Aliases: BAFFR, CD268.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Common Variable Immunodeficiency | susceptibility |
mechanism: BAFF/APRIL Receptor Signaling Deficiency
subtype: CVID4
scoped to subtype: CVID4
|
| Immunodeficiency Common Variable 4 | causative germline loss of function |
mechanism: Biallelic TNFRSF13C Loss of Function
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| immunodeficiency, common variable, 4 MONDO:0013284 | AR | Limited 2021-04-13 |
Common Variable Immunodeficiency
susceptibility
Immunodeficiency Common Variable 4
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.