"New York Genome Center"[submitter] AND "DNAH5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 966291	NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys)	DNAH5 (N3577K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 525314	NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu)	DNAH5 (V2746L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2665064	NM_001369.3(DNAH5):c.[2577+5T>G;5413C>T]	DNAH5 (R1805C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 1797023	NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys)	DNAH5 (E957K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2665069	NM_001369.3(DNAH5):c.2260-2552G>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 644218	NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter)	DNAH5 (R618*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +2 more	GPathogenic

ClinVar