ClinVar Miner

Variants in gene VPS33B 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
119 7 0 6 10 0 1 17

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 1 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 10 0
likely benign 0 0 10 0 5
benign 0 0 0 5 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_018668.4(VPS33B):c.1170+5G>A rs201431055
NM_018668.4(VPS33B):c.1207T>C (p.Leu403=) rs139655526
NM_018668.4(VPS33B):c.1225+5G>C rs398122407
NM_018668.4(VPS33B):c.1274G>A (p.Ser425Asn) rs139709507
NM_018668.4(VPS33B):c.1362C>T (p.Ala454=) rs142964161
NM_018668.4(VPS33B):c.1658-7C>T rs375376103
NM_018668.4(VPS33B):c.1701C>T (p.Leu567=) rs146999653
NM_018668.4(VPS33B):c.1714T>G (p.Phe572Val) rs145092724
NM_018668.4(VPS33B):c.1749C>T (p.Ala583=) rs201436915
NM_018668.4(VPS33B):c.198A>G (p.Leu66=) rs1416595652
NM_018668.4(VPS33B):c.357G>A (p.Lys119=) rs146758743
NM_018668.4(VPS33B):c.363T>C (p.Tyr121=) rs149733667
NM_018668.4(VPS33B):c.456G>T (p.Leu152=) rs997425993
NM_018668.4(VPS33B):c.842C>G (p.Ala281Gly) rs115308854
NM_018668.4(VPS33B):c.944G>A (p.Arg315Gln) rs145303578
NM_018668.4(VPS33B):c.96+1G>T rs1567232168
NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln) rs145070485

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