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Items: 1 to 100 of 224

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH1
Single nucleotide variant
(3 prime UTR variant)
not specified
+3 more
GBenign
NOTCH1
(A2548T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(V2536I)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
Aortic valve disease 1
+3 more
GLikely benign
NOTCH1
(P2514L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
NOTCH1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
NOTCH1
(S2467L)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+4 more
GBenign/Likely benign
NOTCH1
(P2438L)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(P2415del)
Microsatellite
(inframe_deletion)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+4 more
GBenign
NOTCH1
(L2408P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(Q2403H)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+3 more
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
NOTCH1
Single nucleotide variant
(synonymous variant)
Aortic valve disease 1
+2 more
GLikely benign
NOTCH1
(P2349L)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(A2339D)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(A2331T)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+3 more
GBenign/Likely benign
NOTCH1
(R2327Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
NOTCH1
(R2272C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+2 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GLikely benign
NOTCH1
(L2247P)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
NOTCH1
(H2246Q)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+1 more
GUncertain significance
NOTCH1
(V2229M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
NOTCH1
Single nucleotide variant
(synonymous variant)
NOTCH1-related disorder
+4 more
GLikely benign
NOTCH1
(G2195S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(S2193G)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(S2170N)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(G2152S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(G2152R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+2 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
NOTCH1-related disorder
+5 more
GBenign/Likely benign
NOTCH1
(P2133S)
Single nucleotide variant
(missense variant)
NOTCH1-related disorder
+4 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+3 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
Aortic valve disease 1
+3 more
GBenign/Likely benign
LOC126860794, NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
LOC126860794, NOTCH1
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
LOC126860794, NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOC126860794, NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+1 more
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
NOTCH1
(N1922S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Aortic valve disease 1
+3 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 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)
Aortic valve disease 1
+3 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Aortic valve disease 1
+3 more
GLikely benign
NOTCH1
(E1816G)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+1 more
GUncertain significance
NOTCH1
(M1806V)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(R1758H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GBenign/Likely benign
NOTCH1
(P1730L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(intron variant)
not provided
+4 more
GLikely benign
NOTCH1
Deletion
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NOTCH1
Deletion
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign
NOTCH1
(V1671I)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
NOTCH1
(S1651L)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+2 more
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+4 more
GConflicting classifications of pathogenicity
NOTCH1
(A1635del)
Microsatellite
(inframe_deletion)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
NOTCH1-related disorder
+6 more
GBenign/Likely benign
NOTCH1
(E1623K)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NOTCH1
(G1612D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
NOTCH1
(R1608H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
NOTCH1
(P1581L)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+3 more
GUncertain significance
NOTCH1
(P1530S)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+2 more
GUncertain significance
NOTCH1
Duplication
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GBenign
NOTCH1
(K1498E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
NOTCH1
(N1484S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(G1476S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(P1442L)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+1 more
GConflicting classifications of pathogenicity
NOTCH1
(R1438Q)
Indel
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NOTCH1
(R1413H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
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)
Aortic valve disease 1
+5 more
GConflicting classifications of pathogenicity
NOTCH1
(R1350L)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
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