ClinVar for MedGen (Select 1648365) - ClinVar

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Items: 78

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25849061.	NM_001372.4(DNAH9):c.12404T>C (p.Ile4135Thr) GRCh37: Chr17:11837303 GRCh38: Chr17:11933986	DNAH9	I4135T, I447T	Ciliary dyskinesia, primary, 40	Uncertain significance	criteria provided, single submitter
Select item 25849052.	NM_001372.4(DNAH9):c.13318C>T (p.Gln4440Ter) GRCh37: Chr17:11872701 GRCh38: Chr17:11969384	DNAH9	Q4440, Q752	Ciliary dyskinesia, primary, 40	Uncertain significance	criteria provided, single submitter
Select item 25827643.	NM_001372.4(DNAH9):c.10940C>G (p.Thr3647Ser) GRCh37: Chr17:11787036 GRCh38: Chr17:11883719	DNAH9, LOC101928350	T3647S	Ciliary dyskinesia, primary, 40	Uncertain significance (Oct 9, 2023)	no assertion criteria provided
Select item 24468804.	NM_001372.4(DNAH9):c.12047A>G (p.Asn4016Ser) GRCh37: Chr17:11833352 GRCh38: Chr17:11930035	DNAH9	N328S, N4016S	Ciliary dyskinesia, primary, 40	Uncertain significance	criteria provided, single submitter
Select item 24419685.	NM_001372.4(DNAH9):c.1858C>T (p.Arg620Cys) GRCh37: Chr17:11543658 GRCh38: Chr17:11640341	DNAH9	R620C	Ciliary dyskinesia, primary, 40	Uncertain significance (May 24, 2021)	criteria provided, single submitter
Select item 24418246.	NM_001372.4(DNAH9):c.3583C>T (p.Pro1195Ser) GRCh37: Chr17:11584046 GRCh38: Chr17:11680729	DNAH9	P1195S	not provided, Ciliary dyskinesia, primary, 40	Uncertain significance (Mar 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24409247.	NM_001372.4(DNAH9):c.3386G>T (p.Ser1129Ile) GRCh37: Chr17:11583106 GRCh38: Chr17:11679789	DNAH9	S1129I	Ciliary dyskinesia, primary, 40	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 24409238.	NM_001372.4(DNAH9):c.10139T>C (p.Ile3380Thr) GRCh37: Chr17:11775000 GRCh38: Chr17:11871683	DNAH9	I3380T	Ciliary dyskinesia, primary, 40	Uncertain significance (Nov 10, 2021)	criteria provided, single submitter
Select item 24409229.	NM_001372.4(DNAH9):c.13415del (p.Pro4472fs) GRCh37: Chr17:11872796 GRCh38: Chr17:11969479	DNAH9	P4472fs, P784fs	Ciliary dyskinesia, primary, 40	Uncertain significance (Nov 10, 2021)	criteria provided, single submitter
Select item 218653910.	NM_001372.4(DNAH9):c.8293del (p.Glu2765fs) GRCh37: Chr17:11700980 GRCh38: Chr17:11797663	DNAH9	E2765fs	not provided, Ciliary dyskinesia, primary, 40	Pathogenic/Likely pathogenic (May 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214975011.	NM_001372.4(DNAH9):c.7513G>A (p.Val2505Met) GRCh37: Chr17:11672607 GRCh38: Chr17:11769290	DNAH9	V2505M	not provided, Ciliary dyskinesia, primary, 40	Uncertain significance (Dec 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205809712.	NM_001372.4(DNAH9):c.250C>T (p.Arg84Cys) GRCh37: Chr17:11502065 GRCh38: Chr17:11598748	DNAH9	R84C	Ciliary dyskinesia, primary, 40, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 189971213.	NM_001372.4(DNAH9):c.7409G>A (p.Arg2470Gln) GRCh37: Chr17:11672503 GRCh38: Chr17:11769186	DNAH9	R2470Q	Ciliary dyskinesia, primary, 40, not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172237414.	NM_001372.4(DNAH9):c.4918C>T (p.Arg1640Ter) GRCh37: Chr17:11603093 GRCh38: Chr17:11699776	DNAH9, LOC126862506	R1640*	Ciliary dyskinesia, primary, 40	Likely pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 171014415.	NM_001372.4(DNAH9):c.5266C>T (p.Gln1756Ter) GRCh37: Chr17:11607634 GRCh38: Chr17:11704317	DNAH9	Q1756*	Ciliary dyskinesia, primary, 40	Pathogenic (Oct 5, 2022)	no assertion criteria provided
Select item 169875416.	NM_001372.4(DNAH9):c.11209T>C (p.Ser3737Pro) GRCh37: Chr17:11795190 GRCh38: Chr17:11891873	DNAH9	S3737P, S49P	Ciliary dyskinesia, primary, 40	Uncertain significance (Aug 12, 2019)	criteria provided, single submitter
Select item 166729817.	NM_001372.4(DNAH9):c.6297C>T (p.Pro2099=) GRCh37: Chr17:11648299 GRCh38: Chr17:11744982	DNAH9		not provided, Ciliary dyskinesia, primary, 40	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 165388718.	NM_001372.4(DNAH9):c.10853C>T (p.Thr3618Met) GRCh37: Chr17:11786949 GRCh38: Chr17:11883632	DNAH9, LOC101928350	T3618M	not provided, Inborn genetic diseases, Ciliary dyskinesia, primary, 40	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 164619919.	NM_001372.4(DNAH9):c.11284-20A>G GRCh37: Chr17:11797671 GRCh38: Chr17:11894354	DNAH9		Ciliary dyskinesia, primary, 40, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164325620.	NM_001372.4(DNAH9):c.12640G>T (p.Gly4214Cys) GRCh37: Chr17:11840819 GRCh38: Chr17:11937502	DNAH9	G4214C, G526C	Ciliary dyskinesia, primary, 40, not provided	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 162547421.	NM_001372.4(DNAH9):c.6259A>G (p.Met2087Val) GRCh37: Chr17:11648261 GRCh38: Chr17:11744944	DNAH9	M2087V	not provided, Ciliary dyskinesia, primary, 40	Benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160060722.	NM_001372.4(DNAH9):c.10422A>G (p.Lys3474=) GRCh37: Chr17:11778445 GRCh38: Chr17:11875128	DNAH9, LOC101928350		not provided, Ciliary dyskinesia, primary, 40	Benign/Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159915423.	NM_001372.4(DNAH9):c.4745+11G>A GRCh37: Chr17:11597326 GRCh38: Chr17:11694009	DNAH9		Ciliary dyskinesia, primary, 40, not provided	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158776724.	NM_001372.4(DNAH9):c.10971+10_10971+12del GRCh37: Chr17:11787074-11787076 GRCh38: Chr17:11883757-11883759	DNAH9, LOC101928350		not provided, Ciliary dyskinesia, primary, 40	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158207625.	NM_001372.4(DNAH9):c.6810C>T (p.His2270=) GRCh37: Chr17:11659956 GRCh38: Chr17:11756639	DNAH9		not provided, Ciliary dyskinesia, primary, 40	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157411326.	NM_001372.4(DNAH9):c.5691G>A (p.Ser1897=) GRCh37: Chr17:11622789 GRCh38: Chr17:11719472	DNAH9		not provided, Ciliary dyskinesia, primary, 40	Benign/Likely benign (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153622327.	NM_001372.4(DNAH9):c.11921A>T (p.Lys3974Met) GRCh37: Chr17:11833226 GRCh38: Chr17:11929909	DNAH9	K286M, K3974M	Inborn genetic diseases, Ciliary dyskinesia, primary, 40, not provided	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 149665828.	NM_001372.4(DNAH9):c.5383G>A (p.Ala1795Thr) GRCh37: Chr17:11607751 GRCh38: Chr17:11704434	DNAH9	A1795T	Ciliary dyskinesia, primary, 40, Inborn genetic diseases, not provided	Uncertain significance (Mar 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149274029.	NM_001372.4(DNAH9):c.11039C>T (p.Ala3680Val) GRCh37: Chr17:11790209 GRCh38: Chr17:11886892	DNAH9	A3680V	Inborn genetic diseases, not provided, Ciliary dyskinesia, primary, 40	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148152430.	NM_001372.4(DNAH9):c.7267G>A (p.Asp2423Asn) GRCh37: Chr17:11671866 GRCh38: Chr17:11768549	DNAH9	D2423N	not provided, Ciliary dyskinesia, primary, 40	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146422931.	NM_001372.4(DNAH9):c.39G>C (p.Glu13Asp) GRCh37: Chr17:11501854 GRCh38: Chr17:11598537	DNAH9	E13D	Inborn genetic diseases, not provided, Ciliary dyskinesia, primary, 40	Uncertain significance (Nov 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145597032.	NM_001372.4(DNAH9):c.308del (p.Phe103fs) GRCh37: Chr17:11502117 GRCh38: Chr17:11598800	DNAH9	F103fs	Ciliary dyskinesia, primary, 40, not provided, Ciliary dyskinesia, DNAH9-related condition	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 144612533.	NM_001372.4(DNAH9):c.9203G>T (p.Arg3068Leu) GRCh37: Chr17:11726308 GRCh38: Chr17:11822991	DNAH9	R3068L	not provided, Ciliary dyskinesia, primary, 40	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143989134.	NM_001372.4(DNAH9):c.10460C>G (p.Thr3487Arg) GRCh37: Chr17:11778483 GRCh38: Chr17:11875166	DNAH9, LOC101928350	T3487R	not provided, Ciliary dyskinesia, primary, 40	Uncertain significance (Dec 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143644335.	NM_001372.4(DNAH9):c.8893C>T (p.Arg2965Cys) GRCh37: Chr17:11725797 GRCh38: Chr17:11822480	DNAH9	R2965C	Ciliary dyskinesia, primary, 40, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141917736.	NM_001372.4(DNAH9):c.3593G>C (p.Trp1198Ser) GRCh37: Chr17:11584056 GRCh38: Chr17:11680739	DNAH9	W1198S	not provided, Ciliary dyskinesia, primary, 40	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137235937.	NM_001372.4(DNAH9):c.2354G>A (p.Gly785Asp) GRCh37: Chr17:11556078 GRCh38: Chr17:11652761	DNAH9	G785D	Ciliary dyskinesia, primary, 40, not provided	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135580038.	NM_001372.4(DNAH9):c.2584G>T (p.Ala862Ser) GRCh37: Chr17:11556308 GRCh38: Chr17:11652991	DNAH9	A862S	Ciliary dyskinesia, primary, 40, Inborn genetic diseases, not provided	Uncertain significance (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135249939.	NM_001372.4(DNAH9):c.6457G>A (p.Ala2153Thr) GRCh37: Chr17:11650930 GRCh38: Chr17:11747613	DNAH9	A2153T	Ciliary dyskinesia, primary, 40, not provided	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133325840.	NM_001372.4(DNAH9):c.6669G>A (p.Trp2223Ter) GRCh37: Chr17:11656208 GRCh38: Chr17:11752891	DNAH9	W2223*	Ciliary dyskinesia, primary, 40	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 132556341.	NM_001372.4(DNAH9):c.4778A>G (p.Tyr1593Cys) GRCh37: Chr17:11597670 GRCh38: Chr17:11694353	DNAH9	Y1593C	Ciliary dyskinesia, primary, 40	Uncertain significance (May 10, 2020)	criteria provided, single submitter
Select item 132556142.	NM_001372.4(DNAH9):c.2066C>T (p.Thr689Met) GRCh37: Chr17:11550484 GRCh38: Chr17:11647167	DNAH9	T689M	Ciliary dyskinesia, primary, 40, not provided	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 132428243.	NM_001372.4(DNAH9):c.12106-1G>A GRCh37: Chr17:11835330 GRCh38: Chr17:11932013	DNAH9		Ciliary dyskinesia, primary, 40	Likely pathogenic (Nov 10, 2021)	criteria provided, single submitter
Select item 132427844.	NM_001372.4(DNAH9):c.11599C>T (p.Arg3867Ter) GRCh37: Chr17:11806228 GRCh38: Chr17:11902911	DNAH9	R179, R3867	Ciliary dyskinesia, primary, 40	Likely pathogenic (Dec 2, 2019)	criteria provided, single submitter
Select item 132427445.	NM_001372.4(DNAH9):c.8839C>T (p.Arg2947Ter) GRCh37: Chr17:11725368 GRCh38: Chr17:11822051	DNAH9	R2947*	Ciliary dyskinesia, primary, 40	Likely pathogenic (Jul 31, 2020)	criteria provided, single submitter
Select item 132275746.	NM_001372.4(DNAH9):c.760_761del (p.Phe254fs) GRCh37: Chr17:11513858-11513859 GRCh38: Chr17:11610541-11610542	DNAH9	F254fs	Ciliary dyskinesia, primary, 40	Pathogenic (Mar 24, 2020)	criteria provided, single submitter
Select item 131178447.	NM_001372.4(DNAH9):c.6283G>A (p.Gly2095Arg) GRCh37: Chr17:11648285 GRCh38: Chr17:11744968	DNAH9	G2095R	Ciliary dyskinesia, primary, 40, not provided	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130409548.	NM_001372.4(DNAH9):c.11444G>A (p.Arg3815Gln) GRCh37: Chr17:11806073 GRCh38: Chr17:11902756	DNAH9	R127Q, R3815Q	not provided, Ciliary dyskinesia, primary, 40	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127319149.	NM_001372.4(DNAH9):c.306T>C (p.Phe102=) GRCh37: Chr17:11502121 GRCh38: Chr17:11598804	DNAH9		Ciliary dyskinesia, primary, 40, not provided	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 125551750.	NM_001372.4(DNAH9):c.11014C>A (p.Arg3672=) GRCh37: Chr17:11790184 GRCh38: Chr17:11886867	DNAH9		Ciliary dyskinesia, primary, 40	Benign (Jul 30, 2021)	criteria provided, single submitter
Select item 125551651.	NM_001372.4(DNAH9):c.2929-18G>A GRCh37: Chr17:11572669 GRCh38: Chr17:11669352	DNAH9, LOC126862505		not provided, Ciliary dyskinesia, primary, 40	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 125296352.	NM_001372.4(DNAH9):c.9247-17G>A GRCh37: Chr17:11737938 GRCh38: Chr17:11834621	DNAH9		Ciliary dyskinesia, primary, 40, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124779253.	NM_001372.4(DNAH9):c.10243-26G>A GRCh37: Chr17:11778240 GRCh38: Chr17:11874923	LOC101928350, DNAH9		not provided, Ciliary dyskinesia, primary, 40	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 124375554.	NM_001372.4(DNAH9):c.8808C>T (p.Asn2936=) GRCh37: Chr17:11725337 GRCh38: Chr17:11822020	DNAH9		Ciliary dyskinesia, primary, 40, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 123398455.	NM_001372.4(DNAH9):c.1334A>G (p.Gln445Arg) GRCh37: Chr17:11523082 GRCh38: Chr17:11619765	DNAH9	Q445R	not provided, Ciliary dyskinesia, primary, 40	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106545856.	NM_001372.4(DNAH9):c.4234C>T (p.Gln1412Ter) GRCh37: Chr17:11593373 GRCh38: Chr17:11690056	DNAH9	Q1412*	Ciliary dyskinesia, primary, 40	Pathogenic (Apr 16, 2020)	criteria provided, single submitter
Select item 105039557.	NM_001372.4(DNAH9):c.6518G>A (p.Arg2173Gln) GRCh37: Chr17:11650991 GRCh38: Chr17:11747674	DNAH9	R2173Q	Ciliary dyskinesia, primary, 40	Uncertain significance	no assertion criteria provided
Select item 102932758.	NM_001372.4(DNAH9):c.12925C>T (p.Arg4309Ter) GRCh37: Chr17:11865265 GRCh38: Chr17:11961948	DNAH9	R621, R4309	Ciliary dyskinesia, primary, 40	Likely pathogenic (Jan 15, 2020)	criteria provided, single submitter
Select item 98281259.	NM_001372.4(DNAH9):c.7345-5del GRCh37: Chr17:11672433 GRCh38: Chr17:11769116	DNAH9		Ciliary dyskinesia, primary, 40	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 77713260.	NM_001372.4(DNAH9):c.8598C>T (p.Ser2866=) GRCh37: Chr17:11713577 GRCh38: Chr17:11810260	DNAH9		Ciliary dyskinesia, primary, 40, not provided	Benign/Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 61752561.	NM_001372.4(DNAH9):c.10127dup (p.Leu3376fs) GRCh37: Chr17:11774986-11774987 GRCh38: Chr17:11871669-11871670	DNAH9	L3376fs	Ciliary dyskinesia, primary, 40	Pathogenic (Jan 29, 2019)	no assertion criteria provided
Select item 61752462.	NM_001372.4(DNAH9):c.3354-1G>T GRCh37: Chr17:11583073 GRCh38: Chr17:11679756	DNAH9		Ciliary dyskinesia, primary, 40	Pathogenic (Jan 29, 2020)	no assertion criteria provided
Select item 61752363.	NM_001372.4(DNAH9):c.1970+4A>G GRCh37: Chr17:11548020 GRCh38: Chr17:11644703	DNAH9		not provided	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 61752264.	NM_001372.4(DNAH9):c.[5641A>G;8894G>A] GRCh37: Chr17:11622739 Chr17:11725798 GRCh38: Chr17:11719422 Chr17:11822481	DNAH9, DNAH9	K1881E, R2965H	Ciliary dyskinesia, primary, 40	Pathogenic (Jan 29, 2019)	no assertion criteria provided
Select item 61752165.	NM_001372.4(DNAH9):c.8251C>T (p.Gln2751Ter) GRCh37: Chr17:11700941 GRCh38: Chr17:11797624	DNAH9	Q2751*	Ciliary dyskinesia, primary, 40	Pathogenic (Jan 29, 2019)	no assertion criteria provided
Select item 61752066.	NM_001372.4(DNAH9):c.8708-2A>G GRCh37: Chr17:11725235 GRCh38: Chr17:11821918	DNAH9		Ciliary dyskinesia, primary, 40	Pathogenic (Jan 29, 2019)	no assertion criteria provided
Select item 61751967.	NM_001372.4(DNAH9):c.10193G>T (p.Arg3398Leu) GRCh37: Chr17:11775054 GRCh38: Chr17:11871737	DNAH9	R3398L	Ciliary dyskinesia, primary, 40	Pathogenic (Jan 29, 2019)	no assertion criteria provided
Select item 61751868.	NM_001372.4(DNAH9):c.12367G>A (p.Asp4123Asn) GRCh37: Chr17:11837266 GRCh38: Chr17:11933949	DNAH9	D4123N, D435N	Ciliary dyskinesia, primary, 40	Pathogenic (Jan 29, 2019)	no assertion criteria provided
Select item 52343769.	NM_001372.4(DNAH9):c.308dup (p.Leu104fs) GRCh37: Chr17:11502116-11502117 GRCh38: Chr17:11598799-11598800	DNAH9	L104fs	Abnormal cardiovascular system morphology, not provided, Ciliary dyskinesia, primary, 40	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 52343670.	NM_001372.4(DNAH9):c.11666C>G (p.Ser3889Ter) GRCh37: Chr17:11809043 GRCh38: Chr17:11905726	DNAH9	S3889, S201	Abnormal cardiovascular system morphology, Ciliary dyskinesia, primary, 40	Uncertain significance (Jan 1, 2017)	criteria provided, single submitter
Select item 40278371.	NM_001372.4(DNAH9):c.10855T>C (p.Leu3619=) GRCh37: Chr17:11786951 GRCh38: Chr17:11883634	DNAH9, LOC101928350		not specified, Ciliary dyskinesia, primary, 40, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40278272.	NM_001372.4(DNAH9):c.9744C>G (p.Pro3248=) GRCh37: Chr17:11757556 GRCh38: Chr17:11854239	DNAH9		Ciliary dyskinesia, primary, 40, not specified, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40278173.	NM_001372.4(DNAH9):c.9543G>A (p.Pro3181=) GRCh37: Chr17:11757355 GRCh38: Chr17:11854038	DNAH9		Ciliary dyskinesia, primary, 40, not specified, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40278074.	NM_001372.4(DNAH9):c.9247-14C>T GRCh37: Chr17:11737941 GRCh38: Chr17:11834624	DNAH9		not specified, not provided, Ciliary dyskinesia, primary, 40	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40277875.	NM_001372.4(DNAH9):c.6584A>G (p.Asn2195Ser) GRCh37: Chr17:11651057 GRCh38: Chr17:11747740	DNAH9	N2195S	Ciliary dyskinesia, primary, 40, not provided, not specified	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40277776.	NM_001372.4(DNAH9):c.6330C>T (p.Asn2110=) GRCh37: Chr17:11648332 GRCh38: Chr17:11745015	DNAH9		Ciliary dyskinesia, primary, 40, not provided, not specified	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40277677.	NM_001372.4(DNAH9):c.3369T>C (p.Asp1123=) GRCh37: Chr17:11583089 GRCh38: Chr17:11679772	DNAH9		Ciliary dyskinesia, primary, 40, not provided, not specified	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40277378.	NM_001372.4(DNAH9):c.429C>T (p.Pro143=) GRCh37: Chr17:11511457 GRCh38: Chr17:11608140	DNAH9		Ciliary dyskinesia, primary, 40, not specified, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 78