"Ambry Genetics"[submitter] AND "CCDC39"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 940185	NM_181426.2(CCDC39):c.2795G>A (p.Ser932Asn)	CCDC39, TTC14 (S932N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1403642	NM_181426.2(CCDC39):c.2762C>T (p.Pro921Leu)	CCDC39, TTC14 (P921L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 649426	NM_181426.2(CCDC39):c.2758A>G (p.Ser920Gly)	CCDC39, TTC14 (S920G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139144	NM_181426.2(CCDC39):c.2744C>G (p.Ser915Cys)	CCDC39, TTC14 (S915C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1025604	NM_181426.2(CCDC39):c.2735C>T (p.Pro912Leu)	TTC14, CCDC39 (P912L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3264200	NM_181426.2(CCDC39):c.2724G>A (p.Glu908=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 194994	NM_181426.2(CCDC39):c.2660dup (p.Ser888fs)	CCDC39, TTC14 (S888fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 3264205	NM_181426.2(CCDC39):c.2651A>G (p.His884Arg)	CCDC39, TTC14 (H884R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1010335	NM_181426.2(CCDC39):c.2642C>T (p.Ser881Phe)	CCDC39, TTC14 (S881F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344261	NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys)	CCDC39, TTC14 (R876C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 455022	NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys)	CCDC39, TTC14 (T872K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3264203	NM_181426.2(CCDC39):c.2564T>G (p.Ile855Ser)	CCDC39, TTC14 (I855S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 455021	NM_181426.2(CCDC39):c.2558G>A (p.Arg853His)	CCDC39, TTC14 (R853H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 228476	NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys)	CCDC39, TTC14 (R853C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2465378	NM_181426.2(CCDC39):c.2555T>A (p.Ile852Asn)	CCDC39, TTC14 (I852N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 900397	NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser)	CCDC39, TTC14 (T850S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 219718	NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala)	CCDC39, TTC14 (T850A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 194907	NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)	CCDC39, TTC14 (I845T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2537699	NM_181426.2(CCDC39):c.2527G>C (p.Val843Leu)	CCDC39, TTC14 (V843L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 663046	NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys)	CCDC39, TTC14 (R829C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 1791725	NM_181426.2(CCDC39):c.2469A>G (p.Glu823=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1791520	NM_181426.2(CCDC39):c.2453A>T (p.Asp818Val)	CCDC39, TTC14 (D818V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 162838	NM_181426.2(CCDC39):c.2432G>A (p.Arg811His)	CCDC39, TTC14 (R811H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 3264204	NM_181426.2(CCDC39):c.2420C>T (p.Thr807Ile)	CCDC39, TTC14 (T807I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1790920	NM_181426.2(CCDC39):c.2414A>C (p.Lys805Thr)	CCDC39, TTC14 (K805T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525460	NM_181426.2(CCDC39):c.2409T>C (p.Cys803=)	TTC14, CCDC39	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 1990587	NM_181426.2(CCDC39):c.2406+5C>T	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 162839	NM_181426.2(CCDC39):c.2397G>A (p.Val799=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 455018	NM_181426.2(CCDC39):c.2387T>C (p.Leu796Ser)	CCDC39, TTC14 (L796S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1790449	NM_181426.2(CCDC39):c.2381C>T (p.Pro794Leu)	CCDC39, TTC14 (P794L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1412392	NM_181426.2(CCDC39):c.2366C>T (p.Thr789Met)	CCDC39, TTC14 (T789M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 838859	NM_181426.2(CCDC39):c.2358_2362del (p.Ser786fs)	CCDC39, TTC14 (S786fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 703377	NM_181426.2(CCDC39):c.2349T>C (p.Phe783=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 701377	NM_181426.2(CCDC39):c.2346A>G (p.Ser782=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3264202	NM_181426.2(CCDC39):c.2345C>T (p.Ser782Leu)	CCDC39, TTC14 (S782L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2739211	NM_181426.2(CCDC39):c.2343T>C (p.Tyr781=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3139143	NM_181426.2(CCDC39):c.2338G>A (p.Ala780Thr)	CCDC39, TTC14 (A780T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 162840	NM_181426.2(CCDC39):c.2301G>A (p.Leu767=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 219954	NM_181426.2(CCDC39):c.2299T>C (p.Leu767=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 902127	NM_181426.2(CCDC39):c.2291T>C (p.Ile764Thr)	CCDC39, TTC14 (I764T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 226484	NM_181426.2(CCDC39):c.2278A>G (p.Thr760Ala)	CCDC39, TTC14 (T760A)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 162841	NM_181426.2(CCDC39):c.2230C>G (p.Gln744Glu)	CCDC39 (Q744E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 65950	NM_181426.2(CCDC39):c.2190del (p.Glu731fs)	CCDC39 (E731fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 3264201	NM_181426.2(CCDC39):c.2159G>T (p.Ser720Ile)	CCDC39 (S720I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3229470	NM_181426.2(CCDC39):c.2159G>A (p.Ser720Asn)	CCDC39 (S720N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139142	NM_181426.2(CCDC39):c.2153C>A (p.Pro718Gln)	CCDC39 (P718Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2339937	NM_181426.2(CCDC39):c.2131C>A (p.Gln711Lys)	CCDC39 (Q711K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1786127	NM_181426.2(CCDC39):c.2112C>T (p.Ser704=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 220134	NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser)	CCDC39 (N686S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1012311	NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs)	CCDC39 (C680fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1322038	NM_181426.2(CCDC39):c.1999-2A>T	CCDC39	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 14 +1 more	GPathogenic/Likely pathogenic
Select item 969025	NM_181426.2(CCDC39):c.1971G>T (p.Glu657Asp)	CCDC39 (E657D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1026730	NM_181426.2(CCDC39):c.1969G>A (p.Glu657Lys)	CCDC39 (E657K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 667082	NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser)	CCDC39 (P652S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +2 more	GConflicting classifications of pathogenicity
Select item 455016	NM_181426.2(CCDC39):c.1935G>T (p.Leu645=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2896475	NM_181426.2(CCDC39):c.1908G>A (p.Glu636=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1782193	NM_181426.2(CCDC39):c.1898_1901del (p.Ser633fs)	CCDC39 (S633fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 262966	NM_181426.2(CCDC39):c.1896A>G (p.Leu632=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +2 more	GConflicting classifications of pathogenicity
Select item 2255008	NM_181426.2(CCDC39):c.1888G>A (p.Glu630Lys)	CCDC39 (E630K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1521379	NM_181426.2(CCDC39):c.1887C>T (p.Arg629=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2145478	NM_181426.2(CCDC39):c.1886G>A (p.Arg629His)	CCDC39 (R629H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1781739	NM_181426.2(CCDC39):c.1874+2T>C	CCDC39	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 228475	NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)	CCDC39 (S625I)	Single nucleotide variant (missense variant)	CCDC39-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 565319	NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs)	CCDC39 (I624fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 242171	NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly)	CCDC39 (E622G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 262964	NM_181426.2(CCDC39):c.1861C>T (p.Arg621Trp)	CCDC39 (R621W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 704324	NM_181426.2(CCDC39):c.1848T>C (p.Tyr616=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 344265	NM_181426.2(CCDC39):c.1818T>C (p.His606=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 1780274	NM_181426.2(CCDC39):c.1797A>C (p.Arg599=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 455014	NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)	CCDC39 (R599*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 14 +3 more	GConflicting classifications of pathogenicity
Select item 242170	NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)	CCDC39 (T594I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 344266	NM_181426.2(CCDC39):c.1728C>T (p.His576=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 3139141	NM_181426.2(CCDC39):c.1706A>G (p.Lys569Arg)	CCDC39 (K569R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1778425	NM_181426.2(CCDC39):c.1704T>G (p.Val568=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1702953	NM_181426.2(CCDC39):c.1665+3G>A	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1776990	NM_181426.2(CCDC39):c.1639C>T (p.Leu547Phe)	CCDC39 (L547F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1776672	NM_181426.2(CCDC39):c.1625_1632del (p.Arg542fs)	CCDC39 (R542fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2289831	NM_181426.2(CCDC39):c.1627T>A (p.Ser543Thr)	CCDC39 (S543T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2451482	NM_181426.2(CCDC39):c.1625G>T (p.Arg542Ile)	CCDC39 (R542I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1776448	NM_181426.2(CCDC39):c.1613T>G (p.Leu538Arg)	CCDC39 (L538R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525394	NM_181426.2(CCDC39):c.1612C>G (p.Leu538Val)	CCDC39 (L538V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 699512	NM_181426.2(CCDC39):c.1611C>T (p.Asn537=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1775183	NM_181426.2(CCDC39):c.1557T>C (p.His519=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 455011	NM_181426.2(CCDC39):c.1555C>A (p.His519Asn)	CCDC39 (H519N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2181785	NM_181426.2(CCDC39):c.1486T>A (p.Ser496Thr)	CCDC39 (S496T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 416129	NM_181426.2(CCDC39):c.1459C>G (p.Leu487Val)	CCDC39 (L487V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 226483	NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)	CCDC39 (Q478R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 1771869	NM_181426.2(CCDC39):c.1404A>G (p.Leu468=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1928296	NM_181426.2(CCDC39):c.1388G>A (p.Arg463Gln)	CCDC39 (R463Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 452875	NM_181426.2(CCDC39):c.1387C>T (p.Arg463Trp)	CCDC39 (R463W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +2 more	GUncertain significance
Select item 242168	NM_181426.2(CCDC39):c.1363-3del	CCDC39	Deletion (intron variant)	Primary ciliary dyskinesia 14 +3 more	GConflicting classifications of pathogenicity
Select item 162842	NM_181426.2(CCDC39):c.1359C>T (p.Ser453=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 162843	NM_181426.2(CCDC39):c.1248A>G (p.Glu416=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 1354747	NM_181426.2(CCDC39):c.1247A>G (p.Glu416Gly)	CCDC39 (E416G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1128823	NM_181426.2(CCDC39):c.1239A>G (p.Thr413=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1757346	NM_181426.2(CCDC39):c.1238C>G (p.Thr413Arg)	CCDC39 (T413R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2449414	NM_181426.2(CCDC39):c.1202T>C (p.Val401Ala)	CCDC39 (V401A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 344271	NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys)	CCDC39 (G400C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 697611	NM_181426.2(CCDC39):c.1176T>C (p.Asp392=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 2562219	NM_181426.2(CCDC39):c.1085A>G (p.Glu362Gly)	CCDC39 (E362G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance

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