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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH3
(R153H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH3
(R133C)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+5 more
GPathogenic/Likely pathogenic
NOTCH3
(G131S)
Single nucleotide variant
(missense variant)
NOTCH3-related disorder
+2 more
GConflicting classifications of pathogenicity
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