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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A2
Single nucleotide variant
(intron variant)
Stroke disorder
+2 more
GUncertain significance
COL4A2
(G729R)
Single nucleotide variant
(missense variant)
Optic nerve hypoplasia
+4 more
GConflicting classifications of pathogenicity
COL4A2
(K907T)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
COL4A2, COL4A2-AS1
Single nucleotide variant
(synonymous variant)
See cases
+1 more
GLikely benign
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