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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP1B
(E586fs +1 more)
Deletion
(frameshift variant)
Periventricular nodular heterotopia 9
+4 more
GPathogenic; risk factor
MAP1B
(E1032* +1 more)
Single nucleotide variant
(nonsense)
Periventricular nodular heterotopia 9
+5 more
GPathogenic; risk factor
MAP1B
(R1538* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
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