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Table 2 Clinically reportable variants found within the patient by whole exome sequencing or mitochondrial DNA sequencing

From: A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

Gene

NCBI accession number

Nucleotide change

Amino acid change

Exon

Inheritance

Zygosity

ACMG classification

ANO3

NM_031418.2

c.702C > G

p.C234W

Ex7

Unknown

Heterozygous

VUS

MT-ATP6

NC_012920.1

c.473 T > C

p.V158A

Ex1

Maternal

Homoplasmic

VUS