ClinVar Miner

Variants with conflicting interpretations studied for Frontotemporal dementia

Coded as:
Minimum review status of the submission for Frontotemporal dementia: Y axis collection method of the submission for Frontotemporal dementia:
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
75 76 1 21 8 1 2 32

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
Frontotemporal dementia pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor
pathogenic 1 1 0 1 0 0 0
uncertain significance 0 1 0 2 0 0 0
likely benign 0 0 5 0 14 0 0
benign 0 0 1 6 0 1 1

Condition to condition summary #

Total conditions: 13
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
not provided 0 30 0 7 3 0 1 11
not specified 0 10 0 9 1 0 0 10
Combined Pituitary Hormone Deficiency, Recessive 0 1 0 5 2 0 0 7
Frontotemporal dementia, ubiquitin-positive 0 2 0 7 0 0 0 7
Frontotemporal dementia, ubiquitin-positive; Ceroid lipofuscinosis, neuronal, 11 0 1 0 5 0 0 0 5
MAPT-Related Spectrum Disorders 0 1 0 1 2 0 1 4
Seizures 0 4 0 4 0 0 0 4
Frontotemporal Dementia, Chromosome 3-Linked; Amyotrophic lateral sclerosis 17 0 0 0 2 1 0 0 3
Alzheimer disease, type 3 0 0 1 0 0 0 0 1
Amyotrophic lateral sclerosis type 10 0 0 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 0 0 0 1 0 0 0 1
FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO 0 0 0 0 0 1 0 1
Ischemic stroke 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000306.4(POU1F1):c.*139T>A rs4988463
NM_000306.4(POU1F1):c.*140A>T rs33936108
NM_000306.4(POU1F1):c.666-5G>A rs76296626
NM_001122757.3(POU1F1):c.*138T>A rs190287993
NM_001122757.3(POU1F1):c.*139dup rs368061882
NM_001122757.3(POU1F1):c.744-6C>T rs201995103
NM_002087.3(GRN):c.*78C>T rs5848
NM_002087.3(GRN):c.-72G>T rs76783532
NM_002087.3(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002087.3(GRN):c.1544G>C (p.Gly515Ala) rs25647
NM_002087.3(GRN):c.264+7G>A rs60100877
NM_002087.3(GRN):c.384T>C (p.Asp128=) rs25646
NM_002087.3(GRN):c.545C>T (p.Thr182Met) rs63750479
NM_002087.3(GRN):c.546G>A (p.Thr182=) rs138473783
NM_002087.3(GRN):c.55C>T (p.Arg19Trp) rs63750723
NM_002087.3(GRN):c.708+1G>A rs63749817
NM_002087.3(GRN):c.835+7G>A rs72824736
NM_002087.3(GRN):c.99C>T (p.Asp33=) rs63750742
NM_007375.3(TARDBP):c.1098C>G (p.Ala366=) rs148325203
NM_007375.3(TARDBP):c.198T>C (p.Ala66=) rs61730366
NM_014043.4(CHMP2B):c.*1589G>A rs1060241
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) rs192188850
NM_014043.4(CHMP2B):c.34+8C>T rs35413339
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395
NM_016835.4(MAPT):c.1280C>T (p.Ser427Phe) rs143956882
NM_016835.4(MAPT):c.1405G>A (p.Ala469Thr) rs143624519
NM_016835.4(MAPT):c.14G>A (p.Arg5His) rs63750959
NM_016835.4(MAPT):c.1666G>A (p.Ala556Thr) rs63750096
NM_016835.4(MAPT):c.1761G>A (p.Pro587=) rs11568305
NM_016835.4(MAPT):c.1866+29G>A rs63751443
NM_016835.4(MAPT):c.2038G>A (p.Val680Ile) rs63750869

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.