"GenomeConnect, ClinGen"[submitter] AND "HPRT1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10061	NM_000194.2(HPRT1):c.170T>C (p.Met57Thr)	HPRT1 (M57T)	Single nucleotide variant (missense variant)	Lesch-nyhan syndrome, neurologic variant +1 more	GPathogenic; other
Select item 10054	NM_000194.3(HPRT1):c.609+5G>A	HPRT1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic