ClinVar for Gene (Select 5199) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246563	NC_000023.10:g.(?_47432333)_(47489243_?)dup	CFP, SYN1 +1 more	Duplication	not provided	GUncertain significance
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3143843	NM_001145252.3(CFP):c.920A>G (p.Asn307Ser)	CFP (N307S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065206	NM_001145252.3(CFP):c.767-2A>T	CFP	Single nucleotide variant (splice acceptor variant)	Properdin deficiency, X-linked	GLikely pathogenic
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3043044	NM_001145252.3(CFP):c.*2A>T	CFP	Single nucleotide variant (3 prime UTR variant)	CFP-related disorder	GBenign
Select item 3015459	NM_001145252.3(CFP):c.1187G>A (p.Gly396Glu)	CFP (G396E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014989	NM_001145252.3(CFP):c.729C>T (p.Tyr243=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007652	NM_001145252.3(CFP):c.54G>A (p.Leu18=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007265	NM_001145252.3(CFP):c.941-14C>A	CFP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007258	NM_001145252.3(CFP):c.574+18del	CFP	Deletion (intron variant)	not provided	GLikely benign
Select item 3005238	NM_001145252.3(CFP):c.404-19C>T	CFP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004623	NM_001145252.3(CFP):c.227+10A>C	CFP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004148	NM_001145252.3(CFP):c.427G>A (p.Gly143Arg)	CFP (G143R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998822	NM_001145252.3(CFP):c.1324C>T (p.Leu442=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996863	NM_001145252.3(CFP):c.1049G>A (p.Cys350Tyr)	CFP (C350Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995401	NM_001145252.3(CFP):c.404-6C>G	CFP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2991821	NM_001145252.3(CFP):c.766+15G>A	CFP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991257	NM_001145252.3(CFP):c.1245-14C>T	CFP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987324	NM_001145252.3(CFP):c.142G>T (p.Gly48Trp)	CFP (G48W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986508	NM_001145252.3(CFP):c.227+13C>G	CFP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986002	NM_001145252.3(CFP):c.864G>A (p.Val288=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983082	NM_001145252.3(CFP):c.848C>T (p.Thr283Met)	CFP (T283M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978371	NM_001145252.3(CFP):c.477C>A (p.Arg159=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972993	NM_001145252.3(CFP):c.962G>T (p.Trp321Leu)	CFP (W321L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970497	NM_001145252.3(CFP):c.879C>T (p.Gly293=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969792	NM_001145252.3(CFP):c.1343T>C (p.Val448Ala)	CFP (V448A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969686	NM_001145252.3(CFP):c.269C>T (p.Ser90Leu)	CFP (S90L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955007	NM_001145252.3(CFP):c.348A>T (p.Ala116=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905348	NM_001145252.3(CFP):c.444C>T (p.Cys148=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900801	NM_001145252.3(CFP):c.77-3C>T	CFP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2889293	NM_001145252.3(CFP):c.29G>A (p.Arg10Gln)	CFP (R10Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878630	NM_001145252.3(CFP):c.664C>T (p.Arg222Cys)	CFP (R222C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877057	NM_001145252.3(CFP):c.403+8_403+10del	CFP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2869429	NM_001145252.3(CFP):c.403+20C>T	CFP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2868477	NM_001145252.3(CFP):c.1236C>T (p.Pro412=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863463	NM_001145252.3(CFP):c.468C>G (p.Thr156=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863437	NM_001145252.3(CFP):c.465G>A (p.Gly155=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848638	NM_001145252.3(CFP):c.118T>C (p.Ser40Pro)	CFP (S40P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847854	NM_001145252.3(CFP):c.1132+15_1132+16del	CFP	Deletion (intron variant)	not provided	GLikely benign
Select item 2843984	NM_001145252.3(CFP):c.1177C>G (p.Pro393Ala)	CFP (P393A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817435	NM_001145252.3(CFP):c.1301G>A (p.Arg434Lys)	CFP (R434K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815774	NM_001145252.3(CFP):c.25C>T (p.Pro9Ser)	CFP (P9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812320	NM_001145252.3(CFP):c.461A>G (p.Lys154Arg)	CFP (K154R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798684	NM_001145252.3(CFP):c.975C>A (p.Ser325Arg)	CFP (S325R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798211	NM_001145252.3(CFP):c.1132+19G>C	CFP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790830	NM_001145252.3(CFP):c.256T>C (p.Trp86Arg)	CFP (W86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788395	NM_001145252.3(CFP):c.1244+13G>A	CFP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785216	NM_001145252.3(CFP):c.379T>G (p.Cys127Gly)	CFP (C127G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783103	NM_001145252.3(CFP):c.766+2_766+10dup	CFP	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2781821	NM_001145252.3(CFP):c.599G>A (p.Gly200Asp)	CFP (G200D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2753560	NM_001145252.3(CFP):c.967G>A (p.Glu323Lys)	CFP (E323K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728660	NM_001145252.3(CFP):c.702T>C (p.Pro234=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723390	NM_001145252.3(CFP):c.1313G>A (p.Arg438Gln)	CFP (R438Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716648	NM_001145252.3(CFP):c.612C>T (p.Pro204=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715750	NM_001145252.3(CFP):c.270G>A (p.Ser90=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684979	GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3	ARAF, CDK16 +33 more	Copy number gain	not provided	GUncertain significance
Select item 2554793	NM_001145252.3(CFP):c.1237A>G (p.Lys413Glu)	CFP (K413E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	AKAP4, ARAF +91 more	Deletion	not provided	GPathogenic
Select item 2427222	NC_000023.10:g.(?_46466387)_(47489243_?)del	ARAF, CDK16 +15 more	Deletion	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	GAGE12E, GAGE12F +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 2422978	NC_000023.10:g.(?_46618120)_(48549553_?)del	ARAF, CDK16 +35 more	Deletion	not provided	GPathogenic
Select item 2420703	NM_001145252.3(CFP):c.984C>T (p.Ile328=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2381972	NM_001145252.3(CFP):c.1291T>G (p.Phe431Val)	CFP (F431V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2322032	NM_001145252.3(CFP):c.482G>A (p.Arg161Gln)	CFP (R161Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254584	NM_001145252.3(CFP):c.1174A>C (p.Met392Leu)	CFP (M392L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197149	NM_001145252.3(CFP):c.42G>A (p.Pro14=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190380	NM_001145252.3(CFP):c.1360C>T (p.Pro454Ser)	CFP (P454S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2189538	NM_001145252.3(CFP):c.1223C>T (p.Thr408Ile)	CFP (T408I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168809	NM_001145252.3(CFP):c.65T>C (p.Leu22Pro)	CFP (L22P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168803	NM_001145252.3(CFP):c.865C>T (p.Pro289Ser)	CFP (P289S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2133831	NM_001145252.3(CFP):c.1407C>G (p.Leu469=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122468	NM_001145252.3(CFP):c.1329A>G (p.Gln443=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2121373	NM_001145252.3(CFP):c.709C>T (p.Pro237Ser)	CFP (P237S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104200	NM_001145252.3(CFP):c.1332G>A (p.Gly444=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097338	NM_001145252.3(CFP):c.1244+1G>A	CFP	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2074135	NM_001145252.3(CFP):c.263C>A (p.Pro88His)	CFP (P88H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072280	NM_001145252.3(CFP):c.209G>A (p.Gly70Glu)	CFP (G70E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051469	NM_001145252.3(CFP):c.1301G>C (p.Arg434Thr)	CFP (R434T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2029675	NM_001145252.3(CFP):c.411C>T (p.Gly137=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026910	NM_001145252.3(CFP):c.702T>G (p.Pro234=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011905	NM_001145252.3(CFP):c.472A>G (p.Thr158Ala)	CFP (T158A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011449	NM_001145252.3(CFP):c.964G>A (p.Gly322Arg)	CFP (G322R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007762	NM_001145252.3(CFP):c.1076G>A (p.Arg359Gln)	CFP (R359Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003779	NM_001145252.3(CFP):c.959C>T (p.Ser320Leu)	CFP (S320L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991793	NM_001145252.3(CFP):c.412G>A (p.Gly138Ser)	CFP (G138S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989193	NM_001145252.3(CFP):c.404-10T>C	CFP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1983136	NM_001145252.3(CFP):c.141G>C (p.Leu47=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980446	NM_001145252.3(CFP):c.1198A>G (p.Thr400Ala)	CFP (T400A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972146	NM_001145252.3(CFP):c.575-3C>T	CFP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1970701	NM_001145252.3(CFP):c.232C>G (p.Pro78Ala)	CFP (P78A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966614	NM_001145252.3(CFP):c.44C>T (p.Pro15Leu)	CFP (P15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965970	NM_001145252.3(CFP):c.87C>G (p.Pro29=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964232	NM_001145252.3(CFP):c.1179C>T (p.Pro393=)	CFP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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