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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HTRA1
(R166L)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
GPathogenic
HTRA1
(R197Q)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
GUncertain significance
HTRA1
(R302Q)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
+2 more
GPathogenic/Likely pathogenic
HTRA1
Single nucleotide variant
(splice donor variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
GLikely pathogenic
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