ClinVar Miner

Variants in gene PTCH1 with conflicting interpretations

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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
1904 62 5 22 25 0 4 51

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 4 3 0 1
likely pathogenic 4 0 1 0 0
uncertain significance 3 1 1 23 3
likely benign 0 0 23 0 18
benign 1 0 3 18 4

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP
NM_000264.5(PTCH1):c.-24_-22GGC[5] rs71366293
NM_000264.5(PTCH1):c.-24_-22GGC[6] rs71366293
NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn) rs779294007
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val) rs143494325
NM_000264.5(PTCH1):c.114del (p.Leu39fs) rs751977093
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr) rs199476091
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954
NM_000264.5(PTCH1):c.1322G>A (p.Arg441His) rs767273237
NM_000264.5(PTCH1):c.1348-4G>A rs772826555
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=) rs766039170
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser) rs181192122
NM_000264.5(PTCH1):c.1710G>T (p.Leu570=) rs374924167
NM_000264.5(PTCH1):c.2634C>T (p.Asp878=) rs771732591
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222
NM_000264.5(PTCH1):c.2692G>A (p.Asp898Asn) rs531947455
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=) rs755755175
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275
NM_000264.5(PTCH1):c.3192G>A (p.Thr1064=) rs751797047
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=) rs756638660
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405
NM_000264.5(PTCH1):c.3624C>A (p.Ala1208=) rs149691476
NM_000264.5(PTCH1):c.3648C>T (p.Ser1216=) rs377608291
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) rs779791579
NM_000264.5(PTCH1):c.3805-9C>T rs2236404
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412
NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys) rs56102979
NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His) rs779365332
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171
NM_000264.5(PTCH1):c.395-1G>A rs368869806
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys) rs375998275
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys) rs556901417
NM_000264.5(PTCH1):c.407dup (p.Ser137fs) rs1564063386
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser) rs56161606
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271
NM_000264.5(PTCH1):c.63C>T (p.Ile21=) rs1284183739
NM_000264.5(PTCH1):c.777C>T (p.Phe259=) rs750313305
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759

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