NM_205768.3(ZBTB18):c.1306C>T (p.Arg436Cys)Likely pathogenic
Intellectual disability, autosomal dominant 22|not provided
β
β
ββ2025β Residue 436
NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His)Pathogenic
Intellectual disability, autosomal dominant 22|not provided|Intellectual disability
β
β
ββ2025β Residue 464
NM_205768.3(ZBTB18):c.1174del (p.His392fs)Likely pathogenic
not provided|Intellectual disability, autosomal dominant 22
β
β
ββ2025β Residue 392
NM_205768.3(ZBTB18):c.1391G>T (p.Arg464Leu)Likely pathogenic
Intellectual disability, autosomal dominant 22|Intellectual disability
β
β
ββ2024β Residue 464
NM_205768.3(ZBTB18):c.142C>T (p.Arg48Ter)Pathogenic
Intellectual disability, autosomal dominant 22|not provided
β
β
ββ2024β Residue 48
NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His)Pathogenic
Intellectual disability, autosomal dominant 22|not provided
β
β
ββ2024β Residue 436
NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter)Pathogenic
Inborn genetic diseases|Intellectual disability, autosomal dominant 22|not provided
β
β
ββ2023β Residue 395
NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser)Pathogenic
Inborn genetic diseases|Intellectual disability, autosomal dominant 22|Intellectual disability|not provided
β
β
ββ2023β Residue 461
NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg)Likely pathogenic
Intellectual disability, autosomal dominant 22|not provided
β
β
ββ2022β Residue 54
NM_205768.3(ZBTB18):c.1147del (p.Leu383fs)Likely pathogenic
not provided|Intellectual disability, autosomal dominant 22
β
β
ββ2022β Residue 383
NM_205768.3(ZBTB18):c.1406A>G (p.His469Arg)Pathogenic
not provided|Intellectual disability, autosomal dominant 22
β
β
ββ2022β Residue 469
NM_205768.3(ZBTB18):c.133C>T (p.Arg45Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 22
β
β
ββ2021β Residue 45
NM_205768.3(ZBTB18):c.1378C>T (p.His460Tyr)Pathogenic
Intellectual disability, autosomal dominant 22|not provided
β
β
ββ2020β Residue 460
NM_205768.3(ZBTB18):c.943_944del (p.Arg315fs)Pathogenic
not provided|Intellectual disability, autosomal dominant 22
β
β
ββ2020β Residue 315
NM_205768.3(ZBTB18):c.1322_1325del (p.His441fs)Pathogenic
Intellectual disability, autosomal dominant 22
β
βββ2025β Residue 441
NM_205768.3(ZBTB18):c.1019_1020dup (p.Ala341fs)Pathogenic
not provided
β
βββ2025β Residue 341
NM_205768.3(ZBTB18):c.162C>A (p.Cys54Ter)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 54
NM_205768.3(ZBTB18):c.942_943dup (p.Arg315fs)Pathogenic
Intellectual disability, autosomal dominant 22
β
βββ2025β Residue 315
NM_205768.3(ZBTB18):c.1282_1283del (p.Phe428fs)Pathogenic
not provided
β
βββ2025β Residue 428
NM_205768.3(ZBTB18):c.1457A>G (p.Gln486Arg)Likely pathogenic
not provided
β
βββ2025β Residue 486