FXN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	FAM95B1, FAM95C +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001496, LOC130001497 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	ABHD17B, ACER2 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 148455	GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1	LOC130001865, LOC130001866 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 59106	GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1	APBA1, BANCR +40 more	Copy number loss	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 155686	GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3	ABHD17B, APBA1 +79 more	Copy number gain	See cases	GLikely pathogenic
Select item 155100	GRCh38/hg38 9q21.11-21.12(chr9:68802194-69342807)x3	BANCR, ENTREP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 151942	GRCh38/hg38 9q21.11(chr9:68991449-69164502)x3	FXN, LOC108510657 +11 more	Copy number gain	See cases	GUncertain significance
Select item 994884	NM_000144.5(FXN):c.-9C>G	FXN, LOC130001862	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 193050	NM_000144.5(FXN):c.-7G>A	FXN, LOC130001862	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 3983	NM_000144.5(FXN):c.3G>T (p.Met1Ile)	FXN, LOC130001862 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 263606	NM_000144.5(FXN):c.11_12del (p.Leu4fs)	LOC130001862, FXN (L4fs)	Microsatellite (frameshift variant)	Friedreich ataxia 1 +2 more	GPathogenic/Likely pathogenic
Select item 2475754	NM_000144.5(FXN):c.14G>C (p.Gly5Ala)	FXN, LOC130001862 (G5A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618139	NM_000144.5(FXN):c.34C>G (p.Leu12Val)	FXN, LOC130001862 (L12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2275885	NM_000144.5(FXN):c.41C>T (p.Ala14Val)	FXN, LOC130001862 (A14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 804821	NM_000144.5(FXN):c.41C>A (p.Ala14Glu)	FXN, LOC130001862 (A14E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2300251	NM_000144.5(FXN):c.46C>T (p.Pro16Ser)	FXN, LOC130001862 (P16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097551	NM_000144.5(FXN):c.50G>T (p.Ser17Ile)	FXN, LOC130001862 (S17I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 129120	NM_000144.5(FXN):c.54A>G (p.Pro18=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	Friedreich ataxia 1 +3 more	GBenign
Select item 1748562	NM_000144.5(FXN):c.55G>A (p.Ala19Thr)	FXN, LOC130001862 (A19T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 804824	NM_000144.5(FXN):c.68C>T (p.Thr23Ile)	FXN, LOC130001862 (T23I)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 994882	NM_000144.5(FXN):c.70C>T (p.Leu24Phe)	FXN, LOC130001862 (L24F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2541086	NM_000144.5(FXN):c.76C>T (p.Arg26Trp)	FXN, LOC130001862 (R26W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 994883	NM_000144.5(FXN):c.81C>T (p.Val27=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3280236	NM_000144.5(FXN):c.88C>A (p.Pro30Thr)	FXN, LOC130001862 (P30T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250670	NM_000144.5(FXN):c.93A>C (p.Ala31=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1807182	NM_000144.5(FXN):c.97T>G (p.Leu33Val)	FXN, LOC130001862 (L33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518531	NM_000144.5(FXN):c.97T>C (p.Leu33=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2605294	NM_000144.5(FXN):c.104C>T (p.Pro35Leu)	FXN, LOC130001862 (P35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659238	NM_000144.5(FXN):c.105A>C (p.Pro35=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515732	NM_000144.5(FXN):c.112G>A (p.Gly38Ser)	FXN, LOC130001862 (G38S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 264451	NM_000144.5(FXN):c.118C>T (p.Arg40Cys)	FXN, LOC130001862 (R40C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 374502	NM_000144.5(FXN):c.123C>T (p.Gly41=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2684198	NM_000144.5(FXN):c.125T>G (p.Leu42Arg)	FXN, LOC130001862 (L42R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256259	NM_000144.5(FXN):c.128G>C (p.Arg43Pro)	FXN, LOC130001862 (R43P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447360	NM_000144.5(FXN):c.128G>A (p.Arg43His)	FXN, LOC130001862 (R43H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 804817	NM_000144.5(FXN):c.131C>A (p.Thr44Asn)	FXN, LOC130001862 (T44N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1770332	NM_000144.5(FXN):c.133G>A (p.Asp45Asn)	FXN, LOC130001862 (D45N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1032212	NM_000144.5(FXN):c.146C>A (p.Thr49Asn)	FXN, LOC130001862 (T49N)	Single nucleotide variant (missense variant)	Friedreich ataxia 1 +1 more	GUncertain significance
Select item 2241396	NM_000144.5(FXN):c.152C>G (p.Thr51Arg)	FXN, LOC130001862 (T51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3985	NM_000144.5(FXN):c.157del (p.Arg53fs)	FXN, LOC130001862 (R53fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 447361	NM_000144.5(FXN):c.162C>T (p.Arg54=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 804818	NM_000144.5(FXN):c.163G>A (p.Ala55Thr)	FXN, LOC130001862 (A55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585887	NM_000144.5(FXN):c.165+2_165+3insTT	FXN, LOC130001862	Insertion (splice donor variant)	not provided	GLikely pathogenic
Select item 1065563	NM_000144.5(FXN):c.165+1338AAG[180]	FXN, LOC108510657	Microsatellite (intron variant)	Friedreich ataxia 1	GPathogenic
Select item 561195	NG_008845.2:g.6725GAA[(200_900)]	LOC108510657, FXN	Microsatellite	Friedreich ataxia +1 more	GPathogenic
Select item 1293281	NM_000144.5(FXN):c.166-185G>A	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1064596	NM_000144.5(FXN):c.166-5T>G	FXN	Single nucleotide variant (intron variant)	Friedreich ataxia 1	GLikely pathogenic
Select item 1807205	NM_000144.5(FXN):c.169del (p.Ser57fs)	FXN (S57fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1256262	NM_000144.5(FXN):c.171G>C (p.Ser57=)	FXN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 518668	NM_000144.5(FXN):c.171G>A (p.Ser57=)	FXN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2394972	NM_000144.5(FXN):c.178C>T (p.Arg60Cys)	FXN (R60C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 211055	NM_000144.5(FXN):c.179G>A (p.Arg60His)	FXN (R60H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1807196	NM_000144.5(FXN):c.185T>C (p.Leu62Pro)	FXN (L62P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2517329	NM_000144.5(FXN):c.200A>G (p.Asn67Ser)	FXN (N67S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 585888	NM_000144.5(FXN):c.221A>G (p.Tyr74Cys)	FXN (Y74C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 263542	NM_000144.5(FXN):c.226A>G (p.Met76Val)	FXN (M76V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1807189	NM_000144.5(FXN):c.227T>G (p.Met76Arg)	FXN (M76R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256840	NM_000144.5(FXN):c.264-70G>A	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585889	NM_000144.5(FXN):c.285T>A (p.Tyr95Ter)	FXN (Y95*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 585890	NM_000144.5(FXN):c.290G>A (p.Arg97Lys)	FXN (R97K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810383	NM_000144.5(FXN):c.299A>C (p.Glu100Ala)	FXN (E100A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585891	NM_000144.5(FXN):c.317T>C (p.Leu106Ser)	FXN (L106S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3979	NM_000144.5(FXN):c.317T>G (p.Leu106Ter)	FXN (L106*)	Single nucleotide variant (nonsense)	Friedreich ataxia	GPathogenic
Select item 804819	NM_000144.5(FXN):c.323_324delinsTT (p.Glu108Val)	FXN (E108V)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 1731615	NM_000144.5(FXN):c.345C>T (p.Asp115=)	FXN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1256265	NM_000144.5(FXN):c.356C>T (p.Thr119Met)	FXN (T119M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579062	NM_000144.5(FXN):c.357G>A (p.Thr119=)	FXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 35514	NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr)	FXN	Indel (inframe_indel)	Friedreich ataxia 1	GPathogenic
Select item 804820	NM_000144.5(FXN):c.384+8T>C	FXN	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1293283	NM_000144.5(FXN):c.384+21T>C	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235527	NM_000144.5(FXN):c.384+159C>A	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293448	NM_000144.5(FXN):c.384+198G>A	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269638	NM_000144.5(FXN):c.384+250_384+251insGG	FXN	Insertion (intron variant)	not provided	GBenign
Select item 1264065	NM_000144.5(FXN):c.384+251_384+252insTG	FXN	Insertion (intron variant)	not provided	GBenign
Select item 1241486	NM_000144.5(FXN):c.384+251_384+252insTGGATG	FXN	Insertion (intron variant)	not provided	GBenign
Select item 1225228	NM_000144.5(FXN):c.384+251A>G	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254976	NM_000144.5(FXN):c.384+255A>G	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 148399	GRCh38/hg38 9q21.11-21.12(chr9:69060538-69564402)x3	APBA1, BANCR +13 more	Copy number gain	See cases	GLikely benign
Select item 148211	GRCh38/hg38 9q21.11(chr9:69060538-69214496)x1	FXN, LOC124292588 +5 more	Copy number loss	See cases	GUncertain significance
Select item 3980	NM_000144.5(FXN):c.385-2A>G	FXN	Single nucleotide variant (splice acceptor variant)	Friedreich ataxia	GPathogenic
Select item 447362	NM_000144.5(FXN):c.385-1G>C	FXN	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3982	NM_000144.5(FXN):c.389G>T (p.Gly130Val)	FXN (G130V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2500463	NM_000144.5(FXN):c.404A>G (p.Lys135Arg)	FXN (K135R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2461756	NM_000144.5(FXN):c.412G>A (p.Gly138Arg)	FXN (G138R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1256268	NM_000144.5(FXN):c.427T>C (p.Tyr143His)	FXN (Y143H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659239	NM_000144.5(FXN):c.429T>C (p.Tyr143=)	FXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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