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 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
668 50 0 22 23 0 6 48

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 2 0 0
likely pathogenic 2 0 4 0 0
uncertain significance 2 4 0 19 5
likely benign 0 0 19 0 20
benign 0 0 5 20 0

All variants with conflicting interpretations #

Total variants: 48
Download table as spreadsheet
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) rs80358349
NM_133433.4(NIPBL):c.126T>C (p.Phe42=) rs727504046
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) rs148075057
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=) rs139177541
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=) rs148394805
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836
NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser) rs557147929
NM_133433.4(NIPBL):c.3502+17A>C rs144725401
NM_133433.4(NIPBL):c.3575-17A>G rs78827246
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.4561-9T>A rs79924167
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=) rs758853244
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=) rs148542094
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5863-31TA[11] rs10554564
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr) rs587784006
NM_133433.4(NIPBL):c.64+5G>A rs587784011
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=) rs372730081
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6590-9C>T rs201043922
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly) rs587784018
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.772-8A>G rs398124473
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=) rs371347218
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_133433.4(NIPBL):c.804A>G (p.Ala268=) rs144238532

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