"Revvity Omics, Revvity"[submitter] AND "DNAH9"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2058097	NM_001372.4(DNAH9):c.250C>T (p.Arg84Cys)	DNAH9 (R84C)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GConflicting classifications of pathogenicity
Select item 523437	NM_001372.4(DNAH9):c.308dup (p.Leu104fs)	DNAH9 (L104fs)	Duplication (frameshift variant)	Ciliary dyskinesia, primary, 40 +1 more	GPathogenic
Select item 1322757	NM_001372.4(DNAH9):c.760_761del (p.Phe254fs)	DNAH9 (F254fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 40	GPathogenic
Select item 2440924	NM_001372.4(DNAH9):c.3386G>T (p.Ser1129Ile)	DNAH9 (S1129I)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 1419177	NM_001372.4(DNAH9):c.3593G>C (p.Trp1198Ser)	DNAH9 (W1198S)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GUncertain significance
Select item 1496658	NM_001372.4(DNAH9):c.5383G>A (p.Ala1795Thr)	DNAH9 (A1795T)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +2 more	GUncertain significance
Select item 1311784	NM_001372.4(DNAH9):c.6283G>A (p.Gly2095Arg)	DNAH9 (G2095R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1352499	NM_001372.4(DNAH9):c.6457G>A (p.Ala2153Thr)	DNAH9 (A2153T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1899712	NM_001372.4(DNAH9):c.7409G>A (p.Arg2470Gln)	DNAH9 (R2470Q)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GUncertain significance
Select item 1324274	NM_001372.4(DNAH9):c.8839C>T (p.Arg2947Ter)	DNAH9 (R2947*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 40	GLikely pathogenic
Select item 1446125	NM_001372.4(DNAH9):c.9203G>T (p.Arg3068Leu)	DNAH9 (R3068L)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GUncertain significance
Select item 2440923	NM_001372.4(DNAH9):c.10139T>C (p.Ile3380Thr)	DNAH9 (I3380T)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40	GUncertain significance
Select item 1324278	NM_001372.4(DNAH9):c.11599C>T (p.Arg3867Ter)	DNAH9 (R179* +1 more)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 40	GLikely pathogenic
Select item 1324282	NM_001372.4(DNAH9):c.12106-1G>A	DNAH9	Single nucleotide variant (splice acceptor variant)	Ciliary dyskinesia, primary, 40	GLikely pathogenic
Select item 2440922	NM_001372.4(DNAH9):c.13415del (p.Pro4472fs)	DNAH9 (P4472fs +1 more)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 40	GUncertain significance