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Links from MedGen

Items: 1 to 100 of 2715

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH1
(G736R)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(N760fs)
Deletion
(frameshift variant)
Adams-Oliver syndrome 5
+1 more
GPathogenic
NOTCH1
Single nucleotide variant
(splice acceptor variant)
Adams-Oliver syndrome 5
GLikely pathogenic
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(E360K)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GBenign
NOTCH1
Microsatellite
(splice donor variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(A2167D)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(P686S)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(C87Y)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(P22R)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(H1921Q)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(C1271Y)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(G1394D)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(S1657C)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Deletion
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(N1484D)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(S1181F)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(G841R)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Duplication
(splice acceptor variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(G2131fs)
Deletion
(frameshift variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(A1906V)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(F1483L)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(I509M)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(S1087N)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GBenign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(S2163R)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(N257D)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GBenign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(T671I)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(P1618H)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(G1119V)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(H2207R)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(K631R)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(N1395K)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
NOTCH1
(R1946G)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
MIR4673, NOTCH1
Single nucleotide variant
(non-coding transcript variant +1 more)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(N678S)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(T1371I)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(G2317A)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(R1594W)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(R1633S)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GBenign
NOTCH1
(P2216L)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(D1223Y)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(S88G)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(A1967T)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(N2117Y)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Deletion
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(N689S)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(D566E)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
(T551I)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(G81V)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(D932N)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(C779S)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GUncertain significance
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
(G2186S)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
GLikely benign
NOTCH1
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 5
GBenign
LOC126860794, NOTCH1
Single nucleotide variant
(synonymous variant)
Adams-Oliver syndrome 5
GLikely benign
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