ClinVar Miner

Variants in gene combination GBA, LOC106627981 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:
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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
94 12 15 16 2 5 6 31

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 risk factor other
pathogenic 15 13 4 0 0 3 1
likely pathogenic 13 0 3 0 0 2 0
uncertain significance 4 3 0 2 2 2 1
likely benign 0 0 2 0 3 1 0
benign 0 0 2 3 0 1 0
risk factor 3 2 2 1 1 0 0
other 1 0 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_000157.3(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000157.3(GBA):c.1246G>A (p.Gly416Ser) rs121908311
NM_000157.3(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.3(GBA):c.1604G>A (p.Arg535His) rs75822236
NM_000157.3(GBA):c.475C>T (p.Arg159Trp) rs439898
NM_000157.3(GBA):c.476G>A (p.Arg159Gln) rs79653797
NM_000157.3(GBA):c.509G>T (p.Arg170Leu) rs80356763
NM_000157.3(GBA):c.754T>A (p.Phe252Ile) rs381737
NM_001005741.2(GBA):c.1060G>C (p.Asp354His) rs398123526
NM_001005741.2(GBA):c.1090G>A (p.Gly364Arg) rs121908305
NM_001005741.2(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_001005741.2(GBA):c.1171G>C (p.Val391Leu) rs398123527
NM_001005741.2(GBA):c.1192C>T (p.Arg398Ter) rs121908309
NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001005741.2(GBA):c.1227C>A (p.Asn409Lys)
NM_001005741.2(GBA):c.1265_1319del55 (p.Leu422Profs) rs80356768
NM_001005741.2(GBA):c.1297G>T (p.Val433Leu) rs80356769
NM_001005741.2(GBA):c.1343A>T (p.Asp448Val) rs77369218
NM_001005741.2(GBA):c.1448T>G (p.Leu483Arg) rs421016
NM_001005741.2(GBA):c.1497G>C (p.Val499=) rs1135675
NM_001005741.2(GBA):c.1504C>T (p.Arg502Cys) rs80356771
NM_001005741.2(GBA):c.1505G>A (p.Arg502His) rs80356772
NM_001005741.2(GBA):c.535G>C (p.Asp179His) rs147138516
NM_001005741.2(GBA):c.667T>C (p.Trp223Arg) rs61748906
NM_001005741.2(GBA):c.680A>G (p.Asn227Ser) rs364897
NM_001005741.2(GBA):c.703T>C (p.Ser235Pro) rs1064644
NM_001005741.2(GBA):c.721G>A (p.Gly241Arg) rs398123534
NM_001005741.2(GBA):c.764T>A (p.Phe255Tyr) rs74500255
NM_001005741.2(GBA):c.882T>G (p.His294Gln) rs367968666
NM_001005741.2(GBA):c.887G>A (p.Arg296Gln) rs78973108

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