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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLEKHG3, SPTB
(E2289K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PLEKHG3, SPTB
(N2288S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PLEKHG3, SPTB
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PLEKHG3, SPTB
(K2253del)
Microsatellite
(inframe_deletion +1 more)
not provided
GConflicting classifications of pathogenicity
PLEKHG3, SPTB
(A2225T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
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