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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DLL1
(A371V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DLL1
(C56*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic