| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis, susceptibility to, 24 +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly +2 more | |
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