ClinVar Miner

Variants in gene OCA2 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
195 25 0 13 9 2 7 24

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 affects
pathogenic 0 7 4 1 3 0
likely pathogenic 7 0 3 0 1 0
uncertain significance 4 3 0 5 6 0
likely benign 1 0 5 0 7 0
benign 3 1 6 7 0 2
affects 0 0 0 0 2 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val) rs34010619
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=) rs1800403
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820
NM_000275.3(OCA2):c.1117-17T>C rs200081580
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000275.3(OCA2):c.1503+5G>A rs368124046
NM_000275.3(OCA2):c.1679G>A (p.Arg560His) rs35110389
NM_000275.3(OCA2):c.1887G>T (p.Val629=) rs1800415
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169
NM_000275.3(OCA2):c.2208G>T (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu) rs147736385
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837
NM_000275.3(OCA2):c.574-19A>G rs145242923
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401

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