| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TTN, TTN-AS1 (R32033fs +5 more) | Duplication (frameshift variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Indel (missense variant +1 more) | Generalized hypotonia +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +10 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 2 +8 more | |
| | | Single nucleotide variant (missense variant) | Sensory neuropathy +7 more | |
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