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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRIT1
(Q335fs +2 more)
Microsatellite
(frameshift variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
(I225fs +2 more)
Microsatellite
(frameshift variant)
Cerebral cavernous malformation
GPathogenic
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
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