A total 483 pathogenic variants reported in gene assembly factor for spindle microtubules (ASPM)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter) SNV
Germline		 Chr1:197101490 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA340322 rs_189678019

3 SubmittersRCV000005246
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) SNV
Germline		 Chr1:197093168 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided
Inborn genetic diseases
Autosomal recessive primary microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340325 rs_137852994

10 SubmittersRCV000005248RCV000214564RCV004955250RCV001193347
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) SNV
Germline		 Chr1:197117876 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340327 rs_137852995

5 SubmittersRCV000005249RCV002512801
NM_018136.5(ASPM):c.349C>T (p.Arg117Ter) SNV
Germline		 Chr1:197144049 Pathogenic Microcephaly 5, primary, autosomal recessive No Assertion Criteria Provided
 CA340329 rs_137852996

2 SubmittersRCV000005250
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) SNV
Germline		 Chr1:197103062 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA340331 rs_137852997

4 SubmittersRCV000005251
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) SNV
Germline		 Chr1:197133380 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340334 rs_145489194

7 SubmittersRCV000005253RCV001851664
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter) SNV
Germline		 Chr1:197142886 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA342216 rs_199422141

2 SubmittersRCV000020744
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) SNV
Unknown		 Chr1:197125190 Pathogenic Microcephaly 5, primary, autosomal recessive
Microcephaly 1, primary, autosomal recessive		 Criteria Provided
Single Submitter
 CA342231 rs_199422151

2 SubmittersRCV000020759RCV000856770
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter) SNV
Germline		 Chr1:197125161 Pathogenic Microcephaly 5, primary, autosomal recessive
Microcephaly 1, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342233 rs_199422152

3 SubmittersRCV000020760RCV000856771RCV005089291
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter) SNV
Germline		 Chr1:197125073 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA342235 rs_199422153

2 SubmittersRCV000020761
NM_018136.5(ASPM):c.3527C>G (p.Ser1176Ter) SNV
Germline		 Chr1:197122459 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA342242 rs_199422157

2 SubmittersRCV000020767
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter) SNV
Germline		 Chr1:197122190 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA342245 rs_199422159

2 SubmittersRCV000020770
NM_018136.5(ASPM):c.3741+1G>A SNV
Germline		 Chr1:197122158 Likely pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Single Submitter
 CA342247 rs_199422160

2 SubmittersRCV000020771RCV002513149
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) SNV
Germline		 Chr1:197121989 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided
Autosomal recessive primary microcephaly
Microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342248 rs_199422161

8 SubmittersRCV000020772RCV000216421RCV001193346RCV001526516
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) SNV
Germline		 Chr1:197121974 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342250 rs_140602858

7 SubmittersRCV000020773RCV001384736
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) SNV
Germline		 Chr1:197104456 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342256 rs_199422165

7 SubmittersRCV000020778RCV000760370
NM_018136.5(ASPM):c.5136C>A (p.Tyr1712Ter) SNV
Germline		 Chr1:197104115 Likely pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Single Submitter
 CA342259 rs_148294838

2 SubmittersRCV000020780RCV002223762
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) SNV
Germline		 Chr1:197143675 Pathogenic/Likely pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342262 rs_199422134

3 SubmittersRCV000020782RCV003556062
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) SNV
Germline		 Chr1:197103019 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342264 rs_199422168

5 SubmittersRCV000020784RCV002466409
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) SNV
Germline		 Chr1:197093156 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342289 rs_199422185

10 SubmittersRCV000020811RCV000219573RCV002287340
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter) SNV
Unknown		 Chr1:197093108 Likely pathogenic Microcephaly 5, primary, autosomal recessive No Assertion Criteria Provided
 CA342291 rs_199422186

2 SubmittersRCV000020812
NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter) SNV
Unknown		 Chr1:197092032 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA342293 rs_199422187

2 SubmittersRCV000020813
NM_018136.5(ASPM):c.937A>G (p.Ile313Val) SNV
Germline		 Chr1:197143315 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA342295 rs_12025066

6 SubmittersRCV000020814RCV000914111RCV003964808
NM_018136.5(ASPM):c.9492T>G (p.Tyr3164Ter) SNV
Germline		 Chr1:197090994 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA342297 rs_143931757

2 SubmittersRCV000020816
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) SNV
Germline		 Chr1:197090947 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA233487 rs_193251130

11 SubmittersRCV000020818RCV000152802RCV000710653
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter) SNV
Germline		 Chr1:197090929 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA342300 rs_199422189

2 SubmittersRCV000020819
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) SNV
Germline		 Chr1:197090328 Pathogenic/Likely pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342307 rs_199422194

8 SubmittersRCV000020824RCV000216613RCV002251919
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter) SNV
Germline		 Chr1:197090295 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342309 rs_199422195

6 SubmittersRCV000020825RCV000256150
NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter) SNV
Germline		 Chr1:197090073 Pathogenic Microcephaly 5, primary, autosomal recessive No Assertion Criteria Provided
 CA342315 rs_199422199

2 SubmittersRCV000020830
NM_018136.5(ASPM):c.8098C>T (p.Arg2700Ter) SNV
Germline		 Chr1:197101153 Pathogenic Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA051227 rs_730882076

3 SubmittersRCV002518410RCV004796126
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) SNV
Germline		 Chr1:197086966 Pathogenic Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270993 rs_587783211

6 SubmittersRCV000145074RCV000622496RCV001857496
NM_018136.5(ASPM):c.-110C>T SNV
Germline		 Chr1:197146547 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA270985 rs_74981632

3 SubmittersRCV000145068RCV001725127
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys) SNV
Germline		 Chr1:197143245 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA270987 rs_112113370

6 SubmittersRCV000145070RCV000267551RCV000907315RCV003965090
NM_018136.5(ASPM):c.10331+5G>A SNV
Germline		 Chr1:197086798 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA270995 rs_368843607

3 SubmittersRCV000145075RCV001560972
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) SNV
Germline		 Chr1:197143114 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA235766 rs_587783215

7 SubmittersRCV000145078RCV000171162
NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn) SNV
Germline		 Chr1:197142864 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA271001 rs_587783218

5 SubmittersRCV000145082RCV001312116RCV002514787
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) SNV
Germline		 Chr1:197142535 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA271006 rs_144049904

8 SubmittersRCV000274428RCV000337624RCV000909704RCV003905249
NM_018136.5(ASPM):c.1922-14C>G SNV
Germline		 Chr1:197139885 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271011 rs_189193044

3 SubmittersRCV000145089RCV000842161
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser) SNV
Germline		 Chr1:197133574 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA171181 rs_587783224

4 SubmittersRCV000145094RCV002512565RCV003329242
NM_018136.5(ASPM):c.2419+2T>C SNV
Germline		 Chr1:197133348 Pathogenic/Likely pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided
Autosomal recessive primary microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271014 rs_587783225

4 SubmittersRCV000145099RCV000222536RCV001193345
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter) SNV
Germline		 Chr1:197128635 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271017 rs_587783227

6 SubmittersRCV000145102RCV000578788
NM_018136.5(ASPM):c.2914T>G (p.Leu972Val) SNV
Germline		 Chr1:197128512 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA271019 rs_552158003

5 SubmittersRCV000145104RCV000279948RCV000909960RCV003952696
NM_018136.5(ASPM):c.3327T>G (p.Tyr1109Ter) SNV
Germline		 Chr1:197124173 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA271026 rs_587783230

1 SubmittersRCV000145111
NM_018136.5(ASPM):c.3599-4A>G SNV
Germline		 Chr1:197122305 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA271028 rs_149303254

6 SubmittersRCV000145114RCV000214044RCV000961914RCV003945162
NM_018136.5(ASPM):c.3830G>A (p.Trp1277Ter) SNV
Germline		 Chr1:197121955 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA271031 rs_587783238

1 SubmittersRCV000145121
NM_018136.5(ASPM):c.441+10T>G SNV
Germline		 Chr1:197143947 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271039 rs_587783242

2 SubmittersRCV000145128RCV002514790
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=) SNV
Germline		 Chr1:197104808 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271040 rs_374040448

3 SubmittersRCV000145129RCV000728491
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln) SNV
Germline		 Chr1:197104518 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA271047 rs_143822761

5 SubmittersRCV000145135RCV000726421RCV003965091
NM_018136.5(ASPM):c.5061A>G (p.Ser1687=) SNV
Germline		 Chr1:197104190 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271049 rs_587783246

3 SubmittersRCV000145136RCV000895490
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter) SNV
Germline		 Chr1:197104055 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271051 rs_587783247

3 SubmittersRCV000145139RCV001849976
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His) SNV
Germline		 Chr1:197104027 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271053 rs_143733126

6 SubmittersRCV000145141RCV000221848RCV000950617
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter) SNV
Germline		 Chr1:197104018 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271055 rs_587783248

3 SubmittersRCV000145142RCV002514792
NM_018136.5(ASPM):c.5299G>C (p.Ala1767Pro) SNV
Germline		 Chr1:197103952 Conflicting classifications of pathogenicity not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA241074 rs_142536561

6 SubmittersRCV000175345RCV000336358RCV000965580RCV003927420
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp) SNV
Germline		 Chr1:197103741 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271061 rs_144969324

6 SubmittersRCV000145146RCV000891999
NM_018136.5(ASPM):c.5846A>G (p.His1949Arg) SNV
Germline		 Chr1:197103405 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Primary Microcephaly, Recessive
Condition: not provided
ASPM-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA271067 rs_186663906

6 SubmittersRCV000145153RCV000329933RCV000910458RCV003895022RCV004668803
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) SNV
Germline		 Chr1:197103304 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA209608 rs_141715950

10 SubmittersRCV000145155RCV000195047RCV000710082RCV004668804
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly) SNV
Germline		 Chr1:197103126 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided
Inborn genetic diseases
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA201406 rs_150327858

7 SubmittersRCV000145162RCV000175343RCV000991552RCV002514793RCV003905251
NM_018136.5(ASPM):c.6131A>G (p.Asn2044Ser) SNV
Germline		 Chr1:197103120 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271079 rs_145645602

7 SubmittersRCV000145163RCV000994210
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) SNV
Germline		 Chr1:197143606 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases
not specified
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA271084 rs_151050191

9 SubmittersRCV000145168RCV000210594RCV000342070RCV000710641RCV003917437
NM_018136.5(ASPM):c.6717G>C (p.Leu2239=) SNV
Germline		 Chr1:197102534 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271086 rs_147100928

6 SubmittersRCV000145169RCV000418935RCV000953163
NM_018136.5(ASPM):c.6960A>G (p.Ser2320=) SNV
Germline		 Chr1:197102291 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271089 rs_587783260

4 SubmittersRCV000145173RCV003764882
NM_018136.5(ASPM):c.7062T>C (p.Tyr2354=) SNV
Germline		 Chr1:197102189 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271091 rs_587783261

2 SubmittersRCV000145175RCV005055607
NM_018136.5(ASPM):c.7074A>G (p.Lys2358=) SNV
Germline		 Chr1:197102177 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA271093 rs_587783262

3 SubmittersRCV000145176RCV000886469RCV003965092
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn) SNV
Germline		 Chr1:197101823 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271097 rs_200654820

6 SubmittersRCV000145182RCV000593662
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=) SNV
Germline		 Chr1:197101700 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271099 rs_149228705

6 SubmittersRCV000145184RCV000385466RCV000725934
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=) SNV
Germline		 Chr1:197101697 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA201412 rs_140248383

5 SubmittersRCV000145185RCV000175352RCV000908233
NM_018136.5(ASPM):c.7612C>T (p.Gln2538Ter) SNV
Germline		 Chr1:197101639 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA271101 rs_587783268

1 SubmittersRCV000145190
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) SNV
Germline		 Chr1:197101581 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases
Condition: not provided
Intellectual disability
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA271104 rs_78215018

12 SubmittersRCV000145192RCV000624327RCV000710646RCV001252170RCV003905252
NM_018136.5(ASPM):c.7825C>T (p.Gln2609Ter) SNV
Germline		 Chr1:197101426 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA271106 rs_587783272

1 SubmittersRCV000145199
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) SNV
Germline		 Chr1:197101234 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Multiple Submitters
No Conflicts
 CA271112 rs_587783275

3 SubmittersRCV000145206
NM_018136.5(ASPM):c.8034C>A (p.Gly2678=) SNV
Germline		 Chr1:197101217 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271114 rs_587783276

2 SubmittersRCV000145207RCV002514796
NM_018136.5(ASPM):c.81C>A (p.Pro27=) SNV
Germline		 Chr1:197146357 Conflicting classifications of pathogenicity not specified
Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA171269 rs_369801034

4 SubmittersRCV000145210RCV000902988RCV001096975
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) SNV
Germline		 Chr1:197101048 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA271118 rs_372416792

6 SubmittersRCV000145211RCV000710649RCV003905253
NM_018136.5(ASPM):c.8449G>T (p.Ala2817Ser) SNV
Germline		 Chr1:197100802 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271122 rs_117963393

4 SubmittersRCV000145213RCV000907959
NM_018136.5(ASPM):c.844A>C (p.Asn282His) SNV
Germline		 Chr1:197143408 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA271124 rs_113777932

6 SubmittersRCV000145214RCV000364012RCV000907317RCV003965093
NM_018136.5(ASPM):c.8523A>G (p.Leu2841=) SNV
Germline		 Chr1:197100728 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271127 rs_587783281

4 SubmittersRCV000145216RCV002055871
NM_018136.5(ASPM):c.8524C>T (p.Arg2842Trp) SNV
Germline		 Chr1:197100727 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA271129 rs_112946633

4 SubmittersRCV000145217RCV001857497
NM_018136.5(ASPM):c.8704C>T (p.Gln2902Ter) SNV
Germline		 Chr1:197100547 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA271131 rs_587783282

1 SubmittersRCV000145218
NM_018136.5(ASPM):c.8741T>C (p.Ile2914Thr) SNV
Germline		 Chr1:197100510 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA271134 rs_200856894

5 SubmittersRCV000145220RCV000609920RCV001857498RCV002512567
NM_018136.5(ASPM):c.8903G>A (p.Trp2968Ter) SNV
Germline		 Chr1:197096082 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271136 rs_587783285

2 SubmittersRCV000145222RCV003556184
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr) SNV
Germline		 Chr1:197143347 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided
not specified
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA271138 rs_77736715

6 SubmittersRCV000145224RCV000907316RCV000361989RCV003965094
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter) SNV
Germline		 Chr1:197093255 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Multiple Submitters
No Conflicts
 CA271140 rs_587783287

4 SubmittersRCV000145225
NM_018136.5(ASPM):c.9104T>A (p.Leu3035Ter) SNV
Germline		 Chr1:197093242 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA271142 rs_587783288

1 SubmittersRCV000145226
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) SNV
Germline		 Chr1:197093092 Conflicting classifications of pathogenicity not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided
ASPM-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA171273 rs_138138436

11 SubmittersRCV000145227RCV000625877RCV000904302RCV003935235RCV004019763
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=) SNV
Germline		 Chr1:197093070 Conflicting classifications of pathogenicity not specified
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA171275 rs_151142538

5 SubmittersRCV000145228RCV000726475RCV003927421
NM_018136.5(ASPM):c.932G>C (p.Ser311Thr) SNV
Germline		 Chr1:197143320 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA171277 rs_202012380

3 SubmittersRCV000145231RCV001849977
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter) SNV
Germline		 Chr1:197091032 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271149 rs_587783292

3 SubmittersRCV000145235RCV000221824
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) SNV
Germline		 Chr1:197090004 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA271159 rs_587783295

6 SubmittersRCV000145241RCV000255897RCV004955288
NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln) SNV
Germline		 Chr1:197090003 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA202013 rs_149859034

6 SubmittersRCV000145242RCV000176582RCV000991554RCV003905254
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=) SNV
Germline		 Chr1:197101631 Conflicting classifications of pathogenicity not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA208374 rs_147160053

6 SubmittersRCV000194290RCV000356625RCV000723816
NM_018136.5(ASPM):c.4035A>G (p.Lys1345=) SNV
Germline		 Chr1:197117819 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA240942 rs_537034419

2 SubmittersRCV000175219
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=) SNV
Germline		 Chr1:197103311 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA201408 rs_150642468

5 SubmittersRCV000175348RCV000900530
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp) SNV
Germline		 Chr1:197101183 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA241080 rs_41302133

6 SubmittersRCV000724422RCV000763780RCV002516673
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln) SNV
Germline		 Chr1:197101023 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA241082 rs_202193200

3 SubmittersRCV000175350RCV001098118
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys) SNV
Germline		 Chr1:197101776 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA201410 rs_118010078

5 SubmittersRCV000386579RCV000175351RCV000906357RCV003947484
NM_018136.5(ASPM):c.8821-9A>G SNV
Germline		 Chr1:197096173 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA241232 rs_375911555

2 SubmittersRCV000175469
NM_018136.5(ASPM):c.*158T>C SNV
Germline		 Chr1:197084166 Conflicting classifications of pathogenicity not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA208398 rs_41265225

4 SubmittersRCV000194304RCV001101703RCV001550843
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter) SNV
Germline		 Chr1:197088357 Pathogenic/Likely pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA277313 rs_748529285

4 SubmittersRCV000194402RCV003221844
NM_018136.5(ASPM):c.5532T>G (p.Tyr1844Ter) SNV
Germline		 Chr1:197103719 Likely pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA277095 rs_797045314

1 SubmittersRCV000193186
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg) SNV
Germline		 Chr1:197104815 Conflicting classifications of pathogenicity not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA209774 rs_115594989

5 SubmittersRCV000195143RCV001096687RCV000725997RCV002517054
NM_018136.5(ASPM):c.1995C>T (p.Ser665=) SNV
Germline		 Chr1:197139798 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA206266 rs_797045310

2 SubmittersRCV000193038RCV005055696
NM_018136.5(ASPM):c.1840G>C (p.Val614Leu) SNV
Germline		 Chr1:197142412 Conflicting classifications of pathogenicity not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA208920 rs_199813531

3 SubmittersRCV000194627RCV000314198RCV002517052
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) SNV
Germline		 Chr1:197143319 Conflicting classifications of pathogenicity not specified
Condition: not provided
Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA205314 rs_563858170

8 SubmittersRCV000192474RCV000710651RCV000714630RCV004020311
NM_018136.5(ASPM):c.8558G>A (p.Arg2853Gln) SNV
Germline		 Chr1:197100693 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA207909 rs_148245202

3 SubmittersRCV000194024RCV001853124
NM_018136.5(ASPM):c.5818C>G (p.Gln1940Glu) SNV
Germline		 Chr1:197103433 Conflicting classifications of pathogenicity Inborn genetic diseases
Microcephaly 5, primary, autosomal recessive
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA358236 rs_142378871

4 SubmittersRCV000210715RCV000328675RCV002054357RCV001289245
NM_018136.5(ASPM):c.2T>C (p.Met1Thr) SNV
Germline		 Chr1:197146436 Likely pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA1310994 rs_761447719

1 SubmittersRCV000490408
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys) SNV
Germline		 Chr1:197096019 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309103 rs_149690383

6 SubmittersRCV000727434RCV001101795RCV004020707
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) SNV
Germline		 Chr1:197100996 Conflicting classifications of pathogenicity not specified
Condition: not provided
Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA1309254 rs_148328539

7 SubmittersRCV000222163RCV000727273RCV003137830RCV004020699RCV003937863
NM_018136.5(ASPM):c.4732C>T (p.Arg1578Ter) SNV
Germline		 Chr1:197104519 Pathogenic Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10577221 rs_753406334

2 SubmittersRCV000220667RCV004786610
NM_018136.5(ASPM):c.8124T>G (p.Tyr2708Ter) SNV
Germline		 Chr1:197101127 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10577222 rs_876661036

1 SubmittersRCV000213452
NM_018136.5(ASPM):c.6107T>G (p.Val2036Gly) SNV
Germline		 Chr1:197103144 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309628 rs_763984813

3 SubmittersRCV000298418RCV001711512
NM_018136.5(ASPM):c.3056G>A (p.Arg1019Gln) SNV
Germline		 Chr1:197125072 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1310274 rs_780791970

2 SubmittersRCV000213946RCV005268574
NM_018136.5(ASPM):c.4422G>A (p.Trp1474Ter) SNV
Germline		 Chr1:197104829 Pathogenic Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1309933 rs_147622433

3 SubmittersRCV000221876RCV003454673
NM_018136.5(ASPM):c.2770G>T (p.Glu924Ter) SNV
Germline		 Chr1:197128656 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10577226 rs_749462358

1 SubmittersRCV000221380
NM_018136.5(ASPM):c.3979C>T (p.Arg1327Ter) SNV
Germline		 Chr1:197117875 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10588274 rs_886039310

1 SubmittersRCV003562325
NM_018136.5(ASPM):c.3082+1G>C SNV
Germline		 Chr1:197125045 Pathogenic/Likely pathogenic Condition: not provided
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602744 rs_886041709

4 SubmittersRCV000294377RCV000855492RCV002503977
NM_018136.5(ASPM):c.2922T>A (p.Cys974Ter) SNV
Germline		 Chr1:197128504 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10602764 rs_886041720

1 SubmittersRCV000277471
NM_018136.5(ASPM):c.2205G>A (p.Glu735=) SNV
Germline		 Chr1:197133564 Conflicting classifications of pathogenicity Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA1310517 rs_755350285

3 SubmittersRCV000319151RCV003967707
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=) SNV
Germline		 Chr1:197122174 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA1310104 rs_376539395

4 SubmittersRCV000402243RCV001100191RCV003957420
NM_018136.5(ASPM):c.1980C>T (p.Ile660=) SNV
Germline		 Chr1:197139813 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA1310601 rs_151087446

2 SubmittersRCV000298028
NM_018136.5(ASPM):c.7569A>G (p.Gln2523=) SNV
Germline		 Chr1:197101682 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA1309373 rs_148494695

2 SubmittersRCV000350693
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr) SNV
Germline		 Chr1:197090024 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA1308829 rs_201033114

4 SubmittersRCV000307688RCV000339532RCV003967741
NM_018136.5(ASPM):c.6849C>G (p.Leu2283=) SNV
Germline		 Chr1:197102402 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA1309504 rs_756622578

2 SubmittersRCV000285966
NM_018136.5(ASPM):c.8829G>A (p.Trp2943Ter) SNV
Germline		 Chr1:197096156 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10605290 rs_886043249

1 SubmittersRCV000312667
NM_018136.5(ASPM):c.8309T>G (p.Val2770Gly) SNV
Germline		 Chr1:197100942 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA10605624 rs_886043529

2 SubmittersRCV000725923
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) SNV
Germline		 Chr1:197124311 Conflicting classifications of pathogenicity not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310229 rs_146858888

5 SubmittersRCV000346125RCV000356948RCV000726103
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=) SNV
Germline		 Chr1:197090368 Conflicting classifications of pathogenicity not specified
Condition: not provided
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA1308885 rs_756879923

5 SubmittersRCV000310407RCV000726348RCV003940070
NM_018136.5(ASPM):c.2994G>A (p.Pro998=) SNV
Germline		 Chr1:197125134 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA1310280 rs_554545885

2 SubmittersRCV000336475
NM_018136.5(ASPM):c.10096G>A (p.Gly3366Arg) SNV
Germline		 Chr1:197088321 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1308795 rs_201679731

4 SubmittersRCV000383545RCV002519459RCV002059413
NM_018136.5(ASPM):c.10095C>T (p.Gly3365=) SNV
Germline		 Chr1:197088322 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10608698 rs_886045759

2 SubmittersRCV000270409RCV005055846
NM_018136.5(ASPM):c.9833T>C (p.Val3278Ala) SNV
Germline		 Chr1:197090081 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1308835 rs_141348662

3 SubmittersRCV000375565RCV000611741RCV000975960
NM_018136.5(ASPM):c.9246T>C (p.Ser3082=) SNV
Germline		 Chr1:197093100 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309006 rs_201050851

3 SubmittersRCV000311180RCV000443169RCV003556312
NM_018136.5(ASPM):c.7372A>G (p.Arg2458Gly) SNV
Germline		 Chr1:197101879 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309415 rs_560411441

3 SubmittersRCV000328786RCV002519461
NM_018136.5(ASPM):c.6843A>T (p.Arg2281Ser) SNV
Germline		 Chr1:197102408 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309507 rs_749279060

2 SubmittersRCV000285661RCV004678669
NM_018136.5(ASPM):c.5967G>A (p.Lys1989=) SNV
Germline		 Chr1:197103284 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10608708 rs_886045770

2 SubmittersRCV000369476RCV005090420
NM_018136.5(ASPM):c.1185A>G (p.Gln395=) SNV
Germline		 Chr1:197143067 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310753 rs_183395856

3 SubmittersRCV000382924RCV000728600
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe) SNV
Germline		 Chr1:197122420 Conflicting classifications of pathogenicity not specified
Condition: not provided
Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1310142 rs_143805893

7 SubmittersRCV000502887RCV000710631RCV000763786RCV004021407
NM_018136.5(ASPM):c.2509T>C (p.Ser837Pro) SNV
Germline		 Chr1:197130035 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310422 rs_763288947

3 SubmittersRCV000328598RCV003165795RCV001850512
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr) SNV
Germline		 Chr1:197133506 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310507 rs_150852085

4 SubmittersRCV000282954RCV000593526RCV000710626
NM_018136.5(ASPM):c.1467A>G (p.Arg489=) SNV
Germline		 Chr1:197142785 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310707 rs_146561469

3 SubmittersRCV000365531RCV000436668RCV000899643
NM_018136.5(ASPM):c.10261C>A (p.Gln3421Lys) SNV
Germline		 Chr1:197086873 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1308756 rs_201191528

2 SubmittersRCV000328716RCV000901975
NM_018136.5(ASPM):c.9540G>A (p.Gln3180=) SNV
Germline		 Chr1:197090946 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1308930 rs_530083972

2 SubmittersRCV000281092RCV003311741
NM_018136.5(ASPM):c.5478A>C (p.Ile1826=) SNV
Germline		 Chr1:197103773 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309748 rs_764346876

2 SubmittersRCV000337615RCV000953432
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) SNV
Germline		 Chr1:197104113 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309807 rs_141297873

6 SubmittersRCV000315450RCV000595920RCV002519464
NM_018136.5(ASPM):c.2936+13A>G SNV
Germline		 Chr1:197128477 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310316 rs_759746669

2 SubmittersRCV000277272RCV005055848
NM_018136.5(ASPM):c.2532C>T (p.Val844=) SNV
Germline		 Chr1:197130012 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310418 rs_141716537

4 SubmittersRCV000290161RCV003417939
NM_018136.5(ASPM):c.2419+6A>T SNV
Germline		 Chr1:197133344 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310475 rs_202002135

3 SubmittersRCV000288836RCV001550101
NM_018136.5(ASPM):c.1921+13T>G SNV
Germline		 Chr1:197142318 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310625 rs_41304245

2 SubmittersRCV000393055RCV002059415
NM_018136.5(ASPM):c.10416G>A (p.Thr3472=) SNV
Germline		 Chr1:197084342 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1308707 rs_150108952

2 SubmittersRCV000313676RCV002059412
NM_018136.5(ASPM):c.7878G>A (p.Gln2626=) SNV
Germline		 Chr1:197101373 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309323 rs_757860001

2 SubmittersRCV000398589RCV005055847
NM_018136.5(ASPM):c.6551G>A (p.Arg2184Gln) SNV
Germline		 Chr1:197102700 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309569 rs_200848981

4 SubmittersRCV000355862RCV001697643RCV002519463
NM_018136.5(ASPM):c.4053A>C (p.Ala1351=) SNV
Germline		 Chr1:197117801 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310012 rs_147209201

2 SubmittersRCV000319232RCV002059414
NM_018136.5(ASPM):c.2173+6C>T SNV
Germline		 Chr1:197135090 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310542 rs_377501585

3 SubmittersRCV000340275RCV001711768
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter) SNV
Germline		 Chr1:197142578 Pathogenic/Likely pathogenic Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042323 rs_933106143

3 SubmittersRCV000413862RCV003449037
NM_018136.5(ASPM):c.2409G>A (p.Trp803Ter) SNV
Germline		 Chr1:197133360 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA16042342 rs_1057518269

1 SubmittersRCV000413809
NM_018136.5(ASPM):c.9923G>T (p.Arg3308Leu) SNV
Germline		 Chr1:197089991 Likely pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA16044274 rs_201362977

1 SubmittersRCV000416559
NM_018136.5(ASPM):c.5467C>T (p.Gln1823Ter) SNV
Germline		 Chr1:197103784 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA1309755 rs_754909135

1 SubmittersRCV000416534
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=) SNV
Germline		 Chr1:197102549 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA1309541 rs_142587742

4 SubmittersRCV000710642RCV000437446
NM_018136.5(ASPM):c.3772G>A (p.Ala1258Thr) SNV
Germline		 Chr1:197122013 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310080 rs_142214506

4 SubmittersRCV000430502RCV000766846
NM_018136.5(ASPM):c.3247A>G (p.Ile1083Val) SNV
Germline		 Chr1:197124253 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1310215 rs_772918163

2 SubmittersRCV000436883RCV005470418
NM_018136.5(ASPM):c.8757A>T (p.Arg2919Ser) SNV
Germline		 Chr1:197100494 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309158 rs_751097660

2 SubmittersRCV000442630RCV001865356
NM_018136.5(ASPM):c.6514G>A (p.Val2172Ile) SNV
Germline		 Chr1:197102737 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases
Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309578 rs_370590014

4 SubmittersRCV000424922RCV003168634RCV003449049RCV005090716
NM_018136.5(ASPM):c.7106A>C (p.Gln2369Pro) SNV
Germline		 Chr1:197102145 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309454 rs_372076208

3 SubmittersRCV000421073RCV002525417RCV004955484
NM_018136.5(ASPM):c.1871T>C (p.Ile624Thr) SNV
Germline		 Chr1:197142381 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA16603505 rs_1057523023

2 SubmittersRCV000424135RCV003258812
NM_018136.5(ASPM):c.19G>C (p.Gly7Arg) SNV
Germline		 Chr1:197146419 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310990 rs_776662758

2 SubmittersRCV000437239RCV001865364
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) SNV
Germline		 Chr1:197104888 Pathogenic Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603515 rs_1057520873

6 SubmittersRCV000421420RCV000502418
NM_018136.5(ASPM):c.1790G>A (p.Arg597Gln) SNV
Germline		 Chr1:197142462 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16603517 rs_377444313

2 SubmittersRCV000431955RCV001865358
NM_018136.5(ASPM):c.9084+5G>A SNV
Germline		 Chr1:197094079 Likely pathogenic Microcephaly Criteria Provided
Single Submitter
 CA16609501 rs_1060499758

1 SubmittersRCV000454144
NM_018136.5(ASPM):c.2085G>A (p.Trp695Ter) SNV
Germline		 Chr1:197135184 Pathogenic Microcephaly 5, primary, autosomal recessive No Assertion Criteria Provided
 CA344010528 rs_1553227021

1 SubmittersRCV000579385
NM_018136.5(ASPM):c.1697C>A (p.Ser566Ter) SNV
Germline		 Chr1:197142555 Pathogenic Condition: not provided
Autosomal recessive primary microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344014827 rs_555866170

2 SubmittersRCV000497986RCV005239098
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly) SNV
Germline		 Chr1:197090349 Conflicting classifications of pathogenicity not specified
Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1308881 rs_142901223

7 SubmittersRCV000503336RCV001099802RCV003258831RCV000727279
NM_018136.5(ASPM):c.8986C>T (p.Arg2996Trp) SNV
Germline		 Chr1:197095999 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309100 rs_772813676

2 SubmittersRCV000502994RCV001857073
NM_018136.5(ASPM):c.6997G>T (p.Glu2333Ter) SNV
Germline		 Chr1:197102254 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA344020665 rs_1334947797

1 SubmittersRCV000504160
NM_018136.5(ASPM):c.4951A>G (p.Met1651Val) SNV
Germline		 Chr1:197104300 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309840 rs_772751994

3 SubmittersRCV000504490RCV001851402RCV004955551
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) SNV
Germline		 Chr1:197125151 Conflicting classifications of pathogenicity not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310282 rs_576139929

5 SubmittersRCV000502837RCV001096778RCV000890880
NM_018136.5(ASPM):c.2488-1G>C SNV
Germline		 Chr1:197130057 Pathogenic/Likely pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344050315 rs_1321892596

3 SubmittersRCV000503898RCV002527203
NM_018136.5(ASPM):c.297+1G>C SNV
Germline		 Chr1:197146140 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA344021818 rs_1553228275

1 SubmittersRCV000500639
NM_018136.5(ASPM):c.6928C>T (p.Gln2310Ter) SNV
Germline		 Chr1:197102323 Likely pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA1309485 rs_745997770

1 SubmittersRCV000656088
NM_018136.5(ASPM):c.2120T>A (p.Leu707Ter) SNV
Germline		 Chr1:197135149 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344010407 rs_1553227015

1 SubmittersRCV000514916
NM_018136.5(ASPM):c.9294+2T>C SNV
Germline		 Chr1:197093050 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive primary microcephaly
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA1308997 rs_199503603

4 SubmittersRCV000522059RCV002307530RCV003133305
NM_018136.5(ASPM):c.8987+1G>A SNV
Germline		 Chr1:197095997 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344009215 rs_1553326840

1 SubmittersRCV000522821
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter) SNV
Germline		 Chr1:197089953 Pathogenic Condition: not provided
Inborn genetic diseases
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344000428 rs_1482100822

3 SubmittersRCV000579333RCV002526938RCV003451296
NM_018136.5(ASPM):c.2936+5G>A SNV
Germline		 Chr1:197128485 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA1310318 rs_199422150

1 SubmittersRCV000578864
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) SNV
Germline		 Chr1:197100799 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA1309217 rs_188955444

4 SubmittersRCV000597987RCV002470922RCV003952968
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly) SNV
Germline		 Chr1:197102137 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA1309453 rs_190693455

4 SubmittersRCV000593394RCV002470923RCV003962687
NM_018136.5(ASPM):c.6550C>T (p.Arg2184Trp) SNV
Germline		 Chr1:197102701 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309570 rs_138727741

3 SubmittersRCV000596548RCV002532481
NM_018136.5(ASPM):c.4720C>T (p.Gln1574Ter) SNV
Germline		 Chr1:197104531 Likely pathogenic Autosomal recessive primary microcephaly Criteria Provided
Single Submitter
 CA1309882 rs_776034810

1 SubmittersRCV000605641
NM_018136.5(ASPM):c.9763C>T (p.Leu3255Phe) SNV
Germline		 Chr1:197090262 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1308868 rs_150809058

4 SubmittersRCV000601439RCV004584769RCV004955715
NM_018136.5(ASPM):c.6457T>C (p.Tyr2153His) SNV
Germline		 Chr1:197102794 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA344022860 rs_1183851640

2 SubmittersRCV000602660RCV003420059
NM_018136.5(ASPM):c.5551A>G (p.Ile1851Val) SNV
Germline		 Chr1:197103700 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA35873632 rs_200704986

2 SubmittersRCV000603098RCV005480417
NM_018136.5(ASPM):c.9085-3T>C SNV
Germline		 Chr1:197093264 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309041 rs_201188381

4 SubmittersRCV000603706RCV001573128
NM_018136.5(ASPM):c.3229A>C (p.Lys1077Gln) SNV
Germline		 Chr1:197124271 Conflicting classifications of pathogenicity not specified
Condition: not provided
Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1310219 rs_139317695

4 SubmittersRCV000606778RCV000941595RCV001096774RCV002528549
NM_018136.5(ASPM):c.2043G>A (p.Pro681=) SNV
Germline		 Chr1:197135226 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA1310565 rs_147526389

3 SubmittersRCV001697913RCV001102268
NM_018136.5(ASPM):c.497A>G (p.Asn166Ser) SNV
Germline		 Chr1:197143755 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1310863 rs_199520703

3 SubmittersRCV000613728RCV004711229RCV005268673
NM_018136.5(ASPM):c.7157A>G (p.His2386Arg) SNV
Germline		 Chr1:197102094 Conflicting classifications of pathogenicity Inborn genetic diseases
Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309447 rs_137890991

4 SubmittersRCV002529382RCV001098226RCV001722567
NM_018136.5(ASPM):c.3390+3A>G SNV
Germline		 Chr1:197124107 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA1310192 rs_377110373

4 SubmittersRCV000611142RCV001860357RCV002531728RCV003935728
NM_018136.5(ASPM):c.8988-1G>C SNV
Germline		 Chr1:197094181 Pathogenic Inborn genetic diseases Criteria Provided
Single Submitter
 CA344009205 rs_1553326645

1 SubmittersRCV000623024
NM_018136.5(ASPM):c.1386C>G (p.Tyr462Ter) SNV
Germline		 Chr1:197142866 Pathogenic Inborn genetic diseases Criteria Provided
Single Submitter
 CA344016518 rs_1553227742

1 SubmittersRCV000624814
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) SNV
Germline		 Chr1:197100985 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344013750 rs_763909256

4 SubmittersRCV000626188RCV001821763
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter) SNV
Germline		 Chr1:197102683 Pathogenic Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1309568 rs_199910503

4 SubmittersRCV000627285RCV000762873
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter) SNV
Germline		 Chr1:197103169 Pathogenic Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344023712 rs_1553223496

3 SubmittersRCV000627284RCV003451481
NM_018136.5(ASPM):c.4209T>C (p.His1403=) SNV
Germline		 Chr1:197105042 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA1309965 rs_776523167

2 SubmittersRCV000658536
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter) SNV
Germline		 Chr1:197101927 Pathogenic/Likely pathogenic Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1309424 rs_769364943

4 SubmittersRCV000710645RCV003453512
NM_018136.5(ASPM):c.174A>T (p.Gly58=) SNV
Germline		 Chr1:197146264 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA35863266 rs_908430857

2 SubmittersRCV000734478
NM_018136.5(ASPM):c.2103G>A (p.Gln701=) SNV
Germline		 Chr1:197135166 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA1310554 rs_370972881

3 SubmittersRCV000734842RCV003141734
NM_018136.5(ASPM):c.6624C>A (p.Tyr2208Ter) SNV
Germline		 Chr1:197102627 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344022360 rs_1226333994

1 SubmittersRCV000760629
NM_018136.5(ASPM):c.3229A>T (p.Lys1077Ter) SNV
Germline		 Chr1:197124271 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344042646 rs_139317695

1 SubmittersRCV000760749
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter) SNV
Germline		 Chr1:197102332 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344020982 rs_142865061

3 SubmittersRCV000778956RCV001873177
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) SNV
Germline		 Chr1:197104402 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided
Autosomal recessive primary microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1309855 rs_772050241

6 SubmittersRCV000778206RCV001552104RCV003994113
NM_018136.5(ASPM):c.8383C>G (p.Gln2795Glu) SNV
Germline		 Chr1:197100868 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309235 rs_776299348

2 SubmittersRCV000840947RCV004958189
NM_018136.5(ASPM):c.6606A>T (p.Arg2202Ser) SNV
Germline		 Chr1:197102645 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309561 rs_373173968

2 SubmittersRCV000831460RCV004029212
NM_018136.5(ASPM):c.1076A>G (p.His359Arg) SNV
Germline		 Chr1:197143176 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1310767 rs_534221332

2 SubmittersRCV000842484RCV005268793
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) SNV
Germline		 Chr1:197128563 Pathogenic Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1310334 rs_774338373

3 SubmittersRCV000855491RCV003453775RCV001816923
NM_018136.5(ASPM):c.7179T>A (p.Ala2393=) SNV
Germline		 Chr1:197102072 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA1309444 rs_117668001

2 SubmittersRCV000914073RCV001098225
NM_018136.5(ASPM):c.3804A>G (p.Arg1268=) SNV
Germline		 Chr1:197121981 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA1310076 rs_142766262

2 SubmittersRCV000916614RCV001098424
NM_018136.5(ASPM):c.9272G>A (p.Arg3091His) SNV
Germline		 Chr1:197093074 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA1309001 rs_147005963

2 SubmittersRCV000943303
NM_018136.5(ASPM):c.582T>C (p.Ala194=) SNV
Germline		 Chr1:197143670 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA1310846 rs_556849969

2 SubmittersRCV000943518RCV003141902
NM_018136.5(ASPM):c.2761-11T>C SNV
Germline		 Chr1:197128676 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310356 rs_368239890

4 SubmittersRCV001098530RCV000991550
NM_018136.5(ASPM):c.2947G>T (p.Glu983Ter) SNV
Germline		 Chr1:197125181 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344045999 rs_1571616951

1 SubmittersRCV001008021
NM_018136.5(ASPM):c.7045A>C (p.Arg2349=) SNV
Germline		 Chr1:197102206 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309466 rs_771273638

2 SubmittersRCV001098227RCV002069659
NM_018136.5(ASPM):c.4975G>T (p.Val1659Phe) SNV
Germline		 Chr1:197104276 Conflicting classifications of pathogenicity ASPM-related disorder
Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309833 rs_560847421

4 SubmittersRCV003945810RCV001102099RCV001552844
NM_018136.5(ASPM):c.4488A>G (p.Lys1496=) SNV
Germline		 Chr1:197104763 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309919 rs_141695023

4 SubmittersRCV001102102RCV003727854
NM_018136.5(ASPM):c.3886G>C (p.Ala1296Pro) SNV
Germline		 Chr1:197117968 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310044 rs_373469406

2 SubmittersRCV001098422RCV003718313
NM_018136.5(ASPM):c.2592G>A (p.Glu864=) SNV
Germline		 Chr1:197129952 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA35886960 rs_769421796

2 SubmittersRCV001100294RCV002069687
NM_018136.5(ASPM):c.489A>G (p.Thr163=) SNV
Germline		 Chr1:197143763 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310865 rs_372355541

3 SubmittersRCV001096972RCV001819801RCV002069633
NM_018136.5(ASPM):c.135C>T (p.Cys45=) SNV
Germline		 Chr1:197146303 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1310957 rs_200874183

2 SubmittersRCV001096973RCV003718312
NM_018136.5(ASPM):c.3741+1G>C SNV
Unknown		 Chr1:197122158 Pathogenic Microcephaly 5, primary, autosomal recessive No Assertion Criteria Provided
 CA344038998 rs_199422160

1 SubmittersRCV001255782
NM_018136.5(ASPM):c.1789C>T (p.Arg597Ter) SNV
Germline		 Chr1:197142463 Pathogenic Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1310651 rs_759485449

4 SubmittersRCV001871752RCV003449885
NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter) SNV
Germline		 Chr1:197090366 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1308884 rs_77424753

3 SubmittersRCV001331028RCV001384735
NM_018136.5(ASPM):c.9286C>T (p.Arg3096Ter) SNV
Germline		 Chr1:197093060 Pathogenic/Likely pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Multiple Submitters
No Conflicts
 CA344006610 rs_774143329

2 SubmittersRCV001331027
NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter) SNV
Germline		 Chr1:197102257 Pathogenic Microcephaly 5, primary, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344020672 rs_1451306414

3 SubmittersRCV001331025RCV001863234
NM_018136.5(ASPM):c.1697C>T (p.Ser566Leu) SNV
Germline		 Chr1:197142555 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1310666 rs_555866170

6 SubmittersRCV001335895RCV001871878RCV004960804
NM_018136.5(ASPM):c.9789T>G (p.Tyr3263Ter) SNV
Germline		 Chr1:197090236 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344001695 rs_199422198

1 SubmittersRCV001385993
NM_018136.5(ASPM):c.727C>T (p.Arg243Ter) SNV
Germline		 Chr1:197143525 Pathogenic Microcephaly
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344019366 rs_1463609963

2 SubmittersRCV001526515RCV004584918
NM_018136.5(ASPM):c.4414C>T (p.Gln1472Ter) SNV
Germline		 Chr1:197104837 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA344030554 rs_2125096662

2 SubmittersRCV001568856
NM_018136.5(ASPM):c.1579G>C (p.Glu527Gln) SNV
Germline		 Chr1:197142673 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1310689 rs_376058344

3 SubmittersRCV001572026RCV004039375
NM_018136.5(ASPM):c.9152G>A (p.Arg3051Gln) SNV
Germline		 Chr1:197093194 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309029 rs_368000478

3 SubmittersRCV001581396RCV002573271
NM_018136.5(ASPM):c.2893G>A (p.Val965Ile) SNV
Germline		 Chr1:197128533 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA1310328 rs_778251863

2 SubmittersRCV001586834
NM_018136.5(ASPM):c.7033T>C (p.Phe2345Leu) SNV
Germline		 Chr1:197102218 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA1309471 rs_761572391

2 SubmittersRCV001580870
NM_018136.5(ASPM):c.2551A>T (p.Ile851Phe) SNV
Germline		 Chr1:197129993 Likely pathogenic Microcephaly 5, primary, autosomal recessive No Assertion Criteria Provided
 CA344049862 rs_2125107877

1 SubmittersRCV001844388
NM_018136.5(ASPM):c.9553G>C (p.Ala3185Pro) SNV
Germline		 Chr1:197090933 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive
ASPM-related disorder		 Criteria Provided
Conflicting Classifications
 CA1308925 rs_375985254

5 SubmittersRCV001763031RCV003451878RCV003956349
NM_018136.5(ASPM):c.2760+1G>A SNV
Germline		 Chr1:197129186 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA344049247 rs_2125107452

1 SubmittersRCV001775252
NM_018136.5(ASPM):c.9641T>A (p.Leu3214Ter) SNV
Germline		 Chr1:197090384 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA344002139 rs_368682161

1 SubmittersRCV001775253
NM_018136.5(ASPM):c.9874C>T (p.Gln3292Ter) SNV
Germline		 Chr1:197090040 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA344001035 rs_2125087894

1 SubmittersRCV001784908
NM_018136.5(ASPM):c.9444+1G>T SNV
Germline		 Chr1:197091906 Likely pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA344005041 rs_1656796807

1 SubmittersRCV001780650
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter) SNV
Germline		 Chr1:197104639 Pathogenic Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1309897 rs_751326753

5 SubmittersRCV001817800RCV003130553
NM_018136.5(ASPM):c.4381C>T (p.Gln1461Ter) SNV
Germline		 Chr1:197104870 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344030694 rs_2125096695

1 SubmittersRCV001817849
NM_018136.5(ASPM):c.8590A>G (p.Ile2864Val) SNV
Germline		 Chr1:197100661 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309194 rs_759761851

2 SubmittersRCV001941295RCV005271553
NM_018136.5(ASPM):c.5264T>C (p.Val1755Ala) SNV
Germline		 Chr1:197103987 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309787 rs_776605087

2 SubmittersRCV001894031RCV005482925
NM_018136.5(ASPM):c.7105C>T (p.Gln2369Ter) SNV
Germline		 Chr1:197102146 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA344020226 rs_751436140

2 SubmittersRCV001927603
NM_018136.5(ASPM):c.7300A>G (p.Thr2434Ala) SNV
Germline		 Chr1:197101951 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309427 rs_768997704

2 SubmittersRCV001903343RCV004671508
NM_018136.5(ASPM):c.2275C>T (p.Arg759Trp) SNV
Germline		 Chr1:197133494 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1310503 rs_777867809

2 SubmittersRCV001989766RCV004671563
NM_018136.5(ASPM):c.6708T>A (p.Tyr2236Ter) SNV
Germline		 Chr1:197102543 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344021692 rs_778859631

1 SubmittersRCV002035371
NM_018136.5(ASPM):c.8892G>A (p.Trp2964Ter) SNV
Germline		 Chr1:197096093 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344009426 rs_201285805

1 SubmittersRCV002007411
NM_018136.5(ASPM):c.7049T>A (p.Leu2350Ter) SNV
Germline		 Chr1:197102202 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344020461 rs_2125094632

1 SubmittersRCV002007415
NM_018136.5(ASPM):c.9645G>A (p.Trp3215Ter) SNV
Germline		 Chr1:197090380 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344002118 rs_1394353328

1 SubmittersRCV002002506
NM_018136.5(ASPM):c.4707C>A (p.Tyr1569Ter) SNV
Germline		 Chr1:197104544 Pathogenic/Likely pathogenic Condition: not provided
Microcephaly 5, primary, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344029062 rs_1657341426

2 SubmittersRCV001950973RCV003444966
NM_018136.5(ASPM):c.8929A>G (p.Ile2977Val) SNV
Germline		 Chr1:197096056 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309109 rs_148818072

2 SubmittersRCV002014194RCV005266111
NM_018136.5(ASPM):c.7993C>T (p.Arg2665Cys) SNV
Germline		 Chr1:197101258 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309304 rs_201881549

2 SubmittersRCV002175899RCV004958476
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter) SNV
Germline		 Chr1:197104256 Likely pathogenic Microcephaly 5, primary, autosomal recessive
Autosomal recessive primary microcephaly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344028169 rs_2125096196

3 SubmittersRCV002226919RCV003120842
NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter) SNV
Germline		 Chr1:197091036 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA344003725 rs_2125088498

1 SubmittersRCV002227856
NM_018136.5(ASPM):c.8191G>T (p.Glu2731Ter) SNV
Germline		 Chr1:197101060 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA344013907 rs_2125093662

1 SubmittersRCV002272845
NM_018136.5(ASPM):c.7753G>T (p.Glu2585Ter) SNV
Germline		 Chr1:197101498 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344015978 rs_2125094032

1 SubmittersRCV002273557
NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys) SNV
Germline		 Chr1:197103651 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309726 rs_753900028

3 SubmittersRCV002573609RCV002471538RCV004067591
NM_018136.5(ASPM):c.8615C>T (p.Thr2872Met) SNV
Germline		 Chr1:197100636 Conflicting classifications of pathogenicity Microcephaly 5, primary, autosomal recessive
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309188 rs_142176273

3 SubmittersRCV002470641RCV003775525RCV005483153
NM_018136.5(ASPM):c.4806T>G (p.Tyr1602Ter) SNV
Germline		 Chr1:197104445 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344028841 rs_141338163

1 SubmittersRCV003074909
NM_018136.5(ASPM):c.4184G>A (p.Trp1395Ter) SNV
Germline		 Chr1:197105067 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344031533 rs_1376545242

1 SubmittersRCV002634325
NM_018136.5(ASPM):c.4540A>G (p.Ile1514Val) SNV
Germline		 Chr1:197104711 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309913 rs_570989564

2 SubmittersRCV002571008RCV005483165
NM_018136.5(ASPM):c.7397C>A (p.Ser2466Ter) SNV
Germline		 Chr1:197101854 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA35870756 rs_967833178

1 SubmittersRCV002569986
NM_018136.5(ASPM):c.3031A>G (p.Ile1011Val) SNV
Germline		 Chr1:197125097 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1310276 rs_536317935

2 SubmittersRCV002626318RCV004065861
NM_018136.5(ASPM):c.2629+1G>T SNV
Germline		 Chr1:197129914 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344049557 rs_2527368289

1 SubmittersRCV002731256
NM_018136.5(ASPM):c.7054A>G (p.Met2352Val) SNV
Germline		 Chr1:197102197 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1309464 rs_201935727

2 SubmittersRCV002800214RCV003348915
NM_018136.5(ASPM):c.4367G>A (p.Trp1456Ter) SNV
Germline		 Chr1:197104884 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA1309943 rs_746013650

1 SubmittersRCV002898721
NM_018136.5(ASPM):c.1172T>A (p.Leu391Ter) SNV
Germline		 Chr1:197143080 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344017347 rs_2527403897

1 SubmittersRCV002867367
NM_018136.5(ASPM):c.2420-2A>G SNV
Germline		 Chr1:197132354 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344009741 rs_1557960450

1 SubmittersRCV002941919
NM_018136.5(ASPM):c.7408A>T (p.Arg2470Ter) SNV
Germline		 Chr1:197101843 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344019066 rs_1657198788

1 SubmittersRCV003045140
NM_018136.5(ASPM):c.4123A>G (p.Ile1375Val) SNV
Germline		 Chr1:197105128 Conflicting classifications of pathogenicity Inborn genetic diseases
Microcephaly 5, primary, autosomal recessive
not specified		 Criteria Provided
Conflicting Classifications
 CA1309980 rs_531131529

3 SubmittersRCV002708112RCV003140161RCV004801304
NM_018136.5(ASPM):c.5497T>A (p.Ser1833Thr) SNV
Germline		 Chr1:197103754 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309745 rs_150693502

2 SubmittersRCV002853997RCV003546899
NM_018136.5(ASPM):c.4276A>G (p.Ile1426Val) SNV
Germline		 Chr1:197104975 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1309960 rs_770161657

2 SubmittersRCV002840924RCV005099727
NM_018136.5(ASPM):c.9041T>C (p.Ile3014Thr) SNV
Germline		 Chr1:197094127 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA35864147 rs_370990052

2 SubmittersRCV002931264RCV003730318
NM_018136.5(ASPM):c.5164A>T (p.Arg1722Ter) SNV
Germline		 Chr1:197104087 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344027397 rs_773553177

1 SubmittersRCV003129021
NM_018136.5(ASPM):c.6808C>T (p.Gln2270Ter) SNV
Germline		 Chr1:197102443 Likely pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA344021413 rs_2527295551

1 SubmittersRCV003338196
NM_018136.5(ASPM):c.2026+2C>G SNV
Germline		 Chr1:197139765 Pathogenic ASPM-related disorder Criteria Provided
Single Submitter
 CA1310592 rs_757252885

1 SubmittersRCV003405975
NM_018136.5(ASPM):c.5064T>N (p.Thr1688=) SNV
Germline		 Chr1:197104187 Pathogenic not specified Criteria Provided
Single Submitter
 rs_1241755449

1 SubmittersRCV003488816
NM_018136.5(ASPM):c.3391-2A>G SNV
Germline		 Chr1:197122597 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA344040960 rs_2527347805

1 SubmittersRCV003713164
NM_018136.5(ASPM):c.4039C>T (p.Gln1347Ter) SNV
Germline		 Chr1:197117815 Likely pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA344036191 rs_2527335439

1 SubmittersRCV003984991
NM_018136.5(ASPM):c.3742-1G>C SNV
Germline		 Chr1:197122044 Likely pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA344038235 rs_2527345547

1 SubmittersRCV003988769
NM_018136.5(ASPM):c.3820C>T (p.Gln1274Ter) SNV
Germline		 Chr1:197121965 Likely pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 CA344037718 rs_933499397

1 SubmittersRCV004547347
NM_018136.5(ASPM):c.9664A>T (p.Lys3222Ter) SNV
Germline		 Chr1:197090361 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter
 rs_2527261243

1 SubmittersRCV004557243
NM_018136.5(ASPM):c.5206C>T (p.Gln1736Ter) SNV
Germline		 Chr1:197104045 Likely pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV004797167
NM_018136.5(ASPM):c.8227C>T (p.Arg2743Ter) SNV
Germline		 Chr1:197101024 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV004797181
NM_018136.5(ASPM):c.7543C>T (p.Arg2515Ter) SNV
Germline		 Chr1:197101708 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV004795869
NM_018136.5(ASPM):c.8720T>G (p.Leu2907Ter) SNV
Germline		 Chr1:197100531 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV004801958
NM_018136.5(ASPM):c.3599-1G>A SNV
Germline		 Chr1:197122302 Likely pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV004820972
NM_018136.5(ASPM):c.593T>A (p.Leu198Ter) SNV
Germline		 Chr1:197143659 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005079681
NM_018136.5(ASPM):c.4065+1G>A SNV
Germline		 Chr1:197117788 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005158254
NM_018136.5(ASPM):c.5802G>A (p.Trp1934Ter) SNV
Germline		 Chr1:197103449 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV005229712
NM_018136.5(ASPM):c.4368G>A (p.Trp1456Ter) SNV
Unknown		 Chr1:197104883 Pathogenic Microcephaly 5, primary, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV005600593