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 SubmittersRCV000017618 RCV002426509
NM_000143.4(FH):c.301C>T (p.Arg101Ter)	SNV Germline	Chr1:241513680	Pathogenic	Hereditary leiomyomatosis and renal cell cancer Condition: not provided Hereditary cancer-predisposing syndrome Fumarase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA167288	rs_121913120	13 SubmittersRCV000017619 RCV000199330 RCV000130873 RCV000515176
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)	SNV Germline	Chr1:241504123	Pathogenic	Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome Condition: not provided Fumarase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA167294	rs_121913122	9 SubmittersRCV000017622 RCV000130875 RCV000197989 RCV003466863
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 Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Spinocerebellar ataxia 45 See cases	Criteria Provided Multiple Submitters No Conflicts	CA257459	rs_121913123	21 SubmittersRCV000017623 RCV000196988 RCV000178717 RCV000493379 RCV003330393 RCV004541007 RCV003128387
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	16 SubmittersRCV000022554 RCV000078149 RCV000492836 RCV003335052 RCV003483435
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	Criteria Provided Conflicting Classifications	CA215560	rs_201532589	7 SubmittersRCV000034484 RCV000463959 RCV000575301 RCV001101031
NM_000143.4(FH):c.883G>A (p.Ala295Thr)	SNV Germline	Chr1:241506024	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Fumarase deficiency	Criteria Provided Conflicting Classifications	CA159740	rs_145843819	8 SubmittersRCV000034485 RCV000121091 RCV000166620 RCV000687788
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	Criteria Provided Conflicting Classifications	CA215563	rs_201502246	7 SubmittersRCV000034486 RCV000471678 RCV000568576
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	8 SubmittersRCV000034487 RCV000332300 RCV000381370 RCV001011508 RCV004555533
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 Hereditary leiomyomatosis and renal cell cancer Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA189211	rs_200796606	11 SubmittersRCV000034920 RCV000163798 RCV000199873 RCV001762109 RCV002280864
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	Criteria Provided Multiple Submitters No Conflicts	CA285319	rs_398123159	10 SubmittersRCV000078140 RCV000220396 RCV000445596 RCV003460741 RCV004555535
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 Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome Fumarase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA285329	rs_398123168	9 SubmittersRCV000078152 RCV000762893 RCV000445608 RCV002371923 RCV003460742
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA159743	rs_201975537	5 SubmittersRCV000121092 RCV000575122 RCV001061733 RCV001558721
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 SubmittersRCV000121093 RCV000554866 RCV000567053 RCV002514641
NM_000143.4(FH):c.1303G>A (p.Val435Met)	SNV Germline	Chr1:241500524	Conflicting classifications of pathogenicity	not specified Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer Condition: not provided FH-related disorder	Criteria Provided Conflicting Classifications	CA159749	rs_147528200	10 SubmittersRCV000121094 RCV000473170 RCV000571469 RCV003325184 RCV001564388 RCV004555537
NM_000143.4(FH):c.697C>T (p.Arg233Cys)	SNV Germline	Chr1:241508644	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Fumarase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA165194	rs_587781682	8 SubmittersRCV000129845 RCV000153237 RCV000549060
NM_000143.4(FH):c.208G>A (p.Ala70Thr)	SNV Germline	Chr1:241517241	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Fumarase deficiency Ovarian cancer	Criteria Provided Conflicting Classifications	CA167291	rs_587782207	8 SubmittersRCV000130874 RCV000200494 RCV000462728 RCV003153423
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	4 SubmittersRCV000131997 RCV001029752 RCV002514749 RCV004567146
NM_000143.4(FH):c.700A>G (p.Thr234Ala)	SNV Germline	Chr1:241508641	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer	Criteria Provided Multiple Submitters No Conflicts	CA189288	rs_372505976	6 SubmittersRCV000163828 RCV000195694 RCV002498811 RCV003467282 RCV003316008
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 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA197225	rs_199641124	7 SubmittersRCV000166997 RCV000469505 RCV001101030 RCV003320130 RCV002516512
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	Criteria Provided Conflicting Classifications	CA192361	rs_61753295	5 SubmittersRCV000165037 RCV000349307 RCV000388495 RCV001582651
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 FH-related disorder	Criteria Provided Conflicting Classifications	CA187930	rs_201878591	8 SubmittersRCV000163293 RCV000467508 RCV001532106 RCV002291575 RCV004555540
NM_000143.4(FH):c.122C>T (p.Ala41Val)	SNV Germline	Chr1:241519601	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Condition: not provided not specified FH-related disorder	Criteria Provided Conflicting Classifications	CA189176	rs_201486221	9 SubmittersRCV000163787 RCV000342312 RCV000394167 RCV000837956 RCV002267906 RCV004555541
NM_000143.4(FH):c.63C>T (p.Ala21=)	SNV Germline	Chr1:241519660	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA196927	rs_555404867	4 SubmittersRCV000166876 RCV000270051 RCV000370510 RCV001706088
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 Fumarase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347392	rs_797044973	5 SubmittersRCV000193655 RCV000493531 RCV000804152 RCV001534141
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 SubmittersRCV000196540 RCV004567400
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 SubmittersRCV000198930 RCV000494502 RCV004567403
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 cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA325330	rs_863224007	12 SubmittersRCV000200752 RCV000445595 RCV000465210 RCV002336534
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	7 SubmittersRCV000200592 RCV001017278 RCV002291591 RCV004567402
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	Criteria Provided Conflicting Classifications	CA323206	rs_755436052	9 SubmittersRCV000198662 RCV000696839 RCV002465557 RCV003165454
NM_000143.4(FH):c.904+1G>A	SNV Germline	Chr1:241506002	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1553341148	4 SubmittersRCV002372178 RCV003316091 RCV002503771 RCV002517214
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 not specified	Criteria Provided Conflicting Classifications	CA325227	rs_772190176	6 SubmittersRCV000200636 RCV000467363 RCV000572182 RCV003387797
NM_000143.4(FH):c.194A>G (p.Asp65Gly)	SNV Germline	Chr1:241517255	Conflicting classifications of pathogenicity	Condition: not provided Fumarase deficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA321905	rs_145116688	6 SubmittersRCV000197441 RCV000456662 RCV001013787
NM_000143.4(FH):c.7C>T (p.Arg3Ter)	SNV Germline	Chr1:241519716	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Fumarase deficiency	Criteria Provided Conflicting Classifications	CA321335	rs_202166344	4 SubmittersRCV000196918 RCV002415845 RCV003468886
NM_000143.4(FH):c.7C>G (p.Arg3Gly)	SNV Germline	Chr1:241519716	Conflicting classifications of pathogenicity	Condition: not provided Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA319970	rs_202166344	9 SubmittersRCV000195609 RCV000204400 RCV000346414 RCV000568788 RCV001818470
NM_000143.4(FH):c.-11C>T	SNV Germline	Chr1:241519733	Conflicting classifications of pathogenicity	not specified Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA324080	rs_200942733	6 SubmittersRCV000199536 RCV000261877 RCV000368306 RCV001529842
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	7 SubmittersRCV000228601 RCV001011810 RCV001097100 RCV001589167 RCV002267976 RCV004555546
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 SubmittersRCV000570137 RCV001001725 RCV001550243 RCV003469130
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 SubmittersRCV000230405 RCV001589168 RCV002372248 RCV002487046
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 SubmittersRCV000255853 RCV001011336 RCV001251427 RCV003454775
NM_000143.4(FH):c.214A>C (p.Thr72Pro)	SNV Germline	Chr1:241517235	Conflicting classifications of pathogenicity	Condition: not provided Fumarase deficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10588293	rs_886039362	4 SubmittersRCV000254803 RCV001062945 RCV002429193
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 SubmittersRCV000343612 RCV000400259
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 SubmittersRCV000311306 RCV000398468 RCV003698757
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	Criteria Provided Conflicting Classifications	CA10609675	rs_776806414	4 SubmittersRCV000307949 RCV000369616 RCV002418146 RCV002522126
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	3 SubmittersRCV000326720 RCV000366211 RCV001011606 RCV003103755
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	Criteria Provided Conflicting Classifications	CA10609921	rs_74405673	3 SubmittersRCV000270742 RCV000325826 RCV001711881 RCV003320627
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 SubmittersRCV000297371 RCV000355546
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	4 SubmittersRCV000321597 RCV000360971 RCV000436971 RCV002522125
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	9 SubmittersRCV000315971 RCV000372989 RCV000564759 RCV001706443 RCV002268018 RCV004555551
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	5 SubmittersRCV000285539 RCV000342804 RCV000564813 RCV001711883
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	5 SubmittersRCV000430394 RCV001019060 RCV004567924
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 SubmittersRCV000445594 RCV004567929
NM_000143.4(FH):c.655G>A (p.Asp219Asn)	SNV Germline	Chr1:241508686	Conflicting classifications of pathogenicity	Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1478641	rs_11545656	4 SubmittersRCV000472774 RCV001025411 RCV001098958 RCV002523294 RCV003320643
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	Criteria Provided Conflicting Classifications	CA1478652	rs_370229813	7 SubmittersRCV000475091 RCV001024280 RCV001569283 RCV002268072 RCV002489019
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	Criteria Provided Conflicting Classifications	CA1478716	rs_75086406	6 SubmittersRCV000466487 RCV001018184 RCV001546164 RCV003320644
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 SubmittersRCV000571863 RCV001591074 RCV004567964
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 SubmittersRCV000458630 RCV001577061 RCV003278809
NM_000143.4(FH):c.1433A>G (p.Asn478Ser)	SNV Germline	Chr1:241497928	Conflicting classifications of pathogenicity	Fumarase deficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1478439	rs_201886827	5 SubmittersRCV000462215 RCV002393092 RCV003103776
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	2 SubmittersRCV000476829 RCV001100670 RCV002525650
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	Criteria Provided Multiple Submitters No Conflicts	CA16617112	rs_1064796708	4 SubmittersRCV000485484 RCV003168979 RCV003464036
NM_000143.4(FH):c.268-2A>G	SNV Germline	Chr1:241513715	Conflicting classifications of pathogenicity	Condition: not provided Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer	Criteria Provided Conflicting Classifications	CA16617119	rs_1064793741	5 SubmittersRCV000487137 RCV001390078 RCV003168943 RCV003449186
NM_000143.4(FH):c.689A>G (p.Lys230Arg)	SNV Germline	Chr1:241508652	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Fumarase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA1478630	rs_752232718	4 SubmittersRCV000494410 RCV001782983 RCV003464063
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 SubmittersRCV000498190 RCV001196074
NM_000143.4(FH):c.555+1G>A	SNV Germline	Chr1:241511966	Pathogenic/Likely pathogenic	Condition: not provided Fumarase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA345439814	rs_1375252870	3 SubmittersRCV000522660 RCV003464109
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	Criteria Provided Conflicting Classifications	CA1478602	rs_202060616	4 SubmittersRCV000525718 RCV000573963 RCV001551931
NM_000143.4(FH):c.514A>G (p.Lys172Glu)	SNV Germline	Chr1:241512008	Conflicting classifications of pathogenicity	Fumarase deficiency Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA40331857	rs_201154463	4 SubmittersRCV000548223 RCV002528329 RCV002341290
NM_000143.4(FH):c.4T>C (p.Tyr2His)	SNV Germline	Chr1:241519719	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Fumarase deficiency FH-related disorder	Criteria Provided Conflicting Classifications	CA1478785	rs_112335468	6 SubmittersRCV001023401 RCV001662540 RCV003459206 RCV004555584
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 SubmittersRCV000572622 RCV002461294 RCV004568765
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	Criteria Provided Conflicting Classifications	CA1478642	rs_199536615	9 SubmittersRCV000564564 RCV000705539 RCV001529212 RCV001821687
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	4 SubmittersRCV000571616 RCV000635311 RCV002528980
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 SubmittersRCV000562224 RCV001046087 RCV002509451
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 SubmittersRCV000562796 RCV000635299 RCV001764682
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 SubmittersRCV000635308 RCV002325224 RCV002509481
NM_000143.4(FH):c.5A>G (p.Tyr2Cys)	SNV Germline	Chr1:241519718	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Fumarase deficiency	Criteria Provided Conflicting Classifications	CA345443111	rs_1553342167	3 SubmittersRCV002358784 RCV002529839 RCV003459516
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		rs_1558396285	4 SubmittersRCV002388323 RCV002533667 RCV003456135 RCV003465624
NM_000143.4(FH):c.1330A>G (p.Arg444Gly)	SNV Germline	Chr1:241500497	Conflicting classifications of pathogenicity	Fumarase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_749266351	2 SubmittersRCV000695735 RCV002532321
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		rs_776240700	6 SubmittersRCV000692469 RCV001024262 RCV001771957 RCV002268252
NM_000143.4(FH):c.65T>A (p.Leu22Ter)	SNV Germline	Chr1:241519658	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Fumarase deficiency	Criteria Provided Conflicting Classifications		rs_1031919395	4 SubmittersRCV001771965 RCV003163189 RCV003460938
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		rs_367826177	6 SubmittersRCV000700942 RCV001020691 RCV001771986
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		rs_760360724	4 SubmittersRCV000698203 RCV002343499 RCV002533514
NM_000143.4(FH):c.1415C>T (p.Ala472Val)	SNV Germline	Chr1:241497946	Conflicting classifications of pathogenicity	Fumarase deficiency Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_765643179	5 SubmittersRCV000819944 RCV001772135 RCV001011457
NM_000143.4(FH):c.853A>G (p.Thr285Ala)	SNV Germline	Chr1:241506054	Conflicting classifications of pathogenicity	Condition: not provided Fumarase deficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_200791185	3 SubmittersRCV002535856 RCV003467328 RCV002442613
NM_000143.4(FH):c.578C>T (p.Thr193Ile)	SNV Germline	Chr1:241508763	Conflicting classifications of pathogenicity	Condition: not provided Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer	Criteria Provided Conflicting Classifications		rs_1573883332	2 SubmittersRCV002537132 RCV002487693
NM_000143.4(FH):c.415G>A (p.Val139Met)	SNV Germline	Chr1:241512107	Conflicting classifications of pathogenicity	Fumarase deficiency Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer Microcephaly Condition: not provided Ovarian cancer	Criteria Provided Conflicting Classifications		rs_200343823	9 SubmittersRCV000810319 RCV001021974 RCV001100769 RCV001252807 RCV001585739 RCV003153850
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		rs_757312078	4 SubmittersRCV000820876 RCV002442754 RCV002537480
NM_000143.4(FH):c.152G>C (p.Arg51Pro)	SNV Germline	Chr1:241517297	Likely pathogenic	Fumarase deficiency Condition: not provided	Criteria Provided Single Submitter		rs_976734433	2 SubmittersRCV000797723 RCV002537051
NM_000143.4(FH):c.151C>T (p.Arg51Trp)	SNV Germline	Chr1:241517298	Conflicting classifications of pathogenicity	Fumarase deficiency Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_778678782	5 SubmittersRCV000804384 RCV002256525 RCV002537177 RCV002465783
NM_000143.4(FH):c.127C>T (p.Arg43Ter)	SNV Germline	Chr1:241519596	Pathogenic/Likely pathogenic	Condition: not provided Fumarase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_200496951	2 SubmittersRCV001784418 RCV003467368
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		rs_587778360	4 SubmittersRCV000808009 RCV002363079 RCV002537277
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		rs_1573890047	3 SubmittersRCV000804394 RCV002534780 RCV004028172
NM_000143.4(FH):c.1A>T (p.Met1Leu)	SNV Germline	Chr1:241519722	Conflicting classifications of pathogenicity	Fumarase deficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_776806414	3 SubmittersRCV000794812 RCV002422699 RCV002535910
NM_000143.4(FH):c.739-2A>G	SNV Germline	Chr1:241506170	Pathogenic/Likely pathogenic	Hereditary leiomyomatosis and renal cell cancer Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1553341174	3 SubmittersRCV001563611 RCV002495120 RCV002537332
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	Criteria Provided Conflicting Classifications		rs_540968725	4 SubmittersRCV000908521 RCV001021952 RCV002540777
NM_000143.4(FH):c.574C>T (p.Pro192Ser)	SNV Germline	Chr1:241508767	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer Condition: not provided	Criteria Provided Conflicting Classifications		rs_1573883345	3 SubmittersRCV001024482 RCV001100768 RCV001098959 RCV002551893
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		rs_1057521425	3 SubmittersRCV001022288 RCV002549552 RCV003461391
NM_000143.4(FH):c.260G>A (p.Arg87His)	SNV Germline	Chr1:241517189	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fumarase deficiency Condition: not provided Ovarian cancer	Criteria Provided Conflicting Classifications		rs_200007371	5 SubmittersRCV001016095 RCV001051373 RCV002550814 RCV003153886
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		rs_876658186	3 SubmittersRCV001010297 RCV001037079 RCV002549316
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		rs_1031919395	4 SubmittersRCV001025446 RCV002508277 RCV003461407
NM_000143.4(FH):c.1169A>G (p.Asn390Ser)	SNV Germline	Chr1:241502510	Conflicting classifications of pathogenicity	Condition: not provided Fumarase deficiency	Criteria Provided Conflicting Classifications		rs_1178007598	3 SubmittersRCV003128750 RCV001072142
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		rs_201589544	2 SubmittersRCV001099128 RCV001099129 RCV002255620
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		rs_765629644	2 SubmittersRCV001098957 RCV001098956 RCV002556011
NM_000143.4(FH):c.405T>G (p.His135Gln)	SNV Germline	Chr1:241512117	Conflicting classifications of pathogenicity	Fumarase deficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1298815479	5 SubmittersRCV001209597 RCV002322024 RCV001751383
NM_000143.4(FH):c.1108+1G>A	SNV Germline	Chr1:241504041	Pathogenic	Fumarase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1057517734	2 SubmittersRCV001215802 RCV002561872
NM_000143.4(FH):c.378+1G>A	SNV Germline	Chr1:241513602	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Fumarase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1660143675	3 SubmittersRCV002366032 RCV002563184 RCV003469407
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		rs_1338650106	3 SubmittersRCV001360945 RCV002547761
NM_000143.4(FH):c.1390+5G>A	SNV Germline	Chr1:241500432	Conflicting classifications of pathogenicity	Fumarase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_1352808353	3 SubmittersRCV001373130 RCV002548668
NM_000143.4(FH):c.664T>C (p.Ser222Pro)	SNV Germline	Chr1:241508677	Likely pathogenic	Fumarase deficiency	Criteria Provided Single Submitter		rs_1448268784	1 SubmittersRCV001775239
NM_000143.4(FH):c.1274A>T (p.Asp425Val)	SNV Unknown	Chr1:241500553	Likely pathogenic	Fumarase deficiency	Criteria Provided Single Submitter		rs_1038324354	1 SubmittersRCV003468196
NM_000143.4(FH):c.1358T>C (p.Leu453Pro)	SNV Germline	Chr1:241500469	Pathogenic/Likely pathogenic	Condition: not provided Fumarase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_2147913041	2 SubmittersRCV001781104 RCV004556087
NM_000143.4(FH):c.797T>C (p.Met266Thr)	SNV Germline	Chr1:241506110	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer Fumarase deficiency	Criteria Provided Conflicting Classifications		rs_764648497	4 SubmittersRCV002423251 RCV002545560 RCV003154232 RCV003471264
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			2 SubmittersRCV002396686 RCV003465720
NM_000143.4(FH):c.1483G>T (p.Glu495Ter)	SNV Unknown	Chr1:241497878	Likely pathogenic	Fumarase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003468193
NM_000143.4(FH):c.32C>A (p.Ser11Ter)	SNV Unknown	Chr1:241519691	Likely pathogenic	Fumarase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003461572

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 SubmittersRCV000017618 RCV002426509

NM_000143.4(FH):c.301C>T (p.Arg101Ter)

SNV
Germline

Chr1:241513680

Pathogenic

Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA167288

rs_121913120

13 SubmittersRCV000017619 RCV000199330 RCV000130873 RCV000515176

NM_000143.4(FH):c.1027C>T (p.Arg343Ter)

SNV
Germline

Chr1:241504123

Pathogenic

Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA167294

rs_121913122

9 SubmittersRCV000017622 RCV000130875 RCV000197989 RCV003466863

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
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Spinocerebellar ataxia 45
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA257459

rs_121913123

21 SubmittersRCV000017623 RCV000196988 RCV000178717 RCV000493379 RCV003330393 RCV004541007 RCV003128387

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

16 SubmittersRCV000022554 RCV000078149 RCV000492836 RCV003335052 RCV003483435

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

Criteria Provided
Conflicting Classifications

CA215560

rs_201532589

7 SubmittersRCV000034484 RCV000463959 RCV000575301 RCV001101031

NM_000143.4(FH):c.883G>A (p.Ala295Thr)

SNV
Germline

Chr1:241506024

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Fumarase deficiency

Criteria Provided
Conflicting Classifications

CA159740

rs_145843819

8 SubmittersRCV000034485 RCV000121091 RCV000166620 RCV000687788

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

Criteria Provided
Conflicting Classifications

CA215563

rs_201502246

7 SubmittersRCV000034486 RCV000471678 RCV000568576

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

8 SubmittersRCV000034487 RCV000332300 RCV000381370 RCV001011508 RCV004555533

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
Hereditary leiomyomatosis and renal cell cancer
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA189211

rs_200796606

11 SubmittersRCV000034920 RCV000163798 RCV000199873 RCV001762109 RCV002280864

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

Criteria Provided
Multiple Submitters
No Conflicts

CA285319

rs_398123159

10 SubmittersRCV000078140 RCV000220396 RCV000445596 RCV003460741 RCV004555535

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
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
Fumarase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA285329

rs_398123168

9 SubmittersRCV000078152 RCV000762893 RCV000445608 RCV002371923 RCV003460742

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA159743

rs_201975537

5 SubmittersRCV000121092 RCV000575122 RCV001061733 RCV001558721

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 SubmittersRCV000121093 RCV000554866 RCV000567053 RCV002514641

NM_000143.4(FH):c.1303G>A (p.Val435Met)

SNV
Germline

Chr1:241500524

Conflicting classifications of pathogenicity

not specified
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
FH-related disorder

Criteria Provided
Conflicting Classifications

CA159749

rs_147528200

10 SubmittersRCV000121094 RCV000473170 RCV000571469 RCV003325184 RCV001564388 RCV004555537

NM_000143.4(FH):c.697C>T (p.Arg233Cys)

SNV
Germline

Chr1:241508644

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA165194

rs_587781682

8 SubmittersRCV000129845 RCV000153237 RCV000549060

NM_000143.4(FH):c.208G>A (p.Ala70Thr)

SNV
Germline

Chr1:241517241

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA167291

rs_587782207

8 SubmittersRCV000130874 RCV000200494 RCV000462728 RCV003153423

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

4 SubmittersRCV000131997 RCV001029752 RCV002514749 RCV004567146

NM_000143.4(FH):c.700A>G (p.Thr234Ala)

SNV
Germline

Chr1:241508641

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA189288

rs_372505976

6 SubmittersRCV000163828 RCV000195694 RCV002498811 RCV003467282 RCV003316008

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
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA197225

rs_199641124

7 SubmittersRCV000166997 RCV000469505 RCV001101030 RCV003320130 RCV002516512

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

Criteria Provided
Conflicting Classifications

CA192361

rs_61753295

5 SubmittersRCV000165037 RCV000349307 RCV000388495 RCV001582651

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
FH-related disorder

Criteria Provided
Conflicting Classifications

CA187930

rs_201878591

8 SubmittersRCV000163293 RCV000467508 RCV001532106 RCV002291575 RCV004555540

NM_000143.4(FH):c.122C>T (p.Ala41Val)

SNV
Germline

Chr1:241519601

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
not specified
FH-related disorder

Criteria Provided
Conflicting Classifications

CA189176

rs_201486221

9 SubmittersRCV000163787 RCV000342312 RCV000394167 RCV000837956 RCV002267906 RCV004555541

NM_000143.4(FH):c.63C>T (p.Ala21=)

SNV
Germline

Chr1:241519660

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196927

rs_555404867

4 SubmittersRCV000166876 RCV000270051 RCV000370510 RCV001706088

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
Fumarase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347392

rs_797044973

5 SubmittersRCV000193655 RCV000493531 RCV000804152 RCV001534141

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 SubmittersRCV000196540 RCV004567400

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 SubmittersRCV000198930 RCV000494502 RCV004567403

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 cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA325330

rs_863224007

12 SubmittersRCV000200752 RCV000445595 RCV000465210 RCV002336534

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

7 SubmittersRCV000200592 RCV001017278 RCV002291591 RCV004567402

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

Criteria Provided
Conflicting Classifications

CA323206

rs_755436052

9 SubmittersRCV000198662 RCV000696839 RCV002465557 RCV003165454

NM_000143.4(FH):c.904+1G>A

SNV
Germline

Chr1:241506002

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553341148

4 SubmittersRCV002372178 RCV003316091 RCV002503771 RCV002517214

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
not specified

Criteria Provided
Conflicting Classifications

CA325227

rs_772190176

6 SubmittersRCV000200636 RCV000467363 RCV000572182 RCV003387797

NM_000143.4(FH):c.194A>G (p.Asp65Gly)

SNV
Germline

Chr1:241517255

Conflicting classifications of pathogenicity

Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA321905

rs_145116688

6 SubmittersRCV000197441 RCV000456662 RCV001013787

NM_000143.4(FH):c.7C>T (p.Arg3Ter)

SNV
Germline

Chr1:241519716

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency

Criteria Provided
Conflicting Classifications

CA321335

rs_202166344

4 SubmittersRCV000196918 RCV002415845 RCV003468886

NM_000143.4(FH):c.7C>G (p.Arg3Gly)

SNV
Germline

Chr1:241519716

Conflicting classifications of pathogenicity

Condition: not provided
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA319970

rs_202166344

9 SubmittersRCV000195609 RCV000204400 RCV000346414 RCV000568788 RCV001818470

NM_000143.4(FH):c.-11C>T

SNV
Germline

Chr1:241519733

Conflicting classifications of pathogenicity

not specified
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA324080

rs_200942733

6 SubmittersRCV000199536 RCV000261877 RCV000368306 RCV001529842

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

7 SubmittersRCV000228601 RCV001011810 RCV001097100 RCV001589167 RCV002267976 RCV004555546

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 SubmittersRCV000570137 RCV001001725 RCV001550243 RCV003469130

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 SubmittersRCV000230405 RCV001589168 RCV002372248 RCV002487046

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 SubmittersRCV000255853 RCV001011336 RCV001251427 RCV003454775

NM_000143.4(FH):c.214A>C (p.Thr72Pro)

SNV
Germline

Chr1:241517235

Conflicting classifications of pathogenicity

Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10588293

rs_886039362

4 SubmittersRCV000254803 RCV001062945 RCV002429193

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 SubmittersRCV000343612 RCV000400259

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 SubmittersRCV000311306 RCV000398468 RCV003698757

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

Criteria Provided
Conflicting Classifications

CA10609675

rs_776806414

4 SubmittersRCV000307949 RCV000369616 RCV002418146 RCV002522126

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

3 SubmittersRCV000326720 RCV000366211 RCV001011606 RCV003103755

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

Criteria Provided
Conflicting Classifications

CA10609921

rs_74405673

3 SubmittersRCV000270742 RCV000325826 RCV001711881 RCV003320627

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 SubmittersRCV000297371 RCV000355546

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

4 SubmittersRCV000321597 RCV000360971 RCV000436971 RCV002522125

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

9 SubmittersRCV000315971 RCV000372989 RCV000564759 RCV001706443 RCV002268018 RCV004555551

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

5 SubmittersRCV000285539 RCV000342804 RCV000564813 RCV001711883

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

5 SubmittersRCV000430394 RCV001019060 RCV004567924

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 SubmittersRCV000445594 RCV004567929

NM_000143.4(FH):c.655G>A (p.Asp219Asn)

SNV
Germline

Chr1:241508686

Conflicting classifications of pathogenicity

Fumarase deficiency
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1478641

rs_11545656

4 SubmittersRCV000472774 RCV001025411 RCV001098958 RCV002523294 RCV003320643

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

Criteria Provided
Conflicting Classifications

CA1478652

rs_370229813

7 SubmittersRCV000475091 RCV001024280 RCV001569283 RCV002268072 RCV002489019

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

Criteria Provided
Conflicting Classifications

CA1478716

rs_75086406

6 SubmittersRCV000466487 RCV001018184 RCV001546164 RCV003320644

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 SubmittersRCV000571863 RCV001591074 RCV004567964

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 SubmittersRCV000458630 RCV001577061 RCV003278809

NM_000143.4(FH):c.1433A>G (p.Asn478Ser)

SNV
Germline

Chr1:241497928

Conflicting classifications of pathogenicity

Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1478439

rs_201886827

5 SubmittersRCV000462215 RCV002393092 RCV003103776

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

2 SubmittersRCV000476829 RCV001100670 RCV002525650

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16617112

rs_1064796708

4 SubmittersRCV000485484 RCV003168979 RCV003464036

NM_000143.4(FH):c.268-2A>G

SNV
Germline

Chr1:241513715

Conflicting classifications of pathogenicity

Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer

Criteria Provided
Conflicting Classifications

CA16617119

rs_1064793741

5 SubmittersRCV000487137 RCV001390078 RCV003168943 RCV003449186

NM_000143.4(FH):c.689A>G (p.Lys230Arg)

SNV
Germline

Chr1:241508652

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA1478630

rs_752232718

4 SubmittersRCV000494410 RCV001782983 RCV003464063

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 SubmittersRCV000498190 RCV001196074

NM_000143.4(FH):c.555+1G>A

SNV
Germline

Chr1:241511966

Pathogenic/Likely pathogenic

Condition: not provided
Fumarase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA345439814

rs_1375252870

3 SubmittersRCV000522660 RCV003464109

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

Criteria Provided
Conflicting Classifications

CA1478602

rs_202060616

4 SubmittersRCV000525718 RCV000573963 RCV001551931

NM_000143.4(FH):c.514A>G (p.Lys172Glu)

SNV
Germline

Chr1:241512008

Conflicting classifications of pathogenicity

Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA40331857

rs_201154463

4 SubmittersRCV000548223 RCV002528329 RCV002341290

NM_000143.4(FH):c.4T>C (p.Tyr2His)

SNV
Germline

Chr1:241519719

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency
FH-related disorder

Criteria Provided
Conflicting Classifications

CA1478785

rs_112335468

6 SubmittersRCV001023401 RCV001662540 RCV003459206 RCV004555584

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 SubmittersRCV000572622 RCV002461294 RCV004568765

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

Criteria Provided
Conflicting Classifications

CA1478642

rs_199536615

9 SubmittersRCV000564564 RCV000705539 RCV001529212 RCV001821687

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

4 SubmittersRCV000571616 RCV000635311 RCV002528980

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 SubmittersRCV000562224 RCV001046087 RCV002509451

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 SubmittersRCV000562796 RCV000635299 RCV001764682

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 SubmittersRCV000635308 RCV002325224 RCV002509481

NM_000143.4(FH):c.5A>G (p.Tyr2Cys)

SNV
Germline

Chr1:241519718

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency

Criteria Provided
Conflicting Classifications

CA345443111

rs_1553342167

3 SubmittersRCV002358784 RCV002529839 RCV003459516

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

rs_1558396285

4 SubmittersRCV002388323 RCV002533667 RCV003456135 RCV003465624

NM_000143.4(FH):c.1330A>G (p.Arg444Gly)

SNV
Germline

Chr1:241500497

Conflicting classifications of pathogenicity

Fumarase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749266351

2 SubmittersRCV000695735 RCV002532321

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

rs_776240700

6 SubmittersRCV000692469 RCV001024262 RCV001771957 RCV002268252

NM_000143.4(FH):c.65T>A (p.Leu22Ter)

SNV
Germline

Chr1:241519658

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fumarase deficiency

Criteria Provided
Conflicting Classifications

rs_1031919395

4 SubmittersRCV001771965 RCV003163189 RCV003460938

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

rs_367826177

6 SubmittersRCV000700942 RCV001020691 RCV001771986

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

rs_760360724

4 SubmittersRCV000698203 RCV002343499 RCV002533514

NM_000143.4(FH):c.1415C>T (p.Ala472Val)

SNV
Germline

Chr1:241497946

Conflicting classifications of pathogenicity

Fumarase deficiency
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_765643179

5 SubmittersRCV000819944 RCV001772135 RCV001011457

NM_000143.4(FH):c.853A>G (p.Thr285Ala)

SNV
Germline

Chr1:241506054

Conflicting classifications of pathogenicity

Condition: not provided
Fumarase deficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_200791185

3 SubmittersRCV002535856 RCV003467328 RCV002442613

NM_000143.4(FH):c.578C>T (p.Thr193Ile)

SNV
Germline

Chr1:241508763

Conflicting classifications of pathogenicity

Condition: not provided
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer

Criteria Provided
Conflicting Classifications

rs_1573883332

2 SubmittersRCV002537132 RCV002487693

NM_000143.4(FH):c.415G>A (p.Val139Met)

SNV
Germline

Chr1:241512107

Conflicting classifications of pathogenicity

Fumarase deficiency
Hereditary cancer-predisposing syndrome
Hereditary leiomyomatosis and renal cell cancer
Microcephaly
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_200343823

9 SubmittersRCV000810319 RCV001021974 RCV001100769 RCV001252807 RCV001585739 RCV003153850

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

rs_757312078

4 SubmittersRCV000820876 RCV002442754 RCV002537480

NM_000143.4(FH):c.152G>C (p.Arg51Pro)

SNV
Germline

Chr1:241517297

Likely pathogenic

Fumarase deficiency
Condition: not provided

Criteria Provided
Single Submitter

rs_976734433

2 SubmittersRCV000797723 RCV002537051

NM_000143.4(FH):c.151C>T (p.Arg51Trp)

SNV
Germline

Chr1:241517298

Conflicting classifications of pathogenicity

Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_778678782

5 SubmittersRCV000804384 RCV002256525 RCV002537177 RCV002465783

NM_000143.4(FH):c.127C>T (p.Arg43Ter)

SNV
Germline

Chr1:241519596

Pathogenic/Likely pathogenic

Condition: not provided
Fumarase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_200496951

2 SubmittersRCV001784418 RCV003467368

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

rs_587778360

4 SubmittersRCV000808009 RCV002363079 RCV002537277

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

rs_1573890047

3 SubmittersRCV000804394 RCV002534780 RCV004028172

NM_000143.4(FH):c.1A>T (p.Met1Leu)

SNV
Germline

Chr1:241519722

Conflicting classifications of pathogenicity

Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776806414

3 SubmittersRCV000794812 RCV002422699 RCV002535910

NM_000143.4(FH):c.739-2A>G

SNV
Germline

Chr1:241506170

Pathogenic/Likely pathogenic

Hereditary leiomyomatosis and renal cell cancer
Hereditary leiomyomatosis and renal cell cancer
Fumarase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553341174

3 SubmittersRCV001563611 RCV002495120 RCV002537332

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

Criteria Provided
Conflicting Classifications

rs_540968725

4 SubmittersRCV000908521 RCV001021952 RCV002540777

NM_000143.4(FH):c.574C>T (p.Pro192Ser)

SNV
Germline

Chr1:241508767

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fumarase deficiency
Hereditary leiomyomatosis and renal cell cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1573883345

3 SubmittersRCV001024482 RCV001100768 RCV001098959 RCV002551893

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

rs_1057521425

3 SubmittersRCV001022288 RCV002549552 RCV003461391

NM_000143.4(FH):c.260G>A (p.Arg87His)

SNV
Germline

Chr1:241517189

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fumarase deficiency
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_200007371

5 SubmittersRCV001016095 RCV001051373 RCV002550814 RCV003153886

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

rs_876658186

3 SubmittersRCV001010297 RCV001037079 RCV002549316

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

rs_1031919395

4 SubmittersRCV001025446 RCV002508277 RCV003461407

NM_000143.4(FH):c.1169A>G (p.Asn390Ser)

SNV
Germline

Chr1:241502510

Conflicting classifications of pathogenicity

Condition: not provided
Fumarase deficiency

Criteria Provided
Conflicting Classifications

rs_1178007598

3 SubmittersRCV003128750 RCV001072142

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

rs_201589544

2 SubmittersRCV001099128 RCV001099129 RCV002255620

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

rs_765629644

2 SubmittersRCV001098957 RCV001098956 RCV002556011

NM_000143.4(FH):c.405T>G (p.His135Gln)

SNV
Germline

Chr1:241512117

Conflicting classifications of pathogenicity

Fumarase deficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1298815479

5 SubmittersRCV001209597 RCV002322024 RCV001751383

NM_000143.4(FH):c.1108+1G>A

SNV
Germline

Chr1:241504041

Pathogenic

Fumarase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057517734

2 SubmittersRCV001215802 RCV002561872

NM_000143.4(FH):c.378+1G>A

SNV
Germline

Chr1:241513602

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fumarase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1660143675

3 SubmittersRCV002366032 RCV002563184 RCV003469407

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

rs_1338650106

3 SubmittersRCV001360945 RCV002547761

NM_000143.4(FH):c.1390+5G>A

SNV
Germline

Chr1:241500432

Conflicting classifications of pathogenicity

Fumarase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1352808353

3 SubmittersRCV001373130 RCV002548668

NM_000143.4(FH):c.664T>C (p.Ser222Pro)

SNV
Germline

Chr1:241508677

Likely pathogenic

Fumarase deficiency

Criteria Provided
Single Submitter

rs_1448268784

1 SubmittersRCV001775239

NM_000143.4(FH):c.1274A>T (p.Asp425Val)

SNV
Unknown

Chr1:241500553

Likely pathogenic

Fumarase deficiency

Criteria Provided
Single Submitter

rs_1038324354

1 SubmittersRCV003468196

NM_000143.4(FH):c.1358T>C (p.Leu453Pro)

SNV
Germline

Chr1:241500469

Pathogenic/Likely pathogenic

Condition: not provided
Fumarase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147913041

2 SubmittersRCV001781104 RCV004556087

NM_000143.4(FH):c.797T>C (p.Met266Thr)

SNV
Germline

Chr1:241506110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Fumarase deficiency

Criteria Provided
Conflicting Classifications

rs_764648497

4 SubmittersRCV002423251 RCV002545560 RCV003154232 RCV003471264

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

2 SubmittersRCV002396686 RCV003465720

NM_000143.4(FH):c.1483G>T (p.Glu495Ter)

SNV
Unknown

Chr1:241497878

Likely pathogenic

Fumarase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003468193

NM_000143.4(FH):c.32C>A (p.Ser11Ter)

SNV
Unknown

Chr1:241519691

Likely pathogenic

Fumarase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003461572