Data Browser

Examples - Gene: SCN1A, Genes: COL4A5,GNB1,NGLY1,SCN1A,SCN2A

Query: AMMECR1


Diagnosis Gene Genetic Diagnosis CLIA Confirmed? Zygosity Type of Mutation of Variant A CLIA ACMG Classification of Variant A Type of Mutation of Variant B CLIA ACMG Classification of Variant B Sex Age Group Phenotype
AMMECR1 Yes Heterozygous NON_SYNONYMOUS_CODING VUS Not applicable Not applicable M Pediatric Unidentified Congenital Disorder