ClinVar for MedGen (Select 353771) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379253	NM_000143.4(FH):c.268-1_274delinsTTAAA	FH	Indel (splice acceptor variant)	Hereditary leiomyomatosis and renal cell cancer	GLikely pathogenic
Select item 3379055	NM_000143.4(FH):c.-15A>T	FH	Single nucleotide variant (5 prime UTR variant)	Hereditary leiomyomatosis and renal cell cancer	GLikely benign
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 3362427	NM_000143.4(FH):c.1043G>A (p.Gly348Asp)	FH (G348D)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer	GLikely pathogenic
Select item 3336019	NM_000143.4(FH):c.251_267+7del	FH	Deletion (splice donor variant)	Hereditary leiomyomatosis and renal cell cancer	GPathogenic
Select item 3254363	NM_000143.4(FH):c.1432_1433delinsG (p.Asn478fs)	FH (N478fs)	Indel (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer	GPathogenic
Select item 2674008	NM_000143.4(FH):c.233dup (p.Asn78fs)	FH (N78fs)	Duplication (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer	GPathogenic
Select item 2673433	NM_000143.4(FH):c.415del (p.Val139fs)	FH (V139fs)	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer	GPathogenic
Select item 2673430	NM_000143.4(FH):c.587_593del (p.His196fs)	FH (H196fs)	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer	GPathogenic
Select item 2673427	NM_000143.4(FH):c.1477dup (p.Thr493fs)	FH (T493fs)	Duplication (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer	GPathogenic
Select item 2673385	NM_000143.4(FH):c.1236+2T>A	FH	Single nucleotide variant (splice donor variant)	Hereditary leiomyomatosis and renal cell cancer	GLikely pathogenic
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 2573255	NM_000143.4(FH):c.1127_1128del (p.Gln376fs)	FH (Q376fs)	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer	GPathogenic
Select item 2506143	NM_000143.4(FH):c.1002T>G (p.Ser334Arg)	FH (S334R)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer	GLikely pathogenic
Select item 2503792	NM_000143.4(FH):c.954_956dup (p.Asp319_Ala320insAsp)	FH	Duplication (inframe_insertion +1 more)	Hereditary leiomyomatosis and renal cell cancer	GLikely pathogenic
Select item 2190599	NM_000143.4(FH):c.379-17T>C	FH	Single nucleotide variant (intron variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GBenign/Likely benign
Select item 1809689	NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCA	FH	Insertion (intron variant)	Fumarase deficiency +1 more	GLikely benign
Select item 1803287	NM_000143.4(FH):c.1064A>T (p.Glu355Val)	FH (E355V)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer	GLikely pathogenic
Select item 1765675	NM_000143.4(FH):c.907_910del (p.Pro304fs)	FH (P304fs)	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic
Select item 1757309	NM_000143.4(FH):c.712G>C (p.Asp238His)	FH (D238H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1710970	NM_000143.4(FH):c.1250_1251insTAATGTGT (p.Leu417fs)	FH (L417fs)	Microsatellite (frameshift variant +1 more)	Hereditary leiomyomatosis and renal cell cancer	GLikely pathogenic
Select item 1709223	NM_000143.4(FH):c.994G>C (p.Ala332Pro)	FH (A332P)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer	GLikely pathogenic
Select item 1709012	NM_000143.4(FH):c.1056_1091dup (p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluProGly)	FH	Duplication (inframe_insertion)	Hereditary leiomyomatosis and renal cell cancer	GUncertain significance
Select item 1696414	NM_000143.4(FH):c.1237-11C>G	FH	Single nucleotide variant (intron variant)	Hereditary leiomyomatosis and renal cell cancer	GLikely pathogenic
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 1691284	NM_000143.4(FH):c.936T>G (p.Phe312Leu)	FH (F312L)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GPathogenic/Likely pathogenic
Select item 1665589	NM_000143.4(FH):c.1283T>C (p.Val428Ala)	FH (V428A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1591135	NM_000143.4(FH):c.556-12A>C	FH	Single nucleotide variant (intron variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GBenign/Likely benign
Select item 1577139	NM_000143.4(FH):c.1391-15T>C	FH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1523717	NM_000143.4(FH):c.934T>G (p.Phe312Val)	FH (F312V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 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 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 1387156	NM_000143.4(FH):c.1478del (p.Thr493fs)	FH (T493fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1309868	NM_000143.4(FH):c.772G>A (p.Ala258Thr)	FH (A258T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1004896	NM_000143.4(FH):c.1347G>C (p.Met449Ile)	FH (M449I)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GConflicting classifications of pathogenicity
Select item 960893	NM_000143.4(FH):c.738+1G>A	FH	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 958622	NM_000143.4(FH):c.824_827dup (p.Thr277fs)	FH (T277fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 933195	NM_000143.4(FH):c.224del (p.Ser75fs)	FH (S75fs)	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer	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 859883	NM_000143.4(FH):c.379-1G>C	FH	Single nucleotide variant (splice acceptor variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 858651	NM_000143.4(FH):c.267A>G (p.Pro89=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 843573	NM_000143.4(FH):c.1084G>A (p.Glu362Lys)	FH (E362K)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 827768	NM_000143.4(FH):c.893_904+7del	FH	Deletion (splice donor variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GPathogenic/Likely pathogenic
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 821568	NM_000143.4(FH):c.260G>A (p.Arg87His)	FH (R87H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 818688	NM_000143.4(FH):c.1240A>T (p.Lys414Ter)	FH (K414*)	Single nucleotide variant (nonsense)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic
Select item 743412	NM_000143.4(FH):c.267+8G>A	FH	Single nucleotide variant (intron variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GBenign/Likely benign
Select item 689438	Single allele	CHML, CHRM3 +12 more	Deletion	Hereditary leiomyomatosis and renal cell cancer +1 more	GPathogenic
Select item 654446	NM_000143.4(FH):c.739-2A>G	FH	Single nucleotide variant (splice acceptor variant)	Fumarase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 654367	NM_000143.4(FH):c.415G>A (p.Val139Met)	FH (V139M)	Single nucleotide variant (missense variant)	Ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 653197	NM_000143.4(FH):c.352A>G (p.Asn118Asp)	FH (N118D)	Single nucleotide variant (missense variant)	Fumarase deficiency +3 more	GUncertain significance
Select item 646748	NM_000143.4(FH):c.578C>T (p.Thr193Ile)	FH (T193I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 579514	NM_000143.4(FH):c.1390+2T>C	FH	Single nucleotide variant (splice donor variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GConflicting classifications of pathogenicity
Select item 576558	NM_000143.4(FH):c.201T>G (p.Tyr67Ter)	FH (Y67*)	Single nucleotide variant (nonsense)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic
Select item 576345	NM_000143.4(FH):c.353del (p.Asn118fs)	FH (N118fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 569195	NM_000143.4(FH):c.301_319del (p.Arg101fs)	FH (R101fs)	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic
Select item 566507	NM_000143.4(FH):c.1354T>A (p.Ser452Thr)	FH (S452T)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GUncertain significance
Select item 529833	NM_000143.4(FH):c.379-7dup	FH	Duplication (intron variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GBenign/Likely benign
Select item 529824	NM_000143.4(FH):c.41T>C (p.Leu14Pro)	FH (L14P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 529814	NM_000143.4(FH):c.1447A>C (p.Lys483Gln)	FH (K483Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 529807	NM_000143.4(FH):c.977G>A (p.Gly326Glu)	FH (G326E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 529804	NM_000143.4(FH):c.999C>A (p.Cys333Ter)	FH (C333*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 523402	NM_001083603.3(PTCH1):c.109del (p.Cys37fs)	PTCH1 (C37fs)	Deletion (5 prime UTR variant +1 more)	Uterine leiomyoma +1 more	GUncertain significance
Select item 501651	NM_000143.4(FH):c.1520T>C (p.Leu507Pro)	FH (L507P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 496849	NM_000143.4(FH):c.904+47G>A	FH	Single nucleotide variant (intron variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GBenign/Likely benign
Select item 485563	NM_000143.4(FH):c.194A>T (p.Asp65Val)	FH (D65V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 480832	NM_000143.4(FH):c.805A>G (p.Ile269Val)	FH (I269V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 460382	NM_000143.4(FH):c.917T>C (p.Val306Ala)	FH (V306A)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GUncertain significance
Select item 460381	NM_000143.4(FH):c.911C>G (p.Pro304Arg)	FH (P304R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 460359	NM_000143.4(FH):c.4T>C (p.Tyr2His)	FH (Y2H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 460353	NM_000143.4(FH):c.382G>A (p.Ala128Thr)	FH (A128T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 460347	NM_000143.4(FH):c.193G>A (p.Asp65Asn)	FH (D65N)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 460344	NM_000143.4(FH):c.1468G>C (p.Gly490Arg)	FH (G490R)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GUncertain significance
Select item 460342	NM_000143.4(FH):c.1408A>G (p.Lys470Glu)	FH (K470E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 460340	NM_000143.4(FH):c.1292C>T (p.Thr431Ile)	FH (T431I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 450623	NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer)	FH	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 422542	NM_000143.4(FH):c.1294_1336dup (p.Asn446fs)	FH (N446fs)	Duplication (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic
Select item 422293	NM_000143.4(FH):c.504del (p.Glu168fs)	FH (E168fs)	Deletion (frameshift variant)	Fumarase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 419237	NM_000143.4(FH):c.268-2A>G	FH	Single nucleotide variant (splice acceptor variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GConflicting classifications of pathogenicity
Select item 418591	NM_000143.4(FH):c.1237-7C>T	FH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 413613	NM_000143.4(FH):c.1109-7C>T	FH	Single nucleotide variant (intron variant)	Fumarase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 413607	NM_000143.4(FH):c.1308G>A (p.Val436=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 405939	NM_000143.4(FH):c.1157A>G (p.Gln386Arg)	FH (Q386R)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 405936	NM_000143.4(FH):c.259C>T (p.Arg87Cys)	FH (R87C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 405934	NM_000143.4(FH):c.302G>A (p.Arg101Gln)	FH (R101Q)	Single nucleotide variant (missense variant)	Fumarase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 405927	NM_000143.4(FH):c.267+1G>A	FH	Single nucleotide variant (splice donor variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 405926	NM_000143.4(FH):c.556-4A>G	FH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 405911	NM_000143.4(FH):c.655G>A (p.Asp219Asn)	FH (D219N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 405909	NM_000143.4(FH):c.1391-1G>A	FH	Single nucleotide variant (splice acceptor variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GPathogenic/Likely pathogenic
Select item 405883	NM_000143.4(FH):c.204T>A (p.Tyr68Ter)	FH (Y68*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 393582	NM_000143.4(FH):c.1469del (p.Gly490fs)	FH (G490fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 393581	NM_000143.4(FH):c.1298_1340dup (p.Met449fs)	FH (M449fs)	Duplication (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer	GPathogenic
Select item 393580	NM_000143.4(FH):c.1209del (p.Phe403fs)	FH (F403fs)	Deletion (frameshift variant)	Fumarase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 393579	NM_000143.4(FH):c.1138dup (p.Met380fs)	FH (M380fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 393578	NM_000143.4(FH):c.1118A>G (p.Asn373Ser)	FH (N373S)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GConflicting classifications of pathogenicity

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