ClinVar Miner

Variants in gene KBTBD13 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
240 21 0 15 5 0 1 21

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 4 1
likely benign 0 4 0 15
benign 0 1 15 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
NM_001101362.2(KBTBD13):c.-13C>T rs147079462
NM_001101362.2(KBTBD13):c.1077A>G (p.Gly359=) rs199526404
NM_001101362.2(KBTBD13):c.1128G>A (p.Thr376=) rs116623596
NM_001101362.2(KBTBD13):c.117C>T (p.Gly39=) rs367684457
NM_001101362.2(KBTBD13):c.1191G>C (p.Val397=) rs376673920
NM_001101362.2(KBTBD13):c.1197C>T (p.Arg399=) rs150830358
NM_001101362.2(KBTBD13):c.1363A>G (p.Thr455Ala) rs116406369
NM_001101362.2(KBTBD13):c.162C>T (p.Ser54=) rs1162054356
NM_001101362.2(KBTBD13):c.163G>A (p.Ala55Thr) rs551460635
NM_001101362.2(KBTBD13):c.228C>G (p.Asp76Glu) rs777431652
NM_001101362.2(KBTBD13):c.246G>C (p.Val82=) rs115182478
NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093
NM_001101362.2(KBTBD13):c.333C>G (p.Asp111Glu) rs188146580
NM_001101362.2(KBTBD13):c.361G>A (p.Val121Met) rs201466173
NM_001101362.2(KBTBD13):c.394G>A (p.Gly132Ser) rs373039171
NM_001101362.2(KBTBD13):c.471C>T (p.Tyr157=) rs550724858
NM_001101362.2(KBTBD13):c.516C>G (p.Asp172Glu) rs142592180
NM_001101362.2(KBTBD13):c.729C>G (p.Ser243Arg) rs767990371
NM_001101362.2(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406
NM_001101362.2(KBTBD13):c.963G>A (p.Val321=) rs548699720
NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=)

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