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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DLL1, LOC126859913
(E673fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
+1 more
GPathogenic/Likely pathogenic
DLL1
(R509*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
+2 more
GPathogenic
DLL1
(E498*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
DLL1
(C77*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
DLL1
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
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