"Biology Pathology Center, Lille University Hospital"[submitter] AND " - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 869372	NM_001369.3(DNAH5):c.12973C>T (p.Gln4325Ter)	DNAH5 (Q4325*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GPathogenic
Select item 869386	NM_001369.3(DNAH5):c.9606-136_10101+1204delinsTTA	DNAH5	Indel (splice acceptor variant +1 more)	Primary ciliary dyskinesia 3	GPathogenic
Select item 869380	NM_001369.3(DNAH5):c.8396G>A (p.Arg2799Gln)	DNAH5 (R2799Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 454789	NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)	DNAH5 (R2013*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 576377	NM_001369.3(DNAH5):c.5059C>T (p.Gln1687Ter)	DNAH5 (Q1687*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 869371	NM_001369.3(DNAH5):c.4643T>C (p.Leu1548Pro)	DNAH5 (L1548P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 869373	NM_001369.3(DNAH5):c.4113del (p.Gln1372fs)	DNAH5 (Q1372fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GPathogenic

ClinVar