NM_002107.7(H3-3A):c.68C>T (p.Thr23Ile)Pathogenic
not provided|H3-3A-related disorder|Bryant-Li-Bhoj neurodevelopmental syndrome 1
★★☆☆2025→ Residue 23
NM_002107.7(H3-3A):c.25C>G (p.Arg9Gly)Likely pathogenic
not specified|not provided
★★☆☆2025→ Residue 9
NM_002107.7(H3-3A):c.137C>T (p.Thr46Ile)Pathogenic
Inborn genetic diseases|Bryant-Li-Bhoj neurodevelopmental syndrome 1
★★☆☆2024→ Residue 46
NM_002107.7(H3-3A):c.363G>A (p.Met121Ile)Pathogenic
Global developmental delay;Short stature;Delayed speech and language development;Intellectual disability;Brain imaging abnormality|Bryant-Li-Bhoj neurodevelopmental syndrome 1|not provided
★★☆☆2024→ Residue 121
NM_002107.7(H3-3A):c.377A>G (p.Gln126Arg)Pathogenic
Inborn genetic diseases|not provided|Bryant-Li-Bhoj neurodevelopmental syndrome 1|H3F3A-related disorder
★★☆☆2023→ Residue 126
NM_002107.7(H3-3A):c.326A>G (p.Asn109Ser)Likely pathogenic
Bryant-Li-Bhoj neurodevelopmental syndrome 1|not specified
★★☆☆2022→ Residue 109
NM_002107.7(H3-3A):c.365C>G (p.Pro122Arg)Pathogenic
Inborn genetic diseases|H3F3A-related disorder
★★☆☆2017→ Residue 122
NM_002107.7(H3-3A):c.148C>T (p.Arg50Cys)Likely pathogenic
Bryant-Li-Bhoj neurodevelopmental syndrome 1
★☆☆☆2025→ Residue 50
NM_002107.7(H3-3A):c.339C>G (p.Ile113Met)Likely pathogenic
Bryant-Li-Bhoj neurodevelopmental syndrome 1
★☆☆☆2024→ Residue 113
NM_002107.7(H3-3A):c.326A>T (p.Asn109Ile)Pathogenic
not provided
★☆☆☆2024→ Residue 109
NM_002107.7(H3-3A):c.88G>A (p.Ala30Thr)Likely pathogenic
not provided
★☆☆☆2024→ Residue 30
NM_002107.7(H3-3A):c.335C>T (p.Ala112Val)Pathogenic
not provided
★☆☆☆2024→ Residue 112
NM_002107.7(H3-3A):c.92C>T (p.Pro31Leu)Likely pathogenic
not provided
★☆☆☆2024→ Residue 31
NM_002107.7(H3-3A):c.52A>G (p.Arg18Gly)Pathogenic
Bryant-Li-Bhoj neurodevelopmental syndrome 1|not provided
★☆☆☆2022→ Residue 18
NM_002107.7(H3-3A):c.362T>C (p.Met121Thr)Pathogenic
Bryant-Li-Bhoj neurodevelopmental syndrome 1
★☆☆☆2022→ Residue 121
NM_002107.7(H3-3A):c.250C>G (p.Arg84Gly)Likely pathogenic
Neurodevelopmental disorder|Bryant-Li-Bhoj neurodevelopmental syndrome 1
★☆☆☆2019→ Residue 84
NM_002107.7(H3-3A):c.244G>C (p.Asp82His)Likely pathogenic
Inborn genetic diseases|H3-3A-related disorder
★☆☆☆2018→ Residue 82
NM_002107.7(H3-3A):c.121C>T (p.Arg41Cys)Pathogenic
Global developmental delay;Short stature;Delayed speech and language development;Intellectual disability;Brain imaging abnormality|Bryant-Li-Bhoj neurodevelopmental syndrome 1
☆☆☆☆2022→ Residue 41
NM_002107.7(H3-3A):c.386G>A (p.Arg129His)Pathogenic
Global developmental delay;Short stature;Delayed speech and language development;Intellectual disability;Brain imaging abnormality|Bryant-Li-Bhoj neurodevelopmental syndrome 1
☆☆☆☆2022→ Residue 129
NM_002107.7(H3-3A):c.166C>A (p.Gln56Lys)Likely pathogenic
Global developmental delay;Short stature;Delayed speech and language development;Intellectual disability;Brain imaging abnormality
☆☆☆☆2021→ Residue 56