"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257999	NM_001369.3(DNAH5):c.13338+16C>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 445801	NM_001369.3(DNAH5):c.11017T>C (p.Ser3673Pro)	DNAH5 (S3673P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226605	NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile)	DNAH5 (V2307I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 238984	NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val)	DNAH5 (L2235V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 258053	NM_001369.3(DNAH5):c.6579+20G>A	DNAH5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 351094	NM_001369.3(DNAH5):c.5272-15dup	DNAH5	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 258016	NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala)	DNAH5 (G100A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

ClinVar