Total 29 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 SubmittersRCV000171200RCV001331874
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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6239561 rs_143711180

4 SubmittersRCV000525894RCV003935493RCV004975665
NM_014679.5(CEP57):c.751C>T (p.Pro251Ser) SNV
Germline		 Chr11:95821922 Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6239585 rs_149293164

3 SubmittersRCV000538321RCV004975666
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

4 SubmittersRCV000649345RCV002530531
NM_014679.5(CEP57):c.1117C>T (p.Gln373Ter) SNV
Germline		 Chr11:95828017 Pathogenic Mosaic variegated aneuploidy syndrome 2 Criteria Provided
Single Submitter
 CA382408601 rs_1565334264

1 SubmittersRCV000696209
NM_014679.5(CEP57):c.1273C>T (p.Leu425=) SNV
Germline		 Chr11:95831026 Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6239769 rs_758465541

2 SubmittersRCV000697740RCV005532740
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
 CA6239301 rs_150749300

2 SubmittersRCV000796113RCV004027554
NM_014679.5(CEP57):c.451C>T (p.Arg151Ter) SNV
Germline		 Chr11:95813536 Pathogenic Mosaic variegated aneuploidy syndrome 2 Criteria Provided
Single Submitter
 CA382422078 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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6239588 rs_768269976

4 SubmittersRCV000863097RCV003955597RCV004973043
NM_014679.5(CEP57):c.39C>G (p.His13Gln) SNV
Germline		 Chr11:95790737 Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6239307 rs_531068389

2 SubmittersRCV001037335RCV004973254
NM_014679.5(CEP57):c.778A>T (p.Lys260Ter) SNV
Germline		 Chr11:95821949 Pathogenic Mosaic variegated aneuploidy syndrome 2 Criteria Provided
Single Submitter
 CA382405301 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
 CA6239675 rs_202115720

2 SubmittersRCV001203249RCV004033566
NM_014679.5(CEP57):c.382+2T>C SNV
Germline		 Chr11:95813113 Pathogenic Mosaic variegated aneuploidy syndrome 2 Criteria Provided
Single Submitter
 CA382421295 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
 CA6239796 rs_753006983

2 SubmittersRCV001301964RCV003284153
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
 CA382408102 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
 CA382422682 rs_775752088

1 SubmittersRCV001923710
NM_014679.5(CEP57):c.1128T>C (p.Phe376=) SNV
Germline		 Chr11:95829187 Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA476304059 rs_2496336087

2 SubmittersRCV003052824RCV005535500
NM_014679.5(CEP57):c.46-2A>T SNV
Germline		 Chr11:95799230 Likely pathogenic Mosaic variegated aneuploidy syndrome 2 Criteria Provided
Single Submitter
 CA382415363 rs_1284736469

1 SubmittersRCV003078596
NM_014679.5(CEP57):c.983A>G (p.Asn328Ser) SNV
Germline		 Chr11:95827883 Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA226586269 rs_1005543441

2 SubmittersRCV002971887RCV005308873
NM_014679.5(CEP57):c.622-2A>G SNV
Germline		 Chr11:95818825 Likely pathogenic Mosaic variegated aneuploidy syndrome 2 Criteria Provided
Single Submitter
 CA382423616 rs_2496263182

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
 CA382424168 rs_1452779317

1 SubmittersRCV003640818
NM_014679.5(CEP57):c.973C>T (p.Arg325Ter) SNV
Germline		 Chr11:95827873 Pathogenic Mosaic variegated aneuploidy syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005004753
NM_014679.5(CEP57):c.1061A>G (p.Asn354Ser) SNV
Germline		 Chr11:95827961 Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005142214RCV005311185