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