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 Variants with at least 2 submissions 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 kind of conflict
407 80 25 48 63 0 1 118

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
pathogenic 25 4 1 1 1
likely pathogenic 4 0 0 0 0
uncertain significance 1 0 0 53 27
likely benign 1 0 53 0 44
benign 1 0 27 44 0

All variants with conflicting interpretations #

Total variants: 118
Download table as spreadsheet
HGVS dbSNP
NM_018136.4(ASPM):c.*60C>T rs1537318
NM_018136.4(ASPM):c.-110C>T rs74981632
NM_018136.4(ASPM):c.-28G>A rs111299108
NM_018136.4(ASPM):c.-9G>T rs141108591
NM_018136.4(ASPM):c.1007C>A (p.Thr336Lys) rs112113370
NM_018136.4(ASPM):c.10331+8A>G rs10754213
NM_018136.4(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.4(ASPM):c.1154_1155delAG (p.Glu385Valfs) rs199422137
NM_018136.4(ASPM):c.1179delT (p.Asn394Ilefs) rs199422138
NM_018136.4(ASPM):c.1260_1266delTCAAGTC (p.Gln421Hisfs) rs199422139
NM_018136.4(ASPM):c.1288A>G (p.Arg430Gly) rs6428388
NM_018136.4(ASPM):c.1385A>G (p.Tyr462Cys) rs143294539
NM_018136.4(ASPM):c.1467A>G (p.Arg489=) rs146561469
NM_018136.4(ASPM):c.1631_1635delATCTT (p.Tyr544Serfs) rs199422144
NM_018136.4(ASPM):c.1717C>T (p.Arg573Trp) rs144049904
NM_018136.4(ASPM):c.1729_1730delAG (p.Ser577Argfs) rs199422146
NM_018136.4(ASPM):c.1840G>C (p.Val614Leu) rs199813531
NM_018136.4(ASPM):c.1959_1962delCAAA (p.Asn653Lysfs) rs199422147
NM_018136.4(ASPM):c.1977T>C (p.Ile659=) rs17550662
NM_018136.4(ASPM):c.1987G>T (p.Ala663Ser) rs113611857
NM_018136.4(ASPM):c.2173+6C>T rs377501585
NM_018136.4(ASPM):c.2174-20T>C rs4915344
NM_018136.4(ASPM):c.223G>A (p.Ala75Thr) rs61995747
NM_018136.4(ASPM):c.2263G>A (p.Ala755Thr) rs150852085
NM_018136.4(ASPM):c.2307A>G (p.Ala769=) rs35897746
NM_018136.4(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.4(ASPM):c.2419+12G>A rs77191836
NM_018136.4(ASPM):c.2751C>T (p.Ala917=) rs33987824
NM_018136.4(ASPM):c.2914T>G (p.Leu972Val) rs552158003
NM_018136.4(ASPM):c.3138G>A (p.Arg1046=) rs6676084
NM_018136.4(ASPM):c.3189A>G (p.Leu1063=) rs146858888
NM_018136.4(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081
NM_018136.4(ASPM):c.3391-14G>T rs80058948
NM_018136.4(ASPM):c.349C>T (p.Arg117Ter) rs137852996
NM_018136.4(ASPM):c.3579T>A (p.Ser1193=) rs4915337
NM_018136.4(ASPM):c.3599-4A>G rs149303254
NM_018136.4(ASPM):c.3710C>G (p.Ser1237Ter) rs199422159
NM_018136.4(ASPM):c.3741+3A>G rs138558822
NM_018136.4(ASPM):c.3742-10T>G rs41299587
NM_018136.4(ASPM):c.3742-3dup rs587783236
NM_018136.4(ASPM):c.3791G>A (p.Arg1264His) rs150125249
NM_018136.4(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161
NM_018136.4(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858
NM_018136.4(ASPM):c.3912C>A (p.Ile1304=) rs56912014
NM_018136.4(ASPM):c.3960C>T (p.Leu1320=) rs148964635
NM_018136.4(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.4(ASPM):c.4195dupA (p.Thr1399Asnfs) rs199422163
NM_018136.4(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209
NM_018136.4(ASPM):c.441+14C>T rs1571964
NM_018136.4(ASPM):c.4733G>A (p.Arg1578Gln) rs143822761
NM_018136.4(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.4(ASPM):c.5063C>T (p.Thr1688Ile) rs62624968
NM_018136.4(ASPM):c.5083C>T (p.Arg1695Cys) rs80238010
NM_018136.4(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623
NM_018136.4(ASPM):c.5224T>C (p.Tyr1742His) rs143733126
NM_018136.4(ASPM):c.5299G>C (p.Ala1767Pro) rs142536561
NM_018136.4(ASPM):c.5510G>A (p.Gly1837Asp) rs144969324
NM_018136.4(ASPM):c.5579C>T (p.Ala1860Val) rs77138363
NM_018136.4(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218
NM_018136.4(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473
NM_018136.4(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018136.4(ASPM):c.581C>A (p.Ala194Asp) rs141532484
NM_018136.4(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253
NM_018136.4(ASPM):c.5940C>T (p.Tyr1980=) rs150642468
NM_018136.4(ASPM):c.5947A>T (p.Met1983Leu) rs141715950
NM_018136.4(ASPM):c.6125A>G (p.Asp2042Gly) rs150327858
NM_018136.4(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.4(ASPM):c.6337_6338delAT (p.Ile2113Serfs) rs199422169
NM_018136.4(ASPM):c.646G>A (p.Glu216Lys) rs151050191
NM_018136.4(ASPM):c.6551G>A (p.Arg2184Gln) rs200848981
NM_018136.4(ASPM):c.6702A>G (p.Gln2234=) rs142587742
NM_018136.4(ASPM):c.6717G>C (p.Leu2239=) rs147100928
NM_018136.4(ASPM):c.6727G>T (p.Val2243Leu) rs148425392
NM_018136.4(ASPM):c.6775T>C (p.Leu2259=) rs140922974
NM_018136.4(ASPM):c.6916_6919delTTAC (p.Leu2306Serfs) rs1064795945
NM_018136.4(ASPM):c.7023C>T (p.Ile2341=) rs115891952
NM_018136.4(ASPM):c.719_720delCT (p.Ser240Cysfs) rs199422135
NM_018136.4(ASPM):c.7353G>A (p.Leu2451=) rs111487086
NM_018136.4(ASPM):c.7475G>A (p.Arg2492Lys) rs118010078
NM_018136.4(ASPM):c.7551T>C (p.Tyr2517=) rs149228705
NM_018136.4(ASPM):c.7554A>G (p.Arg2518=) rs140248383
NM_018136.4(ASPM):c.7566A>G (p.Leu2522=) rs1412640
NM_018136.4(ASPM):c.7620A>G (p.Ala2540=) rs147160053
NM_018136.4(ASPM):c.7761T>G (p.Tyr2587Ter) rs189678019
NM_018136.4(ASPM):c.7782_7783delGA (p.Lys2595Serfs) rs199422173
NM_018136.4(ASPM):c.7787T>C (p.Val2596Ala) rs79572771
NM_018136.4(ASPM):c.7860G>C (p.Gln2620His) rs12138336
NM_018136.4(ASPM):c.7917A>G (p.Lys2639=) rs112647911
NM_018136.4(ASPM):c.8166T>C (p.Tyr2722=) rs78315399
NM_018136.4(ASPM):c.8203T>G (p.Phe2735Val) rs372416792
NM_018136.4(ASPM):c.8255T>G (p.Met2752Arg) rs148328539
NM_018136.4(ASPM):c.8309T>G (p.Val2770Gly) rs886043529
NM_018136.4(ASPM):c.844A>C (p.Asn282His) rs113777932
NM_018136.4(ASPM):c.849C>T (p.Ser283=) rs6677082
NM_018136.4(ASPM):c.8741T>C (p.Ile2914Thr) rs200856894
NM_018136.4(ASPM):c.8820+7C>G rs115045814
NM_018136.4(ASPM):c.8966A>G (p.Tyr2989Cys) rs149690383
NM_018136.4(ASPM):c.905G>A (p.Cys302Tyr) rs77736715
NM_018136.4(ASPM):c.9159delA (p.Lys3053Asnfs) rs199422184
NM_018136.4(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994
NM_018136.4(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185
NM_018136.4(ASPM):c.9246T>C (p.Ser3082=) rs201050851
NM_018136.4(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436
NM_018136.4(ASPM):c.9276T>C (p.Gly3092=) rs151142538
NM_018136.4(ASPM):c.933C>G (p.Ser311Arg) rs563858170
NM_018136.4(ASPM):c.937A>G (p.Ile313Val) rs12025066
NM_018136.4(ASPM):c.9444+8T>G rs140150599
NM_018136.4(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130
NM_018136.4(ASPM):c.9557C>G (p.Ser3186Ter) rs199422189
NM_018136.4(ASPM):c.9657T>G (p.Ser3219=) rs756879923
NM_018136.4(ASPM):c.9676T>G (p.Cys3226Gly) rs142901223
NM_018136.4(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194
NM_018136.4(ASPM):c.9730C>T (p.Arg3244Ter) rs199422195
NM_018136.4(ASPM):c.9773A>G (p.His3258Arg) rs7528827
NM_018136.4(ASPM):c.9833T>C (p.Val3278Ala) rs141348662
NM_018136.4(ASPM):c.9911G>A (p.Arg3304Gln) rs149859034
NM_018136.4(ASPM):c.9996T>C (p.Thr3332=) rs139927527
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306

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