NM_001382241.1(TNPO2):c.466G>T (p.Asp156Tyr)Likely pathogenic
Inborn genetic diseases
β
βββ2025β Residue 156
NM_001382241.1(TNPO2):c.191C>T (p.Ser64Phe)Likely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
β
βββ2025β Residue 64
NM_001382241.1(TNPO2):c.466G>A (p.Asp156Asn)Pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies|TNPO2-related disorder
β
βββ2025β Residue 156
NM_001382241.1(TNPO2):c.890+1G>TLikely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
β
βββ2024
NM_001382241.1(TNPO2):c.826G>A (p.Glu276Lys)Likely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
β
βββ2023β Residue 276
NM_001382241.1(TNPO2):c.2174C>A (p.Ala725Asp)Likely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
β
βββ2023β Residue 725
NM_001382241.1(TNPO2):c.1541C>T (p.Pro514Leu)Likely pathogenic
TNPO2-related disorder
β
βββ2022β Residue 514
NM_001382241.1(TNPO2):c.2342C>T (p.Thr781Ile)Likely pathogenic
not provided
β
βββ2022β Residue 781
NM_001382241.1(TNPO2):c.1643C>T (p.Ser548Phe)Likely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
β
βββ2022β Residue 548
NM_001382241.1(TNPO2):c.2110+1G>CLikely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
β
βββ2022
NM_001382241.1(TNPO2):c.2048G>C (p.Ser683Thr)Likely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
β
βββ2021β Residue 683
NM_001382241.1(TNPO2):c.1471_1474delinsCAAT (p.Lys491_Arg492delinsGlnTrp)Likely pathogenic
Neurodevelopmental disorder
β
βββ2021β Residue 491
NM_001382241.1(TNPO2):c.1708T>G (p.Trp570Gly)Likely pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
ββββ2025β Residue 570
NM_001382241.1(TNPO2):c.1108T>C (p.Trp370Arg)Pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
ββββ2021β Residue 370
NM_001382241.1(TNPO2):c.1110G>C (p.Trp370Cys)Pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
ββββ2021β Residue 370
NM_001382241.1(TNPO2):c.1637C>T (p.Ala546Val)Pathogenic
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
ββββ2021β Residue 546