ClinVar Miner

Variants in gene NALCN 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
795 103 0 28 20 0 3 50

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 7 1 0 0
likely pathogenic 7 0 2 0 0
uncertain significance 1 2 0 19 2
likely benign 0 0 19 0 21
benign 0 0 2 21 0

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_052867.4(NALCN):c.515+7G>A rs41281142 0.01052
NM_052867.4(NALCN):c.2859C>T (p.Phe953=) rs34033086 0.00816
NM_052867.4(NALCN):c.4446+15T>C rs78312347 0.00484
NM_052867.4(NALCN):c.3735A>G (p.Ser1245=) rs111383689 0.00300
NM_052867.4(NALCN):c.4905+15C>T rs78026529 0.00297
NM_052867.4(NALCN):c.3138C>T (p.Cys1046=) rs114562583 0.00273
NM_052867.4(NALCN):c.1623G>A (p.Pro541=) rs115826662 0.00255
NM_052867.4(NALCN):c.2119-13T>C rs9518313 0.00218
NM_052867.4(NALCN):c.3270-4G>A rs199646798 0.00109
NM_052867.4(NALCN):c.4103+4G>C rs201402954 0.00078
NM_052867.4(NALCN):c.516-12T>C rs182998660 0.00078
NM_052867.4(NALCN):c.1567A>G (p.Ile523Val) rs150580612 0.00060
NM_052867.4(NALCN):c.3843G>A (p.Thr1281=) rs151200877 0.00057
NM_052867.4(NALCN):c.2172C>T (p.Thr724=) rs79766279 0.00044
NM_052867.4(NALCN):c.1617G>A (p.Thr539=) rs773153499 0.00039
NM_052867.4(NALCN):c.2119-10T>C rs200497682 0.00029
NM_052867.4(NALCN):c.2242G>A (p.Ala748Thr) rs77946954 0.00026
NM_052867.4(NALCN):c.2457-4C>G rs200652639 0.00025
NM_052867.4(NALCN):c.722C>T (p.Pro241Leu) rs764444847 0.00023
NM_052867.4(NALCN):c.3058-11A>G rs201506269 0.00021
NM_052867.4(NALCN):c.2307T>G (p.His769Gln) rs147070169 0.00016
NM_052867.4(NALCN):c.4581C>T (p.Asp1527=) rs143067409 0.00016
NM_052867.4(NALCN):c.1280T>C (p.Val427Ala) rs371662809 0.00011
NM_052867.4(NALCN):c.2266G>A (p.Val756Met) rs149203278 0.00011
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys) rs372035044 0.00009
NM_052867.4(NALCN):c.5098G>A (p.Val1700Met) rs761894809 0.00007
NM_052867.4(NALCN):c.942+8G>A rs374004710 0.00006
NM_052867.4(NALCN):c.1765-6T>G rs370198465 0.00005
NM_052867.4(NALCN):c.2050A>T (p.Thr684Ser) rs751927717 0.00004
NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys) rs549182297 0.00003
NM_052867.4(NALCN):c.249G>A (p.Thr83=) rs145910377 0.00002
NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu) rs763353781 0.00002
NM_052867.4(NALCN):c.4466G>A (p.Arg1489His) rs149644813 0.00001
NM_052867.4(NALCN):c.1639A>G (p.Met547Val) rs1057519432
NM_052867.4(NALCN):c.1733A>G (p.Tyr578Cys) rs786203988
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter) rs541633673
NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val) rs1555381108
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052867.4(NALCN):c.3553G>A (p.Ala1185Thr) rs2139519168
NM_052867.4(NALCN):c.3852C>A (p.Gly1284=) rs772803115
NM_052867.4(NALCN):c.3959C>T (p.Thr1320Met)
NM_052867.4(NALCN):c.4004G>A (p.Ser1335Asn) rs2139471533
NM_052867.4(NALCN):c.4104-11del rs113354194
NM_052867.4(NALCN):c.4104-19dup rs113354194
NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu) rs78817184
NM_052867.4(NALCN):c.4977C>T (p.Asp1659=) rs78817184
NM_052867.4(NALCN):c.5127G>A (p.Ala1709=) rs111638537
NM_052867.4(NALCN):c.537del (p.Ile178_Trp179insTer) rs1594759803
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr) rs1057519433

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