ClinVar for MedGen (Select 5276) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561195	NG_008845.2:g.6725GAA[(200_900)]	LOC108510657, FXN	Microsatellite	Friedreich ataxia +1 more	GPathogenic
Select item 3985	NM_000144.5(FXN):c.157del (p.Arg53fs)	FXN, LOC130001862 (R53fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3984	NM_000144.5(FXN):c.517T>G (p.Trp173Gly)	FXN (W173G)	Single nucleotide variant (missense variant +1 more)	Friedreich ataxia	GLikely pathogenic
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
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 3981	NM_000144.5(FXN):c.460A>T (p.Ile154Phe)	FXN (I154F)	Single nucleotide variant (missense variant)	Friedreich ataxia 1	GPathogenic
Select item 3980	NM_000144.5(FXN):c.385-2A>G	FXN	Single nucleotide variant (splice acceptor variant)	Friedreich ataxia	GPathogenic
Select item 3979	NM_000144.5(FXN):c.317T>G (p.Leu106Ter)	FXN (L106*)	Single nucleotide variant (nonsense)	Friedreich ataxia	GPathogenic

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