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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARMS2, HTRA1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
HTRA1, ARMS2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ARMS2, HTRA1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
HTRA1
(A252T)
Single nucleotide variant
(missense variant)
CARASIL syndrome
GPathogenic
HTRA1
(R274Q)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HTRA1
(P285L)
Single nucleotide variant
(missense variant)
HTRA1-related cerebral small vessel disease
+2 more
GConflicting classifications of pathogenicity
HTRA1
(G295R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HTRA1
(V297M)
Single nucleotide variant
(missense variant)
CARASIL syndrome
GPathogenic
HTRA1
(R302*)
Single nucleotide variant
(nonsense)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
+1 more
GPathogenic/Likely pathogenic
HTRA1
(L364P)
Single nucleotide variant
(missense variant)
CARASIL syndrome
Gnot provided
HTRA1
(R370*)
Single nucleotide variant
(nonsense)
HTRA1-related cerebral small vessel disease
+1 more
GPathogenic/Likely pathogenic
CARASIL syndrome
GPathogenic
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