Related gene-specific medical variations for Gene (Select 5631) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441795	NM_002764.4(PRPS1):c.179G>A (p.Cys60Tyr)	PRPS1 (C60Y)	Single nucleotide variant (missense variant +1 more)	Arts syndrome	GUncertain significance
Select item 2435262	NM_002764.4(PRPS1):c.292G>A (p.Asp98Asn)	PRPS1 (D98N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435261	NM_002764.4(PRPS1):c.118A>G (p.Thr40Ala)	PRPS1 (T40A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1722584	NM_002764.4(PRPS1):c.244G>C (p.Ala82Pro)	PRPS1 (A82P)	Single nucleotide variant (missense variant +1 more)	Hearing loss, X-linked 1	Gnot provided
Select item 1700710	NM_002764.4(PRPS1):c.367C>G (p.His123Asp)	PRPS1 (H123D)	Single nucleotide variant (missense variant +1 more)	Arts syndrome	Gnot provided
Select item 1690358	NM_002764.4(PRPS1):c.334G>C (p.Val112Leu)	PRPS1 (V112L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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

ClinVar