Table 3.

Genetic variants of the pre-diagnostic genes identified in infertile patients negative to an NGS diagnostic test consisting of 110 genes.

	Gene	HGVS1 cDNA	HGVS1 protein	Reference ID according to NCBI	Consequence	Clinic relevance2	In silico prediction	ClinVar accession
Subject 1	DNAH11	NM_001277115.1:c.5805G>C	NP_001264044.1:p.Leu1935Phe	–	missense variant	–	deleterious	SCV001432675
	DNAI1	NM_001281428.1:c.1960C>T	NP_001268357.1:p.Arg654Cys	rs140820295	missense variant	uncertain significance	deleterious	SCV001432676
	GALNTL5	NM_145292.3:c.1256G>C	NP_660335.2:p.Arg419Pro	–	missense variant	–	deleterious	SCV001432677
Subject 2	DNAH5	NM_001369.2:c.5557A>T	NP_001360.1:p.Lys1853Ter	rs748618094	stop gained	pathogenic	–	SCV001432678
	AMELY	NM_001143.1:c.574-1G>A	–	rs760519968	splice acceptor variant	–	–	SCV001432679
Subject 3	CCDC40	NM_001243342.1:c.1945T>C	NP_001230271.1:p.Phe649Leu	–	missense variant	–	deleterious	SCV001432680
	CCDC40	NM_001243342.1:c.850G>C	NP_001230271.1:p.Asp284His	rs201042940	missense variant	uncertain significance	deleterious	SCV001432681
Subject 4	DNAH10	NM_207437.3:c.10174C>G	NP_997320.2:p.Pro3392Ala	rs143987578	missense variant	–	deleterious	SCV001432682
Subject 5	KLK4	NM_001302961.1:c.395C>T	NP_001289890.1:p.Pro132Leu	rs144350395	missense variant	–	deleterious	SCV001432683
Subject 6	DNAH10	NM_207437.3:c.10954G>A	NP_997320.2:p.Ala3652Thr	–	missense variant	–	deleterious	SCV001432684
	DNAH10	NM_207437.3:c.3514C>T	NP_997320.2:p.Leu1172Phe	rs778218750	missense variant	–	deleterious	SCV001432685
	DNAH10	NM_207437.3:c.3221A>G	NP_997320.2:p.Asn1074Ser	rs771006247	missense variant	–	benign	SCV001432686
Subject 7	DNAH11	NM_001277115.1:c.11804C>T	NP_001264044.1:p.Pro3935Leu	rs72658814	missense variant	uncertain significance	deleterious	SCV001432687
Subject 8	CFTR	NM_000492.3:c.3454G>C	NP_000483.3:p.Asp1152His	rs75541969	missense variant	pathogenic & drug response	deleterious	SCV001432688
Subject 9	CATSPER2	NM_001282309.2:c.842+1G>C	–	rs199516208	splice donor variant	–	–	SCV001432689
	KLK14	NM_001311182.1:c.700G>A	NP_001298111.1:p.Val234Met	rs201317571	missense variant	–	deleterious	SCV001432690
Subject 10	ADCY10	NM_001297772.1:c.90T>A	NP_001284701.1:p.Cys30Ter	–	stop gained	–	–	SCV001432691

¹All identified variants are indicated both by cDNA base sequence (third column) and by protein sequence (fourth column) according to the HGVS (Human Genome Variation Society) nomenclature guidelines.

²Information reported in NCBI (National Centre for Biotechnology Information) database.