ClinVar Miner

Variants in gene KCNMA1 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 Variants with at least 2 submissions 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 kind of conflict
141 14 0 18 14 0 1 27

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 1 0 0
uncertain significance 1 0 13 7
likely benign 0 13 0 18
benign 0 7 18 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_001014797.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383
NM_002247.3(KCNMA1):c.1218A>G (p.Gly406=) rs755284666
NM_002247.3(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_002247.3(KCNMA1):c.135_137delCTC (p.Ser60del) rs572827902
NM_002247.3(KCNMA1):c.135_137dupCTC (p.Ser60_Val61insSer) rs572827902
NM_002247.3(KCNMA1):c.153_155delTTC (p.Ser60del) rs751901610
NM_002247.3(KCNMA1):c.1578G>T (p.Leu526=) rs74140280
NM_002247.3(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) rs780558929
NM_002247.3(KCNMA1):c.162_173delCTCTTCCTCCTC (p.Ser57_Ser60del) rs754606765
NM_002247.3(KCNMA1):c.1680C>A (p.Ala560=) rs2229008
NM_002247.3(KCNMA1):c.2015+7G>A rs78670694
NM_002247.3(KCNMA1):c.2217T>C (p.Asp739=) rs77280228
NM_002247.3(KCNMA1):c.2352C>T (p.Val784=) rs41274568
NM_002247.3(KCNMA1):c.2373C>T (p.Asp791=) rs147369374
NM_002247.3(KCNMA1):c.2391C>T (p.Ile797=) rs2229009
NM_002247.3(KCNMA1):c.2536-8T>C rs78672251
NM_002247.3(KCNMA1):c.2877C>T (p.Asp959=) rs115772068
NM_002247.3(KCNMA1):c.2984A>G (p.Asn995Ser) rs886039469
NM_002247.3(KCNMA1):c.3021C>T (p.Thr1007=) rs45527834
NM_002247.3(KCNMA1):c.3066C>T (p.Asn1022=) rs45586138
NM_002247.3(KCNMA1):c.3333G>A (p.Thr1111=) rs201721843
NM_002247.3(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559
NM_002247.3(KCNMA1):c.414G>A (p.Ala138=) rs61736948
NM_002247.3(KCNMA1):c.54_56dup (p.Gly20_Ser21insGly) rs760628050
NM_002247.3(KCNMA1):c.687C>T (p.Phe229=) rs1131824
NM_002247.3(KCNMA1):c.90C>T (p.His30=) rs75040504
NM_002247.3(KCNMA1):c.945C>T (p.Ala315=) rs79713097

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