ClinVar Miner

Variants with conflicting interpretations studied for Maple syrup urine disease

Coded as:
Minimum review status of the submission for Maple syrup urine disease: Y axis collection method of the submission for Maple syrup urine disease:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
308 73 4 54 17 0 17 85

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.

All conditions
Maple syrup urine disease pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 4 29 8 0 0
likely pathogenic 29 0 5 0 0
uncertain significance 8 9 0 14 8
likely benign 0 0 1 0 13
benign 1 0 1 14 0

Condition to condition summary #

Total conditions: 11
Download table as spreadsheet
Condition 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
Maple syrup urine disease 406 15 4 31 2 0 12 45
not specified 0 11 0 21 17 0 0 37
not provided 0 25 2 21 6 0 7 32
Maple syrup urine disease type 1B 0 5 2 4 0 0 0 4
Intermediate maple syrup urine disease type 2 0 0 0 0 0 0 2 2
Maple syrup urine disease type 1A 0 2 1 2 0 0 0 2
Maple syrup urine disease, type 3 0 2 0 0 2 0 0 2
MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB 0 1 1 1 0 0 0 1
MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA 0 0 0 1 0 0 0 1
Maple syrup urine disease type 2 0 0 0 1 0 0 0 1
Maple syrup urine disease, thiamine-responsive, type II 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 85
Download table as spreadsheet
HGVS dbSNP
NM_000108.4(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.4(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.4(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.4(DLD):c.439-7T>C rs10263341
NM_000108.4(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.4(DLD):c.684+7G>A rs75123588
NM_000108.4(DLD):c.685-14T>A rs80111449
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.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.1221A>G (p.Leu407=) rs4674
NM_000709.3(BCKDHA):c.1234G>A (p.Val412Met) rs398123490
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.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.979G>A (p.Glu327Lys) rs398123515
NM_000709.3(BCKDHA):c.996-6G>A rs74586298
NM_001918.3(DBT):c.1017_1018insNC_000001.11:g.100207187_100207312 rs796052135
NM_001918.3(DBT):c.1150G>A (p.Gly384Ser) rs12021720
NM_001918.3(DBT):c.1210-10T>A rs183058253
NM_001918.3(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.3(DBT):c.1281+6T>G rs140115881
NM_001918.3(DBT):c.1282-14_1282-10delTTTTT rs752915898
NM_001918.3(DBT):c.1291C>T (p.Arg431Ter) rs398123660
NM_001918.3(DBT):c.1430T>G (p.Met477Arg) rs398123662
NM_001918.3(DBT):c.291C>T (p.Ser97=) rs201318480
NM_001918.3(DBT):c.327C>T (p.Thr109=) rs138796800
NM_001918.3(DBT):c.506G>A (p.Arg169Gln) rs34267966
NM_001918.3(DBT):c.670G>T (p.Glu224Ter) rs74103423
NM_001918.3(DBT):c.715A>G (p.Ile239Val) rs72973763
NM_001918.3(DBT):c.724T>C (p.Ser242Pro) rs146249007
NM_001918.3(DBT):c.75_76delAT (p.Cys26Trpfs) rs768832921
NM_001918.3(DBT):c.827T>G (p.Phe276Cys) rs121964999
NM_001918.3(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001918.3(DBT):c.901C>T (p.Arg301Cys) rs185492864
NM_001918.3(DBT):c.939G>C (p.Lys313Asn) rs398123676
NM_001918.4(DBT):c.1400G>A (p.Trp467Ter) rs767760099
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.365C>A (p.Thr122Asn) rs398124575
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+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.974T>G (p.Leu325Arg) rs398124604
NM_183050.3(BCKDHB):c.987C>T (p.His329=) rs138670449

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