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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLVAP
(Q374P)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PLVAP
(K369del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PLVAP
(T78M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABHD8, ANKLE1
+16 more
Copy number gain
See cases
GUncertain significance
PLVAP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
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