"Ambry Genetics"[submitter] AND "FXN"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 263606	NM_000144.5(FXN):c.11_12del (p.Leu4fs)	FXN, LOC130001862 (L4fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2475754	NM_000144.5(FXN):c.14G>C (p.Gly5Ala)	LOC130001862, FXN (G5A)	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 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 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 1748562	NM_000144.5(FXN):c.55G>A (p.Ala19Thr)	LOC130001862, FXN (A19T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 994882	NM_000144.5(FXN):c.70C>T (p.Leu24Phe)	FXN, LOC130001862 (L24F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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 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)	LOC130001862, FXN (R40C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 804817	NM_000144.5(FXN):c.131C>A (p.Thr44Asn)	FXN, LOC130001862 (T44N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 447361	NM_000144.5(FXN):c.162C>T (p.Arg54=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
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)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 263542	NM_000144.5(FXN):c.226A>G (p.Met76Val)	FXN (M76V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 804819	NM_000144.5(FXN):c.323_324delinsTT (p.Glu108Val)	FXN (E108V)	Indel (missense variant)	Inborn genetic diseases +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 2461756	NM_000144.5(FXN):c.412G>A (p.Gly138Arg)	FXN (G138R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1742441	NM_000144.5(FXN):c.468A>G (p.Leu156=)	FXN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GBenign
Select item 264460	NM_000144.5(FXN):c.534C>T (p.Asp178=)	FXN (T181M)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2611627	NM_000144.5(FXN):c.616T>A (p.Ser206Thr)	FXN (S206T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 197632	NM_000144.5(FXN):c.626A>G (p.Asp209Gly)	FXN (D209G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign

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Items: 29