ClinVar Miner

List of variants in gene LAMP2 reported as pathogenic

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Total variants: 54
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HGVS dbSNP
LAMP2, 1-BP DEL, 1219A
LAMP2, 1-BP INS, 974A
LAMP2, 2-BP DEL, 1097AA
NC_000023.11:g.(?_120428464)_(120469189_?)del
NC_000023.11:g.(?_120431313)_(120470223_?)del
NM_002294.3(LAMP2):c.1037del (p.Asn346fs)
NM_002294.3(LAMP2):c.1093+1G>A rs727504742
NM_002294.3(LAMP2):c.183+1G>A rs727503120
NM_002294.3(LAMP2):c.235_243delinsGTGG (p.Cys79fs)
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.3(LAMP2):c.294G>A (p.Trp98Ter) rs876657696
NM_002294.3(LAMP2):c.34dup (p.Ser12fs)
NM_002294.3(LAMP2):c.374del (p.Thr125fs)
NM_002294.3(LAMP2):c.64+1G>C
NM_002294.3(LAMP2):c.65-2A>G rs397516743
NM_002294.3(LAMP2):c.763_768delinsTGAAGT (p.Asn255_Pro256delinsTer)
NM_002294.3(LAMP2):c.864+1G>T rs727503119
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_013995.2(LAMP2):c.1013C>G (p.Ser338Ter) rs1060502305
NM_013995.2(LAMP2):c.1020del (p.Gly341fs) rs727504597
NM_013995.2(LAMP2):c.121del (p.Cys41fs) rs727504600
NM_013995.2(LAMP2):c.137G>A (p.Trp46Ter) rs1569371591
NM_013995.2(LAMP2):c.138G>A (p.Trp46Ter) rs1271031981
NM_013995.2(LAMP2):c.14del (p.Arg5fs) rs1183994410
NM_013995.2(LAMP2):c.205_218del (p.His69fs) rs1602540152
NM_013995.2(LAMP2):c.36_42del (p.Gly13fs) rs1436181133
NM_013995.2(LAMP2):c.415_469dup (p.Ser157Ter) rs1569369940
NM_013995.2(LAMP2):c.440T>A (p.Leu147Ter) rs137852527
NM_013995.2(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_013995.2(LAMP2):c.546_548delinsTA (p.Ser183fs) rs1060502302
NM_013995.2(LAMP2):c.579_586del (p.Lys193fs) rs398123685
NM_013995.2(LAMP2):c.584_588dup (p.Val197fs) rs730880492
NM_013995.2(LAMP2):c.64+2T>A rs730880490
NM_013995.2(LAMP2):c.64+4delinsGT rs1556123906
NM_013995.2(LAMP2):c.65-1G>C rs730880496
NM_013995.2(LAMP2):c.651dup (p.Pro218fs) rs730880493
NM_013995.2(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_013995.2(LAMP2):c.718C>T (p.Gln240Ter) rs1556101420
NM_013995.2(LAMP2):c.741+1G>A rs1251075016
NM_013995.2(LAMP2):c.788del (p.Gly263fs) rs1060502303
NM_013995.2(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_013995.2(LAMP2):c.843T>G (p.Tyr281Ter) rs1569369194
NM_013995.2(LAMP2):c.851_852del (p.Phe284fs) rs727504648
NM_013995.2(LAMP2):c.864+1G>A rs727503119
NM_013995.2(LAMP2):c.864+2T>C rs730880485
NM_013995.2(LAMP2):c.864+3_864+6del rs397516751
NM_013995.2(LAMP2):c.864+5G>C rs1352584474
NM_013995.2(LAMP2):c.883dup (p.Tyr295fs) rs1327363415
NM_013995.2(LAMP2):c.929-2A>G rs1556092556
NM_013995.2(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_013995.2(LAMP2):c.962G>A (p.Trp321Ter) rs1060502306
NM_013995.2(LAMP2):c.973dup (p.Leu325fs) rs1556092459
NM_013995.2(LAMP2):c.974del (p.Leu325fs) rs730880498

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