NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter)Pathogenic
Congenital glucose-galactose malabsorption|SLC5A1-related disorder
β
β
ββ2025β Residue 267
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg)Pathogenic
Congenital glucose-galactose malabsorption|SLC5A1-related disorder
β
β
ββ2025β Residue 457
NM_000343.4(SLC5A1):c.372+2_372+8delinsCTTATATTAAGGPathogenic
Congenital glucose-galactose malabsorption|SLC5A1-related glucose/galactose malabsorption
β
β
ββ2025
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter)Pathogenic
Congenital glucose-galactose malabsorption
β
β
ββ2025β Residue 63
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)Pathogenic
Congenital glucose-galactose malabsorption|not provided
β
β
ββ2025β Residue 255
NM_000343.4(SLC5A1):c.475T>C (p.Ser159Pro)Likely pathogenic
SLC5A1-related disorder|Congenital glucose-galactose malabsorption|not provided
β
β
ββ2024β Residue 159
NM_000343.4(SLC5A1):c.200G>A (p.Trp67Ter)Likely pathogenic
SLC5A1-related disorder|Congenital glucose-galactose malabsorption
β
β
ββ2024β Residue 67
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His)Likely pathogenic
Congenital glucose-galactose malabsorption
β
β
ββ2023β Residue 336
NM_000343.4(SLC5A1):c.372+1_372+2insCTTATATLikely pathogenic
Congenital glucose-galactose malabsorption
β
βββ2026
NM_000343.4(SLC5A1):c.1613_1614insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCCATTTCTTT (p.Phe538_Ile539insPhePhePhePhePhePheXaaXaaXaaXaaSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)Pathogenic
Congenital glucose-galactose malabsorption
β
βββ2025β Residue 538
NM_000343.4(SLC5A1):c.1566del (p.Cys522fs)Pathogenic
Congenital glucose-galactose malabsorption
β
βββ2025β Residue 522
NM_000343.4(SLC5A1):c.1495C>T (p.Arg499Cys)Likely pathogenic
Congenital glucose-galactose malabsorption
β
βββ2025β Residue 499
NM_000343.4(SLC5A1):c.1065C>A (p.Cys355Ter)Pathogenic
Congenital glucose-galactose malabsorption
β
βββ2025β Residue 355
NM_000343.4(SLC5A1):c.875G>A (p.Cys292Tyr)Pathogenic
Congenital glucose-galactose malabsorption
β
βββ2025β Residue 292
NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn)Likely pathogenic
Congenital glucose-galactose malabsorption
β
βββ2025β Residue 28
NM_000343.4(SLC5A1):c.259del (p.Leu87fs)Pathogenic
Congenital glucose-galactose malabsorption
β
βββ2025β Residue 87
NM_000343.4(SLC5A1):c.1394_1395insT (p.Pro466fs)Pathogenic
Congenital glucose-galactose malabsorption
β
βββ2024β Residue 466
NM_000343.4(SLC5A1):c.207+2T>CLikely pathogenic
Congenital glucose-galactose malabsorption
β
βββ2024
NM_000343.4(SLC5A1):c.673G>T (p.Glu225Ter)Pathogenic
Congenital glucose-galactose malabsorption
β
βββ2024β Residue 225
NM_000343.4(SLC5A1):c.1151C>G (p.Ser384Ter)Pathogenic
Congenital glucose-galactose malabsorption
β
βββ2024β Residue 384