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 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
284 31 0 9 18 0 5 29

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 5 1 0 0
likely pathogenic 5 0 4 0 0
uncertain significance 1 4 0 14 7
likely benign 0 0 14 0 4
benign 0 0 7 4 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000462.5(UBE3A):c.591A>G (p.Ala197=) rs764101035
NM_130838.1(UBE3A):c.1119T>C (p.Asp373=) rs143000400
NM_130838.1(UBE3A):c.1212C>T (p.Pro404=) rs1057520392
NM_130838.1(UBE3A):c.1278T>C (p.Phe426=) rs371154816
NM_130838.1(UBE3A):c.1516C>T (p.Arg506Cys) rs1064793307
NM_130838.1(UBE3A):c.1560C>T (p.Ile520=) rs1057523671
NM_130838.1(UBE3A):c.1633G>A (p.Gly545Arg) rs587781233
NM_130838.1(UBE3A):c.1745_1747delCTT (p.Ser582del) rs587781234
NM_130838.1(UBE3A):c.1805A>G (p.Asn602Ser) rs587784521
NM_130838.1(UBE3A):c.1905A>G (p.Leu635=) rs371296838
NM_130838.1(UBE3A):c.2284G>A (p.Val762Ile) rs587782910
NM_130838.1(UBE3A):c.2355T>C (p.Phe785=) rs587780991
NM_130838.1(UBE3A):c.2359A>G (p.Thr787Ala) rs374519603
NM_130838.1(UBE3A):c.2503C>T (p.Leu835Phe) rs587783097
NM_130838.1(UBE3A):c.2503_2508delCTTAAA (p.Leu835_Lys836del) rs863225070
NM_130838.1(UBE3A):c.2T>C (p.Met1Thr) rs587780577
NM_130838.1(UBE3A):c.317C>A (p.Thr106Lys) rs587781241
NM_130838.1(UBE3A):c.349T>C (p.Cys117Arg) rs587782907
NM_130838.1(UBE3A):c.947T>C (p.Met316Thr) rs863225071
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760
NM_130838.3(UBE3A):c.1209C>T (p.Asp403=) rs149506027
NM_130838.3(UBE3A):c.1344A>G (p.Thr448=) rs150331504
NM_130838.3(UBE3A):c.1707C>T (p.Tyr569=) rs139082033
NM_130838.3(UBE3A):c.2064+9T>C rs79328837
NM_130838.3(UBE3A):c.313T>C (p.Leu105=) rs61734190
NM_130838.3(UBE3A):c.417A>T (p.Ala139=) rs28528079
NM_130838.3(UBE3A):c.532G>A (p.Ala178Thr) rs147145506
NM_130838.3(UBE3A):c.558A>T (p.Ala186=) rs143484751
NM_130838.3(UBE3A):c.729C>T (p.Asn243=) rs1453409055

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