ClinVar Miner

List of variants in gene LAMA2 reported as uncertain significance for Congenital muscular dystrophy due to partial LAMA2 deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 209
Download table as spreadsheet
HGVS dbSNP
NM_000426.3(LAMA2):c.*46T>C rs376934472
NM_000426.3(LAMA2):c.-103C>T rs886061036
NM_000426.3(LAMA2):c.1084A>T (p.Arg362Ter) rs191912891
NM_000426.3(LAMA2):c.1085G>T (p.Arg362Ile) rs182958473
NM_000426.3(LAMA2):c.1169G>C (p.Cys390Ser) rs886061045
NM_000426.3(LAMA2):c.1308T>G (p.Gly436=) rs41285286
NM_000426.3(LAMA2):c.1373G>A (p.Arg458Lys) rs140604077
NM_000426.3(LAMA2):c.1391C>T (p.Pro464Leu)
NM_000426.3(LAMA2):c.1467+12A>G rs200224891
NM_000426.3(LAMA2):c.1467+1G>A rs1554234161
NM_000426.3(LAMA2):c.1506C>A (p.Ser502=) rs560445624
NM_000426.3(LAMA2):c.1550A>T (p.Glu517Val) rs372358704
NM_000426.3(LAMA2):c.1558T>C (p.Cys520Arg) rs886061046
NM_000426.3(LAMA2):c.1562C>T (p.Ser521Leu) rs369760070
NM_000426.3(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186
NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923
NM_000426.3(LAMA2):c.1650C>T (p.Gly550=) rs899353
NM_000426.3(LAMA2):c.1715C>T (p.Ala572Val) rs149811988
NM_000426.3(LAMA2):c.1716G>C (p.Ala572=) rs758682648
NM_000426.3(LAMA2):c.1782+10C>T rs200030296
NM_000426.3(LAMA2):c.1782+14T>C rs191215452
NM_000426.3(LAMA2):c.194T>C (p.Met65Thr) rs886061041
NM_000426.3(LAMA2):c.2097-3T>C rs886061047
NM_000426.3(LAMA2):c.2115T>G (p.Leu705=) rs149753273
NM_000426.3(LAMA2):c.2149A>G (p.Ile717Val) rs369049149
NM_000426.3(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605
NM_000426.3(LAMA2):c.2288C>T (p.Ala763Val) rs141521127
NM_000426.3(LAMA2):c.2323-7T>G rs762740616
NM_000426.3(LAMA2):c.237G>A (p.Arg79=) rs201402165
NM_000426.3(LAMA2):c.2427T>C (p.Cys809=) rs778050587
NM_000426.3(LAMA2):c.2462C>T (p.Thr821Met) rs117422805
NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866
NM_000426.3(LAMA2):c.2527C>T (p.Arg843Cys) rs769493998
NM_000426.3(LAMA2):c.255C>T (p.Ile85=) rs142083777
NM_000426.3(LAMA2):c.2686C>T (p.Arg896Trp) rs764053957
NM_000426.3(LAMA2):c.2714A>G (p.Tyr905Cys) rs886061048
NM_000426.3(LAMA2):c.2736G>A (p.Ala912=) rs142671449
NM_000426.3(LAMA2):c.2831A>G (p.Gln944Arg) rs141920360
NM_000426.3(LAMA2):c.2856+13G>A rs149487202
NM_000426.3(LAMA2):c.2857-13C>T rs201188972
NM_000426.3(LAMA2):c.2932G>A (p.Asp978Asn) rs202050052
NM_000426.3(LAMA2):c.3004G>A (p.Gly1002Ser) rs200953311
NM_000426.3(LAMA2):c.3086G>A (p.Arg1029Gln) rs149993931
NM_000426.3(LAMA2):c.30T>G (p.Leu10=) rs886061038
NM_000426.3(LAMA2):c.3304C>T (p.Arg1102Cys) rs755313913
NM_000426.3(LAMA2):c.3429C>A (p.Ile1143=) rs200646230
NM_000426.3(LAMA2):c.3461G>T (p.Gly1154Val) rs922954882
NM_000426.3(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698
NM_000426.3(LAMA2):c.3555+10G>A rs767221324
NM_000426.3(LAMA2):c.3585A>G (p.Leu1195=) rs780444488
NM_000426.3(LAMA2):c.3597T>C (p.Asp1199=) rs199904029
NM_000426.3(LAMA2):c.3666C>A (p.Asp1222Glu) rs373992160
NM_000426.3(LAMA2):c.4010A>G (p.His1337Arg) rs139739075
NM_000426.3(LAMA2):c.409G>A (p.Ala137Thr) rs368349321
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000426.3(LAMA2):c.4157A>T (p.Tyr1386Phe) rs560139751
NM_000426.3(LAMA2):c.4176+9C>T rs117116822
NM_000426.3(LAMA2):c.4205G>A (p.Arg1402His) rs144830879
NM_000426.3(LAMA2):c.4222C>G (p.Arg1408Gly) rs780127363
NM_000426.3(LAMA2):c.4436+8T>C rs192650285
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.4620C>A (p.Asp1540Glu) rs755373290
NM_000426.3(LAMA2):c.463G>T (p.Glu155Ter) rs756045943
NM_000426.3(LAMA2):c.4675G>A (p.Gly1559Ser) rs377630412
NM_000426.3(LAMA2):c.4697G>A (p.Arg1566His) rs574923739
NM_000426.3(LAMA2):c.4749C>T (p.Leu1583=) rs754850670
NM_000426.3(LAMA2):c.4772A>G (p.Gln1591Arg) rs143986011
NM_000426.3(LAMA2):c.4790A>T (p.Asn1597Ile) rs566008145
NM_000426.3(LAMA2):c.4909G>A (p.Glu1637Lys) rs138303386
NM_000426.3(LAMA2):c.4926A>G (p.Thr1642=) rs62421010
NM_000426.3(LAMA2):c.4944C>T (p.Asn1648=) rs111632017
NM_000426.3(LAMA2):c.4959+6G>T rs148060790
NM_000426.3(LAMA2):c.4993G>A (p.Gly1665Arg) rs373997222
NM_000426.3(LAMA2):c.5072-10C>A rs552989582
NM_000426.3(LAMA2):c.5072-3C>A rs759155854
NM_000426.3(LAMA2):c.5158G>C (p.Glu1720Gln) rs760572086
NM_000426.3(LAMA2):c.5179G>C (p.Glu1727Gln) rs374201203
NM_000426.3(LAMA2):c.5360G>C (p.Trp1787Ser) rs747621078
NM_000426.3(LAMA2):c.5446-14A>T rs886061049
NM_000426.3(LAMA2):c.5469C>T (p.Ser1823=) rs753886576
NM_000426.3(LAMA2):c.5558T>G (p.Ile1853Arg) rs141911213
NM_000426.3(LAMA2):c.5560G>A (p.Asp1854Asn) rs886061050
NM_000426.3(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720
NM_000426.3(LAMA2):c.5689G>A (p.Ala1897Thr) rs200518204
NM_000426.3(LAMA2):c.5833G>A (p.Ala1945Thr) rs3828736
NM_000426.3(LAMA2):c.5893G>A (p.Glu1965Lys) rs886061052
NM_000426.3(LAMA2):c.595T>A (p.Cys199Ser) rs886043693
NM_000426.3(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507
NM_000426.3(LAMA2):c.6133A>G (p.Asn2045Asp) rs886061053
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.61C>G (p.Gln21Glu) rs886061039
NM_000426.3(LAMA2):c.6206A>G (p.Tyr2069Cys) rs117884199
NM_000426.3(LAMA2):c.6260C>A (p.Ser2087Tyr) rs1299914386
NM_000426.3(LAMA2):c.6268+5G>C rs182064878
NM_000426.3(LAMA2):c.6279C>T (p.Ala2093=) rs141190803
NM_000426.3(LAMA2):c.6323G>A (p.Arg2108Gln) rs750999777
NM_000426.3(LAMA2):c.6410C>T (p.Ala2137Val) rs886061054
NM_000426.3(LAMA2):c.6429+10T>G rs770063449
NM_000426.3(LAMA2):c.6438A>G (p.Val2146=) rs755485519
NM_000426.3(LAMA2):c.6563G>A (p.Ser2188Asn) rs372592018
NM_000426.3(LAMA2):c.6567C>T (p.Ala2189=) rs748650667
NM_000426.3(LAMA2):c.6629T>C (p.Val2210Ala) rs78880369
NM_000426.3(LAMA2):c.6667A>G (p.Thr2223Ala) rs886061055
NM_000426.3(LAMA2):c.6692G>A (p.Arg2231His) rs142536231
NM_000426.3(LAMA2):c.6708-3A>C rs112637707
NM_000426.3(LAMA2):c.6739G>C (p.Ala2247Pro) rs750585696
NM_000426.3(LAMA2):c.6820del (p.Asp2274fs) rs1562581261
NM_000426.3(LAMA2):c.6832A>G (p.Met2278Val) rs146854942
NM_000426.3(LAMA2):c.6884G>A (p.Arg2295His) rs142164767
NM_000426.3(LAMA2):c.7057C>T (p.Arg2353Cys) rs145885540
NM_000426.3(LAMA2):c.7153C>T (p.Leu2385=) rs1281520681
NM_000426.3(LAMA2):c.716G>A (p.Arg239His) rs776777494
NM_000426.3(LAMA2):c.7250A>G (p.His2417Arg) rs147185142
NM_000426.3(LAMA2):c.7300+10T>A rs200469923
NM_000426.3(LAMA2):c.7344T>C (p.Asn2448=) rs199931560
NM_000426.3(LAMA2):c.7395T>C (p.Asp2465=) rs140483001
NM_000426.3(LAMA2):c.7415G>T (p.Gly2472Val) rs200921233
NM_000426.3(LAMA2):c.7466T>C (p.Leu2489Pro) rs774287164
NM_000426.3(LAMA2):c.7479C>T (p.Ser2493=) rs368989339
NM_000426.3(LAMA2):c.74C>T (p.Pro25Leu) rs145310035
NM_000426.3(LAMA2):c.7526T>A (p.Leu2509His) rs578183193
NM_000426.3(LAMA2):c.7640G>A (p.Gly2547Glu) rs115488979
NM_000426.3(LAMA2):c.7681G>A (p.Gly2561Ser) rs200341138
NM_000426.3(LAMA2):c.7708A>G (p.Thr2570Ala) rs144901086
NM_000426.3(LAMA2):c.7762A>G (p.Ile2588Val) rs886061056
NM_000426.3(LAMA2):c.7869A>G (p.Glu2623=) rs140658201
NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.3(LAMA2):c.7965C>A (p.Ile2655=) rs141101234
NM_000426.3(LAMA2):c.8011C>A (p.Pro2671Thr) rs780695627
NM_000426.3(LAMA2):c.818G>A (p.Arg273Lys) rs886061043
NM_000426.3(LAMA2):c.819+7T>C rs886061044
NM_000426.3(LAMA2):c.8223G>A (p.Thr2741=) rs150596964
NM_000426.3(LAMA2):c.8298C>T (p.Phe2766=) rs145295628
NM_000426.3(LAMA2):c.831G>A (p.Ser277=) rs765960304
NM_000426.3(LAMA2):c.8388A>C (p.Glu2796Asp) rs184127828
NM_000426.3(LAMA2):c.8464T>C (p.Leu2822=) rs199570699
NM_000426.3(LAMA2):c.8586T>C (p.Tyr2862=) rs142451929
NM_000426.3(LAMA2):c.8633T>G (p.Ile2878Ser) rs886061057
NM_000426.3(LAMA2):c.8684C>G (p.Thr2895Ser) rs200705442
NM_000426.3(LAMA2):c.8690G>A (p.Arg2897Gln) rs201696115
NM_000426.3(LAMA2):c.8728G>A (p.Val2910Ile) rs141479751
NM_000426.3(LAMA2):c.8836G>A (p.Gly2946Arg) rs370843758
NM_000426.3(LAMA2):c.8890G>T (p.Val2964Leu) rs202159946
NM_000426.3(LAMA2):c.8905C>T (p.Arg2969Cys) rs374888837
NM_000426.3(LAMA2):c.8988+15T>C rs201041465
NM_000426.3(LAMA2):c.8989-12C>G rs144860334
NM_000426.3(LAMA2):c.9001G>C (p.Val3001Leu) rs189360899
NM_000426.3(LAMA2):c.9145C>G (p.Gln3049Glu) rs146525742
NM_000426.3(LAMA2):c.9211+6T>C rs201375881
NM_000426.3(LAMA2):c.9212-11G>A rs770088527
NM_000426.3(LAMA2):c.922G>A (p.Glu308Lys) rs146462599
NM_000426.3(LAMA2):c.9240C>A (p.Thr3080=) rs759819184
NM_000426.3(LAMA2):c.9254G>A (p.Arg3085Gln) rs776606476
NM_000426.3(LAMA2):c.9328G>A (p.Glu3110Lys) rs140829166
NM_000426.3(LAMA2):c.9340G>A (p.Val3114Ile) rs200796753
NM_000426.3(LAMA2):c.946G>A (p.Asp316Asn) rs141340479
NM_000426.3(LAMA2):c.98C>A (p.Ala33Glu) rs750280423
NM_000426.4(LAMA2):c.1319G>A (p.Gly440Glu)
NM_000426.4(LAMA2):c.1615G>C (p.Asp539His)
NM_000426.4(LAMA2):c.1652G>A (p.Arg551His)
NM_000426.4(LAMA2):c.1757C>T (p.Ala586Val)
NM_000426.4(LAMA2):c.2036C>G (p.Ala679Gly)
NM_000426.4(LAMA2):c.2358T>A (p.Asp786Glu)
NM_000426.4(LAMA2):c.2527C>A (p.Arg843Ser)
NM_000426.4(LAMA2):c.2545G>A (p.Glu849Lys)
NM_000426.4(LAMA2):c.2710G>A (p.Gly904Arg)
NM_000426.4(LAMA2):c.3203T>C (p.Leu1068Ser)
NM_000426.4(LAMA2):c.3333T>A (p.Pro1111=)
NM_000426.4(LAMA2):c.3338C>T (p.Thr1113Ile)
NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser)
NM_000426.4(LAMA2):c.396+3A>G
NM_000426.4(LAMA2):c.4235C>A (p.Pro1412Gln)
NM_000426.4(LAMA2):c.4258T>C (p.Cys1420Arg)
NM_000426.4(LAMA2):c.4592C>G (p.Pro1531Arg)
NM_000426.4(LAMA2):c.4995A>C (p.Gly1665=)
NM_000426.4(LAMA2):c.519C>T (p.Asp173=)
NM_000426.4(LAMA2):c.5288G>A (p.Gly1763Glu)
NM_000426.4(LAMA2):c.5380A>G (p.Thr1794Ala)
NM_000426.4(LAMA2):c.5461G>A (p.Val1821Ile)
NM_000426.4(LAMA2):c.5536G>A (p.Ala1846Thr)
NM_000426.4(LAMA2):c.5553C>T (p.Ser1851=)
NM_000426.4(LAMA2):c.5722G>A (p.Asp1908Asn)
NM_000426.4(LAMA2):c.5833G>C (p.Ala1945Pro)
NM_000426.4(LAMA2):c.6006A>G (p.Ile2002Met)
NM_000426.4(LAMA2):c.6183C>A (p.Asn2061Lys)
NM_000426.4(LAMA2):c.6269-12A>C
NM_000426.4(LAMA2):c.62A>G (p.Gln21Arg)
NM_000426.4(LAMA2):c.6598C>T (p.Arg2200Cys)
NM_000426.4(LAMA2):c.6635C>G (p.Ser2212Cys)
NM_000426.4(LAMA2):c.6691C>A (p.Arg2231Ser)
NM_000426.4(LAMA2):c.7148G>A (p.Arg2383Gln)
NM_000426.4(LAMA2):c.7186G>A (p.Gly2396Arg)
NM_000426.4(LAMA2):c.718T>C (p.Tyr240His)
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile)
NM_000426.4(LAMA2):c.7898+12A>G
NM_000426.4(LAMA2):c.7985T>C (p.Val2662Ala)
NM_000426.4(LAMA2):c.8205C>T (p.Pro2735=)
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr) rs115650537
NM_000426.4(LAMA2):c.8357+4T>A
NM_000426.4(LAMA2):c.8419C>G (p.Arg2807Gly)
NM_000426.4(LAMA2):c.8443A>G (p.Thr2815Ala)
NM_000426.4(LAMA2):c.8547+14G>A
NM_000426.4(LAMA2):c.8760C>T (p.Ala2920=)
NM_000426.4(LAMA2):c.9007A>G (p.Asn3003Asp)
NM_000426.4(LAMA2):c.9073T>C (p.Trp3025Arg)
NM_000426.4(LAMA2):c.9107G>A (p.Arg3036His)
NM_000426.4(LAMA2):c.9171A>C (p.Ser3057=)
NM_000426.4(LAMA2):c.9223C>A (p.Gln3075Lys)
NM_001079823.2(LAMA2):c.5443G>C (p.Glu1815Gln) rs1554287445

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.