ClinVar Miner

Variants in gene MYLK with conflicting interpretations

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
772 103 0 40 54 0 3 88

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 1 1 1
uncertain significance 0 1 0 46 10
likely benign 1 1 46 0 40
benign 0 1 10 40 0

All variants with conflicting interpretations #

Total variants: 88
Download table as spreadsheet
HGVS dbSNP
NM_053025.4(MYLK):c.*1174_*1177dup rs146691098
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658
NM_053025.4(MYLK):c.1212C>A (p.Pro404=) rs765597431
NM_053025.4(MYLK):c.1213A>G (p.Met405Val) rs35436690
NM_053025.4(MYLK):c.1221C>A (p.Gly407=) rs765175526
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360
NM_053025.4(MYLK):c.1359C>T (p.Pro453=) rs200973568
NM_053025.4(MYLK):c.1569C>T (p.Cys523=) rs150378280
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp) rs552998417
NM_053025.4(MYLK):c.1651+7T>C rs758327487
NM_053025.4(MYLK):c.1752A>G (p.Leu584=) rs775877814
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323
NM_053025.4(MYLK):c.207C>T (p.Asn69=) rs376457425
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596
NM_053025.4(MYLK):c.2113C>T (p.Arg705Cys) rs547322504
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) rs201615936
NM_053025.4(MYLK):c.2124C>T (p.Ala708=) rs372939794
NM_053025.4(MYLK):c.2125G>A (p.Val709Met) rs112537316
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys) rs143468713
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) rs193007255
NM_053025.4(MYLK):c.24C>G (p.Ala8=) rs78118111
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) rs536506601
NM_053025.4(MYLK):c.2604C>T (p.Asp868=) rs372924929
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu) rs368325180
NM_053025.4(MYLK):c.2628C>T (p.Arg876=) rs571744275
NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln) rs145507832
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487
NM_053025.4(MYLK):c.2781C>T (p.Ala927=) rs12172928
NM_053025.4(MYLK):c.2799G>A (p.Val933=) rs144806671
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) rs149482336
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.3242A>G (p.His1081Arg) rs113491038
NM_053025.4(MYLK):c.3336C>A (p.Gly1112=) rs1060504648
NM_053025.4(MYLK):c.3372C>T (p.Asp1124=) rs774568740
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=) rs146320279
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) rs147735490
NM_053025.4(MYLK):c.373+18C>T rs140559450
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022
NM_053025.4(MYLK):c.3832-6C>T rs185681684
NM_053025.4(MYLK):c.3832-8G>C rs202218458
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) rs377231739
NM_053025.4(MYLK):c.3897C>T (p.Ala1299=) rs553472487
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=) rs563116446
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=) rs371602931
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys) rs181663420
NM_053025.4(MYLK):c.422+14G>C rs146112057
NM_053025.4(MYLK):c.4289-4C>G rs376670657
NM_053025.4(MYLK):c.4289-9C>G rs41443051
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=) rs145872838
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751
NM_053025.4(MYLK):c.455G>A (p.Arg152His) rs201754358
NM_053025.4(MYLK):c.4620-18G>A rs41305835
NM_053025.4(MYLK):c.4620-6C>T rs113607507
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=) rs374665486
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=) rs371814184
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met) rs76655666
NM_053025.4(MYLK):c.4920C>T (p.Tyr1640=) rs756699701
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996
NM_053025.4(MYLK):c.5114+8G>A rs202229368
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=) rs144436556
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=) rs56262958
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907
NM_053025.4(MYLK):c.5501-20G>A rs186240444
NM_053025.4(MYLK):c.588+10C>T rs886038709
NM_053025.4(MYLK):c.601C>T (p.Leu201=) rs773082759
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577
NM_053025.4(MYLK):c.755-12C>T rs138877679
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164
NM_053025.4(MYLK):c.984G>A (p.Ser328=) rs115018449
NM_053025.4(MYLK):c.993G>A (p.Thr331=) rs55932343
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347
NM_053025.4(MYLK):c.999G>T (p.Pro333=) rs13319347

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