"3billion"[submitter] AND "PURA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526088	NM_005859.5(PURA):c.50C>A (p.Ser17Ter)	PURA (S17*)	Single nucleotide variant (nonsense)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 432233	NM_005859.5(PURA):c.159dup (p.Leu54fs)	PURA (L54fs)	Duplication (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation +2 more	GPathogenic
Select item 1526135	NM_005859.5(PURA):c.215G>A (p.Arg72His)	PURA (R72H)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 451895	NM_005859.5(PURA):c.487C>T (p.Gln163Ter)	PURA (Q163*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1320216	NM_005859.5(PURA):c.563_578del (p.Ile188fs)	PURA (I188fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 189319	NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)	PURA (F233del)	Microsatellite (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +3 more	GPathogenic/Likely pathogenic

ClinVar