G>A (p.Ala31Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371237] Chr1:241519632 [GRCh38]
Chr1:241682932 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.458T>C (p.Val153Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342276] Chr1:241512064 [GRCh38]
Chr1:241675364 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.930T>C (p.Asn310=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371581]|Hereditary leiomyomatosis and renal cell cancer [RCV005248678] Chr1:241504220 [GRCh38]
Chr1:241667520 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1482A>C (p.Ala494=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397161] Chr1:241497879 [GRCh38]
Chr1:241661179 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.24C>T (p.Leu8=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431078]|not provided [RCV005098163] Chr1:241519699 [GRCh38]
Chr1:241682999 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.857G>A (p.Arg286Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447901] Chr1:241506050 [GRCh38]
Chr1:241669350 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1165G>A (p.Gly389Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333084]|not provided [RCV005096490] Chr1:241502514 [GRCh38]
Chr1:241665814 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.654T>G (p.Leu218=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364373]|Hereditary leiomyomatosis and renal cell cancer [RCV005248647]|not provided [RCV003098287] Chr1:241508687 [GRCh38]
Chr1:241671987 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1187_1188delinsCT (p.Val396Ala) indel Hereditary cancer-predisposing syndrome [RCV002340349] Chr1:241502491..241502492 [GRCh38]
Chr1:241665791..241665792 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.45G>C (p.Val15=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342370] Chr1:241519678 [GRCh38]
Chr1:241682978 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.173G>A (p.Gly58Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407484]|not provided [RCV005058684] Chr1:241517276 [GRCh38]
Chr1:241680576 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.143A>G (p.Asn48Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394330] Chr1:241517306 [GRCh38]
Chr1:241680606 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.431G>C (p.Gly144Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332027]|not specified [RCV005239371] Chr1:241512091 [GRCh38]
Chr1:241675391 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.382dup (p.Ala128fs) duplication Hereditary cancer-predisposing syndrome [RCV002355388] Chr1:241512139..241512140 [GRCh38]
Chr1:241675439..241675440 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1287C>A (p.Ser429=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383207] Chr1:241500540 [GRCh38]
Chr1:241663840 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.117G>C (p.Pro39=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342461]|not provided [RCV003102608] Chr1:241519606 [GRCh38]
Chr1:241682906 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1068del (p.Ile357fs) deletion Hereditary cancer-predisposing syndrome [RCV002410554] Chr1:241504082 [GRCh38]
Chr1:241667382 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1068G>A (p.Leu356=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410567] Chr1:241504082 [GRCh38]
Chr1:241667382 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1252C>A (p.His418Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412319] Chr1:241500575 [GRCh38]
Chr1:241663875 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1458T>C (p.Ala486=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394750]|Hereditary leiomyomatosis and renal cell cancer [RCV005248702]|not provided [RCV003095192] Chr1:241497903 [GRCh38]
Chr1:241661203 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.96C>T (p.Ala32=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376648]|Hereditary leiomyomatosis and renal cell cancer [RCV005248681]|not provided [RCV003103606] Chr1:241519627 [GRCh38]
Chr1:241682927 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1095C>T (p.Ser365=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457872] Chr1:241504055 [GRCh38]
Chr1:241667355 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1450G>A (p.Glu484Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394603]|not provided [RCV003229918] Chr1:241497911 [GRCh38]
Chr1:241661211 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.30C>T (p.Arg10=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325954]|Hereditary leiomyomatosis and renal cell cancer [RCV005248582] Chr1:241519693 [GRCh38]
Chr1:241682993 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.86G>T (p.Gly29Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373419] Chr1:241519637 [GRCh38]
Chr1:241682937 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.734G>A (p.Gly245Glu) single nucleotide variant Fumarase deficiency [RCV004572350]|Hereditary cancer-predisposing syndrome [RCV002380243] Chr1:241508607 [GRCh38]
Chr1:241671907 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.188C>T (p.Pro63Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408000] Chr1:241517261 [GRCh38]
Chr1:241680561 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.486T>G (p.Ile162Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340423] Chr1:241512036 [GRCh38]
Chr1:241675336 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.42C>G (p.Leu14=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330297]|not provided [RCV005096539] Chr1:241519681 [GRCh38]
Chr1:241682981 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.566dup (p.Asp189fs) duplication Hereditary cancer-predisposing syndrome [RCV002347351] Chr1:241508774..241508775 [GRCh38]
Chr1:241672074..241672075 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1420A>G (p.Thr474Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391807] Chr1:241497941 [GRCh38]
Chr1:241661241 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1123A>C (p.Thr375Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442187] Chr1:241502556 [GRCh38]
Chr1:241665856 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.596C>A (p.Ala199Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356074] Chr1:241508745 [GRCh38]
Chr1:241672045 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1306G>C (p.Val436Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380969] Chr1:241500521 [GRCh38]
Chr1:241663821 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.825A>T (p.Gly275=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430170] Chr1:241506082 [GRCh38]
Chr1:241669382 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.763_767del (p.Val255fs) deletion Hereditary cancer-predisposing syndrome [RCV002396318] Chr1:241506140..241506144 [GRCh38]
Chr1:241669440..241669444 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1020T>C (p.Asn340=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396270]|not provided [RCV003718554] Chr1:241504130 [GRCh38]
Chr1:241667430 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.556-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352011] Chr1:241508788 [GRCh38]
Chr1:241672088 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1029A>T (p.Arg343=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387686] Chr1:241504121 [GRCh38]
Chr1:241667421 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.958G>A (p.Ala320Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374342]|not provided [RCV003103592] Chr1:241504192 [GRCh38]
Chr1:241667492 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.102C>A (p.Pro34=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387978]|Hereditary leiomyomatosis and renal cell cancer [RCV005248696]|not provided [RCV003095017] Chr1:241519621 [GRCh38]
Chr1:241682921 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.764T>G (p.Val255Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396401] Chr1:241506143 [GRCh38]
Chr1:241669443 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.907T>A (p.Leu303Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449976] Chr1:241504243 [GRCh38]
Chr1:241667543 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1179T>C (p.Ala393=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342211] Chr1:241502500 [GRCh38]
Chr1:241665800 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.718G>T (p.Val240Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370785]|not provided [RCV003698933] Chr1:241508623 [GRCh38]
Chr1:241671923 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.71C>T (p.Ser24Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370846] Chr1:241519652 [GRCh38]
Chr1:241682952 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.907_910del (p.Pro304fs) deletion Hereditary cancer-predisposing syndrome [RCV002378559]|Hereditary leiomyomatosis and renal cell cancer [RCV003456287]|not provided [RCV003774150] Chr1:241504240..241504243 [GRCh38]
Chr1:241667540..241667543 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1050G>C (p.Arg350=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403575] Chr1:241504100 [GRCh38]
Chr1:241667400 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.345G>A (p.Lys115=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002460219]|Hereditary leiomyomatosis and renal cell cancer [RCV005248596]|not provided [RCV003669270] Chr1:241513636 [GRCh38]
Chr1:241676936 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1391-1G>T single nucleotide variant Fumarase deficiency [RCV003465720]|Hereditary cancer-predisposing syndrome [RCV002396686] Chr1:241497971 [GRCh38]
Chr1:241661271 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.82T>C (p.Leu28=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430348]|Hereditary leiomyomatosis and renal cell cancer [RCV005248669] Chr1:241519641 [GRCh38]
Chr1:241682941 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1284T>C (p.Val428=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382994] Chr1:241500543 [GRCh38]
Chr1:241663843 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.782_784del (p.Arg261del) deletion Hereditary cancer-predisposing syndrome [RCV002409993] Chr1:241506123..241506125 [GRCh38]
Chr1:241669423..241669425 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.842C>G (p.Thr281Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414353] Chr1:241506065 [GRCh38]
Chr1:241669365 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.226A>G (p.Thr76Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443859]|not provided [RCV003111533] Chr1:241517223 [GRCh38]
Chr1:241680523 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1171C>T (p.His391Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332055]|not provided [RCV003094647] Chr1:241502508 [GRCh38]
Chr1:241665808 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1272G>A (p.Gly424=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378633] Chr1:241500555 [GRCh38]
Chr1:241663855 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1380T>C (p.Asn460=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381163] Chr1:241500447 [GRCh38]
Chr1:241663747 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1122T>C (p.Pro374=) single nucleotide variant not provided [RCV002861483] Chr1:241502557 [GRCh38]
Chr1:241665857 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.133-14A>C single nucleotide variant not provided [RCV003015535] Chr1:241517330 [GRCh38]
Chr1:241680630 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1460T>G (p.Ile487Ser) single nucleotide variant not provided [RCV002858384] Chr1:241497901 [GRCh38]
Chr1:241661201 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.379-17T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV004790381]|not provided [RCV002616473] Chr1:241512160 [GRCh38]
Chr1:241675460 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1108+8C>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005248879]|not provided [RCV002881626] Chr1:241504034 [GRCh38]
Chr1:241667334 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.479G>C (p.Arg160Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004617155]|not provided [RCV003034965] Chr1:241512043 [GRCh38]
Chr1:241675343 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.555+10T>C single nucleotide variant not provided [RCV002839577] Chr1:241511957 [GRCh38]
Chr1:241675257 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1481C>A (p.Ala494Glu) single nucleotide variant not provided [RCV002795049] Chr1:241497880 [GRCh38]
Chr1:241661180 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1368G>A (p.Val456=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948897]|not provided [RCV003014552] Chr1:241500459 [GRCh38]
Chr1:241663759 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1275T>A (p.Asp425Glu) single nucleotide variant not provided [RCV002994419] Chr1:241500552 [GRCh38]
Chr1:241663852 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.379-13A>G single nucleotide variant not provided [RCV002780103] Chr1:241512156 [GRCh38]
Chr1:241675456 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.463G>A (p.Glu155Lys) single nucleotide variant not provided [RCV002815273] Chr1:241512059 [GRCh38]
Chr1:241675359 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.289G>A (p.Gly97Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004617107]|not provided [RCV002903720] Chr1:241513692 [GRCh38]
Chr1:241676992 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.421del (p.Trp141fs) deletion not provided [RCV003012457] Chr1:241512101 [GRCh38]
Chr1:241675401 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1269_1278del (p.Gly424fs) deletion not provided [RCV002839223] Chr1:241500549..241500558 [GRCh38]
Chr1:241663849..241663858 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.299A>T (p.Lys100Met) single nucleotide variant not provided [RCV002881896] Chr1:241513682 [GRCh38]
Chr1:241676982 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.112C>T (p.Pro38Ser) single nucleotide variant not provided [RCV002730208] Chr1:241519611 [GRCh38]
Chr1:241682911 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1108+9A>T single nucleotide variant not provided [RCV003032982] Chr1:241504033 [GRCh38]
Chr1:241667333 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.379G>A (p.Val127Ile) single nucleotide variant not provided [RCV002971511] Chr1:241512143 [GRCh38]
Chr1:241675443 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1266G>A (p.Leu422=) single nucleotide variant not provided [RCV002881936] Chr1:241500561 [GRCh38]
Chr1:241663861 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.481G>C (p.Ala161Pro) single nucleotide variant not provided [RCV002881430] Chr1:241512041 [GRCh38]
Chr1:241675341 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.904+20A>G single nucleotide variant not provided [RCV002839465] Chr1:241505983 [GRCh38]
Chr1:241669283 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q43(chr1:241094653-242087176)x3 copy number gain not provided [RCV002475661] Chr1:241094653..242087176 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_000143.4(FH):c.1528A>G (p.Lys510Glu) single nucleotide variant not provided [RCV003073952] Chr1:241497833 [GRCh38]
Chr1:241661133 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1236+6C>A single nucleotide variant not provided [RCV002996733] Chr1:241502437 [GRCh38]
Chr1:241665737 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.738+20T>C single nucleotide variant not provided [RCV002815427] Chr1:241508583 [GRCh38]
Chr1:241671883 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.907T>C (p.Leu303=) single nucleotide variant not provided [RCV002996398] Chr1:241504243 [GRCh38]
Chr1:241667543 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.321C>G (p.Asn107Lys) single nucleotide variant not provided [RCV003017001] Chr1:241513660 [GRCh38]
Chr1:241676960 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1523G>A (p.Gly508Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003308343]|not provided [RCV002947357] Chr1:241497838 [GRCh38]
Chr1:241661138 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.796A>G (p.Met266Val) single nucleotide variant not provided [RCV003034350] Chr1:241506111 [GRCh38]
Chr1:241669411 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.61G>C (p.Ala21Pro) single nucleotide variant not provided [RCV003020308] Chr1:241519662 [GRCh38]
Chr1:241682962 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1390+4dup duplication not provided [RCV003020790] Chr1:241500432..241500433 [GRCh38]
Chr1:241663732..241663733 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.254C>A (p.Thr85Lys) single nucleotide variant not provided [RCV003039650] Chr1:241517195 [GRCh38]
Chr1:241680495 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.749G>C (p.Gly250Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004071750]|not provided [RCV003077630] Chr1:241506158 [GRCh38]
Chr1:241669458 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.318A>T (p.Val106=) single nucleotide variant not provided [RCV003021934] Chr1:241513663 [GRCh38]
Chr1:241676963 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.556-19T>G single nucleotide variant not provided [RCV002785539] Chr1:241508804 [GRCh38]
Chr1:241672104 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.378+16T>G single nucleotide variant not provided [RCV003053738] Chr1:241513587 [GRCh38]
Chr1:241676887 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.355_356delinsTT (p.Ala119Leu) indel not provided [RCV002885382] Chr1:241513625..241513626 [GRCh38]
Chr1:241676925..241676926 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1498T>C (p.Trp500Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003382987]|not provided [RCV003000127] Chr1:241497863 [GRCh38]
Chr1:241661163 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.767A>G (p.Lys256Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948778]|not provided [RCV002795733] Chr1:241506140 [GRCh38]
Chr1:241669440 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.411T>A (p.Pro137=) single nucleotide variant not provided [RCV003020154] Chr1:241512111 [GRCh38]
Chr1:241675411 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1416T>A (p.Ala472=) single nucleotide variant not provided [RCV002659176] Chr1:241497945 [GRCh38]
Chr1:241661245 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.229A>G (p.Met77Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358040]|not provided [RCV002998981] Chr1:241517220 [GRCh38]
Chr1:241680520 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1518G>T (p.Met506Ile) single nucleotide variant not provided [RCV002637495] Chr1:241497843 [GRCh38]
Chr1:241661143 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.808T>C (p.Tyr270His) single nucleotide variant not provided [RCV002820164] Chr1:241506099 [GRCh38]
Chr1:241669399 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.485T>C (p.Ile162Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004145569]|not provided [RCV005099735] Chr1:241512037 [GRCh38]
Chr1:241675337 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1289T>A (p.Phe430Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948831]|not provided [RCV002909351] Chr1:241500538 [GRCh38]
Chr1:241663838 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.983T>C (p.Met328Thr) single nucleotide variant not provided [RCV002848059] Chr1:241504167 [GRCh38]
Chr1:241667467 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1204C>A (p.His402Asn) single nucleotide variant not provided [RCV002909432] Chr1:241502475 [GRCh38]
Chr1:241665775 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.93G>T (p.Ala31=) single nucleotide variant not provided [RCV003036525] Chr1:241519630 [GRCh38]
Chr1:241682930 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1039T>C (p.Ser347Pro) single nucleotide variant not provided [RCV002796128] Chr1:241504111 [GRCh38]
Chr1:241667411 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.133-11C>T single nucleotide variant not provided [RCV002999519] Chr1:241517327 [GRCh38]
Chr1:241680627 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.291C>T (p.Gly97=) single nucleotide variant not provided [RCV003053174] Chr1:241513690 [GRCh38]
Chr1:241676990 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.503A>T (p.Glu168Val) single nucleotide variant FH-related disorder [RCV004736183]|Hereditary cancer-predisposing syndrome [RCV004948726]|not provided [RCV002621661] Chr1:241512019 [GRCh38]
Chr1:241675319 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.221G>C (p.Arg74Thr) single nucleotide variant not provided [RCV002999552] Chr1:241517228 [GRCh38]
Chr1:241680528 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.355G>A (p.Ala119Thr) single nucleotide variant not provided [RCV002592344] Chr1:241513626 [GRCh38]
Chr1:241676926 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1217A>G (p.Asn406Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004066187]|not provided [RCV002913694] Chr1:241502462 [GRCh38]
Chr1:241665762 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.556-6C>G single nucleotide variant not provided [RCV002867796] Chr1:241508791 [GRCh38]
Chr1:241672091 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.379-16A>G single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005248877]|not provided [RCV002884949] Chr1:241512159 [GRCh38]
Chr1:241675459 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1257A>C (p.Ser419=) single nucleotide variant not provided [RCV002913398] Chr1:241500570 [GRCh38]
Chr1:241663870 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1463A>T (p.Glu488Val) single nucleotide variant not provided [RCV002848279] Chr1:241497898 [GRCh38]
Chr1:241661198 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1391-6C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004233465] Chr1:241497976 [GRCh38]
Chr1:241661276 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1356T>C (p.Ser452=) single nucleotide variant not provided [RCV002948399] Chr1:241500471 [GRCh38]
Chr1:241663771 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.351T>G (p.Ala117=) single nucleotide variant not provided [RCV002928894] Chr1:241513630 [GRCh38]
Chr1:241676930 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.810T>C (p.Tyr270=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005248847]|not provided [RCV002805810] Chr1:241506097 [GRCh38]
Chr1:241669397 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.335T>C (p.Leu112Pro) single nucleotide variant not provided [RCV002625635] Chr1:241513646 [GRCh38]
Chr1:241676946 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1278T>A (p.Ala426=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004065015]|Hereditary leiomyomatosis and renal cell cancer [RCV005248875]|not provided [RCV002876684] Chr1:241500549 [GRCh38]
Chr1:241663849 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.570T>A (p.Thr190=) single nucleotide variant not provided [RCV002933407] Chr1:241508771 [GRCh38]
Chr1:241672071 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1378A>G (p.Asn460Asp) single nucleotide variant not provided [RCV002576318] Chr1:241500449 [GRCh38]
Chr1:241663749 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1218T>A (p.Asn406Lys) single nucleotide variant Fumarase deficiency [RCV004572624]|not provided [RCV003024459] Chr1:241502461 [GRCh38]
Chr1:241665761 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.555+20T>A single nucleotide variant not provided [RCV003007220] Chr1:241511947 [GRCh38]
Chr1:241675247 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.480A>T (p.Arg160Ser) single nucleotide variant not provided [RCV002791580] Chr1:241512042 [GRCh38]
Chr1:241675342 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.491T>G (p.Met164Arg) single nucleotide variant not provided [RCV002791579] Chr1:241512031 [GRCh38]
Chr1:241675331 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.501T>C (p.Gly167=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005343585]|Hereditary leiomyomatosis and renal cell cancer [RCV005248915]|not provided [RCV003042136] Chr1:241512021 [GRCh38]
Chr1:241675321 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.117G>A (p.Pro39=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358050]|not provided [RCV003024145] Chr1:241519606 [GRCh38]
Chr1:241682906 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1236+15T>C single nucleotide variant not provided [RCV002917182] Chr1:241502428 [GRCh38]
Chr1:241665728 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1323T>C (p.Asn441=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003274294]|Hereditary leiomyomatosis and renal cell cancer [RCV005248961]|not provided [RCV002624118] Chr1:241500504 [GRCh38]
Chr1:241663804 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.274G>T (p.Val92Phe) single nucleotide variant not provided [RCV003006063] Chr1:241513707 [GRCh38]
Chr1:241677007 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.568A>G (p.Thr190Ala) single nucleotide variant not provided [RCV002982344] Chr1:241508773 [GRCh38]
Chr1:241672073 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.661A>G (p.Lys221Glu) single nucleotide variant not provided [RCV002851328] Chr1:241508680 [GRCh38]
Chr1:241671980 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_000143.4(FH):c.1105C>T (p.Pro369Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341526]|not provided [RCV002664225] Chr1:241504045 [GRCh38]
Chr1:241667345 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.738+11T>C single nucleotide variant not provided [RCV002928289] Chr1:241508592 [GRCh38]
Chr1:241671892 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1464A>G (p.Glu488=) single nucleotide variant not provided [RCV002876451] Chr1:241497897 [GRCh38]
Chr1:241661197 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.850A>G (p.Asn284Asp) single nucleotide variant not provided [RCV002786259] Chr1:241506057 [GRCh38]
Chr1:241669357 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.555+14_555+16del deletion not provided [RCV003059576] Chr1:241511951..241511953 [GRCh38]
Chr1:241675251..241675253 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1437_1443del (p.Gly479_Ser480insTer) deletion not provided [RCV002829950] Chr1:241497918..241497924 [GRCh38]
Chr1:241661218..241661224 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.777_779del (p.Met259_Thr260delinsIle) deletion not provided [RCV002872697] Chr1:241506128..241506130 [GRCh38]
Chr1:241669428..241669430 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.379-4G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948848]|Hereditary leiomyomatosis and renal cell cancer [RCV005248890]|not provided [RCV002928890] Chr1:241512147 [GRCh38]
Chr1:241675447 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.243T>G (p.Ile81Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005343505]|not provided [RCV002829944] Chr1:241517206 [GRCh38]
Chr1:241680506 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1238T>C (p.Ile413Thr) single nucleotide variant not provided [RCV002932379] Chr1:241500589 [GRCh38]
Chr1:241663889 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.738+15C>T single nucleotide variant not provided [RCV002828888] Chr1:241508588 [GRCh38]
Chr1:241671888 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.556-9_556-2del deletion not provided [RCV003024677] Chr1:241508787..241508794 [GRCh38]
Chr1:241672087..241672094 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.268A>G (p.Thr90Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004097789]|not provided [RCV005059237] Chr1:241513713 [GRCh38]
Chr1:241677013 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.17G>A (p.Arg6Gln) single nucleotide variant not provided [RCV003047177] Chr1:241519706 [GRCh38]
Chr1:241683006 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1390+3_1390+6del deletion Fumarase deficiency [RCV004571216]|Hereditary cancer-predisposing syndrome [RCV004948751]|not provided [RCV002721145] Chr1:241500431..241500434 [GRCh38]
Chr1:241663731..241663734 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1390+9T>A single nucleotide variant not provided [RCV002806698] Chr1:241500428 [GRCh38]
Chr1:241663728 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1108+19A>G single nucleotide variant not provided [RCV003063901] Chr1:241504023 [GRCh38]
Chr1:241667323 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.622T>G (p.Leu208Val) single nucleotide variant not provided [RCV002938858] Chr1:241508719 [GRCh38]
Chr1:241672019 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.738+1G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005343589]|not provided [RCV003027744] Chr1:241508602 [GRCh38]
Chr1:241671902 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1236+19T>G single nucleotide variant not provided [RCV002632512] Chr1:241502424 [GRCh38]
Chr1:241665724 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1162A>T (p.Met388Leu) single nucleotide variant not provided [RCV002581873] Chr1:241502517 [GRCh38]
Chr1:241665817 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.637A>G (p.Lys213Glu) single nucleotide variant not provided [RCV002810278] Chr1:241508704 [GRCh38]
Chr1:241672004 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-9_1237-8insCTCTCTCT microsatellite not provided [RCV003091642] Chr1:241500598..241500599 [GRCh38]
Chr1:241663898..241663899 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.70T>A (p.Ser24Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004067679]|not provided [RCV002715741] Chr1:241519653 [GRCh38]
Chr1:241682953 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.268-3del deletion not provided [RCV002806265] Chr1:241513716 [GRCh38]
Chr1:241677016 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.555+9_555+10insA insertion not provided [RCV002856409] Chr1:241511957..241511958 [GRCh38]
Chr1:241675257..241675258 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.268-6T>A single nucleotide variant not provided [RCV002806266] Chr1:241513719 [GRCh38]
Chr1:241677019 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1212G>T (p.Glu404Asp) single nucleotide variant not provided [RCV002599333] Chr1:241502467 [GRCh38]
Chr1:241665767 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1109-4G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170906]|not provided [RCV003046527] Chr1:241502574 [GRCh38]
Chr1:241665874 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.556-17T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005248929]|not provided [RCV003062771] Chr1:241508802 [GRCh38]
Chr1:241672102 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.43G>C (p.Val15Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377829]|not provided [RCV003011414] Chr1:241519680 [GRCh38]
Chr1:241682980 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.555+9G>A single nucleotide variant not provided [RCV002834448] Chr1:241511958 [GRCh38]
Chr1:241675258 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.494T>G (p.Leu165Ter) single nucleotide variant not provided [RCV003045635] Chr1:241512028 [GRCh38]
Chr1:241675328 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.7C>A (p.Arg3=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005343499]|not provided [RCV002806477] Chr1:241519716 [GRCh38]
Chr1:241683016 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1067T>C (p.Leu356Ser) single nucleotide variant not provided [RCV002857621] Chr1:241504083 [GRCh38]
Chr1:241667383 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1063G>A (p.Glu355Lys) single nucleotide variant not provided [RCV002938051] Chr1:241504087 [GRCh38]
Chr1:241667387 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.801A>G (p.Pro267=) single nucleotide variant not provided [RCV002833403] Chr1:241506106 [GRCh38]
Chr1:241669406 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1504A>G (p.Lys502Glu) single nucleotide variant not provided [RCV002857343] Chr1:241497857 [GRCh38]
Chr1:241661157 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.790G>C (p.Ala264Pro) single nucleotide variant not provided [RCV002649915] Chr1:241506117 [GRCh38]
Chr1:241669417 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.541G>A (p.Val181Ile) single nucleotide variant not provided [RCV002601370] Chr1:241511981 [GRCh38]
Chr1:241675281 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.132+10G>T single nucleotide variant not provided [RCV002577812] Chr1:241519581 [GRCh38]
Chr1:241682881 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.582A>C (p.Ala194=) single nucleotide variant not provided [RCV003029113] Chr1:241508759 [GRCh38]
Chr1:241672059 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.700A>T (p.Thr234Ser) single nucleotide variant not provided [RCV002811338] Chr1:241508641 [GRCh38]
Chr1:241671941 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.791C>T (p.Ala264Val) single nucleotide variant not provided [RCV002581269] Chr1:241506116 [GRCh38]
Chr1:241669416 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.687C>T (p.Ile229=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948749]|not provided [RCV002716026] Chr1:241508654 [GRCh38]
Chr1:241671954 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.72G>C (p.Ser24=) single nucleotide variant not provided [RCV002834027] Chr1:241519651 [GRCh38]
Chr1:241682951 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.556-18T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005248933]|not provided [RCV003065218] Chr1:241508803 [GRCh38]
Chr1:241672103 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.555+19C>A single nucleotide variant not provided [RCV003044866] Chr1:241511948 [GRCh38]
Chr1:241675248 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.62C>A (p.Ala21Asp) single nucleotide variant not provided [RCV002720686] Chr1:241519661 [GRCh38]
Chr1:241682961 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.905-17A>G single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005248887]|not provided [RCV002939125] Chr1:241504262 [GRCh38]
Chr1:241667562 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1267_1268delinsG (p.Leu423fs) indel not provided [RCV003008977] Chr1:241500559..241500560 [GRCh38]
Chr1:241663859..241663860 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1245T>C (p.Asn415=) single nucleotide variant not provided [RCV003030152] Chr1:241500582 [GRCh38]
Chr1:241663882 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.132+14G>A single nucleotide variant not provided [RCV003089352] Chr1:241519577 [GRCh38]
Chr1:241682877 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.886A>G (p.Lys296Glu) single nucleotide variant not provided [RCV003045602] Chr1:241506021 [GRCh38]
Chr1:241669321 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.124G>A (p.Ala42Thr) single nucleotide variant not provided [RCV002603850] Chr1:241519599 [GRCh38]
Chr1:241682899 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.18G>A (p.Arg6=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170765]|not provided [RCV002944265] Chr1:241519705 [GRCh38]
Chr1:241683005 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.47G>A (p.Arg16Gln) single nucleotide variant Fumarase deficiency [RCV005019634]|not provided [RCV003067771] Chr1:241519676 [GRCh38]
Chr1:241682976 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.99G>A (p.Val33=) single nucleotide variant not provided [RCV002607706] Chr1:241519624 [GRCh38]
Chr1:241682924 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1253A>T (p.His418Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948950]|not provided [RCV003068074] Chr1:241500574 [GRCh38]
Chr1:241663874 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.58G>T (p.Ala20Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004071884]|not provided [RCV003069979] Chr1:241519665 [GRCh38]
Chr1:241682965 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.555+7A>G single nucleotide variant not provided [RCV002726104] Chr1:241511960 [GRCh38]
Chr1:241675260 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.361A>G (p.Met121Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005335645]|not provided [RCV003072602] Chr1:241513620 [GRCh38]
Chr1:241676920 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.955G>A (p.Asp319Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004949025]|not provided [RCV002634357] Chr1:241504195 [GRCh38]
Chr1:241667495 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.526C>T (p.His176Tyr) single nucleotide variant Fumarase deficiency [RCV005019498]|not provided [RCV002943434] Chr1:241511996 [GRCh38]
Chr1:241675296 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.-15A>T single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV004790157] Chr1:241519737 [GRCh38]
Chr1:241683037 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.671A>T (p.Glu224Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278316] Chr1:241508670 [GRCh38]
Chr1:241671970 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1108+2T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278317] Chr1:241504040 [GRCh38]
Chr1:241667340 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.906C>A (p.Gly302=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278319] Chr1:241504244 [GRCh38]
Chr1:241667544 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.14T>G (p.Leu5Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003205407]|not provided [RCV003561228] Chr1:241519709 [GRCh38]
Chr1:241683009 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.123G>T (p.Ala41=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003205413]|Hereditary leiomyomatosis and renal cell cancer [RCV005248985] Chr1:241519600 [GRCh38]
Chr1:241682900 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.81C>G (p.Gly27=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177554] Chr1:241519642 [GRCh38]
Chr1:241682942 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.-5del deletion Hereditary cancer-predisposing syndrome [RCV003177555] Chr1:241519727 [GRCh38]
Chr1:241683027 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.-6_-5delinsCA indel Hereditary cancer-predisposing syndrome [RCV003177556] Chr1:241519727..241519728 [GRCh38]
Chr1:241683027..241683028 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.23T>G (p.Leu8Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177557] Chr1:241519700 [GRCh38]
Chr1:241683000 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.138C>T (p.Ser46=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177558]|not provided [RCV005061034] Chr1:241517311 [GRCh38]
Chr1:241680611 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1425A>T (p.Ala475=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177545] Chr1:241497936 [GRCh38]
Chr1:241661236 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.780A>C (p.Thr260=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177546] Chr1:241506127 [GRCh38]
Chr1:241669427 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.820G>T (p.Ala274Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177553] Chr1:241506087 [GRCh38]
Chr1:241669387 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1459A>T (p.Ile487Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003219429]|not provided [RCV005061095] Chr1:241497902 [GRCh38]
Chr1:241661202 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1480G>A (p.Ala494Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165112] Chr1:241497881 [GRCh38]
Chr1:241661181 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1156C>A (p.Gln386Lys) single nucleotide variant not provided [RCV003147261] Chr1:241502523 [GRCh38]
Chr1:241665823 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1419G>A (p.Lys473=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177548]|not provided [RCV005101146] Chr1:241497942 [GRCh38]
Chr1:241661242 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.435A>T (p.Ser145=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177549] Chr1:241512087 [GRCh38]
Chr1:241675387 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.872A>C (p.Glu291Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177550] Chr1:241506035 [GRCh38]
Chr1:241669335 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1219G>A (p.Val407Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177551] Chr1:241502460 [GRCh38]
Chr1:241665760 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.75T>G (p.Ala25=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177552] Chr1:241519648 [GRCh38]
Chr1:241682948 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.482C>A (p.Ala161Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177559] Chr1:241512040 [GRCh38]
Chr1:241675340 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.982A>C (p.Met328Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003300894]|not provided [RCV003561282] Chr1:241504168 [GRCh38]
Chr1:241667468 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.597T>C (p.Ala199=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003205246] Chr1:241508744 [GRCh38]
Chr1:241672044 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.128G>C (p.Arg43Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165111] Chr1:241519595 [GRCh38]
Chr1:241682895 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.965T>A (p.Val322Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003219455] Chr1:241504185 [GRCh38]
Chr1:241667485 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.538C>T (p.His180Tyr) single nucleotide variant not provided [RCV003227127] Chr1:241511984 [GRCh38]
Chr1:241675284 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.953A>G (p.His318Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177547] Chr1:241504197 [GRCh38]
Chr1:241667497 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1390+50C>T single nucleotide variant not specified [RCV003321079] Chr1:241500387 [GRCh38]
Chr1:241663687 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1360A>G (p.Met454Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310432] Chr1:241500467 [GRCh38]
Chr1:241663767 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.265C>T (p.Pro89Ser) single nucleotide variant Fumarase deficiency [RCV003459819]|Hereditary cancer-predisposing syndrome [RCV003310434]|not provided [RCV003549049] Chr1:241517184 [GRCh38]
Chr1:241680484 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.770A>G (p.Tyr257Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339132] Chr1:241506137 [GRCh38]
Chr1:241669437 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.892G>T (p.Ala298Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339134]|not provided [RCV005104019]|not specified [RCV004701046] Chr1:241506015 [GRCh38]
Chr1:241669315 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.556-11A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339128] Chr1:241508796 [GRCh38]
Chr1:241672096 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.211C>T (p.Gln71Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339129]|Hereditary leiomyomatosis and renal cell cancer [RCV005249505] Chr1:241517238 [GRCh38]
Chr1:241680538 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.292_308del (p.Ile98fs) deletion not provided [RCV003326781] Chr1:241513673..241513689 [GRCh38]
Chr1:241676973..241676989 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.904+2_904+3delinsGG indel not provided [RCV003328145] Chr1:241506000..241506001 [GRCh38]
Chr1:241669300..241669301 [GRCh37]
Chr1:1q43		 not provided
NM_000143.4(FH):c.74C>A (p.Ala25Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339130] Chr1:241519649 [GRCh38]
Chr1:241682949 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.16C>G (p.Arg6Gly) single nucleotide variant Fumarase deficiency [RCV004572947]|Hereditary cancer-predisposing syndrome [RCV003339131] Chr1:241519707 [GRCh38]
Chr1:241683007 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.513C>T (p.Ser171=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339135] Chr1:241512009 [GRCh38]
Chr1:241675309 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.200A>G (p.Tyr67Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339137] Chr1:241517249 [GRCh38]
Chr1:241680549 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327725] Chr1:235215476..247005888 [GRCh38]
Chr1:1q42.3-44		 pathogenic
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 copy number loss Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV003327728] Chr1:230178121..243646135 [GRCh38]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003333897] Chr1:239907336..248919110 [GRCh38]
Chr1:1q43-44		 pathogenic
NM_000143.4(FH):c.307G>T (p.Ala103Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341989] Chr1:241513674 [GRCh38]
Chr1:241676974 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.874A>G (p.Lys292Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387080]|not provided [RCV003549079] Chr1:241506033 [GRCh38]
Chr1:241669333 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.598G>A (p.Ala200Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003369077]|not provided [RCV003778023] Chr1:241508743 [GRCh38]
Chr1:241672043 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1493A>G (p.Asp498Gly) single nucleotide variant Fumarase deficiency [RCV003461568]|not provided [RCV003689090] Chr1:241497868 [GRCh38]
Chr1:241661168 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.32C>A (p.Ser11Ter) single nucleotide variant Fumarase deficiency [RCV003461572] Chr1:241519691 [GRCh38]
Chr1:241682991 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.40_41insG (p.Leu14fs) insertion Fumarase deficiency [RCV003461570] Chr1:241519682..241519683 [GRCh38]
Chr1:241682982..241682983 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.587_593del (p.His196fs) deletion Hereditary leiomyomatosis and renal cell cancer [RCV003456333] Chr1:241508748..241508754 [GRCh38]
Chr1:241672048..241672054 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.738+1G>C single nucleotide variant Fumarase deficiency [RCV005254845]|not provided [RCV003569891] Chr1:241508602 [GRCh38]
Chr1:241671902 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.1491T>C (p.Phe497=) single nucleotide variant not provided [RCV003571478] Chr1:241497870 [GRCh38]
Chr1:241661170 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.940G>A (p.Ala314Thr) single nucleotide variant not provided [RCV003569632] Chr1:241504210 [GRCh38]
Chr1:241667510 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1477dup (p.Thr493fs) duplication Hereditary leiomyomatosis and renal cell cancer [RCV003450150] Chr1:241497883..241497884 [GRCh38]
Chr1:241661183..241661184 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.904+14T>C single nucleotide variant not provided [RCV003543494] Chr1:241505989 [GRCh38]
Chr1:241669289 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.995C>T (p.Ala332Val) single nucleotide variant not provided [RCV003477234] Chr1:241504155 [GRCh38]
Chr1:241667455 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1302_1303del (p.Val435fs) deletion not provided [RCV003543771] Chr1:241500524..241500525 [GRCh38]
Chr1:241663824..241663825 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.791C>G (p.Ala264Gly) single nucleotide variant not provided [RCV003874204] Chr1:241506116 [GRCh38]
Chr1:241669416 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44		 pathogenic
NM_000143.4(FH):c.1512G>A (p.Lys504=) single nucleotide variant not provided [RCV003569281] Chr1:241497849 [GRCh38]
Chr1:241661149 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.864C>T (p.Gly288=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249593]|not provided [RCV003691658] Chr1:241506043 [GRCh38]
Chr1:241669343 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1392G>T (p.Gly464=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004364816]|not provided [RCV003477231] Chr1:241497969 [GRCh38]
Chr1:241661269 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1178C>T (p.Ala393Val) single nucleotide variant not provided [RCV003569082] Chr1:241502501 [GRCh38]
Chr1:241665801 [GRCh37]
Chr1:1q43		 likely pathogenic
GRCh37/hg19 1q43(chr1:240939595-241740770)x3 copy number gain not provided [RCV003484053] Chr1:240939595..241740770 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1234A>T (p.Met412Leu) single nucleotide variant not provided [RCV003477230] Chr1:241502445 [GRCh38]
Chr1:241665745 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.55G>A (p.Ala19Thr) single nucleotide variant not provided [RCV003481598] Chr1:241519668 [GRCh38]
Chr1:241682968 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.415del (p.Val139fs) deletion Hereditary leiomyomatosis and renal cell cancer [RCV003450155] Chr1:241512107 [GRCh38]
Chr1:241675407 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.337del (p.Asp113fs) deletion Fumarase deficiency [RCV003461569] Chr1:241513644 [GRCh38]
Chr1:241676944 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1236+2T>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV003450108] Chr1:241502441 [GRCh38]
Chr1:241665741 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.839del (p.Gly280fs) deletion Fumarase deficiency [RCV003468195] Chr1:241506068 [GRCh38]
Chr1:241669368 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.862G>A (p.Gly288Ser) single nucleotide variant Fumarase deficiency [RCV003461565] Chr1:241506045 [GRCh38]
Chr1:241669345 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1483G>T (p.Glu495Ter) single nucleotide variant Fumarase deficiency [RCV003468193] Chr1:241497878 [GRCh38]
Chr1:241661178 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.29_32delinsTT (p.Arg10fs) indel Fumarase deficiency [RCV003468194]|Hereditary cancer-predisposing syndrome [RCV004364768] Chr1:241519691..241519694 [GRCh38]
Chr1:241682991..241682994 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.233dup (p.Asn78fs) duplication Hereditary leiomyomatosis and renal cell cancer [RCV003450609] Chr1:241517215..241517216 [GRCh38]
Chr1:241680515..241680516 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.122_123del (p.Ala41fs) microsatellite not provided [RCV003442484] Chr1:241519600..241519601 [GRCh38]
Chr1:241682900..241682901 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1128G>A (p.Gln376=) single nucleotide variant not provided [RCV003579127] Chr1:241502551 [GRCh38]
Chr1:241665851 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1156C>T (p.Gln386Ter) single nucleotide variant not provided [RCV003573734] Chr1:241502523 [GRCh38]
Chr1:241665823 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.307G>A (p.Ala103Thr) single nucleotide variant not provided [RCV003579077] Chr1:241513674 [GRCh38]
Chr1:241676974 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.133-7T>C single nucleotide variant not provided [RCV003880503] Chr1:241517323 [GRCh38]
Chr1:241680623 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.267+13dup duplication not provided [RCV003692506] Chr1:241517168..241517169 [GRCh38]
Chr1:241680468..241680469 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1391-17T>A single nucleotide variant not provided [RCV003579165] Chr1:241497987 [GRCh38]
Chr1:241661287 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1470C>G (p.Gly490=) single nucleotide variant not provided [RCV003691354] Chr1:241497891 [GRCh38]
Chr1:241661191 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.266_267+1delinsATT indel not provided [RCV003692508] Chr1:241517181..241517183 [GRCh38]
Chr1:241680481..241680483 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.609T>C (p.Val203=) single nucleotide variant not provided [RCV003695720] Chr1:241508732 [GRCh38]
Chr1:241672032 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-16T>A single nucleotide variant not specified [RCV003494395] Chr1:241500606 [GRCh38]
Chr1:241663906 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.133-15T>C single nucleotide variant not provided [RCV003739453] Chr1:241517331 [GRCh38]
Chr1:241680631 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.379-12T>C single nucleotide variant not provided [RCV003740385] Chr1:241512155 [GRCh38]
Chr1:241675455 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.904+18T>A single nucleotide variant not provided [RCV003579074] Chr1:241505985 [GRCh38]
Chr1:241669285 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.378+19G>A single nucleotide variant not provided [RCV003828551] Chr1:241513584 [GRCh38]
Chr1:241676884 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1109-12G>A single nucleotide variant not provided [RCV003693569] Chr1:241502582 [GRCh38]
Chr1:241665882 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1298del (p.Asn433fs) deletion not provided [RCV003578534] Chr1:241500529 [GRCh38]
Chr1:241663829 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.378+14A>T single nucleotide variant not provided [RCV003713620] Chr1:241513589 [GRCh38]
Chr1:241676889 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.677C>T (p.Ala226Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004950717]|not provided [RCV003829238] Chr1:241508664 [GRCh38]
Chr1:241671964 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1391-12T>G single nucleotide variant not provided [RCV003738973] Chr1:241497982 [GRCh38]
Chr1:241661282 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.267+3_267+4del deletion not provided [RCV003692507] Chr1:241517178..241517179 [GRCh38]
Chr1:241680478..241680479 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.72G>T (p.Ser24=) single nucleotide variant not provided [RCV003577614] Chr1:241519651 [GRCh38]
Chr1:241682951 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.618A>G (p.Val206=) single nucleotide variant not provided [RCV003824562] Chr1:241508723 [GRCh38]
Chr1:241672023 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.647A>C (p.Asp216Ala) single nucleotide variant not provided [RCV003578296] Chr1:241508694 [GRCh38]
Chr1:241671994 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.860T>C (p.Ile287Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004374356]|not provided [RCV003739141] Chr1:241506047 [GRCh38]
Chr1:241669347 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.233A>G (p.Asn78Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004369092]|not provided [RCV003546280] Chr1:241517216 [GRCh38]
Chr1:241680516 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.739-1G>A single nucleotide variant not provided [RCV003547294] Chr1:241506169 [GRCh38]
Chr1:241669469 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.11C>G (p.Ala4Gly) single nucleotide variant not provided [RCV003687739] Chr1:241519712 [GRCh38]
Chr1:241683012 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.73G>C (p.Ala25Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004621944]|not provided [RCV003880673] Chr1:241519650 [GRCh38]
Chr1:241682950 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.905-12T>A single nucleotide variant not provided [RCV003547403] Chr1:241504257 [GRCh38]
Chr1:241667557 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.905-14_905-12del deletion not provided [RCV003574100] Chr1:241504257..241504259 [GRCh38]
Chr1:241667557..241667559 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.40del (p.Leu14fs) deletion Fumarase deficiency [RCV005014932]|not provided [RCV003738705] Chr1:241519683 [GRCh38]
Chr1:241682983 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.607G>A (p.Val203Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005335829]|not provided [RCV003576898] Chr1:241508734 [GRCh38]
Chr1:241672034 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.856A>G (p.Arg286Gly) single nucleotide variant not provided [RCV003878215] Chr1:241506051 [GRCh38]
Chr1:241669351 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1391-13_1391-11del deletion not provided [RCV003696280] Chr1:241497981..241497983 [GRCh38]
Chr1:241661281..241661283 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.738+13del deletion not provided [RCV003713948] Chr1:241508590 [GRCh38]
Chr1:241671890 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1239T>G (p.Ile413Met) single nucleotide variant not provided [RCV003661601] Chr1:241500588 [GRCh38]
Chr1:241663888 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.59C>G (p.Ala20Gly) single nucleotide variant not provided [RCV003714806] Chr1:241519664 [GRCh38]
Chr1:241682964 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1391-3C>T single nucleotide variant not provided [RCV003577957] Chr1:241497973 [GRCh38]
Chr1:241661273 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1236+8T>G single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249622]|not provided [RCV003712858] Chr1:241502435 [GRCh38]
Chr1:241665735 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.267+4A>C single nucleotide variant not provided [RCV003572776] Chr1:241517178 [GRCh38]
Chr1:241680478 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.379-19T>C single nucleotide variant not provided [RCV003574272] Chr1:241512162 [GRCh38]
Chr1:241675462 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1339A>C (p.Lys447Gln) single nucleotide variant not provided [RCV003716234] Chr1:241500488 [GRCh38]
Chr1:241663788 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.701C>A (p.Thr234Asn) single nucleotide variant not provided [RCV003694858] Chr1:241508640 [GRCh38]
Chr1:241671940 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1318G>A (p.Ala440Thr) single nucleotide variant not provided [RCV003686890] Chr1:241500509 [GRCh38]
Chr1:241663809 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1224C>A (p.Phe408Leu) single nucleotide variant not specified [RCV003494406] Chr1:241502455 [GRCh38]
Chr1:241665755 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.273A>G (p.Pro91=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005335788]|not specified [RCV003494407] Chr1:241513708 [GRCh38]
Chr1:241677008 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.-31C>T single nucleotide variant not specified [RCV003494408] Chr1:241519753 [GRCh38]
Chr1:241683053 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1236+4dup duplication Hereditary cancer-predisposing syndrome [RCV004374150]|not provided [RCV003739793] Chr1:241502438..241502439 [GRCh38]
Chr1:241665738..241665739 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.132+16C>T single nucleotide variant not provided [RCV003577346] Chr1:241519575 [GRCh38]
Chr1:241682875 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.905-19A>T single nucleotide variant not provided [RCV003576966] Chr1:241504264 [GRCh38]
Chr1:241667564 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1236+16G>T single nucleotide variant not provided [RCV003662156] Chr1:241502427 [GRCh38]
Chr1:241665727 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1524T>G (p.Gly508=) single nucleotide variant not provided [RCV003689843] Chr1:241497837 [GRCh38]
Chr1:241661137 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.597del (p.Ala200fs) deletion not provided [RCV003692892] Chr1:241508744 [GRCh38]
Chr1:241672044 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1462del (p.Glu488fs) deletion not provided [RCV003692219] Chr1:241497899 [GRCh38]
Chr1:241661199 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1108+16G>T single nucleotide variant not provided [RCV003544623] Chr1:241504026 [GRCh38]
Chr1:241667326 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1252C>G (p.His418Asp) single nucleotide variant not provided [RCV003576457] Chr1:241500575 [GRCh38]
Chr1:241663875 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.*2T>C single nucleotide variant not specified [RCV003494388] Chr1:241497826 [GRCh38]
Chr1:241661126 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1109-3A>T single nucleotide variant not provided [RCV003575616] Chr1:241502573 [GRCh38]
Chr1:241665873 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.905-2A>C single nucleotide variant not provided [RCV003544643] Chr1:241504247 [GRCh38]
Chr1:241667547 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.268-16T>G single nucleotide variant not provided [RCV003574681] Chr1:241513729 [GRCh38]
Chr1:241677029 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.947C>T (p.Ala316Val) single nucleotide variant not provided [RCV003545269] Chr1:241504203 [GRCh38]
Chr1:241667503 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.268-7_268-6del deletion not provided [RCV003572185] Chr1:241513719..241513720 [GRCh38]
Chr1:241677019..241677020 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1285T>C (p.Ser429Pro) single nucleotide variant not provided [RCV003850074] Chr1:241500542 [GRCh38]
Chr1:241663842 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.473_474delinsAA (p.Ser158Lys) indel not provided [RCV003697637] Chr1:241512048..241512049 [GRCh38]
Chr1:241675348..241675349 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.132+15C>T single nucleotide variant not provided [RCV003850499] Chr1:241519576 [GRCh38]
Chr1:241682876 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.607G>T (p.Val203Phe) single nucleotide variant not provided [RCV003699917] Chr1:241508734 [GRCh38]
Chr1:241672034 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.985A>C (p.Asn329His) single nucleotide variant not provided [RCV003581023] Chr1:241504165 [GRCh38]
Chr1:241667465 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.22C>T (p.Leu8Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004366704]|not provided [RCV003810687] Chr1:241519701 [GRCh38]
Chr1:241683001 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.488A>G (p.Glu163Gly) single nucleotide variant not provided [RCV003699402] Chr1:241512034 [GRCh38]
Chr1:241675334 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.904+5G>A single nucleotide variant not provided [RCV003665077] Chr1:241505998 [GRCh38]
Chr1:241669298 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1137A>G (p.Ala379=) single nucleotide variant not provided [RCV003548669] Chr1:241502542 [GRCh38]
Chr1:241665842 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1391-14del deletion not provided [RCV003698548] Chr1:241497984 [GRCh38]
Chr1:241661284 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1237-8A>T single nucleotide variant not provided [RCV003813950] Chr1:241500598 [GRCh38]
Chr1:241663898 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.649G>T (p.Ala217Ser) single nucleotide variant not provided [RCV003561920] Chr1:241508692 [GRCh38]
Chr1:241671992 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.727dup (p.Thr243fs) duplication not provided [RCV003559475] Chr1:241508613..241508614 [GRCh38]
Chr1:241671913..241671914 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1207T>C (p.Phe403Leu) single nucleotide variant not provided [RCV003559524] Chr1:241502472 [GRCh38]
Chr1:241665772 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.555+7_555+8delinsTA indel not provided [RCV003701391] Chr1:241511959..241511960 [GRCh38]
Chr1:241675259..241675260 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1346del (p.Met449fs) deletion not provided [RCV003550017] Chr1:241500481 [GRCh38]
Chr1:241663781 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1176T>C (p.Val392=) single nucleotide variant not provided [RCV003856573] Chr1:241502503 [GRCh38]
Chr1:241665803 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1432_1433delinsG (p.Asn478fs) indel Hereditary leiomyomatosis and renal cell cancer [RCV004589318] Chr1:241497928..241497929 [GRCh38]
Chr1:241661228..241661229 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.133-5T>C single nucleotide variant not provided [RCV003698443] Chr1:241517321 [GRCh38]
Chr1:241680621 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.83T>G (p.Leu28Trp) single nucleotide variant not provided [RCV003560341] Chr1:241519640 [GRCh38]
Chr1:241682940 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.905G>C (p.Gly302Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004621821]|not provided [RCV003561782] Chr1:241504245 [GRCh38]
Chr1:241667545 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1058_1108+19del deletion Hereditary cancer-predisposing syndrome [RCV004950486]|not provided [RCV003580904] Chr1:241504023..241504092 [GRCh38]
Chr1:241667323..241667392 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.60A>G (p.Ala20=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004369350]|Hereditary leiomyomatosis and renal cell cancer [RCV005249549]|not provided [RCV003560723] Chr1:241519663 [GRCh38]
Chr1:241682963 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.651T>C (p.Ala217=) single nucleotide variant not provided [RCV003561683] Chr1:241508690 [GRCh38]
Chr1:241671990 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.51T>C (p.Ala17=) single nucleotide variant not provided [RCV003702147] Chr1:241519672 [GRCh38]
Chr1:241682972 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1238_1239dup (p.Lys414fs) duplication not provided [RCV003549467] Chr1:241500587..241500588 [GRCh38]
Chr1:241663887..241663888 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.133-16G>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249538]|not provided [RCV003559367] Chr1:241517332 [GRCh38]
Chr1:241680632 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.910C>G (p.Pro304Ala) single nucleotide variant not provided [RCV003548646] Chr1:241504240 [GRCh38]
Chr1:241667540 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-14_1237-9del deletion not provided [RCV003561475] Chr1:241500599..241500604 [GRCh38]
Chr1:241663899..241663904 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.763G>T (p.Val255Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004950585]|not provided [RCV003700444] Chr1:241506144 [GRCh38]
Chr1:241669444 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.132+12C>T single nucleotide variant not provided [RCV003668245] Chr1:241519579 [GRCh38]
Chr1:241682879 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1303G>C (p.Val435Leu) single nucleotide variant not provided [RCV003559903] Chr1:241500524 [GRCh38]
Chr1:241663824 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.300G>A (p.Lys100=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004369351]|Hereditary leiomyomatosis and renal cell cancer [RCV005249550]|not provided [RCV003560753] Chr1:241513681 [GRCh38]
Chr1:241676981 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.905-5_905-4insAAAA insertion not provided [RCV003700175] Chr1:241504249..241504250 [GRCh38]
Chr1:241667549..241667550 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1495G>T (p.Glu499Ter) single nucleotide variant not provided [RCV003701386] Chr1:241497866 [GRCh38]
Chr1:241661166 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1391-13A>T single nucleotide variant not provided [RCV003701994] Chr1:241497983 [GRCh38]
Chr1:241661283 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.66A>C (p.Leu22Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005335863]|not provided [RCV003724259] Chr1:241519657 [GRCh38]
Chr1:241682957 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1520T>A (p.Leu507Gln) single nucleotide variant not provided [RCV003723642] Chr1:241497841 [GRCh38]
Chr1:241661141 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1236+6C>T single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249626]|not provided [RCV003724236] Chr1:241502437 [GRCh38]
Chr1:241665737 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1485G>A (p.Glu495=) single nucleotide variant not provided [RCV003665082] Chr1:241497876 [GRCh38]
Chr1:241661176 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.960T>G (p.Ala320=) single nucleotide variant not provided [RCV003701945] Chr1:241504190 [GRCh38]
Chr1:241667490 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1413T>C (p.Ile471=) single nucleotide variant not provided [RCV003700491] Chr1:241497948 [GRCh38]
Chr1:241661248 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.555+9del deletion Hereditary leiomyomatosis and renal cell cancer [RCV005249577]|not provided [RCV003673019] Chr1:241511958 [GRCh38]
Chr1:241675258 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.739-12T>C single nucleotide variant not provided [RCV003679790] Chr1:241506180 [GRCh38]
Chr1:241669480 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.17G>C (p.Arg6Pro) single nucleotide variant not provided [RCV003731926] Chr1:241519706 [GRCh38]
Chr1:241683006 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1012A>C (p.Ile338Leu) single nucleotide variant not provided [RCV003706546] Chr1:241504138 [GRCh38]
Chr1:241667438 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.904+17A>C single nucleotide variant not provided [RCV003711281] Chr1:241505986 [GRCh38]
Chr1:241669286 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1148T>C (p.Val383Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004621922]|not provided [RCV003843562] Chr1:241502531 [GRCh38]
Chr1:241665831 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.905-20G>A single nucleotide variant not provided [RCV003676130] Chr1:241504265 [GRCh38]
Chr1:241667565 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.248G>A (p.Gly83Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004950469]|not provided [RCV003567476] Chr1:241517201 [GRCh38]
Chr1:241680501 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.927G>C (p.Pro309=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249655]|not provided [RCV003845803] Chr1:241504223 [GRCh38]
Chr1:241667523 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.958G>C (p.Ala320Pro) single nucleotide variant not provided [RCV003563942] Chr1:241504192 [GRCh38]
Chr1:241667492 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.219G>C (p.Val73=) single nucleotide variant not provided [RCV003552668] Chr1:241517230 [GRCh38]
Chr1:241680530 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.389G>A (p.Gly130Asp) single nucleotide variant not provided [RCV003844232] Chr1:241512133 [GRCh38]
Chr1:241675433 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.402T>C (p.Asp134=) single nucleotide variant not provided [RCV003565718] Chr1:241512120 [GRCh38]
Chr1:241675420 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.244_245dup (p.Gly83fs) duplication not provided [RCV003551045] Chr1:241517203..241517204 [GRCh38]
Chr1:241680503..241680504 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.102dup (p.Ser35fs) duplication not provided [RCV003565858] Chr1:241519620..241519621 [GRCh38]
Chr1:241682920..241682921 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.363G>C (p.Met121Ile) single nucleotide variant not provided [RCV003683200] Chr1:241513618 [GRCh38]
Chr1:241676918 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.861T>A (p.Ile287=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249543]|not provided [RCV003562410] Chr1:241506046 [GRCh38]
Chr1:241669346 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.623T>C (p.Leu208Ser) single nucleotide variant not provided [RCV003731023] Chr1:241508718 [GRCh38]
Chr1:241672018 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.338A>G (p.Asp113Gly) single nucleotide variant not provided [RCV003680615] Chr1:241513643 [GRCh38]
Chr1:241676943 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.555+8T>A single nucleotide variant not provided [RCV003542731] Chr1:241511959 [GRCh38]
Chr1:241675259 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.556-2A>C single nucleotide variant not provided [RCV003541940] Chr1:241508787 [GRCh38]
Chr1:241672087 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1273G>A (p.Asp425Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004950727]|not provided [RCV003841888] Chr1:241500554 [GRCh38]
Chr1:241663854 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.807C>G (p.Ile269Met) single nucleotide variant Fumarase deficiency [RCV004573247]|not provided [RCV003707788] Chr1:241506100 [GRCh38]
Chr1:241669400 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.43G>A (p.Val15Met) single nucleotide variant not provided [RCV003708924] Chr1:241519680 [GRCh38]
Chr1:241682980 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.556-9T>C single nucleotide variant not provided [RCV003682540] Chr1:241508794 [GRCh38]
Chr1:241672094 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.640_641insACAGAAG (p.Leu214fs) insertion not provided [RCV003678178] Chr1:241508700..241508701 [GRCh38]
Chr1:241672000..241672001 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1014A>G (p.Ile338Met) single nucleotide variant not provided [RCV003709437] Chr1:241504136 [GRCh38]
Chr1:241667436 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1386T>C (p.His462=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249605]|not provided [RCV003718880] Chr1:241500441 [GRCh38]
Chr1:241663741 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1246G>A (p.Val416Met) single nucleotide variant not provided [RCV003685139] Chr1:241500581 [GRCh38]
Chr1:241663881 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.555+5G>T single nucleotide variant not provided [RCV003843147] Chr1:241511962 [GRCh38]
Chr1:241675262 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.446C>A (p.Thr149Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004371629]|not provided [RCV003684074] Chr1:241512076 [GRCh38]
Chr1:241675376 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1224C>T (p.Phe408=) single nucleotide variant not provided [RCV003866986] Chr1:241502455 [GRCh38]
Chr1:241665755 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1015_1024delinsT (p.Ala339_Ile342delinsPhe) indel Hereditary cancer-predisposing syndrome [RCV004950741]|not provided [RCV003865865] Chr1:241504126..241504135 [GRCh38]
Chr1:241667426..241667435 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000143.4(FH):c.57C>G (p.Ala19=) single nucleotide variant not provided [RCV003735616] Chr1:241519666 [GRCh38]
Chr1:241682966 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.32C>G (p.Ser11Trp) single nucleotide variant not provided [RCV003735621] Chr1:241519691 [GRCh38]
Chr1:241682991 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1155C>T (p.Ala385=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004369266]|not provided [RCV003557368] Chr1:241502524 [GRCh38]
Chr1:241665824 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.708T>G (p.Thr236=) single nucleotide variant not provided [RCV003710319] Chr1:241508633 [GRCh38]
Chr1:241671933 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.905-12del deletion not provided [RCV003710565] Chr1:241504257 [GRCh38]
Chr1:241667557 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.526C>G (p.His176Asp) single nucleotide variant not provided [RCV003737544] Chr1:241511996 [GRCh38]
Chr1:241675296 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1390+9T>C single nucleotide variant not provided [RCV003552660] Chr1:241500428 [GRCh38]
Chr1:241663728 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.84_85delinsTT (p.Leu28_Gly29delinsPheCys) indel not provided [RCV003684569] Chr1:241519638..241519639 [GRCh38]
Chr1:241682938..241682939 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.793G>T (p.Ala265Ser) single nucleotide variant not provided [RCV003681683] Chr1:241506114 [GRCh38]
Chr1:241669414 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.94G>C (p.Ala32Pro) single nucleotide variant not provided [RCV003736304] Chr1:241519629 [GRCh38]
Chr1:241682929 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1450G>T (p.Glu484Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005335821]|not provided [RCV003564505] Chr1:241497911 [GRCh38]
Chr1:241661211 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.40C>G (p.Leu14Val) single nucleotide variant not provided [RCV003719038] Chr1:241519683 [GRCh38]
Chr1:241682983 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.356C>A (p.Ala119Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005335804]|not provided [RCV003557233] Chr1:241513625 [GRCh38]
Chr1:241676925 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1255T>G (p.Ser419Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004371631]|not provided [RCV003676763] Chr1:241500572 [GRCh38]
Chr1:241663872 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
GRCh37/hg19 1q43(chr1:239786185-242208644)x1 copy number loss not specified [RCV003986406] Chr1:239786185..242208644 [GRCh37]
Chr1:1q43		 pathogenic
GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3 copy number gain not specified [RCV003986862] Chr1:238681812..249224684 [GRCh37]
Chr1:1q43-44		 likely pathogenic
NM_000143.4(FH):c.768A>G (p.Lys256=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249590]|not provided [RCV003706376] Chr1:241506139 [GRCh38]
Chr1:241669439 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.1109-19A>C single nucleotide variant not provided [RCV003721837] Chr1:241502589 [GRCh38]
Chr1:241665889 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1352A>G (p.Glu451Gly) single nucleotide variant not provided [RCV003721842] Chr1:241500475 [GRCh38]
Chr1:241663775 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.672G>C (p.Glu224Asp) single nucleotide variant not provided [RCV003563765] Chr1:241508669 [GRCh38]
Chr1:241671969 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1134A>G (p.Glu378=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249556]|not provided [RCV003565140] Chr1:241502545 [GRCh38]
Chr1:241665845 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.702T>A (p.Thr234=) single nucleotide variant not provided [RCV003704161] Chr1:241508639 [GRCh38]
Chr1:241671939 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.739-5T>A single nucleotide variant not provided [RCV003681434] Chr1:241506173 [GRCh38]
Chr1:241669473 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.303A>C (p.Arg101=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249657]|not provided [RCV003854050] Chr1:241513678 [GRCh38]
Chr1:241676978 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.793G>C (p.Ala265Pro) single nucleotide variant not provided [RCV003564163] Chr1:241506114 [GRCh38]
Chr1:241669414 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1117A>G (p.Asn373Asp) single nucleotide variant not provided [RCV003554911] Chr1:241502562 [GRCh38]
Chr1:241665862 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.939del (p.Ala314fs) deletion not provided [RCV003554912] Chr1:241504211 [GRCh38]
Chr1:241667511 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1015del (p.Ala339fs) deletion not provided [RCV003567026] Chr1:241504135 [GRCh38]
Chr1:241667435 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.317_318dup (p.Asn107Ter) duplication not provided [RCV003567127] Chr1:241513662..241513663 [GRCh38]
Chr1:241676962..241676963 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.747T>A (p.Ser249Arg) single nucleotide variant not provided [RCV003565986] Chr1:241506160 [GRCh38]
Chr1:241669460 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1309G>C (p.Gly437Arg) single nucleotide variant not provided [RCV003708920] Chr1:241500518 [GRCh38]
Chr1:241663818 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.771T>G (p.Tyr257Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004950541]|not provided [RCV003681220] Chr1:241506136 [GRCh38]
Chr1:241669436 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.133-3T>G single nucleotide variant not provided [RCV003703837] Chr1:241517319 [GRCh38]
Chr1:241680619 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.222A>G (p.Arg74=) single nucleotide variant not provided [RCV003566102] Chr1:241517227 [GRCh38]
Chr1:241680527 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.893C>T (p.Ala298Val) single nucleotide variant not provided [RCV003732501] Chr1:241506014 [GRCh38]
Chr1:241669314 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.901A>T (p.Thr301Ser) single nucleotide variant not provided [RCV003846380] Chr1:241506006 [GRCh38]
Chr1:241669306 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.556-5A>C single nucleotide variant not provided [RCV003703924] Chr1:241508790 [GRCh38]
Chr1:241672090 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.904+11A>G single nucleotide variant not provided [RCV003864315] Chr1:241505992 [GRCh38]
Chr1:241669292 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.383C>T (p.Ala128Val) single nucleotide variant not provided [RCV003729657] Chr1:241512139 [GRCh38]
Chr1:241675439 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.703C>A (p.His235Asn) single nucleotide variant not provided [RCV003563493] Chr1:241508638 [GRCh38]
Chr1:241671938 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1237-1G>C single nucleotide variant not provided [RCV003677165] Chr1:241500591 [GRCh38]
Chr1:241663891 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1391-17T>G single nucleotide variant not provided [RCV003675848] Chr1:241497987 [GRCh38]
Chr1:241661287 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.267+14G>A single nucleotide variant not provided [RCV003542821] Chr1:241517168 [GRCh38]
Chr1:241680468 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237A>G (p.Ile413Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004950446]|not provided [RCV003568004] Chr1:241500590 [GRCh38]
Chr1:241663890 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.738+7G>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249632]|not provided [RCV003728891] Chr1:241508596 [GRCh38]
Chr1:241671896 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.923C>T (p.Ala308Val) single nucleotide variant not provided [RCV003563645] Chr1:241504227 [GRCh38]
Chr1:241667527 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.163G>T (p.Asp55Tyr) single nucleotide variant not provided [RCV003677468] Chr1:241517286 [GRCh38]
Chr1:241680586 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.870A>G (p.Ala290=) single nucleotide variant not provided [RCV003552667] Chr1:241506037 [GRCh38]
Chr1:241669337 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1019del (p.Asn340fs) deletion not provided [RCV003565349] Chr1:241504131 [GRCh38]
Chr1:241667431 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1357C>T (p.Leu453=) single nucleotide variant not provided [RCV003677551] Chr1:241500470 [GRCh38]
Chr1:241663770 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.21C>A (p.Leu7=) single nucleotide variant not provided [RCV003845975] Chr1:241519702 [GRCh38]
Chr1:241683002 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.8G>A (p.Arg3Gln) single nucleotide variant not provided [RCV003841317] Chr1:241519715 [GRCh38]
Chr1:241683015 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1167del (p.Asn390fs) deletion not provided [RCV003736318] Chr1:241502512 [GRCh38]
Chr1:241665812 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.739-14del deletion not provided [RCV003677840] Chr1:241506182 [GRCh38]
Chr1:241669482 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1237-15_1237-14insCTCA insertion FH-related disorder [RCV004555692] Chr1:241500604..241500605 [GRCh38]
Chr1:241663904..241663905 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1017A>G (p.Ala339=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520580] Chr1:241504133 [GRCh38]
Chr1:241667433 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1400A>G (p.Lys467Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520588] Chr1:241497961 [GRCh38]
Chr1:241661261 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1464A>T (p.Glu488Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520590] Chr1:241497897 [GRCh38]
Chr1:241661197 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1533A>C (p.Ter511Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520592] Chr1:241497828 [GRCh38]
Chr1:241661128 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.161A>G (p.Tyr54Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520593] Chr1:241517288 [GRCh38]
Chr1:241680588 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.190A>C (p.Asn64His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520595] Chr1:241517259 [GRCh38]
Chr1:241680559 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.-2C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520597] Chr1:241519724 [GRCh38]
Chr1:241683024 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.377A>T (p.Glu126Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520598] Chr1:241513604 [GRCh38]
Chr1:241676904 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.498A>T (p.Gly166=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520600]|Hereditary leiomyomatosis and renal cell cancer [RCV005249688] Chr1:241512024 [GRCh38]
Chr1:241675324 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.522T>A (p.Pro174=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520601]|Hereditary leiomyomatosis and renal cell cancer [RCV005249689] Chr1:241512000 [GRCh38]
Chr1:241675300 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.559T>C (p.Ser187Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520603] Chr1:241508782 [GRCh38]
Chr1:241672082 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.626C>T (p.Pro209Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520606] Chr1:241508715 [GRCh38]
Chr1:241672015 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.694G>T (p.Gly232Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520610] Chr1:241508647 [GRCh38]
Chr1:241671947 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.745A>G (p.Ser249Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520611] Chr1:241506162 [GRCh38]
Chr1:241669462 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.748G>T (p.Gly250Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520612] Chr1:241506159 [GRCh38]
Chr1:241669459 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.750T>A (p.Gly250=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520613] Chr1:241506157 [GRCh38]
Chr1:241669457 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.782_783del (p.Arg261fs) deletion Hereditary cancer-predisposing syndrome [RCV004520614] Chr1:241506124..241506125 [GRCh38]
Chr1:241669424..241669425 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.85G>A (p.Gly29Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520615] Chr1:241519638 [GRCh38]
Chr1:241682938 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1198A>C (p.Asn400His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520583] Chr1:241502481 [GRCh38]
Chr1:241665781 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1433A>C (p.Asn478Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520589]|not provided [RCV005100674] Chr1:241497928 [GRCh38]
Chr1:241661228 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.16C>A (p.Arg6=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520594] Chr1:241519707 [GRCh38]
Chr1:241683007 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.268-7_268-2del deletion Hereditary cancer-predisposing syndrome [RCV004520596] Chr1:241513715..241513720 [GRCh38]
Chr1:241677015..241677020 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.933A>G (p.Lys311=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520618] Chr1:241504217 [GRCh38]
Chr1:241667517 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.54A>C (p.Pro18=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520602] Chr1:241519669 [GRCh38]
Chr1:241682969 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1231A>T (p.Met411Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520584] Chr1:241502448 [GRCh38]
Chr1:241665748 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1278T>C (p.Ala426=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520585] Chr1:241500549 [GRCh38]
Chr1:241663849 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1469G>T (p.Gly490Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520591] Chr1:241497892 [GRCh38]
Chr1:241661192 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.487G>A (p.Glu163Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520599]|not provided [RCV005100675] Chr1:241512035 [GRCh38]
Chr1:241675335 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.134C>G (p.Ala45Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520587] Chr1:241517315 [GRCh38]
Chr1:241680615 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.565G>A (p.Asp189Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520604] Chr1:241508776 [GRCh38]
Chr1:241672076 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.613G>A (p.Glu205Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520605] Chr1:241508728 [GRCh38]
Chr1:241672028 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.666C>G (p.Ser222=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520608] Chr1:241508675 [GRCh38]
Chr1:241671975 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.685A>T (p.Ile229Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520609] Chr1:241508656 [GRCh38]
Chr1:241671956 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.891G>A (p.Val297=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520616] Chr1:241506016 [GRCh38]
Chr1:241669316 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.990T>C (p.Thr330=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004520619]|Hereditary leiomyomatosis and renal cell cancer [RCV005249690] Chr1:241504160 [GRCh38]
Chr1:241667460 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.-6_6dup (p.Tyr2_Arg3insSerThrMetTyr) duplication Hereditary cancer-predisposing syndrome [RCV004394206] Chr1:241519716..241519717 [GRCh38]
Chr1:241683016..241683017 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1235T>C (p.Met412Thr) single nucleotide variant Fumarase deficiency [RCV004576600] Chr1:241502444 [GRCh38]
Chr1:241665744 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.968A>G (p.Glu323Gly) single nucleotide variant Fumarase deficiency [RCV004576601] Chr1:241504182 [GRCh38]
Chr1:241667482 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1290del (p.Phe430fs) deletion Fumarase deficiency [RCV004576602] Chr1:241500537 [GRCh38]
Chr1:241663837 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1276G>A (p.Ala426Thr) single nucleotide variant Fumarase deficiency [RCV004576599] Chr1:241500551 [GRCh38]
Chr1:241663851 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.739-17_754delinsGAATTGCATAT indel Hereditary cancer-predisposing syndrome [RCV004623358] Chr1:241506153..241506185 [GRCh38]
Chr1:241669453..241669485 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.666C>T (p.Ser222=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623359] Chr1:241508675 [GRCh38]
Chr1:241671975 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.214A>G (p.Thr72Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623360] Chr1:241517235 [GRCh38]
Chr1:241680535 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.915del (p.Phe305fs) deletion Hereditary cancer-predisposing syndrome [RCV004623361] Chr1:241504235 [GRCh38]
Chr1:241667535 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1273G>T (p.Asp425Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623362] Chr1:241500554 [GRCh38]
Chr1:241663854 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1118A>C (p.Asn373Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623363] Chr1:241502561 [GRCh38]
Chr1:241665861 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.790G>A (p.Ala264Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623364] Chr1:241506117 [GRCh38]
Chr1:241669417 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.962T>C (p.Leu321Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623365] Chr1:241504188 [GRCh38]
Chr1:241667488 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1387A>G (p.Ile463Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623372] Chr1:241500440 [GRCh38]
Chr1:241663740 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.523G>A (p.Val175Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623373] Chr1:241511999 [GRCh38]
Chr1:241675299 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1188C>A (p.Val396=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623375] Chr1:241502491 [GRCh38]
Chr1:241665791 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.191A>G (p.Asn64Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623376] Chr1:241517258 [GRCh38]
Chr1:241680558 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.93G>C (p.Ala31=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623377] Chr1:241519630 [GRCh38]
Chr1:241682930 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.505C>T (p.Leu169Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623378] Chr1:241512017 [GRCh38]
Chr1:241675317 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.859dup (p.Ile287fs) duplication Hereditary cancer-predisposing syndrome [RCV004623379] Chr1:241506047..241506048 [GRCh38]
Chr1:241669347..241669348 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.90C>G (p.Gly30=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623380] Chr1:241519633 [GRCh38]
Chr1:241682933 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.310G>T (p.Ala104Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623381] Chr1:241513671 [GRCh38]
Chr1:241676971 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241676893)_(241680626_?)del deletion not provided [RCV004579039] Chr1:241676893..241680626 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1236+23A>G single nucleotide variant not specified [RCV004595993] Chr1:241502420 [GRCh38]
Chr1:241665720 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.949G>A (p.Ala317Thr) single nucleotide variant not specified [RCV004595994] Chr1:241504201 [GRCh38]
Chr1:241667501 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241663727)_(241680626_?)del deletion not provided [RCV004579041] Chr1:241663727..241680626 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.10:g.(?_241667332)_(241672095_?)dup duplication not provided [RCV004579042] Chr1:241667332..241672095 [GRCh37]
Chr1:1q43		 likely pathogenic
NC_000001.10:g.(?_241661078)_(241663787_?)del deletion not provided [RCV004579043] Chr1:241661078..241663787 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.10:g.(?_241661128)_(245027609_?)del deletion not provided [RCV004579203] Chr1:241661128..245027609 [GRCh37]
Chr1:1q43-44		 uncertain significance
NM_000143.4(FH):c.64T>A (p.Leu22Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623347] Chr1:241519659 [GRCh38]
Chr1:241682959 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1494C>G (p.Asp498Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623350] Chr1:241497867 [GRCh38]
Chr1:241661167 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1344G>T (p.Leu448=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623355] Chr1:241500483 [GRCh38]
Chr1:241663783 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.133-24A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623357] Chr1:241517340 [GRCh38]
Chr1:241680640 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.552C>A (p.Ser184Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623385] Chr1:241511970 [GRCh38]
Chr1:241675270 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1186G>A (p.Val396Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623386] Chr1:241502493 [GRCh38]
Chr1:241665793 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1499G>C (p.Trp500Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623387]|not provided [RCV005102192] Chr1:241497862 [GRCh38]
Chr1:241661162 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1297A>G (p.Asn433Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623388] Chr1:241500530 [GRCh38]
Chr1:241663830 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.239A>G (p.Lys80Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623389] Chr1:241517210 [GRCh38]
Chr1:241680510 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.207C>A (p.Gly69=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623392] Chr1:241517242 [GRCh38]
Chr1:241680542 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.500G>A (p.Gly167Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623393] Chr1:241512022 [GRCh38]
Chr1:241675322 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.243T>C (p.Ile81=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623394]|Hereditary leiomyomatosis and renal cell cancer [RCV005249705] Chr1:241517206 [GRCh38]
Chr1:241680506 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.79G>A (p.Gly27Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623395] Chr1:241519644 [GRCh38]
Chr1:241682944 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.711G>C (p.Gln237His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623396] Chr1:241508630 [GRCh38]
Chr1:241671930 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.606A>C (p.Glu202Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623397] Chr1:241508735 [GRCh38]
Chr1:241672035 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.28C>G (p.Arg10Gly) single nucleotide variant not provided [RCV004590611] Chr1:241519695 [GRCh38]
Chr1:241682995 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.764T>C (p.Val255Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623382] Chr1:241506143 [GRCh38]
Chr1:241669443 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.532A>G (p.Asn178Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623383] Chr1:241511990 [GRCh38]
Chr1:241675290 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1276G>T (p.Ala426Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623384] Chr1:241500551 [GRCh38]
Chr1:241663851 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1390+36G>A single nucleotide variant not specified [RCV004595992] Chr1:241500401 [GRCh38]
Chr1:241663701 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1321A>G (p.Asn441Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623344] Chr1:241500506 [GRCh38]
Chr1:241663806 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1517T>C (p.Met506Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623366]|not provided [RCV005102191] Chr1:241497844 [GRCh38]
Chr1:241661144 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.251_267+7del deletion Hereditary leiomyomatosis and renal cell cancer [RCV004690599] Chr1:241517175..241517198 [GRCh38]
Chr1:241680475..241680498 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.814C>T (p.Leu272Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623351] Chr1:241506093 [GRCh38]
Chr1:241669393 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.-2C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623352] Chr1:241519724 [GRCh38]
Chr1:241683024 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.25G>A (p.Ala9Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623367] Chr1:241519698 [GRCh38]
Chr1:241682998 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1180G>C (p.Val394Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623368] Chr1:241502499 [GRCh38]
Chr1:241665799 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.824G>A (p.Gly275Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623369] Chr1:241506083 [GRCh38]
Chr1:241669383 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.253A>G (p.Thr85Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623370] Chr1:241517196 [GRCh38]
Chr1:241680496 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.118A>G (p.Asn40Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004623371] Chr1:241519605 [GRCh38]
Chr1:241682905 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.268-1_274delinsTTAAA indel Hereditary leiomyomatosis and renal cell cancer [RCV004791899] Chr1:241513707..241513714 [GRCh38]
Chr1:241677007..241677014 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1043G>A (p.Gly348Asp) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV004764435] Chr1:241504107 [GRCh38]
Chr1:241667407 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.208G>T (p.Ala70Ser) single nucleotide variant FH-related disorder [RCV004726645] Chr1:241517241 [GRCh38]
Chr1:241680541 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.740A>T (p.Glu247Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005335993]|not provided [RCV004762462] Chr1:241506167 [GRCh38]
Chr1:241669467 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.52C>T (p.Pro18Ser) single nucleotide variant not provided [RCV004726184] Chr1:241519671 [GRCh38]
Chr1:241682971 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1045C>T (p.Pro349Ser) single nucleotide variant not provided [RCV004768435] Chr1:241504105 [GRCh38]
Chr1:241667405 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.278_284delinsA (p.Ile93_Ala95delinsAsn) indel not provided [RCV005052763] Chr1:241513697..241513703 [GRCh38]
Chr1:241676997..241677003 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.132+5G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948031]|not provided [RCV005110273] Chr1:241519586 [GRCh38]
Chr1:241682886 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000143.4(FH):c.35G>C (p.Arg12Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948034] Chr1:241519688 [GRCh38]
Chr1:241682988 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.262A>G (p.Met88Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948041] Chr1:241517187 [GRCh38]
Chr1:241680487 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.173G>C (p.Gly58Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948045] Chr1:241517276 [GRCh38]
Chr1:241680576 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.13-43(chr1:228803269-243112182)x3 copy number gain not provided [RCV004819298] Chr1:228803269..243112182 [GRCh37]
Chr1:1q42.13-43		 pathogenic
NM_000143.4(FH):c.362T>C (p.Met121Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948007]|not provided [RCV005110271] Chr1:241513619 [GRCh38]
Chr1:241676919 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.40C>A (p.Leu14Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948008]|not provided [RCV005061739] Chr1:241519683 [GRCh38]
Chr1:241682983 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.930T>G (p.Asn310Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948010] Chr1:241504220 [GRCh38]
Chr1:241667520 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.11C>T (p.Ala4Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948011]|not provided [RCV005110272] Chr1:241519712 [GRCh38]
Chr1:241683012 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.380T>C (p.Val127Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948019] Chr1:241512142 [GRCh38]
Chr1:241675442 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.902_904+4del deletion Hereditary cancer-predisposing syndrome [RCV004948024] Chr1:241505999..241506005 [GRCh38]
Chr1:241669299..241669305 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.247G>A (p.Gly83Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948027] Chr1:241517202 [GRCh38]
Chr1:241680502 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.952C>G (p.His318Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948028] Chr1:241504198 [GRCh38]
Chr1:241667498 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.792T>A (p.Ala264=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948029] Chr1:241506115 [GRCh38]
Chr1:241669415 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.971T>C (p.Leu324Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948030] Chr1:241504179 [GRCh38]
Chr1:241667479 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.7del (p.Arg3fs) deletion Hereditary cancer-predisposing syndrome [RCV004948009] Chr1:241519716 [GRCh38]
Chr1:241683016 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.970C>T (p.Leu324Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948018] Chr1:241504180 [GRCh38]
Chr1:241667480 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.262A>T (p.Met88Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948020] Chr1:241517187 [GRCh38]
Chr1:241680487 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.26C>T (p.Ala9Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948021]|not provided [RCV005061740] Chr1:241519697 [GRCh38]
Chr1:241682997 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1182C>T (p.Val394=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948023] Chr1:241502497 [GRCh38]
Chr1:241665797 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.876G>A (p.Lys292=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948046] Chr1:241506031 [GRCh38]
Chr1:241669331 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.357A>G (p.Ala119=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948016]|Hereditary leiomyomatosis and renal cell cancer [RCV005249746] Chr1:241513624 [GRCh38]
Chr1:241676924 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.655G>T (p.Asp219Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948026] Chr1:241508686 [GRCh38]
Chr1:241671986 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.731_738+3delinsAAAT indel Hereditary cancer-predisposing syndrome [RCV004948032] Chr1:241508600..241508610 [GRCh38]
Chr1:241671900..241671910 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.132+1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948038] Chr1:241519590 [GRCh38]
Chr1:241682890 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1167G>C (p.Gly389=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948039] Chr1:241502512 [GRCh38]
Chr1:241665812 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.596C>T (p.Ala199Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948043]|not provided [RCV005110275] Chr1:241508745 [GRCh38]
Chr1:241672045 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.132+1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948044] Chr1:241519590 [GRCh38]
Chr1:241682890 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1487A>G (p.Gln496Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948049] Chr1:241497874 [GRCh38]
Chr1:241661174 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.972C>T (p.Leu324=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948015] Chr1:241504178 [GRCh38]
Chr1:241667478 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1365G>T (p.Leu455Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948017] Chr1:241500462 [GRCh38]
Chr1:241663762 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.875del (p.Lys292fs) deletion Hereditary cancer-predisposing syndrome [RCV004948022] Chr1:241506032 [GRCh38]
Chr1:241669332 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.492G>A (p.Met164Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948033] Chr1:241512030 [GRCh38]
Chr1:241675330 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.63C>G (p.Ala21=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948048] Chr1:241519660 [GRCh38]
Chr1:241682960 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.184G>T (p.Val62Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948006]|not provided [RCV005110270] Chr1:241517265 [GRCh38]
Chr1:241680565 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1292C>G (p.Thr431Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948037] Chr1:241500535 [GRCh38]
Chr1:241663835 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.735G>A (p.Gly245=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948040]|Hereditary leiomyomatosis and renal cell cancer [RCV005249747] Chr1:241508606 [GRCh38]
Chr1:241671906 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.379-2A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948042]|not provided [RCV005110274] Chr1:241512145 [GRCh38]
Chr1:241675445 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.-9C>T single nucleotide variant not provided [RCV005001500] Chr1:241519731 [GRCh38]
Chr1:241683031 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.466G>A (p.Val156Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948012] Chr1:241512056 [GRCh38]
Chr1:241675356 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.377A>C (p.Glu126Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948013] Chr1:241513604 [GRCh38]
Chr1:241676904 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.24C>G (p.Leu8=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948014]|Hereditary leiomyomatosis and renal cell cancer [RCV005249745] Chr1:241519699 [GRCh38]
Chr1:241682999 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.373G>A (p.Asp125Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948035] Chr1:241513608 [GRCh38]
Chr1:241676908 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1364T>A (p.Leu455Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948025] Chr1:241500463 [GRCh38]
Chr1:241663763 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1416T>C (p.Ala472=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948036] Chr1:241497945 [GRCh38]
Chr1:241661245 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.751del (p.Tyr251fs) deletion not provided [RCV005001499] Chr1:241506156 [GRCh38]
Chr1:241669456 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.904+13G>T single nucleotide variant not provided [RCV005147359] Chr1:241505990 [GRCh38]
Chr1:241669290 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.89G>C (p.Gly30Ala) single nucleotide variant not provided [RCV005106258] Chr1:241519634 [GRCh38]
Chr1:241682934 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.84G>C (p.Leu28Phe) single nucleotide variant not provided [RCV005106259] Chr1:241519639 [GRCh38]
Chr1:241682939 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.280_285del (p.Lys94_Ala95del) deletion not provided [RCV005196921] Chr1:241513696..241513701 [GRCh38]
Chr1:241676996..241677001 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.979G>T (p.Ala327Ser) single nucleotide variant not provided [RCV005147643] Chr1:241504171 [GRCh38]
Chr1:241667471 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.401A>G (p.Asp134Gly) single nucleotide variant not provided [RCV005174728] Chr1:241512121 [GRCh38]
Chr1:241675421 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.13C>A (p.Leu5Ile) single nucleotide variant not provided [RCV005106260] Chr1:241519710 [GRCh38]
Chr1:241683010 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.229A>C (p.Met77Leu) single nucleotide variant not provided [RCV005170812] Chr1:241517220 [GRCh38]
Chr1:241680520 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.19C>G (p.Leu7Val) single nucleotide variant not provided [RCV005064623] Chr1:241519704 [GRCh38]
Chr1:241683004 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.555+4A>T single nucleotide variant not provided [RCV005085637] Chr1:241511963 [GRCh38]
Chr1:241675263 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1383T>C (p.Pro461=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249805]|not provided [RCV005172929] Chr1:241500444 [GRCh38]
Chr1:241663744 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.87T>A (p.Gly29=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246295] Chr1:241519636 [GRCh38]
Chr1:241682936 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.468C>T (p.Val156=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246480] Chr1:241512054 [GRCh38]
Chr1:241675354 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1048C>A (p.Arg350=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246524] Chr1:241504102 [GRCh38]
Chr1:241667402 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1391-7dup duplication Hereditary leiomyomatosis and renal cell cancer [RCV005247667] Chr1:241497976..241497977 [GRCh38]
Chr1:241661276..241661277 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.905-20G>T single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246297] Chr1:241504265 [GRCh38]
Chr1:241667565 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.333T>C (p.Gly111=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246300] Chr1:241513648 [GRCh38]
Chr1:241676948 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1264C>T (p.Leu422=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246342] Chr1:241500563 [GRCh38]
Chr1:241663863 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1391-16T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246390] Chr1:241497986 [GRCh38]
Chr1:241661286 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.531C>T (p.Pro177=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246396] Chr1:241511991 [GRCh38]
Chr1:241675291 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1287C>G (p.Ser429=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247608] Chr1:241500540 [GRCh38]
Chr1:241663840 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.337G>A (p.Asp113Asn) single nucleotide variant not provided [RCV005062339] Chr1:241513644 [GRCh38]
Chr1:241676944 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.769T>C (p.Tyr257His) single nucleotide variant not provided [RCV005170880] Chr1:241506138 [GRCh38]
Chr1:241669438 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.38C>G (p.Pro13Arg) single nucleotide variant not provided [RCV005173899] Chr1:241519685 [GRCh38]
Chr1:241682985 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.778A>G (p.Thr260Ala) single nucleotide variant not provided [RCV005066778] Chr1:241506129 [GRCh38]
Chr1:241669429 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.800C>G (p.Pro267Arg) single nucleotide variant Fumarase deficiency [RCV005012248] Chr1:241506107 [GRCh38]
Chr1:241669407 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.378+11A>G single nucleotide variant Fumarase deficiency [RCV005020412] Chr1:241513592 [GRCh38]
Chr1:241676892 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-3A>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246261] Chr1:241500593 [GRCh38]
Chr1:241663893 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.739-6T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246314] Chr1:241506174 [GRCh38]
Chr1:241669474 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1047T>A (p.Pro349=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246329] Chr1:241504103 [GRCh38]
Chr1:241667403 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1527A>T (p.Pro509=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246344] Chr1:241497834 [GRCh38]
Chr1:241661134 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.267+3_267+64dup duplication Hereditary leiomyomatosis and renal cell cancer [RCV005246525] Chr1:241517117..241517118 [GRCh38]
Chr1:241680417..241680418 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.556-10T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247600] Chr1:241508795 [GRCh38]
Chr1:241672095 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1099A>G (p.Ile367Val) single nucleotide variant not provided [RCV005129508] Chr1:241504051 [GRCh38]
Chr1:241667351 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.879T>G (p.Val293=) single nucleotide variant not provided [RCV005162160] Chr1:241506028 [GRCh38]
Chr1:241669328 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.477T>G (p.Asn159Lys) single nucleotide variant not provided [RCV005202408] Chr1:241512045 [GRCh38]
Chr1:241675345 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.780A>G (p.Thr260=) single nucleotide variant not provided [RCV005116627] Chr1:241506127 [GRCh38]
Chr1:241669427 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1164G>A (p.Met388Ile) single nucleotide variant not provided [RCV005122098] Chr1:241502515 [GRCh38]
Chr1:241665815 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1301G>T (p.Cys434Phe) single nucleotide variant not provided [RCV005200410] Chr1:241500526 [GRCh38]
Chr1:241663826 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1490T>G (p.Phe497Cys) single nucleotide variant not provided [RCV005197186] Chr1:241497871 [GRCh38]
Chr1:241661171 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1109-2A>G single nucleotide variant not provided [RCV005204212] Chr1:241502572 [GRCh38]
Chr1:241665872 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1112A>C (p.Lys371Thr) single nucleotide variant not provided [RCV005132995] Chr1:241502567 [GRCh38]
Chr1:241665867 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.753T>C (p.Tyr251=) single nucleotide variant not provided [RCV005182137] Chr1:241506154 [GRCh38]
Chr1:241669454 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.93_132+211del deletion not provided [RCV005122699] Chr1:241519380..241519630 [GRCh38]
Chr1:241682680..241682930 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.30_47dup (p.Arg16_Ala17insSerArgProLeuValArg) duplication not provided [RCV005136136] Chr1:241519675..241519676 [GRCh38]
Chr1:241682975..241682976 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.570T>G (p.Thr190=) single nucleotide variant not provided [RCV005113255] Chr1:241508771 [GRCh38]
Chr1:241672071 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.905-19A>C single nucleotide variant not provided [RCV005118114] Chr1:241504264 [GRCh38]
Chr1:241667564 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.268-1G>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005238426] Chr1:241513714 [GRCh38]
Chr1:241677014 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.290G>T (p.Gly97Val) single nucleotide variant not provided [RCV005202411] Chr1:241513691 [GRCh38]
Chr1:241676991 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.556-17T>G single nucleotide variant not provided [RCV005165266] Chr1:241508802 [GRCh38]
Chr1:241672102 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.645T>C (p.His215=) single nucleotide variant not provided [RCV005070868] Chr1:241508696 [GRCh38]
Chr1:241671996 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.9A>T (p.Arg3=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249825]|not provided [RCV005200293] Chr1:241519714 [GRCh38]
Chr1:241683014 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.707_710del (p.Thr236fs) deletion not provided [RCV005201276] Chr1:241508631..241508634 [GRCh38]
Chr1:241671931..241671934 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1251_1272del (p.His418fs) deletion not provided [RCV005128525] Chr1:241500555..241500576 [GRCh38]
Chr1:241663855..241663876 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1460T>A (p.Ile487Asn) single nucleotide variant not provided [RCV005177364] Chr1:241497901 [GRCh38]
Chr1:241661201 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.457G>A (p.Val153Ile) single nucleotide variant not provided [RCV005132169] Chr1:241512065 [GRCh38]
Chr1:241675365 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1109-15G>C single nucleotide variant not provided [RCV005133442] Chr1:241502585 [GRCh38]
Chr1:241665885 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1050G>A (p.Arg350=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246273] Chr1:241504100 [GRCh38]
Chr1:241667400 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.945G>A (p.Leu315=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246338] Chr1:241504205 [GRCh38]
Chr1:241667505 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.*7T>A single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246362] Chr1:241497821 [GRCh38]
Chr1:241661121 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.379-10T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246382] Chr1:241512153 [GRCh38]
Chr1:241675453 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.591T>A (p.Ile197=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246435] Chr1:241508750 [GRCh38]
Chr1:241672050 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.501T>G (p.Gly167=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246455] Chr1:241512021 [GRCh38]
Chr1:241675321 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1391-14dup duplication Hereditary leiomyomatosis and renal cell cancer [RCV005246533] Chr1:241497983..241497984 [GRCh38]
Chr1:241661283..241661284 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.739-23_739-19del deletion Hereditary leiomyomatosis and renal cell cancer [RCV005246574] Chr1:241506187..241506191 [GRCh38]
Chr1:241669487..241669491 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1476C>T (p.Leu492=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247602] Chr1:241497885 [GRCh38]
Chr1:241661185 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.905-12dup duplication Hereditary leiomyomatosis and renal cell cancer [RCV005247611] Chr1:241504256..241504257 [GRCh38]
Chr1:241667556..241667557 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.882T>C (p.Ala294=) single nucleotide variant not provided [RCV005123659] Chr1:241506025 [GRCh38]
Chr1:241669325 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.241_267+5del deletion not provided [RCV005131195] Chr1:241517177..241517208 [GRCh38]
Chr1:241680477..241680508 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1044T>G (p.Gly348=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005247727] Chr1:241504106 [GRCh38]
Chr1:241667406 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.132+16del deletion not provided [RCV005124537] Chr1:241519575 [GRCh38]
Chr1:241682875 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.132+17A>G single nucleotide variant not provided [RCV005203659] Chr1:241519574 [GRCh38]
Chr1:241682874 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1059G>A (p.Leu353=) single nucleotide variant not provided [RCV005072248] Chr1:241504091 [GRCh38]
Chr1:241667391 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.521C>T (p.Pro174Leu) single nucleotide variant not provided [RCV005167903]|not specified [RCV005417505] Chr1:241512001 [GRCh38]
Chr1:241675301 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1391-6C>A single nucleotide variant not specified [RCV005232544] Chr1:241497976 [GRCh38]
Chr1:241661276 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.556-14A>C single nucleotide variant not provided [RCV005156858] Chr1:241508799 [GRCh38]
Chr1:241672099 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1501del (p.Trp500_Val501insTer) deletion not provided [RCV005141235] Chr1:241497860 [GRCh38]
Chr1:241661160 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1109-18T>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246299] Chr1:241502588 [GRCh38]
Chr1:241665888 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.*4A>G single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246302] Chr1:241497824 [GRCh38]
Chr1:241661124 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.582A>G (p.Ala194=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246313] Chr1:241508759 [GRCh38]
Chr1:241672059 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.216C>A (p.Thr72=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005246521] Chr1:241517233 [GRCh38]
Chr1:241680533 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.626C>G (p.Pro209Arg) single nucleotide variant not provided [RCV005069097] Chr1:241508715 [GRCh38]
Chr1:241672015 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.728C>G (p.Thr243Ser) single nucleotide variant not provided [RCV005116530] Chr1:241508613 [GRCh38]
Chr1:241671913 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1391-22C>T single nucleotide variant not specified [RCV005232545] Chr1:241497992 [GRCh38]
Chr1:241661292 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.378+50C>T single nucleotide variant not specified [RCV005232548] Chr1:241513553 [GRCh38]
Chr1:241676853 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.133-30C>T single nucleotide variant not specified [RCV005232549] Chr1:241517346 [GRCh38]
Chr1:241680646 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1060G>A (p.Gly354Arg) single nucleotide variant not provided [RCV005202398] Chr1:241504090 [GRCh38]
Chr1:241667390 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.278T>A (p.Ile93Asn) single nucleotide variant not provided [RCV005202413] Chr1:241513703 [GRCh38]
Chr1:241677003 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-50TC[13] microsatellite not specified [RCV005232546] Chr1:241500603..241500614 [GRCh38]
Chr1:241663903..241663914 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.286T>C (p.Phe96Leu) single nucleotide variant not provided [RCV005202611] Chr1:241513695 [GRCh38]
Chr1:241676995 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1213T>C (p.Leu405=) single nucleotide variant not provided [RCV005168609] Chr1:241502466 [GRCh38]
Chr1:241665766 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.905-16T>A single nucleotide variant not specified [RCV005232547] Chr1:241504261 [GRCh38]
Chr1:241667561 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1391-13A>G single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249784]|not provided [RCV005136446] Chr1:241497983 [GRCh38]
Chr1:241661283 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.268-3T>C single nucleotide variant not provided [RCV005151780] Chr1:241513716 [GRCh38]
Chr1:241677016 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.916G>C (p.Val306Leu) single nucleotide variant not provided [RCV005144513] Chr1:241504234 [GRCh38]
Chr1:241667534 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1143C>T (p.Thr381=) single nucleotide variant not provided [RCV005073546] Chr1:241502536 [GRCh38]
Chr1:241665836 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.543TAA[1] (p.Asn182del) microsatellite not provided [RCV005130995] Chr1:241511974..241511976 [GRCh38]
Chr1:241675274..241675276 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.902C>T (p.Thr301Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005338573]|not provided [RCV005160025] Chr1:241506005 [GRCh38]
Chr1:241669305 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1444T>C (p.Leu482=) single nucleotide variant not provided [RCV005167348] Chr1:241497917 [GRCh38]
Chr1:241661217 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1007T>A (p.Met336Lys) single nucleotide variant not provided [RCV005117335] Chr1:241504143 [GRCh38]
Chr1:241667443 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.973A>C (p.Ser325Arg) single nucleotide variant not provided [RCV005142569] Chr1:241504177 [GRCh38]
Chr1:241667477 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-16_1237-9del deletion not provided [RCV005167465] Chr1:241500599..241500606 [GRCh38]
Chr1:241663899..241663906 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.555+8T>C single nucleotide variant not provided [RCV005167483] Chr1:241511959 [GRCh38]
Chr1:241675259 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.555+13G>A single nucleotide variant not provided [RCV005160398] Chr1:241511954 [GRCh38]
Chr1:241675254 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.234C>G (p.Asn78Lys) single nucleotide variant not provided [RCV005187032] Chr1:241517215 [GRCh38]
Chr1:241680515 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.716C>T (p.Ala239Val) single nucleotide variant not provided [RCV005119456] Chr1:241508625 [GRCh38]
Chr1:241671925 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1260C>G (p.Ala420=) single nucleotide variant not provided [RCV005140553] Chr1:241500567 [GRCh38]
Chr1:241663867 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.739-15T>C single nucleotide variant not provided [RCV005206961] Chr1:241506183 [GRCh38]
Chr1:241669483 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.556-1G>A single nucleotide variant not provided [RCV005177076] Chr1:241508786 [GRCh38]
Chr1:241672086 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.267+6T>G single nucleotide variant not provided [RCV005206956] Chr1:241517176 [GRCh38]
Chr1:241680476 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.441T>A (p.Thr147=) single nucleotide variant not provided [RCV005207131] Chr1:241512081 [GRCh38]
Chr1:241675381 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.209C>G (p.Ala70Gly) single nucleotide variant not provided [RCV005125523] Chr1:241517240 [GRCh38]
Chr1:241680540 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.132+19C>A single nucleotide variant not provided [RCV005155477] Chr1:241519572 [GRCh38]
Chr1:241682872 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.379-15A>G single nucleotide variant not provided [RCV005141807] Chr1:241512158 [GRCh38]
Chr1:241675458 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1281A>G (p.Ser427=) single nucleotide variant not provided [RCV005128103] Chr1:241500546 [GRCh38]
Chr1:241663846 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1440A>G (p.Ser480=) single nucleotide variant not provided [RCV005134383] Chr1:241497921 [GRCh38]
Chr1:241661221 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.975T>A (p.Ser325Arg) single nucleotide variant not provided [RCV005137995] Chr1:241504175 [GRCh38]
Chr1:241667475 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.520C>T (p.Pro174Ser) single nucleotide variant not provided [RCV005083350] Chr1:241512002 [GRCh38]
Chr1:241675302 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.469A>C (p.Ile157Leu) single nucleotide variant not provided [RCV005128171] Chr1:241512053 [GRCh38]
Chr1:241675353 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1153G>C (p.Ala385Pro) single nucleotide variant not provided [RCV005132781] Chr1:241502526 [GRCh38]
Chr1:241665826 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1179T>A (p.Ala393=) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249785]|not provided [RCV005136855] Chr1:241502500 [GRCh38]
Chr1:241665800 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.457G>T (p.Val153Leu) single nucleotide variant not provided [RCV005158374] Chr1:241512065 [GRCh38]
Chr1:241675365 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1203A>C (p.Gly401=) single nucleotide variant not provided [RCV005139076] Chr1:241502476 [GRCh38]
Chr1:241665776 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1052C>T (p.Ser351Leu) single nucleotide variant not provided [RCV005077133] Chr1:241504098 [GRCh38]
Chr1:241667398 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.132+7G>T single nucleotide variant not provided [RCV005162258] Chr1:241519584 [GRCh38]
Chr1:241682884 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1194C>G (p.Gly398=) single nucleotide variant not provided [RCV005141011] Chr1:241502485 [GRCh38]
Chr1:241665785 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1139T>C (p.Met380Thr) single nucleotide variant not provided [RCV005128539] Chr1:241502540 [GRCh38]
Chr1:241665840 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1344G>C (p.Leu448=) single nucleotide variant not provided [RCV005136133] Chr1:241500483 [GRCh38]
Chr1:241663783 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.218T>C (p.Val73Ala) single nucleotide variant not provided [RCV005083585] Chr1:241517231 [GRCh38]
Chr1:241680531 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.165T>C (p.Asp55=) single nucleotide variant not provided [RCV005118364] Chr1:241517284 [GRCh38]
Chr1:241680584 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1029A>G (p.Arg343=) single nucleotide variant not provided [RCV005139309] Chr1:241504121 [GRCh38]
Chr1:241667421 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.453G>C (p.Met151Ile) single nucleotide variant not provided [RCV005118572] Chr1:241512069 [GRCh38]
Chr1:241675369 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.1010A>G (p.Lys337Arg) single nucleotide variant not provided [RCV005136256] Chr1:241504140 [GRCh38]
Chr1:241667440 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.267+10del deletion Hereditary leiomyomatosis and renal cell cancer [RCV005249783]|not provided [RCV005139326] Chr1:241517172 [GRCh38]
Chr1:241680472 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.267+14G>T single nucleotide variant not provided [RCV005134957] Chr1:241517168 [GRCh38]
Chr1:241680468 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1111A>G (p.Lys371Glu) single nucleotide variant not provided [RCV005131364] Chr1:241502568 [GRCh38]
Chr1:241665868 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.132+13C>T single nucleotide variant not provided [RCV005136428] Chr1:241519578 [GRCh38]
Chr1:241682878 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.378+11A>T single nucleotide variant not provided [RCV005166154] Chr1:241513592 [GRCh38]
Chr1:241676892 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.904+17A>G single nucleotide variant not provided [RCV005141469] Chr1:241505986 [GRCh38]
Chr1:241669286 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1011G>A (p.Lys337=) single nucleotide variant not provided [RCV005134265] Chr1:241504139 [GRCh38]
Chr1:241667439 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.652C>T (p.Leu218Phe) single nucleotide variant not provided [RCV005134266] Chr1:241508689 [GRCh38]
Chr1:241671989 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1236+13T>C single nucleotide variant not provided [RCV005178911] Chr1:241502430 [GRCh38]
Chr1:241665730 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1013T>G (p.Ile338Arg) single nucleotide variant not provided [RCV005122596] Chr1:241504137 [GRCh38]
Chr1:241667437 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.964G>A (p.Val322Ile) single nucleotide variant not provided [RCV005110991] Chr1:241504186 [GRCh38]
Chr1:241667486 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.12A>C (p.Ala4=) single nucleotide variant not provided [RCV005203278] Chr1:241519711 [GRCh38]
Chr1:241683011 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1514dup (p.Asp505fs) duplication not provided [RCV005126107] Chr1:241497846..241497847 [GRCh38]
Chr1:241661146..241661147 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1121del (p.Pro374fs) deletion not provided [RCV005127297] Chr1:241502558 [GRCh38]
Chr1:241665858 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1250T>C (p.Leu417Ser) single nucleotide variant not provided [RCV005128526] Chr1:241500577 [GRCh38]
Chr1:241663877 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1193G>A (p.Gly398Asp) single nucleotide variant not provided [RCV005150722] Chr1:241502486 [GRCh38]
Chr1:241665786 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.297G>A (p.Leu99=) single nucleotide variant not provided [RCV005202234] Chr1:241513684 [GRCh38]
Chr1:241676984 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.29G>C (p.Arg10Pro) single nucleotide variant not provided [RCV005069791] Chr1:241519694 [GRCh38]
Chr1:241682994 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.900del (p.Thr301fs) deletion not provided [RCV005127509] Chr1:241506007 [GRCh38]
Chr1:241669307 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1113G>C (p.Lys371Asn) single nucleotide variant not provided [RCV005202397] Chr1:241502566 [GRCh38]
Chr1:241665866 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1290T>G (p.Phe430Leu) single nucleotide variant not provided [RCV005127550] Chr1:241500537 [GRCh38]
Chr1:241663837 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.203A>C (p.Tyr68Ser) single nucleotide variant not provided [RCV005202414] Chr1:241517246 [GRCh38]
Chr1:241680546 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.298A>G (p.Lys100Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005336087]|not provided [RCV005127542] Chr1:241513683 [GRCh38]
Chr1:241676983 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1382C>G (p.Pro461Arg) single nucleotide variant not provided [RCV005129849] Chr1:241500445 [GRCh38]
Chr1:241663745 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.131T>C (p.Met44Thr) single nucleotide variant not provided [RCV005129942] Chr1:241519592 [GRCh38]
Chr1:241682892 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.268-12G>C single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005249821]|not provided [RCV005185343] Chr1:241513725 [GRCh38]
Chr1:241677025 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1210G>A (p.Glu404Lys) single nucleotide variant not provided [RCV005125387] Chr1:241502469 [GRCh38]
Chr1:241665769 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.369A>G (p.Ala123=) single nucleotide variant not provided [RCV005198948] Chr1:241513612 [GRCh38]
Chr1:241676912 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1088C>T (p.Pro363Leu) single nucleotide variant not provided [RCV005124367] Chr1:241504062 [GRCh38]
Chr1:241667362 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.316G>A (p.Val106Ile) single nucleotide variant not provided [RCV005149009] Chr1:241513665 [GRCh38]
Chr1:241676965 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.182del (p.Lys61fs) deletion not provided [RCV005205075] Chr1:241517267 [GRCh38]
Chr1:241680567 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.378+12T>A single nucleotide variant not provided [RCV005197218] Chr1:241513591 [GRCh38]
Chr1:241676891 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.913T>C (p.Phe305Leu) single nucleotide variant not provided [RCV005152443] Chr1:241504237 [GRCh38]
Chr1:241667537 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.197dup (p.Tyr67fs) duplication Hereditary cancer-predisposing syndrome [RCV005344466] Chr1:241517251..241517252 [GRCh38]
Chr1:241680551..241680552 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.527A>C (p.His176Pro) single nucleotide variant Fumarase deficiency [RCV005400345] Chr1:241511995 [GRCh38]
Chr1:241675295 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1047T>C (p.Pro349=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005344477] Chr1:241504103 [GRCh38]
Chr1:241667403 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1381C>T (p.Pro461Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005344461] Chr1:241500446 [GRCh38]
Chr1:241663746 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.215_216del (p.Thr72fs) deletion Hereditary cancer-predisposing syndrome [RCV005344465] Chr1:241517233..241517234 [GRCh38]
Chr1:241680533..241680534 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1107A>G (p.Pro369=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005344468] Chr1:241504043 [GRCh38]
Chr1:241667343 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.948T>C (p.Ala316=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005344472] Chr1:241504202 [GRCh38]
Chr1:241667502 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1388T>C (p.Ile463Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005344473] Chr1:241500439 [GRCh38]
Chr1:241663739 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.461A>G (p.Asn154Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005344476] Chr1:241512061 [GRCh38]
Chr1:241675361 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1076C>T (p.Pro359Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005344467] Chr1:241504074 [GRCh38]
Chr1:241667374 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.651T>A (p.Ala217=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005344471] Chr1:241508690 [GRCh38]
Chr1:241671990 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.915_917delinsGG (p.Phe305fs) indel Hereditary leiomyomatosis and renal cell cancer [RCV005360475] Chr1:241504233..241504235 [GRCh38]
Chr1:241667533..241667535 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1533A>T (p.Ter511Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005344463] Chr1:241497828 [GRCh38]
Chr1:241661128 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.739-1G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005344470] Chr1:241506169 [GRCh38]
Chr1:241669469 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.506T>G (p.Leu169Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005344475] Chr1:241512016 [GRCh38]
Chr1:241675316 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-50TC[32] microsatellite Hereditary leiomyomatosis and renal cell cancer [RCV005360474] Chr1:241500602..241500603 [GRCh38]
Chr1:241663902..241663903 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.161A>T (p.Tyr54Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005327887] Chr1:241517288 [GRCh38]
Chr1:241680588 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.70dup (p.Ser24fs) duplication Hereditary cancer-predisposing syndrome [RCV005327885] Chr1:241519652..241519653 [GRCh38]
Chr1:241682952..241682953 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1251A>T (p.Leu417Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005327886] Chr1:241500576 [GRCh38]
Chr1:241663876 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1237-18_1237-17insTCTC insertion Hereditary cancer-predisposing syndrome [RCV005426981] Chr1:241500607..241500608 [GRCh38]
Chr1:241663907..241663908 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1237-16_1237-15insTC insertion Hereditary cancer-predisposing syndrome [RCV005426980] Chr1:241500605..241500606 [GRCh38]
Chr1:241663905..241663906 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.675_676del (p.Ala226fs) deletion Hereditary leiomyomatosis and renal cell cancer [RCV005427761] Chr1:241508665..241508666 [GRCh38]
Chr1:241671965..241671966 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1237-24_1237-23insTCTCTCTCTC insertion Hereditary cancer-predisposing syndrome [RCV005426986] Chr1:241500613..241500614 [GRCh38]
Chr1:241663913..241663914 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.1512G>T (p.Lys504Asn) single nucleotide variant not provided [RCV005428721] Chr1:241497849 [GRCh38]
Chr1:241661149 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1274A>G (p.Asp425Gly) single nucleotide variant not specified [RCV005417895] Chr1:241500553 [GRCh38]
Chr1:241663853 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.463G>T (p.Glu155Ter) single nucleotide variant Hereditary leiomyomatosis and renal cell cancer [RCV005421663] Chr1:241512059 [GRCh38]
Chr1:241675359 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1237-20_1237-19insTCTCTC insertion Hereditary cancer-predisposing syndrome [RCV005426983] Chr1:241500609..241500610 [GRCh38]
Chr1:241663909..241663910 [GRCh37]
Chr1:1q43		 benign
NM_000143.4(FH):c.593del (p.Ala198fs) deletion Fumarase deficiency [RCV005020393] Chr1:241508748 [GRCh38]
Chr1:241672048 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000143.4(FH):c.393A>G (p.Lys131=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339133]|not provided [RCV003708775] Chr1:241512129 [GRCh38]
Chr1:241675429 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.576C>T (p.Pro192=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339136]|not provided [RCV005104020] Chr1:241508765 [GRCh38]
Chr1:241672065 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.415G>T (p.Val139Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341988] Chr1:241512107 [GRCh38]
Chr1:241675407 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.678A>C (p.Ala226=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341991] Chr1:241508663 [GRCh38]
Chr1:241671963 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.409C>G (p.Pro137Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341992] Chr1:241512113 [GRCh38]
Chr1:241675413 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.89G>A (p.Gly30Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341994]|not provided [RCV003708776] Chr1:241519634 [GRCh38]
Chr1:241682934 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1425A>G (p.Ala475=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341990]|Hereditary leiomyomatosis and renal cell cancer [RCV005249506]|not provided [RCV003720853] Chr1:241497936 [GRCh38]
Chr1:241661236 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.402T>G (p.Asp134Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341993] Chr1:241512120 [GRCh38]
Chr1:241675420 [GRCh37]
Chr1:1q43		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:201
Count of miRNA genes:180
Interacting mature miRNAs:191
Transcripts:ENST00000366560, ENST00000493477, ENST00000497042
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH39631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371342,830,426 - 42,830,618UniSTSGRCh37
Build 361341,728,426 - 41,728,618RGDNCBI36
Celera1323,887,833 - 23,888,025RGD
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map1q42.1UniSTS
GeneMap99-GB4 RH Map13147.66UniSTS
SHGC-107202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,663,062 - 241,663,401UniSTSGRCh37
Build 361239,729,685 - 239,730,024RGDNCBI36
Celera1214,918,059 - 214,918,398RGD
Cytogenetic Map1q42.1UniSTS
HuRef1212,121,310 - 212,121,649UniSTS
TNG Radiation Hybrid Map1122144.0UniSTS
RH64485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,660,969 - 241,661,038UniSTSGRCh37
Build 361239,727,592 - 239,727,661RGDNCBI36
Celera1214,915,966 - 214,916,035RGD
Cytogenetic Map1q42.1UniSTS
HuRef1212,119,231 - 212,119,300UniSTS
GeneMap99-GB4 RH Map1752.13UniSTS
NCBI RH Map11969.9UniSTS
AFM214xe11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,676,167 - 241,676,352UniSTSGRCh37
Build 361239,742,790 - 239,742,975RGDNCBI36
Celera1214,931,173 - 214,931,358RGD
Cytogenetic Map1q42.1UniSTS
HuRef1212,134,421 - 212,134,604UniSTS
Whitehead-RH Map1922.8UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11966.7UniSTS
FH_8350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,660,736 - 241,661,258UniSTSGRCh37
Build 361239,727,359 - 239,727,881RGDNCBI36
Celera1214,915,733 - 214,916,255RGD
HuRef1212,118,998 - 212,119,520UniSTS
D1S258E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,660,959 - 241,661,190UniSTSGRCh37
Build 361239,727,582 - 239,727,813RGDNCBI36
Celera1214,915,956 - 214,916,187RGD
Cytogenetic Map1q42.1UniSTS
HuRef1212,119,221 - 212,119,452UniSTS
TNG Radiation Hybrid Map1122150.0UniSTS
GeneMap99-G3 RH Map19349.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA669797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW611924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY299638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA129148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO393423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U48857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U59309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000366560   ⟹   ENSP00000355518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,497,603 - 241,519,755 (-)Ensembl
Ensembl Acc Id: ENST00000493477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,497,511 - 241,519,694 (-)Ensembl
Ensembl Acc Id: ENST00000497042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,511,867 - 241,513,676 (-)Ensembl
Ensembl Acc Id: ENST00000682162   ⟹   ENSP00000508203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,497,588 - 241,519,722 (-)Ensembl
Ensembl Acc Id: ENST00000682567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,497,639 - 241,519,799 (-)Ensembl
Ensembl Acc Id: ENST00000683521   ⟹   ENSP00000506864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,498,738 - 241,519,799 (-)Ensembl
Ensembl Acc Id: ENST00000684161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,497,581 - 241,510,555 (-)Ensembl
Ensembl Acc Id: ENST00000684483   ⟹   ENSP00000507894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,497,581 - 241,519,785 (-)Ensembl
RefSeq Acc Id: NM_000143   ⟹   NP_000134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,497,603 - 241,519,755 (-)NCBI
GRCh371241,660,857 - 241,683,085 (-)ENTREZGENE
Build 361239,727,526 - 239,749,677 (-)NCBI Archive
HuRef1212,119,119 - 212,141,338 (-)ENTREZGENE
CHM1_11242,933,564 - 242,955,781 (-)NCBI
T2T-CHM13v2.01240,909,033 - 240,931,170 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000134   ⟸   NM_000143
- UniProtKB: B1ANK7 (UniProtKB/Swiss-Prot),   P07954 (UniProtKB/Swiss-Prot),   A0A0S2Z4C3 (UniProtKB/TrEMBL),   A0A804HI24 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000355518   ⟸   ENST00000366560
Ensembl Acc Id: ENSP00000506864   ⟸   ENST00000683521
Ensembl Acc Id: ENSP00000508203   ⟸   ENST00000682162
Ensembl Acc Id: ENSP00000507894   ⟸   ENST00000684483
Protein Domains
Fumarase C C-terminal   Fumarate lyase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07954-F1-model_v2 AlphaFold P07954 1-510 view protein structure

Promoters
RGD ID:6785589
Promoter ID:HG_KWN:8057
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366560
Position:
Human AssemblyChrPosition (strand)Source
Build 361239,749,414 - 239,749,914 (-)MPROMDB
RGD ID:6852102
Promoter ID:EP73857
Type:initiation region
Name:HS_FH
Description:Fumarate hydratase , nuclear gene encoding mitochondrial protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361239,749,672 - 239,749,732EPD
RGD ID:6859394
Promoter ID:EPDNEW_H2862
Type:initiation region
Name:FH_1
Description:fumarate hydratase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,519,755 - 241,519,815EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3700 AgrOrtholog
COSMIC FH COSMIC
Ensembl Genes ENSG00000091483 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366560 ENTREZGENE
  ENST00000366560.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.275.10 UniProtKB/Swiss-Prot
  Fumarase/aspartase (C-terminal domain) UniProtKB/Swiss-Prot
  Fumarase/aspartase (Central domain) UniProtKB/Swiss-Prot
GTEx ENSG00000091483 GTEx
HGNC ID HGNC:3700 ENTREZGENE
Human Proteome Map FH Human Proteome Map
InterPro Fum_hydII UniProtKB/Swiss-Prot
  Fumarase/histidase_N UniProtKB/Swiss-Prot
  Fumarase_C_C UniProtKB/Swiss-Prot
  Fumarate_lyase_CS UniProtKB/Swiss-Prot
  Fumarate_lyase_fam UniProtKB/Swiss-Prot
  Fumarate_lyase_N UniProtKB/Swiss-Prot
  L-Aspartase-like UniProtKB/Swiss-Prot
KEGG Report hsa:2271 UniProtKB/Swiss-Prot
NCBI Gene 2271 ENTREZGENE
OMIM 136850 OMIM
PANTHER FUMARATE HYDRATASE, MITOCHONDRIAL UniProtKB/Swiss-Prot
  PTHR11444 UniProtKB/Swiss-Prot
Pfam FumaraseC_C UniProtKB/Swiss-Prot
  Lyase_1 UniProtKB/Swiss-Prot
PharmGKB PA28139 PharmGKB
PRINTS FUMRATELYASE UniProtKB/Swiss-Prot
PROSITE FUMARATE_LYASES UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48557 UniProtKB/Swiss-Prot
UniProt A0A0S2Z3S9_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3W2_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3X6_HUMAN UniProtKB/TrEMBL
  A0A0S2Z408_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4C3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4H0_HUMAN UniProtKB/TrEMBL
  A0A804HI24 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKE6_HUMAN UniProtKB/TrEMBL
  A0A804HL52_HUMAN UniProtKB/TrEMBL
  B1ANK7 ENTREZGENE
  FUMH_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q7Z6G0_HUMAN UniProtKB/TrEMBL
UniProt Secondary B1ANK7 UniProtKB/Swiss-Prot