From:  The genetic profile of a neurofibromatosis type 1 Vietnamese patient with complicated pheochromocytomas and colorectal tumors

 The candidate variants of the patient detected by WES

GeneNucleotide change (amino acid change)ConsequenceClinVar classificationZygosityRelated diseases
NF1c.7301dupA (p.S2435Efs*11)Frameshift-HETNeurofibromatosis type 1, autosomal dominant
PMS2c.2T>C (p.M1T)MissensePathogenic/likely pathogenicHETLynch syndrome, autosomal dominant
MUTYHc.850-2A>GSplicingConflicting classifications of pathogenicityHETFamilial adenomatous polyposis 2, autosomal recessive

The reference sequences: MUTYH: NM_001048174; NF1: NM_001042492; PMS2: NM_000535 according to NCBI. -: not available; WES: whole-exome sequencing; HET: heterozygous