ClinVar Miner

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

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Total variants: 106
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HGVS dbSNP
NC_000023.11:g.(?_120431313)_(120469179_?)dup
NC_000023.11:g.(?_120441710)_(120449148_?)del
NM_001122606.1(LAMP2):c.*1924A>T rs761928368
NM_001122606.1(LAMP2):c.*2019A>G rs943561186
NM_001122606.1(LAMP2):c.*2122A>G rs765371462
NM_001122606.1(LAMP2):c.*2124del rs754879365
NM_001122606.1(LAMP2):c.*2333A>G rs778592348
NM_001122606.1(LAMP2):c.*508_*511GTTA[1] rs764018077
NM_001122606.1(LAMP2):c.*838C>A rs1057515737
NM_001122606.1(LAMP2):c.*850T>C rs975386272
NM_001122606.1(LAMP2):c.1094-1025C>T rs1024440041
NM_001122606.1(LAMP2):c.1094-1065A>G rs755434692
NM_001122606.1(LAMP2):c.1094-1506A>T rs1004327482
NM_001122606.1(LAMP2):c.1094-159A>C rs1057515739
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.1094-2717G>A rs1556078130
NM_001122606.1(LAMP2):c.1094-2790G>A rs1029569080
NM_001122606.1(LAMP2):c.1094-2804C>A rs1006753991
NM_001122606.1(LAMP2):c.1094-549AT[8] rs753399289
NM_001122606.1(LAMP2):c.1133T>A (p.Ile378Asn) rs1057515738
NM_002294.3(LAMP2):c.*1413A>G
NM_002294.3(LAMP2):c.*2147T>C
NM_002294.3(LAMP2):c.*238G>A
NM_002294.3(LAMP2):c.*2476C>T
NM_002294.3(LAMP2):c.*2955A>G
NM_002294.3(LAMP2):c.*3263T>C
NM_002294.3(LAMP2):c.*3276C>T
NM_002294.3(LAMP2):c.*3413T>C
NM_002294.3(LAMP2):c.*3488C>T
NM_002294.3(LAMP2):c.*3563T>G
NM_002294.3(LAMP2):c.*4004C>T
NM_002294.3(LAMP2):c.*4006G>T
NM_002294.3(LAMP2):c.*4664A>G
NM_002294.3(LAMP2):c.*4757A>G
NM_002294.3(LAMP2):c.*975A>G
NM_002294.3(LAMP2):c.1078G>A (p.Gly360Arg)
NM_002294.3(LAMP2):c.1094-1G>C
NM_002294.3(LAMP2):c.1123T>C (p.Phe375Leu)
NM_002294.3(LAMP2):c.1127T>C (p.Leu376Pro)
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala)
NM_002294.3(LAMP2):c.205C>T (p.His69Tyr)
NM_002294.3(LAMP2):c.286T>C (p.Phe96Leu)
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515
NM_002294.3(LAMP2):c.380C>T (p.Pro127Leu)
NM_002294.3(LAMP2):c.424G>C (p.Ala142Pro)
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser)
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys)
NM_002294.3(LAMP2):c.571A>G (p.Lys191Glu)
NM_002294.3(LAMP2):c.59T>G (p.Val20Gly)
NM_002294.3(LAMP2):c.629C>A (p.Thr210Lys)
NM_002294.3(LAMP2):c.643A>G (p.Lys215Glu)
NM_002294.3(LAMP2):c.65-6A>G
NM_002294.3(LAMP2):c.704C>T (p.Ala235Val)
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser)
NM_002294.3(LAMP2):c.733C>G (p.Gln245Glu)
NM_002294.3(LAMP2):c.745G>A (p.Ala249Thr)
NM_002294.3(LAMP2):c.80A>G (p.Tyr27Cys)
NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro)
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser) rs397516747
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys) rs397516748
NM_002294.3(LAMP2):c.928+6C>T
NM_002294.3(LAMP2):c.928G>T (p.Val310Phe)
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn)
NM_013995.2(LAMP2):c.-103G>C rs1057515747
NM_013995.2(LAMP2):c.-136C>G
NM_013995.2(LAMP2):c.-154T>C rs999307628
NM_013995.2(LAMP2):c.-168dup rs760941179
NM_013995.2(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315
NM_013995.2(LAMP2):c.1015G>C (p.Val339Leu) rs1602532154
NM_013995.2(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_013995.2(LAMP2):c.1069G>A (p.Val357Met) rs886038907
NM_013995.2(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327
NM_013995.2(LAMP2):c.1189G>A (p.Val397Ile) rs730880488
NM_013995.2(LAMP2):c.1189G>T (p.Val397Leu) rs730880488
NM_013995.2(LAMP2):c.1201A>G (p.Arg401Gly) rs777128122
NM_013995.2(LAMP2):c.188C>T (p.Thr63Ile) rs1358581771
NM_013995.2(LAMP2):c.204C>G (p.Asp68Glu) rs376215728
NM_013995.2(LAMP2):c.232A>G (p.Ile78Val) rs748676358
NM_013995.2(LAMP2):c.23C>T (p.Pro8Leu) rs878854484
NM_013995.2(LAMP2):c.260A>C (p.Lys87Thr) rs1556112678
NM_013995.2(LAMP2):c.263T>C (p.Ile88Thr) rs1569371283
NM_013995.2(LAMP2):c.29C>T (p.Pro10Leu) rs769378984
NM_013995.2(LAMP2):c.30G>A (p.Pro10=) rs11540224
NM_013995.2(LAMP2):c.339C>G (p.Ser113Arg) rs147369153
NM_013995.2(LAMP2):c.416A>T (p.Glu139Val) rs1602536486
NM_013995.2(LAMP2):c.443A>G (p.Asn148Ser) rs766491800
NM_013995.2(LAMP2):c.515T>C (p.Leu172Pro) rs371174243
NM_013995.2(LAMP2):c.566G>A (p.Cys189Tyr) rs750457485
NM_013995.2(LAMP2):c.581C>A (p.Thr194Asn) rs1033442580
NM_013995.2(LAMP2):c.601A>G (p.Ile201Val) rs1362738445
NM_013995.2(LAMP2):c.617C>T (p.Pro206Leu) rs1602535864
NM_013995.2(LAMP2):c.697C>G (p.Leu233Val) rs772577020
NM_013995.2(LAMP2):c.737A>G (p.Asp246Gly) rs730880482
NM_013995.2(LAMP2):c.73C>T (p.Arg25Trp) rs730880478
NM_013995.2(LAMP2):c.773C>T (p.Thr258Ile) rs111703410
NM_013995.2(LAMP2):c.778C>T (p.His260Tyr) rs778577575
NM_013995.2(LAMP2):c.815T>G (p.Leu272Arg) rs1569369217
NM_013995.2(LAMP2):c.887T>G (p.Leu296Arg) rs730880486
NM_013995.2(LAMP2):c.907A>G (p.Met303Val) rs768369360
NM_013995.2(LAMP2):c.928+4A>G rs1602532732
NM_013995.2(LAMP2):c.980G>T (p.Ser327Ile) rs960241982
NM_013995.2(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746

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