ClinVar Miner

Variants in gene PCSK9 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 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
616 33 0 34 43 3 25 82

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 association
pathogenic 0 4 18 4 7 0
likely pathogenic 4 0 4 0 0 0
uncertain significance 18 4 0 29 19 0
likely benign 4 0 29 0 30 2
benign 7 0 19 30 0 2
association 0 0 0 2 2 0

All variants with conflicting interpretations #

Total variants: 82
Download table as spreadsheet
NM_174936.3(PCSK9):c.-861G>A rs2479409
NM_174936.3(PCSK9):c.-8T>C rs886039837
NM_174936.3(PCSK9):c.1026A>G (p.Gln342=) rs509504
NM_174936.3(PCSK9):c.10G>A (p.Val4Ile) rs186669805
NM_174936.3(PCSK9):c.1119C>T (p.Ser373=) rs139683719
NM_174936.3(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.3(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.3(PCSK9):c.1227C>T (p.Ala409=) rs146924245
NM_174936.3(PCSK9):c.1251C>A (p.His417Gln) rs143275858
NM_174936.3(PCSK9):c.1270A>G (p.Ile424Val) rs759250273
NM_174936.3(PCSK9):c.1326C>T (p.Ala442=) rs28362262
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.3(PCSK9):c.1354+9G>T rs72646516
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.3(PCSK9):c.142G>A (p.Glu48Lys) rs1278890129
NM_174936.3(PCSK9):c.1431C>T (p.Cys477=) rs28362268
NM_174936.3(PCSK9):c.1432G>A (p.Ala478Thr) rs375582388
NM_174936.3(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564
NM_174936.3(PCSK9):c.1503+20GT[17] rs35115360
NM_174936.3(PCSK9):c.1503+20GT[19] rs35115360
NM_174936.3(PCSK9):c.1503+20GT[20] rs35115360
NM_174936.3(PCSK9):c.1503G>A (p.Glu501=) rs986151799
NM_174936.3(PCSK9):c.1560C>T (p.Val520=) rs542863545
NM_174936.3(PCSK9):c.158C>G (p.Ala53Gly) rs11583680
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.3(PCSK9):c.1658A>G (p.His553Arg)
NM_174936.3(PCSK9):c.1660C>G (p.Gln554Glu)
NM_174936.3(PCSK9):c.169G>A (p.Glu57Lys) rs145886902
NM_174936.3(PCSK9):c.1773C>G (p.His591Gln) rs529912877
NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.3(PCSK9):c.1863+6G>A rs568853401
NM_174936.3(PCSK9):c.1864-13C>T rs147470944
NM_174936.3(PCSK9):c.1869C>T (p.Thr623=) rs28362285
NM_174936.3(PCSK9):c.1878C>T (p.Cys626=) rs199815786
NM_174936.3(PCSK9):c.1929C>T (p.His643=) rs145770391
NM_174936.3(PCSK9):c.1944C>T (p.Tyr648=) rs138178437
NM_174936.3(PCSK9):c.1979A>C (p.Asp660Ala)
NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu)
NM_174936.3(PCSK9):c.2023G>A (p.Val675Ile) rs760981278
NM_174936.3(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286
NM_174936.3(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352
NM_174936.3(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.3(PCSK9):c.277C>T (p.Arg93Cys) rs151193009
NM_174936.3(PCSK9):c.286C>T (p.Arg96Cys) rs185392267
NM_174936.3(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_174936.3(PCSK9):c.336G>A (p.Leu112=) rs79805678
NM_174936.3(PCSK9):c.381T>A (p.Ser127Arg) rs28942111
NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn)
NM_174936.3(PCSK9):c.399+4A>G rs376653409
NM_174936.3(PCSK9):c.426C>G (p.Tyr142Ter) rs67608943
NM_174936.3(PCSK9):c.525C>T (p.Asp175=) rs148612296
NM_174936.3(PCSK9):c.609C>T (p.Thr203=) rs200856421
NM_174936.3(PCSK9):c.616G>A (p.Glu206Lys) rs753857795
NM_174936.3(PCSK9):c.627C>T (p.Pro209=) rs375892354
NM_174936.3(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_174936.3(PCSK9):c.657+9G>A rs11800243
NM_174936.3(PCSK9):c.658G>A (p.Ala220Thr) rs768795323
NM_174936.3(PCSK9):c.705C>T (p.Ser235=) rs7552471
NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp) rs148195424
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.753C>T (p.Arg251=) rs28385710
NM_174936.3(PCSK9):c.791C>T (p.Thr264Ile) rs201789841
NM_174936.3(PCSK9):c.799+8A>G rs748933873
NM_174936.3(PCSK9):c.835C>A (p.Pro279Thr) rs72646509
NM_174936.3(PCSK9):c.847C>A (p.Leu283Met) rs72646510
NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys)
NM_174936.3(PCSK9):c.996+8del rs768213924
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) rs141867978
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=)
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.1399C>G rs772677312
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.523G>A (p.Asp175Asn)
NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn) rs793888521

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