NM_015898.4(ZBTB7A):c.674dup (p.Ala226fs)Pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
β
β
ββ2025β Residue 226
NM_015898.4(ZBTB7A):c.1230C>A (p.Tyr410Ter)Likely pathogenic
not provided|Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
β
β
ββ2024β Residue 410
NM_015898.4(ZBTB7A):c.1354G>A (p.Asp452Asn)Pathogenic
not provided|Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
β
β
ββ2023β Residue 452
NM_015898.4(ZBTB7A):c.519_528del (p.Ala175fs)Likely pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
β
βββ2026β Residue 175
NM_015898.4(ZBTB7A):c.832G>T (p.Glu278Ter)Pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
β
βββ2025β Residue 278
NM_015898.4(ZBTB7A):c.237del (p.Phe79fs)Likely pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
β
βββ2025β Residue 79
NM_015898.4(ZBTB7A):c.1022C>A (p.Ser341Ter)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 341
NM_015898.4(ZBTB7A):c.171_173dup (p.Tyr58Ter)Likely pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
β
βββ2025β Residue 58
NM_015898.4(ZBTB7A):c.897del (p.Ala300fs)Pathogenic
not provided
β
βββ2025β Residue 300
NM_015898.4(ZBTB7A):c.1232_1234dup (p.Cys412Ter)Likely pathogenic
Inborn genetic diseases
β
βββ2025β Residue 412
NM_015898.4(ZBTB7A):c.169C>T (p.Gln57Ter)Likely pathogenic
not provided
β
βββ2025β Residue 57
NM_015898.4(ZBTB7A):c.1499del (p.Lys500fs)Likely pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
β
βββ2024β Residue 500
NM_015898.4(ZBTB7A):c.1497del (p.Lys500fs)Likely pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
β
βββ2024β Residue 500
NM_015898.4(ZBTB7A):c.692del (p.Thr231fs)Likely pathogenic
not provided
β
βββ2024β Residue 231
NM_015898.4(ZBTB7A):c.98del (p.Leu33fs)Pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
β
βββ2024β Residue 33
NM_015898.4(ZBTB7A):c.522dup (p.Ala175fs)Likely pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
β
βββ2023β Residue 175
NM_015898.4(ZBTB7A):c.522del (p.Ala175fs)Pathogenic
Inborn genetic diseases
β
βββ2022β Residue 175
NM_015898.4(ZBTB7A):c.1466_1496del (p.Gly489fs)Pathogenic
Neurodevelopmental delay
β
ββββ Residue 489
NM_015898.4(ZBTB7A):c.642dup (p.Asn215fs)Pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
ββββ2022β Residue 215
NM_015898.4(ZBTB7A):c.1152C>G (p.Cys384Trp)Pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
ββββ2022β Residue 384