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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PURA
(K97E)
Single nucleotide variant
(missense variant)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
+5 more
GPathogenic
PURA
(R199P)
Single nucleotide variant
(missense variant)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
+1 more
GPathogenic/Likely pathogenic
PURA
(F233del)
Microsatellite
(inframe_deletion)
PURA Syndrome
+4 more
GPathogenic/Likely pathogenic
PURA
(R245P)
Single nucleotide variant
(missense variant)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Gnot provided
PURA
(F271del)
Deletion
(inframe_deletion)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
+1 more
GPathogenic
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