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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH3
(V2021M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
NOTCH3
(R2015I)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
NOTCH3
(A1852T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NOTCH3
(P698R)
Single nucleotide variant
(missense variant)
Stroke disorder
GUncertain significance
NOTCH3
(R592S)
Single nucleotide variant
(missense variant)
NOTCH3-related condition
+2 more
GConflicting classifications of pathogenicity
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
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