ClinVar Miner

List of variants in gene LAMP2 reported as likely pathogenic

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Total variants: 23
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HGVS dbSNP
NM_001122606.1(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_001122606.1(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_001122606.1(LAMP2):c.669T>G (p.Tyr223Ter)
NM_001122606.1(LAMP2):c.833del (p.Ile279Leufs)
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.2(LAMP2):c.1075C>T (p.Gln359Ter) rs1057517940
NM_002294.2(LAMP2):c.128_129dupAT (p.Ala44Metfs) rs730880344
NM_002294.2(LAMP2):c.183+1G>A rs727503120
NM_002294.2(LAMP2):c.183+5G>A rs730880479
NM_002294.2(LAMP2):c.184-1G>T rs1064796635
NM_002294.2(LAMP2):c.191delT (p.Val64Glufs) rs397516738
NM_002294.2(LAMP2):c.217_218insA (p.Thr73Asnfs) rs397516739
NM_002294.2(LAMP2):c.463delA (p.Ser155Valfs) rs193922649
NM_002294.2(LAMP2):c.659dupC (p.Gly221Trpfs) rs1556101640
NM_002294.2(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_002294.2(LAMP2):c.864+3_864+6delGAGT rs397516751
NM_002294.2(LAMP2):c.865-1G>C rs397516752
NM_002294.2(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.2(LAMP2):c.929-1G>A rs727504262
NM_002294.2(LAMP2):c.999delA (p.Glu334Serfs) rs727504557
NM_002294.2:c.(?_929)_(1233_?)del
NM_002294.2:c.190_191del
NM_013995.2(LAMP2):c.1A>T (p.Met1Leu) rs1556124149

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