| | | Single nucleotide variant (missense variant) | Lesch-Nyhan syndrome | |
| | | Deletion | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Lesch-Nyhan syndrome | |
| | HPRT1, LOC107032760 +1 more | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Insertion (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | HPRT1, LOC107032760 +1 more | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | HPRT1, LOC107032760 +1 more | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | HPRT1, LOC107032760 +1 more | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Lesch-Nyhan syndrome +1 more | |
| | | Duplication (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Microsatellite (frameshift variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Insertion (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Deletion (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | LOC129929047, HPRT1 +1 more (V8I) | Single nucleotide variant (missense variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | HPRT1, LOC107032760 +1 more | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Insertion (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | HPRT1, LOC107032760 +1 more | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Insertion (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | HPRT1, LOC107032760 +1 more | Single nucleotide variant (intron variant) | Lesch-Nyhan syndrome +1 more | |
| | | Deletion (frameshift variant) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Lesch-Nyhan syndrome | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Lesch-Nyhan syndrome | |
| | | Deletion | Lesch-Nyhan syndrome +1 more | |
| | | Deletion | Lesch-Nyhan syndrome +1 more | |
| | | Duplication | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Duplication (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Deletion (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Deletion (frameshift variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Deletion (frameshift variant) | Lesch-Nyhan syndrome +1 more | |
| | | Deletion (frameshift variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Deletion (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lesch-Nyhan syndrome +1 more | |
| | | Duplication (inframe_insertion) | Lesch-Nyhan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Lesch-Nyhan syndrome | |
| | | Single nucleotide variant (missense variant) | Lesch-Nyhan syndrome +1 more | |
| | | Deletion | Lesch-Nyhan syndrome | |
| | HPRT1, LOC107032760 +1 more (M1V) | Single nucleotide variant (missense variant +1 more) | Lesch-Nyhan syndrome | |
| | | Duplication (intron variant) | Lesch-Nyhan syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Lesch-Nyhan syndrome | |
| | | Single nucleotide variant (splice donor variant) | Lesch-Nyhan syndrome | |
| | | Single nucleotide variant (splice donor variant) | Lesch-Nyhan syndrome | |
| | | Single nucleotide variant (intron variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | HPRT1-related disorder +2 more | |