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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A1
(G397E)
Single nucleotide variant
(missense variant)
Seizure
GLikely pathogenic
COL4A1
(G121fs)
Duplication
(frameshift variant)
Abnormal cerebral morphology
GPathogenic