| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autism spectrum disorder |
Likely pathogenic; Pathogenic |
rs1419550439, rs2045256930, rs2048464266 |
RCV001261843 RCV001261833 RCV001261835 |
| Developmental delay |
Likely pathogenic; Pathogenic |
rs2048990416, rs2046750269, rs2048834387, rs2049017627 |
RCV001261841 RCV001261845 RCV001261836 RCV001261842 |
| Epilepsy |
Likely pathogenic |
rs2046598826, rs2048834387 |
RCV001261834 RCV001261836 |
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES |
Likely pathogenic; Pathogenic |
rs2048988947 |
RCV001182006 |
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES |
Likely pathogenic; Pathogenic |
rs764041869, rs1419550439, rs2045256930, rs2048464266, rs2048990416 |
RCV001181999 RCV001182001 RCV001182002 RCV001182003 RCV001182005 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures |
Pathogenic; Likely pathogenic |
rs2147151004, rs2147425882, rs2146269292, rs2510632551, rs2509607298, rs2510098307, rs2510205603, rs2510080382, rs2510489906, rs2045256930, rs2048464266 |
RCV001724762 RCV001724763 RCV001785326 RCV003594709 RCV003883311 RCV003990585 RCV004566403 RCV004555184 RCV004595068 RCV004559915 RCV006261755 |
| Intellectual disability |
Likely pathogenic; Pathogenic |
rs2509607298, rs2048990416, rs2048703168, rs2048707664 |
RCV004798984 RCV001261841 RCV001255337 RCV001261846 |
| Intellectual Disability with multiple congenital anomalies |
Likely pathogenic |
rs780968730 |
RCV001261838 |
| Neurodevelopmental disorder |
Likely pathogenic; Pathogenic |
rs764041869, rs2045256930, rs2048988947, rs2048929422, rs2047893330, rs2048999762 |
RCV001261840 RCV001261832 RCV001261839 RCV001261837 RCV001261844 RCV001261687 |
| TANC2-related disorder |
Likely pathogenic |
rs2510349919 |
RCV003894273 |