ClinVar Miner

Variants with conflicting interpretations studied for Primary Microcephaly, Recessive

Coded as:
Minimum review status of the submission for Primary Microcephaly, Recessive: Y axis collection method of the submission for Primary Microcephaly, Recessive:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
200 166 0 73 92 0 3 165

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.

All conditions
Primary Microcephaly, Recessive pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 0 2 0 75 39
likely benign 1 0 3 0 62
benign 0 0 0 11 0

Condition to condition summary #

Total conditions: 8
Download table as spreadsheet
Condition 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
not specified 0 49 0 73 88 0 0 161
not provided 0 46 0 18 13 0 1 31
Primary autosomal recessive microcephaly 5 0 32 0 6 4 0 1 10
Primary autosomal recessive microcephaly 6 0 6 0 3 0 0 0 3
Primary autosomal recessive microcephaly 1 0 12 0 2 0 0 0 2
Primary autosomal recessive microcephaly 3 0 6 0 2 0 0 0 2
Inborn genetic diseases 0 3 0 0 0 0 1 1
Primary autosomal recessive microcephaly 7 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 165
Download table as spreadsheet
HGVS dbSNP
NM_001172574.1(MCPH1):c.1728C>T (p.Gly576=) rs41313954
NM_001172574.1(MCPH1):c.23-15A>G rs146351889
NM_003035.2(STIL):c.1005A>G (p.Glu335=) rs149296029
NM_003035.2(STIL):c.1229C>G (p.Pro410Arg) rs202194355
NM_003035.2(STIL):c.1452C>G (p.Ser484=) rs10789505
NM_003035.2(STIL):c.2384-13A>G rs140975915
NM_003035.2(STIL):c.257C>T (p.Ala86Val) rs3125630
NM_003035.2(STIL):c.2951A>G (p.His984Arg) rs13376679
NM_003035.2(STIL):c.3375A>G (p.Arg1125=) rs142315727
NM_003035.2(STIL):c.3512C>T (p.Ser1171Phe) rs550062989
NM_014985.3(CEP152):c.1180A>G (p.Ile394Val) rs181295720
NM_014985.3(CEP152):c.161C>T (p.Ser54Leu) rs2289181
NM_014985.3(CEP152):c.191+11G>A rs75503597
NM_014985.3(CEP152):c.2019-13G>A rs9302144
NM_014985.3(CEP152):c.2262G>A (p.Glu754=) rs149176738
NM_014985.3(CEP152):c.2378G>T (p.Ser793Ile) rs2289178
NM_014985.3(CEP152):c.2681C>T (p.Ser894Phe) rs145138194
NM_014985.3(CEP152):c.2740C>G (p.Leu914Val) rs16961560
NM_014985.3(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142
NM_014985.3(CEP152):c.3313C>G (p.Leu1105Val) rs74553953
NM_014985.3(CEP152):c.3317T>C (p.Val1106Ala) rs16961557
NM_014985.3(CEP152):c.344G>A (p.Arg115Gln) rs188101277
NM_014985.3(CEP152):c.3612G>C (p.Gly1204=) rs199777941
NM_014985.3(CEP152):c.3904C>G (p.Gln1302Glu) rs149478199
NM_014985.3(CEP152):c.3926-9A>T rs80090788
NM_014985.3(CEP152):c.4007T>C (p.Ile1336Thr) rs186930123
NM_014985.3(CEP152):c.4131T>C (p.His1377=) rs114085678
NM_014985.3(CEP152):c.4689T>C (p.Asp1563=) rs74986073
NM_014985.3(CEP152):c.4746A>G (p.Pro1582=) rs150910683
NM_014985.3(CEP152):c.4910C>T (p.Pro1637Leu) rs368764302
NM_014985.3(CEP152):c.644G>A (p.Ser215Asn) rs200957146
NM_014985.3(CEP152):c.691+9C>T rs77732888
NM_014985.3(CEP152):c.767T>C (p.Ile256Thr) rs201217824
NM_014985.3(CEP152):c.925A>C (p.Lys309Gln) rs199862615
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.1288A>G (p.Arg430Gly) rs6428388
NM_018136.4(ASPM):c.1467A>G (p.Arg489=) rs146561469
NM_018136.4(ASPM):c.1717C>T (p.Arg573Trp) rs144049904
NM_018136.4(ASPM):c.1840G>C (p.Val614Leu) rs199813531
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.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.2419+12G>A rs77191836
NM_018136.4(ASPM):c.2751C>T (p.Ala917=) rs33987824
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.3579T>A (p.Ser1193=) rs4915337
NM_018136.4(ASPM):c.3741+3A>G rs138558822
NM_018136.4(ASPM):c.3742-10T>G rs41299587
NM_018136.4(ASPM):c.3791G>A (p.Arg1264His) rs150125249
NM_018136.4(ASPM):c.3912C>A (p.Ile1304=) rs56912014
NM_018136.4(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209
NM_018136.4(ASPM):c.441+14C>T rs1571964
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.5299G>C (p.Ala1767Pro) rs142536561
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.581C>A (p.Ala194Asp) rs141532484
NM_018136.4(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253
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.7023C>T (p.Ile2341=) rs115891952
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.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.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.905G>A (p.Cys302Tyr) rs77736715
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.9444+8T>G rs140150599
NM_018136.4(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130
NM_018136.4(ASPM):c.9833T>C (p.Val3278Ala) rs141348662
NM_018136.4(ASPM):c.9996T>C (p.Thr3332=) rs139927527
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306
NM_018249.5(CDK5RAP2):c.1093-14G>A rs75029577
NM_018249.5(CDK5RAP2):c.1218G>A (p.Gln406=) rs61758368
NM_018249.5(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727
NM_018249.5(CDK5RAP2):c.2294C>G (p.Pro765Arg) rs139706626
NM_018249.5(CDK5RAP2):c.2568G>A (p.Gln856=) rs144723485
NM_018249.5(CDK5RAP2):c.2655C>G (p.Phe885Leu) rs112600265
NM_018249.5(CDK5RAP2):c.307-4G>A rs7030969
NM_018249.5(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018249.5(CDK5RAP2):c.3666A>G (p.Gln1222=) rs77925703
NM_018249.5(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475
NM_018249.5(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768
NM_018249.5(CDK5RAP2):c.480A>C (p.Leu160=) rs3750494
NM_018249.5(CDK5RAP2):c.4821G>C (p.Arg1607Ser) rs16909747
NM_018249.5(CDK5RAP2):c.5355G>A (p.Thr1785=) rs145402135
NM_018249.5(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822
NM_018249.5(CDK5RAP2):c.5454T>G (p.Ile1818Met) rs114128928
NM_018249.5(CDK5RAP2):c.5578T>C (p.Leu1860=) rs77100552
NM_018249.5(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822
NM_018249.5(CDK5RAP2):c.880-7A>G rs76132121
NM_018451.4(CENPJ):c.1233G>A (p.Pro411=) rs112133852
NM_018451.4(CENPJ):c.1560A>T (p.Thr520=) rs17081368
NM_018451.4(CENPJ):c.163C>G (p.Pro55Ala) rs17081389
NM_018451.4(CENPJ):c.187G>C (p.Asp63His) rs7336216
NM_018451.4(CENPJ):c.1881G>A (p.Pro627=) rs75985315
NM_018451.4(CENPJ):c.1960G>A (p.Ala654Thr) rs140927921
NM_018451.4(CENPJ):c.2031C>T (p.Ala677=) rs61729909
NM_018451.4(CENPJ):c.253C>A (p.Pro85Thr) rs9511510
NM_018451.4(CENPJ):c.2635T>G (p.Ser879Ala) rs17402892
NM_018451.4(CENPJ):c.2806A>G (p.Ser936Gly) rs75008861
NM_018451.4(CENPJ):c.2852A>G (p.Gln951Arg) rs138675304
NM_018451.4(CENPJ):c.287A>G (p.His96Arg) rs61739263
NM_018451.4(CENPJ):c.2992-6dupT rs35599563
NM_018451.4(CENPJ):c.3367-12T>C rs3742163
NM_018451.4(CENPJ):c.3619-12G>T rs527997591
NM_018451.4(CENPJ):c.3960C>T (p.Ser1320=) rs113239817
NM_018451.4(CENPJ):c.61A>T (p.Met21Leu) rs35498994
NM_018451.4(CENPJ):c.68A>G (p.Asn23Ser) rs116981543
NM_024596.4(MCPH1):c.115-14C>T rs200346652
NM_024596.4(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569
NM_024596.4(MCPH1):c.1495G>A (p.Val499Met) rs146586991
NM_024596.4(MCPH1):c.1719C>T (p.Ser573=) rs35551093
NM_024596.4(MCPH1):c.1782G>A (p.Thr594=) rs2584
NM_024596.4(MCPH1):c.182A>G (p.Asp61Gly) rs61749465
NM_024596.4(MCPH1):c.1845A>C (p.Thr615=) rs186547090
NM_024596.4(MCPH1):c.2045C>A (p.Thr682Asn) rs12674488
NM_024596.4(MCPH1):c.2215-15C>G rs11137040
NM_024596.4(MCPH1):c.228G>T (p.Val76=) rs2305022
NM_024596.4(MCPH1):c.2295G>A (p.Ser765=) rs200401940
NM_024596.4(MCPH1):c.2400C>T (p.Tyr800=) rs7017210
NM_024596.4(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031
NM_024596.4(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091
NM_024596.4(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.4(MCPH1):c.477A>T (p.Ser159=) rs41313948
NM_024596.4(MCPH1):c.634G>A (p.Ala212Thr) rs2922828
NM_024596.4(MCPH1):c.647T>C (p.Ile216Thr) rs75741316
NM_024596.4(MCPH1):c.790A>G (p.Ile264Val) rs34121009
NM_024596.4(MCPH1):c.863C>A (p.Pro288His) rs35590577
NM_024596.4(MCPH1):c.911G>T (p.Arg304Ile) rs2083914
NM_024596.4(MCPH1):c.940G>C (p.Asp314His) rs930557
NM_144508.4(KNL1):c.1233G>C (p.Met411Ile) rs116093409
NM_144508.4(KNL1):c.165C>T (p.Asn55=) rs201818761
NM_144508.4(KNL1):c.3634G>A (p.Ala1212Thr) rs533933463
NM_170589.4(KNL1):c.2447C>G (p.Thr816Ser) rs33931006
NM_170589.4(KNL1):c.3888G>A (p.Ala1296=) rs34758606
NM_170589.4(KNL1):c.5009A>G (p.Lys1670Arg) rs76098847
NM_170589.4(KNL1):c.5709C>T (p.Leu1903=) rs201853975
NM_170589.4(KNL1):c.805A>G (p.Ile269Val) rs76371152

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