C1837618[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526034	NM_001369.3(DNAH5):c.9956T>G (p.Ile3319Ser)	DNAH5 (I3319S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 1687442	NM_001369.3(DNAH5):c.7231-11_7240del	DNAH5	Deletion (splice acceptor variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 220581	NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter)	DNAH5 (K1853*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic
Select item 1687545	NM_001369.3(DNAH5):c.5276A>G (p.Tyr1759Cys)	DNAH5 (Y1759C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 1526204	NM_001369.3(DNAH5):c.4556T>A (p.Ile1519Asn)	DNAH5 (I1519N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 454748	NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter)	DNAH5 (R478*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic

ClinVar