CCNO[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 1198050	NM_021147.5(CCNO):c.*223A>G	CCNO	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3252279	NM_021147.5(CCNO):c.*52C>G	CCNO	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2315325	NM_021147.5(CCNO):c.1040C>G (p.Pro347Arg)	CCNO (P347R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1402444	NM_021147.5(CCNO):c.1040C>T (p.Pro347Leu)	CCNO (P347L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2164547	NM_021147.5(CCNO):c.1017C>T (p.Ile339=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1053221	NM_021147.5(CCNO):c.1012C>G (p.Gln338Glu)	CCNO (Q338E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525497	NM_021147.5(CCNO):c.1007C>T (p.Pro336Leu)	CCNO (P336L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 411599	NM_021147.5(CCNO):c.1002G>C (p.Met334Ile)	CCNO (M334I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 696778	NM_021147.5(CCNO):c.999C>T (p.His333=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 859816	NM_021147.5(CCNO):c.997C>T (p.His333Tyr)	CCNO (H333Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1535581	NM_021147.5(CCNO):c.996T>C (p.Thr332=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 454921	NM_021147.5(CCNO):c.989C>T (p.Ser330Phe)	CCNO (S330F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3264594	NM_021147.5(CCNO):c.986C>T (p.Thr329Ile)	CCNO (T329I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139989	NM_021147.5(CCNO):c.982A>G (p.Ser328Gly)	CCNO (S328G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 454920	NM_021147.5(CCNO):c.978A>G (p.Ile326Met)	CCNO (I326M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 812691	NM_021147.5(CCNO):c.964del (p.Leu322fs)	CCNO (L322fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 29	GLikely pathogenic
Select item 139602	NM_021147.5(CCNO):c.961C>T (p.Gln321Ter)	CCNO (Q321*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 416790	NM_021147.5(CCNO):c.957G>A (p.Lys319=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 3139988	NM_021147.5(CCNO):c.950T>C (p.Met317Thr)	CCNO (M317T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 525248	NM_021147.5(CCNO):c.949A>C (p.Met317Leu)	CCNO (M317L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1437949	NM_021147.5(CCNO):c.945C>G (p.Asp315Glu)	CCNO (D315E)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 377161	NM_021147.5(CCNO):c.940G>A (p.Glu314Lys)	CCNO (E314K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 139601	NM_021147.5(CCNO):c.926del (p.Pro309fs)	CCNO (P309fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 29	GPathogenic
Select item 1333420	NM_021147.5(CCNO):c.906del (p.Leu303fs)	CCNO (L303fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 29	GPathogenic
Select item 861050	NM_021147.5(CCNO):c.875_897del (p.Asp292fs)	CCNO (D292fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2695498	NM_021147.5(CCNO):c.895C>T (p.Arg299Trp)	CCNO (R299W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 1096275	NM_021147.5(CCNO):c.887G>A (p.Arg296Gln)	CCNO (R296Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 840736	NM_021147.5(CCNO):c.866C>T (p.Ala289Val)	CCNO (A289V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2070959	NM_021147.5(CCNO):c.851C>A (p.Ala284Glu)	CCNO (A284E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 648781	NM_021147.5(CCNO):c.851C>T (p.Ala284Val)	CCNO (A284V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2745463	NM_021147.5(CCNO):c.846C>T (p.Leu282=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 454919	NM_021147.5(CCNO):c.845T>C (p.Leu282Pro)	CCNO (L282P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 525554	NM_021147.5(CCNO):c.843C>T (p.Ser281=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 736372	NM_021147.5(CCNO):c.837C>A (p.Ser279=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1969594	NM_021147.5(CCNO):c.828C>T (p.Thr276=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 853209	NM_021147.5(CCNO):c.820G>T (p.Ala274Ser)	CCNO (A274S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 950777	NM_021147.5(CCNO):c.808C>A (p.Leu270Met)	CCNO (L270M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1304537	NM_021147.5(CCNO):c.807T>A (p.Ser269Arg)	CCNO (S269R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2181606	NM_021147.5(CCNO):c.800A>G (p.Glu267Gly)	CCNO (E267G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 838130	NM_021147.5(CCNO):c.793del (p.Val265fs)	CCNO (V265fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 416793	NM_021147.5(CCNO):c.790G>C (p.Gly264Arg)	CCNO (G264R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 411598	NM_021147.5(CCNO):c.788G>C (p.Arg263Pro)	CCNO (R263P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 454918	NM_021147.5(CCNO):c.787C>T (p.Arg263Trp)	CCNO (R263W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 952760	NM_021147.5(CCNO):c.785C>T (p.Ala262Val)	CCNO (A262V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 241374	NM_021147.5(CCNO):c.780C>T (p.Ala260=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2339985	NM_021147.5(CCNO):c.778G>T (p.Ala260Ser)	CCNO (A260S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339984	NM_021147.5(CCNO):c.776A>C (p.Gln259Pro)	CCNO (Q259P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 411596	NM_021147.5(CCNO):c.775C>T (p.Gln259Ter)	CCNO (Q259*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2195026	NM_021147.5(CCNO):c.773C>G (p.Ala258Gly)	CCNO (A258G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 839570	NM_021147.5(CCNO):c.746del (p.Gln249fs)	CCNO (Q249fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 857063	NM_021147.5(CCNO):c.724C>T (p.His242Tyr)	CCNO (H242Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 697387	NM_021147.5(CCNO):c.723G>A (p.Thr241=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3065022	NM_021147.5(CCNO):c.715C>G (p.His239Asp)	CCNO (H239D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 29	GUncertain significance
Select item 2582358	NM_021147.5(CCNO):c.714_715delinsTG (p.Glu238_His239delinsAspAsp)	CCNO	Indel (missense variant +1 more)	Primary ciliary dyskinesia 29	GUncertain significance
Select item 411601	NM_021147.5(CCNO):c.688G>A (p.Ala230Thr)	CCNO (A230T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 411595	NM_021147.5(CCNO):c.685G>A (p.Gly229Ser)	CCNO (G229S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 2110288	NM_021147.5(CCNO):c.667_675dup (p.His225_Phe226insLysLeuHis)	CCNO	Duplication (inframe_insertion +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2745654	NM_021147.5(CCNO):c.660G>T (p.Val220=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 411594	NM_021147.5(CCNO):c.638T>C (p.Leu213Pro)	CCNO (L213P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2112858	NM_021147.5(CCNO):c.630G>T (p.Arg210=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2388010	NM_021147.5(CCNO):c.607C>G (p.Leu203Val)	CCNO (L203V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 648954	NM_021147.5(CCNO):c.605C>T (p.Ala202Val)	CCNO (A202V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 846404	NM_021147.5(CCNO):c.589G>C (p.Val197Leu)	CCNO (V197L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2418866	NM_021147.5(CCNO):c.587G>T (p.Arg196Leu)	CCNO (R196L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 699079	NM_021147.5(CCNO):c.579C>T (p.His193=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2970801	NM_021147.5(CCNO):c.575T>G (p.Val192Gly)	CCNO (V192G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 665705	NM_021147.5(CCNO):c.568-1G>A	CCNO	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2041664	NM_021147.5(CCNO):c.568-16del	CCNO	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1258950	NM_021147.5(CCNO):c.568-194dup	CCNO	Duplication (intron variant)	not provided	GBenign
Select item 699918	NM_021147.5(CCNO):c.567+10G>A	CCNO	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1643677	NM_021147.5(CCNO):c.567+9G>A	CCNO	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2441875	NM_021147.5(CCNO):c.564_567+1delinsTCATCGCTTGCATCGCTTGCATCGCTTGCATCGC	CCNO	Indel (splice donor variant)	Primary ciliary dyskinesia 29	GLikely pathogenic
Select item 525346	NM_021147.5(CCNO):c.563A>G (p.Lys188Arg)	CCNO (K188R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 977584	NM_021147.5(CCNO):c.553_554del (p.Ile185fs)	CCNO (I185fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2502875	NM_021147.5(CCNO):c.548T>A (p.Leu183Ter)	CCNO (L183*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 29	GLikely pathogenic
Select item 525368	NM_021147.5(CCNO):c.538dup (p.Val180fs)	CCNO (V180fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 766755	NM_021147.5(CCNO):c.525C>T (p.Phe175=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1981286	NM_021147.5(CCNO):c.519C>G (p.Asp173Glu)	CCNO (D173E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 411593	NM_021147.5(CCNO):c.491T>C (p.Phe164Ser)	CCNO (F164S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2171384	NM_021147.5(CCNO):c.488G>T (p.Arg163Leu)	CCNO (R163L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2822051	NM_021147.5(CCNO):c.482_483del (p.Leu161fs)	CCNO (L161fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 952759	NM_021147.5(CCNO):c.482T>C (p.Leu161Pro)	CCNO (L161P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 139611	NM_021147.5(CCNO):c.481_482del (p.Leu161fs)	CCNO (L161fs)	Microsatellite (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2835591	NM_021147.5(CCNO):c.476del (p.Asn159fs)	CCNO (N159fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 665573	NM_021147.5(CCNO):c.463T>A (p.Cys155Ser)	CCNO (C155S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2760920	NM_021147.5(CCNO):c.462G>A (p.Leu154=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2988782	NM_021147.5(CCNO):c.460C>T (p.Leu154=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2834318	NM_021147.5(CCNO):c.453C>T (p.Phe151=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2976565	NM_021147.5(CCNO):c.445C>G (p.Leu149Val)	CCNO (L149V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1409035	NM_021147.5(CCNO):c.445C>A (p.Leu149Ile)	CCNO (L149I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525494	NM_021147.5(CCNO):c.435C>T (p.Arg145=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 951909	NM_021147.5(CCNO):c.427dup (p.Val143fs)	CCNO (V143fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 757132	NM_021147.5(CCNO):c.426G>T (p.Pro142=)	CCNO	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 800814	NM_021147.5(CCNO):c.425del (p.Pro142fs)	CCNO (P142fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 29	GPathogenic

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