ClinVar for Gene (Select 726) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302310	NM_006189.1(OMP):c.116G>A (p.Arg39His)	CAPN5, OMP (R39H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302309	NM_006189.1(OMP):c.427G>A (p.Val143Ile)	CAPN5, OMP (V143I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3263227	NM_004055.5(CAPN5):c.1697G>C (p.Gly566Ala)	CAPN5 (G566A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263226	NM_004055.5(CAPN5):c.1745G>C (p.Trp582Ser)	CAPN5 (W582S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263225	NM_004055.5(CAPN5):c.37T>C (p.Tyr13His)	CAPN5 (Y13H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263224	NM_004055.5(CAPN5):c.806T>C (p.Leu269Pro)	CAPN5 (L269P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263223	NM_004055.5(CAPN5):c.1363C>G (p.Arg455Gly)	CAPN5 (R455G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263222	NM_004055.5(CAPN5):c.1913T>C (p.Met638Thr)	CAPN5 (M638T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3204316	NM_006189.1(OMP):c.85G>A (p.Val29Met)	CAPN5, OMP (V29M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3204314	NM_006189.1(OMP):c.77G>T (p.Arg26Leu)	CAPN5, OMP (R26L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204313	NM_006189.1(OMP):c.472G>A (p.Val158Met)	CAPN5, OMP (V158M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204312	NM_006189.1(OMP):c.322C>T (p.Arg108Cys)	CAPN5, OMP (R108C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204311	NM_006189.1(OMP):c.258C>G (p.Asn86Lys)	CAPN5, OMP (N86K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204308	NM_006189.1(OMP):c.199C>T (p.Arg67Cys)	CAPN5, OMP (R67C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204307	NM_006189.1(OMP):c.115C>T (p.Arg39Cys)	CAPN5, OMP (R39C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204306	NM_006189.1(OMP):c.103C>T (p.Arg35Cys)	CAPN5, OMP (R35C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137169	NM_004055.5(CAPN5):c.617A>G (p.Asn206Ser)	CAPN5 (N246S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3137168	NM_004055.5(CAPN5):c.569C>T (p.Thr190Met)	CAPN5 (T146M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137166	NM_004055.5(CAPN5):c.28G>T (p.Asp10Tyr)	CAPN5 (D10Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137165	NM_004055.5(CAPN5):c.1885G>A (p.Val629Met)	CAPN5 (V629M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137164	NM_004055.5(CAPN5):c.1837C>G (p.Arg613Gly)	CAPN5 (R569G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137162	NM_004055.5(CAPN5):c.1004C>T (p.Thr335Met)	CAPN5 (T291M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044061	NM_004055.5(CAPN5):c.1743C>T (p.Val581=)	CAPN5	Single nucleotide variant (synonymous variant)	CAPN5-related disorder	GLikely benign
Select item 3030267	NM_004055.5(CAPN5):c.649C>A (p.Arg217Ser)	CAPN5 (R173S +2 more)	Single nucleotide variant (missense variant)	CAPN5-related disorder	GUncertain significance
Select item 3026411	NM_006189.1(OMP):c.78G>A (p.Arg26=)	OMP, CAPN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018006	NM_004055.5(CAPN5):c.142G>A (p.Ala48Thr)	CAPN5 (A48T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016430	NM_004055.5(CAPN5):c.414C>T (p.Asp138=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3012453	NM_004055.5(CAPN5):c.107A>G (p.Asp36Gly)	CAPN5 (D36G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010737	NM_004055.5(CAPN5):c.1240C>T (p.Arg414Cys)	CAPN5 (R370C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009663	NM_004055.5(CAPN5):c.776T>C (p.Val259Ala)	CAPN5 (V259A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009430	NM_004055.5(CAPN5):c.1769A>T (p.Glu590Val)	CAPN5 (E546V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009021	NM_004055.5(CAPN5):c.416G>A (p.Arg139Gln)	CAPN5 (R139Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003530	NM_004055.5(CAPN5):c.1321A>G (p.Ser441Gly)	CAPN5 (S441G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996904	NM_004055.5(CAPN5):c.971+13G>A	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995522	NM_004055.5(CAPN5):c.160C>T (p.Pro54Ser)	CAPN5 (P54S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994396	NM_004055.5(CAPN5):c.129C>T (p.Gly43=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2993378	NM_004055.5(CAPN5):c.1741-5C>T	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991376	NM_004055.5(CAPN5):c.734C>T (p.Ala245Val)	CAPN5 (A245V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986688	NM_004055.5(CAPN5):c.553G>A (p.Ala185Thr)	CAPN5 (A141T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979713	NM_004055.5(CAPN5):c.1272T>G (p.Ile424Met)	CAPN5 (I380M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979526	NM_004055.5(CAPN5):c.166-5C>T	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971577	NM_004055.5(CAPN5):c.1071C>T (p.Ala357=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969557	NM_004055.5(CAPN5):c.1741-7T>C	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966004	NM_004055.5(CAPN5):c.318G>C (p.Glu106Asp)	CAPN5 (E106D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964389	NM_004055.5(CAPN5):c.403G>C (p.Val135Leu)	CAPN5 (V135L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962017	NM_004055.5(CAPN5):c.1231C>T (p.Arg411Trp)	CAPN5 (R411W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955204	NM_004055.5(CAPN5):c.1401C>T (p.Arg467=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919523	NM_004055.5(CAPN5):c.89C>T (p.Pro30Leu)	CAPN5 (P30L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915644	NM_004055.5(CAPN5):c.1072C>A (p.Arg358=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901828	NM_004055.5(CAPN5):c.1518C>T (p.Thr506=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881674	NM_004055.5(CAPN5):c.1168_1194dup (p.Glu398_Asp399insTyrIlePheGluValLysLysProGlu)	CAPN5	Duplication (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2881289	NM_004055.5(CAPN5):c.1896C>T (p.Leu632=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878598	NM_004055.5(CAPN5):c.1603+10C>G	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877796	NM_004055.5(CAPN5):c.681C>T (p.Leu227=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875885	NM_004055.5(CAPN5):c.700-15T>G	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872728	NM_004055.5(CAPN5):c.592G>C (p.Asp198His)	CAPN5 (D198H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871076	NM_004055.5(CAPN5):c.1304G>T (p.Arg435Leu)	CAPN5 (R391L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864544	NM_004055.5(CAPN5):c.1168-9C>T	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841418	NM_004055.5(CAPN5):c.894-10G>A	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840630	NM_004055.5(CAPN5):c.1203C>A (p.Val401=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839003	NM_004055.5(CAPN5):c.525G>C (p.Gln175His)	CAPN5 (Q175H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836746	NM_004055.5(CAPN5):c.572G>T (p.Gly191Val)	CAPN5 (G147V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835620	NM_004055.5(CAPN5):c.195G>A (p.Val65=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834879	NM_004055.5(CAPN5):c.209C>T (p.Ser70Phe)	CAPN5 (S110F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829200	NM_004055.5(CAPN5):c.1579G>C (p.Ala527Pro)	CAPN5 (A483P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826552	NM_004055.5(CAPN5):c.76C>T (p.Leu26Phe)	CAPN5 (L26F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815779	NM_004055.5(CAPN5):c.570G>T (p.Thr190=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811303	NM_004055.5(CAPN5):c.686G>C (p.Ser229Thr)	CAPN5 (S185T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797234	NM_004055.5(CAPN5):c.515G>T (p.Gly172Val)	CAPN5 (G212V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796272	NM_004055.5(CAPN5):c.1089G>T (p.Trp363Cys)	CAPN5 (W363C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788624	NM_004055.5(CAPN5):c.468T>C (p.Asn156=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782873	NM_004055.5(CAPN5):c.500A>G (p.Tyr167Cys)	CAPN5 (Y123C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776715	NM_004055.5(CAPN5):c.1354A>G (p.Ile452Val)	CAPN5 (I408V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776693	NM_004055.5(CAPN5):c.972-20C>T	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764111	NM_004055.5(CAPN5):c.1622TCA[1] (p.Ile542del)	CAPN5 (I498del +2 more)	Microsatellite (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2754442	NM_004055.5(CAPN5):c.91dup (p.Leu31fs)	CAPN5 (L31fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2720548	NM_004055.5(CAPN5):c.57dup (p.Cys20fs)	CAPN5 (C20fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2712139	NM_004055.5(CAPN5):c.1301A>G (p.Asn434Ser)	CAPN5 (N434S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709082	NM_004055.5(CAPN5):c.1138C>T (p.His380Tyr)	CAPN5 (H380Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707635	NM_004055.5(CAPN5):c.507-16C>G	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695955	NM_004055.5(CAPN5):c.1489G>C (p.Glu497Gln)	CAPN5 (E537Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694200	NM_004055.5(CAPN5):c.1290+16T>A	CAPN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2642176	NM_004055.5(CAPN5):c.165+2904C>T	CAPN5 (S60L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2628048	NM_004055.5(CAPN5):c.728G>A (p.Arg243His)	CAPN5 (R199H +2 more)	Single nucleotide variant (missense variant)	Occult macular dystrophy	GUncertain significance
Select item 2613975	NM_004055.5(CAPN5):c.1183A>G (p.Lys395Glu)	CAPN5 (K395E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611846	NM_004055.5(CAPN5):c.1652C>T (p.Ser551Leu)	CAPN5 (S551L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2605944	NM_004055.5(CAPN5):c.1676C>T (p.Thr559Ile)	CAPN5 (T559I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552868	NM_004055.5(CAPN5):c.130A>C (p.Thr44Pro)	CAPN5 (T44P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551757	NM_006189.1(OMP):c.289C>T (p.Arg97Cys)	CAPN5, OMP (R97C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543884	NM_006189.1(OMP):c.194T>C (p.Phe65Ser)	CAPN5, OMP (F65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536937	NM_004055.5(CAPN5):c.1056G>C (p.Lys352Asn)	CAPN5 (K352N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493740	NM_006189.1(OMP):c.196G>A (p.Glu66Lys)	CAPN5, OMP (E66K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487824	NM_004055.5(CAPN5):c.103A>G (p.Thr35Ala)	CAPN5 (T35A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487009	NM_004055.5(CAPN5):c.181C>G (p.Pro61Ala)	CAPN5 (P61A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484996	NM_004055.5(CAPN5):c.1166A>G (p.Gln389Arg)	CAPN5 (Q389R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481367	NM_004055.5(CAPN5):c.1090A>T (p.Thr364Ser)	CAPN5 (T364S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439751	NM_004055.5(CAPN5):c.1589_1592delinsGGTGAG (p.Lys530_Asp531delinsArgTer)	CAPN5	Indel (nonsense)	Proliferative vitreoretinopathy	GUncertain significance
Select item 2414736	NM_004055.5(CAPN5):c.619G>A (p.Asp207Asn)	CAPN5 (D207N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2402872	NM_006189.1(OMP):c.271C>T (p.Leu91Phe)	CAPN5, OMP (L91F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358676	NM_006189.1(OMP):c.46G>C (p.Val16Leu)	CAPN5, OMP (V16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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