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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH1
(P2514fs)
Deletion
(frameshift variant)
not provided
+3 more
GUncertain significance
OOncogenic
NOTCH1
(S2467L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(G2427S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(K2150R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH1
(S2141L)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(A2069T)
Single nucleotide variant
(missense variant)
Marfan syndrome
+5 more
GConflicting classifications of pathogenicity
NOTCH1
(R1940H)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+2 more
GUncertain significance
NOTCH1
(R1672C)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(S1657R)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(G1360S)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(G1353S)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(V1324L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
NOTCH1
(C1284W)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+1 more
GUncertain significance
NOTCH1
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
NOTCH1
(R938W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(R912W)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GConflicting classifications of pathogenicity
NOTCH1
(G841S)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(N816D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NOTCH1
(C788F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOTCH1
(E694K)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
NOTCH1
(G690R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
NOTCH1
(M674T)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+1 more
GUncertain significance
NOTCH1
(R448*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
NOTCH1
(P407L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity; other
NOTCH1
(T232N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 3
+1 more
GConflicting classifications of pathogenicity
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