NM_012330.4(KAT6B):c.3040C>T (p.Gln1014Ter)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type
β
β
ββ2025β Residue 1014
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs)Pathogenic
Genitopatellar syndrome|not provided|Inborn genetic diseases|KAT6B-Related Spectrum Disorders
β
β
ββ2025β Residue 1258
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)Pathogenic
Blepharophimosis - intellectual disability syndrome, SBBYS type|not provided|Inborn genetic diseases|Genitopatellar syndrome|Genitopatellar syndrome;Blepharophimosis - intellectual disability syndrome, SBBYS type|Genitopatellar syndrome;Epilepsy, familial temporal lobe, 1
β
β
ββ2025β Residue 1402
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type;Genitopatellar syndrome|Blepharophimosis - intellectual disability syndrome, SBBYS type|Genitopatellar syndrome|KAT6B-related disorder
β
β
ββ2025β Residue 1058
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type|Intellectual disability|KAT6B-related disorder
β
β
ββ2025β Residue 1049
NM_012330.4(KAT6B):c.3349_3350del (p.Gln1117fs)Pathogenic
not provided|Neurodevelopmental disorder|Blepharophimosis - intellectual disability syndrome, SBBYS type
β
β
ββ2025β Residue 1117
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter)Pathogenic
Blepharophimosis - intellectual disability syndrome, SBBYS type|not provided|Genitopatellar syndrome|KAT6B-related multiple congenital anomalies syndrome
β
β
ββ2024β Residue 1797
NM_012330.4(KAT6B):c.5254C>T (p.Gln1752Ter)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type|Blepharophimosis - intellectual disability syndrome, SBBYS type;Genitopatellar syndrome
β
β
ββ2024β Residue 1752
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs)Pathogenic
Genitopatellar syndrome|not provided|Inborn genetic diseases|KAT6B-related disorder
β
β
ββ2024β Residue 1263
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type
β
β
ββ2024β Residue 1638
NM_012330.4(KAT6B):c.5646del (p.Asn1883fs)Pathogenic
Blepharophimosis - intellectual disability syndrome, SBBYS type|KAT6B-related disorder
β
β
ββ2024β Residue 1883
NM_012330.4(KAT6B):c.3581del (p.Gln1194fs)Pathogenic
Genitopatellar syndrome|KAT6B-realted disoder|KAT6B-related disorder
β
β
ββ2024β Residue 1194
NM_012330.4(KAT6B):c.3217G>T (p.Glu1073Ter)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type
β
β
ββ2023β Residue 1073
NM_012330.4(KAT6B):c.5302C>T (p.Gln1768Ter)Pathogenic
Blepharophimosis - intellectual disability syndrome, SBBYS type|Inborn genetic diseases
β
β
ββ2023β Residue 1768
NM_012330.4(KAT6B):c.3349C>T (p.Gln1117Ter)Pathogenic
not provided|Intellectual disability
β
β
ββ2023β Residue 1117
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs)Pathogenic
Blepharophimosis - intellectual disability syndrome, SBBYS type|not provided
β
β
ββ2023β Residue 1737
NM_012330.4(KAT6B):c.3401del (p.Gly1134fs)Pathogenic
not provided
β
β
ββ2023β Residue 1134
NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321fs)Pathogenic
Blepharophimosis - intellectual disability syndrome, SBBYS type|not provided
β
β
ββ2023β Residue 1321
NM_012330.4(KAT6B):c.3998dup (p.Ser1334fs)Pathogenic
Genitopatellar syndrome|Blepharophimosis - intellectual disability syndrome, SBBYS type
β
β
ββ2023β Residue 1334
NM_012330.4(KAT6B):c.2347C>T (p.Arg783Ter)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type
β
β
ββ2023β Residue 783