ClinVar Miner

Variants in gene PCCA 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
303 40 2 25 29 0 10 61

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 17 6 0 1
likely pathogenic 17 0 4 0 0
uncertain significance 6 4 0 23 9
likely benign 0 0 23 0 8
benign 1 0 9 8 1

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.2027del (p.Lys676fs) rs1555327702
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2041-2A>G rs776281864
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036
NM_000282.4(PCCA):c.2119-9A>G rs1389933015
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro) rs774457925
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130
NM_000282.4(PCCA):c.999G>A (p.Gly333=)

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