ClinVar Miner

Variants in gene VHL with conflicting interpretations

See also:
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
214 83 1 22 10 0 6 36

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 13 2 1 1
likely pathogenic 13 0 5 1 1
uncertain significance 2 5 1 10 2
likely benign 1 1 10 0 10
benign 1 1 2 10 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_000551.3(VHL):c.-35G>A rs587780992
NM_000551.3(VHL):c.-5A>C rs35793832
NM_000551.3(VHL):c.-77C>T rs3087462
NM_000551.3(VHL):c.119C>T (p.Pro40Leu) rs200343185
NM_000551.3(VHL):c.134C>G (p.Pro45Arg) rs199583685
NM_000551.3(VHL):c.150C>G (p.Ala50=) rs61751580
NM_000551.3(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000551.3(VHL):c.183C>T (p.Pro61=) rs63650860
NM_000551.3(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.3(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.3(VHL):c.192delC (p.Ser65Argfs) rs730882031
NM_000551.3(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.3(VHL):c.213C>T (p.Pro71=) rs201663073
NM_000551.3(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.3(VHL):c.235C>T (p.Arg79Cys) rs200885420
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.246C>T (p.Arg82=) rs587780993
NM_000551.3(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.3(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.3(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.258C>G (p.Pro86=) rs781063331
NM_000551.3(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.3(VHL):c.315G>A (p.Thr105=) rs769102979
NM_000551.3(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.3(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.3(VHL):c.333C>G (p.Ser111Arg) rs765978945
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000551.3(VHL):c.89G>A (p.Gly30Glu) rs1064793290
NM_198156.2(VHL):c.269A>G (p.Asn90Ser) rs143985153

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