ClinVar Miner

Variants in gene NBAS 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
155 3 0 8 4 0 1 13

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 0 2 1 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 1 0 0 3 1
likely benign 0 0 3 0 6
benign 0 0 1 6 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_015909.4(NBAS):c.1093G>C (p.Asp365His) rs76459791
NM_015909.4(NBAS):c.1702G>A (p.Val568Ile) rs150197485
NM_015909.4(NBAS):c.1948C>T (p.Pro650Ser) rs558233705
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015909.4(NBAS):c.3067T>C (p.Tyr1023His) rs75566418
NM_015909.4(NBAS):c.3217C>T (p.Arg1073Cys) rs147322367
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp) rs368085185
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala) rs143724414
NM_015909.4(NBAS):c.4358G>A (p.Cys1453Tyr) rs148644578
NM_015909.4(NBAS):c.4822A>G (p.Met1608Val) rs140868609
NM_015909.4(NBAS):c.5090G>T (p.Arg1697Leu) rs145318018
NM_015909.4(NBAS):c.6790G>C (p.Asp2264His) rs145372749
NM_015909.4(NBAS):c.680A>C (p.His227Pro) rs748880753

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.