Total 178 pathogenic variants reported for Fumarase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000143.4(FH):c.793G>A (p.Ala265Thr) SNV
Germline
Chr1:241506114 Pathogenic Fumarase deficiency No Assertion Criteria Provided
CA257450 rs_387906545

1 SubmittersRCV000017617

NM_000143.4(FH):c.1084G>C (p.Glu362Gln) SNV
Germline
Chr1:241504066 Likely pathogenic Fumarase deficiency
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA257453 rs_121913119

2 SubmittersRCV000017618RCV002426509

NM_000143.4(FH):c.301C>T (p.Arg101Ter) SNV
Germline
Chr1:241513680 Pathogenic Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA167288 rs_121913120

15 SubmittersRCV000017619RCV000130873RCV000199330RCV000515176

NM_000143.4(FH):c.1027C>T (p.Arg343Ter) SNV
Germline
Chr1:241504123 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA167294 rs_121913122

10 SubmittersRCV000197989RCV000130875RCV000017622RCV005007862RCV003466863

NM_000143.4(FH):c.698G>A (p.Arg233His) SNV
Germline
Chr1:241508643 Pathogenic Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome
See cases
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Spinocerebellar ataxia 45
Criteria Provided
Multiple Submitters
No Conflicts
CA257459 rs_121913123

23 SubmittersRCV000017623RCV000196988RCV000178717RCV000493379RCV003128387RCV003330393RCV004541007

NM_000143.4(FH):c.521C>G (p.Pro174Arg) SNV
Germline
Chr1:241512001 Pathogenic/Likely pathogenic Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
FH-related disorder
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA220381 rs_199822819

19 SubmittersRCV000022554RCV000078149RCV000492836RCV003335052RCV003483435

NM_000143.4(FH):c.346A>T (p.Ile116Phe) SNV
Germline
Chr1:241513635 Conflicting classifications of pathogenicity Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
FH-related disorder
Criteria Provided
Conflicting Classifications
CA215560 rs_201532589

11 SubmittersRCV000034484RCV000463959RCV000575301RCV001101031RCV004734539

NM_000143.4(FH):c.883G>A (p.Ala295Thr) SNV
Germline
Chr1:241506024 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA159740 rs_145843819

10 SubmittersRCV000121091RCV000034485RCV000166620RCV000687788RCV004786292

NM_000143.4(FH):c.908T>C (p.Leu303Ser) SNV
Germline
Chr1:241504242 Conflicting classifications of pathogenicity Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA215563 rs_201502246

8 SubmittersRCV000034486RCV000471678RCV000568576RCV004767031

NM_000143.4(FH):c.1421C>G (p.Thr474Arg) SNV
Germline
Chr1:241497940 Conflicting classifications of pathogenicity Condition: not provided
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
FH-related disorder
Criteria Provided
Conflicting Classifications
CA215566 rs_369802820

9 SubmittersRCV000034487RCV000332300RCV000381370RCV001011508RCV004555533

NM_000143.4(FH):c.1127A>C (p.Gln376Pro) SNV
Germline
Chr1:241502552 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Hepatocellular carcinoma
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA189211 rs_200796606

12 SubmittersRCV000034920RCV000163798RCV000199873RCV002280864RCV004595492

NM_000143.4(FH):c.1020T>A (p.Asn340Lys) SNV
Germline
Chr1:241504130 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
FH-related disorder
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA285319 rs_398123159

11 SubmittersRCV000078140RCV000220396RCV000445596RCV003460741RCV004555535RCV005007992

NM_000143.4(FH):c.1255T>C (p.Ser419Pro) SNV
Germline
Chr1:241500572 Pathogenic/Likely pathogenic Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
FH-related disorder
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA285322 rs_200004220

9 SubmittersRCV000078144RCV000445624RCV000492881RCV004555536RCV005394337

NM_000143.4(FH):c.320A>C (p.Asn107Thr) SNV
Germline
Chr1:241513661 Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA257456 rs_121913121

12 SubmittersRCV000017620RCV000078148RCV000493777RCV005016360RCV005237520

NM_000143.4(FH):c.952C>T (p.His318Tyr) SNV
Germline
Chr1:241504198 Pathogenic/Likely pathogenic Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA285329 rs_398123168

13 SubmittersRCV000078152RCV000445608RCV000762893RCV002371923RCV003460742

NM_000143.4(FH):c.1013T>C (p.Ile338Thr) SNV
Germline
Chr1:241504137 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
Criteria Provided
Conflicting Classifications
CA159743 rs_201975537

6 SubmittersRCV000121092RCV000575122RCV001061733RCV005394417RCV001558721

NM_000143.4(FH):c.1138A>G (p.Met380Val) SNV
Germline
Chr1:241502541 Conflicting classifications of pathogenicity not specified
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA159746 rs_587778362

4 SubmittersRCV000121093RCV000554866RCV000567053RCV002514641

NM_000143.4(FH):c.1303G>A (p.Val435Met) SNV
Germline
Chr1:241500524 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
FH-related disorder
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA159749 rs_147528200

11 SubmittersRCV000121094RCV000571469RCV001564388RCV000473170RCV004555537RCV003325184RCV005016418

NM_000143.4(FH):c.697C>T (p.Arg233Cys) SNV
Germline
Chr1:241508644 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA165194 rs_587781682

11 SubmittersRCV000129845RCV000153237RCV000549060RCV005620906

NM_000143.4(FH):c.208G>A (p.Ala70Thr) SNV
Germline
Chr1:241517241 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Ovarian cancer
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA167291 rs_587782207

10 SubmittersRCV000200494RCV000130874RCV000462728RCV003153423RCV004786393

NM_000143.4(FH):c.580G>A (p.Ala194Thr) SNV
Germline
Chr1:241508761 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fumarase deficiency
Condition: not provided
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
not specified
FH-related disorder
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA167337 rs_587782215

13 SubmittersRCV000130897RCV000477037RCV001547779RCV000765096RCV001731390RCV004555538RCV005246668

NM_000143.4(FH):c.557G>A (p.Ser186Asn) SNV
Germline
Chr1:241508784 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA169030 rs_587782618

5 SubmittersRCV000131997RCV001029752RCV002514749RCV004567146

NM_000143.4(FH):c.700A>G (p.Thr234Ala) SNV
Germline
Chr1:241508641 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA189288 rs_372505976

6 SubmittersRCV000163828RCV000195694RCV003316008RCV002498811RCV003467282

NM_000143.4(FH):c.358A>G (p.Ile120Val) SNV
Germline
Chr1:241513623 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA197225 rs_199641124

9 SubmittersRCV000166997RCV000469505RCV001101030RCV002516512RCV003320130

NM_000143.4(FH):c.305C>T (p.Ala102Val) SNV
Germline
Chr1:241513676 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
FH-related disorder
Criteria Provided
Conflicting Classifications
CA192361 rs_61753295

7 SubmittersRCV000165037RCV000349307RCV000388495RCV001582651RCV004734761

NM_000143.4(FH):c.217G>A (p.Val73Met) SNV
Germline
Chr1:241517232 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fumarase deficiency
Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
not specified
FH-related disorder
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA187930 rs_201878591

11 SubmittersRCV000163293RCV000467508RCV001532106RCV002291575RCV004596082RCV004555540RCV005016486

NM_000143.4(FH):c.122C>T (p.Ala41Val) SNV
Germline
Chr1:241519601 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fumarase deficiency
Condition: not provided
FH-related disorder
Hereditary leiomyomatosis and renal cell cancer
not specified
Criteria Provided
Conflicting Classifications
CA189176 rs_201486221

9 SubmittersRCV000163787RCV000342312RCV000837956RCV004555541RCV000394167RCV002267906

NM_000143.4(FH):c.63C>T (p.Ala21=) SNV
Germline
Chr1:241519660 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
FH-related disorder
Criteria Provided
Conflicting Classifications
CA196927 rs_555404867

6 SubmittersRCV000166876RCV000370510RCV000270051RCV001706088RCV004734762

NM_000143.4(FH):c.905-1G>A SNV
Germline
Chr1:241504246 Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA347392 rs_797044973

6 SubmittersRCV000193655RCV000493531RCV001534141RCV000804152

NM_000143.4(FH):c.1391-1G>C SNV
Germline
Chr1:241497971 Pathogenic Condition: not provided
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA320963 rs_863223978

3 SubmittersRCV000196540RCV004567400

NM_000143.4(FH):c.1391-2A>T SNV
Germline
Chr1:241497972 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA323468 rs_863224008

4 SubmittersRCV000198930RCV000494502RCV004567403

NM_000143.4(FH):c.1189G>A (p.Gly397Arg) SNV
Germline
Chr1:241502490 Pathogenic/Likely pathogenic Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA325330 rs_863224007

15 SubmittersRCV000200752RCV000445595RCV005008131RCV000465210RCV002336534

NM_000143.4(FH):c.1097G>A (p.Ser366Asn) SNV
Germline
Chr1:241504053 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA325181 rs_863224004

8 SubmittersRCV000200592RCV001017278RCV002291591RCV004567402

NM_000143.4(FH):c.1048C>T (p.Arg350Trp) SNV
Germline
Chr1:241504102 Conflicting classifications of pathogenicity Condition: not provided
Fumarase deficiency
not specified
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA323206 rs_755436052

11 SubmittersRCV000198662RCV000696839RCV002465557RCV003165454RCV005396585

NM_000143.4(FH):c.904+1G>A SNV
Germline
Chr1:241506002 Pathogenic/Likely pathogenic Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA320227 rs_1553341148

4 SubmittersRCV002503771RCV002517214RCV002372178RCV003316091

NM_000143.4(FH):c.817G>A (p.Ala273Thr) SNV
Germline
Chr1:241506090 Conflicting classifications of pathogenicity Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA325227 rs_772190176

6 SubmittersRCV000200636RCV000467363RCV000572182RCV005429229

NM_000143.4(FH):c.194A>G (p.Asp65Gly) SNV
Germline
Chr1:241517255 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA321905 rs_145116688

7 SubmittersRCV000197441RCV001013787RCV000456662RCV005016554

NM_000143.4(FH):c.7C>T (p.Arg3Ter) SNV
Germline
Chr1:241519716 Conflicting classifications of pathogenicity Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA321335 rs_202166344

4 SubmittersRCV000196918RCV003468886RCV002415845

NM_000143.4(FH):c.7C>G (p.Arg3Gly) SNV
Germline
Chr1:241519716 Conflicting classifications of pathogenicity Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Fumarase deficiency
not specified
FH-related disorder
Criteria Provided
Conflicting Classifications
CA319970 rs_202166344

13 SubmittersRCV000195609RCV000346414RCV000568788RCV000204400RCV001818470RCV004734852

NM_000143.4(FH):c.-11C>T SNV
Germline
Chr1:241519733 Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA324080 rs_200942733

7 SubmittersRCV000261877RCV000368306RCV000199536RCV001529842

NM_000143.4(FH):c.1482A>G (p.Ala494=) SNV
Germline
Chr1:241497879 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
not specified
FH-related disorder
Criteria Provided
Conflicting Classifications
CA1478427 rs_201559643

8 SubmittersRCV000228601RCV001011810RCV001097100RCV001589167RCV002267976RCV004555546

NM_000143.4(FH):c.1462G>A (p.Glu488Lys) SNV
Germline
Chr1:241497899 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA1478433 rs_201115573

5 SubmittersRCV000570137RCV001001725RCV001550243RCV003469130

NM_000143.4(FH):c.926C>T (p.Pro309Leu) SNV
Germline
Chr1:241504224 Conflicting classifications of pathogenicity Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478570 rs_756528378

5 SubmittersRCV000230405RCV001589168RCV002372248RCV002487046

NM_000143.4(FH):c.1A>G (p.Met1Val) SNV
Germline
Chr1:241519722 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA10581788 rs_776806414

5 SubmittersRCV000498198RCV002417984RCV005008182

NM_000143.4(FH):c.1390+1G>T SNV
Germline
Chr1:241500436 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA10588288 rs_886039367

6 SubmittersRCV000255853RCV001011336RCV001251427RCV003454775

NM_000143.4(FH):c.214A>C (p.Thr72Pro) SNV
Germline
Chr1:241517235 Likely pathogenic Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10588293 rs_886039362

4 SubmittersRCV000254803RCV001062945RCV002429193

NM_000143.3(FH):c.*266A>G SNV
Germline
Chr1:241497562 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA10609655 rs_113667027

1 SubmittersRCV000343612RCV000400259

NM_000143.4(FH):c.905-5T>A SNV
Germline
Chr1:241504250 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10609674 rs_886046318

2 SubmittersRCV000311306RCV000398468RCV003698757

NM_000143.4(FH):c.1A>C (p.Met1Leu) SNV
Germline
Chr1:241519722 Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA10609675 rs_776806414

6 SubmittersRCV000307949RCV000369616RCV002418146RCV002522126RCV005008276

NM_000143.4(FH):c.1443C>G (p.Thr481=) SNV
Germline
Chr1:241497918 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1478436 rs_780200136

4 SubmittersRCV000326720RCV000366211RCV001011606RCV003103755

NM_000143.4(FH):c.1237-12A>T SNV
Germline
Chr1:241500602 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
not specified
FH-related disorder
Criteria Provided
Conflicting Classifications
CA10609921 rs_74405673

4 SubmittersRCV000270742RCV000325826RCV001711881RCV003320627RCV004734952

NM_000143.4(FH):c.*102T>C SNV
Germline
Chr1:241497726 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA10610740 rs_200093224

1 SubmittersRCV000297371RCV000355546

NM_000143.4(FH):c.379-15A>T SNV
Germline
Chr1:241512158 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1478691 rs_374529177

6 SubmittersRCV000321597RCV000360971RCV000436971RCV002522125

NM_000143.4(FH):c.33G>C (p.Ser11=) SNV
Germline
Chr1:241519690 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
FH-related disorder
Criteria Provided
Conflicting Classifications
CA1478783 rs_200542051

10 SubmittersRCV000315971RCV000372989RCV000564759RCV001706443RCV002268018RCV004555551

NM_000143.4(FH):c.12A>G (p.Ala4=) SNV
Germline
Chr1:241519711 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10610829 rs_201277370

6 SubmittersRCV000285539RCV000342804RCV000564813RCV001711883

NM_000143.4(FH):c.923C>G (p.Ala308Gly) SNV
Germline
Chr1:241504227 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA16603595 rs_1057524385

6 SubmittersRCV000430394RCV001019060RCV004567924

NM_000143.4(FH):c.431G>T (p.Gly144Val) SNV
Germline
Chr1:241512091 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA16603598 rs_1057521425

5 SubmittersRCV000438718RCV003338588RCV005600908RCV005398535

NM_000143.4(FH):c.820G>C (p.Ala274Pro) SNV
Germline
Chr1:241506087 Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA16609367 rs_1060499638

2 SubmittersRCV000445594RCV004567929

NM_000143.4(FH):c.655G>A (p.Asp219Asn) SNV
Germline
Chr1:241508686 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA1478641 rs_11545656

7 SubmittersRCV000472774RCV001098958RCV001025411RCV002523294RCV003320643

NM_000143.4(FH):c.556-4A>G SNV
Germline
Chr1:241508789 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478652 rs_370229813

8 SubmittersRCV000475091RCV001024280RCV001569283RCV002268072RCV002489019RCV005247027

NM_000143.4(FH):c.302G>A (p.Arg101Gln) SNV
Germline
Chr1:241513679 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478716 rs_75086406

7 SubmittersRCV000466487RCV001018184RCV001546164RCV003320644RCV004787712

NM_000143.4(FH):c.259C>T (p.Arg87Cys) SNV
Germline
Chr1:241517190 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478738 rs_139642944

7 SubmittersRCV000467729RCV000568361RCV001530785RCV004787713

NM_000143.4(FH):c.925C>T (p.Pro309Ser) SNV
Germline
Chr1:241504225 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA1478571 rs_368849989

4 SubmittersRCV000571863RCV001591074RCV004567964

NM_000143.4(FH):c.738+2T>C SNV
Germline
Chr1:241508601 Pathogenic/Likely pathogenic Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16610056 rs_1060500901

4 SubmittersRCV000458630RCV001577061RCV003278809

NM_000143.4(FH):c.1433A>G (p.Asn478Ser) SNV
Germline
Chr1:241497928 Conflicting classifications of pathogenicity Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1478439 rs_201886827

5 SubmittersRCV000462215RCV003103776RCV002393092

NM_000143.4(FH):c.1109-7C>T SNV
Germline
Chr1:241502577 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16610073 rs_1060504079

3 SubmittersRCV000476829RCV001100670RCV002525650

NM_000143.4(FH):c.1445T>G (p.Leu482Ter) SNV
Germline
Chr1:241497916 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA16617112 rs_1064796708

5 SubmittersRCV000485484RCV003168979RCV003464036RCV005600952

NM_000143.4(FH):c.268-2A>G SNV
Germline
Chr1:241513715 Conflicting classifications of pathogenicity Condition: not provided
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16617119 rs_1064793741

5 SubmittersRCV000487137RCV001390078RCV003449186RCV003168943

NM_000143.4(FH):c.702T>G (p.Thr234=) SNV
Germline
Chr1:241508639 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA1478629 rs_201083387

7 SubmittersRCV000827769RCV000494047RCV005248074RCV001083333RCV005230969

NM_000143.4(FH):c.689A>G (p.Lys230Arg) SNV
Germline
Chr1:241508652 Pathogenic Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA1478630 rs_752232718

4 SubmittersRCV001782983RCV003464063RCV000494410

NM_000143.4(FH):c.555+5G>C SNV
Germline
Chr1:241511962 Likely pathogenic Condition: not provided
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA645372523 rs_1553341582

3 SubmittersRCV000498964RCV005018836

NM_000143.4(FH):c.527A>G (p.His176Arg) SNV
Germline
Chr1:241511995 Conflicting classifications of pathogenicity Condition: not provided
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA345439904 rs_1158759883

2 SubmittersRCV000498190RCV001196074

NM_000143.4(FH):c.555+1G>A SNV
Germline
Chr1:241511966 Pathogenic/Likely pathogenic Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA345439814 rs_1375252870

4 SubmittersRCV000522660RCV003464109RCV005338213

NM_000143.4(FH):c.809A>G (p.Tyr270Cys) SNV
Germline
Chr1:241506098 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478602 rs_202060616

5 SubmittersRCV000525718RCV000573963RCV001551931RCV005248183

NM_000143.4(FH):c.1408A>G (p.Lys470Glu) SNV
Germline
Chr1:241497953 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
Criteria Provided
Conflicting Classifications
CA40371763 rs_922905323

6 SubmittersRCV000550902RCV001011420RCV002254703RCV002527721

NM_000143.4(FH):c.911C>G (p.Pro304Arg) SNV
Germline
Chr1:241504239 Conflicting classifications of pathogenicity Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478574 rs_200491078

6 SubmittersRCV000525503RCV001545353RCV002377041RCV004787853

NM_000143.4(FH):c.514A>G (p.Lys172Glu) SNV
Germline
Chr1:241512008 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA40331857 rs_201154463

4 SubmittersRCV000548223RCV002341290RCV002528329

NM_000143.4(FH):c.4T>C (p.Tyr2His) SNV
Germline
Chr1:241519719 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency
FH-related disorder
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478785 rs_112335468

7 SubmittersRCV001662540RCV001023401RCV003459206RCV004555584RCV004787852

NM_000143.4(FH):c.583A>G (p.Met195Val) SNV
Germline
Chr1:241508758 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA345439454 rs_1553341364

4 SubmittersRCV002358480RCV002527733RCV004800449

NM_000143.4(FH):c.193G>A (p.Asp65Asn) SNV
Germline
Chr1:241517256 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478750 rs_769956664

6 SubmittersRCV000549382RCV002413481RCV002528326RCV004787851RCV005018919

NM_000143.4(FH):c.6C>G (p.Tyr2Ter) SNV
Germline
Chr1:241519717 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA40338139 rs_199971078

4 SubmittersRCV000572622RCV002461294RCV004568765

NM_000143.4(FH):c.1049G>A (p.Arg350Gln) SNV
Germline
Chr1:241504101 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fumarase deficiency
Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478555 rs_749316923

10 SubmittersRCV000567804RCV000635318RCV000994324RCV005010548RCV005248293

NM_000143.4(FH):c.648T>A (p.Asp216Glu) SNV
Germline
Chr1:241508693 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fumarase deficiency
Condition: not provided
not specified
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478642 rs_199536615

10 SubmittersRCV000564564RCV000705539RCV001529212RCV001821687RCV005248291

NM_000143.4(FH):c.222A>T (p.Arg74Ser) SNV
Germline
Chr1:241517227 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fumarase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1478746 rs_146739519

5 SubmittersRCV000571616RCV000635311RCV002528980

NM_000143.4(FH):c.98T>G (p.Val33Gly) SNV
Germline
Chr1:241519625 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fumarase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA345442710 rs_1319755767

4 SubmittersRCV000562224RCV001046087RCV002509451

NM_000143.4(FH):c.26C>G (p.Ala9Gly) SNV
Germline
Chr1:241519697 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fumarase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA40338096 rs_766915154

5 SubmittersRCV000562796RCV000635299RCV001764682

NM_000143.4(FH):c.1130G>A (p.Cys377Tyr) SNV
Germline
Chr1:241502549 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA345437584 rs_1553340880

2 SubmittersRCV000635286RCV004619358

NM_000143.4(FH):c.40C>T (p.Leu14Phe) SNV
Germline
Chr1:241519683 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA40338036 rs_981562354

4 SubmittersRCV000635308RCV002325224RCV002509481

NM_000143.4(FH):c.5A>G (p.Tyr2Cys) SNV
Germline
Chr1:241519718 Conflicting classifications of pathogenicity Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA345443111 rs_1553342167

3 SubmittersRCV002529839RCV003459516RCV002358784

NM_000143.4(FH):c.1390+2T>C SNV
Germline
Chr1:241500435 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA345436256 rs_1558396285

4 SubmittersRCV002388323RCV002533667RCV003456135RCV003465624

NM_000143.4(FH):c.1330A>G (p.Arg444Gly) SNV
Germline
Chr1:241500497 Conflicting classifications of pathogenicity Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA345436556 rs_749266351

3 SubmittersRCV000695735RCV002532321RCV004619392

NM_000143.4(FH):c.555+4A>G SNV
Germline
Chr1:241511963 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA1478666 rs_776240700

6 SubmittersRCV000692469RCV001024262RCV001771957RCV002268252

NM_000143.4(FH):c.65T>A (p.Leu22Ter) SNV
Germline
Chr1:241519658 Conflicting classifications of pathogenicity Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA40338008 rs_1031919395

4 SubmittersRCV001771965RCV003460938RCV003163189

NM_000143.4(FH):c.35G>T (p.Arg12Leu) SNV
Germline
Chr1:241519688 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1478782 rs_367826177

7 SubmittersRCV000700942RCV001020691RCV001771986

NM_000143.4(FH):c.1204C>T (p.His402Tyr) SNV
Germline
Chr1:241502475 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1478530 rs_760360724

5 SubmittersRCV000698203RCV002343499RCV002533514

NM_000143.4(FH):c.417G>A (p.Val139=) SNV
Germline
Chr1:241512105 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA1478682 rs_768341401

5 SubmittersRCV002332453RCV002532286RCV003460940

NM_000143.4(FH):c.1415C>T (p.Ala472Val) SNV
Germline
Chr1:241497946 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA40371759 rs_765643179

5 SubmittersRCV000819944RCV001011457RCV001772135

NM_000143.4(FH):c.853A>G (p.Thr285Ala) SNV
Germline
Chr1:241506054 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA40328147 rs_200791185

3 SubmittersRCV002442613RCV002535856RCV003467328

NM_000143.4(FH):c.578C>T (p.Thr193Ile) SNV
Germline
Chr1:241508763 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
Criteria Provided
Conflicting Classifications
CA345439461 rs_1573883332

2 SubmittersRCV002487693RCV002537132

NM_000143.4(FH):c.415G>A (p.Val139Met) SNV
Germline
Chr1:241512107 Conflicting classifications of pathogenicity Fumarase deficiency
Microcephaly
Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA1478683 rs_200343823

11 SubmittersRCV000810319RCV001252807RCV001585739RCV001100769RCV005392425RCV001021974RCV003153850

NM_000143.4(FH):c.327T>G (p.Asp109Glu) SNV
Germline
Chr1:241513654 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1478714 rs_757312078

4 SubmittersRCV000820876RCV002442754RCV002537480

NM_000143.4(FH):c.152G>C (p.Arg51Pro) SNV
Germline
Chr1:241517297 Likely pathogenic Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA345442006 rs_976734433

3 SubmittersRCV000797723RCV002537051RCV005562461

NM_000143.4(FH):c.151C>T (p.Arg51Trp) SNV
Germline
Chr1:241517298 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA1478759 rs_778678782

8 SubmittersRCV000804384RCV002256525RCV002465783RCV002537177RCV005021218

NM_000143.4(FH):c.127C>T (p.Arg43Ter) SNV
Germline
Chr1:241519596 Conflicting classifications of pathogenicity Condition: not provided
Fumarase deficiency
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA40337895 rs_200496951

6 SubmittersRCV001784418RCV003467368RCV005021203RCV005338359

NM_000143.4(FH):c.37C>A (p.Pro13Thr) SNV
Germline
Chr1:241519686 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA40338045 rs_587778360

5 SubmittersRCV000808009RCV002363079RCV002537277

NM_000143.4(FH):c.10G>A (p.Ala4Thr) SNV
Germline
Chr1:241519713 Conflicting classifications of pathogenicity Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA345443100 rs_1573890047

3 SubmittersRCV000804394RCV002534780RCV004028172

NM_000143.4(FH):c.1A>T (p.Met1Leu) SNV
Germline
Chr1:241519722 Conflicting classifications of pathogenicity Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1478787 rs_776806414

3 SubmittersRCV000794812RCV002535910RCV002422699

NM_000143.4(FH):c.739-2A>G SNV
Germline
Chr1:241506170 Pathogenic/Likely pathogenic Condition: not provided
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA345439134 rs_1553341174

4 SubmittersRCV002537332RCV002495120RCV001563611RCV005562474

NM_000143.4(FH):c.414C>T (p.Leu138=) SNV
Germline
Chr1:241512108 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478684 rs_540968725

5 SubmittersRCV000908521RCV001021952RCV002540777RCV005249293

NM_000143.4(FH):c.842C>T (p.Thr281Ile) SNV
Germline
Chr1:241506065 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA345438912 rs_1573881633

5 SubmittersRCV001017764RCV002549462RCV005394634RCV005621066

NM_000143.4(FH):c.574C>T (p.Pro192Ser) SNV
Germline
Chr1:241508767 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
Criteria Provided
Conflicting Classifications
CA345439470 rs_1573883345

3 SubmittersRCV001100768RCV001024482RCV001098959RCV002551893

NM_000143.4(FH):c.431G>A (p.Gly144Glu) SNV
Germline
Chr1:241512091 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA345440117 rs_1057521425

3 SubmittersRCV001022288RCV002549552RCV003461391

NM_000143.4(FH):c.260G>A (p.Arg87His) SNV
Germline
Chr1:241517189 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fumarase deficiency
Ovarian cancer
Condition: not provided
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478737 rs_200007371

6 SubmittersRCV001016095RCV001051373RCV003153886RCV002550814RCV004789337

NM_000143.4(FH):c.120C>G (p.Asn40Lys) SNV
Germline
Chr1:241519603 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fumarase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA40337913 rs_876658186

3 SubmittersRCV001010297RCV001037079RCV002549316

NM_000143.4(FH):c.65T>G (p.Leu22Ter) SNV
Germline
Chr1:241519658 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA40338006 rs_1031919395

4 SubmittersRCV001025446RCV002508277RCV003461407

NM_000143.4(FH):c.1169A>G (p.Asn390Ser) SNV
Germline
Chr1:241502510 Conflicting classifications of pathogenicity Fumarase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA345437446 rs_1178007598

3 SubmittersRCV001072142RCV003128750

NM_000143.3(FH):c.-57C>G SNV
Germline
Chr1:241519779 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA40338270 rs_201589544

2 SubmittersRCV001099128RCV001099129RCV002255620

NM_000143.4(FH):c.738+14A>G SNV
Germline
Chr1:241508589 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1478627 rs_765629644

2 SubmittersRCV001098957RCV001098956RCV002556011

NM_000143.4(FH):c.405T>G (p.His135Gln) SNV
Germline
Chr1:241512117 Conflicting classifications of pathogenicity Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA345440175 rs_1298815479

5 SubmittersRCV001209597RCV001751383RCV002322024

NM_000143.4(FH):c.473G>T (p.Ser158Ile) SNV
Germline
Chr1:241512049 Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA345440025 rs_1060500902

3 SubmittersRCV005236714RCV002563924RCV005394859

NM_000143.4(FH):c.378+1G>A SNV
Germline
Chr1:241513602 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA345440406 rs_1660143675

4 SubmittersRCV002366032RCV002563184RCV003469407RCV005253754

NM_000143.4(FH):c.601A>G (p.Ile201Val) SNV
Germline
Chr1:241508740 Conflicting classifications of pathogenicity Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA345439418 rs_1659997422

3 SubmittersRCV001326843RCV002546202RCV005340793

NM_000143.4(FH):c.1390+6T>A SNV
Germline
Chr1:241500431 Conflicting classifications of pathogenicity Fumarase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA530378938 rs_1338650106

3 SubmittersRCV001360945RCV002547761

NM_000143.4(FH):c.1390+5G>A SNV
Germline
Chr1:241500432 Conflicting classifications of pathogenicity Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA733679842 rs_1352808353

5 SubmittersRCV001373130RCV002548668RCV004619679

NM_000143.4(FH):c.203A>G (p.Tyr68Cys) SNV
Germline
Chr1:241517246 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency
Criteria Provided
Conflicting Classifications
CA345441840 rs_1472397242

4 SubmittersRCV001762647RCV002420831RCV001370748

NM_000143.4(FH):c.664T>C (p.Ser222Pro) SNV
Germline
Chr1:241508677 Likely pathogenic Fumarase deficiency Criteria Provided
Single Submitter
CA345439287 rs_1448268784

1 SubmittersRCV001775239

NM_000143.4(FH):c.1274A>T (p.Asp425Val) SNV
Germline
Chr1:241500553 Conflicting classifications of pathogenicity Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA345436809 rs_1038324354

3 SubmittersRCV003468196RCV005335777RCV005100167

NM_000143.4(FH):c.1358T>C (p.Leu453Pro) SNV
Germline
Chr1:241500469 Pathogenic/Likely pathogenic Fumarase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA345436410 rs_2147913041

2 SubmittersRCV004556087RCV001781104

NM_000143.4(FH):c.797T>C (p.Met266Thr) SNV
Germline
Chr1:241506110 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Ovarian cancer
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478603 rs_764648497

5 SubmittersRCV002423251RCV002545560RCV003471264RCV003154232RCV004785453

NM_000143.4(FH):c.1283T>C (p.Val428Ala) SNV
Germline
Chr1:241500544 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Criteria Provided
Conflicting Classifications
CA1478485 rs_201644919

6 SubmittersRCV003089018RCV005232905RCV005397334RCV002382459RCV004785522

NM_000143.4(FH):c.1391-1G>T SNV
Germline
Chr1:241497971 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Fumarase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA345451191 rs_863223978

2 SubmittersRCV002396686RCV003465720

NM_000143.4(FH):c.1483G>T (p.Glu495Ter) SNV
Unknown
Chr1:241497878 Likely pathogenic Fumarase deficiency Criteria Provided
Single Submitter
CA345450412 rs_2527308382

1 SubmittersRCV003468193

NM_000143.4(FH):c.32C>A (p.Ser11Ter) SNV
Unknown
Chr1:241519691 Likely pathogenic Fumarase deficiency Criteria Provided
Single Submitter
CA345443022 rs_1226883651

1 SubmittersRCV003461572

NM_000143.4(FH):c.738+1G>C SNV
Germline
Chr1:241508602 Pathogenic/Likely pathogenic Fumarase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA345439139 rs_1659988368

2 SubmittersRCV005254845RCV003569891

NM_000143.4(FH):c.904+2T>C SNV
Germline
Chr1:241506001 Likely pathogenic Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
No Assertion Criteria Provided

1 SubmittersRCV004776484