ClinVar Miner

Variants in gene combination FANCD2, LOC107303338 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:
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
97 15 0 20 9 0 0 28

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 0 0 0
uncertain significance 0 0 0 6 4
likely benign 0 0 6 0 18
benign 0 0 4 18 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_001018115.2(FANCD2):c.1336C>G (p.Leu446Val) rs34557223
NM_001018115.2(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_001018115.2(FANCD2):c.1414-9C>T rs35557429
NM_001018115.2(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_001018115.2(FANCD2):c.1656+14T>A rs200473919
NM_001018115.2(FANCD2):c.2124T>C (p.Phe708=) rs9809716
NM_001018115.2(FANCD2):c.2702G>T (p.Gly901Val) rs35495399
NM_001018115.2(FANCD2):c.2712C>T (p.Asn904=) rs35594075
NM_001018115.2(FANCD2):c.2877A>G (p.Gln959=) rs145953386
NM_001018115.2(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_033084.4(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_033084.4(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.4(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_033084.4(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315
NM_033084.4(FANCD2):c.195G>C (p.Gln65His) rs36084488
NM_033084.4(FANCD2):c.2022-5C>T rs4019784
NM_033084.4(FANCD2):c.205+9T>G rs34113138
NM_033084.4(FANCD2):c.2148C>G (p.Thr716=) rs55856815
NM_033084.4(FANCD2):c.2484G>A (p.Lys828=) rs55980657
NM_033084.4(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_033084.4(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_033084.4(FANCD2):c.311T>C (p.Ile104Thr) rs143936557
NM_033084.4(FANCD2):c.378-6_378-5del rs55973240
NM_033084.4(FANCD2):c.491+10G>A rs17032279
NM_033084.4(FANCD2):c.516A>G (p.Ile172Met) rs35173688
NM_033084.4(FANCD2):c.577A>G (p.Thr193Ala) rs34936017
NM_033084.4(FANCD2):c.983G>A (p.Arg328Gln) rs35625434
NM_033084.4(FANCD2):c.986C>G (p.Ala329Gly) rs116736407

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