"Ambry Genetics"[submitter] AND "PRPS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2477830	NM_002765.5(PRPS2):c.105C>A (p.Phe35Leu)	PRPS2 (F35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603531	NM_002765.5(PRPS2):c.306+6A>G	PRPS2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2285173	NM_002765.5(PRPS2):c.611G>A (p.Arg204Gln)	PRPS2 (R204Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219238	NM_002765.5(PRPS2):c.685A>G (p.Ile229Val)	PRPS2 (I232V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478700	NM_002765.5(PRPS2):c.754A>C (p.Ile252Leu)	LOC126863210, PRPS2 (I255L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310402	NM_002765.5(PRPS2):c.805G>A (p.Val269Ile)	LOC126863210, PRPS2 (V269I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar