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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTR6, BLTP3B
+16 more
Copy number gain
See cases
GPathogenic
SCYL2
(L149P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCYL2
(S240A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCYL2
Duplication
(nonsense)
not provided
GUncertain significance
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