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 Variants with at least 2 submissions 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 kind of conflict
420 104 0 51 53 0 1 96

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 1 0 0 0
likely pathogenic 1 0 1 1 0
uncertain significance 0 1 0 47 14
likely benign 0 1 47 0 50
benign 0 0 14 50 0

All variants with conflicting interpretations #

Total variants: 96
Download table as spreadsheet
HGVS dbSNP
NM_053025.3(MYLK):c.*1174_*1177dupCTTA rs146691098
NM_053025.3(MYLK):c.*1809A>G rs6438804
NM_053025.3(MYLK):c.-197T>C rs528654061
NM_053025.3(MYLK):c.-24C>T rs553555866
NM_053025.3(MYLK):c.1005C>T (p.Thr335=) rs4678047
NM_053025.3(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.3(MYLK):c.1133G>A (p.Arg378His) rs56378658
NM_053025.3(MYLK):c.1327C>T (p.Pro443Ser) rs35156360
NM_053025.3(MYLK):c.1474G>A (p.Ala492Thr) rs143010767
NM_053025.3(MYLK):c.1486C>G (p.Leu496Val) rs9833275
NM_053025.3(MYLK):c.1516A>G (p.Arg506Gly) rs77323602
NM_053025.3(MYLK):c.1569C>T (p.Cys523=) rs150378280
NM_053025.3(MYLK):c.1609G>A (p.Val537Ile) rs199988497
NM_053025.3(MYLK):c.1651+6T>A rs820329
NM_053025.3(MYLK):c.1804+8C>T rs820355
NM_053025.3(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.3(MYLK):c.1991A>G (p.Gln664Arg) rs200273207
NM_053025.3(MYLK):c.2023G>A (p.Gly675Arg) rs147008323
NM_053025.3(MYLK):c.207C>T (p.Asn69=) rs376457425
NM_053025.3(MYLK):c.2113C>T (p.Arg705Cys) rs547322504
NM_053025.3(MYLK):c.2124C>T (p.Ala708=) rs372939794
NM_053025.3(MYLK):c.2125G>A (p.Val709Met) rs112537316
NM_053025.3(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_053025.3(MYLK):c.2253C>T (p.Thr751=) rs138777049
NM_053025.3(MYLK):c.24C>G (p.Ala8=) rs78118111
NM_053025.3(MYLK):c.2533C>T (p.Arg845Cys) rs3732485
NM_053025.3(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_053025.3(MYLK):c.2582T>C (p.Leu861Pro) rs3732486
NM_053025.3(MYLK):c.2589G>A (p.Glu863=) rs536506601
NM_053025.3(MYLK):c.260G>A (p.Gly87Glu) rs368325180
NM_053025.3(MYLK):c.2628C>T (p.Arg876=) rs571744275
NM_053025.3(MYLK):c.2693G>A (p.Arg898Gln) rs145507832
NM_053025.3(MYLK):c.2742C>A (p.Asp914Glu) rs3732487
NM_053025.3(MYLK):c.2799G>A (p.Val933=) rs144806671
NM_053025.3(MYLK):c.2919G>A (p.Pro973=) rs149482336
NM_053025.3(MYLK):c.3027G>A (p.Glu1009=) rs12172926
NM_053025.3(MYLK):c.3032C>T (p.Ser1011Phe) rs200423083
NM_053025.3(MYLK):c.3184G>A (p.Ala1062Thr) rs11558550
NM_053025.3(MYLK):c.3196_3198delGAA (p.Glu1066del) rs75967604
NM_053025.3(MYLK):c.3242A>G (p.His1081Arg) rs113491038
NM_053025.3(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906
NM_053025.3(MYLK):c.3402C>T (p.Asn1134=) rs865358
NM_053025.3(MYLK):c.3448+15G>A rs199789942
NM_053025.3(MYLK):c.3525C>T (p.Asp1175=) rs147735490
NM_053025.3(MYLK):c.3558C>T (p.Thr1186=) rs40305
NM_053025.3(MYLK):c.3652+11G>A rs41271437
NM_053025.3(MYLK):c.3706A>G (p.Met1236Val) rs113124819
NM_053025.3(MYLK):c.3832-6C>T rs185681684
NM_053025.3(MYLK):c.383C>T (p.Ala128Val) rs143896146
NM_053025.3(MYLK):c.3843C>T (p.Ser1281=) rs377231739
NM_053025.3(MYLK):c.3868G>A (p.Glu1290Lys) rs145953933
NM_053025.3(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_053025.3(MYLK):c.3915C>T (p.Cys1305=) rs371602931
NM_053025.3(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788
NM_053025.3(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_053025.3(MYLK):c.4014T>C (p.Pro1338=) rs55669734
NM_053025.3(MYLK):c.411C>G (p.Ser137=) rs55760507
NM_053025.3(MYLK):c.4194C>T (p.His1398=) rs17298941
NM_053025.3(MYLK):c.423-8C>T rs751696363
NM_053025.3(MYLK):c.4289-13delG rs779252356
NM_053025.3(MYLK):c.4289-3dupC rs41431347
NM_053025.3(MYLK):c.4289-4C>G rs376670657
NM_053025.3(MYLK):c.4289-4_4289-3dup rs41431347
NM_053025.3(MYLK):c.4302A>G (p.Glu1434=) rs145872838
NM_053025.3(MYLK):c.4317T>C (p.Asp1439=) rs1254392
NM_053025.3(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751
NM_053025.3(MYLK):c.439C>T (p.Pro147Ser) rs9840993
NM_053025.3(MYLK):c.4415+9A>G rs187964526
NM_053025.3(MYLK):c.4620-12G>A rs41301337
NM_053025.3(MYLK):c.4620-4G>A rs371533014
NM_053025.3(MYLK):c.4620-6C>T rs113607507
NM_053025.3(MYLK):c.4725C>T (p.Tyr1575=) rs374665486
NM_053025.3(MYLK):c.4764G>A (p.Pro1588=) rs56056823
NM_053025.3(MYLK):c.479C>G (p.Pro160Arg) rs111256888
NM_053025.3(MYLK):c.4800G>A (p.Arg1600=) rs111901174
NM_053025.3(MYLK):c.4838-3C>T rs776825316
NM_053025.3(MYLK):c.4842T>C (p.Asn1614=) rs820463
NM_053025.3(MYLK):c.4882G>A (p.Val1628Met) rs76655666
NM_053025.3(MYLK):c.5001C>T (p.Asn1667=) rs375038682
NM_053025.3(MYLK):c.5114+7A>G rs1553774672
NM_053025.3(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781
NM_053025.3(MYLK):c.5368+13_5368+21delTTCTCCAGC rs146990616
NM_053025.3(MYLK):c.5369-10T>G rs373584324
NM_053025.3(MYLK):c.5441C>T (p.Thr1814Ile) rs142220417
NM_053025.3(MYLK):c.5448C>T (p.Arg1816=) rs56262958
NM_053025.3(MYLK):c.5703G>A (p.Thr1901=) rs540804249
NM_053025.3(MYLK):c.588+10C>T rs886038709
NM_053025.3(MYLK):c.588+13_588+16delTCTG rs570821069
NM_053025.3(MYLK):c.593A>G (p.Asn198Ser) rs201835018
NM_053025.3(MYLK):c.601C>T (p.Leu201=) rs773082759
NM_053025.3(MYLK):c.619G>A (p.Val207Met) rs756560698
NM_053025.3(MYLK):c.62C>A (p.Pro21His) rs28497577
NM_053025.3(MYLK):c.755-12C>T rs138877679
NM_053025.3(MYLK):c.782T>C (p.Val261Ala) rs3796164
NM_053025.3(MYLK):c.993G>A (p.Thr331=) rs55932343
NM_053025.3(MYLK):c.999G>A (p.Pro333=) rs13319347

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