Project HERA

CREBBP variants

Every CREBBP variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

6 variants

CREBBP variants

Newest first. Each row opens the full report, criterion by criterion.

6 shown

Variant

Protein change

Classification

CREBBP NM_004380.2:c.7299C>A

NP_004371.2:p.(D2433E)

CREBBP NM_004380.2:c.3780-2A>G

NP_004371.2:p.?

Likely Pathogenic

CREBBP NM_004380.2:c.3710G>C

NP_004371.2:p.(C1237S)

CREBBP NM_004380.2:c.3215C>G

NP_004371.2:p.(S1072C)

CREBBP NM_004380.2:c.3609+1G>T

NP_004371.2:p.?

CREBBP NM_004380.2:c.5671G>A

NP_004371.2:p.(G1891R)