ClinVar Miner

Variants in gene PTCH1 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 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
958 186 8 57 55 0 12 116

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 3 4 2 0
likely pathogenic 3 0 7 2 1
uncertain significance 4 7 5 54 11
likely benign 2 2 54 0 54
benign 0 1 11 54 3

All variants with conflicting interpretations #

Total variants: 116
Download table as spreadsheet
HGVS dbSNP
NM_001083602.2(PTCH1):c.1018-6C>A rs186008764
NM_001083602.2(PTCH1):c.1036G>T (p.Ala346Ser) rs370354759
NM_001083602.2(PTCH1):c.1108G>A (p.Asp370Asn) rs142274954
NM_001083602.2(PTCH1):c.1110C>A (p.Asp370Glu) rs148471237
NM_001083602.2(PTCH1):c.1124G>A (p.Arg375His) rs767273237
NM_001083602.2(PTCH1):c.1150-4G>A rs772826555
NM_001083602.2(PTCH1):c.120C>T (p.Leu40=) rs1805153
NM_001083602.2(PTCH1):c.126A>G (p.Ile42Met) rs144182921
NM_001083602.2(PTCH1):c.1305+1G>C rs864622293
NM_001083602.2(PTCH1):c.1305+3A>G rs878853846
NM_001083602.2(PTCH1):c.1306-8T>C rs2277184
NM_001083602.2(PTCH1):c.1328G>A (p.Gly443Asp) rs1060502268
NM_001083602.2(PTCH1):c.1443C>T (p.Ser481=) rs2066830
NM_001083602.2(PTCH1):c.1455G>A (p.Thr485=) rs766039170
NM_001083602.2(PTCH1):c.1463G>A (p.Ser488Asn) rs148367880
NM_001083602.2(PTCH1):c.1467T>C (p.Asn489=) rs1805155
NM_001083602.2(PTCH1):c.1488C>T (p.Ala496=) rs2066836
NM_001083602.2(PTCH1):c.1512G>T (p.Leu504=) rs374924167
NM_001083602.2(PTCH1):c.197-1G>A rs368869806
NM_001083602.2(PTCH1):c.2397C>T (p.Thr799=) rs144512837
NM_001083602.2(PTCH1):c.2436C>T (p.Asp812=) rs771732591
NM_001083602.2(PTCH1):c.2480G>A (p.Arg827His) rs138154222
NM_001083602.2(PTCH1):c.2482G>A (p.Asp828Asn) rs56173896
NM_001083602.2(PTCH1):c.2494G>A (p.Asp832Asn) rs531947455
NM_001083602.2(PTCH1):c.2497A>G (p.Ile833Val) rs765371196
NM_001083602.2(PTCH1):c.2589C>T (p.Asn863=) rs145196322
NM_001083602.2(PTCH1):c.2601G>A (p.Ala867=) rs111446700
NM_001083602.2(PTCH1):c.2636G>A (p.Arg879Gln) rs201118857
NM_001083602.2(PTCH1):c.2689+10G>A rs202081420
NM_001083602.2(PTCH1):c.2690-8C>T rs567994836
NM_001083602.2(PTCH1):c.2694G>A (p.Pro898=) rs377213209
NM_001083602.2(PTCH1):c.270A>G (p.Gln90=) rs200729445
NM_001083602.2(PTCH1):c.2715T>C (p.Tyr905=) rs2229062
NM_001083602.2(PTCH1):c.2739C>T (p.Asn913=) rs58629309
NM_001083602.2(PTCH1):c.2807C>T (p.Thr936Met) rs769924767
NM_001083602.2(PTCH1):c.2943T>G (p.Leu981=) rs2066835
NM_001083602.2(PTCH1):c.2952C>T (p.Pro984=) rs149398794
NM_001083602.2(PTCH1):c.2957C>T (p.Thr986Met) rs138911275
NM_001083602.2(PTCH1):c.2971-5T>C rs367654039
NM_001083602.2(PTCH1):c.2993C>T (p.Thr998Met) rs368417828
NM_001083602.2(PTCH1):c.3042C>T (p.Ala1014=) rs200347952
NM_001083602.2(PTCH1):c.3043G>A (p.Val1015Met) rs587778629
NM_001083602.2(PTCH1):c.3049G>A (p.Val1017Met) rs202052415
NM_001083602.2(PTCH1):c.3109-4A>C rs1554690494
NM_001083602.2(PTCH1):c.3178G>A (p.Val1060Ile) rs147025073
NM_001083602.2(PTCH1):c.3189C>T (p.Gly1063=) rs28446339
NM_001083602.2(PTCH1):c.3225G>A (p.Ala1075=) rs745948150
NM_001083602.2(PTCH1):c.3237C>T (p.Phe1079=) rs200435277
NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) rs113663584
NM_001083602.2(PTCH1):c.3369C>T (p.Gly1123=) rs62637630
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083602.2(PTCH1):c.3408C>T (p.Pro1136=) rs138240178
NM_001083602.2(PTCH1):c.3419G>A (p.Arg1140His) rs560967532
NM_001083602.2(PTCH1):c.3424G>A (p.Ala1142Thr) rs945517672
NM_001083602.2(PTCH1):c.3426C>A (p.Ala1142=) rs149691476
NM_001083602.2(PTCH1):c.3426C>T (p.Ala1142=) rs149691476
NM_001083602.2(PTCH1):c.3435C>G (p.Pro1145=) rs56007343
NM_001083602.2(PTCH1):c.3471G>A (p.Ser1157=) rs780515178
NM_001083602.2(PTCH1):c.3489G>A (p.Thr1163=) rs139123130
NM_001083602.2(PTCH1):c.3494T>C (p.Val1165Ala) rs182045135
NM_001083602.2(PTCH1):c.3607-9C>T rs2236404
NM_001083602.2(PTCH1):c.3647C>T (p.Pro1216Leu) rs2227968
NM_001083602.2(PTCH1):c.3691C>T (p.Arg1231Trp) rs372027952
NM_001083602.2(PTCH1):c.3692G>A (p.Arg1231Gln) rs386833412
NM_001083602.2(PTCH1):c.369T>C (p.His123=) rs150759973
NM_001083602.2(PTCH1):c.3709C>T (p.Arg1237Cys) rs56102979
NM_001083602.2(PTCH1):c.3721C>T (p.Pro1241Ser) rs574880967
NM_001083602.2(PTCH1):c.3746C>T (p.Pro1249Leu) rs357564
NM_001083602.2(PTCH1):c.3749A>G (p.Tyr1250Cys) rs147067171
NM_001083602.2(PTCH1):c.3755C>T (p.Pro1252Leu) rs536440590
NM_001083602.2(PTCH1):c.3756G>A (p.Pro1252=) rs45529536
NM_001083602.2(PTCH1):c.3765C>T (p.Asp1255=) rs139071993
NM_001083602.2(PTCH1):c.3794C>G (p.Ser1265Cys) rs150373546
NM_001083602.2(PTCH1):c.3822C>T (p.Gly1274=) rs773564643
NM_001083602.2(PTCH1):c.3829G>A (p.Gly1277Arg) rs200100952
NM_001083602.2(PTCH1):c.3850C>T (p.Arg1284Trp) rs140417636
NM_001083602.2(PTCH1):c.3852G>A (p.Arg1284=) rs748440992
NM_001083602.2(PTCH1):c.3882C>T (p.Ser1294=) rs62637631
NM_001083602.2(PTCH1):c.3889G>A (p.Gly1297Ser) rs767625820
NM_001083602.2(PTCH1):c.3918G>A (p.Thr1306=) rs776937004
NM_001083602.2(PTCH1):c.3930C>T (p.Ser1310=) rs142148876
NM_001083602.2(PTCH1):c.3943G>A (p.Val1315Met) rs187104739
NM_001083602.2(PTCH1):c.3950C>T (p.Pro1317Leu) rs571030658
NM_001083602.2(PTCH1):c.3954G>A (p.Pro1318=) rs761887390
NM_001083602.2(PTCH1):c.3973C>T (p.Arg1325Trp) rs45535032
NM_001083602.2(PTCH1):c.3974G>A (p.Arg1325Gln) rs773676486
NM_001083602.2(PTCH1):c.4-1638C>G rs1030446889
NM_001083602.2(PTCH1):c.4-1649del rs751977093
NM_001083602.2(PTCH1):c.4-1650G>A rs143494325
NM_001083602.2(PTCH1):c.4-1650G>T rs143494325
NM_001083602.2(PTCH1):c.4-1654G>C rs199976372
NM_001083602.2(PTCH1):c.4-1708G>A rs778460384
NM_001083602.2(PTCH1):c.4-1726C>G rs779791579
NM_001083602.2(PTCH1):c.4-1786GGC[3] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[4] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[5] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[6] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[8] rs71366293
NM_001083602.2(PTCH1):c.4021G>A (p.Gly1341Ser) rs56161606
NM_001083602.2(PTCH1):c.4042G>A (p.Val1348Met) rs149667902
NM_001083602.2(PTCH1):c.4054G>A (p.Val1352Ile) rs369882883
NM_001083602.2(PTCH1):c.4126C>T (p.Arg1376Trp) rs143464326
NM_001083602.2(PTCH1):c.4127G>A (p.Arg1376Gln) rs56023271
NM_001083602.2(PTCH1):c.537A>G (p.Thr179=) rs1805154
NM_001083602.2(PTCH1):c.566G>A (p.Arg189Gln) rs779870576
NM_001083602.2(PTCH1):c.686C>T (p.Pro229Leu) rs370755364
NM_001083602.2(PTCH1):c.699G>A (p.Pro233=) rs56141639
NM_001083602.2(PTCH1):c.6G>T (p.Gly2=) rs547930654
NM_001083602.2(PTCH1):c.869+5G>C rs372657547
NM_001083602.2(PTCH1):c.876T>C (p.His292=) rs2066832
NM_001083602.2(PTCH1):c.921C>T (p.Tyr307=) rs2066831
NM_001083602.2(PTCH1):c.939C>T (p.Tyr313=) rs587780690
NM_001083602.2(PTCH1):c.979G>A (p.Ala327Thr) rs199476091
NM_001083602.2(PTCH1):c.985A>G (p.Ile329Val) rs139498131
NM_001083602.2(PTCH1):c.99C>T (p.Gly33=) rs772407797
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759

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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.