ClinVar Miner

Variants in gene NBAS 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
2195 100 0 37 25 0 7 68

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 10 0 0 0
likely pathogenic 10 0 6 1 0
uncertain significance 0 6 0 24 2
likely benign 0 1 24 0 27
benign 0 0 2 27 0

All variants with conflicting interpretations #

Total variants: 68
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015909.4(NBAS):c.3755C>A (p.Ser1252Tyr) rs114866170 0.00825
NM_015909.4(NBAS):c.1093G>C (p.Asp365His) rs76459791 0.00787
NM_015909.4(NBAS):c.711T>C (p.His237=) rs75347158 0.00508
NM_015909.4(NBAS):c.3282T>C (p.His1094=) rs139891797 0.00418
NM_015909.4(NBAS):c.4659+12C>G rs114354862 0.00382
NM_015909.4(NBAS):c.4847A>G (p.His1616Arg) rs35295359 0.00378
NM_015909.4(NBAS):c.3217C>T (p.Arg1073Cys) rs147322367 0.00323
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His) rs146449593 0.00303
NM_015909.4(NBAS):c.6932G>A (p.Arg2311His) rs148186764 0.00291
NM_015909.4(NBAS):c.6790G>C (p.Asp2264His) rs145372749 0.00272
NM_015909.4(NBAS):c.4822A>G (p.Met1608Val) rs140868609 0.00268
NM_015909.4(NBAS):c.6702G>T (p.Leu2234=) rs61738698 0.00196
NM_015909.4(NBAS):c.5090G>T (p.Arg1697Leu) rs145318018 0.00191
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala) rs35489395 0.00162
NM_015909.4(NBAS):c.4358G>A (p.Cys1453Tyr) rs148644578 0.00147
NM_015909.4(NBAS):c.1614G>A (p.Glu538=) rs144523752 0.00136
NM_015909.4(NBAS):c.1702G>A (p.Val568Ile) rs150197485 0.00116
NM_015909.4(NBAS):c.891G>A (p.Pro297=) rs143803321 0.00099
NM_015909.4(NBAS):c.4599A>C (p.Ala1533=) rs139902483 0.00098
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala) rs143724414 0.00097
NM_015909.4(NBAS):c.5440T>C (p.Leu1814=) rs141034921 0.00083
NM_015909.4(NBAS):c.2565T>C (p.His855=) rs137982469 0.00076
NM_015909.4(NBAS):c.3361-19A>G rs201607999 0.00075
NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr) rs199717686 0.00049
NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe) rs201084909 0.00047
NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln) rs140373332 0.00034
NM_015909.4(NBAS):c.2423+11G>A rs370043999 0.00029
NM_015909.4(NBAS):c.1980G>A (p.Lys660=) rs141257411 0.00025
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys) rs143212851 0.00017
NM_015909.4(NBAS):c.5983C>G (p.Arg1995Gly) rs767134813 0.00016
NM_015909.4(NBAS):c.3627C>T (p.Ala1209=) rs369384199 0.00013
NM_015909.4(NBAS):c.6827C>T (p.Thr2276Met) rs144615326 0.00010
NM_015909.4(NBAS):c.1438T>C (p.Ser480Pro) rs140555177 0.00009
NM_015909.4(NBAS):c.1903A>T (p.Ile635Phe) rs201269329 0.00006
NM_015909.4(NBAS):c.2423+404G>C rs1019313682 0.00004
NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp) rs897487519 0.00003
NM_015909.4(NBAS):c.6311G>A (p.Arg2104Gln) rs773412024 0.00003
NM_015909.4(NBAS):c.937C>T (p.Arg313Cys) rs571030699 0.00003
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp) rs368085185 0.00002
NM_015909.4(NBAS):c.5300A>G (p.Glu1767Gly) rs758597880 0.00002
NM_015909.4(NBAS):c.758T>G (p.Val253Gly) rs764164808 0.00002
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter) rs759960319 0.00001
NM_015909.4(NBAS):c.1549C>T (p.Arg517Cys) rs370526257 0.00001
NM_015909.4(NBAS):c.1948C>T (p.Pro650Ser) rs558233705 0.00001
NM_015909.4(NBAS):c.2524G>T (p.Val842Phe) rs1085307944 0.00001
NM_015909.4(NBAS):c.3839G>A (p.Arg1280Gln) rs149082253 0.00001
NM_015909.4(NBAS):c.513+2T>C rs1663675984 0.00001
NM_015909.4(NBAS):c.5569A>G (p.Thr1857Ala) rs758233969 0.00001
NM_015909.4(NBAS):c.6124A>G (p.Met2042Val) rs745940158 0.00001
NM_015909.4(NBAS):c.680A>C (p.His227Pro) rs748880753 0.00001
NM_015909.4(NBAS):c.842C>T (p.Pro281Leu) rs140256463 0.00001
NM_015909.4(NBAS):c.1091A>G (p.Tyr364Cys) rs534890707
NM_015909.4(NBAS):c.130del (p.Gln44fs) rs1064795199
NM_015909.4(NBAS):c.1341+6G>A
NM_015909.4(NBAS):c.1361C>G (p.Pro454Arg)
NM_015909.4(NBAS):c.2340-10T>A
NM_015909.4(NBAS):c.2340-10del
NM_015909.4(NBAS):c.2513C>T (p.Thr838Met)
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015909.4(NBAS):c.3258-5dup rs767634529
NM_015909.4(NBAS):c.3610A>G (p.Thr1204Ala)
NM_015909.4(NBAS):c.4935G>A (p.Ala1645=) rs77299752
NM_015909.4(NBAS):c.6316del (p.Arg2106fs) rs1064795471
NM_015909.4(NBAS):c.646A>C (p.Ser216Arg) rs1663516243
NM_015909.4(NBAS):c.6712-10G>A
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=) rs776597537
NM_015909.4(NBAS):c.7041_7043del (p.Leu2348del) rs1485416933
NM_015909.4(NBAS):c.767G>A (p.Cys256Tyr) rs575240073

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