ClinVar Miner

Variants in gene MYLK with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1670 170 0 71 101 0 7 157

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 0 0 1 0
likely pathogenic 0 0 5 1 1
uncertain significance 0 5 0 89 15
likely benign 1 1 89 0 71
benign 0 1 15 71 0

All variants with conflicting interpretations #

Total variants: 157
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487 0.06754
NM_053025.4(MYLK):c.4620-12G>A rs41301337 0.03066
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360 0.01032
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 0.00637
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788 0.00558
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg) rs111256888 0.00440
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751 0.00406
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602 0.00404
NM_053025.4(MYLK):c.422+14G>C rs146112057 0.00400
NM_053025.4(MYLK):c.984G>A (p.Ser328=) rs115018449 0.00277
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) rs113491038 0.00235
NM_053025.4(MYLK):c.24C>G (p.Ala8=) rs78118111 0.00229
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile) rs142220417 0.00197
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_053025.4(MYLK):c.4620-18G>A rs41305835 0.00153
NM_053025.4(MYLK):c.5501-20G>A rs186240444 0.00153
NM_053025.4(MYLK):c.4415+9A>G rs187964526 0.00125
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val) rs113124819 0.00092
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_053025.4(MYLK):c.373+18C>T rs140559450 0.00078
NM_053025.4(MYLK):c.4014T>C (p.Pro1338=) rs55669734 0.00071
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842 0.00055
NM_053025.4(MYLK):c.1219G>T (p.Gly407Cys) rs199719143 0.00053
NM_053025.4(MYLK):c.5166T>C (p.Asp1722=) rs140870383 0.00053
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys) rs181663420 0.00042
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207 0.00041
NM_053025.4(MYLK):c.3653-10_3653-8del rs576620371 0.00040
NM_053025.4(MYLK):c.4929C>T (p.Asp1643=) rs138423692 0.00036
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172 0.00032
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly) rs149866482 0.00032
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=) rs56262958 0.00032
NM_053025.4(MYLK):c.711C>T (p.Asn237=) rs149407805 0.00031
NM_053025.4(MYLK):c.754+17G>A rs146661440 0.00031
NM_053025.4(MYLK):c.2125G>A (p.Val709Met) rs112537316 0.00029
NM_053025.4(MYLK):c.2127G>A (p.Val709=) rs138575251 0.00027
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497 0.00026
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049 0.00025
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro) rs146576868 0.00023
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=) rs144436556 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg) rs147770839 0.00022
NM_053025.4(MYLK):c.1310-20T>C rs375101899 0.00020
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) rs147735490 0.00020
NM_053025.4(MYLK):c.455G>A (p.Arg152His) rs201754358 0.00020
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00019
NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln) rs145507832 0.00017
NM_053025.4(MYLK):c.1569C>T (p.Cys523=) rs150378280 0.00016
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686 0.00016
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323 0.00015
NM_053025.4(MYLK):c.3652+10C>T rs199521089 0.00015
NM_053025.4(MYLK):c.207C>T (p.Asn69=) rs376457425 0.00014
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) rs149482336 0.00014
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=) rs146320279 0.00014
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) rs151294221 0.00014
NM_053025.4(MYLK):c.3639G>A (p.Val1213=) rs148419939 0.00014
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=) rs371602931 0.00014
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) rs34542174 0.00013
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) rs201332554 0.00012
NM_053025.4(MYLK):c.3112A>G (p.Met1038Val) rs763247566 0.00012
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys) rs146682969 0.00012
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) rs377231739 0.00011
NM_053025.4(MYLK):c.4620-4G>A rs371533014 0.00011
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658 0.00010
NM_053025.4(MYLK):c.1631G>A (p.Arg544Gln) rs146724203 0.00010
NM_053025.4(MYLK):c.2799G>A (p.Val933=) rs144806671 0.00010
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met) rs76655666 0.00010
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) rs536506601 0.00009
NM_053025.4(MYLK):c.3750C>T (p.Arg1250=) rs201873975 0.00009
NM_053025.4(MYLK):c.4289-13del rs779252356 0.00009
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=) rs374665486 0.00009
NM_053025.4(MYLK):c.1212C>A (p.Pro404=) rs765597431 0.00008
NM_053025.4(MYLK):c.3832-9C>T rs200022087 0.00008
NM_053025.4(MYLK):c.3897C>T (p.Ala1299=) rs553472487 0.00008
NM_053025.4(MYLK):c.1651+7T>C rs758327487 0.00007
NM_053025.4(MYLK):c.2070G>A (p.Thr690=) rs141049942 0.00007
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) rs201615936 0.00007
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022 0.00007
NM_053025.4(MYLK):c.5238+6G>A rs769544580 0.00007
NM_053025.4(MYLK):c.5514C>T (p.Pro1838=) rs147536036 0.00007
NM_053025.4(MYLK):c.601C>T (p.Leu201=) rs773082759 0.00007
NM_053025.4(MYLK):c.1752A>G (p.Leu584=) rs775877814 0.00006
NM_053025.4(MYLK):c.1954C>G (p.Pro652Ala) rs750686734 0.00006
NM_053025.4(MYLK):c.2049G>A (p.Gln683=) rs757464897 0.00006
NM_053025.4(MYLK):c.2627G>A (p.Arg876His) rs537224715 0.00006
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr) rs11558550 0.00006
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu) rs746690413 0.00005
NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met) rs200490629 0.00005
NM_053025.4(MYLK):c.1213A>G (p.Met405Val) rs35436690 0.00004
NM_053025.4(MYLK):c.2124C>T (p.Ala708=) rs372939794 0.00004
NM_053025.4(MYLK):c.2183G>A (p.Arg728His) rs370154845 0.00004
NM_053025.4(MYLK):c.2733G>A (p.Ser911=) rs200117191 0.00004
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu) rs368229473 0.00004
NM_053025.4(MYLK):c.374-9T>C rs376695367 0.00004
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=) rs145872838 0.00004
NM_053025.4(MYLK):c.969G>A (p.Glu323=) rs368095613 0.00004
NM_053025.4(MYLK):c.993G>A (p.Thr331=) rs55932343 0.00004
NM_053025.4(MYLK):c.998C>T (p.Pro333Leu) rs568039936 0.00004
NM_053025.4(MYLK):c.1509A>G (p.Gln503=) rs948829374 0.00003
NM_053025.4(MYLK):c.2781C>T (p.Ala927=) rs12172928 0.00003
NM_053025.4(MYLK):c.344G>A (p.Arg115His) rs141131535 0.00003
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=) rs376676607 0.00003
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=) rs371814184 0.00003
NM_053025.4(MYLK):c.4838-3C>T rs776825316 0.00003
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met) rs374662467 0.00003
NM_053025.4(MYLK):c.1023T>G (p.Thr341=) rs201619646 0.00002
NM_053025.4(MYLK):c.1359C>T (p.Pro453=) rs200973568 0.00002
NM_053025.4(MYLK):c.1517-2A>G rs770709606 0.00002
NM_053025.4(MYLK):c.2628C>T (p.Arg876=) rs571744275 0.00002
NM_053025.4(MYLK):c.2760C>T (p.Ala920=) rs368080781 0.00002
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996 0.00002
NM_053025.4(MYLK):c.5155C>T (p.Leu1719=) rs1057523680 0.00002
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp) rs552998417 0.00001
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn) rs749069560 0.00001
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys) rs143468713 0.00001
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr) rs145191000 0.00001
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) rs193007255 0.00001
NM_053025.4(MYLK):c.2604C>T (p.Asp868=) rs372924929 0.00001
NM_053025.4(MYLK):c.3336C>A (p.Gly1112=) rs1060504648 0.00001
NM_053025.4(MYLK):c.3372C>T (p.Asp1124=) rs774568740 0.00001
NM_053025.4(MYLK):c.3705A>C (p.Ala1235=) rs563569935 0.00001
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=) rs563116446 0.00001
NM_053025.4(MYLK):c.4700G>A (p.Arg1567Gln) rs757766496 0.00001
NM_053025.4(MYLK):c.4920C>T (p.Tyr1640=) rs756699701 0.00001
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter) rs761508149 0.00001
NM_053025.4(MYLK):c.5703G>A (p.Thr1901=) rs540804249 0.00001
NM_053025.4(MYLK):c.588+10C>T rs886038709 0.00001
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser) rs201835018 0.00001
NM_053025.4(MYLK):c.616C>T (p.Arg206Cys) rs557873884 0.00001
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter) rs545515041 0.00001
NM_053025.4(MYLK):c.*1174_*1177dup rs146691098
NM_053025.4(MYLK):c.1048G>A (p.Ala350Thr) rs532659627
NM_053025.4(MYLK):c.1179TGT[1] (p.Val395del) rs771815695
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) rs928811814
NM_053025.4(MYLK):c.1327C>A (p.Pro443Thr) rs35156360
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu) rs368325180
NM_053025.4(MYLK):c.2760C>G (p.Ala920=) rs368080781
NM_053025.4(MYLK):c.3024G>A (p.Val1008=) rs886057860
NM_053025.4(MYLK):c.3184G>T (p.Ala1062Ser) rs11558550
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) rs368390254
NM_053025.4(MYLK):c.3832-8G>C rs202218458
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_053025.4(MYLK):c.4289-3del rs41431347
NM_053025.4(MYLK):c.4289-9C>G rs41443051
NM_053025.4(MYLK):c.588+13_588+16del rs570821069
NM_053025.4(MYLK):c.999G>T (p.Pro333=) rs13319347

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