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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOTCH3
(Y2244*)
Single nucleotide variant
(nonsense)
Lateral meningocele syndrome
GPathogenic
NOTCH3
(A2233fs)
Duplication
(frameshift variant)
Lateral meningocele syndrome
+1 more
GPathogenic
NOTCH3
(Y2221*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
NOTCH3
(A2167fs)
Deletion
(frameshift variant)
Lateral meningocele syndrome
Gnot provided
NOTCH3
(G2154fs)
Deletion
(frameshift variant)
Lateral meningocele syndrome
GPathogenic
NOTCH3
(K2083*)
Single nucleotide variant
(nonsense)
Lateral meningocele syndrome
GPathogenic
NOTCH3
(R1006C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
NOTCH3
(R544C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
NOTCH3
(R133C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
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