NM_005639.3(SYT1):c.928G>A (p.Asp310Asn)Pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome|not provided
★★☆☆2024→ Residue 310
NM_005639.3(SYT1):c.926C>T (p.Ser309Phe)Pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
★★☆☆2022→ Residue 309
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr)Pathogenic
not provided|SYT1-associated neurodevelopmental disorder|Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome|Inborn genetic diseases
★★☆☆2022→ Residue 368
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu)Pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome|SYT1-associated neurodevelopmental disorder
★★☆☆2021→ Residue 366
NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys)Pathogenic
SYT1-associated neurodevelopmental disorder|Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
★★☆☆2019→ Residue 371
NM_005639.3(SYT1):c.911A>G (p.Asp304Gly)Pathogenic
SYT1-associated neurodevelopmental disorder|Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
★★☆☆2019→ Residue 304
NM_005639.3(SYT1):c.908T>A (p.Met303Lys)Pathogenic
SYT1-associated neurodevelopmental disorder|Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
★★☆☆2019→ Residue 303
NM_005639.3(SYT1):c.1093T>C (p.Tyr365His)Likely pathogenic
not provided
★☆☆☆2025→ Residue 365
NM_005639.3(SYT1):c.911A>T (p.Asp304Val)Likely pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
★☆☆☆2024→ Residue 304
NM_005639.3(SYT1):c.935A>G (p.Tyr312Cys)Likely pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
★☆☆☆2024→ Residue 312
NM_005639.3(SYT1):c.724G>A (p.Gly242Arg)Likely pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
★☆☆☆2022→ Residue 242
NM_005639.3(SYT1):c.1101_1103dup (p.Lys367_Ile368insMet)Likely pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
★☆☆☆2022→ Residue 367
NM_005639.3(SYT1):c.920G>A (p.Gly307Asp)Likely pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
★☆☆☆2022→ Residue 307
NM_005639.3(SYT1):c.476T>G (p.Leu159Arg)Likely pathogenic
Neurodevelopmental disorder
★☆☆☆2020→ Residue 159
NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu)Pathogenic
Syndromic intellectual disability
★☆☆☆2020→ Residue 366
NM_005639.3(SYT1):c.1090G>A (p.Asp364Asn)Likely pathogenic
Inborn genetic diseases
★☆☆☆2018→ Residue 364
NM_005639.3(SYT1):c.931C>T (p.Pro311Ser)Likely pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
★☆☆☆→ Residue 311
NM_005639.3(SYT1):c.1198C>T (p.Arg400Ter)Pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
☆☆☆☆2021→ Residue 400
NM_005639.3(SYT1):c.1100_1102dup (p.Lys367dup)Likely pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
☆☆☆☆2020→ Residue 367
NM_005639.3(SYT1):c.551T>C (p.Val184Ala)Likely pathogenic
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
☆☆☆☆→ Residue 184