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Links from MedGen

Items: 1 to 100 of 685

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH1
(G310R)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
GUncertain significance
NOTCH1
(N760fs)
Deletion
(frameshift variant)
Adams-Oliver syndrome 5
+1 more
GPathogenic
NOTCH1
(Q2307*)
Single nucleotide variant
(nonsense)
Aortic valve disease 1
GPathogenic
NOTCH1
(R1784Q)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
GUncertain significance
NOTCH1
Single nucleotide variant
(intron variant)
Aortic valve disease 1
GUncertain significance
NOTCH1
(V1976D)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
GLikely pathogenic
NOTCH1
(C704*)
Single nucleotide variant
(nonsense)
Aortic valve disease 1
GLikely pathogenic
NOTCH1
(G1975S)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
GUncertain significance
NOTCH1
(C1536W)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
GUncertain significance
NOTCH1
(C1094*)
Single nucleotide variant
(nonsense)
Aortic valve disease 1
+1 more
GLikely pathogenic
NOTCH1
(Q2366*)
Single nucleotide variant
(nonsense)
Aortic valve disease 1
GLikely pathogenic
NOTCH1
(C323Y)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+1 more
GUncertain significance
NOTCH1
(E756*)
Single nucleotide variant
(nonsense)
Aortic valve disease 1
GLikely pathogenic
NOTCH1
(E1186Q)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+1 more
GUncertain significance
NOTCH1
Duplication
(splice donor variant)
Aortic valve disease 1
GUncertain significance
NOTCH1
(C514W)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
GUncertain significance
NOTCH1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NOTCH1
(I1333M)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+1 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
LOC126860794, NOTCH1
Deletion
(splice acceptor variant +1 more)
Aortic valve disease 1
GLikely pathogenic
NOTCH1
(T928M)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(G1331R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(P837R)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+3 more
GUncertain significance
NOTCH1
(R1330C)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+1 more
GConflicting classifications of pathogenicity
NOTCH1
(G1353D)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+1 more
GConflicting classifications of pathogenicity
NOTCH1
(D869N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NOTCH1
(R2087Q)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(D1808N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
Aortic valve disease 1
+3 more
GLikely benign
NOTCH1
(P1530S)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+2 more
GUncertain significance
NOTCH1
(E334K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NOTCH1, LOC130003020
(A12V)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+3 more
GUncertain significance
NOTCH1
(P1832R)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(R1234Q)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(A1278T)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+2 more
GUncertain significance
NOTCH1
(E1719K)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(V453I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(F357S)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+3 more
GUncertain significance
NOTCH1
(A2250V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
LOC126860794, NOTCH1
Single nucleotide variant
(intron variant)
Aortic valve disease 1
+2 more
GBenign
NOTCH1
(Q2376H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(T692A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
LOC130003020, NOTCH1
(A18T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
NOTCH1
(T1161M)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+2 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+2 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+3 more
GBenign/Likely benign
NOTCH1
(P1581L)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+3 more
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Aortic valve disease 1
+3 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
MIR4673, NOTCH1
Single nucleotide variant
(non-coding transcript variant +1 more)
Adams-Oliver syndrome 5
+2 more
GBenign/Likely benign
NOTCH1
(E716D)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GUncertain significance
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
LOC126860794, NOTCH1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+2 more
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Aortic valve disease 1
+3 more
GConflicting classifications of pathogenicity
NOTCH1
Single nucleotide variant
(synonymous variant)
NOTCH1-related disorder
+4 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+2 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
NOTCH1-related disorder
+3 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
+1 more
GConflicting classifications of pathogenicity
NOTCH1
(P2458T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(A1458V)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(G2261C)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(G1437R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(L1805F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(G1513S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(N1327S)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(L1848M)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+1 more
GConflicting classifications of pathogenicity
NOTCH1
(V1285L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(V584I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(A145T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity; other
NOTCH1
(A2256V)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(R1622H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NOTCH1
(I1887M)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
GUncertain significance
NOTCH1
Single nucleotide variant
(intron variant)
Aortic valve disease 1
+1 more
GConflicting classifications of pathogenicity
NOTCH1
(F357del)
Deletion
(inframe_deletion)
Aortic valve disease 1
GUncertain significance
NOTCH1
(S951G)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+1 more
GUncertain significance
NOTCH1
(Q2386R)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(R1302H)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GConflicting classifications of pathogenicity
NOTCH1
Indel
(missense variant)
Aortic valve disease 1
+3 more
GUncertain significance
NOTCH1
(A1135V)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(P668A)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(N2248K)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
NOTCH1
(Q1193H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(L2247V)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(G1892R)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+3 more
GUncertain significance
NOTCH1
(P130fs)
Deletion
(frameshift variant)
Aortic valve disease 1
GLikely pathogenic
NOTCH1
(Q2384R)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
GUncertain significance
NOTCH1
(N1587fs)
Insertion
(frameshift variant)
Adams-Oliver syndrome 5
+1 more
GLikely pathogenic
NOTCH1
(E1826K)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(P2128L)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(T984A)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+1 more
GUncertain significance
NOTCH1
(R207H)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(R592C)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+1 more
GConflicting classifications of pathogenicity
NOTCH1
(A150T)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+2 more
GConflicting classifications of pathogenicity
NOTCH1
(T988I)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+2 more
GUncertain significance
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