ClinVar for MedGen (Select 87458) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370417	NM_000143.4(FH):c.904+2T>C	FH	Single nucleotide variant (splice donor variant)	Fumarase deficiency +1 more	GLikely pathogenic
Select item 3241621	NM_000143.4(FH):c.1290del (p.Phe430fs)	FH (F430fs)	Deletion (frameshift variant)	Fumarase deficiency	GLikely pathogenic
Select item 3241620	NM_000143.4(FH):c.968A>G (p.Glu323Gly)	FH (E323G)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 3241619	NM_000143.4(FH):c.1235T>C (p.Met412Thr)	FH (M412T)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 3241618	NM_000143.4(FH):c.1276G>A (p.Ala426Thr)	FH (A426T)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 2878646	NM_000143.4(FH):c.807C>G (p.Ile269Met)	FH (I269M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2675693	NM_000143.4(FH):c.32C>A (p.Ser11Ter)	FH (S11*)	Single nucleotide variant (nonsense)	Fumarase deficiency	GLikely pathogenic
Select item 2675692	NM_000143.4(FH):c.1274A>T (p.Asp425Val)	FH (D425V)	Single nucleotide variant (missense variant)	Fumarase deficiency	GLikely pathogenic
Select item 2675690	NM_000143.4(FH):c.839del (p.Gly280fs)	FH (G280fs)	Deletion (frameshift variant)	Fumarase deficiency	GLikely pathogenic
Select item 2675689	NM_000143.4(FH):c.40_41insG (p.Leu14fs)	FH (L14fs)	Insertion (frameshift variant)	Fumarase deficiency	GLikely pathogenic
Select item 2675688	NM_000143.4(FH):c.29_32delinsTT (p.Arg10fs)	FH (R10fs)	Indel (frameshift variant)	Fumarase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2675687	NM_000143.4(FH):c.337del (p.Asp113fs)	FH (D113fs)	Deletion (frameshift variant)	Fumarase deficiency	GLikely pathogenic
Select item 2675686	NM_000143.4(FH):c.1483G>T (p.Glu495Ter)	FH (E495*)	Single nucleotide variant (nonsense)	Fumarase deficiency	GLikely pathogenic
Select item 2675685	NM_000143.4(FH):c.1493A>G (p.Asp498Gly)	FH (D498G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2675681	NM_000143.4(FH):c.862G>A (p.Gly288Ser)	FH (G288S)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 2587059	NM_000143.4(FH):c.16C>G (p.Arg6Gly)	FH (R6G)	Single nucleotide variant (missense variant)	Fumarase deficiency +1 more	GUncertain significance
Select item 2573279	NM_000143.4(FH):c.490del (p.Met164fs)	FH (M164fs)	Deletion (frameshift variant)	Fumarase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2562374	NM_000143.4(FH):c.265C>T (p.Pro89Ser)	FH (P89S)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 2115916	NM_000143.4(FH):c.1218T>A (p.Asn406Lys)	FH (N406K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1964153	NM_000143.4(FH):c.1390+3_1390+6del	FH	Deletion (splice donor variant)	not provided +1 more	GUncertain significance
Select item 1809689	NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCA	FH	Insertion (intron variant)	Fumarase deficiency +1 more	GLikely benign
Select item 1803713	NM_000143.4(FH):c.1517T>G (p.Met506Arg)	FH (M506R)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 1771552	NM_000143.4(FH):c.1391-1G>T	FH	Single nucleotide variant (splice acceptor variant)	Fumarase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1771116	NM_000143.4(FH):c.1030T>C (p.Phe344Leu)	FH (F344L)	Single nucleotide variant (missense variant)	Fumarase deficiency +1 more	GUncertain significance
Select item 1758447	NM_000143.4(FH):c.734G>A (p.Gly245Glu)	FH (G245E)	Single nucleotide variant (missense variant)	Fumarase deficiency +1 more	GUncertain significance
Select item 1755560	NM_000143.4(FH):c.680A>G (p.Gln227Arg)	FH (Q227R)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 1692238	NM_000143.4(FH):c.1237-50TC[27]	FH	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 1687326	NM_000143.4(FH):c.279T>G (p.Ile93Met)	FH (I93M)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 1510249	NM_000143.4(FH):c.797T>C (p.Met266Thr)	FH (M266T)	Single nucleotide variant (missense variant)	Ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 1501518	NM_000143.4(FH):c.354T>G (p.Asn118Lys)	FH (N118K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1488936	NM_000143.4(FH):c.776T>C (p.Met259Thr)	FH (M259T)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GUncertain significance
Select item 1464942	NM_000143.4(FH):c.116C>T (p.Pro39Leu)	FH (P39L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1440004	NM_000143.4(FH):c.707C>T (p.Thr236Ile)	FH (T236I)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GUncertain significance
Select item 1432248	NM_000143.4(FH):c.148T>C (p.Phe50Leu)	FH (F50L)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 1430565	NM_000143.4(FH):c.1459A>G (p.Ile487Val)	FH (I487V)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 1429906	NM_000143.4(FH):c.31T>C (p.Ser11Pro)	FH (S11P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1413368	NM_000143.4(FH):c.909G>C (p.Leu303Phe)	FH (L303F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1324399	NM_000143.4(FH):c.1358T>C (p.Leu453Pro)	FH (L453P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1320066	NM_000143.4(FH):c.664T>C (p.Ser222Pro)	FH (S222P)	Single nucleotide variant (missense variant)	Fumarase deficiency	GLikely pathogenic
Select item 1214458	NM_000143.4(FH):c.691A>C (p.Ile231Leu)	FH (I231L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1197605	NM_000143.4(FH):c.733G>A (p.Gly245Arg)	FH (G245R)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 1063305	NM_000143.4(FH):c.1390+5G>A	FH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1061208	NM_000143.4(FH):c.203A>G (p.Tyr68Cys)	FH (Y68C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1053954	NM_000143.4(FH):c.1340A>G (p.Lys447Arg)	FH (K447R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1052714	NM_000143.4(FH):c.1390+6T>A	FH	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1047745	NM_000143.4(FH):c.648T>G (p.Asp216Glu)	FH (D216E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1042609	NM_000143.4(FH):c.979G>A (p.Ala327Thr)	FH (A327T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1026879	NM_000143.4(FH):c.367G>C (p.Ala123Pro)	FH (A123P)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 1026405	NM_000143.4(FH):c.601A>G (p.Ile201Val)	FH (I201V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026013	NM_000143.4(FH):c.1501G>A (p.Val501Ile)	FH (V501I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1025847	NM_000143.4(FH):c.239A>C (p.Lys80Thr)	FH (K80T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1022416	NM_000143.4(FH):c.254C>G (p.Thr85Arg)	FH (T85R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1020589	NM_000143.4(FH):c.284C>T (p.Ala95Val)	FH (A95V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1018015	NM_000143.4(FH):c.599C>T (p.Ala200Val)	FH (A200V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1007873	NM_000143.4(FH):c.1259C>T (p.Ala420Val)	FH (A420V)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GUncertain significance
Select item 1002639	NM_000143.4(FH):c.904G>A (p.Gly302Ser)	FH (G302S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1001323	NM_000143.4(FH):c.370G>A (p.Ala124Thr)	FH (A124T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991800	NM_000143.4(FH):c.100C>T (p.Pro34Ser)	FH (P34S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 991799	NM_000143.4(FH):c.1069A>G (p.Ile357Val)	FH (I357V)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 971158	NM_000143.4(FH):c.958G>T (p.Ala320Ser)	FH (A320S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 959938	NM_000143.4(FH):c.240G>C (p.Lys80Asn)	FH (K80N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 957443	NM_000143.4(FH):c.378+1G>A	FH	Single nucleotide variant (splice donor variant)	Fumarase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 957362	NM_000143.4(FH):c.181A>C (p.Lys61Gln)	FH (K61Q)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 957086	NM_000143.4(FH):c.452T>C (p.Met151Thr)	FH (M151T)	Single nucleotide variant (missense variant)	Fumarase deficiency +1 more	GUncertain significance
Select item 956825	NM_000143.4(FH):c.905G>A (p.Gly302Asp)	FH (G302D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 950816	NM_000143.4(FH):c.1262G>T (p.Arg421Met)	FH (R421M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 945438	NM_000143.4(FH):c.163G>A (p.Asp55Asn)	FH (D55N)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 945217	NM_000143.4(FH):c.1108+1G>A	FH	Single nucleotide variant (splice donor variant)	Fumarase deficiency +1 more	GPathogenic
Select item 945116	NM_000143.4(FH):c.410C>T (p.Pro137Leu)	FH (P137L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 940083	NM_000143.4(FH):c.405T>G (p.His135Gln)	FH (H135Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 935590	NM_000143.4(FH):c.44T>C (p.Val15Ala)	FH (V15A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 935254	NM_000143.4(FH):c.1390+6T>C	FH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 931415	NM_000143.4(FH):c.1158_1160del (p.Gln386_Val387delinsHis)	FH	Deletion (inframe_indel)	Fumarase deficiency	GLikely pathogenic
Select item 877068	NM_000143.4(FH):c.*211G>C	FH	Single nucleotide variant (3 prime UTR variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GUncertain significance
Select item 875347	NM_000143.3(FH):c.-57C>G	FH	Single nucleotide variant	Hereditary leiomyomatosis and renal cell cancer +2 more	GConflicting classifications of pathogenicity
Select item 875260	NM_000143.4(FH):c.738+14A>G	FH	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874436	NM_000143.4(FH):c.-14G>C	FH	Single nucleotide variant (5 prime UTR variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GUncertain significance
Select item 864859	NM_000143.4(FH):c.1169A>G (p.Asn390Ser)	FH (N390S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 862088	NM_000143.4(FH):c.42C>A (p.Leu14=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 856040	NM_000143.4(FH):c.784A>G (p.Ile262Val)	FH (I262V)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 855136	NM_000143.4(FH):c.555+3C>A	FH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 850312	NM_000143.4(FH):c.602T>C (p.Ile201Thr)	FH (I201T)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 847010	NM_000143.4(FH):c.378+6A>G	FH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 840406	NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup)	FH	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 839395	NM_000143.4(FH):c.1194C>T (p.Gly398=)	FH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 837796	NM_000143.4(FH):c.28C>T (p.Arg10Cys)	FH (R10C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 834130	NM_000143.4(FH):c.1474C>G (p.Leu492Val)	FH (L492V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 833143	NC_000001.11:g.(?_241497818)_(241502580_?)del	FH	Deletion	not provided	GPathogenic
Select item 832829	NC_000001.10:g.(?_241661128)_(242034263_?)dup	CHML, EXO1 +4 more	Duplication	Fumarase deficiency	GUncertain significance
Select item 832434	NC_000001.11:g.(?_241505993)_(241506183_?)del	FH	Deletion	Fumarase deficiency	GPathogenic
Select item 831850	NC_000001.10:g.(?_241661128)_(242034263_?)del	CHML, EXO1 +4 more	Deletion	Fumarase deficiency	GPathogenic
Select item 831714	NC_000001.10:g.(?_241661108)_(242431558_?)del	CHML, EXO1 +6 more	Deletion	Fumarase deficiency	GPathogenic
Select item 831658	NC_000001.11:g.(?_241519581)_(241519732_?)del	FH	Deletion	Fumarase deficiency	GPathogenic
Select item 827167	NM_000143.4(FH):c.763G>A (p.Val255Ile)	FH (V255I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 827021	NM_000143.4(FH):c.73G>A (p.Ala25Thr)	FH (A25T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 826631	NM_000143.4(FH):c.67G>A (p.Ala23Thr)	FH (A23T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 826506	NM_000143.4(FH):c.65T>G (p.Leu22Ter)	FH (L22*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 826108	NM_000143.4(FH):c.59C>T (p.Ala20Val)	FH (A20V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 825940	NM_000143.4(FH):c.574C>T (p.Pro192Ser)	FH (P192S)	Single nucleotide variant (missense variant)	Fumarase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 824791	NM_000143.4(FH):c.431G>A (p.Gly144Glu)	FH (G144E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity

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