ClinVar for MedGen (Select 462487) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25051701.	NM_017950.4(CCDC40):c.2236-213_2832+2269del GRCh37: Chr17:78059584-78065947 GRCh38: Chr17:80085785-80092148	CCDC40		Primary ciliary dyskinesia 15	Pathogenic (Jul 3, 2021)	criteria provided, single submitter
Select item 25051692.	NM_017950.4(CCDC40):c.2619+45G>A GRCh37: Chr17:78061620 GRCh38: Chr17:80087821	CCDC40		Primary ciliary dyskinesia 15	Pathogenic (Jul 19, 2021)	criteria provided, single submitter
Select item 24398003.	NM_017950.4(CCDC40):c.3103G>A (p.Glu1035Lys) GRCh37: Chr17:78071125 GRCh38: Chr17:80097326	CCDC40	E1035K	Primary ciliary dyskinesia 15	Uncertain significance (May 5, 2020)	criteria provided, single submitter
Select item 24397994.	NM_017950.4(CCDC40):c.466G>A (p.Val156Ile) GRCh37: Chr17:78013983 GRCh38: Chr17:80040184	CCDC40	V156I	Primary ciliary dyskinesia 15	Uncertain significance (Jun 13, 2019)	criteria provided, single submitter
Select item 24397975.	NM_017950.4(CCDC40):c.595G>C (p.Gly199Arg) GRCh37: Chr17:78021120 GRCh38: Chr17:80047321	CCDC40	G199R	Primary ciliary dyskinesia 15	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 24388986.	NM_017950.4(CCDC40):c.833dup (p.Val279fs) GRCh37: Chr17:78022537-78022538 GRCh38: Chr17:80048738-80048739	CCDC40	V279fs	Primary ciliary dyskinesia 15	Likely pathogenic (Nov 4, 2022)	criteria provided, single submitter
Select item 24315107.	NM_017950.4(CCDC40):c.1266_1281dup (p.Glu428fs) GRCh37: Chr17:78032398-78032399 GRCh38: Chr17:80058599-80058600	CCDC40	E428fs	Primary ciliary dyskinesia 15	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 17958768.	NM_017950.4(CCDC40):c.2778C>T (p.Ser926=) GRCh37: Chr17:78063629 GRCh38: Chr17:80089830	CCDC40		Primary ciliary dyskinesia 15, Ciliary dyskinesia	Conflicting interpretations of pathogenicity (Sep 5, 2022)	criteria provided, conflicting interpretations
Select item 17043809.	NM_017950.4(CCDC40):c.798del (p.Ser267fs) GRCh37: Chr17:78022500 GRCh38: Chr17:80048701	CCDC40	S267fs	Primary ciliary dyskinesia 15	Pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 170436810.	NM_017950.4(CCDC40):c.2753_2754del (p.Lys918fs) GRCh37: Chr17:78063602-78063603 GRCh38: Chr17:80089803-80089804	CCDC40	K918fs	Primary ciliary dyskinesia 15	Likely pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 169888611.	NM_017950.4(CCDC40):c.3092_3093dup (p.Glu1032Ter) GRCh37: Chr17:78071113-78071114 GRCh38: Chr17:80097314-80097315	CCDC40	E1032*	Primary ciliary dyskinesia 15	Likely pathogenic (Dec 17, 2019)	criteria provided, single submitter
Select item 169879512.	NM_017950.4(CCDC40):c.2257dup (p.Glu753fs) GRCh37: Chr17:78059821-78059822 GRCh38: Chr17:80086022-80086023	CCDC40	E753fs	Primary ciliary dyskinesia 15	Likely pathogenic (Dec 17, 2019)	criteria provided, single submitter
Select item 152604813.	NM_017950.4(CCDC40):c.3G>A (p.Met1Ile) GRCh37: Chr17:78010464 GRCh38: Chr17:80036665	CCDC40	M1I	Primary ciliary dyskinesia 15	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 148708514.	NM_017950.4(CCDC40):c.962G>A (p.Arg321Gln) GRCh37: Chr17:78023885 GRCh38: Chr17:80050086	CCDC40	R321Q	Ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia 15	Uncertain significance (Apr 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141723415.	NM_017950.4(CCDC40):c.552G>A (p.Leu184=) GRCh37: Chr17:78014069 GRCh38: Chr17:80040270	CCDC40		Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139700016.	NM_017950.4(CCDC40):c.2423T>C (p.Met808Thr) GRCh37: Chr17:78059989 GRCh38: Chr17:80086190	CCDC40	M808T	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 137149617.	NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter) GRCh37: Chr17:78071197 GRCh38: Chr17:80097398	CCDC40	R1059*	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Pathogenic/Likely pathogenic (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130661818.	NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met) GRCh37: Chr17:78039363 GRCh38: Chr17:80065564	CCDC40	K507M	not provided, Ciliary dyskinesia, Primary ciliary dyskinesia 15	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 119269919.	NM_017950.4(CCDC40):c.2450-53G>A GRCh37: Chr17:78061353 GRCh38: Chr17:80087554	CCDC40		Primary ciliary dyskinesia 15, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119265720.	NM_017950.4(CCDC40):c.2450-89A>C GRCh37: Chr17:78061317 GRCh38: Chr17:80087518	CCDC40		Primary ciliary dyskinesia 15, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106123521.	NM_017950.4(CCDC40):c.1228G>A (p.Asp410Asn) GRCh37: Chr17:78032361 GRCh38: Chr17:80058562	CCDC40	D410N	Primary ciliary dyskinesia 15, Ciliary dyskinesia	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104953722.	NM_017950.4(CCDC40):c.1562+2018C>T GRCh37: Chr17:78041423 GRCh38: Chr17:80067624	CCDC40	A561V	Primary ciliary dyskinesia 15	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 104876923.	NM_017950.4(CCDC40):c.511C>A (p.Gln171Lys) GRCh37: Chr17:78014028 GRCh38: Chr17:80040229	CCDC40	Q171K	Primary ciliary dyskinesia 15	Uncertain significance (Mar 29, 2021)	criteria provided, single submitter
Select item 103201224.	NM_017950.4(CCDC40):c.3184C>G (p.Leu1062Val) GRCh37: Chr17:78073329 GRCh38: Chr17:80099530	CCDC40	L1062V	Ciliary dyskinesia, Primary ciliary dyskinesia 15, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jun 28, 2023)	criteria provided, conflicting interpretations
Select item 101550625.	NM_017950.4(CCDC40):c.1456G>A (p.Asp486Asn) GRCh37: Chr17:78039299 GRCh38: Chr17:80065500	CCDC40	D486N	Primary ciliary dyskinesia 15, Ciliary dyskinesia	Uncertain significance (Apr 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99303626.	NM_017950.4(CCDC40):c.2832+360C>T GRCh37: Chr17:78064043 GRCh38: Chr17:80090244	CCDC40	R980*	Primary ciliary dyskinesia 15	Likely pathogenic (Oct 11, 2020)	no assertion criteria provided
Select item 93182827.	NM_017950.4(CCDC40):c.2832+395dup GRCh37: Chr17:78064076-78064077 GRCh38: Chr17:80090277-80090278	CCDC40	Q992fs	Primary ciliary dyskinesia 15	Likely pathogenic (Feb 19, 2020)	criteria provided, single submitter
Select item 93170828.	NM_017950.4(CCDC40):c.2832+297G>T GRCh37: Chr17:78063980 GRCh38: Chr17:80090181	CCDC40	E959*	Primary ciliary dyskinesia 15	Likely pathogenic (Oct 2, 2019)	criteria provided, single submitter
Select item 93139229.	NM_017950.4(CCDC40):c.298del (p.Thr100fs) GRCh37: Chr17:78013813 GRCh38: Chr17:80040014	CCDC40	T100fs	Primary ciliary dyskinesia 15	Likely pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 93139130.	NM_017950.4(CCDC40):c.1807G>A (p.Glu603Lys) GRCh37: Chr17:78055675 GRCh38: Chr17:80081876	CCDC40	E603K	Primary ciliary dyskinesia 15	Uncertain significance (Nov 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93114131.	NM_017950.4(CCDC40):c.2832+306G>T GRCh37: Chr17:78063989 GRCh38: Chr17:80090190	CCDC40	G962W	Primary ciliary dyskinesia 15	Uncertain significance (Jul 1, 2019)	criteria provided, single submitter
Select item 89225532.	NM_017950.4(CCDC40):c.*201G>A GRCh37: Chr17:78073775 GRCh38: Chr17:80099976	CCDC40		Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89219633.	NM_017950.4(CCDC40):c.2936G>A (p.Arg979His) GRCh37: Chr17:78069165 GRCh38: Chr17:80095366	CCDC40	R979H	Primary ciliary dyskinesia 15	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89219534.	NM_017950.4(CCDC40):c.2841C>T (p.Leu947=) GRCh37: Chr17:78069070 GRCh38: Chr17:80095271	CCDC40		Primary ciliary dyskinesia 15, Ciliary dyskinesia	Conflicting interpretations of pathogenicity (Aug 24, 2022)	criteria provided, conflicting interpretations
Select item 89213535.	NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln) GRCh37: Chr17:78055766 GRCh38: Chr17:80081967	CCDC40	R633Q	Usher syndrome, Primary ciliary dyskinesia 15	Conflicting interpretations of pathogenicity (Dec 31, 2022)	criteria provided, conflicting interpretations
Select item 89209136.	NM_017950.4(CCDC40):c.1054C>T (p.His352Tyr) GRCh37: Chr17:78023977 GRCh38: Chr17:80050178	CCDC40	H352Y	Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89209037.	NM_017950.4(CCDC40):c.994T>C (p.Tyr332His) GRCh37: Chr17:78023917 GRCh38: Chr17:80050118	CCDC40	Y332H	Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89205038.	NM_017950.4(CCDC40):c.28C>G (p.Arg10Gly) GRCh37: Chr17:78010489 GRCh38: Chr17:80036690	CCDC40	R10G	Primary ciliary dyskinesia 15	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89111539.	NM_000152.5(GAA):c.-75C>G GRCh37: Chr17:78075647 GRCh38: Chr17:80101848	CCDC40, GAA		not provided, Primary ciliary dyskinesia 15, Glycogen storage disease, type II	Likely benign (Mar 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89096140.	NM_017950.4(CCDC40):c.2711+11G>T GRCh37: Chr17:78061912 GRCh38: Chr17:80088113	CCDC40		Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89096041.	NM_017950.4(CCDC40):c.2609G>A (p.Arg870His) GRCh37: Chr17:78061565 GRCh38: Chr17:80087766	CCDC40	R870H	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89055042.	NM_000152.5(GAA):c.-325C>T GRCh37: Chr17:78075397 GRCh38: Chr17:80101598	CCDC40, GAA, LOC130061897		Primary ciliary dyskinesia 15, Glycogen storage disease, type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89054943.	NM_017950.4(CCDC40):c.*706T>C GRCh37: Chr17:78074280 GRCh38: Chr17:80100481	CCDC40		Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89054844.	NM_017950.4(CCDC40):c.*681T>C GRCh37: Chr17:78074255 GRCh38: Chr17:80100456	CCDC40		Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89046945.	NM_017950.4(CCDC40):c.3263G>A (p.Arg1088His) GRCh37: Chr17:78073408 GRCh38: Chr17:80099609	CCDC40	R1088H	Primary ciliary dyskinesia 15	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89046846.	NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His) GRCh37: Chr17:78073357 GRCh38: Chr17:80099558	CCDC40, GAA	R1071H	Inborn genetic diseases, Primary ciliary dyskinesia 15, Glycogen storage disease, type II	Uncertain significance (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89046747.	NM_017950.4(CCDC40):c.3196G>A (p.Val1066Met) GRCh37: Chr17:78073341 GRCh38: Chr17:80099542	CCDC40	V1066M	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (May 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89040048.	NM_017950.4(CCDC40):c.2497A>G (p.Met833Val) GRCh37: Chr17:78061453 GRCh38: Chr17:80087654	CCDC40	M833V	Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89028849.	NM_017950.4(CCDC40):c.614G>A (p.Arg205Gln) GRCh37: Chr17:78021139 GRCh38: Chr17:80047340	CCDC40	R205Q	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89028750.	NM_017950.4(CCDC40):c.608G>A (p.Arg203His) GRCh37: Chr17:78021133 GRCh38: Chr17:80047334	CCDC40	R203H	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89028651.	NM_017950.4(CCDC40):c.552+5G>A GRCh37: Chr17:78014074 GRCh38: Chr17:80040275	CCDC40		Primary ciliary dyskinesia 15	Uncertain significance (Jan 22, 2018)	criteria provided, single submitter
Select item 88885152.	NM_017950.4(CCDC40):c.*517G>C GRCh37: Chr17:78074091 GRCh38: Chr17:80100292	CCDC40		Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88876253.	NM_017950.4(CCDC40):c.3021+13G>A GRCh37: Chr17:78069263 GRCh38: Chr17:80095464	CCDC40		Primary ciliary dyskinesia 15, Ciliary dyskinesia	Conflicting interpretations of pathogenicity (Jul 14, 2022)	criteria provided, conflicting interpretations
Select item 88876154.	NM_017950.4(CCDC40):c.2967C>T (p.Thr989=) GRCh37: Chr17:78069196 GRCh38: Chr17:80095397	CCDC40		Primary ciliary dyskinesia 15, Ciliary dyskinesia	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 88869855.	NM_017950.4(CCDC40):c.2070A>C (p.Ala690=) GRCh37: Chr17:78058622 GRCh38: Chr17:80084823	CCDC40		Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88869756.	NM_017950.4(CCDC40):c.2038G>C (p.Asp680His) GRCh37: Chr17:78058590 GRCh38: Chr17:80084791	CCDC40	D680H	Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88863557.	NM_017950.4(CCDC40):c.1150C>T (p.Arg384Cys) GRCh37: Chr17:78024073 GRCh38: Chr17:80050274	CCDC40	R384C	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88859058.	NM_017950.4(CCDC40):c.290A>G (p.Tyr97Cys) GRCh37: Chr17:78013807 GRCh38: Chr17:80040008	CCDC40	Y97C	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85226959.	NM_017950.4(CCDC40):c.1109G>A (p.Arg370His) GRCh37: Chr17:78024032 GRCh38: Chr17:80050233	CCDC40	R370H	Primary ciliary dyskinesia 15, Ciliary dyskinesia	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84293360.	NM_017950.4(CCDC40):c.763G>C (p.Glu255Gln) GRCh37: Chr17:78022468 GRCh38: Chr17:80048669	CCDC40	E255Q	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83701461.	NM_017950.4(CCDC40):c.760G>A (p.Glu254Lys) GRCh37: Chr17:78022465 GRCh38: Chr17:80048666	CCDC40	E254K	Inborn genetic diseases, Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80346862.	NM_017950.4(CCDC40):c.2832+332_2832+395del GRCh37: Chr17:78064001-78064064 GRCh38: Chr17:80090202-80090265	CCDC40	K970fs	not provided, Primary ciliary dyskinesia 15	Benign/Likely benign (May 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69908663.	NM_017950.4(CCDC40):c.1201C>G (p.Leu401Val) GRCh37: Chr17:78032334 GRCh38: Chr17:80058535	CCDC40	L401V	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 69724864.	NM_017950.4(CCDC40):c.3354C>T (p.Tyr1118=) GRCh37: Chr17:78073499 GRCh38: Chr17:80099700	CCDC40		Primary ciliary dyskinesia 15, Ciliary dyskinesia	Likely benign (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69638665.	NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=) GRCh37: Chr17:78071136 GRCh38: Chr17:80097337	CCDC40		Ciliary dyskinesia, Primary ciliary dyskinesia 15	Likely benign (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69633966.	NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp) GRCh37: Chr17:78058781 GRCh38: Chr17:80084982	CCDC40	E743D	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 66190367.	NM_017950.4(CCDC40):c.3004dup (p.Ile1002fs) GRCh37: Chr17:78069229-78069230 GRCh38: Chr17:80095430-80095431	CCDC40	I1002fs	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Pathogenic (Nov 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 65952268.	NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp) GRCh37: Chr17:78032753 GRCh38: Chr17:80058954	CCDC40	R472W	Primary ciliary dyskinesia 15, Ciliary dyskinesia	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65838169.	NM_017950.4(CCDC40):c.676+2_676+3dup GRCh37: Chr17:78021201-78021202 GRCh38: Chr17:80047402-80047403	CCDC40		Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Feb 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65692370.	NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn) GRCh37: Chr17:78055503 GRCh38: Chr17:80081704	CCDC40	T574N	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65564771.	NM_017950.4(CCDC40):c.1530C>G (p.Asp510Glu) GRCh37: Chr17:78039373 GRCh38: Chr17:80065574	CCDC40	D510E	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65198172.	NM_017950.4(CCDC40):c.2999G>A (p.Arg1000Gln) GRCh37: Chr17:78069228 GRCh38: Chr17:80095429	CCDC40	R1000Q	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Jan 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64979573.	NM_017950.4(CCDC40):c.2584C>T (p.Arg862Trp) GRCh37: Chr17:78061540 GRCh38: Chr17:80087741	CCDC40	R862W	Primary ciliary dyskinesia 15, Ciliary dyskinesia	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64875074.	NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met) GRCh37: Chr17:78055751 GRCh38: Chr17:80081952	CCDC40	T628M	not provided, Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63229175.	NM_017950.4(CCDC40):c.3284dup (p.Glu1096fs) GRCh37: Chr17:78073428-78073429 GRCh38: Chr17:80099629-80099630	CCDC40	E1096fs	Primary ciliary dyskinesia 15	Uncertain significance (Nov 24, 2018)	criteria provided, single submitter
Select item 58332176.	NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn) GRCh37: Chr17:78022402 GRCh38: Chr17:80048603	CCDC40	D233N	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57426877.	NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter) GRCh37: Chr17:78032445 GRCh38: Chr17:80058646	CCDC40	K438*	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Conflicting interpretations of pathogenicity (Aug 28, 2021)	criteria provided, conflicting interpretations
Select item 57325778.	NM_017950.4(CCDC40):c.3129del (p.Phe1044fs) GRCh37: Chr17:78071151 GRCh38: Chr17:80097352	CCDC40	F1044fs	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 57220879.	NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter) GRCh37: Chr17:78013941 GRCh38: Chr17:80040142	CCDC40	Q142*	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Pathogenic/Likely pathogenic (Apr 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56696880.	NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr) GRCh37: Chr17:78024028 GRCh38: Chr17:80050229	CCDC40	A369T	Primary ciliary dyskinesia 15, Ciliary dyskinesia	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52557181.	NM_017950.4(CCDC40):c.1248C>T (p.Arg416=) GRCh37: Chr17:78032381 GRCh38: Chr17:80058582	CCDC40		Primary ciliary dyskinesia 15, Ciliary dyskinesia	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 52543982.	NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser) GRCh37: Chr17:78039322 GRCh38: Chr17:80065523	CCDC40	R493S	Ciliary dyskinesia, Primary ciliary dyskinesia 15, CCDC40-related condition	Conflicting interpretations of pathogenicity (Jun 8, 2023)	criteria provided, conflicting interpretations
Select item 52541183.	NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln) GRCh37: Chr17:78071198 GRCh38: Chr17:80097399	CCDC40	R1059Q	Ciliary dyskinesia, Primary ciliary dyskinesia 15, CCDC40-related condition	Uncertain significance (Jun 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45488784.	NM_017950.4(CCDC40):c.2996G>A (p.Arg999His) GRCh37: Chr17:78069225 GRCh38: Chr17:80095426	CCDC40	R999H	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45487785.	NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser) GRCh37: Chr17:78013659 GRCh38: Chr17:80039860	CCDC40	G48S	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 45487686.	NM_017950.4(CCDC40):c.1275C>T (p.Ala425=) GRCh37: Chr17:78032408 GRCh38: Chr17:80058609	CCDC40		Ciliary dyskinesia, Primary ciliary dyskinesia 15	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 41464187.	NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr) GRCh37: Chr17:78032711 GRCh38: Chr17:80058912	CCDC40	A458T	Ciliary dyskinesia, Primary ciliary dyskinesia 15	Benign/Likely benign (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40777688.	NM_017950.4(CCDC40):c.1860C>T (p.Gly620=) GRCh37: Chr17:78055728 GRCh38: Chr17:80081929	CCDC40		Primary ciliary dyskinesia 15, Ciliary dyskinesia	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 40777389.	NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile) GRCh37: Chr17:78032320 GRCh38: Chr17:80058521	CCDC40	N396I	not provided, Ciliary dyskinesia, Primary ciliary dyskinesia 15	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 40777090.	NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter) GRCh37: Chr17:78032409 GRCh38: Chr17:80058610	CCDC40	E426*	Primary ciliary dyskinesia 15, Ciliary dyskinesia	Pathogenic (Feb 18, 2020)	criteria provided, multiple submitters, no conflicts
Select item 40776991.	NM_017950.4(CCDC40):c.2712-1G>T GRCh37: Chr17:78063562 GRCh38: Chr17:80089763	CCDC40		Ciliary dyskinesia, Primary ciliary dyskinesia 15, not provided	Pathogenic/Likely pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32576692.	NM_017950.4(CCDC40):c.*663C>T GRCh37: Chr17:78074237 GRCh38: Chr17:80100438	CCDC40		Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32576593.	NM_017950.4(CCDC40):c.*654A>C GRCh37: Chr17:78074228 GRCh38: Chr17:80100429	CCDC40, GAA		Ciliary dyskinesia, Primary ciliary dyskinesia 15, Glycogen storage disease, type II	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32576494.	NM_017950.4(CCDC40):c.*633C>G GRCh37: Chr17:78074207 GRCh38: Chr17:80100408	CCDC40		Primary ciliary dyskinesia 15	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32576295.	NM_017950.4(CCDC40):c.*415G>A GRCh37: Chr17:78073989 GRCh38: Chr17:80100190	CCDC40		Primary ciliary dyskinesia 15	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32576196.	NM_017950.4(CCDC40):c.*383G>A GRCh37: Chr17:78073957 GRCh38: Chr17:80100158	CCDC40		Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32576097.	NM_017950.4(CCDC40):c.*347C>T GRCh37: Chr17:78073921 GRCh38: Chr17:80100122	CCDC40		Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32575998.	NM_017950.4(CCDC40):c.*342G>A GRCh37: Chr17:78073916 GRCh38: Chr17:80100117	CCDC40		Primary ciliary dyskinesia 15	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32575899.	NM_017950.4(CCDC40):c.*265C>T GRCh37: Chr17:78073839 GRCh38: Chr17:80100040	CCDC40, GAA		not provided, Ciliary dyskinesia, Primary ciliary dyskinesia 15, Glycogen storage disease, type II	Benign/Likely benign (Dec 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 325757100.	NM_017950.4(CCDC40):c.*220C>T GRCh37: Chr17:78073794 GRCh38: Chr17:80099995	CCDC40		Ciliary dyskinesia, Primary ciliary dyskinesia 15	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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