Table 1 Rare clinically relevant variants identified in the Dup7 cohort
From: Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
Group* | Gene(s) | Variant type | Variant | Chromosome coordinates (GRCh37/hg19) | Variant category |
|---|---|---|---|---|---|
Dup7-non-ASD | ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF10, NBPF11, NBPF12, NBPF20, NBPF8, PRKAB2 | CNV | DEL | Chr1:146,303,401- 147,891,400 Size: 1,588,000Â bp | Pathogenic |
Dup7-non-ASD | IMMP2L, LRRN3 | CNV | DEL | Chr7:110,347,001- 110,883,800 Size: 536,800Â bp | Variant of uncertain significance |
Dup7-ASD | IMMP2L | CNV | DEL | Chr7:111,120,394–111,351,748 Size: 231,355 bp | Variant of uncertain significance |