ClinVar Miner

Variants in gene PCDH15 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 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
468 98 1 37 39 0 4 76

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 1 9 1 0 1
likely pathogenic 9 0 2 0 0
uncertain significance 1 2 0 23 21
likely benign 0 0 23 0 28
benign 1 0 21 28 0

All variants with conflicting interpretations #

Total variants: 76
Download table as spreadsheet
HGVS dbSNP
NM_001142763.1(PCDH15):c.1153G>A (p.Gly385Ser) rs10825269
NM_001142763.1(PCDH15):c.1278T>C (p.Thr426=) rs7921598
NM_001142763.1(PCDH15):c.4871A>G (p.Asn1624Ser) rs111033362
NM_001142763.1(PCDH15):c.5385_5394delTCCTCTTCCT (p.Pro1796Leufs) rs753690225
NM_001142771.1(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_001142771.1(PCDH15):c.4686G>A (p.Thr1562=) rs148772706
NM_001142771.1(PCDH15):c.4717C>T (p.Leu1573=) rs200155519
NM_001142772.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003
NM_033056.3(PCDH15):c.*12348A>G rs201855435
NM_033056.3(PCDH15):c.*12411C>T rs145418788
NM_033056.3(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
NM_033056.3(PCDH15):c.1360G>A (p.Val454Ile) rs61735473
NM_033056.3(PCDH15):c.1362C>T (p.Val454=) rs61735479
NM_033056.3(PCDH15):c.16delT (p.Tyr6Ilefs) rs397517451
NM_033056.3(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754
NM_033056.3(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.3(PCDH15):c.1998-2A>G rs397517452
NM_033056.3(PCDH15):c.2367_2369delTGT (p.Val790del) rs483352837
NM_033056.3(PCDH15):c.2419dupA (p.Ile807Asnfs) rs781148814
NM_033056.3(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.3(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.3(PCDH15):c.243G>A (p.Val81=) rs151119732
NM_033056.3(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.3(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.3(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342
NM_033056.3(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720
NM_033056.3(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033056.3(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.3(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.3(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.3(PCDH15):c.3195A>G (p.Gln1065=) rs776720353
NM_033056.3(PCDH15):c.330C>T (p.Asn110=) rs146796009
NM_033056.3(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.3(PCDH15):c.343G>A (p.Val115Met) rs143570915
NM_033056.3(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.3(PCDH15):c.3502-8C>T rs184144118
NM_033056.3(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286
NM_033056.3(PCDH15):c.3717+8G>C rs200556301
NM_033056.3(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
NM_033056.3(PCDH15):c.3936A>G (p.Ala1312=) rs398124433
NM_033056.3(PCDH15):c.3983+12T>C rs149867749
NM_033056.3(PCDH15):c.3984-1G>C rs1057520709
NM_033056.3(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_033056.3(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.3(PCDH15):c.4080G>A (p.Val1360=) rs111033499
NM_033056.3(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502
NM_033056.3(PCDH15):c.4581C>A (p.Pro1527=) rs10825114
NM_033056.3(PCDH15):c.4677G>A (p.Lys1559=) rs375077719
NM_033056.3(PCDH15):c.475-3C>T rs41304641
NM_033056.3(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461
NM_033056.3(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.3(PCDH15):c.4831_4834dupAACA (p.Thr1612Lysfs) rs545191822
NM_033056.3(PCDH15):c.4884T>C (p.Thr1628=) rs16937781
NM_033056.3(PCDH15):c.5254_5256delCCT (p.Pro1752del) rs397517462
NM_033056.3(PCDH15):c.5280_5342del63 (p.Ala1761_Pro1781del) rs1554820012
NM_033056.3(PCDH15):c.5283T>A (p.Ala1761=) rs375134176
NM_033056.3(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.3(PCDH15):c.5287_5292delGCTCCT (p.Ala1763_Pro1764del) rs397517465
NM_033056.3(PCDH15):c.5296_5304dupGCTCCTCCT (p.Pro1768_Pro1769insAlaProPro) rs397517466
NM_033056.3(PCDH15):c.5347_5363del17 (p.Pro1783Serfs) rs748086016
NM_033056.3(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647
NM_033056.3(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.3(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.3(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983
NM_033056.3(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636
NM_033056.3(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.3(PCDH15):c.5550C>A (p.Thr1850=) rs112097891
NM_033056.3(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.3(PCDH15):c.55T>G (p.Ser19Ala) rs11004439
NM_033056.3(PCDH15):c.5601_5603delAAC (p.Thr1869del) rs113363047
NM_033056.3(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346
NM_033056.3(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.3(PCDH15):c.706-8C>T rs10740579
NM_033056.3(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.3(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
NM_033056.3(PCDH15):c.960A>G (p.Pro320=) rs41274634

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