NM_006565.4(CTCF):c.1343G>A (p.Arg448Gln)Pathogenic
not provided|CTCF-related neurodevelopmental disorder|CTCF-related disorder
β
β
ββ2025β Residue 448
NM_006565.4(CTCF):c.959G>A (p.Arg320His)Likely pathogenic
not provided|CTCF-related neurodevelopmental disorder
β
β
ββ2025β Residue 320
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys)Pathogenic
not provided|CTCF-related neurodevelopmental disorder|CTCF-related disorder|Inborn genetic diseases
β
β
ββ2025β Residue 342
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys)Pathogenic
CTCF-related neurodevelopmental disorder|Inborn genetic diseases|not provided
β
β
ββ2025β Residue 368
NM_006565.4(CTCF):c.615_618del (p.Lys206fs)Pathogenic
Inborn genetic diseases|CTCF-related neurodevelopmental disorder|Intellectual disability|not provided
β
β
ββ2025β Residue 206
NM_006565.4(CTCF):c.782-1G>CPathogenic
CTCF-related neurodevelopmental disorder|not provided|Melanoma
β
β
ββ2025
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)Pathogenic
CTCF-related neurodevelopmental disorder|not provided|CTCF-related syndromic intellectual disability|Inborn genetic diseases|Intellectual disability
β
β
ββ2024β Residue 567
NM_006565.4(CTCF):c.610dup (p.Thr204fs)Pathogenic
not provided|Desmoplastic/nodular medulloblastoma|Alveolar rhabdomyosarcoma
β
β
ββ2024β Residue 204
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu)Pathogenic
CTCF-related neurodevelopmental disorder|Inborn genetic diseases
β
β
ββ2024β Residue 378
NM_006565.4(CTCF):c.677A>G (p.Tyr226Cys)Pathogenic
not provided|CTCF-related neurodevelopmental disorder
β
β
ββ2024β Residue 226
NM_006565.4(CTCF):c.1025G>A (p.Arg342His)Pathogenic
not provided|CTCF-related neurodevelopmental disorder
β
β
ββ2024β Residue 342
NM_006565.4(CTCF):c.1670_1674del (p.Val556_Cys557insTer)Pathogenic
not provided
β
β
ββ2024β Residue 556
NM_006565.4(CTCF):c.782-2A>GPathogenic
Inborn genetic diseases|CTCF-related neurodevelopmental disorder|not provided
β
β
ββ2023
NM_006565.4(CTCF):c.1103G>A (p.Arg368His)Pathogenic
CTCF-related neurodevelopmental disorder|not provided
β
β
ββ2022β Residue 368
NM_006565.4(CTCF):c.950_951dup (p.Gly318fs)Pathogenic
not provided
β
β
ββ2021β Residue 318
NM_006565.4(CTCF):c.778_781del (p.Lys260fs)Pathogenic
CTCF-related neurodevelopmental disorder
β
β
ββ2020β Residue 260
NM_006565.4(CTCF):c.848G>A (p.Arg283His)Likely pathogenic
CTCF-related neurodevelopmental disorder
β
β
ββ2019β Residue 283
NM_006565.4(CTCF):c.1129C>T (p.Arg377Cys)Pathogenic
not provided
β
βββ2026β Residue 377
NM_006565.4(CTCF):c.952+1G>TLikely pathogenic
CTCF-related neurodevelopmental disorder
β
βββ2025
NM_006565.4(CTCF):c.1999+1G>APathogenic
not provided
β
βββ2025