Pedigree of the family with variants that did not show segregation (ID#18–19).

<p>Pedigree of the family with variants that did not show segregation (ID#18–19).</p

Pedigrees of the families with variants showing complete segregation (ID#1–4).

<p>Pedigrees of the families with variants showing complete segregation (ID#1–4).</p

Rare genetic variants identified in our cohort.

<p>Rare genetic variants identified in our cohort.</p

Clinical data for the investigated cohort.

<p>Clinical data for the investigated cohort.</p

Pedigrees of the families with variants showing an incomplete pattern of inheritance (ID#5–8).

<p>Pedigrees of the families with variants showing an incomplete pattern of inheritance (ID#5–8).</p

Large Genomic Imbalances in Brugada Syndrome (Part 2)

The last thirty-one pair of files of a sixty-three cohort of non-related patients of European descent with a definite BrS phenotype and negative genetic results (for Single Nucleotide Variants -SNVs- and small insertions/deletions -indels-

Clinical data from the patient with the Copy Number Variant in <i>SCN5A</i>.

<p><b>A.</b> Basal electrocardiogram. <b>B.</b> Electrocardiogram after flecainide test, showing type I Brugada pattern. <b>C.</b> Family pedigree. The proband is indicated by an arrow. Subjects affected and unaffected by BrS are indicated by solid and open symbols, respectively. Genetic status for the <i>SCN5A</i> rearrangement is indicated by a superindex (+ or -).</p

Distribution of rare variants according to gene-level supporting evidence, ACMG clinical classification and minor allele frequency filtering.

<p>Distribution of rare variants according to gene-level supporting evidence, ACMG clinical classification and minor allele frequency filtering.</p

Rare variants (MAF <0.002) in the 5 most frequent sarcomere genes, 25 genes associated with or candidate for HCM and 24 genes (same panel excluding <i>TTN</i>).

<p>Rare variants (MAF <0.002) in the 5 most frequent sarcomere genes, 25 genes associated with or candidate for HCM and 24 genes (same panel excluding <i>TTN</i>).</p

Classification of rare variants in <i>MYBPC3</i>, <i>MYH7</i>, <i>TNNI3</i>, <i>TNNT2</i> and <i>TPM1</i> (pooled data from Sanger sequencing and NGS cohorts).

<p>Classification of rare variants in <i>MYBPC3</i>, <i>MYH7</i>, <i>TNNI3</i>, <i>TNNT2</i> and <i>TPM1</i> (pooled data from Sanger sequencing and NGS cohorts).</p