Related gene-specific medical variations for Gene (Select 2395) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2684199	NM_000144.5(FXN):c.623A>G (p.Lys208Arg)	FXN (K208R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2659238	NM_000144.5(FXN):c.105A>C (p.Pro35=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	not provided	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 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 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 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 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 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 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 1807211	NM_000144.5(FXN):c.483-7C>T	FXN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1807205	NM_000144.5(FXN):c.169del (p.Ser57fs)	FXN (S57fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 1807189	NM_000144.5(FXN):c.227T>G (p.Met76Arg)	FXN (M76R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 1293288	NC_000009.12:g.69099777C>T	FXN	Single nucleotide variant	not provided	GBenign
Select item 1256271	NM_000144.5(FXN):c.467T>C (p.Leu156Pro)	FXN (L156P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 1256265	NM_000144.5(FXN):c.356C>T (p.Thr119Met)	FXN (T119M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256262	NM_000144.5(FXN):c.171G>C (p.Ser57=)	FXN	Single nucleotide variant (synonymous 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 1237290	NC_000009.12:g.69100224C>A	FXN	Single nucleotide variant	not provided	GBenign
Select item 1225970	NC_000009.12:g.69099654A>G	FXN	Single nucleotide variant	not provided	GBenign
Select item 1180420	NC_000009.12:g.69099647G>A	FXN	Single nucleotide variant	not provided	GBenign
Select item 1065563	NM_000144.5(FXN):c.165+1338AAG[180]	FXN, LOC108510657	Microsatellite (intron variant)	Friedreich ataxia 1	GPathogenic
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 994884	NM_000144.5(FXN):c.-9C>G	FXN, LOC130001862	Single nucleotide variant (5 prime UTR variant)	not provided	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 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 810982	NM_000144.5(FXN):c.447G>A (p.Thr149=)	FXN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 804824	NM_000144.5(FXN):c.68C>T (p.Thr23Ile)	FXN, LOC130001862 (T23I)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 804823	NM_000144.5(FXN):c.498T>G (p.Tyr166Ter)	FXN (M169R +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
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 804818	NM_000144.5(FXN):c.163G>A (p.Ala55Thr)	FXN, LOC130001862 (A55T)	Single nucleotide variant (missense variant)	not provided	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 804267	NG_008845.2:g.6743_6746delinsGAAGGA[66]GAAG	FXN	Indel	Friedreich ataxia 1	GLikely benign
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 585887	NM_000144.5(FXN):c.165+2_165+3insTT	FXN, LOC130001862	Insertion (splice donor variant)	not provided	GLikely pathogenic
Select item 561195	NG_008845.2:g.6725GAA[(200_900)]	FXN, LOC108510657	Microsatellite	Friedreich ataxia +1 more	GPathogenic
Select item 549677	NM_000144.5(FXN):c.438C>G (p.Asn146Lys)	FXN (N146K)	Single nucleotide variant (missense variant)	Friedreich ataxia 1	GPathogenic
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 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 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 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 264451	NM_000144.5(FXN):c.118C>T (p.Arg40Cys)	LOC130001862, FXN (R40C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 263606	NM_000144.5(FXN):c.11_12del (p.Leu4fs)	FXN, LOC130001862 (L4fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 193050	NM_000144.5(FXN):c.-7G>A	LOC130001862, FXN	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 129120	NM_000144.5(FXN):c.54A>G (p.Pro18=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 3985	NM_000144.5(FXN):c.157del (p.Arg53fs)	FXN, LOC130001862 (R53fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3983	NM_000144.5(FXN):c.3G>T (p.Met1Ile)	FXN, LOC130001862 (M1I)	Single nucleotide variant (missense variant +1 more)	Friedreich ataxia 1 +1 more	GPathogenic

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Links from Gene

Items: 54