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 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
1120 120 1 43 35 0 2 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 7 1 0 0
likely pathogenic 7 0 1 0 0
uncertain significance 1 1 0 32 8
likely benign 0 0 32 0 36
benign 0 0 8 36 0

All variants with conflicting interpretations #

Total variants: 76
Download table as spreadsheet
HGVS dbSNP
NM_001142771.2(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_001142771.2(PCDH15):c.4686G>A (p.Thr1562=) rs148772706
NM_001142771.2(PCDH15):c.4717C>T (p.Leu1573=) rs200155519
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4368-2209_4368-2204del rs397517465
NM_001384140.1(PCDH15):c.4368-2227_4368-2219del rs727503363
NM_001384140.1(PCDH15):c.4368-2251CCT[3] rs397517462
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del) rs561144747
NM_001384140.1(PCDH15):c.4671+1046A>G rs201855435
NM_001384140.1(PCDH15):c.4671+1109C>T rs145418788
NM_033056.4(PCDH15):c.1028G>A (p.Arg343Lys) rs141169746
NM_033056.4(PCDH15):c.1181A>G (p.Tyr394Cys) rs148533341
NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164
NM_033056.4(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620
NM_033056.4(PCDH15):c.1362C>T (p.Val454=) rs61735479
NM_033056.4(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754
NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.4(PCDH15):c.1997+1G>A rs763797356
NM_033056.4(PCDH15):c.1998-2A>G rs397517452
NM_033056.4(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.243G>A (p.Val81=) rs151119732
NM_033056.4(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.4(PCDH15):c.2619A>G (p.Glu873=) rs150784450
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.4(PCDH15):c.3009+7G>A rs201161336
NM_033056.4(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.4(PCDH15):c.330C>T (p.Asn110=) rs146796009
NM_033056.4(PCDH15):c.343G>A (p.Val115Met) rs143570915
NM_033056.4(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.4(PCDH15):c.3502-10del rs750835578
NM_033056.4(PCDH15):c.3502-8C>T rs184144118
NM_033056.4(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286
NM_033056.4(PCDH15):c.3699C>T (p.Ser1233=) rs774857947
NM_033056.4(PCDH15):c.3717+8G>C rs200556301
NM_033056.4(PCDH15):c.3724G>A (p.Val1242Met) rs201137087
NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363
NM_033056.4(PCDH15):c.3877C>A (p.Arg1293=) rs142034111
NM_033056.4(PCDH15):c.3936A>G (p.Ala1312=) rs398124433
NM_033056.4(PCDH15):c.3983+1G>T rs758921360
NM_033056.4(PCDH15):c.400C>T (p.Arg134Ter) rs137853003
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4320G>A (p.Pro1440=) rs12246234
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663
NM_033056.4(PCDH15):c.4463A>G (p.Asn1488Ser) rs201534861
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=) rs727504070
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=) rs375077719
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu) rs200659780
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=) rs16937781
NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys)
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn) rs727503364
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del) rs1554820012
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
NM_033056.4(PCDH15):c.913C>G (p.Gln305Glu) rs143058902
NM_033056.4(PCDH15):c.942A>G (p.Gln314=) rs149481989
NM_033056.4(PCDH15):c.949T>A (p.Ser317Thr) rs140736502

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