| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | FUZ, LOC105372435 (G119W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | FUZ-related disorder | |
| | FUZ, LOC105372435 (G215R +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FUZ, LOC105372435
+1 more (P177L +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | FUZ-related disorder | |
| | | Deletion (inframe_deletion +1 more) | See cases | |
| | FUZ, LOC105372435
+1 more (E151K +2 more) | Single nucleotide variant (missense variant +1 more) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | FUZ, LOC105372435
+1 more (V159L +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FUZ, LOC105372435 (P182S +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FUZ, LOC105372435 (L117V +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | FUZ, LOC105372435
+1 more (S175fs +2 more) | Duplication (frameshift variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Deletion (stop lost +1 more) | not provided | |
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