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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JAG1
(R184H)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
+4 more
GPathogenic
JAG1
(C78S)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
Gnot provided
JAG1
(C78Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
JAG1
(C78G)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
Gnot provided
JAG1
(C78R)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
Gnot provided
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