"Blueprint Genetics"[submitter] AND "PRPS1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446163	NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp)	PRPS1 (R214W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866872	NM_002764.4(PRPS1):c.827C>T (p.Pro276Leu)	PRPS1 (P72L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic