CCDC65[Gene Name] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 242

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 1257988	NC_000012.12:g.48903941TAAA[12]	CCDC65	Microsatellite	not provided	GBenign
Select item 1245405	NC_000012.12:g.48903941TAAA[13]	CCDC65	Microsatellite	not provided	GBenign
Select item 1220044	NC_000012.12:g.48903941TAAA[14]	CCDC65	Microsatellite	not provided	GLikely benign
Select item 1241086	NC_000012.12:g.48903941TAAA[10]	CCDC65	Microsatellite	not provided	GBenign
Select item 1225879	NC_000012.12:g.48903941TAAA[8]	CCDC65	Microsatellite	not provided	GBenign
Select item 1194497	NC_000012.12:g.48903986T>C	CCDC65	Single nucleotide variant	not provided	GLikely benign
Select item 1250668	NC_000012.12:g.48904002A>G	CCDC65	Single nucleotide variant	not provided	GBenign
Select item 1232905	NC_000012.12:g.48904035C>T	CCDC65	Single nucleotide variant	not provided	GBenign
Select item 1283509	NC_000012.12:g.48904081C>T	CCDC65	Single nucleotide variant	not provided	GBenign
Select item 1294651	NM_033124.5(CCDC65):c.-61G>A	CCDC65	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1198595	NM_033124.5(CCDC65):c.-59T>C	CCDC65	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1010054	NM_033124.5(CCDC65):c.2T>A (p.Met1Lys)	CCDC65 (M1K)	Single nucleotide variant (5 prime UTR variant +2 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2182077	NM_033124.5(CCDC65):c.8A>G (p.Lys3Arg)	CCDC65 (K3R)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2740112	NM_033124.5(CCDC65):c.39C>T (p.Ser13=)	CCDC65	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GLikely benign
Select item 701438	NM_033124.5(CCDC65):c.51G>A (p.Gln17=)	CCDC65	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2919022	NM_033124.5(CCDC65):c.55C>A (p.Leu19Ile)	CCDC65 (L19I)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 948315	NM_033124.5(CCDC65):c.56T>G (p.Leu19Arg)	CCDC65 (L19R)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 837619	NM_033124.5(CCDC65):c.72G>T (p.Lys24Asn)	CCDC65 (K24N)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 474643	NM_033124.5(CCDC65):c.73T>A (p.Leu25Met)	CCDC65 (L25M)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2718998	NM_033124.5(CCDC65):c.78G>A (p.Leu26=)	CCDC65	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2056849	NM_033124.5(CCDC65):c.88G>A (p.Glu30Lys)	CCDC65 (E30K)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 3139271	NM_033124.5(CCDC65):c.90G>T (p.Glu30Asp)	CCDC65 (E30D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 961309	NM_033124.5(CCDC65):c.93G>A (p.Met31Ile)	CCDC65 (M31I)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2493201	NM_033124.5(CCDC65):c.101A>G (p.Lys34Arg)	CCDC65 (K34R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1919469	NM_033124.5(CCDC65):c.111G>A (p.Arg37=)	CCDC65	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1600885	NM_033124.5(CCDC65):c.132+11T>C	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GBenign
Select item 1277276	NM_033124.5(CCDC65):c.132+89C>T	CCDC65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275173	NM_033124.5(CCDC65):c.132+186G>T	CCDC65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236502	NM_033124.5(CCDC65):c.133-226T>C	CCDC65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1540235	NM_033124.5(CCDC65):c.133-13T>C	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1372259	NM_033124.5(CCDC65):c.135C>A (p.Asp45Glu)	CCDC65 (D45E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 541528	NM_033124.5(CCDC65):c.144_164del (p.Lys49_Ala55del)	CCDC65	Deletion (inframe_deletion +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2960289	NM_033124.5(CCDC65):c.144C>T (p.Ala48=)	CCDC65	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 27	GLikely benign
Select item 945038	NM_033124.5(CCDC65):c.147GGA[1] (p.Glu51del)	CCDC65 (E51del)	Microsatellite (inframe_deletion +1 more)	CCDC65-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2065694	NM_033124.5(CCDC65):c.155A>C (p.His52Pro)	CCDC65 (H52P)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 945447	NM_033124.5(CCDC65):c.159C>G (p.Asn53Lys)	CCDC65 (N53K)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27 +1 more	GUncertain significance
Select item 762067	NM_033124.5(CCDC65):c.162T>C (p.Ser54=)	CCDC65	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1574819	NM_033124.5(CCDC65):c.165T>C (p.Ala55=)	CCDC65	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GLikely benign
Select item 648266	NM_033124.5(CCDC65):c.184A>G (p.Asn62Asp)	CCDC65 (N62D)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2156089	NM_033124.5(CCDC65):c.195G>A (p.Trp65Ter)	CCDC65 (W65*)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GPathogenic
Select item 2820721	NM_033124.5(CCDC65):c.205dup (p.Leu69fs)	CCDC65 (L69fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia 27	GPathogenic
Select item 474636	NM_033124.5(CCDC65):c.203T>C (p.Val68Ala)	CCDC65 (V68A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2231339	NM_033124.5(CCDC65):c.206T>A (p.Leu69His)	CCDC65 (L69H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2044463	NM_033124.5(CCDC65):c.208C>T (p.Arg70Trp)	CCDC65 (R70W)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 568740	NM_033124.5(CCDC65):c.209G>A (p.Arg70Gln)	CCDC65 (R70Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 474637	NM_033124.5(CCDC65):c.214G>T (p.Val72Phe)	CCDC65 (V72F)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 416605	NM_033124.5(CCDC65):c.233A>T (p.His78Leu)	CCDC65 (H78L)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1397545	NM_033124.5(CCDC65):c.242T>C (p.Ile81Thr)	CCDC65 (I81T)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 1971752	NM_033124.5(CCDC65):c.260C>T (p.Thr87Ile)	CCDC65 (T87I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 1426614	NM_033124.5(CCDC65):c.263T>C (p.Phe88Ser)	CCDC65 (F88S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1975117	NM_033124.5(CCDC65):c.293T>C (p.Val98Ala)	CCDC65 (V98A)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 1514606	NM_033124.5(CCDC65):c.300+5G>A	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 1233076	NM_033124.5(CCDC65):c.300+299T>C	CCDC65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1586688	NM_033124.5(CCDC65):c.301-14T>C	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GBenign
Select item 2053470	NM_033124.5(CCDC65):c.301-2A>C	CCDC65	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 27	GLikely pathogenic
Select item 2061120	NM_033124.5(CCDC65):c.315C>A (p.Asp105Glu)	CCDC65 (D105E)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 1460276	NM_033124.5(CCDC65):c.321C>G (p.Ser107=)	CCDC65	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 27	GLikely benign
Select item 661614	NM_033124.5(CCDC65):c.322G>A (p.Glu108Lys)	CCDC65 (E108K)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 411132	NM_033124.5(CCDC65):c.325G>T (p.Ala109Ser)	CCDC65 (A109S)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 970876	NM_033124.5(CCDC65):c.326C>T (p.Ala109Val)	CCDC65 (A109V)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27 +1 more	GUncertain significance
Select item 1572706	NM_033124.5(CCDC65):c.327C>T (p.Ala109=)	CCDC65	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1516234	NM_033124.5(CCDC65):c.328G>A (p.Glu110Lys)	CCDC65 (E110K)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27 +1 more	GUncertain significance
Select item 1480959	NM_033124.5(CCDC65):c.334C>A (p.Gln112Lys)	CCDC65 (Q112K)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27 +1 more	GUncertain significance
Select item 2909984	NM_033124.5(CCDC65):c.339C>T (p.Tyr113=)	CCDC65	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2157433	NM_033124.5(CCDC65):c.340G>C (p.Ala114Pro)	CCDC65 (A114P)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27 +1 more	GUncertain significance
Select item 241745	NM_033124.5(CCDC65):c.341C>T (p.Ala114Val)	CCDC65 (A114V)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 474638	NM_033124.5(CCDC65):c.347C>T (p.Ala116Val)	CCDC65 (A116V)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2196699	NM_033124.5(CCDC65):c.352C>T (p.Arg118Cys)	CCDC65 (R118C)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27 +1 more	GUncertain significance
Select item 1397055	NM_033124.5(CCDC65):c.356G>A (p.Ser119Asn)	CCDC65 (S119N)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 474639	NM_033124.5(CCDC65):c.375C>T (p.Asp125=)	CCDC65	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 27	GBenign
Select item 2460894	NM_033124.5(CCDC65):c.397C>T (p.His133Tyr)	CCDC65 (H133Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 402501	NM_033124.5(CCDC65):c.398A>G (p.His133Arg)	CCDC65 (H133R)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 2003097	NM_033124.5(CCDC65):c.399C>G (p.His133Gln)	CCDC65 (H133Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2059039	NM_033124.5(CCDC65):c.400C>T (p.Arg134Trp)	CCDC65 (R134W)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2741924	NM_033124.5(CCDC65):c.401G>C (p.Arg134Pro)	CCDC65 (R134P)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 3046255	NM_033124.5(CCDC65):c.420A>G (p.Glu140=)	CCDC65	Single nucleotide variant (5 prime UTR variant +1 more)	CCDC65-related disorder	GLikely benign
Select item 416604	NM_033124.5(CCDC65):c.456G>A (p.Glu152=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1905890	NM_033124.5(CCDC65):c.469dup (p.Arg157fs)	CCDC65 (R14fs +1 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia 27	GPathogenic
Select item 1508617	NM_033124.5(CCDC65):c.470+1G>A	CCDC65	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 27	GLikely pathogenic
Select item 1423538	NM_033124.5(CCDC65):c.470+3A>G	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 1250781	NM_033124.5(CCDC65):c.470+119G>A	CCDC65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238290	NM_033124.5(CCDC65):c.471-29G>A	CCDC65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227151	NM_033124.5(CCDC65):c.471-28A>G	CCDC65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1143941	NM_033124.5(CCDC65):c.471-8T>G	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1306302	NM_033124.5(CCDC65):c.474G>C (p.Lys158Asn)	CCDC65 (K158N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1519582	NM_033124.5(CCDC65):c.482T>C (p.Ile161Thr)	CCDC65 (I161T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 474640	NM_033124.5(CCDC65):c.494del (p.Glu165fs)	CCDC65 (E22fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 27 +3 more	GPathogenic
Select item 262220	NM_033124.5(CCDC65):c.505C>A (p.His169Asn)	CCDC65 (H169N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1398319	NM_033124.5(CCDC65):c.533T>C (p.Met178Thr)	CCDC65 (M178T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 946619	NM_033124.5(CCDC65):c.535G>A (p.Glu179Lys)	CCDC65 (E36K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 241746	NM_033124.5(CCDC65):c.548T>C (p.Ile183Thr)	CCDC65 (I183T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 474641	NM_033124.5(CCDC65):c.549A>G (p.Ile183Met)	CCDC65 (I183M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1512194	NM_033124.5(CCDC65):c.586A>G (p.Met196Val)	CCDC65 (M196V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 698837	NM_033124.5(CCDC65):c.597T>C (p.Asp199=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1465484	NM_033124.5(CCDC65):c.609G>A (p.Met203Ile)	CCDC65 (M60I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 858318	NM_033124.5(CCDC65):c.609+5G>A	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 1570212	NM_033124.5(CCDC65):c.609+12G>A	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2032136	NM_033124.5(CCDC65):c.609+13A>G	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1593436	NM_033124.5(CCDC65):c.609+14G>A	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GBenign

<< First< Prev

Page of 3