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 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
314 9 2 23 5 0 9 37

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 2 19 7 0 0
likely pathogenic 19 0 3 0 0
uncertain significance 7 3 0 4 2
likely benign 0 0 4 0 4
benign 0 0 2 4 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter) rs190867671
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572
NM_183050.4(BCKDHB):c.344-24C>T rs73479953
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_183050.4(BCKDHB):c.368del (p.Pro123fs) rs1085307058
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val) rs776631396
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) rs398124579
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His) rs749033513
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) rs398124581
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.633+1G>T rs398124589
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=) rs368345065
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)
NM_183050.4(BCKDHB):c.742+16A>G rs140373763
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) rs147719822
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala) rs398124593
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) rs398124594
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs) rs1057516795
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) rs398124599
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs) rs398124601
NM_183050.4(BCKDHB):c.951+48C>T rs3749896
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603
NM_183050.4(BCKDHB):c.987C>T (p.His329=) rs138670449
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys) rs1224101411
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541

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