ClinVar Miner

Variants in gene ADSL 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
256 25 0 8 11 0 6 23

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 3 3 0 0
likely pathogenic 3 0 3 0 0
uncertain significance 3 3 0 7 5
likely benign 0 0 7 0 5
benign 0 0 5 5 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys) rs774159147
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) rs200814886
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000026.4(ADSL):c.357+6C>T rs181628906
NM_000026.4(ADSL):c.357+7G>A rs199993991
NM_000026.4(ADSL):c.358-4G>A rs113199851
NM_000026.4(ADSL):c.363G>A (p.Leu121=) rs138203195
NM_000026.4(ADSL):c.403-4G>A rs373652667
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) rs28941471
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158
NM_000026.4(ADSL):c.702-7T>C rs201509960
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944
NM_000026.4(ADSL):c.763C>T (p.Leu255=) rs771049726
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195

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