Total 27 pathogenic variants reported for Microcephaly 8, primary, autosomal recessive

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_025009.5(CEP135):c.638T>C (p.Val213Ala)	SNV Germline	Chr4:55959705	Conflicting classifications of pathogenicity	not specified Condition: not provided Microcephaly 8, primary, autosomal recessive	Criteria Provided Conflicting Classifications	CA203335	rs_150331261	5 SubmittersRCV000179536 RCV000884409 RCV001007672
NM_025009.5(CEP135):c.2534T>C (p.Val845Ala)	SNV Germline	Chr4:56011440	Conflicting classifications of pathogenicity	not specified Microcephaly 8, primary, autosomal recessive Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA205275	rs_141330867	4 SubmittersRCV000192448 RCV001334252 RCV001852550 RCV004020313
NM_025009.5(CEP135):c.1473+1G>A	SNV Germline	Chr4:55974970	Pathogenic	Microcephaly 8, primary, autosomal recessive	No Assertion Criteria Provided	CA356985452	rs_1085307120	1 SubmittersRCV000477712
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)	SNV Germline	Chr4:55965689	Pathogenic/Likely pathogenic	Microcephaly 8, primary, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2927699	rs_752140135	6 SubmittersRCV000599697 RCV001703213
NM_025009.5(CEP135):c.993A>T (p.Arg331Ser)	SNV Germline	Chr4:55965808	Conflicting classifications of pathogenicity	Microcephaly 8, primary, autosomal recessive Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2927721	rs_140748251	4 SubmittersRCV001007671 RCV001869309 RCV002536203
NM_025009.5(CEP135):c.3211A>T (p.Lys1071Ter)	SNV Germline	Chr4:56019551	Pathogenic/Likely pathogenic	Microcephaly 8, primary, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2928345	rs_200676378	5 SubmittersRCV001255738 RCV001569496
NM_025009.5(CEP135):c.3215+2T>C	SNV Unknown	Chr4:56019557	Likely pathogenic	Microcephaly 8, primary, autosomal recessive Sarcoma	No Assertion Criteria Provided	CA356974806	rs_1236457610	2 SubmittersRCV001255771 RCV005909233
NM_025009.5(CEP135):c.2722C>T (p.Arg908Ter)	SNV Germline	Chr4:56011905	Pathogenic	Microcephaly 8, primary, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA97585558	rs_186530606	4 SubmittersRCV001261593 RCV001574228
NM_025009.5(CEP135):c.2863C>T (p.Arg955Ter)	SNV Germline	Chr4:56017708	Pathogenic	Microcephaly 8, primary, autosomal recessive	No Assertion Criteria Provided	CA356971645	rs_1730824213	1 SubmittersRCV001580589
NM_025009.5(CEP135):c.1408C>T (p.Arg470Ter)	SNV Germline	Chr4:55974904	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly 8, primary, autosomal recessive	Criteria Provided Conflicting Classifications		rs_138291324	3 SubmittersRCV004775137 RCV006686149
NM_025009.5(CEP135):c.3247C>T (p.Arg1083Ter)	SNV Germline	Chr4:56020707	Pathogenic/Likely pathogenic	Condition: not provided Microcephaly 8, primary, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA356976025	rs_1730945388	3 SubmittersRCV001817705 RCV006684012
NM_025009.5(CEP135):c.2990C>A (p.Ser997Ter)	SNV Germline	Chr4:56017835	Pathogenic/Likely pathogenic	Microcephaly 8, primary, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2928300	rs_146076380	2 SubmittersRCV005412576 RCV003664037
NM_025009.5(CEP135):c.1474-2A>G	SNV Germline	Chr4:55980141	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly 8, primary, autosomal recessive	Criteria Provided Conflicting Classifications	CA2927886	rs_202125581	2 SubmittersRCV003831804 RCV005220769
NM_025009.5(CEP135):c.473-1G>C	SNV Germline	Chr4:55957222	Likely pathogenic	Microcephaly 8, primary, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004691652
NM_025009.5(CEP135):c.3325C>T (p.Arg1109Ter)	SNV Germline	Chr4:56024505	Likely pathogenic	Microcephaly 8, primary, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV005360349
NM_025009.5(CEP135):c.1252C>T (p.Arg418Ter)	SNV Germline	Chr4:55974748	Pathogenic	Condition: not provided Microcephaly 8, primary, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV006544710 RCV006635618
NM_025009.5(CEP135):c.1405C>T (p.Gln469Ter)	SNV Germline	Chr4:55974901	Pathogenic	Microcephaly 8, primary, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV006635669
NM_025009.5(CEP135):c.1597A>T (p.Arg533Ter)	SNV Germline	Chr4:55980266	Likely pathogenic	Microcephaly 8, primary, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV006696633