ClinVar Miner

Variants in gene KIF1A 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
974 63 0 54 29 0 2 77

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 21 0 0 0
likely pathogenic 21 0 2 0 0
uncertain significance 0 2 0 23 12
likely benign 0 0 23 0 33
benign 0 0 12 33 0

All variants with conflicting interpretations #

Total variants: 77
Download table as spreadsheet
NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter)
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter)
NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp)
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.865-24CT[2] rs140674901
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro)
NM_004321.7(KIF1A):c.1048C>G (p.Arg350Gly) rs387907259
NM_004321.7(KIF1A):c.1394+9C>T rs372601809
NM_004321.7(KIF1A):c.1476A>G (p.Pro492=) rs35663732
NM_004321.7(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_004321.7(KIF1A):c.183+7C>T rs74469870
NM_004321.7(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_004321.7(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_004321.7(KIF1A):c.2208C>T (p.Ala736=) rs35945835
NM_004321.7(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_004321.7(KIF1A):c.234C>T (p.Gly78=) rs61744930
NM_004321.7(KIF1A):c.2358C>T (p.Ala786=) rs62637652
NM_004321.7(KIF1A):c.2418-8C>T rs200705912
NM_004321.7(KIF1A):c.2448C>T (p.Tyr816=) rs199996308
NM_004321.7(KIF1A):c.2466G>T (p.Val822=) rs201861261
NM_004321.7(KIF1A):c.2555+996G>A rs192102667
NM_004321.7(KIF1A):c.2631C>T (p.Gly877=) rs751977290
NM_004321.7(KIF1A):c.2655G>C (p.Val885=) rs186881889
NM_004321.7(KIF1A):c.2676C>T (p.Ala892=) rs116297894
NM_004321.7(KIF1A):c.2769C>T (p.Ser923=) rs73102625
NM_004321.7(KIF1A):c.2782G>A (p.Val928Met) rs183359489
NM_004321.7(KIF1A):c.2899+10C>A rs190997558
NM_004321.7(KIF1A):c.2943C>T (p.Ala981=) rs368682964
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004321.7(KIF1A):c.2979C>T (p.His993=) rs35664935
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) rs200149062
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) rs370286749
NM_004321.7(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_004321.7(KIF1A):c.3165C>T (p.Ile1055=) rs201981364
NM_004321.7(KIF1A):c.3191T>C (p.Ile1064Thr) rs35698242
NM_004321.7(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_004321.7(KIF1A):c.3377C>T (p.Pro1126Leu) rs374244985
NM_004321.7(KIF1A):c.3513+9C>T rs527731125
NM_004321.7(KIF1A):c.3549T>C (p.His1183=) rs184931664
NM_004321.7(KIF1A):c.3585C>T (p.Arg1195=) rs144520412
NM_004321.7(KIF1A):c.3840G>A (p.Pro1280=) rs2241683
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_004321.7(KIF1A):c.393C>T (p.Asn131=) rs35139906
NM_004321.7(KIF1A):c.4016-8C>T rs1529663
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004321.7(KIF1A):c.4441-5C>T rs117815481
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) rs371737085
NM_004321.7(KIF1A):c.4475C>T (p.Pro1492Leu) rs200902828
NM_004321.7(KIF1A):c.4509C>A (p.Thr1503=) rs76974316
NM_004321.7(KIF1A):c.4531C>T (p.Leu1511=) rs772100288
NM_004321.7(KIF1A):c.4572G>A (p.Pro1524=) rs201418175
NM_004321.7(KIF1A):c.4586G>A (p.Arg1529Gln) rs191428830
NM_004321.7(KIF1A):c.4606G>A (p.Glu1536Lys) rs377032453
NM_004321.7(KIF1A):c.4614G>A (p.Leu1538=) rs187810230
NM_004321.7(KIF1A):c.4652G>A (p.Arg1551Gln) rs376658420
NM_004321.7(KIF1A):c.4718+16C>T rs138847355
NM_004321.7(KIF1A):c.4740G>A (p.Gly1580=) rs143815273
NM_004321.7(KIF1A):c.4761G>A (p.Pro1587=) rs527977882
NM_004321.7(KIF1A):c.4767G>A (p.Thr1589=) rs201733233
NM_004321.7(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_004321.7(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_004321.7(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_004321.7(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_004321.7(KIF1A):c.799-4G>A rs759945798
NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_004321.7(KIF1A):c.882+8G>A rs376552408
NM_004321.7(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_004321.7(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_004321.7(KIF1A):c.991T>C (p.Leu331=) rs1063353
Single allele

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