ClinVar Miner

Variants in gene BCKDHA 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
108 15 1 29 10 0 4 42

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 1 13 3 0 0
likely pathogenic 13 0 1 0 0
uncertain significance 3 1 0 9 2
likely benign 0 0 9 0 16
benign 0 0 2 16 0

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_000709.3(BCKDHA):c.*17C>T rs372125840
NM_000709.3(BCKDHA):c.-25G>C rs202084220
NM_000709.3(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857
NM_000709.3(BCKDHA):c.1037G>A (p.Arg346His) rs398123486
NM_000709.3(BCKDHA):c.1080C>T (p.Pro360=) rs373390136
NM_000709.3(BCKDHA):c.114C>T (p.Pro38=) rs11549935
NM_000709.3(BCKDHA):c.116C>A (p.Pro39His) rs11549936
NM_000709.3(BCKDHA):c.1191C>T (p.Ala397=) rs374403946
NM_000709.3(BCKDHA):c.1198A>T (p.Lys400Ter) rs863225262
NM_000709.3(BCKDHA):c.1211A>G (p.Asn404Ser) rs148090804
NM_000709.3(BCKDHA):c.1221A>G (p.Leu407=) rs4674
NM_000709.3(BCKDHA):c.1234G>A (p.Val412Met) rs398123490
NM_000709.3(BCKDHA):c.1251C>T (p.Pro417=) rs147021347
NM_000709.3(BCKDHA):c.1260C>T (p.Leu420=) rs34492894
NM_000709.3(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000709.3(BCKDHA):c.288+10G>A rs376894084
NM_000709.3(BCKDHA):c.288+1G>A rs398123496
NM_000709.3(BCKDHA):c.288+9C>T rs398123497
NM_000709.3(BCKDHA):c.288C>T (p.His96=) rs148571328
NM_000709.3(BCKDHA):c.34C>A (p.Arg12=) rs34541442
NM_000709.3(BCKDHA):c.452C>T (p.Thr151Met) rs34442879
NM_000709.3(BCKDHA):c.484+5G>A rs149899007
NM_000709.3(BCKDHA):c.511delC (p.Leu171Trpfs) rs762084007
NM_000709.3(BCKDHA):c.632C>T (p.Thr211Met) rs398123503
NM_000709.3(BCKDHA):c.639C>T (p.Ile213=) rs10404506
NM_000709.3(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000709.3(BCKDHA):c.659C>T (p.Ala220Val) rs375785084
NM_000709.3(BCKDHA):c.661_664delTACG (p.Tyr221Glnfs) rs796051938
NM_000709.3(BCKDHA):c.708C>T (p.Phe236=) rs146932786
NM_000709.3(BCKDHA):c.788_790delTCT (p.Phe263del) rs398123505
NM_000709.3(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873
NM_000709.3(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508
NM_000709.3(BCKDHA):c.861_868delAGGCCCCG (p.Gly288Valfs) rs794727847
NM_000709.3(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871
NM_000709.3(BCKDHA):c.972C>T (p.Phe324=) rs284652
NM_000709.3(BCKDHA):c.975C>T (p.Leu325=) rs55940366
NM_000709.3(BCKDHA):c.978C>T (p.Ile326=) rs398123514
NM_000709.3(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515
NM_000709.3(BCKDHA):c.995+26C>T rs284653
NM_000709.3(BCKDHA):c.995+49G>A rs284654
NM_000709.3(BCKDHA):c.996-33dupC rs3217385
NM_000709.3(BCKDHA):c.996-6G>A rs74586298

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