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Table 1 Genomic variants identified in clinical exome in peripheral blood (ExoNIM® NIMGenetics) in patient 2

From: Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report

Gene Variant nomenclature Exon Intron Cygosity Effect Variant categorization Inheritance Phenotype
SLC2A10 c.685C > T;p.(Arg229*) 2 Het Nonsense PV AR Arterial tortuosity syndrome
SLC2A10 c.1334del;p.(Gly445Glufs*40) 3 Het Frameshift PV AR Arterial tortuosity syndrome
TPM2 c.766C > G;p.(Leu256Val) 8 Het Missense VUS AD Distal artrogriposis tipo 2B4 y tipo 1A; capped myopathy
CIC c.4192-6A > G;p.(?) 10 Het Splicing VUS AD Type 54 intellectual disability
RASA1 c.1393C > T;p.(Arg465Cys) 10 Het Missense VUS AD Capillary malformation-Arteriovenus malformation
ASXL2 c.3425A > G 13 Het Missense VUS AD Shashi-Pena syndrome
  1. Het heterozygosis, VUS variant of unknown significance, PV pathogenic variant, AR autosomal recessive, AD autosomal dominant