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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COLGALT1
(E129K)
Single nucleotide variant
(missense variant)
Brain small vessel disease 3
GUncertain significance
COLGALT1
(I171M)
Single nucleotide variant
(missense variant)
Brain small vessel disease 3
GUncertain significance
COLGALT1
(M452T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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