ClinVar Miner

Variants in gene PYGM 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
401 50 0 27 35 0 4 58

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 14 2 0 1
likely pathogenic 14 0 2 0 0
uncertain significance 2 2 0 32 11
likely benign 0 0 32 0 13
benign 1 0 11 13 0

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672
NM_005609.4(PYGM):c.1239+8C>T rs886048461
NM_005609.4(PYGM):c.1239+9G>A rs374937711
NM_005609.4(PYGM):c.1266C>T (p.Asp422=) rs769602726
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.1621-19del rs571976523
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255
NM_005609.4(PYGM):c.1769-7T>C
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869
NM_005609.4(PYGM):c.2082C>T (p.Asp694=) rs773543072
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2177+7G>A rs201366697
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=) rs140102591
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) rs199927544
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) rs1057517145
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.256C>T (p.Leu86=) rs541817643
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918
NM_005609.4(PYGM):c.425-26A>G rs764313717
NM_005609.4(PYGM):c.540C>T (p.Ala180=) rs148731983
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937
NM_005609.4(PYGM):c.63C>T (p.Gly21=) rs368124628
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186
NM_005609.4(PYGM):c.951C>T (p.Phe317=) rs71581789
NM_005609.4(PYGM):c.999+20C>T rs201711087
NM_005609.4(PYGM):c.999+9C>T rs183026465

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