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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASNS, CZ1P-ASNS
(R324* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
+1 more
GConflicting classifications of pathogenicity
ASNS, CZ1P-ASNS
(R319C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
+1 more
GLikely pathogenic
ASNS, CZ1P-ASNS
(N54I +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
GUncertain significance
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