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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BEST1
(A352T +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
BEST1
(L481fs +4 more)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity