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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH1
(T2466M)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
NOTCH1
(R2327Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
NOTCH1
(V2285I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
NOTCH1
(V2229M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Aortic valve disease 1
+2 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
NOTCH1-related disorder
+5 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+3 more
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
NOTCH1
(V1671I)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
NOTCH1
(R1662Q)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+1 more
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
NOTCH1
(P1390T)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+7 more
GConflicting classifications of pathogenicity
NOTCH1
(P1377S)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+4 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
NOTCH1
(V1285M)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
NOTCH1
(R1279H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
NOTCH1
(V1232M)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+2 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
NOTCH1
(G1091S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(G1041S)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
NOTCH1
(T970A)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+3 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
Aortic valve disease 1
+3 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(R912W)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+5 more
GConflicting classifications of pathogenicity
NOTCH1
(E848K)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
+3 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
NOTCH1
(E694K)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(intron variant)
not specified
+2 more
GLikely benign
NOTCH1
(P668L)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(G661S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(E601K)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(R592C)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+1 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(intron variant)
not specified
+2 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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