NOVA2 Chromosome 19
NOVA alternative splicing regulator 2
Upload your DNA to see your personal genotypes for variants in NOVA2.
What This Gene Does
Enables sequence-specific mRNA binding activity. Involved in neuron differentiation and regulation of alternative mRNA splicing, via spliceosome. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (5)
Inborn genetic diseases
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
NOVA2-related disorder
Severe intellectual disability
Intellectual disability
Key Variants
RS200399286
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Inborn genetic diseases
Health Risk
RS547813363
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Health Risk
RS756083426
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2146406554
Likely pathogenic
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Health Risk
RS2513851808
Likely pathogenic
NOVA2-related disorder, NOVA2-related disorder
Health Risk
RS1600596180
Pathogenic
Severe intellectual disability, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Severe intellectual disability
Health Risk
RS1967737959
Pathogenic
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Health Risk
RS1967739365
Pathogenic
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Health Risk
RS1967741386
Pathogenic
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Health Risk
RS1967741450
Pathogenic
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Health Risk
RS1967742137
Pathogenic
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Health Risk
RS2146406674
Pathogenic
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200399286 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Inborn genetic diseases |
| RS547813363 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities |
| RS756083426 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2146406554 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities |
| RS2513851808 | Health Risk | Likely pathogenic | NOVA2-related disorder, NOVA2-related disorder |
| RS1600596180 | Health Risk | Pathogenic | Severe intellectual disability, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Severe intellectual disability |
| RS1967737959 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities |
| RS1967739365 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities |
| RS1967741386 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities |
| RS1967741450 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities |
| RS1967742137 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities |
| RS2146406674 | Health Risk | Pathogenic | — |
| RS2146406775 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2513852016 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities |
| RS2513852929 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities |