ClinVar for MedGen (Select 383962) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233904	NM_000144.5(FXN):c.483-12_483del	FXN	Deletion (splice acceptor variant)	Friedreich ataxia 1	GLikely pathogenic
Select item 1065563	NM_000144.5(FXN):c.165+1338AAG[180]	FXN, LOC108510657	Microsatellite (intron variant)	Friedreich ataxia 1	GPathogenic
Select item 1064596	NM_000144.5(FXN):c.166-5T>G	FXN	Single nucleotide variant (intron variant)	Friedreich ataxia 1	GLikely pathogenic
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 804267	NG_008845.2:g.6743_6746delinsGAAGGA[66]GAAG	FXN	Indel	Friedreich ataxia 1	GLikely benign
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 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=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 35514	NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr)	FXN	Indel (inframe_indel)	Friedreich ataxia 1	GPathogenic
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 3981	NM_000144.5(FXN):c.460A>T (p.Ile154Phe)	FXN (I154F)	Single nucleotide variant (missense variant)	Friedreich ataxia 1	GPathogenic