ClinVar Miner

Variants in gene TMEM67 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
259 14 0 24 8 1 5 36

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 risk factor
pathogenic 0 12 1 0 0 0
likely pathogenic 12 0 4 0 0 0
uncertain significance 1 4 0 7 2 1
likely benign 0 0 7 0 12 0
benign 0 0 2 12 0 1
risk factor 0 0 1 0 1 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_001142301.1(TMEM67):c.1045+46C>T rs73694952
NM_001142301.1(TMEM67):c.107C>T (p.Pro36Leu) rs73324992
NM_001142301.1(TMEM67):c.1170-2A>G rs786205608
NM_001142301.1(TMEM67):c.1332+1G>A rs386834187
NM_001142301.1(TMEM67):c.2079+2dup rs386834192
NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_001142301.1(TMEM67):c.263+48G>A rs73694924
NM_001142301.1(TMEM67):c.264-19T>C rs138589757
NM_001142301.1(TMEM67):c.2665-43C>T rs56307046
NM_001142301.1(TMEM67):c.408+2T>G rs199821258
NM_001142301.1(TMEM67):c.627-29A>G rs116802062
NM_001142301.1(TMEM67):c.627-2A>G rs386834207
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val) rs34779331
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233
NM_153704.6(TMEM67):c.2301del (p.Asp768fs) rs386834191
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221
NM_153704.6(TMEM67):c.383_384del (p.His128fs) rs386834200
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203
NM_153704.6(TMEM67):c.648del (p.Val217fs) rs386834204
NM_153704.6(TMEM67):c.717A>G (p.Val239=) rs111991507
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594

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