ClinVar for Gene (Select 288) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242565	NM_020987.5(ANK3):c.6457T>C (p.Phe2153Leu)	ANK3 (F2153L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3239430	NM_020987.5(ANK3):c.12587C>T (p.Pro4196Leu)	ANK3 (P1577L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239351	NM_020987.5(ANK3):c.3199T>G (p.Phe1067Val)	ANK3 (F1061V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239350	NM_020987.5(ANK3):c.652G>A (p.Ala218Thr)	ANK3 (A201T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239207	NM_020987.5(ANK3):c.645G>A (p.Thr215=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234929	NM_020987.5(ANK3):c.2611G>A (p.Glu871Lys)	ANK3 (E854K +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3234818	NM_020987.5(ANK3):c.8199G>A (p.Met2733Ile)	ANK3 (M2733I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3120116	NM_020987.5(ANK3):c.9505C>T (p.Pro3169Ser)	ANK3 (P3169S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3120102	NM_020987.5(ANK3):c.9262G>A (p.Glu3088Lys)	ANK3 (E3088K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3120039	NM_020987.5(ANK3):c.7708A>C (p.Lys2570Gln)	ANK3 (K2570Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119987	NM_020987.5(ANK3):c.6779G>A (p.Gly2260Asp)	ANK3, LOC130003862 (G2260D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119982	NM_020987.5(ANK3):c.6763C>T (p.His2255Tyr)	ANK3, LOC130003862 (H2255Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119951	NM_020987.5(ANK3):c.6430G>A (p.Ala2144Thr)	ANK3 (A2144T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119934	NM_020987.5(ANK3):c.5822A>G (p.Asp1941Gly)	ANK3 (D1941G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119927	NM_020987.5(ANK3):c.5584G>A (p.Glu1862Lys)	ANK3 (E1862K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119888	NM_020987.5(ANK3):c.4652C>G (p.Ser1551Cys)	ANK3 (S1551C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119886	NM_020987.5(ANK3):c.4647C>G (p.Ile1549Met)	ANK3 (I1549M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119867	NM_020987.5(ANK3):c.4218A>T (p.Gln1406His)	ANK3 (Q540H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3119859	NM_020987.5(ANK3):c.3973G>A (p.Glu1325Lys)	ANK3 (E1325K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119841	NM_020987.5(ANK3):c.3242G>A (p.Arg1081Gln)	ANK3 (R1075Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119834	NM_020987.5(ANK3):c.3160G>C (p.Ala1054Pro)	ANK3 (A1048P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119812	NM_020987.5(ANK3):c.3022A>G (p.Ile1008Val)	ANK3 (I1009V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119803	NM_020987.5(ANK3):c.2504A>G (p.Asn835Ser)	ANK3 (N829S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119782	NM_020987.5(ANK3):c.2159G>A (p.Gly720Glu)	ANK3 (G714E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119771	NM_020987.5(ANK3):c.2053G>A (p.Gly685Ser)	ANK3 (G306S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3119766	NM_020987.5(ANK3):c.2014G>T (p.Ala672Ser)	ANK3 (A666S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119758	NM_020987.5(ANK3):c.1626G>T (p.Glu542Asp)	ANK3 (E163D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119756	NM_020987.5(ANK3):c.1414A>G (p.Met472Val)	ANK3 (M466V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119742	NM_020987.5(ANK3):c.13004C>T (p.Ala4335Val)	ANK3 (A1819V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119739	NM_020987.5(ANK3):c.12987G>A (p.Met4329Ile)	ANK3 (M953I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119725	NM_020987.5(ANK3):c.12151A>G (p.Thr4051Ala)	ANK3 (T4051A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3119713	NM_020987.5(ANK3):c.12014G>T (p.Gly4005Val)	ANK3 (G4005V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119676	NM_020987.5(ANK3):c.11537T>C (p.Val3846Ala)	ANK3 (V3846A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119625	NM_020987.5(ANK3):c.10174A>G (p.Ile3392Val)	ANK3 (I3392V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3067717	NM_020987.5(ANK3):c.5077A>C (p.Lys1693Gln)	ANK3 (K1693Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067460	NM_020987.5(ANK3):c.12111G>A (p.Ser4037=)	ANK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3067266	NM_020987.5(ANK3):c.11804A>G (p.Gln3935Arg)	ANK3 (Q3935R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3066308	NM_020987.5(ANK3):c.815T>C (p.Leu272Ser)	ANK3 (L255S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3065525	NM_020987.5(ANK3):c.1069A>T (p.Asn357Tyr)	ANK3 (N340Y +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3064033	NM_020987.5(ANK3):c.1618G>A (p.Ala540Thr)	ANK3 (A161T +3 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3063161	GRCh37/hg19 10q21.1-21.2(chr10:59447320-64201694)x1	ANK3, ARID5B +15 more	Copy number loss	not specified	GUncertain significance
Select item 3057791	NM_020987.5(ANK3):c.2184+7G>A	ANK3	Single nucleotide variant (intron variant)	ANK3-related disorder	GLikely benign
Select item 3053735	NM_020987.5(ANK3):c.114+8T>C	ANK3	Single nucleotide variant (intron variant)	ANK3-related disorder	GLikely benign
Select item 3053386	NM_020987.5(ANK3):c.4257G>A (p.Lys1419=)	ANK3	Single nucleotide variant (synonymous variant)	ANK3-related disorder	GLikely benign
Select item 3049430	NM_020987.5(ANK3):c.7939G>C (p.Val2647Leu)	ANK3 (V2647L)	Single nucleotide variant (missense variant +1 more)	ANK3-related disorder	GUncertain significance
Select item 3041265	NM_020987.5(ANK3):c.12596-496T>G	ANK3 (Y1607D +3 more)	Single nucleotide variant (missense variant +1 more)	ANK3-related disorder	GLikely benign
Select item 3039290	NM_020987.5(ANK3):c.4263A>C (p.Thr1421=)	ANK3	Single nucleotide variant (synonymous variant)	ANK3-related disorder	GLikely benign
Select item 3037817	NM_020987.5(ANK3):c.1690-7_1690-4dup	ANK3	Duplication (intron variant)	ANK3-related disorder	GLikely benign
Select item 3036537	NM_020987.5(ANK3):c.3279T>C (p.Phe1093=)	ANK3	Single nucleotide variant (synonymous variant)	ANK3-related disorder	GLikely benign
Select item 3036199	NM_020987.5(ANK3):c.11033C>T (p.Pro3678Leu)	ANK3 (P3678L)	Single nucleotide variant (missense variant +1 more)	ANK3-related disorder	GUncertain significance
Select item 3035061	NM_020987.5(ANK3):c.8856C>T (p.Ser2952=)	ANK3	Single nucleotide variant (synonymous variant +1 more)	ANK3-related disorder	GLikely benign
Select item 3034395	NM_020987.5(ANK3):c.12596-377T>C	ANK3	Single nucleotide variant (synonymous variant +1 more)	ANK3-related disorder	GBenign
Select item 3032909	NM_020987.5(ANK3):c.8929G>A (p.Asp2977Asn)	ANK3 (D2977N)	Single nucleotide variant (missense variant +1 more)	ANK3-related disorder	GUncertain significance
Select item 3031807	NM_020987.5(ANK3):c.9939C>T (p.Asp3313=)	ANK3	Single nucleotide variant (synonymous variant +1 more)	ANK3-related disorder	GLikely benign
Select item 3031602	NM_020987.5(ANK3):c.11191A>G (p.Met3731Val)	ANK3 (M3731V)	Single nucleotide variant (missense variant +1 more)	ANK3-related disorder	GUncertain significance
Select item 3030241	NM_020987.5(ANK3):c.6627C>T (p.Thr2209=)	ANK3	Single nucleotide variant (synonymous variant +1 more)	ANK3-related disorder	GLikely benign
Select item 3029779	NM_020987.5(ANK3):c.1074A>G (p.Val358=)	ANK3	Single nucleotide variant (synonymous variant)	ANK3-related disorder	GLikely benign
Select item 3027257	NM_020987.5(ANK3):c.9328CAA[1] (p.Gln3111del)	ANK3 (Q3111del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3026820	NM_020987.5(ANK3):c.11826G>A (p.Lys3942=)	ANK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026617	NM_020987.5(ANK3):c.8679A>G (p.Gln2893=)	ANK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026420	NM_020987.5(ANK3):c.273T>C (p.Ser91=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 3024109	NM_020987.5(ANK3):c.1495G>T (p.Asp499Tyr)	ANK3 (D120Y +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3024108	NM_020987.5(ANK3):c.3932T>C (p.Met1311Thr)	ANK3 (M1305T +3 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3022818	NM_020987.5(ANK3):c.13066-12C>T	ANK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3022008	NM_020987.5(ANK3):c.4239T>A (p.Ser1413=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021810	NM_020987.5(ANK3):c.2185-19A>T	ANK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021780	NM_020987.5(ANK3):c.4771A>G (p.Asn1591Asp)	ANK3 (N1591D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3018715	NM_020987.5(ANK3):c.11808G>A (p.Gly3936=)	ANK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017838	NM_020987.5(ANK3):c.5007G>A (p.Pro1669=)	ANK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017590	NM_020987.5(ANK3):c.11540T>C (p.Leu3847Pro)	ANK3 (L3847P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014950	NM_020987.5(ANK3):c.12320-5T>C	ANK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011770	NM_020987.5(ANK3):c.2978G>C (p.Arg993Thr)	ANK3 (R987T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007831	NM_020987.5(ANK3):c.11202G>A (p.Lys3734=)	ANK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001645	NM_020987.5(ANK3):c.8827G>A (p.Gly2943Arg)	ANK3 (G2943R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2999358	NM_020987.5(ANK3):c.2043G>A (p.Ser681=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998778	NM_020987.5(ANK3):c.11710T>A (p.Ser3904Thr)	ANK3 (S3904T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997058	NM_020987.5(ANK3):c.4054G>T (p.Ala1352Ser)	ANK3 (A1353S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995476	NM_020987.5(ANK3):c.8779A>C (p.Lys2927Gln)	ANK3 (K2927Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2995255	NM_020987.5(ANK3):c.12467C>T (p.Ser4156Leu)	ANK3 (S1544L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993476	NM_020987.5(ANK3):c.3759G>A (p.Ser1253=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993419	NM_020987.5(ANK3):c.7747G>A (p.Glu2583Lys)	ANK3 (E2583K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2988090	NM_020987.5(ANK3):c.12740A>G (p.Lys4247Arg)	ANK3 (K1737R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986531	NM_020987.5(ANK3):c.9564G>T (p.Ser3188=)	ANK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986368	NM_020987.5(ANK3):c.644C>T (p.Thr215Met)	ANK3 (T209M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985752	NM_020987.5(ANK3):c.1774_1775delinsAT (p.Asp592Ile)	ANK3 (D575I +3 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2984255	NM_020987.5(ANK3):c.3063C>G (p.Thr1021=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983840	NM_020987.5(ANK3):c.11184A>G (p.Ala3728=)	ANK3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2979797	NM_020987.5(ANK3):c.2369A>G (p.Asn790Ser)	ANK3 (N411S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976496	NM_020987.5(ANK3):c.4877C>A (p.Pro1626Gln)	ANK3 (P1626Q)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2976329	NM_020987.5(ANK3):c.8225G>A (p.Gly2742Asp)	ANK3 (G2742D)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2976156	NM_020987.5(ANK3):c.1410G>A (p.Leu470=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975813	NM_020987.5(ANK3):c.3228A>G (p.Glu1076=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975332	NM_020987.5(ANK3):c.1959T>C (p.Tyr653=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970930	NM_020987.5(ANK3):c.8347G>T (p.Asp2783Tyr)	ANK3 (D2783Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968802	NM_020987.5(ANK3):c.4284G>A (p.Ala1428=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962432	NM_020987.5(ANK3):c.5135A>T (p.Glu1712Val)	ANK3 (E1712V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2960192	NM_020987.5(ANK3):c.7669A>T (p.Met2557Leu)	ANK3 (M2557L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2957986	NM_020987.5(ANK3):c.11515T>C (p.Cys3839Arg)	ANK3 (C3839R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2957446	NM_020987.5(ANK3):c.8597A>G (p.Gln2866Arg)	ANK3 (Q2866R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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