TABLE 2.

Representative list of patients with actionable variants.

Patient	Associated conditions with gene	Gene (ClinVar)	Nucleotide	Protein	rsID	Clinvar signature (interpretation)
2	Congenital long QT syndrome	KCNJ2	c.566G > T	p.Arg189Ile	rs199473381	Likely pathogenic(1)
12	Long QT syndrome	KCNQ1	c.914G > C	p.Trp305Ser	rs120074186	Pathogenic(2);Likely pathogenic(1)
29	Hereditary pancreatitis	SPINK1	c.101A > G	p.Asn34Ser	rs17107315	Risk factor(2);Pathogenic(4);Uncertain significance(3)
	Cystic fibrosis; Hereditary pancreatitis	CFTR	c.3154T > G	p.Phe1052Val	rs150212784	Likely pathogenic(3);Pathogenic(2);Uncertain significance(4);Drug-response(1)
30	Cardiac arrhythmia; Long QT syndrome	ANK2	c.11716C > T	p.Arg3906Trp	rs121912706	Likely benign(4);Pathogenic(2);Uncertain significance(2)
32	Malignant tumor of prostate; Hereditary cancer-predisposing syndrome	MSR1	c.877C > T	p.Arg293*	rs41341748	Pathogenic(1);Uncertain significance(3);Benign(1)
	Hereditary prostate cancer	RNASEL	c.793G > T	p.Glu265*	rs74315364	Pathogenic(1);Likely benign(1);Uncertain significance(1)
	Long QT syndrome	KCNE1	c.253G > A	p.Asp85Asn	rs1805128	Benign(5);Likely benign(5);risk factor(3);Pathogenic(1);Likely pathogenic(1);Uncertain significance(2)
43	Thrombophilia, Thyroid cancer	HABP2	c.1601G > A	p.Gly534Glu	rs7080536	Risk factor(2);Likely benign(1);Benign(1)
	Thrombophilia	F5	c.A1601G	p.Q534R	rs6025	Pathogenic(4);Risk factor(4);Benign(1)
52	Hereditary cancer risk	CHEK2	c.470T > C	p.Ile157Thr	rs17879961	Likely pathogenic(8);Pathogenic(9);Risk factor(3);Uncertain significance(2)
	MYH-associated polyposis; Hereditary cancer-predisposing syndrome	MUTYH	c.1437_1439delGGA	p.Glu480del	rs587778541	Pathogenic(14)
56	Prothrombin deficiency, congenital; Thrombophilia	F2	c.*97G > A		rs1799963	Pathogenic(4);Risk factor(4)
	Thrombophilia	F5	c.A1601G	p.Q534R	rs6025	Pathogenic(4);Risk factor(4);Benign(1)
81	Hereditary cancer-predisposing syndrome	RAD50	c.2801del	p.Asn934fs	rs748536322	Pathogenic(1)
84	Hereditary cancer-predisposing syndrome	NBN	c.511A > G	p.Ile171Val	rs61754966	Benign(3);Likely benign(1);Uncertain significance(11);Pathogenic(1);Risk factor(1)
91	Familial adenomatous polyposis	APC	c.3920T > A	p.Ile1307Lys	rs1801155	Likely benign(1);Likely pathogenic(3);Pathogenic(1);Uncertain significance(10);Risk factor(9)
92	Hereditary cancer risk	CHEK2	c.470T > C	p.Ile157Thr	rs17879961	Likely pathogenic(8);Pathogenic(9);Risk factor(3);Uncertain significance(2)
94	Prothrombin deficiency, congenital; Thrombophilia	F2	c.*97G > A		rs1799963	Pathogenic(4);Risk factor(4)

The full table is given in Supplementary File S2. The asterisk denotes the variant in Clinvar https://www.ncbi.nlm.nih.gov/clinvar/variation/13310/.