ClinVar Miner

List of variants in gene LAMA2 reported as pathogenic for Laminin alpha 2-related dystrophy

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Total variants: 75
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HGVS dbSNP
NC_000006.11:g.(?_129204371)_(129837512_?)del
NC_000006.11:g.(?_129204381)_(129419570_?)del
NC_000006.11:g.(?_129371063)_(129622017_?)dup
NC_000006.11:g.(?_129380919)_(129419570_?)del
NC_000006.11:g.(?_129670423)_(129725124_?)del
NC_000006.11:g.(?_129670433)_(129725114_?)del
NC_000006.11:g.(?_129711182)_(129712718_?)del
NC_000006.11:g.(?_129837315)_(129837512_?)del
NM_000426.3(LAMA2):c.1291A>T (p.Lys431Ter)
NM_000426.3(LAMA2):c.1300C>T (p.Arg434Ter) rs1374568851
NM_000426.3(LAMA2):c.1301del (p.Arg434fs) rs1554230455
NM_000426.3(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126
NM_000426.3(LAMA2):c.1467+1G>A rs1554234161
NM_000426.3(LAMA2):c.1467+1G>T rs1554234161
NM_000426.3(LAMA2):c.1727_1767del (p.Gln576fs)
NM_000426.3(LAMA2):c.1854_1861dup (p.Leu621fs) rs202247791
NM_000426.3(LAMA2):c.2049_2050delAG rs202247790
NM_000426.3(LAMA2):c.2068_2071del (p.Tyr690fs)
NM_000426.3(LAMA2):c.2230C>T (p.Arg744Ter) rs775676341
NM_000426.3(LAMA2):c.253dup (p.Ile85fs) rs1248727589
NM_000426.3(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.3(LAMA2):c.2560C>T (p.Gln854Ter)
NM_000426.3(LAMA2):c.2749+1G>C rs759555791
NM_000426.3(LAMA2):c.283+1G>A rs200288072
NM_000426.3(LAMA2):c.2836C>T (p.Gln946Ter) rs375638381
NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter) rs121913577
NM_000426.3(LAMA2):c.2T>C (p.Met1Thr) rs374403765
NM_000426.3(LAMA2):c.3085C>T (p.Arg1029Ter) rs145420388
NM_000426.3(LAMA2):c.3215del (p.Cys1072fs) rs886041297
NM_000426.3(LAMA2):c.329G>A (p.Trp110Ter) rs1441933780
NM_000426.3(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
NM_000426.3(LAMA2):c.3630del (p.Ile1210fs) rs398123372
NM_000426.3(LAMA2):c.363C>A (p.Tyr121Ter) rs535635043
NM_000426.3(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.3(LAMA2):c.3829C>T (p.Arg1277Ter) rs1554269891
NM_000426.3(LAMA2):c.3955C>T (p.Arg1319Ter) rs1180309541
NM_000426.3(LAMA2):c.396+1G>T rs770617208
NM_000426.3(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373
NM_000426.3(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.3(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373
NM_000426.3(LAMA2):c.4876C>T (p.Gln1626Ter) rs369776766
NM_000426.3(LAMA2):c.5072-5154del rs1554285766
NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter) rs758775001
NM_000426.3(LAMA2):c.523G>T rs863224891
NM_000426.3(LAMA2):c.5259del (p.Lys1753_Val1754insTer) rs1211739649
NM_000426.3(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594
NM_000426.3(LAMA2):c.5290dup (p.Glu1764fs) rs1415944134
NM_000426.3(LAMA2):c.5374G>T (p.Glu1792Ter) rs746201268
NM_000426.3(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942
NM_000426.3(LAMA2):c.5562+5G>C rs771046502
NM_000426.3(LAMA2):c.5853del (p.Ala1952fs) rs1554290311
NM_000426.3(LAMA2):c.5866-2A>G rs1554295204
NM_000426.3(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378
NM_000426.3(LAMA2):c.6207C>A (p.Tyr2069Ter)
NM_000426.3(LAMA2):c.6268+2T>C rs1554297727
NM_000426.3(LAMA2):c.6443del (p.Val2148fs)
NM_000426.3(LAMA2):c.6488del (p.Lys2163fs) rs886039482
NM_000426.3(LAMA2):c.6690C>A (p.Tyr2230Ter)
NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915
NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.3(LAMA2):c.7156-5_7157delAATAGAGinsT rs1554301854
NM_000426.3(LAMA2):c.7181del (p.Thr2394fs)
NM_000426.3(LAMA2):c.7207_7208dup (p.Asp2403fs) rs1554301883
NM_000426.3(LAMA2):c.7277_7278CT[1] (p.Leu2427fs) rs398123385
NM_000426.3(LAMA2):c.7658del (p.Ser2553fs) rs1293303410
NM_000426.3(LAMA2):c.7710_7711insG (p.Pro2571fs) rs1554305937
NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.3(LAMA2):c.8180_8181del (p.Ile2727fs) rs1205783002
NM_000426.3(LAMA2):c.8244+1G>A rs749522728
NM_000426.3(LAMA2):c.8244+3_8244+6delAAGT rs746678525
NM_000426.3(LAMA2):c.828C>G (p.Tyr276Ter) rs1028599119
NM_000426.3(LAMA2):c.8581_8584dup (p.Tyr2862fs)
NM_000426.3(LAMA2):c.8769dup (p.Gln2924fs)
NM_000426.3(LAMA2):c.939_940del (p.Cys314fs) rs1209130981
Single allele

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