NM_000194.3(HPRT1):c.143G>A (p.Arg48His)Pathogenic
Lesch-nyhan syndrome, neurologic variant|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Lesch-Nyhan syndrome|not provided|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT1-related disorder
β
β
ββ2026β Residue 48
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter)Pathogenic
Lesch-Nyhan syndrome|HPRT FUJIMI|not provided|Microcephaly|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
β
β
ββ2025β Residue 51
NM_000194.3(HPRT1):c.486-1G>APathogenic
not provided|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|Thyroid cancer, nonmedullary, 1|Nonpapillary renal cell carcinoma
β
β
ββ2025
NM_000194.3(HPRT1):c.384+1G>APathogenic
not provided|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
β
β
ββ2024
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter)Pathogenic
Lesch-Nyhan syndrome|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
β
β
ββ2024β Residue 170
NM_000194.3(HPRT1):c.212dup (p.Tyr72fs)Pathogenic
not provided|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Lesch-Nyhan syndrome|Lesch-Nyhan syndrome
β
β
ββ2024β Residue 72
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter)Pathogenic
Lesch-Nyhan syndrome|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|not provided
β
β
ββ2023β Residue 109
NM_000194.3(HPRT1):c.289_290del (p.Val97fs)Pathogenic
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Lesch-Nyhan syndrome|Lesch-Nyhan syndrome
β
β
ββ2022β Residue 97
NM_000194.3(HPRT1):c.532+1_532+2delLikely pathogenic
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Lesch-Nyhan syndrome
β
β
ββ2022
NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu)Pathogenic
HPRT NEW HAVEN|Lesch-Nyhan syndrome|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
β
βββ2025β Residue 70
NM_000194.3(HPRT1):c.238G>T (p.Asp80Tyr)Likely pathogenic
Lesch-Nyhan syndrome
β
βββ2025β Residue 80
NM_000194.3(HPRT1):c.112C>G (p.Pro38Ala)Likely pathogenic
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Lesch-Nyhan syndrome
β
βββ2025β Residue 38
NM_000194.3(HPRT1):c.42del (p.Glu14fs)Pathogenic
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Lesch-Nyhan syndrome
β
βββ2025β Residue 14
NM_000194.3(HPRT1):c.27+174G>TLikely pathogenic
Lesch-Nyhan syndrome
β
βββ2025
NM_000194.3(HPRT1):c.191C>A (p.Ala64Asp)Pathogenic
Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
β
βββ2025β Residue 64
NM_000194.3(HPRT1):c.609+1G>APathogenic
not provided
β
βββ2025
NM_000194.3(HPRT1):c.500G>T (p.Arg167Met)Likely pathogenic
not provided
β
βββ2025β Residue 167
HPRT CHERMSIDEPathogenic
Lesch-Nyhan syndrome|HPRT CHERMSIDE|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
β
βββ2025
NM_000194.3(HPRT1):c.609+5G>ALikely pathogenic
Lesch-Nyhan syndrome|not provided|HPRT1-related disorder
β
βββ2025
NM_000194.2(HPRT1):c.389T>A (p.Val130Asp)Pathogenic
HPRT MIDLAND|Lesch-Nyhan syndrome
β
βββ2025β Residue 130