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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: 1,588,000 bp
Pathogenic
Dup7-non-ASD IMMP2L, LRRN3 CNV DEL Chr7:110,347,001- 110,883,800
Size: 536,800 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
  1. CNV copy number variant, DEL deletion
  2. *Each CNV listed here is found in a different participant