ClinVar Miner

Variants in gene GABRG2 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
311 15 0 11 10 0 2 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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0 0
likely pathogenic 2 0 2 0 0
uncertain significance 0 2 0 8 2
likely benign 0 0 8 0 9
benign 0 0 2 9 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_198903.2(GABRG2):c.1042+6A>G rs375294947
NM_198903.2(GABRG2):c.107+6A>G rs868452487
NM_198903.2(GABRG2):c.1120G>A (p.Ala374Thr) rs398123523
NM_198903.2(GABRG2):c.1122G>A (p.Ala374=) rs371601817
NM_198903.2(GABRG2):c.1356C>T (p.Tyr452=) rs749951528
NM_198903.2(GABRG2):c.135C>T (p.Asp45=) rs375308385
NM_198903.2(GABRG2):c.1374C>T (p.Asp458=) rs113085352
NM_198903.2(GABRG2):c.1440G>A (p.Gly480=) rs150727562
NM_198903.2(GABRG2):c.243T>A (p.Leu81=) rs143295869
NM_198903.2(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_198903.2(GABRG2):c.315C>T (p.Asn105=) rs11135176
NM_198903.2(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198903.2(GABRG2):c.354G>A (p.Ala118=) rs61735412
NM_198903.2(GABRG2):c.360G>A (p.Thr120=) rs77298346
NM_198903.2(GABRG2):c.41A>G (p.Tyr14Cys) rs61750979
NM_198903.2(GABRG2):c.549-3T>G rs750459631
NM_198903.2(GABRG2):c.588C>T (p.Asn196=) rs211037
NM_198903.2(GABRG2):c.751+4C>T rs587780948
NM_198903.2(GABRG2):c.837A>G (p.Gln279=) rs78261481
NM_198903.2(GABRG2):c.888C>T (p.Ser296=) rs201672465
NM_198903.2(GABRG2):c.918T>C (p.Phe306=) rs115126975

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