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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASNS, CZ1P-ASNS
(V489I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ASNS, CZ1P-ASNS
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+2 more
GLikely pathogenic
ASNS, CZ1P-ASNS
(R321H +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
(F362V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ASNS, CZ1P-ASNS
(M207V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ASNS, CZ1P-ASNS
(Q10* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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