NM_001482.3(GATM):c.778C>T (p.Arg260Ter)Likely pathogenic
not provided|Arginine:glycine amidinotransferase deficiency
β
β
β
β2025β Residue 260
NM_001482.3(GATM):c.216G>A (p.Trp72Ter)Likely pathogenic
Arginine:glycine amidinotransferase deficiency
β
β
β
β2025β Residue 72
NM_001482.3(GATM):c.553G>C (p.Ala185Pro)Likely pathogenic
Arginine:glycine amidinotransferase deficiency
β
β
β
β2025β Residue 185
NM_001482.3(GATM):c.608A>C (p.Tyr203Ser)Likely pathogenic
Arginine:glycine amidinotransferase deficiency
β
β
β
β2025β Residue 203
NM_001482.3(GATM):c.1238G>A (p.Arg413Gln)Likely pathogenic
Arginine:glycine amidinotransferase deficiency
β
β
β
β2025β Residue 413
NM_001482.3(GATM):c.959del (p.Pro320fs)Likely pathogenic
Arginine:glycine amidinotransferase deficiency
β
β
β
β2025β Residue 320
NM_001482.3(GATM):c.1237C>T (p.Arg413Trp)Likely pathogenic
not provided|Arginine:glycine amidinotransferase deficiency
β
β
β
β2024β Residue 413
NM_001482.3(GATM):c.629G>A (p.Trp210Ter)Pathogenic
Arginine:glycine amidinotransferase deficiency
β
β
β
β2023β Residue 210
NM_001482.3(GATM):c.484+1G>TPathogenic
Arginine:glycine amidinotransferase deficiency|Fanconi renotubular syndrome 1;Arginine:glycine amidinotransferase deficiency
β
β
β
β2022
NM_001482.3(GATM):c.446G>A (p.Trp149Ter)Pathogenic
Arginine:glycine amidinotransferase deficiency
β
β
β
β2022β Residue 149
NM_001482.3(GATM):c.505C>T (p.Arg169Ter)Pathogenic
Arginine:glycine amidinotransferase deficiency|Arginine:glycine amidinotransferase deficiency;Fanconi renotubular syndrome 1
β
β
β
β2022β Residue 169
NM_001482.3(GATM):c.1111dup (p.Met371fs)Pathogenic
Arginine:glycine amidinotransferase deficiency
β
β
β
β2022β Residue 371
NM_001482.3(GATM):c.580C>T (p.Arg194Ter)Pathogenic
Arginine:glycine amidinotransferase deficiency|not provided
β
β
ββ2023β Residue 194
NM_001482.3(GATM):c.141dup (p.Asn48fs)Pathogenic
Arginine:glycine amidinotransferase deficiency
β
βββ2025β Residue 48
NM_001482.3(GATM):c.964C>T (p.Arg322Ter)Pathogenic
Arginine:glycine amidinotransferase deficiency
β
βββ2025β Residue 322
NM_001482.3(GATM):c.608A>G (p.Tyr203Cys)Likely pathogenic
Arginine:glycine amidinotransferase deficiency
β
βββ2024β Residue 203
NM_001482.3(GATM):c.5_33del (p.Leu2fs)Pathogenic
Arginine:glycine amidinotransferase deficiency
β
βββ2024β Residue 2
NM_001482.3(GATM):c.217_250dup (p.Glu84fs)Likely pathogenic
Arginine:glycine amidinotransferase deficiency;Fanconi renotubular syndrome 1
β
βββ2024β Residue 84
NM_001482.3(GATM):c.92G>A (p.Trp31Ter)Pathogenic
Arginine:glycine amidinotransferase deficiency
β
βββ2024β Residue 31
NM_001482.3(GATM):c.979-1_979insTLikely pathogenic
Arginine:glycine amidinotransferase deficiency
β
βββ2024