Table 2 Summary of the characterization of predicted damaging variants (PDVs) in NS genes in 10 ASD cases.
NS pathway involved | Cases (N) | Gene symbol | Variant type | Position | Variant characterization | ClinVar report | SFARI gene score |
|---|---|---|---|---|---|---|---|
GABA | 5 | VPS18 | SNV | 15-41193187-A-G | Missensse, Heterozygotic | Not reported in ClinVar | - |
ALDH5A1 | SNV | 6-24528285-C-T | Stop_gain, Heterozygotic | Pathogenic | 1 S | ||
GAD1 | SNV | 2-171713633-G-A | Missensse, Heterozygotic | VUS | - | ||
ALDH9A1 | SNV | 1-165664551-A-G | Missensse Heterozygotic | VUS | - | ||
SYNE1 | SNV | 6-152532698-C-T | Missensse, Heterozygotic | VUS | 2 | ||
Glutamate | 6 | CREBBP | SNV | 16-3843551-C-T | Missensse, Heterozygotic | Not reported in ClinVar | 1 S |
AKAP9 | SNV | 7-91630565-T-C | Missensse, Heterozygotic | VUS | 2 | ||
EPB41L2 | CNV | 6-131365548-131395373 | Deletion encompassing EPB41L2 gene | Not reported in ClinVar | - | ||
RTN3 | SNV | 11-63487475-G-C | Missensse, Heterozygotic | Not reported in ClinVar | - | ||
CACNA1C | CNV | 12-2115897- 2127756 | Deletion encompassing CACNA1C gene | Not reported in ClinVar | 1 S | ||
PANX1 | SNV | 11-93886666-T-C | Missensse, Heterozygotic | Not reported in ClinVar | - | ||
Acetylcholine | 1 | CHRND | SNV | 2-233396064-G-A | Missensse, Heterozygotic | VUS | - |
