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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDOST, PINK1
+1 more
(N521T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GBenign/Likely benign
DDOST
(I422fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
DDOST
(T400I +1 more)
Single nucleotide variant
(missense variant)
DDOST-related condition
+2 more
GConflicting classifications of pathogenicity
DDOST
(Y272C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
DDOST
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
DDOST
(G200D)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
DDOST
(V187I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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