NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)Pathogenic
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3|not provided|Inborn genetic diseases|Syndromic Infantile Encephalopathy
β
β
ββ2026β Residue 126
NM_001163435.3(TBCK):c.2252del (p.Pro751fs)Pathogenic
not provided|TBCK-related disorder|Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
β
β
ββ2026β Residue 751
NM_001163435.3(TBCK):c.803_806del (p.Met268fs)Pathogenic
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3|not provided|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
β
β
ββ2026β Residue 268
NM_001163435.3(TBCK):c.247C>T (p.Arg83Ter)Pathogenic
Abnormality of the nervous system|not provided|Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
β
β
ββ2025β Residue 83
NM_001163435.3(TBCK):c.196C>T (p.Arg66Ter)Pathogenic
not provided|Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
β
β
ββ2025β Residue 66
NM_001163435.3(TBCK):c.456-1G>APathogenic
not provided
β
β
ββ2025
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs)Pathogenic
not provided|Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
β
β
ββ2025β Residue 457
NM_001163435.3(TBCK):c.1351-1G>ALikely pathogenic
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3|not provided
β
β
ββ2025
NM_001163435.3(TBCK):c.2091dup (p.Ile698fs)Pathogenic
Inborn genetic diseases|not provided|Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
β
β
ββ2025β Residue 698
NM_001163435.3(TBCK):c.2060-2A>GPathogenic
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3|not provided|Ovarian serous cystadenocarcinoma
β
β
ββ2025
NM_001163435.3(TBCK):c.382-2A>GPathogenic
not provided|Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
β
β
ββ2025
NM_001163435.3(TBCK):c.1370del (p.Asn457fs)Pathogenic
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3|not provided
β
β
ββ2025β Residue 457
NM_001163435.3(TBCK):c.1039C>T (p.Arg347Ter)Pathogenic
not provided|Global developmental delay|Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
β
β
ββ2025β Residue 347
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)Pathogenic
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3|not provided|Syndromic Infantile Encephalopathy|TBCK-related disorder
β
β
ββ2025β Residue 455
NM_001163435.3(TBCK):c.186_189dup (p.His64fs)Pathogenic
not provided|Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
β
β
ββ2025β Residue 64
NM_001163435.3(TBCK):c.1290del (p.Arg431fs)Pathogenic
not provided|Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
β
β
ββ2025β Residue 431
NM_001163435.3(TBCK):c.304C>T (p.Gln102Ter)Pathogenic
not provided
β
β
ββ2025β Residue 102
NM_001163435.3(TBCK):c.1771C>T (p.Gln591Ter)Pathogenic
not provided|Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
β
β
ββ2025β Residue 591
NM_001163435.3(TBCK):c.531dup (p.Pro178fs)Pathogenic
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3|not provided
β
β
ββ2025β Residue 178
NM_001163435.3(TBCK):c.456-2A>GPathogenic
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
β
β
ββ2025