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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FXN
Deletion
(splice acceptor variant)
Friedreich ataxia 1
GLikely pathogenic
FXN, LOC108510657
Microsatellite
(intron variant)
Friedreich ataxia 1
GPathogenic
FXN
Single nucleotide variant
(intron variant)
Friedreich ataxia 1
GLikely pathogenic
FXN, LOC130001862
(T49N)
Single nucleotide variant
(missense variant)
Friedreich ataxia 1
+1 more
GUncertain significance
FXN
Indel
Friedreich ataxia 1
GLikely benign
FXN
(N146K)
Single nucleotide variant
(missense variant)
Friedreich ataxia 1
GPathogenic
FXN, LOC130001862
(L4fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FXN, LOC130001862
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
FXN
Indel
(inframe_indel)
Friedreich ataxia 1
GPathogenic
FXN, LOC130001862
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
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