ClinVar Miner

List of variants in gene LAMP2 reported as uncertain significance for Danon disease

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Total variants: 61
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HGVS dbSNP
NC_000023.11:g.(?_120441710)_(120449148_?)del
NM_002294.2(LAMP2):c.*1191A>T rs1004327482
NM_002294.2(LAMP2):c.*1356C>G rs188897063
NM_002294.2(LAMP2):c.*1632A>G rs755434692
NM_002294.2(LAMP2):c.*1672C>T rs1024440041
NM_002294.2(LAMP2):c.*2005C>G rs200014321
NM_002294.2(LAMP2):c.*2148A>G rs756504749
NM_002294.2(LAMP2):c.*2160_*2161dupAT rs753399289
NM_002294.2(LAMP2):c.*2183T>C rs765214315
NM_002294.2(LAMP2):c.*2524T>C rs150119198
NM_002294.2(LAMP2):c.*2538A>C rs1057515739
NM_002294.2(LAMP2):c.*2736T>A rs1057515738
NM_002294.2(LAMP2):c.*3249T>C rs41300908
NM_002294.2(LAMP2):c.*3351_*3354delGTTA rs764018077
NM_002294.2(LAMP2):c.*33A>G rs745798436
NM_002294.2(LAMP2):c.*3677C>A rs1057515737
NM_002294.2(LAMP2):c.*3687T>C rs185627568
NM_002294.2(LAMP2):c.*3689T>C rs975386272
NM_002294.2(LAMP2):c.*4763A>T rs761928368
NM_002294.2(LAMP2):c.*477T>C rs750939378
NM_002294.2(LAMP2):c.*4858A>G rs943561186
NM_002294.2(LAMP2):c.*4961A>G rs765371462
NM_002294.2(LAMP2):c.*4963delG rs754879365
NM_002294.2(LAMP2):c.*5172A>G rs778592348
NM_002294.2(LAMP2):c.*586A>G rs41312757
NM_002294.2(LAMP2):c.*653A>G rs1057515744
NM_002294.2(LAMP2):c.*692G>A rs1057515743
NM_002294.2(LAMP2):c.*721A>C rs887326511
NM_002294.2(LAMP2):c.*853G>A rs763861761
NM_002294.2(LAMP2):c.-103G>C rs1057515747
NM_002294.2(LAMP2):c.-154T>C rs999307628
NM_002294.2(LAMP2):c.-168dupC rs760941179
NM_002294.2(LAMP2):c.-4G>C rs200297370
NM_002294.2(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_002294.2(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327
NM_002294.2(LAMP2):c.1093+2544A>G rs777128122
NM_002294.2(LAMP2):c.1126C>A (p.Leu376Ile)
NM_002294.2(LAMP2):c.1140G>A (p.Ala380=) rs1029569080
NM_002294.2(LAMP2):c.1142T>C (p.Val381Ala) rs139633545
NM_002294.2(LAMP2):c.1213G>A (p.Ala405Thr) rs1556078130
NM_002294.2(LAMP2):c.157C>T (p.Arg53Cys) rs752321157
NM_002294.2(LAMP2):c.204C>G (p.Asp68Glu) rs376215728
NM_002294.2(LAMP2):c.23C>T (p.Pro8Leu) rs878854484
NM_002294.2(LAMP2):c.263T>C (p.Ile88Thr)
NM_002294.2(LAMP2):c.339C>G (p.Ser113Arg) rs147369153
NM_002294.2(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.2(LAMP2):c.443A>G (p.Asn148Ser)
NM_002294.2(LAMP2):c.472A>G (p.Thr158Ala) rs138374063
NM_002294.2(LAMP2):c.566G>A (p.Cys189Tyr) rs750457485
NM_002294.2(LAMP2):c.581C>A (p.Thr194Asn)
NM_002294.2(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_002294.2(LAMP2):c.697C>G (p.Leu233Val) rs772577020
NM_002294.2(LAMP2):c.73C>T (p.Arg25Trp) rs730880478
NM_002294.2(LAMP2):c.773C>T (p.Thr258Ile) rs111703410
NM_002294.2(LAMP2):c.778C>T (p.His260Tyr) rs778577575
NM_002294.2(LAMP2):c.815T>G (p.Leu272Arg)
NM_002294.2(LAMP2):c.824A>G (p.Asn275Ser) rs397516747
NM_002294.2(LAMP2):c.980G>T (p.Ser327Ile)
NM_002294.2(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
NM_013995.2(LAMP2):c.1189G>A (p.Val397Ile) rs730880488
NM_013995.2(LAMP2):c.1189G>T (p.Val397Leu)

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