"Genetic Services Laboratory, University of Chicago"[submitter] AND "P - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 436450	NM_005859.5(PURA):c.123_128dup (p.Ser43_Gly44dup)	PURA	Duplication (inframe_insertion)	not specified +2 more	GLikely benign
Select item 436451	NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup)	PURA	Microsatellite (inframe_insertion)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1119818	NM_005859.5(PURA):c.306C>T (p.Leu102=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GLikely benign
Select item 436452	NM_005859.5(PURA):c.504_505delinsTT (p.Arg169Cys)	PURA (R169C)	Indel (missense variant)	not specified	GUncertain significance
Select item 436448	NM_005859.5(PURA):c.582G>T (p.Gly194=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GLikely benign
Select item 436449	NM_005859.5(PURA):c.621C>T (p.Asp207=)	PURA	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity

ClinVar