NM_000262.3(NAGA):c.759+1_759+8delLikely pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 2|Alpha-N-acetylgalactosaminidase deficiency type 1|Alpha-N-acetylgalactosaminidase deficiency type 2;Alpha-N-acetylgalactosaminidase deficiency type 1|Malignant tumor of esophagus
β
β
ββ2025
NM_000262.3(NAGA):c.324+1G>ALikely pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1|Alpha-N-acetylgalactosaminidase deficiency type 1;Alpha-N-acetylgalactosaminidase deficiency type 2|Alpha-N-acetylgalactosaminidase deficiency type 1;Alpha-N-acetylgalactosaminidase deficiency type 3;Alpha-N-acetylgalactosaminidase deficiency type 2
β
β
ββ2025
NM_000262.3(NAGA):c.874C>T (p.Gln292Ter)Pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1|Alpha-N-acetylgalactosaminidase deficiency
β
β
ββ2025β Residue 292
NM_000262.3(NAGA):c.443G>A (p.Trp148Ter)Pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1|Alpha-N-acetylgalactosaminidase deficiency
β
β
ββ2025β Residue 148
NM_000262.3(NAGA):c.157C>T (p.Gln53Ter)Pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1|Alpha-N-acetylgalactosaminidase deficiency type 1;Alpha-N-acetylgalactosaminidase deficiency type 2
β
β
ββ2024β Residue 53
NM_000262.3(NAGA):c.913del (p.Ile305fs)Pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1
β
βββ2026β Residue 305
NM_000262.3(NAGA):c.324del (p.Asp107_Tyr108insTer)Pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1
β
βββ2025β Residue 107
NM_000262.3(NAGA):c.957+2T>CLikely pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1
β
βββ2025
NM_000262.3(NAGA):c.40C>T (p.Gln14Ter)Pathogenic
Alpha-N-acetylgalactosaminidase deficiency
β
βββ2025β Residue 14
NM_000262.3(NAGA):c.667del (p.Trp223fs)Pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1
β
βββ2024β Residue 223
NM_000262.3(NAGA):c.325-1G>CLikely pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1
β
βββ2024
NM_000262.3(NAGA):c.838C>T (p.Leu280Phe)Likely pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1
β
βββ2024β Residue 280
NM_000262.3(NAGA):c.985C>T (p.Arg329Trp)Likely pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 2|Alpha-N-acetylgalactosaminidase deficiency
β
βββ2024β Residue 329
NM_000262.3(NAGA):c.190C>T (p.Gln64Ter)Pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1
β
βββ2024β Residue 64
NM_000262.3(NAGA):c.1101+1G>ALikely pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 2;Alpha-N-acetylgalactosaminidase deficiency type 1
β
βββ2024
NM_000262.3(NAGA):c.567G>A (p.Trp189Ter)Likely pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 2;Alpha-N-acetylgalactosaminidase deficiency type 1
β
βββ2024β Residue 189
NM_000262.3(NAGA):c.639dup (p.Asn214Ter)Pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1
β
βββ2024β Residue 214
NM_000262.3(NAGA):c.1113dup (p.Tyr372fs)Likely pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 2;Alpha-N-acetylgalactosaminidase deficiency type 1
β
βββ2024β Residue 372
NM_000262.3(NAGA):c.319_322dup (p.Tyr108Ter)Pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1
β
βββ2024β Residue 108
NM_000262.3(NAGA):c.324+1G>CLikely pathogenic
Alpha-N-acetylgalactosaminidase deficiency type 1
β
βββ2023