ClinVar Miner

Variants in gene BCKDHB 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
166 16 3 19 4 0 8 29

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 3 14 4 0 0
likely pathogenic 14 0 5 0 0
uncertain significance 4 5 0 4 1
likely benign 0 0 4 0 5
benign 0 0 1 5 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_183050.2(BCKDHB):c.1022T>A (p.Ile341Asn) rs796051939
NM_183050.2(BCKDHB):c.275-2A>G rs1554184224
NM_183050.2(BCKDHB):c.33_34delAC (p.Leu12Glnfs) rs398124572
NM_183050.2(BCKDHB):c.509G>A (p.Arg170His) rs371518124
NM_183050.2(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867
NM_183050.2(BCKDHB):c.637G>T (p.Val213Phe) rs994415333
NM_183050.2(BCKDHB):c.840+1G>T rs760538465
NM_183050.2(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603
NM_183050.2(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541
NM_183050.3(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.3(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183050.3(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.3(BCKDHB):c.342T>G (p.Tyr114Ter) rs398124573
NM_183050.3(BCKDHB):c.344-24C>T rs73479953
NM_183050.3(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_183050.3(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.3(BCKDHB):c.447T>C (p.Phe149=) rs35969420
NM_183050.3(BCKDHB):c.51A>G (p.Ala17=) rs376293687
NM_183050.3(BCKDHB):c.63G>T (p.Gly21=) rs368345065
NM_183050.3(BCKDHB):c.742+16A>G rs140373763
NM_183050.3(BCKDHB):c.742+7A>T rs111903796
NM_183050.3(BCKDHB):c.752T>C (p.Val251Ala) rs398124593
NM_183050.3(BCKDHB):c.799C>T (p.Gln267Ter) rs398124594
NM_183050.3(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233
NM_183050.3(BCKDHB):c.840+2T>G rs398124596
NM_183050.3(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598
NM_183050.3(BCKDHB):c.951+48C>T rs3749896
NM_183050.3(BCKDHB):c.974T>G (p.Leu325Arg) rs398124604
NM_183050.3(BCKDHB):c.987C>T (p.His329=) rs138670449

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