LAMP2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 367735	NM_002294.3(LAMP2):c.*5172A>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease +1 more	GUncertain significance
Select item 367736	NM_002294.3(LAMP2):c.*5048A>T	LAMP2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy +1 more	GBenign/Likely benign
Select item 367737	NM_002294.3(LAMP2):c.*5038A>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease +1 more	GBenign/Likely benign
Select item 367738	NM_002294.3(LAMP2):c.*4963del	LAMP2	Deletion (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 367739	NM_002294.3(LAMP2):c.*4961A>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 367740	NM_002294.3(LAMP2):c.*4858A>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 367741	NM_002294.3(LAMP2):c.*4763A>T	LAMP2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 913669	NM_002294.3(LAMP2):c.*4757A>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease +1 more	GConflicting classifications of pathogenicity
Select item 367742	NM_002294.3(LAMP2):c.*4671C>T	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease +1 more	GBenign/Likely benign
Select item 913670	NM_002294.3(LAMP2):c.*4664A>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GUncertain significance
Select item 367743	NM_002294.3(LAMP2):c.*4579A>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease +1 more	GBenign/Likely benign
Select item 367744	NM_002294.3(LAMP2):c.*4562A>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease +1 more	GBenign/Likely benign
Select item 914064	NM_002294.3(LAMP2):c.*4006G>T	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GUncertain significance
Select item 914065	NM_002294.3(LAMP2):c.*4004C>T	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GUncertain significance
Select item 367745	NM_002294.3(LAMP2):c.*3689T>C	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease +1 more	GUncertain significance
Select item 367746	NM_002294.3(LAMP2):c.*3687T>C	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease +1 more	GConflicting classifications of pathogenicity
Select item 367747	NM_002294.3(LAMP2):c.*3677C>A	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease +1 more	GUncertain significance
Select item 914066	NM_002294.3(LAMP2):c.*3583A>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GBenign
Select item 914067	NM_002294.3(LAMP2):c.*3563T>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GUncertain significance
Select item 914575	NM_002294.3(LAMP2):c.*3494A>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GBenign
Select item 914576	NM_002294.3(LAMP2):c.*3488C>T	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GUncertain significance
Select item 367748	NM_002294.3(LAMP2):c.*3459GTT[3]	LAMP2	Microsatellite (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 914577	NM_002294.3(LAMP2):c.*3459G>T	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease +1 more	GBenign/Likely benign
Select item 914578	NM_002294.3(LAMP2):c.*3452T>C	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GBenign
Select item 914579	NM_002294.3(LAMP2):c.*3413T>C	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GUncertain significance
Select item 367749	NM_002294.3(LAMP2):c.*3347GTTA[1]	LAMP2	Microsatellite (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 914580	NM_002294.3(LAMP2):c.*3276C>T	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GUncertain significance
Select item 914581	NM_002294.3(LAMP2):c.*3263T>C	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GUncertain significance
Select item 367750	NM_002294.3(LAMP2):c.*3249T>C	LAMP2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 367751	NM_002294.3(LAMP2):c.*3248G>A	LAMP2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
Select item 367752	NM_002294.3(LAMP2):c.*3031dup	LAMP2	Duplication (3 prime UTR variant)	Danon disease +2 more	GBenign/Likely benign
Select item 912618	NM_002294.3(LAMP2):c.*2955A>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GUncertain significance
Select item 532015	NC_000023.11:g.(?_120428464)_(120469189_?)del	LAMP2	Deletion	Danon disease	GPathogenic
Select item 228785	NM_001122606.1(LAMP2):c.(?_1094)_(1236_?)del	LAMP2	Deletion	not specified	GUncertain significance
Select item 912619	NM_002294.3(LAMP2):c.*2794T>C	LAMP2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 43957	NM_002294.3(LAMP2):c.*2773A>C	LAMP2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1284840	NM_002294.3(LAMP2):c.*2771A>G	LAMP2 (I390V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1299971	NM_002294.3(LAMP2):c.*2755G>C	LAMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1176953	NM_002294.3(LAMP2):c.*2752T>C	LAMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 43956	NM_002294.3(LAMP2):c.*2746A>G	LAMP2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 367753	NM_002294.3(LAMP2):c.*2736T>A	LAMP2 (I378N)	Single nucleotide variant (missense variant +1 more)	Danon disease +1 more	GUncertain significance
Select item 1284347	NM_002294.3(LAMP2):c.*2678G>A	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 912620	NM_002294.3(LAMP2):c.*2575G>C	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GBenign
Select item 367754	NM_002294.3(LAMP2):c.*2538A>C	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GUncertain significance
Select item 367755	NM_002294.3(LAMP2):c.*2524T>C	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 913720	NM_002294.3(LAMP2):c.*2518A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease	GBenign
Select item 913721	NM_002294.3(LAMP2):c.*2476C>T	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease	GUncertain significance
Select item 367756	NM_002294.3(LAMP2):c.*2460A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 367757	NM_002294.3(LAMP2):c.*2395A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 367758	NM_002294.3(LAMP2):c.*2261A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GBenign/Likely benign
Select item 1342799	NM_002294.3(LAMP2):c.*2213TATATATACACA[1]	LAMP2	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 367759	NM_002294.3(LAMP2):c.*2195T>C	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +2 more	GBenign/Likely benign
Select item 367760	NM_002294.3(LAMP2):c.*2183T>C	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GConflicting classifications of pathogenicity
Select item 367763	NM_002294.3(LAMP2):c.*2162G>A	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 367762	NM_002294.3(LAMP2):c.*2148AT[9]	LAMP2	Microsatellite (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 367761	NM_002294.3(LAMP2):c.*2148AT[8]	LAMP2	Microsatellite (3 prime UTR variant +1 more)	Danon disease +1 more	GUncertain significance
Select item 1345015	NM_002294.3(LAMP2):c.2147_2148insGTATAT	LAMP2	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1325986	NM_002294.3(LAMP2):c.*2136GT[7]	LAMP2	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 367764	NM_002294.3(LAMP2):c.*2148A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GConflicting classifications of pathogenicity
Select item 914113	NM_002294.3(LAMP2):c.*2147T>C	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease	GUncertain significance
Select item 1290327	NM_002294.3(LAMP2):c.1993_2034del	LAMP2	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 367765	NM_002294.3(LAMP2):c.*2005C>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GConflicting classifications of pathogenicity
Select item 1342105	NM_002294.3(LAMP2):c.*1984G>A	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 367766	NM_002294.3(LAMP2):c.*1701dup	LAMP2	Duplication (3 prime UTR variant +1 more)	Danon disease +1 more	GLikely benign
Select item 2661326	NM_002294.3(LAMP2):c.*1673G>T	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 367767	NM_002294.3(LAMP2):c.*1672C>T	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GUncertain significance
Select item 367768	NM_002294.3(LAMP2):c.*1632A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GUncertain significance
Select item 367769	NM_002294.3(LAMP2):c.*1617C>T	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GBenign/Likely benign
Select item 367770	NM_002294.3(LAMP2):c.*1589A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 914114	NM_002294.3(LAMP2):c.*1413A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GConflicting classifications of pathogenicity
Select item 367771	NM_002294.3(LAMP2):c.*1356C>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GConflicting classifications of pathogenicity
Select item 367772	NM_002294.3(LAMP2):c.*1314T>C	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +2 more	GBenign/Likely benign
Select item 914617	NM_002294.3(LAMP2):c.*1243A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GBenign/Likely benign
Select item 367773	NM_002294.3(LAMP2):c.*1191A>T	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GUncertain significance
Select item 367774	NM_002294.3(LAMP2):c.*1096T>C	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy +1 more	GBenign/Likely benign
Select item 367775	NM_002294.3(LAMP2):c.*1071G>T	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GBenign/Likely benign
Select item 914618	NM_002294.3(LAMP2):c.*975A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease	GUncertain significance
Select item 367776	NM_002294.3(LAMP2):c.*853G>A	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 367777	NM_002294.3(LAMP2):c.*721A>C	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 367778	NM_002294.3(LAMP2):c.*692G>A	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 367779	NM_002294.3(LAMP2):c.*653A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 367780	NM_002294.3(LAMP2):c.*586A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GUncertain significance
Select item 367781	NM_002294.3(LAMP2):c.*486A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
Select item 367782	NM_002294.3(LAMP2):c.*477T>C	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GConflicting classifications of pathogenicity
Select item 367783	NM_002294.3(LAMP2):c.*297A>C	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
Select item 912657	NM_002294.3(LAMP2):c.*238G>A	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease	GUncertain significance
Select item 1208755	NM_002294.3(LAMP2):c.*237C>T	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 367784	NM_002294.3(LAMP2):c.*205C>T	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
Select item 367785	NM_002294.3(LAMP2):c.*33A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 179016	NM_002294.3(LAMP2):c.*15T>C	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign/Likely benign
Select item 179651	NM_002294.2(LAMP2):c.(?_929)_(1233_?)del	LAMP2	Deletion	Danon disease	GLikely pathogenic
Select item 2450359	NM_002294.3(LAMP2):c.1227A>G (p.Gln409=)	LAMP2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1943213	NM_002294.3(LAMP2):c.1224G>A (p.Glu408=)	LAMP2	Single nucleotide variant (synonymous variant +1 more)	Danon disease	GLikely benign
Select item 1029436	NM_002294.3(LAMP2):c.1217G>T (p.Gly406Val)	LAMP2 (G406V)	Single nucleotide variant (missense variant +1 more)	Danon disease	GUncertain significance
Select item 3290082	NM_002294.3(LAMP2):c.1214C>A (p.Ala405Asp)	LAMP2 (A405D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 463157	NM_002294.3(LAMP2):c.1213G>A (p.Ala405Thr)	LAMP2 (A405T)	Single nucleotide variant (missense variant +1 more)	Danon disease	GUncertain significance
Select item 179568	NM_002294.3(LAMP2):c.1211A>T (p.His404Leu)	LAMP2 (H404L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1449689	NM_002294.3(LAMP2):c.1205A>G (p.His402Arg)	LAMP2 (H402R)	Single nucleotide variant (missense variant +1 more)	Danon disease	GUncertain significance
Select item 1748376	NM_002294.3(LAMP2):c.1204C>T (p.His402Tyr)	LAMP2 (H402Y)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1041551	NM_002294.3(LAMP2):c.1204C>A (p.His402Asn)	LAMP2 (H402N)	Single nucleotide variant (missense variant +1 more)	Danon disease	GUncertain significance

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