DNAH9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1246298	NC_000017.11:g.11598413C>A	DNAH9	Single nucleotide variant	not provided	GBenign
Select item 3044413	NM_001372.4(DNAH9):c.-2C>T	DNAH9	Single nucleotide variant (5 prime UTR variant)	DNAH9-related disorder	GBenign
Select item 2957745	NM_001372.4(DNAH9):c.8_35del (p.Leu3fs)	DNAH9 (L3fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1970443	NM_001372.4(DNAH9):c.3G>A (p.Met1Ile)	DNAH9 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1525609	NM_001372.4(DNAH9):c.14_34del (p.Glu5_Ala11del)	DNAH9	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2806579	NM_001372.4(DNAH9):c.7C>G (p.Leu3Val)	DNAH9 (L3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200783	NM_001372.4(DNAH9):c.7C>T (p.Leu3Phe)	DNAH9 (L3F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920189	NM_001372.4(DNAH9):c.15G>A (p.Glu5=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992905	NM_001372.4(DNAH9):c.19_41delinsAACGCGGATGGGGAACCCGGCGCCGAC (p.Arg7fs)	DNAH9 (R7fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2187249	NM_001372.4(DNAH9):c.24C>T (p.Ala8=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961482	NM_001372.4(DNAH9):c.24C>G (p.Ala8=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3031320	NM_001372.4(DNAH9):c.27G>T (p.Ala9=)	DNAH9	Single nucleotide variant (synonymous variant)	DNAH9-related disorder	GLikely benign
Select item 2077026	NM_001372.4(DNAH9):c.30C>T (p.Leu10=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464229	NM_001372.4(DNAH9):c.39G>C (p.Glu13Asp)	DNAH9 (E13D)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +2 more	GUncertain significance
Select item 774512	NM_001372.4(DNAH9):c.44_68dup (p.Arg24fs)	DNAH9 (R24fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 1570552	NM_001372.4(DNAH9):c.42C>G (p.Asn14Lys)	DNAH9 (N14K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2901837	NM_001372.4(DNAH9):c.45G>A (p.Ala15=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3272970	NM_001372.4(DNAH9):c.56C>G (p.Pro19Arg)	DNAH9 (P19R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2798742	NM_001372.4(DNAH9):c.60C>T (p.Gly20=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565344	NM_001372.4(DNAH9):c.60C>A (p.Gly20=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3084227	NM_001372.4(DNAH9):c.61G>T (p.Ala21Ser)	DNAH9 (A21S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2057919	NM_001372.4(DNAH9):c.69A>C (p.Arg23=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2782150	NM_001372.4(DNAH9):c.70C>T (p.Arg24Ter)	DNAH9 (R24*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1350370	NM_001372.4(DNAH9):c.70C>G (p.Arg24Gly)	DNAH9 (R24G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2869506	NM_001372.4(DNAH9):c.71G>A (p.Arg24Gln)	DNAH9 (R24Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072831	NM_001372.4(DNAH9):c.72A>C (p.Arg24=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3084233	NM_001372.4(DNAH9):c.74T>A (p.Leu25Gln)	DNAH9 (L25Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2794126	NM_001372.4(DNAH9):c.99C>T (p.Ala33=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105057	NM_001372.4(DNAH9):c.100A>G (p.Met34Val)	DNAH9 (M34V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027117	NM_001372.4(DNAH9):c.105C>G (p.Ser35Arg)	DNAH9 (S35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005254	NM_001372.4(DNAH9):c.109C>T (p.Arg37Trp)	DNAH9 (R37W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814743	NM_001372.4(DNAH9):c.109C>A (p.Arg37=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514279	NM_001372.4(DNAH9):c.113C>T (p.Pro38Leu)	DNAH9 (P38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1367057	NM_001372.4(DNAH9):c.124G>T (p.Ala42Ser)	DNAH9 (A42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964356	NM_001372.4(DNAH9):c.153G>C (p.Glu51Asp)	DNAH9 (E51D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917529	NM_001372.4(DNAH9):c.156G>C (p.Ala52=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421824	NM_001372.4(DNAH9):c.158A>C (p.Glu53Ala)	DNAH9 (E53A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1719323	NM_001372.4(DNAH9):c.177C>G (p.Phe59Leu)	DNAH9 (F59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133814	NM_001372.4(DNAH9):c.180G>C (p.Leu60=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654990	NM_001372.4(DNAH9):c.180G>A (p.Leu60=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1396635	NM_001372.4(DNAH9):c.181G>C (p.Gly61Arg)	DNAH9 (G61R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1401154	NM_001372.4(DNAH9):c.187G>C (p.Asp63His)	DNAH9 (D63H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711658	NM_001372.4(DNAH9):c.201G>A (p.Gly67=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3272967	NM_001372.4(DNAH9):c.203C>G (p.Pro68Arg)	DNAH9 (P68R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1294645	NM_001372.4(DNAH9):c.208C>T (p.Pro70Ser)	DNAH9 (P70S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3358598	NM_001372.4(DNAH9):c.209C>T (p.Pro70Leu)	DNAH9 (P70L)	Single nucleotide variant (missense variant)	DNAH9-related disorder	GUncertain significance
Select item 2026513	NM_001372.4(DNAH9):c.213G>C (p.Leu71=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137080	NM_001372.4(DNAH9):c.214C>T (p.Leu72=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197573	NM_001372.4(DNAH9):c.220G>A (p.Val74Met)	DNAH9 (V74M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2430875	NM_001372.4(DNAH9):c.221T>G (p.Val74Gly)	DNAH9 (V74G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642328	NM_001372.4(DNAH9):c.228C>G (p.Pro76=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3371578	NM_001372.4(DNAH9):c.229G>C (p.Gly77Arg)	DNAH9 (G77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030871	NM_001372.4(DNAH9):c.234C>G (p.Pro78=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571773	NM_001372.4(DNAH9):c.234C>T (p.Pro78=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084608	NM_001372.4(DNAH9):c.235A>G (p.Arg79Gly)	DNAH9 (R79G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863249	NM_001372.4(DNAH9):c.238G>T (p.Gly80Cys)	DNAH9 (G80C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2273642	NM_001372.4(DNAH9):c.245C>T (p.Ala82Val)	DNAH9 (A82V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1367974	NM_001372.4(DNAH9):c.253C>T (p.Pro85Ser)	DNAH9 (P85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2969871	NM_001372.4(DNAH9):c.255C>T (p.Pro85=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353955	NM_001372.4(DNAH9):c.257G>C (p.Gly86Ala)	DNAH9 (G86A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008308	NM_001372.4(DNAH9):c.259C>T (p.Leu87=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540786	NM_001372.4(DNAH9):c.261G>A (p.Leu87=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2248359	NM_001372.4(DNAH9):c.271C>T (p.Pro91Ser)	DNAH9 (P91S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2814654	NM_001372.4(DNAH9):c.272C>G (p.Pro91Arg)	DNAH9 (P91R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1455970	NM_001372.4(DNAH9):c.308del (p.Phe103fs)	DNAH9 (F103fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 40 +1 more	GPathogenic/Likely pathogenic
Select item 1273191	NM_001372.4(DNAH9):c.306T>C (p.Phe102=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1630804	NM_001372.4(DNAH9):c.308T>C (p.Phe103Ser)	DNAH9 (F103S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1624559	NM_001372.4(DNAH9):c.308T>G (p.Phe103Cys)	DNAH9 (F103C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1458739	NM_001372.4(DNAH9):c.310dup (p.Leu104fs)	DNAH9 (L104fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1611966	NM_001372.4(DNAH9):c.309C>A (p.Phe103Leu)	DNAH9 (F103L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2113389	NM_001372.4(DNAH9):c.313C>G (p.Arg105Gly)	DNAH9 (R105G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171163	NM_001372.4(DNAH9):c.314G>A (p.Arg105His)	DNAH9 (R105H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1951148	NM_001372.4(DNAH9):c.315C>G (p.Arg105=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002443	NM_001372.4(DNAH9):c.317C>T (p.Thr106Ile)	DNAH9 (T106I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121550	NM_001372.4(DNAH9):c.327_341del (p.Glu109_Pro113del)	DNAH9	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1960034	NM_001372.4(DNAH9):c.322C>T (p.Pro108Ser)	DNAH9 (P108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963743	NM_001372.4(DNAH9):c.324C>G (p.Pro108=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957557	NM_001372.4(DNAH9):c.324C>T (p.Pro108=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962185	NM_001372.4(DNAH9):c.337C>T (p.Pro113Ser)	DNAH9 (P113S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711860	NM_001372.4(DNAH9):c.339C>T (p.Pro113=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914884	NM_001372.4(DNAH9):c.364T>G (p.Cys122Gly)	DNAH9 (C122G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800885	NM_001372.4(DNAH9):c.373C>T (p.Leu125=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057259	NM_001372.4(DNAH9):c.375G>T (p.Leu125=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185629	NM_001372.4(DNAH9):c.376C>T (p.Pro126Ser)	DNAH9 (P126S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942767	NM_001372.4(DNAH9):c.378C>T (p.Pro126=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2016388	NM_001372.4(DNAH9):c.387_417+413del	DNAH9	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2189918	NM_001372.4(DNAH9):c.388C>T (p.Leu130=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1589736	NM_001372.4(DNAH9):c.394C>G (p.His132Asp)	DNAH9 (H132D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2108518	NM_001372.4(DNAH9):c.395A>G (p.His132Arg)	DNAH9 (H132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170339	NM_001372.4(DNAH9):c.402C>G (p.Ala134=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972348	NM_001372.4(DNAH9):c.403G>A (p.Ala135Thr)	DNAH9 (A135T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2201350	NM_001372.4(DNAH9):c.406C>G (p.Leu136Val)	DNAH9 (L136V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412485	NM_001372.4(DNAH9):c.413C>T (p.Ser138Leu)	DNAH9 (S138L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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