ClinVar Miner

List of variants in gene LAMP2 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP
NM_001122606.1(LAMP2):c.*192dup rs113549733
NM_001122606.1(LAMP2):c.*620_*622GTT[3] rs199705754
NM_001122606.1(LAMP2):c.1094-1005dup rs373005118
NM_001122606.1(LAMP2):c.1094-2793A>G rs730880126
NM_001122606.1(LAMP2):c.1094-549AT[9] rs753399289
NM_002294.3(LAMP2):c.1068T>C (p.Asn356=)
NM_002294.3(LAMP2):c.1080A>G (p.Gly360=)
NM_002294.3(LAMP2):c.1083G>A (p.Lys361=)
NM_002294.3(LAMP2):c.1093+2469C>A rs770877964
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265
NM_002294.3(LAMP2):c.1093+2524T>C rs1602530731
NM_002294.3(LAMP2):c.1093+9C>T rs371259269
NM_002294.3(LAMP2):c.1094-9C>T
NM_002294.3(LAMP2):c.1114GAC[1] (p.Asp373del) rs730880494
NM_002294.3(LAMP2):c.1116C>T (p.Asp372=) rs749338632
NM_002294.3(LAMP2):c.1134C>T (p.Pro378=)
NM_002294.3(LAMP2):c.1140G>T (p.Ala380=) rs1029569080
NM_002294.3(LAMP2):c.1152C>T (p.Ala384=)
NM_002294.3(LAMP2):c.183+8T>C rs997912625
NM_002294.3(LAMP2):c.184-9T>G rs774218764
NM_002294.3(LAMP2):c.219A>G (p.Thr73=)
NM_002294.3(LAMP2):c.276C>T (p.Phe92=) rs754577706
NM_002294.3(LAMP2):c.327T>C (p.Tyr109=)
NM_002294.3(LAMP2):c.333T>C (p.Ile111=) rs397516742
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.3(LAMP2):c.354C>T (p.Tyr118=) rs1602539967
NM_002294.3(LAMP2):c.426C>T (p.Ala142=)
NM_002294.3(LAMP2):c.429C>T (p.Ile143=) rs1602536478
NM_002294.3(LAMP2):c.42C>G (p.Leu14=) rs727503122
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122
NM_002294.3(LAMP2):c.450T>C (p.Leu150=)
NM_002294.3(LAMP2):c.453T>C (p.Phe151=) rs200348335
NM_002294.3(LAMP2):c.462T>C (p.Asn154=)
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) rs138374063
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile) rs141574558
NM_002294.3(LAMP2):c.546G>T (p.Val182=)
NM_002294.3(LAMP2):c.582T>C (p.Thr194=) rs1602535931
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_002294.3(LAMP2):c.600C>T (p.Thr200=)
NM_002294.3(LAMP2):c.609C>A (p.Thr203=) rs1602535881
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.3(LAMP2):c.6G>A (p.Val2=)
NM_002294.3(LAMP2):c.741+7G>T
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.3(LAMP2):c.768C>T (p.Pro256=)
NM_002294.3(LAMP2):c.807T>C (p.Thr269=) rs1211870519
NM_002294.3(LAMP2):c.865-4del
NM_002294.3(LAMP2):c.865-8del rs746330494
NM_002294.3(LAMP2):c.885T>C (p.Tyr295=)
NM_002294.3(LAMP2):c.90A>G (p.Glu30=) rs1602540965
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002294.3(LAMP2):c.929-9T>C
NM_002294.3(LAMP2):c.960C>T (p.Tyr320=) rs371959861
NM_002294.3(LAMP2):c.966T>C (p.Asp322=)
NM_002294.3(LAMP2):c.969C>A (p.Ala323=) rs1602532246
NM_013995.2(LAMP2):c.1142T>C (p.Val381Ala) rs1301008847
NM_013995.2(LAMP2):c.150C>T (p.Phe50=) rs1057521701
NM_013995.2(LAMP2):c.156_157delinsTT (p.Arg53Cys) rs1556114013
NM_013995.2(LAMP2):c.264A>T (p.Ile88=) rs779524035
NM_013995.2(LAMP2):c.461A>G (p.Asn154Ser) rs773525538
NM_013995.2(LAMP2):c.519A>G (p.Val173=) rs1060504543
NM_013995.2(LAMP2):c.640C>A (p.Pro214Thr) rs776101722
NM_013995.2(LAMP2):c.959A>G (p.Tyr320Cys) rs1292531971
NM_013995.2(LAMP2):c.972C>G (p.Pro324=) rs1229203142

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