ClinVar Miner

Variants in gene BTD with conflicting interpretations

See also:
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
187 27 5 45 7 1 50 93

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 other
pathogenic 5 39 44 3 1 1
likely pathogenic 39 0 12 0 0 1
uncertain significance 44 12 0 4 6 0
likely benign 3 0 4 0 6 0
benign 1 0 6 6 0 0
other 1 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 93
Download table as spreadsheet
HGVS dbSNP
NM_000060.2(BTD):c.933delT (p.Ser311Argfs) rs397514395
NM_000060.3(BTD):c.310-15delT rs587783008
NM_000060.4(BTD):c.1241_1252delATCTCCACGTCT (p.Tyr414_Val417del) rs397514404
NM_000060.4(BTD):c.1459del (p.Trp487Glyfs) rs397514423
NM_001281723.2(BTD):c.104_110delGCGGCTGinsTCC (p.Cys35Phefs) rs80338684
NM_001281723.2(BTD):c.1068G>A (p.Thr356=) rs148764524
NM_001281723.2(BTD):c.106G>A (p.Gly36Ser) rs119103232
NM_001281723.2(BTD):c.1112C>T (p.Pro371Leu) rs397514400
NM_001281723.2(BTD):c.1164G>A (p.Trp388Ter) rs397514434
NM_001281723.2(BTD):c.1211A>G (p.Asn404Ser) rs201023772
NM_001281723.2(BTD):c.1213T>G (p.Phe405Val) rs104893686
NM_001281723.2(BTD):c.1217C>T (p.Thr406Ile) rs397514405
NM_001281723.2(BTD):c.1233_1247delGGGAAAGGAAGGCTAinsTTCCAATGGCC (p.Trp411Cysfs) rs672601248
NM_001281723.2(BTD):c.1315C>G (p.Leu439Val) rs1553654107
NM_001281723.2(BTD):c.1340G>A (p.Gly447Glu) rs397514402
NM_001281723.2(BTD):c.1399G>T (p.Gly467Cys) rs746099217
NM_001281723.2(BTD):c.1472A>C (p.Asn491Thr) rs104893692
NM_001281723.2(BTD):c.1495C>T (p.Pro499Ser) rs138818907
NM_001281723.2(BTD):c.1537C>G (p.Gln513Glu) rs397514427
NM_001281723.2(BTD):c.1618C>A (p.Arg540Ser) rs80338686
NM_001281723.2(BTD):c.1618C>T (p.Arg540Cys) rs80338686
NM_001281723.2(BTD):c.1625A>G (p.Tyr542Cys) rs397514431
NM_001281723.2(BTD):c.1635C>A (p.Asp545Glu) rs146136265
NM_001281723.2(BTD):c.218T>C (p.Leu73Pro) rs397514333
NM_001281723.2(BTD):c.242G>A (p.Arg81His) rs397514343
NM_001281723.2(BTD):c.251C>T (p.Ala84Val) rs397507171
NM_001281723.2(BTD):c.254T>C (p.Leu85Ser) rs397514347
NM_001281723.2(BTD):c.267C>T (p.Asn89=) rs147057169
NM_001281723.2(BTD):c.284A>G (p.Tyr95Cys) rs397514348
NM_001281723.2(BTD):c.327T>G (p.Ile109Met) rs1024847163
NM_001281723.2(BTD):c.340G>C (p.Glu114Gln) rs397514352
NM_001281723.2(BTD):c.347G>T (p.Gly116Val) rs375712490
NM_001281723.2(BTD):c.362A>G (p.Asn121Ser) rs397514353
NM_001281723.2(BTD):c.405G>A (p.Pro135=) rs181743799
NM_001281723.2(BTD):c.430C>A (p.Pro144Thr) rs397514357
NM_001281723.2(BTD):c.449G>A (p.Arg150His) rs367902696
NM_001281723.2(BTD):c.465G>A (p.Glu155=) rs397514360
NM_001281723.2(BTD):c.475C>T (p.Arg159Cys) rs397514363
NM_001281723.2(BTD):c.491C>T (p.Ala164Val) rs397514364
NM_001281723.2(BTD):c.517G>A (p.Ala173Thr) rs13073139
NM_001281723.2(BTD):c.521A>G (p.Asn174Ser) rs397514366
NM_001281723.2(BTD):c.534G>T (p.Lys178Asn) rs397514367
NM_001281723.2(BTD):c.563G>A (p.Cys188Tyr) rs397514369
NM_001281723.2(BTD):c.589A>G (p.Asn197Asp) rs397514370
NM_001281723.2(BTD):c.601G>A (p.Val201Met) rs397514375
NM_001281723.2(BTD):c.635A>G (p.Tyr212Cys) rs397507174
NM_001281723.2(BTD):c.647A>G (p.Asn216Ser) rs397514377
NM_001281723.2(BTD):c.688G>T (p.Asp230Tyr) rs397514380
NM_001281723.2(BTD):c.707C>T (p.Thr236Ile) rs587783005
NM_001281723.2(BTD):c.740G>A (p.Cys247Tyr) rs397507175
NM_001281723.2(BTD):c.763C>T (p.Pro255Ser) rs397514383
NM_001281723.2(BTD):c.770T>C (p.Ile257Thr) rs397514384
NM_001281723.2(BTD):c.839T>C (p.Leu280Pro) rs397514389
NM_001281723.2(BTD):c.886A>G (p.Ile296Val) rs35976361
NM_001281723.2(BTD):c.904A>C (p.Asn302His) rs587783006
NM_001281723.2(BTD):c.940G>A (p.Gly314Ser) rs397514396
NM_001281723.2(BTD):c.941G>A (p.Gly314Asp) rs377651057
NM_001281723.2(BTD):c.974A>G (p.His325Arg) rs397507176
NM_001281724.2(BTD):c.1177C>T (p.Pro393Ser) rs35034250
NM_001281724.2(BTD):c.1243G>A (p.Gly415Ser) rs374141881
NM_001281724.2(BTD):c.1258T>C (p.Cys420Arg) rs397514408
NM_001281724.2(BTD):c.1273T>C (p.Cys425Arg) rs397514412
NM_001281724.2(BTD):c.1277G>A (p.Cys426Tyr) rs397514335
NM_001281724.2(BTD):c.1336G>C (p.Asp446His) rs13078881
NM_001281724.2(BTD):c.1358_1359del (p.Gly453Aspfs) rs1553654142
NM_001281724.2(BTD):c.1374A>C (p.Gln458His) rs80338685
NM_001281724.2(BTD):c.1416dup (p.Cys473Leufs) rs886041559
NM_001281724.2(BTD):c.208_211dup (p.Leu71Hisfs) rs1205964567
NM_001281724.2(BTD):c.370A>G (p.Arg124Gly) rs397514354
NM_001281724.2(BTD):c.632G>A (p.Arg211His) rs398123139
NM_001281724.2(BTD):c.651C>T (p.Leu217=) rs145388314
NM_001281724.2(BTD):c.670G>A (p.Asp224Asn) rs200337373
NM_001281724.2(BTD):c.749T>C (p.Ile250Thr) rs397514382
NM_001281725.2(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001281725.2(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001281725.2(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001281725.2(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001281725.2(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001281725.2(BTD):c.1328G>A (p.Cys443Tyr) rs397514421
NM_001281725.2(BTD):c.1334dup (p.Leu446Serfs) rs397514440
NM_001281725.2(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001281725.2(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001281725.2(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001281725.2(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001281725.2(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_001281725.2(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001281725.2(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001281725.2(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001281726.1(BTD):c.442C>T (p.Arg148Cys) rs137877018
NM_001323582.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715
NM_001323582.1(BTD):c.1421A>G (p.Tyr474Cys) rs750598655
NM_001323582.1(BTD):c.527del (p.Thr176Lysfs) rs1553653680
NM_001370658.1(BTD):c.400-8dup rs397514361

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