ClinVar for MedGen (Select 896106) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24246341.	NM_031924.8(RSPH3):c.-389G>C GRCh37: Chr6:159420971 GRCh38: Chr6:158999939	RSPH3, TAGAP-AS1	R13T	Primary ciliary dyskinesia 32	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 24204882.	NM_031924.8(RSPH3):c.860-19A>G GRCh37: Chr6:159399397 GRCh38: Chr6:158978365	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 24170133.	NM_031924.8(RSPH3):c.-203G>C GRCh37: Chr6:159420785 GRCh38: Chr6:158999753	RSPH3	G75A	Primary ciliary dyskinesia 32	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 21993464.	NM_031924.8(RSPH3):c.-250C>T GRCh37: Chr6:159420832 GRCh38: Chr6:158999800	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 21823275.	NM_031924.8(RSPH3):c.203T>A (p.Leu68Gln) GRCh37: Chr6:159414872 GRCh38: Chr6:158993840	RSPH3	L210Q, L68Q	Primary ciliary dyskinesia 32	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 21710896.	NM_031924.8(RSPH3):c.789G>A (p.Leu263=) GRCh37: Chr6:159401876 GRCh38: Chr6:158980844	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 21612497.	NM_031924.8(RSPH3):c.-418C>G GRCh37: Chr6:159421000 GRCh38: Chr6:158999968	RSPH3, TAGAP-AS1		Primary ciliary dyskinesia 32	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 21591278.	NM_031924.8(RSPH3):c.946+20A>T GRCh37: Chr6:159399272 GRCh38: Chr6:158978240	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 21586099.	NM_031924.8(RSPH3):c.799C>T (p.Leu267Phe) GRCh37: Chr6:159401866 GRCh38: Chr6:158980834	RSPH3	L267F, L313F	Primary ciliary dyskinesia 32	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 215832610.	NM_031924.8(RSPH3):c.1141A>G (p.Thr381Ala) GRCh37: Chr6:159398686 GRCh38: Chr6:158977654	RSPH3	T381A, T427A	Inborn genetic diseases, Primary ciliary dyskinesia 32	Uncertain significance (Apr 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214386511.	NM_031924.8(RSPH3):c.-405G>A GRCh37: Chr6:159420987 GRCh38: Chr6:158999955	RSPH3, TAGAP-AS1	A8T	Primary ciliary dyskinesia 32	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 214386412.	NM_031924.8(RSPH3):c.241C>T (p.Arg81Trp) GRCh37: Chr6:159407417 GRCh38: Chr6:158986385	RSPH3	R81W	Primary ciliary dyskinesia 32	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 213994513.	NM_031924.8(RSPH3):c.149T>C (p.Met50Thr) GRCh37: Chr6:159414926 GRCh38: Chr6:158993894	RSPH3	M192T, M50T	Primary ciliary dyskinesia 32	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 213903014.	NM_031924.8(RSPH3):c.741C>T (p.Asn247=) GRCh37: Chr6:159401924 GRCh38: Chr6:158980892	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 213204615.	NM_031924.8(RSPH3):c.493-8T>A GRCh37: Chr6:159403728 GRCh38: Chr6:158982696	RSPH3		Primary ciliary dyskinesia 32	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 212217616.	NM_031924.8(RSPH3):c.-357G>A GRCh37: Chr6:159420939 GRCh38: Chr6:158999907	RSPH3, TAGAP-AS1	G24S	Primary ciliary dyskinesia 32	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 211338717.	NM_031924.8(RSPH3):c.116+12A>T GRCh37: Chr6:159420455 GRCh38: Chr6:158999423	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 210102818.	NM_031924.8(RSPH3):c.-306C>G GRCh37: Chr6:159420888 GRCh38: Chr6:158999856	RSPH3	L41V	Primary ciliary dyskinesia 32	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 209982619.	NM_031924.8(RSPH3):c.648T>C (p.Ala216=) GRCh37: Chr6:159403565 GRCh38: Chr6:158982533	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 209882220.	NM_031924.8(RSPH3):c.492+4C>T GRCh37: Chr6:159404690 GRCh38: Chr6:158983658	RSPH3		Primary ciliary dyskinesia 32	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 209251021.	NM_031924.8(RSPH3):c.-375C>G GRCh37: Chr6:159420957 GRCh38: Chr6:158999925	RSPH3, TAGAP-AS1	R18G	Primary ciliary dyskinesia 32	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 208442722.	NM_031924.8(RSPH3):c.-138C>G GRCh37: Chr6:159420720 GRCh38: Chr6:158999688	RSPH3	P97A	Primary ciliary dyskinesia 32	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 208358423.	NM_031924.8(RSPH3):c.644G>A (p.Arg215His) GRCh37: Chr6:159403569 GRCh38: Chr6:158982537	RSPH3	R215H, R261H	Primary ciliary dyskinesia 32	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 205754924.	NM_031924.8(RSPH3):c.347-11del GRCh37: Chr6:159404850 GRCh38: Chr6:158983818	RSPH3		Primary ciliary dyskinesia 32	Likely benign (May 23, 2022)	criteria provided, single submitter
Select item 205744925.	NM_031924.8(RSPH3):c.973A>C (p.Arg325=) GRCh37: Chr6:159398854 GRCh38: Chr6:158977822	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Feb 13, 2022)	criteria provided, single submitter
Select item 205334826.	NM_031924.8(RSPH3):c.346+17T>C GRCh37: Chr6:159407295 GRCh38: Chr6:158986263	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 204477927.	NM_031924.8(RSPH3):c.-421G>A GRCh37: Chr6:159421003 GRCh38: Chr6:158999971	TAGAP-AS1, RSPH3		Primary ciliary dyskinesia 32	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 204434128.	NM_031924.8(RSPH3):c.483A>G (p.Leu161=) GRCh37: Chr6:159404703 GRCh38: Chr6:158983671	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 204244529.	NM_031924.8(RSPH3):c.976C>T (p.Leu326=) GRCh37: Chr6:159398851 GRCh38: Chr6:158977819	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 203574130.	NM_031924.8(RSPH3):c.636T>G (p.Asn212Lys) GRCh37: Chr6:159403577 GRCh38: Chr6:158982545	RSPH3	N212K, N258K	Inborn genetic diseases, Primary ciliary dyskinesia 32	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202493631.	NM_031924.8(RSPH3):c.1173del (p.Lys392fs) GRCh37: Chr6:159398654 GRCh38: Chr6:158977622	RSPH3	K438fs, K392fs	Primary ciliary dyskinesia 32	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 202005232.	NM_031924.8(RSPH3):c.-396C>G GRCh37: Chr6:159420978 GRCh38: Chr6:158999946	RSPH3, TAGAP-AS1	L11V	Primary ciliary dyskinesia 32	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 201905333.	NM_031924.8(RSPH3):c.288G>A (p.Gln96=) GRCh37: Chr6:159407370 GRCh38: Chr6:158986338	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 198500034.	NM_031924.8(RSPH3):c.-151G>T GRCh37: Chr6:159420733 GRCh38: Chr6:158999701	RSPH3		Primary ciliary dyskinesia 32	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 198493335.	NM_031924.8(RSPH3):c.986A>G (p.Tyr329Cys) GRCh37: Chr6:159398841 GRCh38: Chr6:158977809	RSPH3	Y329C, Y375C	Primary ciliary dyskinesia 32	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 198166736.	NM_031924.8(RSPH3):c.-126C>A GRCh37: Chr6:159420708 GRCh38: Chr6:158999676	RSPH3	P101T	Primary ciliary dyskinesia 32	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 197180837.	NM_031924.8(RSPH3):c.864T>C (p.Ile288=) GRCh37: Chr6:159399374 GRCh38: Chr6:158978342	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 197048138.	NM_031924.8(RSPH3):c.170G>A (p.Arg57Gln) GRCh37: Chr6:159414905 GRCh38: Chr6:158993873	RSPH3	R199Q, R57Q	Primary ciliary dyskinesia 32	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 196393339.	NM_031924.8(RSPH3):c.179C>G (p.Thr60Ser) GRCh37: Chr6:159414896 GRCh38: Chr6:158993864	RSPH3	T60S, T202S	Primary ciliary dyskinesia 32	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 193757740.	NM_031924.8(RSPH3):c.-293C>G GRCh37: Chr6:159420875 GRCh38: Chr6:158999843	RSPH3	P45R	Primary ciliary dyskinesia 32	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 193757641.	NM_031924.8(RSPH3):c.-292del GRCh37: Chr6:159420874 GRCh38: Chr6:158999842	RSPH3	D47fs	Primary ciliary dyskinesia 32	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 193572042.	NM_031924.8(RSPH3):c.-345G>A GRCh37: Chr6:159420927 GRCh38: Chr6:158999895	RSPH3, TAGAP-AS1	G28R	Primary ciliary dyskinesia 32	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 193326843.	NM_031924.8(RSPH3):c.882A>G (p.Pro294=) GRCh37: Chr6:159399356 GRCh38: Chr6:158978324	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 191241644.	NM_031924.8(RSPH3):c.436C>G (p.Leu146Val) GRCh37: Chr6:159404750 GRCh38: Chr6:158983718	RSPH3	L146V	Primary ciliary dyskinesia 32	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 190871945.	NM_031924.8(RSPH3):c.-345G>C GRCh37: Chr6:159420927 GRCh38: Chr6:158999895	RSPH3, TAGAP-AS1	G28R	Primary ciliary dyskinesia 32	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 171792146.	NM_031924.8(RSPH3):c.529G>A (p.Glu177Lys) GRCh37: Chr6:159403684 GRCh38: Chr6:158982652	RSPH3	E177K, E223K	Primary ciliary dyskinesia 32	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 167026147.	NM_031924.8(RSPH3):c.66C>T (p.Pro22=) GRCh37: Chr6:159420517 GRCh38: Chr6:158999485	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Jun 26, 2021)	criteria provided, single submitter
Select item 166134548.	NM_031924.8(RSPH3):c.205-13C>T GRCh37: Chr6:159407466 GRCh38: Chr6:158986434	RSPH3		Primary ciliary dyskinesia 32	Benign (Oct 3, 2022)	criteria provided, single submitter
Select item 165817849.	NM_031924.8(RSPH3):c.373C>T (p.Arg125Cys) GRCh37: Chr6:159404813 GRCh38: Chr6:158983781	RSPH3	R125C	Primary ciliary dyskinesia 32	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 165679250.	NM_031924.8(RSPH3):c.947-7T>C GRCh37: Chr6:159398887 GRCh38: Chr6:158977855	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Dec 14, 2020)	criteria provided, single submitter
Select item 162611551.	NM_031924.8(RSPH3):c.-304T>G GRCh37: Chr6:159420886 GRCh38: Chr6:158999854	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Oct 10, 2021)	criteria provided, single submitter
Select item 161513352.	NM_031924.8(RSPH3):c.336T>C (p.Asp112=) GRCh37: Chr6:159407322 GRCh38: Chr6:158986290	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 161485853.	NM_031924.8(RSPH3):c.1149T>C (p.Tyr383=) GRCh37: Chr6:159398678 GRCh38: Chr6:158977646	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 160749954.	NM_031924.8(RSPH3):c.762C>T (p.Ala254=) GRCh37: Chr6:159401903 GRCh38: Chr6:158980871	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Aug 1, 2021)	criteria provided, single submitter
Select item 159842355.	NM_031924.8(RSPH3):c.347-16A>G GRCh37: Chr6:159404855 GRCh38: Chr6:158983823	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 159814756.	NM_031924.8(RSPH3):c.116+14C>T GRCh37: Chr6:159420453 GRCh38: Chr6:158999421	RSPH3		Primary ciliary dyskinesia 32	Benign (Aug 18, 2022)	criteria provided, single submitter
Select item 158973157.	NM_031924.8(RSPH3):c.204+16A>G GRCh37: Chr6:159414855 GRCh38: Chr6:158993823	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Aug 26, 2021)	criteria provided, single submitter
Select item 157163458.	NM_031924.8(RSPH3):c.1242G>A (p.Glu414=) GRCh37: Chr6:159398585 GRCh38: Chr6:158977553	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 153258459.	NM_031924.8(RSPH3):c.697-9del GRCh37: Chr6:159401977 GRCh38: Chr6:158980945	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 152620860.	NM_031924.8(RSPH3):c.346+1G>T GRCh37: Chr6:159407311 GRCh38: Chr6:158986279	RSPH3		Primary ciliary dyskinesia 32	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 151435461.	NM_031924.8(RSPH3):c.859+1G>A GRCh37: Chr6:159401805 GRCh38: Chr6:158980773	RSPH3		Primary ciliary dyskinesia 32	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 151412362.	NM_031924.8(RSPH3):c.26C>A (p.Thr9Asn) GRCh37: Chr6:159420557 GRCh38: Chr6:158999525	RSPH3	T151N, T9N	Primary ciliary dyskinesia 32	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 150604863.	NM_031924.8(RSPH3):c.-374G>A GRCh37: Chr6:159420956 GRCh38: Chr6:158999924	RSPH3, TAGAP-AS1	R18H	Primary ciliary dyskinesia 32	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 149040764.	NM_031924.8(RSPH3):c.547A>G (p.Thr183Ala) GRCh37: Chr6:159403666 GRCh38: Chr6:158982634	RSPH3	T183A, T229A	Primary ciliary dyskinesia 32	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 145734465.	NM_031924.8(RSPH3):c.-302_-301del GRCh37: Chr6:159420883-159420884 GRCh38: Chr6:158999851-158999852	RSPH3	P42fs	Primary ciliary dyskinesia 32	Pathogenic (Oct 10, 2021)	criteria provided, single submitter
Select item 145687666.	NC_000006.11:g.(?_159414851)_(159414978_?)del GRCh37: Chr6:159414851-159414978	RSPH3		Primary ciliary dyskinesia 32	Pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 145583367.	NM_031924.8(RSPH3):c.-220del GRCh37: Chr6:159420802 GRCh38: Chr6:158999770	RSPH3	A70fs	Primary ciliary dyskinesia 32	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 144696568.	NM_031924.8(RSPH3):c.89G>A (p.Ser30Asn) GRCh37: Chr6:159420494 GRCh38: Chr6:158999462	RSPH3	S172N, S30N	Primary ciliary dyskinesia 32	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 144638869.	NM_031924.8(RSPH3):c.-381G>A GRCh37: Chr6:159420963 GRCh38: Chr6:158999931	RSPH3, TAGAP-AS1	A16T	Primary ciliary dyskinesia 32	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 143952270.	NM_031924.8(RSPH3):c.907dup (p.Thr303fs) GRCh37: Chr6:159399330-159399331 GRCh38: Chr6:158978298-158978299	RSPH3	T349fs, T303fs	Primary ciliary dyskinesia 32	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 143947171.	NM_031924.8(RSPH3):c.1078T>C (p.Phe360Leu) GRCh37: Chr6:159398749 GRCh38: Chr6:158977717	RSPH3	F360L, F406L	Primary ciliary dyskinesia 32	Uncertain significance (Oct 22, 2021)	criteria provided, single submitter
Select item 143790272.	NC_000006.11:g.(?_158532398)_(160114199_?)dup GRCh37: Chr6:158532398-160114199	DYNLT1, EZR, FNDC1, GTF2H5, LINC02901, RSPH3, SERAC1, SOD2, SYTL3, TAGAP, TMEM181, TULP4		Primary ciliary dyskinesia 32	Uncertain significance (May 3, 2021)	criteria provided, single submitter
Select item 142358073.	NM_031924.8(RSPH3):c.-321C>T GRCh37: Chr6:159420903 GRCh38: Chr6:158999871	RSPH3	P36S	Primary ciliary dyskinesia 32	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 142076974.	NM_031924.8(RSPH3):c.-417A>T GRCh37: Chr6:159420999 GRCh38: Chr6:158999967	RSPH3, TAGAP-AS1	K4*	Primary ciliary dyskinesia 32	Pathogenic (Nov 27, 2021)	criteria provided, single submitter
Select item 139275975.	NM_031924.8(RSPH3):c.1086G>C (p.Glu362Asp) GRCh37: Chr6:159398741 GRCh38: Chr6:158977709	RSPH3	E362D, E408D	Primary ciliary dyskinesia 32	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 138039076.	NM_031924.8(RSPH3):c.-81C>G GRCh37: Chr6:159420663 GRCh38: Chr6:158999631	RSPH3	L116V	Primary ciliary dyskinesia 32	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 137540777.	NC_000006.11:g.(?_159420447)_(159421008_?)del GRCh37: Chr6:159420447-159421008	RSPH3		Primary ciliary dyskinesia 32	Pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 136605478.	NM_031924.8(RSPH3):c.-95G>A GRCh37: Chr6:159420677 GRCh38: Chr6:158999645	RSPH3	W111*	Primary ciliary dyskinesia 32	Pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 136578079.	NM_031924.8(RSPH3):c.546G>T (p.Lys182Asn) GRCh37: Chr6:159403667 GRCh38: Chr6:158982635	RSPH3	K182N, K228N	Primary ciliary dyskinesia 32	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 136542080.	NM_031924.8(RSPH3):c.-362A>G GRCh37: Chr6:159420944 GRCh38: Chr6:158999912	RSPH3, TAGAP-AS1	Y22C	Primary ciliary dyskinesia 32	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 135582581.	NM_031924.8(RSPH3):c.1106G>A (p.Arg369Gln) GRCh37: Chr6:159398721 GRCh38: Chr6:158977689	RSPH3	R415Q, R369Q	Primary ciliary dyskinesia 32	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 130179082.	NM_031924.8(RSPH3):c.-260dup GRCh37: Chr6:159420841-159420842 GRCh38: Chr6:158999809-158999810	RSPH3	D57fs	Primary ciliary dyskinesia 32	Pathogenic/Likely pathogenic (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117019683.	NM_031924.8(RSPH3):c.212G>A (p.Arg71Gln) GRCh37: Chr6:159407446 GRCh38: Chr6:158986414	RSPH3	R71Q	not provided, Primary ciliary dyskinesia 32	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117019584.	NM_031924.8(RSPH3):c.1127G>A (p.Gly376Asp) GRCh37: Chr6:159398700 GRCh38: Chr6:158977668	RSPH3	G376D, G422D	not provided, Primary ciliary dyskinesia 32	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117019485.	NM_031924.8(RSPH3):c.1194A>G (p.Glu398=) GRCh37: Chr6:159398633 GRCh38: Chr6:158977601	RSPH3		not provided, Primary ciliary dyskinesia 32	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116697586.	NM_031924.8(RSPH3):c.176A>G (p.Asn59Ser) GRCh37: Chr6:159414899 GRCh38: Chr6:158993867	RSPH3	N201S, N59S	Primary ciliary dyskinesia 32, not provided	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116697487.	NM_031924.8(RSPH3):c.890T>C (p.Met297Thr) GRCh37: Chr6:159399348 GRCh38: Chr6:158978316	RSPH3	M297T, M343T	Primary ciliary dyskinesia 32, not provided	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116697388.	NM_031924.8(RSPH3):c.1063C>T (p.Leu355=) GRCh37: Chr6:159398764 GRCh38: Chr6:158977732	RSPH3		Primary ciliary dyskinesia 32, not provided	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116500489.	NM_031924.8(RSPH3):c.9A>G (p.Ser3=) GRCh37: Chr6:159420574 GRCh38: Chr6:158999542	RSPH3		Primary ciliary dyskinesia 32, not provided	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115618290.	NM_031924.8(RSPH3):c.780G>A (p.Gln260=) GRCh37: Chr6:159401885 GRCh38: Chr6:158980853	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Sep 20, 2020)	criteria provided, single submitter
Select item 114876291.	NM_031924.8(RSPH3):c.1047A>T (p.Gly349=) GRCh37: Chr6:159398780 GRCh38: Chr6:158977748	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 114384692.	NM_031924.8(RSPH3):c.415T>C (p.Leu139=) GRCh37: Chr6:159404771 GRCh38: Chr6:158983739	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Feb 10, 2020)	criteria provided, single submitter
Select item 110547793.	NM_031924.8(RSPH3):c.1038T>C (p.Gly346=) GRCh37: Chr6:159398789 GRCh38: Chr6:158977757	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Feb 2, 2020)	criteria provided, single submitter
Select item 110219894.	NM_031924.8(RSPH3):c.1110G>A (p.Glu370=) GRCh37: Chr6:159398717 GRCh38: Chr6:158977685	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Oct 10, 2019)	criteria provided, single submitter
Select item 109937195.	NM_031924.8(RSPH3):c.-70C>T GRCh37: Chr6:159420652 GRCh38: Chr6:158999620	RSPH3		Primary ciliary dyskinesia 32	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 105790896.	NM_031924.8(RSPH3):c.531A>C (p.Glu177Asp) GRCh37: Chr6:159403682 GRCh38: Chr6:158982650	RSPH3	E177D, E223D	Primary ciliary dyskinesia 32	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 105669197.	NM_031924.8(RSPH3):c.781C>T (p.Arg261Cys) GRCh37: Chr6:159401884 GRCh38: Chr6:158980852	RSPH3	R261C, R307C	Primary ciliary dyskinesia 32	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 104443098.	NM_031924.8(RSPH3):c.955C>T (p.Arg319Cys) GRCh37: Chr6:159398872 GRCh38: Chr6:158977840	RSPH3	R319C, R365C	Primary ciliary dyskinesia 32, Inborn genetic diseases	Uncertain significance (Mar 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103147299.	NM_031924.8(RSPH3):c.-143del GRCh37: Chr6:159420725 GRCh38: Chr6:158999693	RSPH3	P95fs	Primary ciliary dyskinesia 32	Pathogenic (Oct 30, 2018)	criteria provided, single submitter
Select item 1009986100.	NM_031924.8(RSPH3):c.1048_1049insGTC (p.Ala350delinsGlyPro) GRCh37: Chr6:159398778-159398779 GRCh38: Chr6:158977746-158977747	RSPH3		Primary ciliary dyskinesia 32	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter

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