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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC2A1
(Q242*)
Single nucleotide variant
(nonsense)
Encephalopathy due to GLUT1 deficiency
+2 more
GPathogenic
SLC2A1
(M96fs)
Deletion
(frameshift variant)
Intellectual disability
GLikely pathogenic