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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A2, COL4A2-AS1
(G1326R)
Single nucleotide variant
(missense variant)
Porencephaly 2
+1 more
GUncertain significance
COL4A2, COL4A2-AS1
(Q1422*)
Single nucleotide variant
(nonsense)
Porencephaly 2
GUncertain significance