ClinVar Miner

Variants in gene G6PC1 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
211 19 0 25 8 0 2 32

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 20 1 0 0
likely pathogenic 20 0 2 0 0
uncertain significance 1 2 0 8 2
likely benign 0 0 8 0 5
benign 0 0 2 5 0

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197
NM_000151.4(G6PC1):c.136del (p.Leu46fs) rs1057517227
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) rs1057517008
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) rs764920787
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC1):c.231-1G>A rs1555559279
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.562+10G>A rs199505156
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258

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