ClinVar Miner

List of variants reported as uncertain significance for Danon disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP
NC_000023.10:g.(?_118986730)_(119603030_?)dup
NC_000023.10:g.(?_119575565)_(119583003_?)del
NM_001122606.1(LAMP2):c.1094-1025C>T rs1024440041
NM_001122606.1(LAMP2):c.1094-1065A>G rs755434692
NM_001122606.1(LAMP2):c.1094-1341C>G rs188897063
NM_001122606.1(LAMP2):c.1094-1506A>T rs1004327482
NM_001122606.1(LAMP2):c.1094-159A>C rs1057515739
NM_001122606.1(LAMP2):c.1094-173T>C rs150119198
NM_001122606.1(LAMP2):c.1094-1844G>A rs763861761
NM_001122606.1(LAMP2):c.1094-1976A>C rs887326511
NM_001122606.1(LAMP2):c.1094-2005G>A rs1057515743
NM_001122606.1(LAMP2):c.1094-2044A>G rs1057515744
NM_001122606.1(LAMP2):c.1094-2111A>G rs41312757
NM_001122606.1(LAMP2):c.1094-2220T>C rs750939378
NM_001122606.1(LAMP2):c.1094-2664A>G rs745798436
NM_001122606.1(LAMP2):c.1094-514T>C rs765214315
NM_001122606.1(LAMP2):c.1094-549A>G rs756504749
NM_001122606.1(LAMP2):c.1094-549AT[8] rs753399289
NM_001122606.1(LAMP2):c.1094-692C>G rs200014321
NM_001122606.1(LAMP2):c.1133T>A (p.Ile378Asn) rs1057515738
NM_002294.2(LAMP2):c.*3249T>C rs41300908
NM_002294.2(LAMP2):c.*3351_*3354delGTTA rs764018077
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.*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.-103G>C rs1057515747
NM_002294.2(LAMP2):c.-154T>C rs999307628
NM_002294.2(LAMP2):c.-168dupC rs760941179
NM_002294.2(LAMP2):c.-26_-15dup rs1556124241
NM_002294.2(LAMP2):c.-4G>C rs200297370
NM_002294.2(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315
NM_002294.2(LAMP2):c.1015G>C (p.Val339Leu)
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.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.188C>T (p.Thr63Ile)
NM_002294.2(LAMP2):c.204C>G (p.Asp68Glu) rs376215728
NM_002294.2(LAMP2):c.232A>G (p.Ile78Val)
NM_002294.2(LAMP2):c.23C>T (p.Pro8Leu) rs878854484
NM_002294.2(LAMP2):c.263T>C (p.Ile88Thr) rs1569371283
NM_002294.2(LAMP2):c.29C>T (p.Pro10Leu)
NM_002294.2(LAMP2):c.30G>A (p.Pro10=)
NM_002294.2(LAMP2):c.32G>T (p.Gly11Val) rs3180515
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.416A>T (p.Glu139Val)
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.617C>T (p.Pro206Leu)
NM_002294.2(LAMP2):c.640C>A (p.Pro214Thr)
NM_002294.2(LAMP2):c.697C>G (p.Leu233Val) rs772577020
NM_002294.2(LAMP2):c.737A>G (p.Asp246Gly)
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) rs1569369217
NM_002294.2(LAMP2):c.824A>G (p.Asn275Ser) rs397516747
NM_002294.2(LAMP2):c.928+4A>G
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)
NM_013995.2(LAMP2):c.1201A>G (p.Arg401Gly) rs777128122

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