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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AUH
Deletion
(splice acceptor variant)
3-methylglutaconic aciduria type 1
+1 more
GLikely pathogenic
AUH
(R197* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
AUH, LOC130002059
(G66fs)
Deletion
(frameshift variant +1 more)
3-methylglutaconic aciduria type 1
GPathogenic
AUH
Deletion
not specified
GUncertain significance
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