| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
Evidence Score |
| Attention deficit hyperactivity disorder |
Pathogenic; Likely pathogenic |
rs2144666888, rs2144755046, rs1971372172, rs2144613361, rs2144699293 |
RCV002274837 RCV002274841 RCV002274842 RCV002274843 RCV002274844 |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Autistic behavior |
Pathogenic; Likely pathogenic |
rs2144666888, rs2144755046, rs1971372172, rs2144613361, rs2144699293 |
RCV002274837 RCV002274841 RCV002274842 RCV002274843 RCV002274844 |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders |
Pathogenic; Likely pathogenic |
rs2144666888, rs2144613733, rs2144755046, rs1971372172, rs2144613361, rs2512766503, rs2513043216, rs2512827446 |
RCV002287907 RCV002287908 RCV002287909 RCV002287910 RCV002287911 RCV003444144 RCV003458951 RCV003988346 |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Global developmental delay |
Pathogenic; Likely pathogenic |
rs2144666888, rs2144613733, rs2144616263, rs2144755046, rs2144613361, rs2144699293, rs907174700, rs1395589626 |
RCV002274837 RCV002274838 RCV002274839 RCV002274841 RCV002274843 RCV002274844 RCV002274845 RCV002274846 |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual disability |
Pathogenic; Likely pathogenic |
rs2144666888, rs2144755046, rs907174700, rs1395589626 |
RCV002274837 RCV002274841 RCV002274845 RCV002274846 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Seizure |
Pathogenic |
rs2144613361, rs2144699293 |
RCV002274843 RCV002274844 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Specific learning disability |
Pathogenic |
rs2144616263, rs907174700 |
RCV002274839 RCV002274845 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |