Mosaic variegated aneuploidy

Disease Term Disease ID Gene Symbol Classification References Source
mosaic variegated aneuploidy C4733331 BUB1B Causal Pathogenic evidence from ClinVar - ClinVar
Mosaic variegated aneuploidy syndrome 1052 BUB1B Causal Pathogenic evidence from ClinVar - ClinVar
CEP57 Causal Pathogenic evidence from ClinVar - ClinVar
TRIP13 Causal Pathogenic evidence from ClinVar - ClinVar
BUB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BUB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Mosaic variegated aneuploidy syndrome 1 C1850343 BUB1B Causal Pathogenic evidence from ClinVar 15475955, 16411201, 18932004, 21190457, 24344301, 24981203 ClinVar
CEP57 Causal Pathogenic evidence from ClinVar 21552266, 24259107, 28553959 ClinVar
TRIP13 Causal Pathogenic evidence from ClinVar 28553959 ClinVar
BUB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23747338 -
BUB1B-PAK6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BUB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23747338 -
PAK6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 C3279843 CEP57 Causal Pathogenic evidence from ClinVar 12116237, 14654843, 17803911, 21552266, 22508265, 23569207, 24259107, 26743940, 30010053, 30035751, 30147898 ClinVar
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 C4539839 TRIP13 Causal Pathogenic evidence from ClinVar 28553959 ClinVar