NM_005898.5(CAPRIN1):c.1066A>T (p.Arg356Ter)Pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
β
βββ2026β Residue 356
NM_005898.5(CAPRIN1):c.1674_1677del (p.Thr559fs)Pathogenic
not provided
β
βββ2025β Residue 559
NM_005898.5(CAPRIN1):c.1689dup (p.Glu564fs)Pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
β
βββ2025β Residue 564
NM_005898.5(CAPRIN1):c.1733_1740del (p.Asp578fs)Likely pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
β
βββ2025β Residue 578
NM_005898.5(CAPRIN1):c.1635T>A (p.Tyr545Ter)Pathogenic
not provided
β
βββ2025β Residue 545
NM_005898.5(CAPRIN1):c.1372C>T (p.Arg458Ter)Pathogenic
not provided
β
βββ2025β Residue 458
NM_005898.5(CAPRIN1):c.947G>A (p.Trp316Ter)Pathogenic
not specified
β
βββ2025β Residue 316
NM_005898.5(CAPRIN1):c.215del (p.Lys72fs)Pathogenic
not specified
β
βββ2025β Residue 72
NM_005898.5(CAPRIN1):c.844G>T (p.Glu282Ter)Pathogenic
not provided
β
βββ2025β Residue 282
NM_005898.5(CAPRIN1):c.1604del (p.Thr534_Leu535insTer)Pathogenic
not specified
β
βββ2024β Residue 534
NM_005898.5(CAPRIN1):c.380_383del (p.Ile127fs)Likely pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
β
βββ2024β Residue 127
NM_005898.5(CAPRIN1):c.977C>A (p.Ser326Ter)Pathogenic
not provided
β
βββ2024β Residue 326
NM_005898.5(CAPRIN1):c.688+5G>ALikely pathogenic
not provided
β
βββ2024
NM_005898.5(CAPRIN1):c.1660C>T (p.His554Tyr)Likely pathogenic
not provided
β
βββ2024β Residue 554
NM_005898.5(CAPRIN1):c.241C>T (p.Arg81Ter)Pathogenic
not provided
β
βββ2024β Residue 81
NM_005898.5(CAPRIN1):c.1654C>T (p.Gln552Ter)Likely pathogenic
Focal-onset seizure;Moderate global developmental delay;Epileptic encephalopathy
β
βββ2023β Residue 552
NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)Likely pathogenic
Autistic behavior;Seizure;Autism;Moderate intellectual disability
β
βββ2023β Residue 92
NM_005898.5(CAPRIN1):c.1493_1496del (p.Ser498fs)Pathogenic
CAPRIN1-related neurodevelopmental disorders
β
βββ2022β Residue 498
NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)Pathogenic
Juvenile myoclonic epilepsy
β
ββββ Residue 297
NM_005898.5(CAPRIN1):c.832G>T (p.Glu278Ter)Likely pathogenic
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
ββββ2025β Residue 278