ClinVar Miner

Variants with conflicting interpretations studied for Gorlin syndrome

Coded as:
Minimum review status of the submission for Gorlin syndrome: Y axis collection method of the submission for Gorlin syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
744 197 6 64 64 0 12 128

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.

All conditions
Gorlin syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 3 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 2 5 4 40 5
likely benign 3 0 27 0 29
benign 2 1 12 59 2

Condition to condition summary #

Total conditions: 13
Download table as spreadsheet
Condition 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
Hereditary cancer-predisposing syndrome 0 101 0 45 29 0 2 74
not specified 0 35 0 42 20 0 0 60
Gorlin syndrome 1011 14 0 29 14 0 2 44
Holoprosencephaly sequence 0 68 0 27 14 0 0 41
not provided 0 24 6 17 16 0 0 35
Holoprosencephaly 7 0 0 0 0 0 0 4 4
Anophthalmia - microphthalmia 0 0 0 1 0 0 2 3
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged 0 0 0 0 1 0 0 1
Hepatoblastoma 0 0 0 0 1 0 0 1
Hirschsprung disease 1 0 0 0 0 1 0 0 1
Irido-corneo-trabecular dysgenesis; Rieger syndrome 0 0 0 0 0 0 1 1
Medulloblastoma 0 1 0 1 0 0 0 1
Rieger syndrome 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 128
Download table as spreadsheet
HGVS dbSNP
NM_000264.3(PTCH1):c.1177G>A (p.Ala393Thr) rs199476091
NM_000264.3(PTCH1):c.2183C>T (p.Thr728Met) rs115556836
NM_000264.3(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092
NM_000264.3(PTCH1):c.2560+8G>A rs201541845
NM_000264.3(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275
NM_000264.3(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.3(PTCH1):c.395-1G>A rs368869806
NM_000264.4(PTCH1):c.-12_-4delGGCGGCGGC rs71366293
NM_000264.4(PTCH1):c.-15_-4delGGCGGCGGCGGC rs71366293
NM_000264.4(PTCH1):c.-6_-4delGGC rs71366293
NM_000264.4(PTCH1):c.-6_-4dup rs71366293
NM_000264.4(PTCH1):c.1067+5G>C rs372657547
NM_000264.4(PTCH1):c.1074T>C (p.His358=) rs2066832
NM_000264.4(PTCH1):c.109G>C (p.Gly37Arg) rs199976372
NM_000264.4(PTCH1):c.1119C>T (p.Tyr373=) rs2066831
NM_000264.4(PTCH1):c.1137C>T (p.Tyr379=) rs587780690
NM_000264.4(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_000264.4(PTCH1):c.113G>T (p.Gly38Val) rs143494325
NM_000264.4(PTCH1):c.1183A>G (p.Ile395Val) rs139498131
NM_000264.4(PTCH1):c.1216-6C>A rs186008764
NM_000264.4(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759
NM_000264.4(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954
NM_000264.4(PTCH1):c.1308C>A (p.Asp436Glu) rs148471237
NM_000264.4(PTCH1):c.1348-4G>A rs772826555
NM_000264.4(PTCH1):c.1503+1G>C rs864622293
NM_000264.4(PTCH1):c.1504-8T>C rs2277184
NM_000264.4(PTCH1):c.1526G>A (p.Gly509Asp) rs1060502268
NM_000264.4(PTCH1):c.1641C>T (p.Ser547=) rs2066830
NM_000264.4(PTCH1):c.1653G>A (p.Thr551=) rs766039170
NM_000264.4(PTCH1):c.1661G>A (p.Ser554Asn) rs148367880
NM_000264.4(PTCH1):c.1665T>C (p.Asn555=) rs1805155
NM_000264.4(PTCH1):c.1686C>T (p.Ala562=) rs2066836
NM_000264.4(PTCH1):c.1710G>T (p.Leu570=) rs374924167
NM_000264.4(PTCH1):c.1808G>A (p.Arg603His) rs199523893
NM_000264.4(PTCH1):c.1809C>T (p.Arg603=) rs145690756
NM_000264.4(PTCH1):c.1847+14C>T rs202007968
NM_000264.4(PTCH1):c.1854C>T (p.Cys618=) rs62637628
NM_000264.4(PTCH1):c.1913G>A (p.Arg638His) rs145766839
NM_000264.4(PTCH1):c.2004C>T (p.Tyr668=) rs151216961
NM_000264.4(PTCH1):c.2044C>T (p.Arg682Cys) rs570441437
NM_000264.4(PTCH1):c.204G>T (p.Gly68=) rs547930654
NM_000264.4(PTCH1):c.2050G>A (p.Glu684Lys) rs62637629
NM_000264.4(PTCH1):c.2105C>G (p.Pro702Arg) rs368362152
NM_000264.4(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400
NM_000264.4(PTCH1):c.2176C>T (p.Pro726Ser) rs758811078
NM_000264.4(PTCH1):c.2177C>G (p.Pro726Arg) rs587780697
NM_000264.4(PTCH1):c.2184G>A (p.Thr728=) rs201103723
NM_000264.4(PTCH1):c.2199A>G (p.Ser733=) rs2227970
NM_000264.4(PTCH1):c.2222C>T (p.Ala741Val) rs2227971
NM_000264.4(PTCH1):c.2270T>C (p.Phe757Ser) rs547954117
NM_000264.4(PTCH1):c.2304C>T (p.Thr768=) rs1805156
NM_000264.4(PTCH1):c.2437C>G (p.Pro813Ala) rs45579032
NM_000264.4(PTCH1):c.2460C>T (p.Tyr820=) rs766227557
NM_000264.4(PTCH1):c.2484C>T (p.Asn828=) rs143305989
NM_000264.4(PTCH1):c.2485G>A (p.Val829Met) rs201125580
NM_000264.4(PTCH1):c.2560+7C>T rs75576651
NM_000264.4(PTCH1):c.2595C>T (p.Thr865=) rs144512837
NM_000264.4(PTCH1):c.2678G>A (p.Arg893His) rs138154222
NM_000264.4(PTCH1):c.2680G>A (p.Asp894Asn) rs56173896
NM_000264.4(PTCH1):c.2692G>A (p.Asp898Asn) rs531947455
NM_000264.4(PTCH1):c.2787C>T (p.Asn929=) rs145196322
NM_000264.4(PTCH1):c.2799G>A (p.Ala933=) rs111446700
NM_000264.4(PTCH1):c.2834G>A (p.Arg945Gln) rs201118857
NM_000264.4(PTCH1):c.2887+10G>A rs202081420
NM_000264.4(PTCH1):c.2888-8C>T rs567994836
NM_000264.4(PTCH1):c.2892G>A (p.Pro964=) rs377213209
NM_000264.4(PTCH1):c.2913T>C (p.Tyr971=) rs2229062
NM_000264.4(PTCH1):c.2937C>T (p.Asn979=) rs58629309
NM_000264.4(PTCH1):c.297C>T (p.Gly99=) rs772407797
NM_000264.4(PTCH1):c.3005C>T (p.Thr1002Met) rs769924767
NM_000264.4(PTCH1):c.3141T>G (p.Leu1047=) rs2066835
NM_000264.4(PTCH1):c.3150C>T (p.Pro1050=) rs149398794
NM_000264.4(PTCH1):c.3169-5T>C rs367654039
NM_000264.4(PTCH1):c.318C>T (p.Leu106=) rs1805153
NM_000264.4(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828
NM_000264.4(PTCH1):c.3240C>T (p.Ala1080=) rs200347952
NM_000264.4(PTCH1):c.3241G>A (p.Val1081Met) rs587778629
NM_000264.4(PTCH1):c.3247G>A (p.Val1083Met) rs202052415
NM_000264.4(PTCH1):c.324A>G (p.Ile108Met) rs144182921
NM_000264.4(PTCH1):c.3387C>T (p.Gly1129=) rs28446339
NM_000264.4(PTCH1):c.3423G>A (p.Ala1141=) rs745948150
NM_000264.4(PTCH1):c.3435C>T (p.Phe1145=) rs200435277
NM_000264.4(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584
NM_000264.4(PTCH1):c.3567C>T (p.Gly1189=) rs62637630
NM_000264.4(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405
NM_000264.4(PTCH1):c.3606C>T (p.Pro1202=) rs138240178
NM_000264.4(PTCH1):c.3617G>A (p.Arg1206His) rs560967532
NM_000264.4(PTCH1):c.3622G>A (p.Ala1208Thr) rs945517672
NM_000264.4(PTCH1):c.3624C>A (p.Ala1208=) rs149691476
NM_000264.4(PTCH1):c.3624C>T (p.Ala1208=) rs149691476
NM_000264.4(PTCH1):c.3633C>G (p.Pro1211=) rs56007343
NM_000264.4(PTCH1):c.3669G>A (p.Ser1223=) rs780515178
NM_000264.4(PTCH1):c.3687G>A (p.Thr1229=) rs139123130
NM_000264.4(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135
NM_000264.4(PTCH1):c.3805-9C>T rs2236404
NM_000264.4(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968
NM_000264.4(PTCH1):c.3889C>T (p.Arg1297Trp) rs372027952
NM_000264.4(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412
NM_000264.4(PTCH1):c.3907C>T (p.Arg1303Cys) rs56102979
NM_000264.4(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171
NM_000264.4(PTCH1):c.3954G>A (p.Pro1318=) rs45529536
NM_000264.4(PTCH1):c.3963C>T (p.Asp1321=) rs139071993
NM_000264.4(PTCH1):c.3992C>G (p.Ser1331Cys) rs150373546
NM_000264.4(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952
NM_000264.4(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636
NM_000264.4(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000264.4(PTCH1):c.4087G>A (p.Gly1363Ser) rs767625820
NM_000264.4(PTCH1):c.4116G>A (p.Thr1372=) rs776937004
NM_000264.4(PTCH1):c.4128C>T (p.Ser1376=) rs142148876
NM_000264.4(PTCH1):c.4141G>A (p.Val1381Met) rs187104739
NM_000264.4(PTCH1):c.4148C>T (p.Pro1383Leu) rs571030658
NM_000264.4(PTCH1):c.4152G>A (p.Pro1384=) rs761887390
NM_000264.4(PTCH1):c.4171C>T (p.Arg1391Trp) rs45535032
NM_000264.4(PTCH1):c.4172G>A (p.Arg1391Gln) rs773676486
NM_000264.4(PTCH1):c.4219G>A (p.Gly1407Ser) rs56161606
NM_000264.4(PTCH1):c.4240G>A (p.Val1414Met) rs149667902
NM_000264.4(PTCH1):c.4252G>A (p.Val1418Ile) rs369882883
NM_000264.4(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326
NM_000264.4(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271
NM_000264.4(PTCH1):c.468A>G (p.Gln156=) rs200729445
NM_000264.4(PTCH1):c.567T>C (p.His189=) rs150759973
NM_000264.4(PTCH1):c.735A>G (p.Thr245=) rs1805154
NM_000264.4(PTCH1):c.764G>A (p.Arg255Gln) rs779870576
NM_000264.4(PTCH1):c.884C>T (p.Pro295Leu) rs370755364
NM_000264.4(PTCH1):c.897G>A (p.Pro299=) rs56141639
NM_001083607.2(PTCH1):c.869G>A (p.Arg290His) rs767273237
NM_001166292.1(PTCH2):c.1172_1173delCT (p.Ser391Terfs) rs56126236
NM_001166292.1(PTCH2):c.1864C>A (p.His622Asn) rs11573586

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