ClinVar for Gene (Select 55755) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235013	NM_018249.6(CDK5RAP2):c.866_867dup (p.Glu290fs)	CDK5RAP2 (E290fs)	Duplication (frameshift variant +1 more)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
Select item 3233369	NM_018249.6(CDK5RAP2):c.1865C>G (p.Ser622Ter)	CDK5RAP2 (S621* +1 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
Select item 3141590	NM_018249.6(CDK5RAP2):c.840G>T (p.Glu280Asp)	CDK5RAP2 (E280D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141589	NM_018249.6(CDK5RAP2):c.731A>G (p.Lys244Arg)	CDK5RAP2 (K244R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141588	NM_018249.6(CDK5RAP2):c.581G>A (p.Arg194His)	CDK5RAP2 (R194H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141587	NM_018249.6(CDK5RAP2):c.5170G>A (p.Gly1724Ser)	CDK5RAP2 (G1494S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141586	NM_018249.6(CDK5RAP2):c.5059C>G (p.Leu1687Val)	CDK5RAP2 (L1655V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141585	NM_018249.6(CDK5RAP2):c.4964A>G (p.Asp1655Gly)	CDK5RAP2 (D1425G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141584	NM_018249.6(CDK5RAP2):c.4930A>C (p.Ile1644Leu)	CDK5RAP2 (I1414L +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3141583	NM_018249.6(CDK5RAP2):c.4460A>C (p.Lys1487Thr)	CDK5RAP2 (K1257T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141582	NM_018249.6(CDK5RAP2):c.3577A>G (p.Met1193Val)	CDK5RAP2 (M1192V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141580	NM_018249.6(CDK5RAP2):c.2266A>G (p.Ile756Val)	CDK5RAP2 (I724V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3141579	NM_018249.6(CDK5RAP2):c.2171T>C (p.Leu724Pro)	CDK5RAP2 (L723P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3141578	NM_018249.6(CDK5RAP2):c.1901G>A (p.Ser634Asn)	CDK5RAP2 (S633N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141577	NM_018249.6(CDK5RAP2):c.1769T>C (p.Leu590Pro)	CDK5RAP2 (L590P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141576	NM_018249.6(CDK5RAP2):c.1613C>T (p.Thr538Ile)	CDK5RAP2 (T538I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141575	NM_018249.6(CDK5RAP2):c.1546C>A (p.Leu516Ile)	CDK5RAP2 (L516I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141574	NM_018249.6(CDK5RAP2):c.1476G>T (p.Leu492Phe)	CDK5RAP2 (L492F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141573	NM_018249.6(CDK5RAP2):c.1310G>A (p.Arg437His)	CDK5RAP2 (R437H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3141572	NM_018249.6(CDK5RAP2):c.1121C>T (p.Ser374Leu)	CDK5RAP2 (S374L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3069125	NM_018249.6(CDK5RAP2):c.1095G>A (p.Gly365=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3069124	NM_018249.6(CDK5RAP2):c.4726+10C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3064977	NM_018249.6(CDK5RAP2):c.2107-20C>G	CDK5RAP2	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 3, primary, autosomal recessive	GLikely benign
Select item 3064692	NM_018249.6(CDK5RAP2):c.2113G>A (p.Ala705Thr)	CDK5RAP2 (A704T +1 more)	Single nucleotide variant (missense variant +2 more)	Microcephaly 3, primary, autosomal recessive	GUncertain significance
Select item 3064149	NM_018249.6(CDK5RAP2):c.5579T>A (p.Leu1860Ter)	CDK5RAP2 (L1630* +5 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
Select item 3064144	NM_018249.6(CDK5RAP2):c.3851T>A (p.Leu1284Ter)	CDK5RAP2 (L1054* +4 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
Select item 3063572	NM_018249.6(CDK5RAP2):c.217_220del (p.Glu73fs)	CDK5RAP2 (E73fs)	Microsatellite (frameshift variant +1 more)	Microcephaly 3, primary, autosomal recessive	GPathogenic
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3061678	NM_018249.6(CDK5RAP2):c.3546C>T (p.His1182=)	CDK5RAP2	Single nucleotide variant (non-coding transcript variant +1 more)	CDK5RAP2-related condition	GLikely benign
Select item 3052039	NM_018249.6(CDK5RAP2):c.1899A>C (p.Leu633=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	CDK5RAP2-related condition	GLikely benign
Select item 3036622	NM_018249.6(CDK5RAP2):c.3192A>G (p.Ser1064=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	CDK5RAP2-related condition	GLikely benign
Select item 3031655	NM_018249.6(CDK5RAP2):c.4761T>C (p.Pro1587=)	CDK5RAP2	Single nucleotide variant (non-coding transcript variant +2 more)	CDK5RAP2-related condition	GLikely benign
Select item 3030676	NM_018249.6(CDK5RAP2):c.1779A>G (p.Gln593=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	CDK5RAP2-related condition	GLikely benign
Select item 3025141	NM_018249.6(CDK5RAP2):c.4200G>A (p.Gln1400=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023282	NM_018249.6(CDK5RAP2):c.3753G>A (p.Arg1251=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3019481	NM_018249.6(CDK5RAP2):c.307-4G>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019088	NM_018249.6(CDK5RAP2):c.2886G>A (p.Thr962=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018917	NM_018249.6(CDK5RAP2):c.3249T>A (p.Ser1083Arg)	CDK5RAP2 (S1051R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3016073	NM_018249.6(CDK5RAP2):c.4608G>T (p.Val1536=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015600	NM_018249.6(CDK5RAP2):c.2648T>G (p.Leu883Arg)	CDK5RAP2 (L851R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3014614	NM_018249.6(CDK5RAP2):c.3901C>T (p.Gln1301Ter)	CDK5RAP2 (Q1071* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3006817	NM_018249.6(CDK5RAP2):c.2457_2466del (p.Asp820fs)	CDK5RAP2 (D787fs +3 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 3006411	NM_018249.6(CDK5RAP2):c.5091C>T (p.Cys1697=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999912	NM_018249.6(CDK5RAP2):c.5364G>A (p.Leu1788=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997373	NM_018249.6(CDK5RAP2):c.1292A>G (p.Lys431Arg)	CDK5RAP2 (K431R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993066	NM_018249.6(CDK5RAP2):c.546T>C (p.Phe182=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991284	NM_018249.6(CDK5RAP2):c.1668C>T (p.Val556=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990889	NM_018249.6(CDK5RAP2):c.4273C>A (p.Arg1425=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990573	NM_018249.6(CDK5RAP2):c.4004+12A>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988692	NM_018249.6(CDK5RAP2):c.4727-8G>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987962	NM_018249.6(CDK5RAP2):c.1312-6T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987459	NM_018249.6(CDK5RAP2):c.1727+18G>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987197	NM_018249.6(CDK5RAP2):c.3867T>C (p.Asp1289=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986865	NM_018249.6(CDK5RAP2):c.4177+9A>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985908	NM_018249.6(CDK5RAP2):c.2992G>A (p.Gly998Arg)	CDK5RAP2 (G768R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2985437	NM_018249.6(CDK5RAP2):c.4131T>C (p.Asp1377=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984552	NM_018249.6(CDK5RAP2):c.4415-17C>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984366	NM_018249.6(CDK5RAP2):c.5452-11C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984009	NM_018249.6(CDK5RAP2):c.2787C>T (p.Thr929=)	CDK5RAP2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2983594	NM_018249.6(CDK5RAP2):c.1768C>T (p.Leu590=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980776	NM_018249.6(CDK5RAP2):c.825+17T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979414	NM_018249.6(CDK5RAP2):c.2561A>C (p.Glu854Ala)	CDK5RAP2 (E853A +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2975508	NM_018249.6(CDK5RAP2):c.5622G>A (p.Leu1874=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974758	NM_018249.6(CDK5RAP2):c.2301C>T (p.Cys767=)	CDK5RAP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2971130	NM_018249.6(CDK5RAP2):c.2102C>T (p.Thr701Ile)	CDK5RAP2 (T700I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969652	NM_018249.6(CDK5RAP2):c.1846C>T (p.Arg616Trp)	CDK5RAP2 (R616W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2965450	NM_018249.6(CDK5RAP2):c.5553C>T (p.Arg1851=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964632	NM_018249.6(CDK5RAP2):c.2964G>A (p.Lys988=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962635	NM_018249.6(CDK5RAP2):c.1097C>A (p.Ser366Tyr)	CDK5RAP2 (S366Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2962245	NM_018249.6(CDK5RAP2):c.508-8G>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960923	NM_018249.6(CDK5RAP2):c.3956-14A>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959833	NM_018249.6(CDK5RAP2):c.1968+16T>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959251	NM_018249.6(CDK5RAP2):c.880-14C>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959183	NM_018249.6(CDK5RAP2):c.3288G>A (p.Gly1096=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959106	NM_018249.6(CDK5RAP2):c.1727+7G>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958734	NM_018249.6(CDK5RAP2):c.1093-15T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958645	NM_018249.6(CDK5RAP2):c.5308-11C>T	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2918022	NM_018249.6(CDK5RAP2):c.2739C>T (p.His913=)	CDK5RAP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2909514	NM_018249.6(CDK5RAP2):c.882A>T (p.Ala294=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2908403	NM_018249.6(CDK5RAP2):c.59+9G>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907718	NM_018249.6(CDK5RAP2):c.1021A>G (p.Ile341Val)	CDK5RAP2 (I341V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2905681	NM_018249.6(CDK5RAP2):c.3984C>T (p.Thr1328=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905371	NM_018249.6(CDK5RAP2):c.4587C>T (p.Ser1529=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897892	NM_018249.6(CDK5RAP2):c.1839C>T (p.Ser613=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	CDK5RAP2-related condition +1 more	GLikely benign
Select item 2896722	NM_018249.6(CDK5RAP2):c.1924C>T (p.Arg642Trp)	CDK5RAP2 (R642W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894709	NM_018249.6(CDK5RAP2):c.1146G>A (p.Ala382=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893051	NM_018249.6(CDK5RAP2):c.1362G>A (p.Glu454=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2891300	NM_018249.6(CDK5RAP2):c.518C>T (p.Ala173Val)	CDK5RAP2 (A173V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2889348	NM_018249.6(CDK5RAP2):c.3006C>T (p.Pro1002=)	CDK5RAP2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2888422	NM_018249.6(CDK5RAP2):c.5177A>G (p.His1726Arg)	CDK5RAP2 (H1694R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2883528	NM_018249.6(CDK5RAP2):c.1922A>G (p.Asn641Ser)	CDK5RAP2 (N640S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2883484	NM_018249.6(CDK5RAP2):c.3934T>C (p.Leu1312=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879263	NM_018249.6(CDK5RAP2):c.1858+18T>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878729	NM_018249.6(CDK5RAP2):c.5566A>G (p.Ile1856Val)	CDK5RAP2 (I1824V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2875895	NM_018249.6(CDK5RAP2):c.2634G>A (p.Thr878=)	CDK5RAP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2871866	NM_018249.6(CDK5RAP2):c.4004+11A>C	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871072	NM_018249.6(CDK5RAP2):c.4177+11C>A	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867968	NM_018249.6(CDK5RAP2):c.1858+20T>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863469	NM_018249.6(CDK5RAP2):c.3531G>A (p.Val1177=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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