ClinVar Miner

Variants in gene NIPBL 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
487 49 0 26 19 0 3 45

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 1 0 0
likely pathogenic 3 0 2 0 0
uncertain significance 1 2 0 18 4
likely benign 0 0 18 0 23
benign 0 0 4 23 0

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_133433.3(NIPBL):c.1056C>T (p.Ser352=) rs200440893
NM_133433.3(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703
NM_133433.3(NIPBL):c.1212C>T (p.Pro404=) rs80358349
NM_133433.3(NIPBL):c.126T>C (p.Phe42=) rs727504046
NM_133433.3(NIPBL):c.1392T>A (p.Pro464=) rs555179389
NM_133433.3(NIPBL):c.1495+8_1495+10delAAT rs398124464
NM_133433.3(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.3(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.3(NIPBL):c.198C>G (p.Val66=) rs146033170
NM_133433.3(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.3(NIPBL):c.2447G>A (p.Arg816His) rs80358359
NM_133433.3(NIPBL):c.2469A>G (p.Lys823=) rs293756
NM_133433.3(NIPBL):c.2471C>T (p.Ser824Leu) rs587783904
NM_133433.3(NIPBL):c.2768G>T (p.Gly923Val) rs200991784
NM_133433.3(NIPBL):c.294C>T (p.Ala98=) rs142184978
NM_133433.3(NIPBL):c.3015A>G (p.Leu1005=) rs1669445
NM_133433.3(NIPBL):c.3121+11T>G rs457583
NM_133433.3(NIPBL):c.3423A>G (p.Ser1141=) rs571024836
NM_133433.3(NIPBL):c.3502+17A>C rs144725401
NM_133433.3(NIPBL):c.3541A>C (p.Arg1181=) rs35748854
NM_133433.3(NIPBL):c.3575-17A>G rs78827246
NM_133433.3(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.3(NIPBL):c.4240-14T>G rs298972
NM_133433.3(NIPBL):c.4245A>C (p.Ser1415=) rs138440449
NM_133433.3(NIPBL):c.4421+7A>G rs76297333
NM_133433.3(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.3(NIPBL):c.4561-9T>A rs79924167
NM_133433.3(NIPBL):c.4731A>G (p.Glu1577=) rs140021654
NM_133433.3(NIPBL):c.535G>A (p.Ala179Thr) rs142923613
NM_133433.3(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.3(NIPBL):c.5863-12_5863-11dupAT rs10554564
NM_133433.3(NIPBL):c.6109-3T>C rs145778995
NM_133433.3(NIPBL):c.615G>A (p.Ser205=) rs150678035
NM_133433.3(NIPBL):c.6322G>A (p.Ala2108Thr) rs587784006
NM_133433.3(NIPBL):c.6400C>T (p.Leu2134=) rs372730081
NM_133433.3(NIPBL):c.65-5A>G rs587784012
NM_133433.3(NIPBL):c.6589+9A>T rs370709104
NM_133433.3(NIPBL):c.6613A>G (p.Ser2205Gly) rs587784018
NM_133433.3(NIPBL):c.6645A>G (p.Leu2215=) rs149186951
NM_133433.3(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.3(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.3(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.3(NIPBL):c.7641C>T (p.Leu2547=) rs587784046
NM_133433.3(NIPBL):c.781T>G (p.Ser261Ala) rs16903425
NM_133433.3(NIPBL):c.7830G>C (p.Val2610=) rs115668015

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