ClinVar for Gene (Select 3835) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338892	NM_007317.3(KIF22):c.947C>T (p.Pro316Leu)	KIF22 (P248L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288534	NM_007317.3(KIF22):c.1013A>T (p.His338Leu)	KIF22 (H270L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288533	NM_007317.3(KIF22):c.1694C>T (p.Ala565Val)	KIF22 (A565V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288532	NM_007317.3(KIF22):c.1475T>A (p.Leu492Gln)	KIF22 (L492Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3243486	NC_000016.9:g.(?_29814750)_(29825274_?)del	KIF22, MAZ +1 more	Deletion	Episodic kinesigenic dyskinesia	GPathogenic
Select item 3148952	GRCh37/hg19 16p11.2(chr16:29428532-30190029)x1	ALDOA, ASPHD1 +27 more	Copy number loss	See cases	GPathogenic
Select item 3148938	GRCh37/hg19 16p11.2(chr16:29580021-30190029)x3	ALDOA, ASPHD1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 3148921	GRCh37/hg19 16p11.2(chr16:29591327-30190029)x1	ALDOA, ASPHD1 +24 more	Copy number loss	See cases	GPathogenic
Select item 3148854	GRCh37/hg19 16p11.2(chr16:29412503-30190029)x3	ALDOA, ASPHD1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 3114673	NM_007317.3(KIF22):c.1855G>A (p.Val619Met)	KIF22 (V551M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114672	NM_007317.3(KIF22):c.1359G>C (p.Gln453His)	KIF22 (Q453H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114671	NM_007317.3(KIF22):c.1247T>C (p.Met416Thr)	KIF22 (M348T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114670	NM_007317.3(KIF22):c.1195G>A (p.Ala399Thr)	KIF22 (A331T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114668	NM_007317.3(KIF22):c.1163T>C (p.Leu388Pro)	KIF22 (L320P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114667	NM_007317.3(KIF22):c.1124A>G (p.Asn375Ser)	KIF22 (N375S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063436	GRCh37/hg19 16p11.2(chr16:29427215-30177240)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3063430	GRCh37/hg19 16p11.2(chr16:29383808-30191848)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3063416	GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062345	GRCh38/hg38 16p11.2(chr16:29642391-30204353)	LOC121587541, LOC121847976 +105 more	Copy number loss	Epilepsy syndrome	GPathogenic, low penetrance
Select item 3051278	NM_007317.3(KIF22):c.189C>T (p.Pro63=)	KIF22	Single nucleotide variant (5 prime UTR variant +1 more)	KIF22-related disorder	GLikely benign
Select item 3047237	NM_007317.3(KIF22):c.1610-7C>T	KIF22	Single nucleotide variant (intron variant)	KIF22-related disorder	GLikely benign
Select item 3029443	NM_007317.3(KIF22):c.1677+3del	KIF22	Deletion (intron variant)	KIF22-related disorder	GLikely benign
Select item 3024604	GRCh37/hg19 16p11.2(chr16:29495010-30200397)x1	ALDOA, ASPHD1 +25 more	Copy number loss	not provided	GPathogenic
Select item 3024603	GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1	ALDOA, ASPHD1 +29 more	Copy number loss	not provided	GPathogenic
Select item 3024180	GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1	LOC130058763, LOC130058764 +107 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 3023567	NM_007317.3(KIF22):c.1792G>A (p.Glu598Lys)	KIF22 (E598K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021517	NM_007317.3(KIF22):c.724C>T (p.Arg242Cys)	KIF22 (R242C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021491	NM_007317.3(KIF22):c.5C>G (p.Ala2Gly)	KIF22 (A2G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3020913	NM_007317.3(KIF22):c.1705G>A (p.Glu569Lys)	KIF22 (E501K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020679	NM_007317.3(KIF22):c.1891-12C>T	KIF22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020478	NM_007317.3(KIF22):c.1281C>T (p.Ser427=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3017839	NM_007317.3(KIF22):c.1801G>A (p.Ala601Thr)	KIF22 (A533T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3014762	NM_007317.3(KIF22):c.206T>C (p.Met69Thr)	KIF22 (M69T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010964	NM_007317.3(KIF22):c.1071C>T (p.Ser357=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3010238	NM_007317.3(KIF22):c.463C>T (p.Leu155=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008582	NM_007317.3(KIF22):c.1449+18G>A	KIF22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007809	NM_007317.3(KIF22):c.1148T>C (p.Leu383Ser)	KIF22 (L315S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997770	NM_007317.3(KIF22):c.1106_1107delinsAA (p.Ile369Lys)	KIF22 (I369K +1 more)	Indel (missense variant)	not provided	GBenign
Select item 2997707	NM_007317.3(KIF22):c.256C>G (p.Leu86Val)	KIF22 (L18V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997496	NM_007317.3(KIF22):c.489C>T (p.Ala163=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994273	NM_007317.3(KIF22):c.1449+1G>A	KIF22	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2993523	NM_007317.3(KIF22):c.395-8del	KIF22	Deletion (intron variant)	not provided	GLikely benign
Select item 2991577	NM_007317.3(KIF22):c.80G>T (p.Arg27Leu)	KIF22 (R27L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2987670	NM_007317.3(KIF22):c.1704T>G (p.Pro568=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987041	NM_007317.3(KIF22):c.1434G>A (p.Lys478=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985620	NM_007317.3(KIF22):c.198G>A (p.Val66=)	KIF22	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2980032	NM_007317.3(KIF22):c.1450-16T>G	KIF22	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2979698	NM_007317.3(KIF22):c.1973C>T (p.Ala658Val)	KIF22 (A590V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962547	NM_007317.3(KIF22):c.990+19_990+20del	KIF22	Deletion (intron variant)	not provided	GLikely benign
Select item 2960803	NM_007317.3(KIF22):c.1609+19G>C	KIF22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959625	NM_007317.3(KIF22):c.1678C>G (p.Leu560Val)	KIF22 (L492V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955119	NM_007317.3(KIF22):c.322G>T (p.Val108Leu)	KIF22 (V108L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954821	NM_007317.3(KIF22):c.759+8C>T	KIF22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906899	NM_007317.3(KIF22):c.703G>A (p.Gly235Arg)	KIF22 (G235R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906055	NM_007317.3(KIF22):c.1461G>A (p.Thr487=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903647	NM_007317.3(KIF22):c.1235G>A (p.Ser412Asn)	KIF22 (S412N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901556	NM_007317.3(KIF22):c.1074A>G (p.Ala358=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900794	NM_007317.3(KIF22):c.1311G>A (p.Pro437=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894720	NM_007317.3(KIF22):c.604C>T (p.Arg202Trp)	KIF22 (R134W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893019	NM_007317.3(KIF22):c.1207C>G (p.Arg403Gly)	KIF22 (R335G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891966	NM_007317.3(KIF22):c.1253C>T (p.Ala418Val)	KIF22 (A350V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2891146	NM_007317.3(KIF22):c.710C>A (p.Thr237Asn)	KIF22 (T169N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888632	NM_007317.3(KIF22):c.985T>C (p.Leu329=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883955	NM_007317.3(KIF22):c.35G>T (p.Arg12Leu)	KIF22 (R12L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2880130	NM_007317.3(KIF22):c.578G>A (p.Gly193Glu)	KIF22 (G125E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876638	NM_007317.3(KIF22):c.1449+14G>A	KIF22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875821	NM_007317.3(KIF22):c.1280+14C>A	KIF22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870678	NM_007317.3(KIF22):c.1894G>C (p.Glu632Gln)	KIF22 (E632Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870619	NM_007317.3(KIF22):c.1719G>C (p.Glu573Asp)	KIF22 (E573D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868580	NM_007317.3(KIF22):c.454A>G (p.Met152Val)	KIF22 (M84V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868357	NM_007317.3(KIF22):c.1293G>C (p.Lys431Asn)	KIF22 (K363N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867636	NM_007317.3(KIF22):c.1951-19C>T	KIF22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865309	NM_007317.3(KIF22):c.1180C>T (p.Leu394Phe)	KIF22 (L326F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863561	NM_007317.3(KIF22):c.1145-10A>C	KIF22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855273	NM_007317.3(KIF22):c.739C>T (p.His247Tyr)	KIF22 (H179Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852714	NM_007317.3(KIF22):c.1967T>C (p.Leu656Pro)	KIF22 (L656P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2842251	NM_007317.3(KIF22):c.1367A>G (p.Gln456Arg)	KIF22 (Q388R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817310	NM_007317.3(KIF22):c.28A>T (p.Arg10Trp)	KIF22 (R10W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2816257	NM_007317.3(KIF22):c.1891-10G>C	KIF22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794575	NM_007317.3(KIF22):c.1902G>A (p.Leu634=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793600	NM_007317.3(KIF22):c.1797C>T (p.Gly599=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790511	NM_007317.3(KIF22):c.1639G>A (p.Glu547Lys)	KIF22 (E479K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789942	NM_007317.3(KIF22):c.1746G>A (p.Pro582=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787293	NM_007317.3(KIF22):c.950G>A (p.Arg317His)	KIF22 (R317H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783818	NM_007317.3(KIF22):c.71-16A>T	KIF22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765626	NM_007317.3(KIF22):c.1801G>C (p.Ala601Pro)	KIF22 (A533P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755405	NM_007317.3(KIF22):c.1890+5C>G	KIF22, LOC130058782	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2753589	NM_007317.3(KIF22):c.343T>G (p.Leu115Val)	KIF22 (L115V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2751756	NM_007317.3(KIF22):c.1237C>T (p.Pro413Ser)	KIF22 (P345S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735755	NM_007317.3(KIF22):c.37G>A (p.Glu13Lys)	KIF22 (E13K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2734094	NM_007317.3(KIF22):c.430C>A (p.Pro144Thr)	KIF22 (P144T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706611	NM_007317.3(KIF22):c.1914G>A (p.Glu638=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689309	NM_007317.3(KIF22):c.1396C>T (p.Arg466Ter)	KIF22 (R398* +1 more)	Single nucleotide variant (nonsense)	Spondyloepimetaphyseal dysplasia with multiple dislocations	GUncertain significance
Select item 2685573	GRCh37/hg19 16p11.2(chr16:29589674-30226930)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685572	GRCh37/hg19 16p11.2(chr16:29517698-30191848)x1	ALDOA, ASPHD1 +24 more	Copy number loss	not provided	GPathogenic
Select item 2685571	GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2685569	GRCh37/hg19 16p11.2(chr16:29383809-29957798)x1	ASPHD1, BOLA2 +14 more	Copy number loss	not provided	GPathogenic
Select item 2685568	GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2684804	GRCh37/hg19 16p11.2(chr16:29654589-30177240)x3	ALDOA, ASPHD1 +24 more	Copy number gain	not provided	GPathogenic

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