Supplementary Data Table S3

Case: 33

DiseaseEntity: HCM

HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

InheritancePattern: n/a

CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

Variant: NM_000257.4(MYH7):c.5656-4G>A

ClinVar: 516360, https://www.ncbi.nlm.nih.gov/clinvar/variation/516360/

gnomAD: 0.00006011, https://gnomad.broadinstitute.org/variant/14-23883106-C-T

MultipleGeneVariants:

(1) CRYAB Variant

Variant: c.331G>A (p.Gly111Ser) unregistered variant

(2) DES Variant

Variant: NM_001927.4(DES):c.638C>T (p.Ala213Val)

ClinVar: 44265, https://www.ncbi.nlm.nih.gov/clinvar/variation/44265/

gnomAD: 0.009280, https://gnomad.broadinstitute.org/variant/2-220284876-C-T

(3) FKTN Variant

Variant: NM_006731.2(FKTN):c.1336A>G (p.Asn446Asp)

ClinVar: 36138, https://www.ncbi.nlm.nih.gov/clinvar/variation/36138/

gnomAD: 0.01093, https://gnomad.broadinstitute.org/variant/9-108397495-A-G

(4) MYBPC3 Variant

Variant: NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)

ClinVar: 42652, https://www.ncbi.nlm.nih.gov/clinvar/variation/42652/

gnomAD: 0.006194, https://gnomad.broadinstitute.org/variant/11-47357479-C-T