| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SGSH, CARD14
+1 more (R826W) | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | CARD14, LOC126862662
+1 more (R888P) | Single nucleotide variant (missense variant +1 more) | CARD14-related disorder | |
| | CARD14, LOC126862662
+1 more | Single nucleotide variant (intron variant) | CARD14-related disorder +2 more | |
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