| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (inframe_deletion) | Charcot-Marie-Tooth disease type 1F | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1F | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +10 more | GPathogenic/Likely pathogenic |
| | CSGALNACT1, SFTPC +77 more | Copy number gain | Autism +7 more | |
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