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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DGUOK, DGUOK-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
DGUOK, DGUOK-AS1
(N253S +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DGUOK, DGUOK-AS1
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
DGUOK, DGUOK-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
+3 more
GBenign
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