ClinVar Miner

Variants in gene NBN 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 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
1595 416 0 53 73 2 8 118

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 risk factor
pathogenic 0 21 5 1 1 1
likely pathogenic 21 0 3 0 0 0
uncertain significance 5 3 0 70 15 1
likely benign 1 0 70 0 32 0
benign 1 0 15 32 0 1
risk factor 1 0 1 0 1 0

All variants with conflicting interpretations #

Total variants: 118
Download table as spreadsheet
HGVS dbSNP
NM_001024688.2(NBN):c.-141_-140del rs767454740
NM_001024688.2(NBN):c.-286del rs1064793210
NM_001024688.2(NBN):c.1728del (p.Glu576fs) rs1057516668
NM_001024688.2(NBN):c.60del (p.Phe20fs) rs587781305
NM_001024688.2(NBN):c.896del (p.Pro299fs) rs587781969
NM_002485.4(NBN):c.-26G>A rs201392451
NM_002485.4(NBN):c.-2C>A rs202104448
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.1035C>T (p.Gly345=) rs146605798
NM_002485.4(NBN):c.1036G>A (p.Val346Met) rs200297914
NM_002485.4(NBN):c.1056A>G (p.Leu352=) rs369092711
NM_002485.4(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.4(NBN):c.1089C>T (p.Tyr363=) rs121908974
NM_002485.4(NBN):c.1124+6G>T rs375862750
NM_002485.4(NBN):c.1125-3C>T rs587781326
NM_002485.4(NBN):c.1160C>G (p.Ser387Cys) rs747632184
NM_002485.4(NBN):c.1177T>C (p.Phe393Leu) rs941732827
NM_002485.4(NBN):c.120G>T (p.Ser40=) rs774989816
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1232C>G (p.Ser411Cys) rs551032019
NM_002485.4(NBN):c.1238A>G (p.Asn413Ser) rs529340553
NM_002485.4(NBN):c.1248G>T (p.Met416Ile) rs756572268
NM_002485.4(NBN):c.1268A>G (p.Lys423Arg) rs1444306607
NM_002485.4(NBN):c.127C>T (p.Arg43Ter) rs200287925
NM_002485.4(NBN):c.1312A>G (p.Ser438Gly) rs1456827107
NM_002485.4(NBN):c.1317A>G (p.Ile439Met) rs28538230
NM_002485.4(NBN):c.1383G>A (p.Pro461=) rs886063169
NM_002485.4(NBN):c.1398-10T>A rs539960851
NM_002485.4(NBN):c.1398-10dup rs587780555
NM_002485.4(NBN):c.1454C>T (p.Thr485Met) rs200891292
NM_002485.4(NBN):c.1465C>G (p.Leu489Val) rs143948240
NM_002485.4(NBN):c.1480C>A (p.Gln494Lys) rs587781557
NM_002485.4(NBN):c.1489A>G (p.Thr497Ala) rs3026268
NM_002485.4(NBN):c.1591A>G (p.Ile531Val) rs587782330
NM_002485.4(NBN):c.163_171+3del rs1057516772
NM_002485.4(NBN):c.1659G>A (p.Met553Ile) rs876659960
NM_002485.4(NBN):c.1684G>A (p.Val562Ile) rs754651655
NM_002485.4(NBN):c.1690G>A (p.Glu564Lys) rs72550742
NM_002485.4(NBN):c.16C>T (p.Pro6Ser) rs730881859
NM_002485.4(NBN):c.171+3A>G rs1487002693
NM_002485.4(NBN):c.172-3C>T rs587781620
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.4(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.4(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.4(NBN):c.1777C>G (p.Pro593Ala) rs146989944
NM_002485.4(NBN):c.1809C>A (p.Phe603Leu) rs192236678
NM_002485.4(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.4(NBN):c.1870C>T (p.Arg624Cys) rs962092255
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.1909_1910delinsTA (p.Ile637Ter) rs1563516254
NM_002485.4(NBN):c.1911_1914+1del rs1554556880
NM_002485.4(NBN):c.1914+10G>A rs577706448
NM_002485.4(NBN):c.1993A>G (p.Lys665Glu) rs1554556544
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2070+1G>A rs1554556454
NM_002485.4(NBN):c.2071-4A>G rs746994234
NM_002485.4(NBN):c.207A>G (p.Lys69=) rs754352569
NM_002485.4(NBN):c.2082T>G (p.Pro694=) rs7823648
NM_002485.4(NBN):c.2117C>G (p.Ser706Ter) rs730881857
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) rs72563785
NM_002485.4(NBN):c.2196A>G (p.Gln732=) rs587780780
NM_002485.4(NBN):c.2202A>G (p.Ala734=) rs200452212
NM_002485.4(NBN):c.2220T>C (p.Ala740=) rs147494981
NM_002485.4(NBN):c.2235-18C>T rs138106214
NM_002485.4(NBN):c.2235-3C>T rs1554553897
NM_002485.4(NBN):c.254A>G (p.Asn85Ser) rs587780095
NM_002485.4(NBN):c.265C>T (p.Arg89Ter) rs1057516320
NM_002485.4(NBN):c.278C>T (p.Ser93Leu) rs12721593
NM_002485.4(NBN):c.279G>A (p.Ser93=) rs587780781
NM_002485.4(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.4(NBN):c.321-17C>G rs763878712
NM_002485.4(NBN):c.34G>A (p.Gly12Arg) rs878854511
NM_002485.4(NBN):c.37+10G>C rs369408590
NM_002485.4(NBN):c.37+1G>A rs574673404
NM_002485.4(NBN):c.37+5G>A rs116735828
NM_002485.4(NBN):c.37+6G>A rs540868733
NM_002485.4(NBN):c.38-2A>G rs771475965
NM_002485.4(NBN):c.38-5C>T rs775244752
NM_002485.4(NBN):c.38-7A>G rs863224392
NM_002485.4(NBN):c.394A>G (p.Ile132Val) rs756946899
NM_002485.4(NBN):c.426T>C (p.Asn142=) rs143070291
NM_002485.4(NBN):c.441C>T (p.Cys147=) rs137857529
NM_002485.4(NBN):c.456G>A (p.Met152Ile) rs201816949
NM_002485.4(NBN):c.468A>C (p.Lys156Asn) rs730881858
NM_002485.4(NBN):c.481-4G>A rs754864893
NM_002485.4(NBN):c.505C>T (p.Arg169Cys) rs182756889
NM_002485.4(NBN):c.584+6T>C rs1554566602
NM_002485.4(NBN):c.584+9T>C rs746913991
NM_002485.4(NBN):c.64G>A (p.Val22Ile) rs369910645
NM_002485.4(NBN):c.666C>T (p.Phe222=) rs876661098
NM_002485.4(NBN):c.692A>G (p.Asn231Ser) rs1309274168
NM_002485.4(NBN):c.702+9G>A rs748373099
NM_002485.4(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.4(NBN):c.797C>T (p.Pro266Leu) rs769420
NM_002485.4(NBN):c.798G>A (p.Pro266=) rs368786672
NM_002485.4(NBN):c.804G>A (p.Thr268=) rs141443872
NM_002485.4(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_002485.4(NBN):c.939G>A (p.Ala313=) rs145750430
NM_002485.4(NBN):c.958A>G (p.Lys320Glu) rs1563548624
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441
NM_002485.5(NBN):c.171+4T>C rs587782290
NM_002485.5(NBN):c.1845+10A>G rs570914185
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.5(NBN):c.38-10T>A rs556807466
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.5(NBN):c.567G>A (p.Gln189=)
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.737del (p.Gly246fs)
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427

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