| | | Copy number gain | See cases | |
| | LOC126863153, LOC126863154 +2088 more | Copy number gain | See cases | |
| | LOC112695092, LOC112695093 +1004 more | Copy number gain | See cases | |
| | LOC130067848, LOC130067849 +687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125446244, LOC130067573 +78 more | Deletion | Immunodeficiency, common variable, 4 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067673, LOC130067674 +580 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | TNFRSF13C-related condition | |
| | | Indel (frameshift variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 4 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 4 | |
| | | Deletion (splice donor variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Microsatellite (inframe_insertion) | Immunodeficiency, common variable, 4 | |
| | LOC130067574, TNFRSF13C (A111S) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | LOC130067574, TNFRSF13C (R109C) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Deletion (inframe_deletion) | Immunodeficiency, common variable, 4 | |
| | TNFRSF13C, LOC130067574 (R106Q) | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | GConflicting classifications of pathogenicity |
| | LOC130067574, TNFRSF13C (V99L) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | LOC130067574, TNFRSF13C (G97S) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Deletion (inframe_indel +1 more) | Immunodeficiency, common variable, 4 | |
| | | Duplication (inframe_insertion) | Immunodeficiency, common variable, 4 | |
| | | Deletion (inframe_deletion) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | TNFRSF13C-related condition +1 more | |
| | LOC130067574, TNFRSF13C (L93P) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Duplication (inframe_insertion) | Immunodeficiency, common variable, 4 | |
| | | Deletion (inframe_deletion) | Immunodeficiency, common variable, 4 | |
| | | Insertion (inframe_insertion) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | LOC130067574, TNFRSF13C (G86V) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Common Variable Immune Deficiency, Recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | GConflicting classifications of pathogenicity |
| | LOC130067574, TNFRSF13C (P82L) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | LOC130067574, TNFRSF13C (P82S) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | LOC130067574, TNFRSF13C (G80D) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130067574, TNFRSF13C (G80S) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | TNFRSF13C-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | LOC130067574, TNFRSF13C (G76W) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | |
| | LOC130067574, TNFRSF13C (P75L) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | LOC130067574, TNFRSF13C (P75H) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 4 | |
| | | Deletion (inframe_deletion) | Immunodeficiency, common variable, 4 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 4 | GConflicting classifications of pathogenicity |