"Fulgent Genetics, Fulgent Genetics"[submitter] AND "HPRT1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1206274	NM_000194.3(HPRT1):c.77A>C (p.Asn26Thr)	HPRT1 (N26T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1695457	NM_000194.3(HPRT1):c.319-8_319-7dup	HPRT1	Duplication (intron variant)	Lesch-Nyhan syndrome +2 more	GLikely benign
Select item 1284446	NM_000194.3(HPRT1):c.319-7dup	HPRT1	Duplication (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +2 more	GBenign
Select item 435445	NM_000194.3(HPRT1):c.325C>A (p.Gln109Lys)	HPRT1 (Q109K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1164757	NM_000194.3(HPRT1):c.384+19A>G	HPRT1	Single nucleotide variant (intron variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GBenign/Likely benign
Select item 282685	NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile)	HPRT1 (S162I)	Single nucleotide variant (missense variant)	Lesch-Nyhan syndrome +2 more	GUncertain significance
Select item 1475177	NM_000194.3(HPRT1):c.532+1_532+2del	HPRT1	Deletion (splice donor variant)	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GLikely pathogenic

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