ClinVar for MedGen (Select 462486) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25851291.	NM_181426.2(CCDC39):c.1362G>A (p.Gln454=) GRCh37: Chr3:180365953 GRCh38: Chr3:180648165	CCDC39		Primary ciliary dyskinesia 14	Uncertain significance	criteria provided, single submitter
Select item 25850822.	NM_181426.2(CCDC39):c.516+1G>A GRCh37: Chr3:180378357 GRCh38: Chr3:180660569	CCDC39		Primary ciliary dyskinesia 14	Likely pathogenic	criteria provided, single submitter
Select item 25065143.	NM_181426.2(CCDC39):c.983T>C (p.Leu328Pro) GRCh37: Chr3:180370002 GRCh38: Chr3:180652214	CCDC39	L328P	Primary ciliary dyskinesia 14	Pathogenic (Jun 23, 2023)	no assertion criteria provided
Select item 24444234.	NM_181426.2(CCDC39):c.90+1G>C GRCh37: Chr3:180397078 GRCh38: Chr3:180679290	CCDC39		Primary ciliary dyskinesia 14	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24397965.	NM_181426.2(CCDC39):c.749G>A (p.Arg250Lys) GRCh37: Chr3:180372731 GRCh38: Chr3:180654943	CCDC39	R250K	Primary ciliary dyskinesia 14	Uncertain significance (Nov 23, 2019)	criteria provided, single submitter
Select item 19162476.	NM_181426.2(CCDC39):c.210+2T>C GRCh37: Chr3:180381653 GRCh38: Chr3:180663865	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17029537.	NM_181426.2(CCDC39):c.1665+3G>A GRCh37: Chr3:180361905 GRCh38: Chr3:180644117	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15215158.	NM_181426.2(CCDC39):c.531A>G (p.Gln177=) GRCh37: Chr3:180377543 GRCh38: Chr3:180659755	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 13220409.	NM_181426.2(CCDC39):c.1456dup (p.Glu486fs) GRCh37: Chr3:180364937-180364938 GRCh38: Chr3:180647149-180647150	CCDC39	E486fs	Primary ciliary dyskinesia 14	Pathogenic (Apr 29, 2019)	criteria provided, single submitter
Select item 132203910.	NM_181426.2(CCDC39):c.2061dup (p.Ala688fs) GRCh37: Chr3:180337695-180337696 GRCh38: Chr3:180619907-180619908	CCDC39	A688fs	Primary ciliary dyskinesia 14	Pathogenic (Jul 19, 2020)	criteria provided, single submitter
Select item 132203811.	NM_181426.2(CCDC39):c.1999-2A>T GRCh37: Chr3:180337760 GRCh38: Chr3:180619972	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Pathogenic/Likely pathogenic (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107002612.	NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs) GRCh37: Chr3:180349287-180349291 GRCh38: Chr3:180631499-180631503	CCDC39	E655fs	Primary ciliary dyskinesia 14, Ciliary dyskinesia	Pathogenic/Likely pathogenic (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106849013.	NM_181426.2(CCDC39):c.2335C>T (p.Gln779Ter) GRCh37: Chr3:180334685 GRCh38: Chr3:180616897	CCDC39, TTC14	Q779*	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Pathogenic/Likely pathogenic (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103323314.	NM_181426.2(CCDC39):c.899A>G (p.His300Arg) GRCh37: Chr3:180372581 GRCh38: Chr3:180654793	CCDC39	H300R	Primary ciliary dyskinesia 14	Uncertain significance (Aug 17, 2018)	criteria provided, single submitter
Select item 101231115.	NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs) GRCh37: Chr3:180337714-180337717 GRCh38: Chr3:180619926-180619929	CCDC39	C680fs	Primary ciliary dyskinesia 14, Ciliary dyskinesia	Pathogenic (Sep 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99557116.	NM_181426.2(CCDC39):c.782T>A (p.Leu261Ter) GRCh37: Chr3:180372698 GRCh38: Chr3:180654910	CCDC39	L261*	Primary ciliary dyskinesia 14	Likely pathogenic (Nov 24, 2020)	criteria provided, single submitter
Select item 97870917.	NM_181426.2(CCDC39):c.1167G>A (p.Lys389=) GRCh37: Chr3:180369189 GRCh38: Chr3:180651401	CCDC39		Primary ciliary dyskinesia 14	Likely pathogenic (Jul 7, 2020)	no assertion criteria provided
Select item 95588918.	NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs) GRCh37: Chr3:180334382-180334383 GRCh38: Chr3:180616594-180616595	CCDC39, TTC14	K836fs	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Pathogenic (Jan 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90306219.	NM_181426.2(CCDC39):c.425C>T (p.Ala142Val) GRCh37: Chr3:180378449 GRCh38: Chr3:180660661	CCDC39	A142V	Primary ciliary dyskinesia 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90306120.	NM_181426.2(CCDC39):c.516+11A>T GRCh37: Chr3:180378347 GRCh38: Chr3:180660559	CCDC39		Primary ciliary dyskinesia 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90294721.	NM_181426.2(CCDC39):c.*134A>T GRCh37: Chr3:180332575 GRCh38: Chr3:180614787	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90294622.	NM_181426.2(CCDC39):c.*229G>A GRCh37: Chr3:180332480 GRCh38: Chr3:180614692	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90217923.	NM_181426.2(CCDC39):c.551A>C (p.Glu184Ala) GRCh37: Chr3:180377523 GRCh38: Chr3:180659735	CCDC39	E184A	Primary ciliary dyskinesia 14, Inborn genetic diseases, Ciliary dyskinesia	Uncertain significance (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90213024.	NM_181426.2(CCDC39):c.2101G>A (p.Val701Met) GRCh37: Chr3:180337656 GRCh38: Chr3:180619868	CCDC39	V701M	Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90212925.	NM_181426.2(CCDC39):c.2152C>T (p.Pro718Ser) GRCh37: Chr3:180337605 GRCh38: Chr3:180619817	CCDC39	P718S	Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90212826.	NM_181426.2(CCDC39):c.2266-5T>C GRCh37: Chr3:180334759 GRCh38: Chr3:180616971	CCDC39, TTC14		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Jul 28, 2022)	criteria provided, conflicting interpretations
Select item 90212727.	NM_181426.2(CCDC39):c.2291T>C (p.Ile764Thr) GRCh37: Chr3:180334729 GRCh38: Chr3:180616941	CCDC39, TTC14	I764T	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Uncertain significance (Dec 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90206728.	NM_181426.2(CCDC39):c.*313C>T GRCh37: Chr3:180332396 GRCh38: Chr3:180614608	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90206629.	NM_181426.2(CCDC39):c.*405A>G GRCh37: Chr3:180332304 GRCh38: Chr3:180614516	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90206530.	NM_181426.2(CCDC39):c.*533A>C GRCh37: Chr3:180332176 GRCh38: Chr3:180614388	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90149531.	NM_181426.2(CCDC39):c.*538A>C GRCh37: Chr3:180332171 GRCh38: Chr3:180614383	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90149432.	NM_181426.2(CCDC39):c.*572G>T GRCh37: Chr3:180332137 GRCh38: Chr3:180614349	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90051933.	NM_181426.2(CCDC39):c.1137T>C (p.Asp379=) GRCh37: Chr3:180369219 GRCh38: Chr3:180651431	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 90046434.	NM_181426.2(CCDC39):c.2357G>T (p.Ser786Ile) GRCh37: Chr3:180334663 GRCh38: Chr3:180616875	CCDC39, TTC14	S786I	Primary ciliary dyskinesia 14	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90046335.	NM_181426.2(CCDC39):c.2407-8A>T GRCh37: Chr3:180334491 GRCh38: Chr3:180616703	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90046236.	NM_181426.2(CCDC39):c.2526A>G (p.Leu842=) GRCh37: Chr3:180334364 GRCh38: Chr3:180616576	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90039737.	NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser) GRCh37: Chr3:180334341 GRCh38: Chr3:180616553	CCDC39, TTC14	T850S	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Aug 26, 2022)	criteria provided, conflicting interpretations
Select item 90034238.	NM_181426.2(CCDC39):c.*698A>G GRCh37: Chr3:180332011 GRCh38: Chr3:180614223	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90034139.	NM_181426.2(CCDC39):c.*734T>C GRCh37: Chr3:180331975 GRCh38: Chr3:180614187	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90034040.	NM_181426.2(CCDC39):c.*800G>A GRCh37: Chr3:180331909 GRCh38: Chr3:180614121	CCDC39, TTC14		Primary ciliary dyskinesia 14	Benign (May 9, 2017)	criteria provided, single submitter
Select item 90033941.	NM_181426.2(CCDC39):c.*842A>G GRCh37: Chr3:180331867 GRCh38: Chr3:180614079	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89939642.	NM_181426.2(CCDC39):c.1285T>C (p.Ser429Pro) GRCh37: Chr3:180366030 GRCh38: Chr3:180648242	CCDC39	S429P	Primary ciliary dyskinesia 14	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 86938543.	NM_181426.2(CCDC39):c.1035-227_1167+308del GRCh37: Chr3:180368881-180369548 GRCh38: Chr3:180651093-180651760	CCDC39		Primary ciliary dyskinesia 14	Pathogenic	criteria provided, single submitter
Select item 86937844.	NM_181426.2(CCDC39):c.1244_1261delinsGG (p.Lys415fs) GRCh37: Chr3:180366054-180366071 GRCh38: Chr3:180648266-180648283	CCDC39	K415fs	Primary ciliary dyskinesia 14	Pathogenic	criteria provided, single submitter
Select item 85320845.	NM_181426.2(CCDC39):c.1528-3C>T GRCh37: Chr3:180362048 GRCh38: Chr3:180644260	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 83885946.	NM_181426.2(CCDC39):c.2358_2362del (p.Ser786fs) GRCh37: Chr3:180334658-180334662 GRCh38: Chr3:180616870-180616874	TTC14, CCDC39	S786fs	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Pathogenic/Likely pathogenic (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83533647.	NM_181426.2(CCDC39):c.2T>C (p.Met1Thr) GRCh37: Chr3:180397167 GRCh38: Chr3:180679379	CCDC39	M1T	Primary ciliary dyskinesia 14, Ciliary dyskinesia	Conflicting interpretations of pathogenicity (Sep 2, 2021)	criteria provided, conflicting interpretations
Select item 69761148.	NM_181426.2(CCDC39):c.1176T>C (p.Asp392=) GRCh37: Chr3:180366139 GRCh38: Chr3:180648351	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (May 22, 2023)	criteria provided, conflicting interpretations
Select item 69545049.	NM_181426.2(CCDC39):c.885G>A (p.Thr295=) GRCh37: Chr3:180372595 GRCh38: Chr3:180654807	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Jul 28, 2022)	criteria provided, conflicting interpretations
Select item 66708250.	NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser) GRCh37: Chr3:180349301 GRCh38: Chr3:180631513	CCDC39	P652S	not specified, Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 66304651.	NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys) GRCh37: Chr3:180334405 GRCh38: Chr3:180616617	CCDC39, TTC14	R829C	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Uncertain significance (Oct 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66105552.	NM_181426.2(CCDC39):c.1045del (p.Thr349fs) GRCh37: Chr3:180369311 GRCh38: Chr3:180651523	CCDC39	T349fs	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Pathogenic (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63191753.	NM_181426.2(CCDC39):c.2358_2359del (p.Ser786fs) GRCh37: Chr3:180334661-180334662 GRCh38: Chr3:180616873-180616874	CCDC39, TTC14	S786fs	Primary ciliary dyskinesia 14	Uncertain significance (Oct 25, 2018)	criteria provided, single submitter
Select item 56973254.	NM_181426.2(CCDC39):c.137G>A (p.Arg46His) GRCh37: Chr3:180381728 GRCh38: Chr3:180663940	CCDC39	R46H	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52546055.	NM_181426.2(CCDC39):c.2409T>C (p.Cys803=) GRCh37: Chr3:180334481 GRCh38: Chr3:180616693	CCDC39, TTC14		Primary ciliary dyskinesia 14, Ciliary dyskinesia	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 52536956.	NM_181426.2(CCDC39):c.64GAG[1] (p.Glu23del) GRCh37: Chr3:180397100-180397102 GRCh38: Chr3:180679312-180679314	CCDC39	E23del	Primary ciliary dyskinesia 14, Ciliary dyskinesia	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52530057.	NM_181426.2(CCDC39):c.610_613del GRCh37: Chr3:180377365-180377368 GRCh38: Chr3:180659577-180659580	CCDC39		Primary ciliary dyskinesia 14, Ciliary dyskinesia	Pathogenic/Likely pathogenic (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52529558.	NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp) GRCh37: Chr3:180379699 GRCh38: Chr3:180661911	CCDC39	R103W	Primary ciliary dyskinesia 14, Ciliary dyskinesia	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45502559.	NM_181426.2(CCDC39):c.547T>C (p.Leu183=) GRCh37: Chr3:180377527 GRCh38: Chr3:180659739	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Sep 22, 2022)	criteria provided, conflicting interpretations
Select item 45502260.	NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys) GRCh37: Chr3:180334123 GRCh38: Chr3:180616335	CCDC39, TTC14	T872K	Inborn genetic diseases, not provided, Ciliary dyskinesia, Primary ciliary dyskinesia 14	Uncertain significance (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45502161.	NM_181426.2(CCDC39):c.2558G>A (p.Arg853His) GRCh37: Chr3:180334332 GRCh38: Chr3:180616544	CCDC39, TTC14	R853H	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Jul 3, 2022)	criteria provided, conflicting interpretations
Select item 45501462.	NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) GRCh37: Chr3:180359860 GRCh38: Chr3:180642072	CCDC39	R599*	Ciliary dyskinesia, Primary ciliary dyskinesia 14, not provided, Ellis-van Creveld syndrome	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 45287563.	NM_181426.2(CCDC39):c.1387C>T (p.Arg463Trp) GRCh37: Chr3:180365007 GRCh38: Chr3:180647219	CCDC39	R463W	not provided, Primary ciliary dyskinesia 14, Ciliary dyskinesia	Uncertain significance (Feb 19, 2020)	criteria provided, multiple submitters, no conflicts
Select item 41934164.	NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter) GRCh37: Chr3:180337086 GRCh38: Chr3:180619298	CCDC39	Y742*	not provided, Primary ciliary dyskinesia 14	Pathogenic/Likely pathogenic (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41038065.	NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys) GRCh37: Chr3:180349370 GRCh38: Chr3:180631582	CCDC39	R629C	Primary ciliary dyskinesia 14, not specified, Ciliary dyskinesia	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34428366.	NM_181426.2(CCDC39):c.-80T>C GRCh37: Chr3:180397248 GRCh38: Chr3:180679460	CCDC39		Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34428267.	NM_181426.2(CCDC39):c.42G>A (p.Gly14=) GRCh37: Chr3:180397127 GRCh38: Chr3:180679339	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (May 20, 2022)	criteria provided, conflicting interpretations
Select item 34428168.	NM_181426.2(CCDC39):c.68A>C (p.Glu23Ala) GRCh37: Chr3:180397101 GRCh38: Chr3:180679313	CCDC39	E23A	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Uncertain significance (Jul 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34428069.	NM_181426.2(CCDC39):c.210+4C>T GRCh37: Chr3:180381651 GRCh38: Chr3:180663863	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 34427970.	NM_181426.2(CCDC39):c.396G>A (p.Leu132=) GRCh37: Chr3:180378478 GRCh38: Chr3:180660690	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Oct 22, 2022)	criteria provided, conflicting interpretations
Select item 34427871.	NM_181426.2(CCDC39):c.640C>T (p.Arg214Cys) GRCh37: Chr3:180377338 GRCh38: Chr3:180659550	CCDC39	R214C	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34427672.	NM_181426.2(CCDC39):c.821G>A (p.Gly274Glu) GRCh37: Chr3:180372659 GRCh38: Chr3:180654871	CCDC39	G274E	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34427573.	NM_181426.2(CCDC39):c.863G>A (p.Arg288His) GRCh37: Chr3:180372617 GRCh38: Chr3:180654829	CCDC39	R288H	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Sep 5, 2022)	criteria provided, conflicting interpretations
Select item 34427474.	NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) GRCh37: Chr3:180372600 GRCh38: Chr3:180654812	CCDC39	R294G	not provided, Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 34427375.	NM_181426.2(CCDC39):c.1034+11A>G GRCh37: Chr3:180369940 GRCh38: Chr3:180652152	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 34427276.	NM_181426.2(CCDC39):c.1102A>G (p.Met368Val) GRCh37: Chr3:180369254 GRCh38: Chr3:180651466	CCDC39	M368V	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34427177.	NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) GRCh37: Chr3:180366117 GRCh38: Chr3:180648329	CCDC39	G400C	not specified, Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 34427078.	NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg) GRCh37: Chr3:180365956 GRCh38: Chr3:180648168	CCDC39	S453R	Primary ciliary dyskinesia 14	Uncertain significance (Sep 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34426979.	NM_181426.2(CCDC39):c.1362+13T>C GRCh37: Chr3:180365940 GRCh38: Chr3:180648152	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 34426880.	NM_181426.2(CCDC39):c.1363-13del GRCh37: Chr3:180365044 GRCh38: Chr3:180647256	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Benign/Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34426681.	NM_181426.2(CCDC39):c.1728C>T (p.His576=) GRCh37: Chr3:180359927 GRCh38: Chr3:180642139	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Jul 26, 2022)	criteria provided, conflicting interpretations
Select item 34426582.	NM_181426.2(CCDC39):c.1818T>C (p.His606=) GRCh37: Chr3:180359837 GRCh38: Chr3:180642049	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Sep 10, 2022)	criteria provided, conflicting interpretations
Select item 34426483.	NM_181426.2(CCDC39):c.1833G>A (p.Ala611=) GRCh37: Chr3:180359822 GRCh38: Chr3:180642034	CCDC39		Primary ciliary dyskinesia 14, Ciliary dyskinesia	Conflicting interpretations of pathogenicity (Feb 14, 2022)	criteria provided, conflicting interpretations
Select item 34426384.	NM_181426.2(CCDC39):c.1960G>A (p.Gly654Arg) GRCh37: Chr3:180349295 GRCh38: Chr3:180631507	CCDC39	G654R	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34426285.	NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=) GRCh37: Chr3:180337678 GRCh38: Chr3:180619890	CCDC39		Ciliary dyskinesia, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 34426186.	NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys) GRCh37: Chr3:180334112 GRCh38: Chr3:180616324	CCDC39, TTC14	R876C	Ciliary dyskinesia, Primary ciliary dyskinesia 14	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34426087.	NM_181426.2(CCDC39):c.2715A>G (p.Lys905=) GRCh37: Chr3:180332820 GRCh38: Chr3:180615032	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34425988.	NM_181426.2(CCDC39):c.2800G>A (p.Val934Ile) GRCh37: Chr3:180332735 GRCh38: Chr3:180614947	CCDC39, TTC14	V934I	Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34425889.	NM_181426.2(CCDC39):c.*133A>T GRCh37: Chr3:180332576 GRCh38: Chr3:180614788	CCDC39, TTC14		not provided, Primary ciliary dyskinesia 14	Benign (Mar 25, 2019)	criteria provided, multiple submitters, no conflicts
Select item 34425790.	NM_181426.2(CCDC39):c.*147G>A GRCh37: Chr3:180332562 GRCh38: Chr3:180614774	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34425691.	NM_181426.2(CCDC39):c.*157T>C GRCh37: Chr3:180332552 GRCh38: Chr3:180614764	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34425592.	NM_181426.2(CCDC39):c.*161T>A GRCh37: Chr3:180332548 GRCh38: Chr3:180614760	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34425493.	NM_181426.2(CCDC39):c.*325C>A GRCh37: Chr3:180332384 GRCh38: Chr3:180614596	TTC14, CCDC39		Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34425394.	NM_181426.2(CCDC39):c.*325C>T GRCh37: Chr3:180332384 GRCh38: Chr3:180614596	CCDC39, TTC14		Primary ciliary dyskinesia 14	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34425295.	NM_181426.2(CCDC39):c.*373G>A GRCh37: Chr3:180332336 GRCh38: Chr3:180614548	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34425196.	NM_181426.2(CCDC39):c.*478G>A GRCh37: Chr3:180332231 GRCh38: Chr3:180614443	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34425097.	NM_181426.2(CCDC39):c.*499A>C GRCh37: Chr3:180332210 GRCh38: Chr3:180614422	CCDC39, TTC14		Primary ciliary dyskinesia 14	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34424498.	NM_181426.2(CCDC39):c.*539C>A GRCh37: Chr3:180332170 GRCh38: Chr3:180614382	CCDC39, TTC14		Primary ciliary dyskinesia 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34424399.	NM_181426.2(CCDC39):c.*545C>A GRCh37: Chr3:180332164 GRCh38: Chr3:180614376	CCDC39, TTC14		not provided, Primary ciliary dyskinesia 14	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 344241100.	NM_181426.2(CCDC39):c.*546A>C GRCh37: Chr3:180332163 GRCh38: Chr3:180614375	TTC14, CCDC39		Primary ciliary dyskinesia 14	Benign (Jan 12, 2018)	criteria provided, single submitter

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