ClinVar Miner

Variants in gene KCNA5 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
199 7 0 9 15 0 2 25

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 uncertain significance likely benign benign
pathogenic 0 2 0 0
uncertain significance 2 0 13 3
likely benign 0 13 0 9
benign 0 3 9 0

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_002234.4(KCNA5):c.1150G>A (p.Gly384Arg) rs76708779
NM_002234.4(KCNA5):c.1497G>A (p.Leu499=) rs17221805
NM_002234.4(KCNA5):c.1539C>T (p.Pro513=) rs145832242
NM_002234.4(KCNA5):c.1580C>T (p.Thr527Met) rs121908591
NM_002234.4(KCNA5):c.1595C>T (p.Pro532Leu) rs17221812
NM_002234.4(KCNA5):c.1672G>A (p.Gly558Arg) rs201328038
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445
NM_002234.4(KCNA5):c.180G>A (p.Ala60=) rs376660949
NM_002234.4(KCNA5):c.186G>C (p.Ser62=)
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del) rs144879674
NM_002234.4(KCNA5):c.229C>T (p.Pro77Ser) rs202083721
NM_002234.4(KCNA5):c.251A>C (p.Glu84Ala) rs377036305
NM_002234.4(KCNA5):c.381C>T (p.Ser127=) rs45504599
NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys) rs202117321
NM_002234.4(KCNA5):c.570C>T (p.Asn190=) rs12720444
NM_002234.4(KCNA5):c.615G>C (p.Leu205=) rs12720443
NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp) rs35853292
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) rs77281462
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) rs12720442
NM_002234.4(KCNA5):c.797C>T (p.Thr266Ile) rs369750762
NM_002234.4(KCNA5):c.79G>A (p.Gly27Ser) rs201238766
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser) rs148708451
NM_002234.4(KCNA5):c.913G>A (p.Ala305Thr) rs199794307
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val) rs61737395

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