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 Autosomal recessive primary microcephaly Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA340325	rs_137852994	10 SubmittersRCV000005248 RCV000214564 RCV001193347 RCV004955250
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 SubmittersRCV000005249 RCV002512801
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 SubmittersRCV000005253 RCV001851664
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 SubmittersRCV000020759 RCV000856770
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter)	SNV Unknown	Chr1:197125161	Pathogenic	Microcephaly 5, primary, autosomal recessive Microcephaly 1, primary, autosomal recessive	Criteria Provided Single Submitter	CA342233	rs_199422152	2 SubmittersRCV000020760 RCV000856771
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 SubmittersRCV000020771 RCV002513149
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 SubmittersRCV000020772 RCV000216421 RCV001193346 RCV001526516
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 SubmittersRCV000020773 RCV001384736
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 SubmittersRCV000020778 RCV000760370
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 SubmittersRCV000020780 RCV002223762
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 SubmittersRCV000020782 RCV003556062
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 SubmittersRCV000020784 RCV002466409
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 SubmittersRCV000020811 RCV000219573 RCV002287340
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 SubmittersRCV000020814 RCV000914111 RCV003964808
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 SubmittersRCV000020818 RCV000152802 RCV000710653
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	7 SubmittersRCV000020824 RCV000216613 RCV002251919
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 SubmittersRCV000020825 RCV000256150
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 SubmittersRCV002518410 RCV004796126
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 SubmittersRCV000145074 RCV000622496 RCV001857496
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 SubmittersRCV000145068 RCV001725127
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys)	SNV Germline	Chr1:197143245	Conflicting classifications of pathogenicity	not specified Microcephaly 5, primary, autosomal recessive Condition: not provided ASPM-related disorder	Criteria Provided Conflicting Classifications	CA270987	rs_112113370	6 SubmittersRCV000267551 RCV000145070 RCV000907315 RCV003965090
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 SubmittersRCV000145075 RCV001560972
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 SubmittersRCV000145078 RCV000171162
NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn)	SNV Germline	Chr1:197142864	Conflicting classifications of pathogenicity	Microcephaly 5, primary, autosomal recessive Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA271001	rs_587783218	5 SubmittersRCV000145082 RCV002514787 RCV001312116
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp)	SNV Germline	Chr1:197142535	Conflicting classifications of pathogenicity	Condition: not provided not specified ASPM-related disorder Microcephaly 5, primary, autosomal recessive	Criteria Provided Conflicting Classifications	CA271006	rs_144049904	8 SubmittersRCV000909704 RCV000337624 RCV003905249 RCV000274428
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 SubmittersRCV000145089 RCV000842161
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 SubmittersRCV000145099 RCV000222536 RCV001193345
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)	SNV Germline	Chr1:197128635	Pathogenic	Condition: not provided Microcephaly 5, primary, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA271017	rs_587783227	5 SubmittersRCV000578788 RCV000145102
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 SubmittersRCV000145104 RCV000279948 RCV000909960 RCV003952696
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	not specified Microcephaly 5, primary, autosomal recessive Condition: not provided ASPM-related disorder	Criteria Provided Conflicting Classifications	CA271028	rs_149303254	6 SubmittersRCV000214044 RCV000145114 RCV000961914 RCV003945162
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 SubmittersRCV000145128 RCV002514790
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 SubmittersRCV000145129 RCV000728491
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 SubmittersRCV000145135 RCV000726421 RCV003965091
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 SubmittersRCV000145136 RCV000895490
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 SubmittersRCV000145139 RCV001849976
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His)	SNV Germline	Chr1:197104027	Conflicting classifications of pathogenicity	not specified Microcephaly 5, primary, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA271053	rs_143733126	6 SubmittersRCV000221848 RCV000145141 RCV000950617
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 SubmittersRCV000145142 RCV002514792
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 SubmittersRCV000175345 RCV000336358 RCV000965580 RCV003927420
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 SubmittersRCV000145146 RCV000891999
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 Inborn genetic diseases Condition: not provided ASPM-related disorder	Criteria Provided Conflicting Classifications	CA271067	rs_186663906	6 SubmittersRCV000145153 RCV000329933 RCV004668803 RCV000910458 RCV003895022
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)	SNV Germline	Chr1:197103304	Conflicting classifications of pathogenicity	not specified Microcephaly 5, primary, autosomal recessive Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA209608	rs_141715950	10 SubmittersRCV000195047 RCV000145155 RCV004668804 RCV000710082
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 SubmittersRCV000145162 RCV000175343 RCV000991552 RCV002514793 RCV003905251
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 SubmittersRCV000145163 RCV000994210
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 ASPM-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA271084	rs_151050191	9 SubmittersRCV000145168 RCV000210594 RCV000342070 RCV003917437 RCV000710641
NM_018136.5(ASPM):c.6717G>C (p.Leu2239=)	SNV Germline	Chr1:197102534	Conflicting classifications of pathogenicity	not specified Microcephaly 5, primary, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA271086	rs_147100928	6 SubmittersRCV000418935 RCV000145169 RCV000953163
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 SubmittersRCV000145173 RCV003764882
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 SubmittersRCV000145176 RCV000886469 RCV003965092
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 SubmittersRCV000145182 RCV000593662
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=)	SNV Germline	Chr1:197101700	Conflicting classifications of pathogenicity	Microcephaly 5, primary, autosomal recessive Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA271099	rs_149228705	6 SubmittersRCV000145184 RCV000725934 RCV000385466
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 SubmittersRCV000145185 RCV000175352 RCV000908233
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 SubmittersRCV000145192 RCV000624327 RCV000710646 RCV001252170 RCV003905252
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 SubmittersRCV000145207 RCV002514796
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 SubmittersRCV000145210 RCV000902988 RCV001096975
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 SubmittersRCV000145211 RCV000710649 RCV003905253
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 SubmittersRCV000145213 RCV000907959
NM_018136.5(ASPM):c.844A>C (p.Asn282His)	SNV Germline	Chr1:197143408	Conflicting classifications of pathogenicity	not specified Microcephaly 5, primary, autosomal recessive ASPM-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA271124	rs_113777932	6 SubmittersRCV000364012 RCV000145214 RCV003965093 RCV000907317
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	3 SubmittersRCV000145216 RCV002055871
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 SubmittersRCV000145217 RCV001857497
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 SubmittersRCV000145220 RCV000609920 RCV001857498 RCV002512567
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 SubmittersRCV000145222 RCV003556184
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr)	SNV Germline	Chr1:197143347	Conflicting classifications of pathogenicity	not specified Microcephaly 5, primary, autosomal recessive Condition: not provided ASPM-related disorder	Criteria Provided Conflicting Classifications	CA271138	rs_77736715	6 SubmittersRCV000361989 RCV000145224 RCV000907316 RCV003965094
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 SubmittersRCV000145227 RCV000625877 RCV000904302 RCV003935235 RCV004019763
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 SubmittersRCV000145235 RCV000221824
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 SubmittersRCV000145241 RCV000255897 RCV004955288
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 SubmittersRCV000145242 RCV000176582 RCV000991554 RCV003905254
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=)	SNV Germline	Chr1:197101631	Conflicting classifications of pathogenicity	Microcephaly 5, primary, autosomal recessive Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA208374	rs_147160053	6 SubmittersRCV000356625 RCV000723816 RCV000194290
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 SubmittersRCV000724422 RCV000763780 RCV002516673
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln)	SNV Germline	Chr1:197101023	Conflicting classifications of pathogenicity	Microcephaly 5, primary, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA241082	rs_202193200	3 SubmittersRCV001098118 RCV000175350
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys)	SNV Germline	Chr1:197101776	Conflicting classifications of pathogenicity	Microcephaly 5, primary, autosomal recessive Condition: not provided not specified ASPM-related disorder	Criteria Provided Conflicting Classifications	CA201410	rs_118010078	5 SubmittersRCV000386579 RCV000906357 RCV000175351 RCV003947484
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 SubmittersRCV000194304 RCV001101703 RCV001550843
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 SubmittersRCV000194402 RCV003221844
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 Condition: not provided Microcephaly 5, primary, autosomal recessive Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA209774	rs_115594989	5 SubmittersRCV000195143 RCV000725997 RCV001096687 RCV002517054
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 SubmittersRCV000194627 RCV000314198 RCV002517052
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg)	SNV Germline	Chr1:197143319	Conflicting classifications of pathogenicity	not specified Microcephaly 5, primary, autosomal recessive Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA205314	rs_563858170	8 SubmittersRCV000192474 RCV000714630 RCV000710651 RCV004020311
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 SubmittersRCV000194024 RCV001853124
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 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA358236	rs_142378871	4 SubmittersRCV000210715 RCV000328675 RCV001289245 RCV002054357
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	Microcephaly 5, primary, autosomal recessive Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1309103	rs_149690383	6 SubmittersRCV001101795 RCV000727434 RCV004020707
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 SubmittersRCV000222163 RCV000727273 RCV003137830 RCV004020699 RCV003937863
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 SubmittersRCV000220667 RCV004786610
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 SubmittersRCV000298418 RCV001711512
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 SubmittersRCV000221876 RCV003454673
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 SubmittersRCV000294377 RCV000855492 RCV002503977
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 SubmittersRCV000402243 RCV001100191 RCV003957420
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 SubmittersRCV000307688 RCV000339532 RCV003967741
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 SubmittersRCV000346125 RCV000356948 RCV000726103
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 SubmittersRCV000383545 RCV002519459 RCV002059413
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 SubmittersRCV000375565 RCV000611741 RCV000975960
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 SubmittersRCV000311180 RCV000443169 RCV003556312
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 SubmittersRCV000328786 RCV002519461
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 SubmittersRCV000285661 RCV004678669
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 SubmittersRCV000382924 RCV000728600
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 SubmittersRCV000502887 RCV000710631 RCV000763786 RCV004021407
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 SubmittersRCV000328598 RCV003165795 RCV001850512
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 SubmittersRCV000282954 RCV000593526 RCV000710626
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 SubmittersRCV000365531 RCV000436668 RCV000899643
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 SubmittersRCV000328716 RCV000901975
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 SubmittersRCV000281092 RCV003311741
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 SubmittersRCV000337615 RCV000953432
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 SubmittersRCV000315450 RCV000595920 RCV002519464
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 SubmittersRCV000290161 RCV003417939
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 SubmittersRCV000288836 RCV001550101
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 SubmittersRCV000393055 RCV002059415
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 SubmittersRCV000313676 RCV002059412
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 SubmittersRCV000355862 RCV001697643 RCV002519463
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 SubmittersRCV000319232 RCV002059414
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 SubmittersRCV000340275 RCV001711768
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 SubmittersRCV000413862 RCV003449037
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.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 SubmittersRCV000421420 RCV000502418
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.9676T>G (p.Cys3226Gly)	SNV Germline	Chr1:197090349	Conflicting classifications of pathogenicity	not specified Condition: not provided Microcephaly 5, primary, autosomal recessive Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1308881	rs_142901223	7 SubmittersRCV000503336 RCV000727279 RCV001099802 RCV003258831
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.2977A>G (p.Lys993Glu)	SNV Germline	Chr1:197125151	Conflicting classifications of pathogenicity	not specified Condition: not provided Microcephaly 5, primary, autosomal recessive	Criteria Provided Conflicting Classifications	CA1310282	rs_576139929	5 SubmittersRCV000502837 RCV000890880 RCV001096778
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 SubmittersRCV000503898 RCV002527203
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.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 SubmittersRCV000522059 RCV002307530 RCV003133305
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 SubmittersRCV000579333 RCV002526938 RCV003451296
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 SubmittersRCV000597987 RCV002470922 RCV003952968
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 SubmittersRCV000593394 RCV002470923 RCV003962687
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 SubmittersRCV000606778 RCV000941595 RCV001096774 RCV002528549
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 SubmittersRCV001697913 RCV001102268
NM_018136.5(ASPM):c.7157A>G (p.His2386Arg)	SNV Germline	Chr1:197102094	Conflicting classifications of pathogenicity	Microcephaly 5, primary, autosomal recessive Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1309447	rs_137890991	4 SubmittersRCV001098226 RCV002529382 RCV001722567
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 SubmittersRCV000626188 RCV001821763
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	3 SubmittersRCV000627285 RCV000762873
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 SubmittersRCV000627284 RCV003451481
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter)	SNV Germline	Chr1:197101927	Pathogenic	Condition: not provided Microcephaly 5, primary, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts		rs_769364943	3 SubmittersRCV000710645 RCV003453512
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		rs_370972881	3 SubmittersRCV000734842 RCV003141734
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter)	SNV Germline	Chr1:197102332	Conflicting classifications of pathogenicity	Microcephaly 5, primary, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications		rs_142865061	4 SubmittersRCV000778956 RCV001873177
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter)	SNV Germline	Chr1:197104402	Pathogenic	Microcephaly 5, primary, autosomal recessive Autosomal recessive primary microcephaly Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_772050241	6 SubmittersRCV000778206 RCV003994113 RCV001552104
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)	SNV Germline	Chr1:197128563	Pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided Microcephaly 5, primary, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts		rs_774338373	3 SubmittersRCV000855491 RCV001816923 RCV003453775
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		rs_117668001	2 SubmittersRCV000914073 RCV001098225
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		rs_142766262	2 SubmittersRCV000916614 RCV001098424
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		rs_556849969	2 SubmittersRCV000943518 RCV003141902
NM_018136.5(ASPM):c.2761-11T>C	SNV Germline	Chr1:197128676	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly 5, primary, autosomal recessive	Criteria Provided Conflicting Classifications		rs_368239890	4 SubmittersRCV000991550 RCV001098530
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		rs_771273638	2 SubmittersRCV001098227 RCV002069659
NM_018136.5(ASPM):c.4975G>T (p.Val1659Phe)	SNV Germline	Chr1:197104276	Conflicting classifications of pathogenicity	Microcephaly 5, primary, autosomal recessive Condition: not provided ASPM-related disorder	Criteria Provided Conflicting Classifications		rs_560847421	4 SubmittersRCV001102099 RCV001552844 RCV003945810
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		rs_141695023	4 SubmittersRCV001102102 RCV003727854
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		rs_373469406	2 SubmittersRCV001098422 RCV003718313
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		rs_769421796	2 SubmittersRCV001100294 RCV002069687
NM_018136.5(ASPM):c.489A>G (p.Thr163=)	SNV Germline	Chr1:197143763	Conflicting classifications of pathogenicity	Microcephaly 5, primary, autosomal recessive Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_372355541	3 SubmittersRCV001096972 RCV002069633 RCV001819801
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		rs_200874183	2 SubmittersRCV001096973 RCV003718312
NM_018136.5(ASPM):c.3741+1G>C	SNV Unknown	Chr1:197122158	Pathogenic	Microcephaly 5, primary, autosomal recessive	No Assertion Criteria Provided			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		rs_759485449	4 SubmittersRCV001871752 RCV003449885
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		rs_77424753	3 SubmittersRCV001331028 RCV001384735
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		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		rs_1451306414	3 SubmittersRCV001331025 RCV001863234
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		rs_555866170	6 SubmittersRCV001335895 RCV001871878 RCV004960804
NM_018136.5(ASPM):c.2551A>T (p.Ile851Phe)	SNV Germline	Chr1:197129993	Likely pathogenic	Microcephaly 5, primary, autosomal recessive	No Assertion Criteria Provided		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		rs_375985254	5 SubmittersRCV001763031 RCV003451878 RCV003956349
NM_018136.5(ASPM):c.2760+1G>A	SNV Germline	Chr1:197129186	Pathogenic	Microcephaly 5, primary, autosomal recessive	Criteria Provided Single Submitter		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		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		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		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		rs_751326753	5 SubmittersRCV001817800 RCV003130553
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		rs_1657341426	2 SubmittersRCV001950973 RCV003444966
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		rs_2125096196	3 SubmittersRCV002226919 RCV003120842
NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter)	SNV Germline	Chr1:197091036	Pathogenic	Microcephaly 5, primary, autosomal recessive	Criteria Provided Single Submitter		rs_2125088498	1 SubmittersRCV002227856
NM_001371596.2(MFSD8):c.699-1G>A	SNV Germline	Chr4:127938839	Pathogenic	Neuronal ceroid lipofuscinosis 7 Microcephaly 5, primary, autosomal recessive	Criteria Provided Single Submitter		rs_1739594685	1 SubmittersRCV002267578 RCV002267579
NM_018136.5(ASPM):c.8191G>T (p.Glu2731Ter)	SNV Germline	Chr1:197101060	Pathogenic	Microcephaly 5, primary, autosomal recessive	Criteria Provided Single Submitter		rs_2125093662	1 SubmittersRCV002272845
NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys)	SNV Germline	Chr1:197103651	Conflicting classifications of pathogenicity	Microcephaly 5, primary, autosomal recessive Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications			3 SubmittersRCV002471538 RCV002573609 RCV004067591
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			3 SubmittersRCV002708112 RCV003140161 RCV004801304
NM_018136.5(ASPM):c.6808C>T (p.Gln2270Ter)	SNV Germline	Chr1:197102443	Likely pathogenic	Microcephaly 5, primary, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV003338196
NM_018136.5(ASPM):c.4039C>T (p.Gln1347Ter)	SNV Germline	Chr1:197117815	Likely pathogenic	Microcephaly 5, primary, autosomal recessive	Criteria Provided Single Submitter			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			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			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			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.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
Autosomal recessive primary microcephaly
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA340325

rs_137852994

10 SubmittersRCV000005248 RCV000214564 RCV001193347 RCV004955250

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 SubmittersRCV000005249 RCV002512801

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 SubmittersRCV000005253 RCV001851664

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 SubmittersRCV000020759 RCV000856770

NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter)

SNV
Unknown

Chr1:197125161

Pathogenic

Microcephaly 5, primary, autosomal recessive
Microcephaly 1, primary, autosomal recessive

Criteria Provided
Single Submitter

CA342233

rs_199422152

2 SubmittersRCV000020760 RCV000856771

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 SubmittersRCV000020771 RCV002513149

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 SubmittersRCV000020772 RCV000216421 RCV001193346 RCV001526516

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 SubmittersRCV000020773 RCV001384736

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 SubmittersRCV000020778 RCV000760370

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 SubmittersRCV000020780 RCV002223762

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 SubmittersRCV000020782 RCV003556062

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 SubmittersRCV000020784 RCV002466409

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 SubmittersRCV000020811 RCV000219573 RCV002287340

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 SubmittersRCV000020814 RCV000914111 RCV003964808

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 SubmittersRCV000020818 RCV000152802 RCV000710653

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

7 SubmittersRCV000020824 RCV000216613 RCV002251919

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 SubmittersRCV000020825 RCV000256150

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 SubmittersRCV002518410 RCV004796126

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 SubmittersRCV000145074 RCV000622496 RCV001857496

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 SubmittersRCV000145068 RCV001725127

NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys)

SNV
Germline

Chr1:197143245

Conflicting classifications of pathogenicity

not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided
ASPM-related disorder

Criteria Provided
Conflicting Classifications

CA270987

rs_112113370

6 SubmittersRCV000267551 RCV000145070 RCV000907315 RCV003965090

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 SubmittersRCV000145075 RCV001560972

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 SubmittersRCV000145078 RCV000171162

NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn)

SNV
Germline

Chr1:197142864

Conflicting classifications of pathogenicity

Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA271001

rs_587783218

5 SubmittersRCV000145082 RCV002514787 RCV001312116

NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp)

SNV
Germline

Chr1:197142535

Conflicting classifications of pathogenicity

Condition: not provided
not specified
ASPM-related disorder
Microcephaly 5, primary, autosomal recessive

Criteria Provided
Conflicting Classifications

CA271006

rs_144049904

8 SubmittersRCV000909704 RCV000337624 RCV003905249 RCV000274428

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 SubmittersRCV000145089 RCV000842161

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 SubmittersRCV000145099 RCV000222536 RCV001193345

NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)

SNV
Germline

Chr1:197128635

Pathogenic

Condition: not provided
Microcephaly 5, primary, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA271017

rs_587783227

5 SubmittersRCV000578788 RCV000145102

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 SubmittersRCV000145104 RCV000279948 RCV000909960 RCV003952696

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

not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided
ASPM-related disorder

Criteria Provided
Conflicting Classifications

CA271028

rs_149303254

6 SubmittersRCV000214044 RCV000145114 RCV000961914 RCV003945162

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 SubmittersRCV000145128 RCV002514790

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 SubmittersRCV000145129 RCV000728491

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 SubmittersRCV000145135 RCV000726421 RCV003965091

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 SubmittersRCV000145136 RCV000895490

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 SubmittersRCV000145139 RCV001849976

NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His)

SNV
Germline

Chr1:197104027

Conflicting classifications of pathogenicity

not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA271053

rs_143733126

6 SubmittersRCV000221848 RCV000145141 RCV000950617

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 SubmittersRCV000145142 RCV002514792

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 SubmittersRCV000175345 RCV000336358 RCV000965580 RCV003927420

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 SubmittersRCV000145146 RCV000891999

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
Inborn genetic diseases
Condition: not provided
ASPM-related disorder

Criteria Provided
Conflicting Classifications

CA271067

rs_186663906

6 SubmittersRCV000145153 RCV000329933 RCV004668803 RCV000910458 RCV003895022

NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)

SNV
Germline

Chr1:197103304

Conflicting classifications of pathogenicity

not specified
Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209608

rs_141715950

10 SubmittersRCV000195047 RCV000145155 RCV004668804 RCV000710082

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 SubmittersRCV000145162 RCV000175343 RCV000991552 RCV002514793 RCV003905251

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 SubmittersRCV000145163 RCV000994210

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
ASPM-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA271084

rs_151050191

9 SubmittersRCV000145168 RCV000210594 RCV000342070 RCV003917437 RCV000710641

NM_018136.5(ASPM):c.6717G>C (p.Leu2239=)

SNV
Germline

Chr1:197102534

Conflicting classifications of pathogenicity

not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA271086

rs_147100928

6 SubmittersRCV000418935 RCV000145169 RCV000953163

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 SubmittersRCV000145173 RCV003764882

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 SubmittersRCV000145176 RCV000886469 RCV003965092

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 SubmittersRCV000145182 RCV000593662

NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=)

SNV
Germline

Chr1:197101700

Conflicting classifications of pathogenicity

Microcephaly 5, primary, autosomal recessive
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA271099

rs_149228705

6 SubmittersRCV000145184 RCV000725934 RCV000385466

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 SubmittersRCV000145185 RCV000175352 RCV000908233

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 SubmittersRCV000145192 RCV000624327 RCV000710646 RCV001252170 RCV003905252

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 SubmittersRCV000145207 RCV002514796

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 SubmittersRCV000145210 RCV000902988 RCV001096975

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 SubmittersRCV000145211 RCV000710649 RCV003905253

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 SubmittersRCV000145213 RCV000907959

NM_018136.5(ASPM):c.844A>C (p.Asn282His)

SNV
Germline

Chr1:197143408

Conflicting classifications of pathogenicity

not specified
Microcephaly 5, primary, autosomal recessive
ASPM-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA271124

rs_113777932

6 SubmittersRCV000364012 RCV000145214 RCV003965093 RCV000907317

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

3 SubmittersRCV000145216 RCV002055871

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 SubmittersRCV000145217 RCV001857497

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 SubmittersRCV000145220 RCV000609920 RCV001857498 RCV002512567

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 SubmittersRCV000145222 RCV003556184

NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr)

SNV
Germline

Chr1:197143347

Conflicting classifications of pathogenicity

not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided
ASPM-related disorder

Criteria Provided
Conflicting Classifications

CA271138

rs_77736715

6 SubmittersRCV000361989 RCV000145224 RCV000907316 RCV003965094

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 SubmittersRCV000145227 RCV000625877 RCV000904302 RCV003935235 RCV004019763

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 SubmittersRCV000145235 RCV000221824

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 SubmittersRCV000145241 RCV000255897 RCV004955288

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 SubmittersRCV000145242 RCV000176582 RCV000991554 RCV003905254

NM_018136.5(ASPM):c.7620A>G (p.Ala2540=)

SNV
Germline

Chr1:197101631

Conflicting classifications of pathogenicity

Microcephaly 5, primary, autosomal recessive
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA208374

rs_147160053

6 SubmittersRCV000356625 RCV000723816 RCV000194290

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 SubmittersRCV000724422 RCV000763780 RCV002516673

NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln)

SNV
Germline

Chr1:197101023

Conflicting classifications of pathogenicity

Microcephaly 5, primary, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA241082

rs_202193200

3 SubmittersRCV001098118 RCV000175350

NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys)

SNV
Germline

Chr1:197101776

Conflicting classifications of pathogenicity

Microcephaly 5, primary, autosomal recessive
Condition: not provided
not specified
ASPM-related disorder

Criteria Provided
Conflicting Classifications

CA201410

rs_118010078

5 SubmittersRCV000386579 RCV000906357 RCV000175351 RCV003947484

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 SubmittersRCV000194304 RCV001101703 RCV001550843

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 SubmittersRCV000194402 RCV003221844

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
Condition: not provided
Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA209774

rs_115594989

5 SubmittersRCV000195143 RCV000725997 RCV001096687 RCV002517054

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 SubmittersRCV000194627 RCV000314198 RCV002517052

NM_018136.5(ASPM):c.933C>G (p.Ser311Arg)

SNV
Germline

Chr1:197143319

Conflicting classifications of pathogenicity

not specified
Microcephaly 5, primary, autosomal recessive
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA205314

rs_563858170

8 SubmittersRCV000192474 RCV000714630 RCV000710651 RCV004020311

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 SubmittersRCV000194024 RCV001853124

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
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA358236

rs_142378871

4 SubmittersRCV000210715 RCV000328675 RCV001289245 RCV002054357

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

Microcephaly 5, primary, autosomal recessive
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1309103

rs_149690383

6 SubmittersRCV001101795 RCV000727434 RCV004020707

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 SubmittersRCV000222163 RCV000727273 RCV003137830 RCV004020699 RCV003937863

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 SubmittersRCV000220667 RCV004786610

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 SubmittersRCV000298418 RCV001711512

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 SubmittersRCV000221876 RCV003454673

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 SubmittersRCV000294377 RCV000855492 RCV002503977

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 SubmittersRCV000402243 RCV001100191 RCV003957420

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 SubmittersRCV000307688 RCV000339532 RCV003967741

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 SubmittersRCV000346125 RCV000356948 RCV000726103

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 SubmittersRCV000383545 RCV002519459 RCV002059413

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 SubmittersRCV000375565 RCV000611741 RCV000975960

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 SubmittersRCV000311180 RCV000443169 RCV003556312

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 SubmittersRCV000328786 RCV002519461

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 SubmittersRCV000285661 RCV004678669

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 SubmittersRCV000382924 RCV000728600

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 SubmittersRCV000502887 RCV000710631 RCV000763786 RCV004021407

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 SubmittersRCV000328598 RCV003165795 RCV001850512

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 SubmittersRCV000282954 RCV000593526 RCV000710626

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 SubmittersRCV000365531 RCV000436668 RCV000899643

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 SubmittersRCV000328716 RCV000901975

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 SubmittersRCV000281092 RCV003311741

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 SubmittersRCV000337615 RCV000953432

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 SubmittersRCV000315450 RCV000595920 RCV002519464

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 SubmittersRCV000290161 RCV003417939

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 SubmittersRCV000288836 RCV001550101

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 SubmittersRCV000393055 RCV002059415

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 SubmittersRCV000313676 RCV002059412

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 SubmittersRCV000355862 RCV001697643 RCV002519463

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 SubmittersRCV000319232 RCV002059414

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 SubmittersRCV000340275 RCV001711768

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 SubmittersRCV000413862 RCV003449037

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.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 SubmittersRCV000421420 RCV000502418

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.9676T>G (p.Cys3226Gly)

SNV
Germline

Chr1:197090349

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1308881

rs_142901223

7 SubmittersRCV000503336 RCV000727279 RCV001099802 RCV003258831

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.2977A>G (p.Lys993Glu)

SNV
Germline

Chr1:197125151

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Microcephaly 5, primary, autosomal recessive

Criteria Provided
Conflicting Classifications

CA1310282

rs_576139929

5 SubmittersRCV000502837 RCV000890880 RCV001096778

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 SubmittersRCV000503898 RCV002527203

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.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 SubmittersRCV000522059 RCV002307530 RCV003133305

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 SubmittersRCV000579333 RCV002526938 RCV003451296

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 SubmittersRCV000597987 RCV002470922 RCV003952968

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 SubmittersRCV000593394 RCV002470923 RCV003962687

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 SubmittersRCV000606778 RCV000941595 RCV001096774 RCV002528549

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 SubmittersRCV001697913 RCV001102268

NM_018136.5(ASPM):c.7157A>G (p.His2386Arg)

SNV
Germline

Chr1:197102094

Conflicting classifications of pathogenicity

Microcephaly 5, primary, autosomal recessive
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1309447

rs_137890991

4 SubmittersRCV001098226 RCV002529382 RCV001722567

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 SubmittersRCV000626188 RCV001821763

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

3 SubmittersRCV000627285 RCV000762873

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 SubmittersRCV000627284 RCV003451481

NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter)

SNV
Germline

Chr1:197101927

Pathogenic

Condition: not provided
Microcephaly 5, primary, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

rs_769364943

3 SubmittersRCV000710645 RCV003453512

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

rs_370972881

3 SubmittersRCV000734842 RCV003141734

NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter)

SNV
Germline

Chr1:197102332

Conflicting classifications of pathogenicity

Microcephaly 5, primary, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142865061

4 SubmittersRCV000778956 RCV001873177

NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter)

SNV
Germline

Chr1:197104402

Pathogenic

Microcephaly 5, primary, autosomal recessive
Autosomal recessive primary microcephaly
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_772050241

6 SubmittersRCV000778206 RCV003994113 RCV001552104

NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)

SNV
Germline

Chr1:197128563

Pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Condition: not provided
Microcephaly 5, primary, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

rs_774338373

3 SubmittersRCV000855491 RCV001816923 RCV003453775

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

rs_117668001

2 SubmittersRCV000914073 RCV001098225

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

rs_142766262

2 SubmittersRCV000916614 RCV001098424

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

rs_556849969

2 SubmittersRCV000943518 RCV003141902

NM_018136.5(ASPM):c.2761-11T>C

SNV
Germline

Chr1:197128676

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly 5, primary, autosomal recessive

Criteria Provided
Conflicting Classifications

rs_368239890

4 SubmittersRCV000991550 RCV001098530

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

rs_771273638

2 SubmittersRCV001098227 RCV002069659

NM_018136.5(ASPM):c.4975G>T (p.Val1659Phe)

SNV
Germline

Chr1:197104276

Conflicting classifications of pathogenicity

Microcephaly 5, primary, autosomal recessive
Condition: not provided
ASPM-related disorder

Criteria Provided
Conflicting Classifications

rs_560847421

4 SubmittersRCV001102099 RCV001552844 RCV003945810

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

rs_141695023

4 SubmittersRCV001102102 RCV003727854

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

rs_373469406

2 SubmittersRCV001098422 RCV003718313

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

rs_769421796

2 SubmittersRCV001100294 RCV002069687

NM_018136.5(ASPM):c.489A>G (p.Thr163=)

SNV
Germline

Chr1:197143763

Conflicting classifications of pathogenicity

Microcephaly 5, primary, autosomal recessive
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_372355541

3 SubmittersRCV001096972 RCV002069633 RCV001819801

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

rs_200874183

2 SubmittersRCV001096973 RCV003718312

NM_018136.5(ASPM):c.3741+1G>C

SNV
Unknown

Chr1:197122158

Pathogenic

Microcephaly 5, primary, autosomal recessive

No Assertion Criteria Provided

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

rs_759485449

4 SubmittersRCV001871752 RCV003449885

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

rs_77424753

3 SubmittersRCV001331028 RCV001384735

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

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

rs_1451306414

3 SubmittersRCV001331025 RCV001863234

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

rs_555866170

6 SubmittersRCV001335895 RCV001871878 RCV004960804

NM_018136.5(ASPM):c.2551A>T (p.Ile851Phe)

SNV
Germline

Chr1:197129993

Likely pathogenic

Microcephaly 5, primary, autosomal recessive

No Assertion Criteria Provided

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

rs_375985254

5 SubmittersRCV001763031 RCV003451878 RCV003956349

NM_018136.5(ASPM):c.2760+1G>A

SNV
Germline

Chr1:197129186

Pathogenic

Microcephaly 5, primary, autosomal recessive

Criteria Provided
Single Submitter

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

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

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

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

rs_751326753

5 SubmittersRCV001817800 RCV003130553

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

rs_1657341426

2 SubmittersRCV001950973 RCV003444966

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

rs_2125096196

3 SubmittersRCV002226919 RCV003120842

NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter)

SNV
Germline

Chr1:197091036

Pathogenic

Microcephaly 5, primary, autosomal recessive

Criteria Provided
Single Submitter

rs_2125088498

1 SubmittersRCV002227856

NM_001371596.2(MFSD8):c.699-1G>A

SNV
Germline

Chr4:127938839

Pathogenic

Neuronal ceroid lipofuscinosis 7
Microcephaly 5, primary, autosomal recessive

Criteria Provided
Single Submitter

rs_1739594685

1 SubmittersRCV002267578 RCV002267579

NM_018136.5(ASPM):c.8191G>T (p.Glu2731Ter)

SNV
Germline

Chr1:197101060

Pathogenic

Microcephaly 5, primary, autosomal recessive

Criteria Provided
Single Submitter

rs_2125093662

1 SubmittersRCV002272845

NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys)

SNV
Germline

Chr1:197103651

Conflicting classifications of pathogenicity

Microcephaly 5, primary, autosomal recessive
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002471538 RCV002573609 RCV004067591

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

3 SubmittersRCV002708112 RCV003140161 RCV004801304

NM_018136.5(ASPM):c.6808C>T (p.Gln2270Ter)

SNV
Germline

Chr1:197102443

Likely pathogenic

Microcephaly 5, primary, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV003338196

NM_018136.5(ASPM):c.4039C>T (p.Gln1347Ter)

SNV
Germline

Chr1:197117815

Likely pathogenic

Microcephaly 5, primary, autosomal recessive

Criteria Provided
Single Submitter

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

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

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

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