ClinVar for MedGen (Select 816031) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3014699	NM_033124.5(CCDC65):c.1440A>G (p.Gln480=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 3014601	NM_033124.5(CCDC65):c.609+15T>C	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2986672	NM_033124.5(CCDC65):c.1096T>C (p.Phe366Leu)	CCDC65 (F223L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2975753	NM_033124.5(CCDC65):c.1434T>C (p.Asp478=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
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 2958441	NM_033124.5(CCDC65):c.609+16A>G	CCDC65	Single nucleotide variant (intron variant)	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 2916429	NM_033124.5(CCDC65):c.968_971del (p.Val323fs)	CCDC65 (V323fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 27	GPathogenic
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 2902897	NM_033124.5(CCDC65):c.1075G>A (p.Glu359Lys)	CCDC65 (E359K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2898341	NM_033124.5(CCDC65):c.762C>T (p.Ser254=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2852509	NM_033124.5(CCDC65):c.1180-9C>T	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2820721	NM_033124.5(CCDC65):c.205dup (p.Leu69fs)	CCDC65 (L69fs)	Duplication (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GPathogenic
Select item 2800506	NM_033124.5(CCDC65):c.975C>T (p.Leu325=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2770791	NM_033124.5(CCDC65):c.1180-19C>T	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2761918	NM_033124.5(CCDC65):c.808-20A>C	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2750158	NM_033124.5(CCDC65):c.1155A>G (p.Glu385=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
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 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 2725868	NM_033124.5(CCDC65):c.808-10G>A	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2723507	NM_033124.5(CCDC65):c.1179+9del	CCDC65	Deletion (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2723189	NM_033124.5(CCDC65):c.702T>C (p.Thr234=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2718998	NM_033124.5(CCDC65):c.78G>A (p.Leu26=)	CCDC65	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2420128	NM_033124.5(CCDC65):c.1342G>A (p.Glu448Lys)	CCDC65 (E305K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2200154	NM_033124.5(CCDC65):c.651C>T (p.Asn217=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2197105	NM_033124.5(CCDC65):c.872G>A (p.Arg291Gln)	CCDC65 (R148Q +1 more)	Single nucleotide variant (missense variant)	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 2193740	NM_033124.5(CCDC65):c.1026+14G>A	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2187455	NM_033124.5(CCDC65):c.719G>A (p.Arg240Gln)	CCDC65 (R240Q +1 more)	Single nucleotide variant (missense variant)	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 2166194	NM_033124.5(CCDC65):c.913C>T (p.Arg305Ter)	CCDC65 (R162* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 27	GConflicting classifications of pathogenicity
Select item 2162404	NM_033124.5(CCDC65):c.1247T>C (p.Leu416Pro)	CCDC65 (L416P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2157433	NM_033124.5(CCDC65):c.340G>C (p.Ala114Pro)	CCDC65 (A114P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	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 2144871	NM_033124.5(CCDC65):c.903T>C (p.Leu301=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2137564	NM_033124.5(CCDC65):c.835A>T (p.Ile279Phe)	CCDC65 (I279F +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 2101225	NM_033124.5(CCDC65):c.1422C>T (p.Ala474=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
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 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 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 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 2053606	NM_033124.5(CCDC65):c.699del (p.Asn232_Tyr233insTer)	CCDC65	Deletion (nonsense)	Primary ciliary dyskinesia 27	GPathogenic
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 2051023	NM_033124.5(CCDC65):c.1026+12G>A	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
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 2032136	NM_033124.5(CCDC65):c.609+13A>G	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 2014322	NM_033124.5(CCDC65):c.1022A>G (p.Asp341Gly)	CCDC65 (D198G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
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 2003034	NM_033124.5(CCDC65):c.1155A>C (p.Glu385Asp)	CCDC65 (E242D +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 1996598	NM_033124.5(CCDC65):c.1131G>A (p.Glu377=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
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 1971752	NM_033124.5(CCDC65):c.260C>T (p.Thr87Ile)	CCDC65 (T87I)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 1959634	NM_033124.5(CCDC65):c.904_905del (p.Val302fs)	CCDC65 (V159fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 27	GPathogenic
Select item 1957216	NM_033124.5(CCDC65):c.1098T>C (p.Phe366=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1948788	NM_033124.5(CCDC65):c.944G>A (p.Arg315Gln)	CCDC65 (R172Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27 +1 more	GUncertain significance
Select item 1926536	NM_033124.5(CCDC65):c.904G>A (p.Val302Ile)	CCDC65 (V302I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 1926102	NM_033124.5(CCDC65):c.957GAA[1] (p.Lys320del)	CCDC65 (K320del +1 more)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia 27	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 1905890	NM_033124.5(CCDC65):c.469dup (p.Arg157fs)	CCDC65 (R14fs +1 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia 27	GPathogenic
Select item 1662026	NM_033124.5(CCDC65):c.1027-12C>T	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1612645	NM_033124.5(CCDC65):c.1027-15T>C	CCDC65	Single nucleotide variant (intron variant)	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 1593436	NM_033124.5(CCDC65):c.609+14G>A	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	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 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 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 1570212	NM_033124.5(CCDC65):c.609+12G>A	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1561447	NM_033124.5(CCDC65):c.610-13G>A	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1560735	NM_033124.5(CCDC65):c.808-14C>T	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1548824	NM_033124.5(CCDC65):c.1179+9C>T	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign
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 1538999	NM_033124.5(CCDC65):c.1179+14del	CCDC65	Deletion (intron variant)	Primary ciliary dyskinesia 27	GBenign
Select item 1535725	NM_033124.5(CCDC65):c.1027-11G>A	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GBenign
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 1516234	NM_033124.5(CCDC65):c.328G>A (p.Glu110Lys)	CCDC65 (E110K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	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 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 1508617	NM_033124.5(CCDC65):c.470+1G>A	CCDC65	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 27	GLikely pathogenic
Select item 1493309	NM_033124.5(CCDC65):c.657AGA[1] (p.Glu220del)	CCDC65 (E77del +1 more)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia 27	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)	Inborn genetic diseases +1 more	GUncertain significance
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 1463245	NM_033124.5(CCDC65):c.823T>G (p.Ser275Ala)	CCDC65 (S275A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 1460276	NM_033124.5(CCDC65):c.321C>G (p.Ser107=)	CCDC65	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1450804	NM_033124.5(CCDC65):c.739del (p.Leu247fs)	CCDC65 (L104fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 27	GPathogenic
Select item 1431507	NM_033124.5(CCDC65):c.1087G>T (p.Val363Leu)	CCDC65 (V363L +1 more)	Single nucleotide variant (missense variant)	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)	Primary ciliary dyskinesia 27 +1 more	GUncertain significance
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 1407125	NM_033124.5(CCDC65):c.850C>T (p.Arg284Cys)	CCDC65 (R141C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
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 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 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 1385325	NM_033124.5(CCDC65):c.653G>A (p.Arg218Lys)	CCDC65 (R218K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 1372259	NM_033124.5(CCDC65):c.135C>A (p.Asp45Glu)	CCDC65 (D45E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1356192	NM_033124.5(CCDC65):c.1059T>C (p.Cys353=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1351969	NM_033124.5(CCDC65):c.816A>G (p.Ile272Met)	CCDC65 (I129M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27	GUncertain significance
Select item 1306302	NM_033124.5(CCDC65):c.474G>C (p.Lys158Asn)	CCDC65 (K158N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 27 +1 more	GUncertain significance
Select item 1235140	NM_033124.5(CCDC65):c.1179+15A>T	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27 +1 more	GBenign
Select item 1170517	NM_033124.5(CCDC65):c.747G>A (p.Val249=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GBenign
Select item 1160354	NM_033124.5(CCDC65):c.1348C>T (p.Leu450=)	CCDC65	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 27	GLikely benign
Select item 1159093	NM_033124.5(CCDC65):c.808-4C>T	CCDC65	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 27	GLikely benign

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