"Baylor Genetics"[submitter] AND "DNAH9"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1455970	NM_001372.4(DNAH9):c.308del (p.Phe103fs)	DNAH9 (F103fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 40 +3 more	GConflicting classifications of pathogenicity
Select item 2441968	NM_001372.4(DNAH9):c.1858C>T (p.Arg620Cys)	DNAH9 (R620C)	Single nucleotide variant (missense variant)	DNAH9-related condition +1 more	GUncertain significance
Select item 1372359	NM_001372.4(DNAH9):c.2354G>A (p.Gly785Asp)	DNAH9 (G785D)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GUncertain significance
Select item 2441824	NM_001372.4(DNAH9):c.3583C>T (p.Pro1195Ser)	DNAH9 (P1195S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1311784	NM_001372.4(DNAH9):c.6283G>A (p.Gly2095Arg)	DNAH9 (G2095R)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GUncertain significance
Select item 2149750	NM_001372.4(DNAH9):c.7513G>A (p.Val2505Met)	DNAH9 (V2505M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1439891	NM_001372.4(DNAH9):c.10460C>G (p.Thr3487Arg)	DNAH9, LOC101928350 (T3487R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029327	NM_001372.4(DNAH9):c.12925C>T (p.Arg4309Ter)	DNAH9 (R621* +1 more)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 40	GLikely pathogenic