ClinVar Miner

Variants in gene ASPM with conflicting interpretations

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
603 90 21 55 39 0 5 103

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 21 7 4 1 1
likely pathogenic 7 0 1 0 0
uncertain significance 4 1 0 38 9
likely benign 1 0 38 0 48
benign 1 0 9 48 0

All variants with conflicting interpretations #

Total variants: 103
Download table as spreadsheet
HGVS dbSNP
NM_018136.5(ASPM):c.-110C>T rs74981632
NM_018136.5(ASPM):c.-9G>T rs141108591
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys) rs112113370
NM_018136.5(ASPM):c.10331+8A>G rs10754213
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018136.5(ASPM):c.1185A>G (p.Gln395=) rs183395856
NM_018136.5(ASPM):c.1260_1266del (p.Gln421fs) rs199422139
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter) rs199422141
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys) rs143294539
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter) rs933106143
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) rs144049904
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.1922-41G>A rs1332663
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser) rs113611857
NM_018136.5(ASPM):c.2103G>A (p.Gln701=) rs370972881
NM_018136.5(ASPM):c.2174-20T>C rs4915344
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr) rs150852085
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.2914T>G (p.Leu972Val) rs552158003
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) rs576139929
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888
NM_018136.5(ASPM):c.3229A>C (p.Lys1077Gln) rs139317695
NM_018136.5(ASPM):c.349C>T (p.Arg117Ter) rs137852996
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337
NM_018136.5(ASPM):c.3599-4A>G rs149303254
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter) rs199422159
NM_018136.5(ASPM):c.3742-10T>G rs41299587
NM_018136.5(ASPM):c.3742-10dup rs587783236
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His) rs150125249
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=) rs148964635
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.441+14C>T rs1571964
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg) rs115594989
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=) rs374040448
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln) rs143822761
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His) rs143733126
NM_018136.5(ASPM):c.5584A>G (p.Lys1862Glu) rs527602809
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018136.5(ASPM):c.5846A>G (p.His1949Arg) rs186663906
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=) rs150642468
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly) rs150327858
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=) rs142587742
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter) rs142865061
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=) rs115891952
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly) rs190693455
NM_018136.5(ASPM):c.719_720del (p.Ser240fs) rs199422135
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys) rs118010078
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=) rs149228705
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=) rs140248383
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=) rs147160053
NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter) rs189678019
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=) rs78315399
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln) rs202193200
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) rs148328539
NM_018136.5(ASPM):c.8309T>G (p.Val2770Gly) rs886043529
NM_018136.5(ASPM):c.8449G>T (p.Ala2817Ser) rs117963393
NM_018136.5(ASPM):c.844A>C (p.Asn282His) rs113777932
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) rs188955444
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082
NM_018136.5(ASPM):c.8821-9A>G rs375911555
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys) rs149690383
NM_018136.5(ASPM):c.8988-42G>A rs41304071
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr) rs77736715
NM_018136.5(ASPM):c.9159del (p.Lys3053fs) rs199422184
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter) rs199422186
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=) rs151142538
NM_018136.5(ASPM):c.9294+2T>C rs199503603
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170
NM_018136.5(ASPM):c.937A>G (p.Ile313Val) rs12025066
NM_018136.5(ASPM):c.9444+8T>G rs140150599
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter) rs199422189
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=) rs756879923
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly) rs142901223
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter) rs199422195
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827
NM_018136.5(ASPM):c.9833T>C (p.Val3278Ala) rs141348662
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527

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