Project HERA

KIT variants

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

6 variants

KIT variants

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

6 shown

Variant

Protein change

Classification

KIT NM_000222.2:c.1679_1738delinsATG

NP_000213.1:p.(V560_H580delinsDD)

KIT NM_000222.2:c.1652_1663del

NP_000213.1:p.(P551_V555delinsL)

Likely Pathogenic

KIT NM_000222.2:c.1725_1739dup

NP_000213.1:p.(Q575_D579dup)

Likely Pathogenic

KIT NM_000222.3:c.-14T>A

NP_000213.1:p.?

KIT NM_000222.2:c.1990+8C>T

NP_000213.1:p.?

KIT NM_000222.2:c.148G>T

NP_000213.1:p.(V50L)