"GeneDx"[submitter] AND "FXN"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 263606	NM_000144.5(FXN):c.11_12del (p.Leu4fs)	LOC130001862, FXN (L4fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 129120	NM_000144.5(FXN):c.54A>G (p.Pro18=)	LOC130001862, FXN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2515732	NM_000144.5(FXN):c.112G>A (p.Gly38Ser)	FXN, LOC130001862 (G38S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 264451	NM_000144.5(FXN):c.118C>T (p.Arg40Cys)	LOC130001862, FXN (R40C)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1293281	NM_000144.5(FXN):c.166-185G>A	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
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 1256840	NM_000144.5(FXN):c.264-70G>A	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1223924	NM_000144.5(FXN):c.483-175T>G	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250027	NM_000144.5(FXN):c.483-88C>T	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222153	NM_000144.5(FXN):c.*246C>T	FXN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1180420	NC_000009.12:g.69099647G>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 1293288	NC_000009.12:g.69099777C>T	FXN	Single nucleotide variant	not provided	GBenign
Select item 1237290	NC_000009.12:g.69100224C>A	FXN	Single nucleotide variant	not provided	GBenign
Select item 253780	GRCh37/hg19 9q21.11(chr9:71395668-71944494)x3	TJP2, PABIR1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253752	GRCh37/hg19 9q21.11(chr9:71661284-71821182)x3	FXN, TJP2	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 28