ClinVar Miner

Variants in gene combination SNHG14, UBE3A with conflicting interpretations

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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
417 34 0 5 17 0 0 20

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 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 0 10 7
likely benign 0 0 10 0 3
benign 0 0 7 3 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
NM_000462.5(UBE3A):c.2133+9T>C rs79328837
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=) rs1057520392
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) rs371154816
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) rs1057523671
NM_130839.5(UBE3A):c.1728G>A (p.Val576=) rs749731066
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) rs371296838
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) rs587780991
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) rs587781239
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys) rs587781241
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) rs1453409055
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148

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