ClinVar Miner

Variants in gene PCDH19 with conflicting interpretations

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
285 34 0 21 14 0 6 35

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 3 1 1
likely pathogenic 3 0 4 0 0
uncertain significance 3 4 0 13 5
likely benign 1 0 13 0 18
benign 1 0 5 18 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NM_001105243.1(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001105243.1(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001105243.1(PCDH19):c.2655C>T (p.Asn885=) rs193148631
NM_001105243.1(PCDH19):c.2797C>T (p.Arg933Cys) rs3764758
NM_001105243.1(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001105243.1(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001105243.1(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001105243.1(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001184880.1(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.1(PCDH19):c.1209C>T (p.Ser403=) rs372006606
NM_001184880.1(PCDH19):c.1294A>G (p.Met432Val) rs200728466
NM_001184880.1(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718
NM_001184880.1(PCDH19):c.1353G>A (p.Pro451=) rs373795773
NM_001184880.1(PCDH19):c.1434C>T (p.Arg478=) rs137962077
NM_001184880.1(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.1(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.1(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.1(PCDH19):c.1968T>A (p.Ala656=) rs776150934
NM_001184880.1(PCDH19):c.2496C>T (p.Phe832=) rs774555485
NM_001184880.1(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653
NM_001184880.1(PCDH19):c.2965A>C (p.Asn989His) rs201611496
NM_001184880.1(PCDH19):c.3127A>G (p.Ile1043Val) rs189342249
NM_001184880.1(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.1(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.1(PCDH19):c.3412C>T (p.Pro1138Ser) rs778782448
NM_001184880.1(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033
NM_001184880.1(PCDH19):c.513C>T (p.Asn171=) rs749602848
NM_001184880.1(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.1(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001184880.1(PCDH19):c.697G>T (p.Asp233Tyr) rs1555985482
NM_001184880.1(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.1(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001184880.1(PCDH19):c.888C>T (p.Gly296=) rs368963363
NM_001184880.1(PCDH19):c.942G>A (p.Leu314=) rs773740606

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