CCNF[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1248348	NM_001761.3(CCNF):c.-1G>C	CCNF	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1258173	NM_001761.3(CCNF):c.16+214A>C	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248978	NM_001761.3(CCNF):c.17-183A>G	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231346	NM_001761.3(CCNF):c.17-27C>G	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2585153	NM_001761.3(CCNF):c.62G>A (p.Arg21Gln)	CCNF (R21Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	GUncertain significance
Select item 1015932	NM_001761.3(CCNF):c.71G>A (p.Arg24Lys)	CCNF (R24K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2309453	NM_001761.3(CCNF):c.85A>C (p.Asn29His)	CCNF (N29H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 732430	NM_001761.3(CCNF):c.111A>G (p.Glu37=)	CCNF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 2568509	NM_001761.3(CCNF):c.163G>A (p.Val55Ile)	CCNF (V55I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 753187	NM_001761.3(CCNF):c.177C>T (p.His59=)	CCNF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2441693	NM_001761.3(CCNF):c.205C>T (p.His69Tyr)	CCNF (H69Y)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	GUncertain significance
Select item 3264559	NM_001761.3(CCNF):c.215T>C (p.Val72Ala)	CCNF (V72A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043448	NM_001761.3(CCNF):c.220G>A (p.Ala74Thr)	CCNF (A74T)	Single nucleotide variant (missense variant +1 more)	CCNF-related disorder	GBenign
Select item 799846	NM_001761.3(CCNF):c.257G>A (p.Gly86Glu)	CCNF (G86E)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2683343	NM_001761.3(CCNF):c.262C>G (p.Leu88Val)	CCNF (L88V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 757098	NM_001761.3(CCNF):c.278+7C>G	CCNF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286541	NM_001761.3(CCNF):c.278+112T>C	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262373	NM_001761.3(CCNF):c.279-209AT[7]	CCNF	Microsatellite (intron variant)	not provided	GBenign
Select item 1231273	NM_001761.3(CCNF):c.279-206T>G	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269869	NM_001761.3(CCNF):c.279-178_279-161del	CCNF	Deletion (intron variant)	not provided	GBenign
Select item 1265725	NM_001761.3(CCNF):c.279-150CA[7]	CCNF	Microsatellite (intron variant)	not provided	GBenign
Select item 1249938	NM_001761.3(CCNF):c.279-142_279-129del	CCNF	Deletion (intron variant)	not provided	GBenign
Select item 1222199	NM_001761.3(CCNF):c.279-142_279-123del	CCNF	Deletion (intron variant)	not provided	GBenign
Select item 1294647	NM_001761.3(CCNF):c.279-140_279-123del	CCNF	Deletion (intron variant)	not provided	GBenign
Select item 1239890	NM_001761.3(CCNF):c.279-140_279-125del	CCNF	Deletion (intron variant)	not provided	GBenign
Select item 1234935	NM_001761.3(CCNF):c.279-139AT[10]	CCNF	Microsatellite (intron variant)	not provided	GBenign
Select item 3139926	NM_001761.3(CCNF):c.279G>A (p.Arg93=)	CCNF	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2619839	NM_001761.3(CCNF):c.279G>C (p.Arg93Ser)	CCNF (R93S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3264560	NM_001761.3(CCNF):c.287A>T (p.Glu96Val)	CCNF (E96V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 982987	NM_001761.3(CCNF):c.290A>G (p.Lys97Arg)	CCNF (K97R)	Single nucleotide variant (5 prime UTR variant +1 more)	Polyneuropathy	GUncertain significance
Select item 1393880	NM_001761.3(CCNF):c.329A>G (p.Tyr110Cys)	CCNF (Y110C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1248022	NM_001761.3(CCNF):c.346+22A>G	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229676	NM_001761.3(CCNF):c.347-132A>T	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233055	NM_001761.3(CCNF):c.347-118_347-117insT	CCNF	Insertion (intron variant)	not provided	GBenign
Select item 3044799	NM_001761.3(CCNF):c.347-4G>A	CCNF	Single nucleotide variant (intron variant)	CCNF-related disorder	GLikely benign
Select item 1344515	NM_001761.3(CCNF):c.373G>A (p.Glu125Lys)	CCNF (E125K)	Single nucleotide variant (5 prime UTR variant +1 more)	Frontotemporal dementia	Gno classifications from unflagged records
Select item 1343313	NM_001761.3(CCNF):c.419G>A (p.Arg140Gln)	CCNF (R140Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis +1 more	GUncertain significance
Select item 2355987	NM_001761.3(CCNF):c.427G>A (p.Val143Met)	CCNF (V143M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3034783	NM_001761.3(CCNF):c.435C>T (p.Ala145=)	CCNF	Single nucleotide variant (5 prime UTR variant +1 more)	CCNF-related disorder	GLikely benign
Select item 2627498	NM_001761.3(CCNF):c.436G>A (p.Ala146Thr)	CCNF (A146T)	Single nucleotide variant (5 prime UTR variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	GUncertain significance
Select item 1805877	NM_001761.3(CCNF):c.481G>A (p.Gly161Arg)	CCNF (G161R)	Single nucleotide variant (5 prime UTR variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	GUncertain significance
Select item 2480006	NM_001761.3(CCNF):c.496G>A (p.Ala166Thr)	CCNF (A166T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2646058	NM_001761.3(CCNF):c.498C>T (p.Ala166=)	CCNF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 748643	NM_001761.3(CCNF):c.540+3G>A	CCNF	Single nucleotide variant (intron variant)	CCNF-related disorder +1 more	GLikely benign
Select item 1289234	NM_001761.3(CCNF):c.540+97G>T	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258644	NM_001761.3(CCNF):c.540+161C>T	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263432	NM_001761.3(CCNF):c.541-216_541-215dup	CCNF	Duplication (intron variant)	not provided	GBenign
Select item 1280729	NM_001761.3(CCNF):c.541-149_541-148dup	CCNF	Duplication (intron variant)	not provided	GBenign
Select item 1221416	NM_001761.3(CCNF):c.541-148dup	CCNF	Duplication (intron variant)	not provided	GBenign
Select item 2473107	NM_001761.3(CCNF):c.546C>A (p.His182Gln)	CCNF (H182Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 992592	NM_001761.3(CCNF):c.585T>G (p.Ser195Arg)	CCNF (S195R)	Single nucleotide variant (5 prime UTR variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	GPathogenic
Select item 1256830	NM_001761.3(CCNF):c.594+87T>C	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240652	NM_001761.3(CCNF):c.595-248C>T	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224956	NM_001761.3(CCNF):c.699+75T>G	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2399421	NM_001761.3(CCNF):c.716G>A (p.Arg239Gln)	CCNF (R239Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3264562	NM_001761.3(CCNF):c.739C>G (p.Leu247Val)	CCNF (L247V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3026850	NM_001761.3(CCNF):c.742_743del (p.Arg248fs)	CCNF (R248fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2663336	NM_001761.3(CCNF):c.761G>C (p.Gly254Ala)	CCNF (G254A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1262813	NM_001761.3(CCNF):c.777+143C>T	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2276465	NM_001761.3(CCNF):c.799G>A (p.Ala267Thr)	CCNF (A267T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2388449	NM_001761.3(CCNF):c.889C>G (p.Gln297Glu)	CCNF (Q297E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1271713	NM_001761.3(CCNF):c.929+137dup	CCNF	Duplication (intron variant)	not provided	GBenign
Select item 1285773	NM_001761.3(CCNF):c.929+219G>A	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2362601	NM_001761.3(CCNF):c.1007A>G (p.Glu336Gly)	CCNF (E336G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051951	NM_001761.3(CCNF):c.1047G>T (p.Arg349=)	CCNF	Single nucleotide variant (synonymous variant)	CCNF-related disorder	GLikely benign
Select item 3044570	NM_001761.3(CCNF):c.1056C>T (p.Leu352=)	CCNF	Single nucleotide variant (synonymous variant)	CCNF-related disorder	GLikely benign
Select item 3264556	NM_001761.3(CCNF):c.1072G>A (p.Ala358Thr)	CCNF (A358T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1243820	NM_001761.3(CCNF):c.1094+105_1094+106dup	CCNF	Duplication (intron variant)	not provided	GBenign
Select item 1257021	NM_001761.3(CCNF):c.1094+107G>T	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181802	NM_001761.3(CCNF):c.1095-28A>G	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291600	NM_001761.3(CCNF):c.1095-7G>A	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3264557	NM_001761.3(CCNF):c.1099A>G (p.Ile367Val)	CCNF (I367V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992593	NM_001761.3(CCNF):c.1175G>C (p.Arg392Thr)	CCNF (R392T +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	GPathogenic
Select item 775366	NM_001761.3(CCNF):c.1188G>T (p.Glu396Asp)	CCNF (E88D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 735821	NM_001761.3(CCNF):c.1217G>A (p.Arg406Gln)	CCNF (R98Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1230457	NM_001761.3(CCNF):c.1218+32T>C	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047555	NM_001761.3(CCNF):c.1233G>A (p.Val411=)	CCNF	Single nucleotide variant (synonymous variant)	CCNF-related disorder	GLikely benign
Select item 746390	NM_001761.3(CCNF):c.1287C>T (p.His429=)	CCNF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755739	NM_001761.3(CCNF):c.1335C>T (p.Ser445=)	CCNF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2511824	NM_001761.3(CCNF):c.1352G>A (p.Arg451His)	CCNF (R451H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2646059	NM_001761.3(CCNF):c.1362C>T (p.Ala454=)	CCNF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714682	NM_001761.3(CCNF):c.1392C>T (p.His464=)	CCNF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3139921	NM_001761.3(CCNF):c.1393G>A (p.Gly465Arg)	CCNF (G157R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1237026	NM_001761.3(CCNF):c.1400-42TCCCCTCCA[3]	CCNF	Microsatellite (intron variant)	not provided	GBenign
Select item 2251972	NM_001761.3(CCNF):c.1412C>T (p.Thr471Ile)	CCNF (T471I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703946	NM_001761.3(CCNF):c.1438T>A (p.Phe480Ile)	CCNF (F172I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797735	NM_001761.3(CCNF):c.1464C>T (p.Cys488=)	CCNF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2248498	NM_001761.3(CCNF):c.1477C>T (p.His493Tyr)	CCNF (H185Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1289825	NM_001761.3(CCNF):c.1487+155G>C	CCNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3250778	NM_001761.3(CCNF):c.1500C>T (p.Asp500=)	CCNF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035972	NM_001761.3(CCNF):c.1592T>G (p.Leu531Arg)	CCNF (L223R +1 more)	Single nucleotide variant (missense variant)	CCNF-related disorder	GLikely benign
Select item 2646060	NM_001761.3(CCNF):c.1638C>T (p.Ser546=)	CCNF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301826	NM_001761.3(CCNF):c.1649C>T (p.Pro550Leu)	CCNF (P242L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231354	NM_001761.3(CCNF):c.1649C>A (p.Pro550Gln)	CCNF (P242Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556225	NM_001761.3(CCNF):c.1663A>T (p.Thr555Ser)	CCNF (T247S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322464	NM_001761.3(CCNF):c.1670A>T (p.Glu557Val)	CCNF (E249V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747538	NM_001761.3(CCNF):c.1677C>T (p.His559=)	CCNF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2492833	NM_001761.3(CCNF):c.1711A>G (p.Lys571Glu)	CCNF (K263E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759870	NM_001761.3(CCNF):c.1715+9C>T	CCNF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 759871	NM_001761.3(CCNF):c.1715+10C>T	CCNF	Single nucleotide variant (intron variant)	not provided	GLikely benign

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