ClinVar Miner

Variants in gene GAN 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
392 23 0 6 8 0 8 19

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 1 6 0 0
likely pathogenic 1 0 1 1 0
uncertain significance 6 1 0 8 1
likely benign 0 1 8 0 5
benign 0 0 1 5 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_022041.3(GAN):c.1012A>T (p.Lys338Ter) rs1181977802
NM_022041.3(GAN):c.1017G>A (p.Gln339=) rs201451382
NM_022041.3(GAN):c.1162C>T (p.Leu388=) rs73589395
NM_022041.3(GAN):c.1182C>T (p.Tyr394=) rs150102659
NM_022041.3(GAN):c.1239C>T (p.Ile413=) rs61740238
NM_022041.3(GAN):c.1268T>C (p.Ile423Thr) rs119485091
NM_022041.3(GAN):c.1293C>T (p.Tyr431=) rs2608555
NM_022041.3(GAN):c.1323T>C (p.Tyr441=) rs368072478
NM_022041.3(GAN):c.1445C>T (p.Ala482Val) rs146576740
NM_022041.3(GAN):c.1502+1G>T rs1555511978
NM_022041.3(GAN):c.1518C>T (p.Asn506=) rs886052333
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022041.3(GAN):c.18_19insA (p.Val7fs) rs1597385624
NM_022041.3(GAN):c.413G>A (p.Arg138His) rs119485092
NM_022041.3(GAN):c.634-6C>T rs199874705
NM_022041.3(GAN):c.730A>G (p.Ile244Val) rs200749953
NM_022041.3(GAN):c.805C>T (p.Arg269Trp) rs776397915
NM_022041.3(GAN):c.851+1G>A rs747291494
NM_022041.3(GAN):c.877C>T (p.Arg293Ter) rs370358470

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