ClinVar Miner

Variants in gene RAB3GAP2 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 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
82 80 0 8 11 0 1 19

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 9 3
likely benign 0 0 9 0 7
benign 0 0 3 7 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_012414.4(RAB3GAP2):c.1215C>T (p.Phe405=) rs762485949
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) rs150643803
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=) rs140146408
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447
NM_012414.4(RAB3GAP2):c.2807-15G>A rs200407685
NM_012414.4(RAB3GAP2):c.304+12A>G rs530311696
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) rs140377995
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779
NM_012414.4(RAB3GAP2):c.3867+13C>T rs200579008
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) rs149842844
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) rs576411922

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