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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH3
(R1006C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
NOTCH3
(R544C)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+4 more
GPathogenic/Likely pathogenic
NOTCH3
(R133C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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