NM_016194.4(GNB5):c.61C>T (p.Arg21Ter)Pathogenic
not provided|Gnb5-related intellectual disability-cardiac arrhythmia syndrome
★★☆☆2025→ Residue 21
NM_016194.4(GNB5):c.863G>A (p.Arg288Gln)Pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome
★★☆☆2025→ Residue 288
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)Pathogenic
Global developmental delay;Delayed speech and language development;Attention deficit hyperactivity disorder|Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia|not provided|Gnb5-related intellectual disability-cardiac arrhythmia syndrome;Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia|Gnb5-related intellectual disability-cardiac arrhythmia syndrome|Inborn genetic diseases
★★☆☆2025→ Residue 123
NM_016194.4(GNB5):c.640_643del (p.Ser214fs)Pathogenic
Abnormality of the nervous system|Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
★★☆☆2024→ Residue 214
NM_016194.4(GNB5):c.262del (p.Glu88fs)Pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome|GNB5-related disorder|GNB5-reled disorder
★★☆☆2024→ Residue 88
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter)Pathogenic
not provided|Gnb5-related intellectual disability-cardiac arrhythmia syndrome|Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
★★☆☆2023→ Residue 344
NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter)Pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome|Inborn genetic diseases|not provided
★★☆☆2023→ Residue 344
NM_016194.4(GNB5):c.628-6G>ALikely pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome
★☆☆☆2025
NM_016194.4(GNB5):c.514del (p.Ser172fs)Pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome
★☆☆☆2025→ Residue 172
NM_016194.4(GNB5):c.348_352del (p.Asp116fs)Pathogenic
not provided|Gnb5-related intellectual disability-cardiac arrhythmia syndrome;Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia|Gnb5-related intellectual disability-cardiac arrhythmia syndrome|LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND CARDIAC ARRHYTHMIA
★☆☆☆2025→ Residue 116
NM_016194.4(GNB5):c.375+1G>CLikely pathogenic
GNB5-related disorder
★☆☆☆2025
NM_016194.4(GNB5):c.627+1G>APathogenic
GNB5-related disorder
★☆☆☆2025
NM_016194.4(GNB5):c.154G>T (p.Glu52Ter)Likely pathogenic
Cardiovascular phenotype
★☆☆☆2025→ Residue 52
NM_016194.4(GNB5):c.1009+1G>CLikely pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome
★☆☆☆2024
NM_016194.4(GNB5):c.819C>A (p.Cys273Ter)Likely pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome
★☆☆☆2023→ Residue 273
NM_016194.4(GNB5):c.375+1G>ALikely pathogenic
GNB5-related disorder
★☆☆☆2023
NM_016194.4(GNB5):c.841_851del (p.Glu281fs)Pathogenic
not provided
★☆☆☆2023→ Residue 281
NM_016194.4(GNB5):c.500del (p.Leu167fs)Pathogenic
not provided
★☆☆☆2023→ Residue 167
NM_016194.4(GNB5):c.864-1G>TLikely pathogenic
not provided
★☆☆☆2023
NM_016194.4(GNB5):c.1120C>T (p.Arg374Ter)Likely pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome|not provided
★☆☆☆2023→ Residue 374