Project HERA

SMARCA4 variants

Every SMARCA4 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

8 variants

SMARCA4 variants

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

8 shown

Variant

Protein change

Classification

SMARCA4 NM_001128849.1:c.335C>T

NP_001122321.1:p.(P112L)

SMARCA4 NM_001128849.1:c.3484G>A

NP_001122321.1:p.(G1162S)

Likely Pathogenic

SMARCA4 NM_001128849.1:c.4927G>T

NP_001122321.1:p.(G1643C)

SMARCA4 NM_001128849.1:c.2764T>A

NP_001122321.1:p.(W922R)

SMARCA4 NM_001128849.1:c.1813-2A>T

NP_001122321.1:p.?

Likely Pathogenic

SMARCA4 NM_001128849.3:c.3894C>T

NP_001122321.1:p.(D1298=)

SMARCA4 NM_001128849.1:c.1944-1G>T

NP_001122321.1:p.?

Likely Pathogenic

SMARCA4 NM_001128849.1:c.1333C>T

NP_001122321.1:p.(Q445*)

Likely Pathogenic