Project HERA

ATR variants

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

6 variants

ATR variants

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

6 shown

Variant

Protein change

Classification

ATR NM_001184.3:c.2804A>C

NP_001175.2:p.(Q935P)

ATR NM_001184.3:c.2112G>T

NP_001175.2:p.(K704N)

ATR NM_001184.3:c.6680A>G

NP_001175.2:p.(N2227S)

ATR NM_001184.3:c.1751A>G

NP_001175.2:p.(D584G)

ATR NM_001184.3:c.1316A>G

NP_001175.2:p.(N439S)

ATR NM_001184.3:c.5459_5460insC

NP_001175.2:p.(D1821*)

Likely Pathogenic