"Genome-Nilou Lab"[submitter] AND "DNAH9"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 402773	NM_001372.4(DNAH9):c.429C>T (p.Pro143=)	DNAH9	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1233984	NM_001372.4(DNAH9):c.1334A>G (p.Gln445Arg)	DNAH9 (Q445R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1255516	NM_001372.4(DNAH9):c.2929-18G>A	DNAH9, LOC126862505	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign
Select item 402776	NM_001372.4(DNAH9):c.3369T>C (p.Asp1123=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 402777	NM_001372.4(DNAH9):c.6330C>T (p.Asn2110=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 402778	NM_001372.4(DNAH9):c.6584A>G (p.Asn2195Ser)	DNAH9 (N2195S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1243755	NM_001372.4(DNAH9):c.8808C>T (p.Asn2936=)	DNAH9	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign
Select item 1252963	NM_001372.4(DNAH9):c.9247-17G>A	DNAH9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 402780	NM_001372.4(DNAH9):c.9247-14C>T	DNAH9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 402782	NM_001372.4(DNAH9):c.9744C>G (p.Pro3248=)	DNAH9	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1247792	NM_001372.4(DNAH9):c.10243-26G>A	DNAH9, LOC101928350	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign
Select item 402783	NM_001372.4(DNAH9):c.10855T>C (p.Leu3619=)	DNAH9, LOC101928350	Single nucleotide variant (synonymous variant +1 more)	Ciliary dyskinesia, primary, 40 +2 more	GBenign
Select item 1255517	NM_001372.4(DNAH9):c.11014C>A (p.Arg3672=)	DNAH9	Single nucleotide variant (synonymous variant +1 more)	Ciliary dyskinesia, primary, 40	GBenign