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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JAG1
(P1006L)
Single nucleotide variant
(missense variant)
Stroke disorder
+4 more
GConflicting classifications of pathogenicity
JAG1
(G620V)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance