ClinVar Miner

Variants in gene MAN2B1 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
158 10 4 19 5 0 8 32

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 4 7 5 0 0
likely pathogenic 7 0 4 0 0
uncertain significance 5 4 0 5 1
likely benign 0 0 5 0 12
benign 0 0 1 12 0

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000528.3(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.3(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333
NM_000528.3(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.3(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657
NM_000528.3(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.3(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747
NM_000528.3(MAN2B1):c.159+2T>C rs1057516501
NM_000528.3(MAN2B1):c.1830+1G>C rs80338677
NM_000528.3(MAN2B1):c.1831-2A>G rs80338678
NM_000528.3(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862
NM_000528.3(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.3(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887
NM_000528.3(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.3(MAN2B1):c.2267+3G>C rs28639634
NM_000528.3(MAN2B1):c.2267+8dupG rs572289342
NM_000528.3(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331
NM_000528.3(MAN2B1):c.2310C>T (p.Pro770=) rs35880640
NM_000528.3(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.3(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.3(MAN2B1):c.2402dupG (p.Ser802Glnfs) rs797044680
NM_000528.3(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000528.3(MAN2B1):c.2436+2T>C rs398123457
NM_000528.3(MAN2B1):c.2562C>G (p.Ala854=) rs10410289
NM_000528.3(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253
NM_000528.3(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000528.3(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.3(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.3(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568
NM_000528.3(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968
NM_000528.3(MAN2B1):c.747C>T (p.Thr249=) rs61737536
NM_000528.3(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.3(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487

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