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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENG
(S461N +1 more)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GUncertain significance
ENG
(R39K)
Single nucleotide variant
(missense variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 1
+2 more
GUncertain significance