ClinVar for MedGen (Select 462486) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068297	NM_181426.2(CCDC39):c.1452del (p.Ile484fs)	CCDC39 (I484fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 14	GLikely pathogenic
Select item 3068014	NM_181426.2(CCDC39):c.676C>T (p.Gln226Ter)	CCDC39 (Q226*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 14	GLikely pathogenic
Select item 2585129	NM_181426.2(CCDC39):c.1362G>A (p.Gln454=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 2585082	NM_181426.2(CCDC39):c.516+1G>A	CCDC39	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia +1 more	GLikely pathogenic
Select item 2506514	NM_181426.2(CCDC39):c.983T>C (p.Leu328Pro)	CCDC39 (L328P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14	GPathogenic
Select item 2444423	NM_181426.2(CCDC39):c.90+1G>C	CCDC39	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 14	GLikely pathogenic
Select item 2439796	NM_181426.2(CCDC39):c.749G>A (p.Arg250Lys)	CCDC39 (R250K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 1916247	NM_181426.2(CCDC39):c.210+2T>C	CCDC39	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 14 +1 more	GPathogenic
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 1521515	NM_181426.2(CCDC39):c.531A>G (p.Gln177=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1322040	NM_181426.2(CCDC39):c.1456dup (p.Glu486fs)	CCDC39 (E486fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 14	GPathogenic
Select item 1322039	NM_181426.2(CCDC39):c.2061dup (p.Ala688fs)	CCDC39 (A688fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 14	GPathogenic
Select item 1322038	NM_181426.2(CCDC39):c.1999-2A>T	CCDC39	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1070026	NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs)	CCDC39 (E655fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1068490	NM_181426.2(CCDC39):c.2335C>T (p.Gln779Ter)	CCDC39, TTC14 (Q779*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1033233	NM_181426.2(CCDC39):c.899A>G (p.His300Arg)	CCDC39 (H300R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 1026730	NM_181426.2(CCDC39):c.1969G>A (p.Glu657Lys)	CCDC39 (E657K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +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 995571	NM_181426.2(CCDC39):c.782T>A (p.Leu261Ter)	CCDC39 (L261*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 14	GLikely pathogenic
Select item 978709	NM_181426.2(CCDC39):c.1167G>A (p.Lys389=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14	GLikely pathogenic
Select item 955889	NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs)	CCDC39, TTC14 (K836fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 903062	NM_181426.2(CCDC39):c.425C>T (p.Ala142Val)	CCDC39 (A142V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 903061	NM_181426.2(CCDC39):c.516+11A>T	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 902947	NM_181426.2(CCDC39):c.*134A>T	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 902946	NM_181426.2(CCDC39):c.*229G>A	TTC14, CCDC39	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 902179	NM_181426.2(CCDC39):c.551A>C (p.Glu184Ala)	CCDC39 (E184A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 902130	NM_181426.2(CCDC39):c.2101G>A (p.Val701Met)	CCDC39 (V701M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 902129	NM_181426.2(CCDC39):c.2152C>T (p.Pro718Ser)	CCDC39 (P718S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 902128	NM_181426.2(CCDC39):c.2266-5T>C	CCDC39, TTC14	Single nucleotide variant (intron variant)	CCDC39-related condition +2 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 +1 more	GUncertain significance
Select item 902067	NM_181426.2(CCDC39):c.*313C>T	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 902066	NM_181426.2(CCDC39):c.*405A>G	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 902065	NM_181426.2(CCDC39):c.*533A>C	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 901495	NM_181426.2(CCDC39):c.*538A>C	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 901494	NM_181426.2(CCDC39):c.*572G>T	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 900519	NM_181426.2(CCDC39):c.1137T>C (p.Asp379=)	CCDC39	Single nucleotide variant (synonymous variant)	CCDC39-related condition +2 more	GConflicting classifications of pathogenicity
Select item 900464	NM_181426.2(CCDC39):c.2357G>T (p.Ser786Ile)	CCDC39, TTC14 (S786I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 900463	NM_181426.2(CCDC39):c.2407-8A>T	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 900462	NM_181426.2(CCDC39):c.2526A>G (p.Leu842=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
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 +1 more	GConflicting classifications of pathogenicity
Select item 900342	NM_181426.2(CCDC39):c.*698A>G	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 900341	NM_181426.2(CCDC39):c.*734T>C	TTC14, CCDC39	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 900340	NM_181426.2(CCDC39):c.*800G>A	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GBenign
Select item 900339	NM_181426.2(CCDC39):c.*842A>G	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 899396	NM_181426.2(CCDC39):c.1285T>C (p.Ser429Pro)	CCDC39 (S429P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 869385	NM_181426.2(CCDC39):c.1035-227_1167+308del	CCDC39	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia 14	GPathogenic
Select item 869378	NM_181426.2(CCDC39):c.1244_1261delinsGG (p.Lys415fs)	CCDC39 (K415fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 14	GPathogenic
Select item 853208	NM_181426.2(CCDC39):c.1528-3C>T	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	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 835336	NM_181426.2(CCDC39):c.2T>C (p.Met1Thr)	CCDC39 (M1T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +1 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 +1 more	GConflicting classifications of pathogenicity
Select item 695450	NM_181426.2(CCDC39):c.885G>A (p.Thr295=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +2 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 663046	NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys)	TTC14, CCDC39 (R829C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 661055	NM_181426.2(CCDC39):c.1045del (p.Thr349fs)	CCDC39 (T349fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 14 +1 more	GPathogenic
Select item 631917	NM_181426.2(CCDC39):c.2358_2359del (p.Ser786fs)	CCDC39, TTC14 (S786fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 569732	NM_181426.2(CCDC39):c.137G>A (p.Arg46His)	CCDC39 (R46H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 525559	NM_181426.2(CCDC39):c.272A>G (p.Gln91Arg)	CCDC39 (Q91R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 525460	NM_181426.2(CCDC39):c.2409T>C (p.Cys803=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	CCDC39-related condition +2 more	GConflicting classifications of pathogenicity
Select item 525369	NM_181426.2(CCDC39):c.64GAG[1] (p.Glu23del)	CCDC39 (E23del)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 525300	NM_181426.2(CCDC39):c.610_613del	CCDC39	Deletion (splice acceptor variant)	Primary ciliary dyskinesia 14 +1 more	GPathogenic/Likely pathogenic
Select item 525295	NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp)	CCDC39 (R103W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 455025	NM_181426.2(CCDC39):c.547T>C (p.Leu183=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 455022	NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys)	CCDC39, TTC14 (T872K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +3 more	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 455019	NM_181426.2(CCDC39):c.2497_2498del (p.Gln833fs)	CCDC39, TTC14 (Q833fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GPathogenic
Select item 455014	NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)	CCDC39 (R599*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
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 419341	NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter)	CCDC39 (Y742*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 410380	NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys)	CCDC39 (R629C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 344283	NM_181426.2(CCDC39):c.-80T>C	CCDC39	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344282	NM_181426.2(CCDC39):c.42G>A (p.Gly14=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 344281	NM_181426.2(CCDC39):c.68A>C (p.Glu23Ala)	CCDC39 (E23A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 344280	NM_181426.2(CCDC39):c.210+4C>T	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 344279	NM_181426.2(CCDC39):c.396G>A (p.Leu132=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 344278	NM_181426.2(CCDC39):c.640C>T (p.Arg214Cys)	CCDC39 (R214C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 344276	NM_181426.2(CCDC39):c.821G>A (p.Gly274Glu)	CCDC39 (G274E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 344275	NM_181426.2(CCDC39):c.863G>A (p.Arg288His)	CCDC39 (R288H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 344274	NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly)	CCDC39 (R294G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +3 more	GConflicting classifications of pathogenicity
Select item 344273	NM_181426.2(CCDC39):c.1034+11A>G	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 344272	NM_181426.2(CCDC39):c.1102A>G (p.Met368Val)	CCDC39 (M368V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 344271	NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys)	CCDC39 (G400C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 344270	NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg)	CCDC39 (S453R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 344269	NM_181426.2(CCDC39):c.1362+13T>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 344268	NM_181426.2(CCDC39):c.1363-13del	CCDC39	Deletion (intron variant)	Primary ciliary dyskinesia 14 +1 more	GBenign/Likely benign
Select item 344266	NM_181426.2(CCDC39):c.1728C>T (p.His576=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
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 344264	NM_181426.2(CCDC39):c.1833G>A (p.Ala611=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 344263	NM_181426.2(CCDC39):c.1960G>A (p.Gly654Arg)	CCDC39 (G654R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 344262	NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
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 +1 more	GUncertain significance
Select item 344260	NM_181426.2(CCDC39):c.2715A>G (p.Lys905=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 344259	NM_181426.2(CCDC39):c.2800G>A (p.Val934Ile)	CCDC39, TTC14 (V934I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344258	NM_181426.2(CCDC39):c.*133A>T	TTC14, CCDC39	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GBenign
Select item 344257	NM_181426.2(CCDC39):c.*147G>A	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344256	NM_181426.2(CCDC39):c.*157T>C	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344255	NM_181426.2(CCDC39):c.*161T>A	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344254	NM_181426.2(CCDC39):c.*325C>A	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344253	NM_181426.2(CCDC39):c.*325C>T	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GLikely benign
Select item 344252	NM_181426.2(CCDC39):c.*373G>A	TTC14, CCDC39	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance

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