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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A2
(G438R)
Single nucleotide variant
(missense variant)
Porencephaly 2
+1 more
GConflicting classifications of pathogenicity
COL4A2
(G1158A)
Single nucleotide variant
(missense variant)
Porencephaly 2
GUncertain significance
COL4A2
(C1646S)
Single nucleotide variant
(missense variant)
Porencephaly 2
GLikely pathogenic
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