| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TM4SF19-DYNLT2B, DYNLT2B
+1 more (G12D) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 17 with or without polydactyly | |
| | TM4SF19, TM4SF19-DYNLT2B (C14fs) | Duplication (non-coding transcript variant +1 more) | not provided | |
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