| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | MYO18B-AS1, MYO18B (R1464W +1 more) | Single nucleotide variant (missense variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +2 more | |
| | MYO18B, MYO18B-AS1 (E1530K +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | MYO18B, MYO18B-AS1 (C1589Y +1 more) | Single nucleotide variant (missense variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
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