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Links from MedGen

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH3
(C206Y)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
NOTCH3
(N1179S)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+1 more
GUncertain significance
NOTCH3
(L2137fs)
Microsatellite
(frameshift variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+2 more
GLikely pathogenic
NOTCH3
(G1058C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
NOTCH3
(L2137fs)
Microsatellite
(frameshift variant)
Lateral meningocele syndrome
GPathogenic/Likely pathogenic
NOTCH3
Single nucleotide variant
(intron variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+1 more
GUncertain significance
NOTCH3
(G595S)
Single nucleotide variant
(missense variant)
Lateral meningocele syndrome
+3 more
GUncertain significance
NOTCH3
Duplication
(intron variant)
Lateral meningocele syndrome
+3 more
GLikely benign
NOTCH3
(A40V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NOTCH3
(R728H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NOTCH3
(P1521R)
Single nucleotide variant
(missense variant)
Lateral meningocele syndrome
GUncertain significance
LOC130063807, NOTCH3
(P1388L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NOTCH3
(T987S)
Single nucleotide variant
(missense variant)
Myofibromatosis, infantile, 2
+3 more
GConflicting classifications of pathogenicity
NOTCH3
(H2227Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NOTCH3
Single nucleotide variant
(synonymous variant)
Myofibromatosis, infantile, 2
+3 more
GLikely benign
NOTCH3
(P120L)
Single nucleotide variant
(missense variant)
Myofibromatosis, infantile, 2
+3 more
GConflicting classifications of pathogenicity
NOTCH3
Single nucleotide variant
(intron variant)
Lateral meningocele syndrome
+2 more
GBenign
NOTCH3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
NOTCH3
(P684L)
Single nucleotide variant
(missense variant)
Myofibromatosis, infantile, 2
+3 more
GConflicting classifications of pathogenicity
NOTCH3
Single nucleotide variant
(synonymous variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+5 more
GConflicting classifications of pathogenicity
NOTCH3
Single nucleotide variant
(3 prime UTR variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+2 more
GUncertain significance
NOTCH3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
NOTCH3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
NOTCH3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
NOTCH3
Single nucleotide variant
(intron variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+2 more
GBenign
NOTCH3
Single nucleotide variant
(intron variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+2 more
GBenign
MIR6795, NOTCH3
Single nucleotide variant
(non-coding transcript variant +1 more)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+2 more
GBenign
NOTCH3
Single nucleotide variant
(intron variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+2 more
GBenign
NOTCH3
(R449C)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+3 more
GLikely pathogenic
NOTCH3
(R1076H)
Single nucleotide variant
(missense variant)
Lateral meningocele syndrome
+3 more
GUncertain significance
NOTCH3
(R2207W)
Single nucleotide variant
(missense variant)
NOTCH3-related disorder
+5 more
GConflicting classifications of pathogenicity
NOTCH3
(R2174Q)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+3 more
GUncertain significance
NOTCH3
Single nucleotide variant
(synonymous variant)
NOTCH3-related disorder
+4 more
GLikely benign
NOTCH3
(R1231H)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+3 more
GLikely benign
NOTCH3
Single nucleotide variant
(intron variant)
Myofibromatosis, infantile, 2
+4 more
GLikely benign
NOTCH3
Single nucleotide variant
(synonymous variant)
Lateral meningocele syndrome
+3 more
GLikely benign
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
NOTCH3
Single nucleotide variant
(synonymous variant)
Myofibromatosis, infantile, 2
+3 more
GLikely benign
NOTCH3
(P2210fs)
Duplication
(frameshift variant)
Lateral meningocele syndrome
GPathogenic
NOTCH3
(R13del)
Microsatellite
(inframe_deletion)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+3 more
GUncertain significance
NOTCH3
(C49G)
Single nucleotide variant
(missense variant)
Myofibromatosis, infantile, 2
+3 more
GPathogenic
NOTCH3
(R544C)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+4 more
GPathogenic/Likely pathogenic
NOTCH3
(R207C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NOTCH3
(C146Y)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
NOTCH3
(R141C)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+4 more
GPathogenic
NOTCH3
(C1099Y)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
NOTCH3
(Y1021C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
NOTCH3
(R558C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
NOTCH3
(R607C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
NOTCH3
(H170R)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
NOTCH3
(A2223V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
NOTCH3
Single nucleotide variant
(synonymous variant)
Lateral meningocele syndrome
+3 more
GBenign
NOTCH3
(V1952M)
Single nucleotide variant
(missense variant)
Myofibromatosis, infantile, 2
+4 more
GBenign/Likely benign
NOTCH3
Single nucleotide variant
(intron variant)
Lateral meningocele syndrome
+3 more
GBenign
NOTCH3
Single nucleotide variant
(intron variant)
Lateral meningocele syndrome
+3 more
GBenign
NOTCH3
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
NOTCH3
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
NOTCH3
(L1518M)
Single nucleotide variant
(missense variant)
Myofibromatosis, infantile, 2
+4 more
GBenign/Likely benign
NOTCH3
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
NOTCH3
Single nucleotide variant
(intron variant)
Myofibromatosis, infantile, 2
+4 more
GBenign/Likely benign
NOTCH3
(R767H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
NOTCH3
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
NOTCH3
(R680H)
Single nucleotide variant
(missense variant)
Myofibromatosis, infantile, 2
+4 more
GBenign/Likely benign
NOTCH3
Single nucleotide variant
(synonymous variant)
Myofibromatosis, infantile, 2
+4 more
GBenign/Likely benign
NOTCH3
(S497L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
NOTCH3
(P496L)
Single nucleotide variant
(missense variant)
Myofibromatosis, infantile, 2
+4 more
GBenign/Likely benign
NOTCH3
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
NOTCH3
(A2167fs)
Deletion
(frameshift variant)
Lateral meningocele syndrome
Gnot provided
NOTCH3
(Y2221*)
Single nucleotide variant
(nonsense)
Lateral meningocele syndrome
+1 more
GPathogenic
NOTCH3
(Y2244*)
Single nucleotide variant
(nonsense)
Lateral meningocele syndrome
GPathogenic
NOTCH3
(A2233fs)
Duplication
(frameshift variant)
Lateral meningocele syndrome
+1 more
GPathogenic
NOTCH3
(G2154fs)
Deletion
(frameshift variant)
Lateral meningocele syndrome
GPathogenic
NOTCH3
(K2083*)
Single nucleotide variant
(nonsense)
Lateral meningocele syndrome
GPathogenic
NOTCH3
(Q151E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NOTCH3
(A1020P)
Single nucleotide variant
(missense variant)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
+4 more
GBenign
NOTCH3
(R133C)
Single nucleotide variant
(missense variant)
NOTCH3-related disorder
+5 more
GPathogenic/Likely pathogenic
NOTCH3
(R169C)
Single nucleotide variant
(missense variant)
NOTCH3-related disorder
+4 more
GPathogenic
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