Supplementary Data Table S3

Case: 107

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.1178C>T (p.Ala393Val)

ClinVar: 222721 https://www.ncbi.nlm.nih.gov/clinvar/variation/222721/

gnomAD: Not in gnomAD

MultipleGeneVariants:

(1) DSP Variant

Variant: NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)

ClinVar: 44929 https://www.ncbi.nlm.nih.gov/clinvar/variation/44929/

gnomAD: 0.02491, https://gnomad.broadinstitute.org/variant/6-7582993-A-T

(2) FHL2 Variant

Variant: NM_201555.1:c.-144C>T

CAID: CA1814921 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA1814921

gnomAD: 0.01323 https://gnomad.broadinstitute.org/variant/2-106006683-G-A

Supplementary Data Table S3

Case: 258

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.958G>A (p.Val320Met)

ClinVar: 161328 https://www.ncbi.nlm.nih.gov/clinvar/variation/161328/

gnomAD: 0.00006154, https://gnomad.broadinstitute.org/variant/14-23899810-C-T

MultipleGeneVariants:

(1) FHL2 Variant

Variant: NM_001450.3:c.476C>T (p.Ala159Val)

CAID: CA347999492 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA347999492

gnomAD: Not in gnomAD

(2) NEXN Variant

Variant: NM_144573.3(NEXN):c.995A>C (p.Glu332Ala)

ClinVar: 47915 https://www.ncbi.nlm.nih.gov/clinvar/variation/47915/

gnomAD: 0.01350, https://gnomad.broadinstitute.org/variant/1-78395131-A-C

(3) TMPO Variant

Variant: NM_001032284.2:c.318T>A (p.Asp106Glu)

CAID: CA6732167 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA6732167

gnomAD: 0.0005880, https://gnomad.broadinstitute.org/variant/12-98921702-T-A