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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCM2
(S15L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CCM2
(R249H +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CCM2
(V283M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
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