ClinVar Miner

Variants in gene KAT6A 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:

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
1784 132 0 81 55 0 2 134

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 6 0 0 0
likely pathogenic 6 0 1 1 0
uncertain significance 0 1 0 52 6
likely benign 0 1 52 0 75
benign 0 0 6 75 0

All variants with conflicting interpretations #

Total variants: 134
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.3577G>A (p.Val1193Ile) rs34620183 0.00973
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_006766.5(KAT6A):c.5379G>A (p.Gln1793=) rs34566148 0.00553
NM_006766.5(KAT6A):c.1599-9C>T rs74337152 0.00442
NM_006766.5(KAT6A):c.4146G>A (p.Thr1382=) rs75346307 0.00161
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00137
NM_006766.5(KAT6A):c.5994C>T (p.Asn1998=) rs117270099 0.00124
NM_006766.5(KAT6A):c.336G>C (p.Glu112Asp) rs138399992 0.00112
NM_006766.5(KAT6A):c.5526G>A (p.Thr1842=) rs146496080 0.00078
NM_006766.5(KAT6A):c.1134A>G (p.Ser378=) rs147952562 0.00072
NM_006766.5(KAT6A):c.1029G>T (p.Lys343Asn) rs35529154 0.00068
NM_006766.5(KAT6A):c.3561C>T (p.Cys1187=) rs368311389 0.00059
NM_006766.5(KAT6A):c.1741-10A>G rs189761822 0.00048
NM_006766.5(KAT6A):c.4956A>G (p.Pro1652=) rs201475966 0.00046
NM_006766.5(KAT6A):c.2226C>T (p.Asp742=) rs143212958 0.00038
NM_006766.5(KAT6A):c.2373A>C (p.Glu791Asp) rs201345009 0.00038
NM_006766.5(KAT6A):c.1185T>G (p.Asp395Glu) rs111806051 0.00036
NM_006766.5(KAT6A):c.1364-11T>C rs1475008472 0.00032
NM_006766.5(KAT6A):c.3242C>G (p.Pro1081Arg) rs143819823 0.00031
NM_006766.5(KAT6A):c.2760G>C (p.Leu920=) rs200864330 0.00027
NM_006766.5(KAT6A):c.1599-10T>C rs144973262 0.00026
NM_006766.5(KAT6A):c.1482+6G>A rs372494190 0.00025
NM_006766.5(KAT6A):c.2533C>T (p.Arg845Cys) rs145797427 0.00024
NM_006766.5(KAT6A):c.5036C>T (p.Pro1679Leu) rs552834605 0.00024
NM_006766.5(KAT6A):c.4611C>T (p.Ser1537=) rs200721745 0.00023
NM_006766.5(KAT6A):c.4779G>A (p.Ser1593=) rs149912064 0.00022
NM_006766.5(KAT6A):c.1157G>A (p.Arg386Gln) rs140780968 0.00019
NM_006766.5(KAT6A):c.1342A>G (p.Ser448Gly) rs149459548 0.00017
NM_006766.5(KAT6A):c.600+5G>T rs138578452 0.00015
NM_006766.5(KAT6A):c.5597C>G (p.Ser1866Cys) rs181712540 0.00014
NM_006766.5(KAT6A):c.603G>A (p.Pro201=) rs148925079 0.00014
NM_006766.5(KAT6A):c.4149C>T (p.Ser1383=) rs35760242 0.00013
NM_006766.5(KAT6A):c.2981C>T (p.Pro994Leu) rs780456616 0.00012
NM_006766.5(KAT6A):c.3832C>T (p.Arg1278Cys) rs143346098 0.00012
NM_006766.5(KAT6A):c.4119C>T (p.Ser1373=) rs747714674 0.00011
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val) rs750315709 0.00010
NM_006766.5(KAT6A):c.3837C>T (p.Val1279=) rs527685141 0.00009
NM_006766.5(KAT6A):c.4985C>T (p.Pro1662Leu) rs575256565 0.00008
NM_006766.5(KAT6A):c.3764C>G (p.Ala1255Gly) rs373190705 0.00007
NM_006766.5(KAT6A):c.4560C>T (p.Ser1520=) rs370577877 0.00007
NM_006766.5(KAT6A):c.2517T>C (p.Ala839=) rs141724678 0.00006
NM_006766.5(KAT6A):c.2918A>G (p.Tyr973Cys) rs141667969 0.00006
NM_006766.5(KAT6A):c.5600C>T (p.Ala1867Val) rs145754397 0.00006
NM_006766.5(KAT6A):c.3440A>T (p.Lys1147Ile) rs545152883 0.00005
NM_006766.5(KAT6A):c.1065A>T (p.Lys355Asn) rs140126559 0.00004
NM_006766.5(KAT6A):c.1603C>T (p.Pro535Ser) rs753999434 0.00004
NM_006766.5(KAT6A):c.2791G>A (p.Gly931Arg) rs779101695 0.00004
NM_006766.5(KAT6A):c.4107C>T (p.Thr1369=) rs371651920 0.00004
NM_006766.5(KAT6A):c.4182C>T (p.Asp1394=) rs150230451 0.00004
NM_006766.5(KAT6A):c.4988C>T (p.Pro1663Leu) rs755968563 0.00004
NM_006766.5(KAT6A):c.5586G>A (p.Ala1862=) rs199854130 0.00004
NM_006766.5(KAT6A):c.2241C>A (p.Ile747=) rs747658625 0.00003
NM_006766.5(KAT6A):c.3086A>G (p.His1029Arg) rs770881077 0.00003
NM_006766.5(KAT6A):c.3982A>G (p.Lys1328Glu) rs199709098 0.00003
NM_006766.5(KAT6A):c.4150G>A (p.Val1384Met) rs752818339 0.00003
NM_006766.5(KAT6A):c.4644C>T (p.Ser1548=) rs369899898 0.00003
NM_006766.5(KAT6A):c.4890C>G (p.Cys1630Trp) rs951927737 0.00003
NM_006766.5(KAT6A):c.4953G>A (p.Pro1651=) rs765452256 0.00003
NM_006766.5(KAT6A):c.502C>T (p.Arg168Trp) rs369777293 0.00003
NM_006766.5(KAT6A):c.5339A>G (p.Tyr1780Cys) rs61753681 0.00003
NM_006766.5(KAT6A):c.5417C>T (p.Ala1806Val) rs375665086 0.00003
NM_006766.5(KAT6A):c.5585C>T (p.Ala1862Val) rs759267222 0.00003
NM_006766.5(KAT6A):c.5637A>G (p.Pro1879=) rs377096572 0.00003
NM_006766.5(KAT6A):c.107T>C (p.Val36Ala) rs367773799 0.00002
NM_006766.5(KAT6A):c.1108C>G (p.Leu370Val) rs760965283 0.00002
NM_006766.5(KAT6A):c.2046G>A (p.Pro682=) rs190790272 0.00002
NM_006766.5(KAT6A):c.2599C>T (p.Arg867Cys) rs998720218 0.00002
NM_006766.5(KAT6A):c.3395A>G (p.Asp1132Gly) rs774099938 0.00002
NM_006766.5(KAT6A):c.3801G>C (p.Glu1267Asp) rs555349616 0.00002
NM_006766.5(KAT6A):c.3915T>C (p.Ala1305=) rs756943118 0.00002
NM_006766.5(KAT6A):c.4723G>A (p.Gly1575Ser) rs202195747 0.00002
NM_006766.5(KAT6A):c.4801A>G (p.Ser1601Gly) rs753768766 0.00002
NM_006766.5(KAT6A):c.5313T>C (p.Tyr1771=) rs568223536 0.00002
NM_006766.5(KAT6A):c.101A>G (p.Asn34Ser) rs765258483 0.00001
NM_006766.5(KAT6A):c.2436+2dup rs1822202286 0.00001
NM_006766.5(KAT6A):c.2459A>G (p.Glu820Gly) rs769304001 0.00001
NM_006766.5(KAT6A):c.2505A>G (p.Pro835=) rs539733080 0.00001
NM_006766.5(KAT6A):c.2689G>C (p.Glu897Gln) rs1367238054 0.00001
NM_006766.5(KAT6A):c.2835G>A (p.Glu945=) rs752022353 0.00001
NM_006766.5(KAT6A):c.2913T>C (p.Arg971=) rs201698734 0.00001
NM_006766.5(KAT6A):c.2943C>T (p.Leu981=) rs760485321 0.00001
NM_006766.5(KAT6A):c.3026C>T (p.Thr1009Met) rs750975358 0.00001
NM_006766.5(KAT6A):c.3285G>A (p.Arg1095=) rs746684762 0.00001
NM_006766.5(KAT6A):c.3327A>T (p.Glu1109Asp) rs1170676998 0.00001
NM_006766.5(KAT6A):c.3989A>G (p.Lys1330Arg) rs746406926 0.00001
NM_006766.5(KAT6A):c.4475A>G (p.Gln1492Arg) rs371143386 0.00001
NM_006766.5(KAT6A):c.458G>A (p.Arg153His) rs770241643 0.00001
NM_006766.5(KAT6A):c.4804A>G (p.Ser1602Gly) rs369072402 0.00001
NM_006766.5(KAT6A):c.5629C>T (p.Arg1877Cys) rs772414652 0.00001
NM_006766.5(KAT6A):c.5630G>A (p.Arg1877His) rs1308362424 0.00001
NM_006766.5(KAT6A):c.5666G>A (p.Arg1889His) rs1342950357 0.00001
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly) rs900174205 0.00001
NM_006766.5(KAT6A):c.661G>A (p.Glu221Lys) rs774910975 0.00001
NM_006766.5(KAT6A):c.1044-4T>G rs2486808111
NM_006766.5(KAT6A):c.1138_1139inv (p.Glu380Ser)
NM_006766.5(KAT6A):c.1445T>A (p.Met482Lys) rs138707191
NM_006766.5(KAT6A):c.1928A>G (p.Asn643Ser) rs1822412202
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006766.5(KAT6A):c.2366A>G (p.Glu789Gly) rs1017972143
NM_006766.5(KAT6A):c.2397C>T (p.Asn799=) rs773517227
NM_006766.5(KAT6A):c.2440G>A (p.Gly814Arg)
NM_006766.5(KAT6A):c.247C>T (p.Pro83Ser) rs1057518385
NM_006766.5(KAT6A):c.2604G>C (p.Trp868Cys) rs376546146
NM_006766.5(KAT6A):c.2806C>A (p.Pro936Thr) rs367785766
NM_006766.5(KAT6A):c.2829G>T (p.Gly943=) rs986552096
NM_006766.5(KAT6A):c.2849A>G (p.Gln950Arg) rs925928897
NM_006766.5(KAT6A):c.2869G>C (p.Ala957Pro) rs374802138
NM_006766.5(KAT6A):c.2914C>T (p.Arg972Cys) rs747389157
NM_006766.5(KAT6A):c.3235C>G (p.Leu1079Val) rs1320890633
NM_006766.5(KAT6A):c.3321AGA[2] (p.Glu1109del) rs3837198
NM_006766.5(KAT6A):c.3353-1G>A rs1351334408
NM_006766.5(KAT6A):c.3353-4A>G rs762302738
NM_006766.5(KAT6A):c.3576C>T (p.Ile1192=) rs61753682
NM_006766.5(KAT6A):c.3737G>T (p.Ser1246Ile)
NM_006766.5(KAT6A):c.3859GAG[2] (p.Glu1289del) rs747034971
NM_006766.5(KAT6A):c.441dup (p.Arg148fs) rs2487060716
NM_006766.5(KAT6A):c.451A>G (p.Ile151Val) rs137943524
NM_006766.5(KAT6A):c.4529C>T (p.Thr1510Ile) rs1281540872
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006766.5(KAT6A):c.4940AGC[5] (p.Gln1650dup) rs542184116
NM_006766.5(KAT6A):c.4953_4976del (p.Pro1652_Pro1659del) rs779701073
NM_006766.5(KAT6A):c.4953_5015del (p.Pro1655_Pro1675del) rs2486752965
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup) rs750049486
NM_006766.5(KAT6A):c.4993CAACCA[3] (p.Pro1668_Ala1669insGlnPro)
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006766.5(KAT6A):c.5111A>G (p.Gln1704Arg)
NM_006766.5(KAT6A):c.5195A>G (p.Tyr1732Cys) rs746899278
NM_006766.5(KAT6A):c.5361C>T (p.Ser1787=) rs749303336
NM_006766.5(KAT6A):c.5406G>T (p.Gly1802=) rs201149588
NM_006766.5(KAT6A):c.571G>T (p.Val191Leu) rs1057523324
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr) rs200651017
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006766.5(KAT6A):c.747G>A (p.Thr249=) rs771071033
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.