Total 22 pathogenic variants reported for Mosaic variegated aneuploidy syndrome 2

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_014679.5(CEP57):c.241C>T (p.Arg81Ter)	SNV Germline	Chr11:95812970	Pathogenic	Mosaic variegated aneuploidy syndrome 2	Criteria Provided Single Submitter	CA129400	rs_387906977	2 SubmittersRCV000023670
NM_014679.5(CEP57):c.89G>C (p.Arg30Pro)	SNV Germline	Chr11:95799275	Conflicting classifications of pathogenicity	Condition: not provided Mosaic variegated aneuploidy syndrome 2	Criteria Provided Conflicting Classifications	CA235845	rs_577173144	2 SubmittersRCV000171200 RCV001331874
NM_014679.5(CEP57):c.677G>A (p.Arg226His)	SNV Germline	Chr11:95818882	Conflicting classifications of pathogenicity	Mosaic variegated aneuploidy syndrome 2 CEP57-related disorder	Criteria Provided Conflicting Classifications	CA6239561	rs_143711180	3 SubmittersRCV000525894 RCV003935493
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe)	SNV Germline	Chr11:95799281	Conflicting classifications of pathogenicity	Mosaic variegated aneuploidy syndrome 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6239364	rs_139110744	3 SubmittersRCV000649345 RCV002530531
NM_014679.5(CEP57):c.1117C>T (p.Gln373Ter)	SNV Germline	Chr11:95828017	Pathogenic	Mosaic variegated aneuploidy syndrome 2	Criteria Provided Single Submitter		rs_1565334264	1 SubmittersRCV000696209
NM_014679.5(CEP57):c.25G>A (p.Ala9Thr)	SNV Germline	Chr11:95790723	Conflicting classifications of pathogenicity	Mosaic variegated aneuploidy syndrome 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_150749300	2 SubmittersRCV000796113 RCV004027554
NM_014679.5(CEP57):c.451C>T (p.Arg151Ter)	SNV Germline	Chr11:95813536	Pathogenic	Mosaic variegated aneuploidy syndrome 2	Criteria Provided Single Submitter		rs_771182933	1 SubmittersRCV000797548
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser)	SNV Germline	Chr11:95821935	Conflicting classifications of pathogenicity	Mosaic variegated aneuploidy syndrome 2 CEP57-related disorder	Criteria Provided Conflicting Classifications		rs_768269976	3 SubmittersRCV000863097 RCV003955597
NM_014679.5(CEP57):c.778A>T (p.Lys260Ter)	SNV Germline	Chr11:95821949	Pathogenic	Mosaic variegated aneuploidy syndrome 2	Criteria Provided Single Submitter		rs_773014425	1 SubmittersRCV001205462
NM_014679.5(CEP57):c.1063G>A (p.Gly355Ser)	SNV Germline	Chr11:95827963	Conflicting classifications of pathogenicity	Mosaic variegated aneuploidy syndrome 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_202115720	2 SubmittersRCV001203249 RCV004033566
NM_014679.5(CEP57):c.382+2T>C	SNV Germline	Chr11:95813113	Pathogenic	Mosaic variegated aneuploidy syndrome 2	Criteria Provided Single Submitter		rs_1862141371	1 SubmittersRCV001255701
NM_014679.5(CEP57):c.1484G>A (p.Ser495Asn)	SNV Germline	Chr11:95831237	Conflicting classifications of pathogenicity	Mosaic variegated aneuploidy syndrome 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_753006983	2 SubmittersRCV001301964 RCV003284153
NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter)	SNV Germline	Chr11:95827915	Pathogenic	Mosaic variegated aneuploidy syndrome 2	Criteria Provided Multiple Submitters No Conflicts		rs_1399711421	2 SubmittersRCV001331873
NM_014679.5(CEP57):c.523C>T (p.Arg175Ter)	SNV Germline	Chr11:95817805	Pathogenic	Mosaic variegated aneuploidy syndrome 2	Criteria Provided Single Submitter		rs_775752088	1 SubmittersRCV001923710
NM_014679.5(CEP57):c.46-2A>T	SNV Germline	Chr11:95799230	Likely pathogenic	Mosaic variegated aneuploidy syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV003078596
NM_014679.5(CEP57):c.622-2A>G	SNV Germline	Chr11:95818825	Likely pathogenic	Mosaic variegated aneuploidy syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV003641647
NM_014679.5(CEP57):c.699+1G>T	SNV Germline	Chr11:95818905	Likely pathogenic	Mosaic variegated aneuploidy syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV003640818