Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | LOC126806173, IFT172 (R1225Q) | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Asphyxiating thoracic dystrophy 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Asphyxiating thoracic dystrophy 1 | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Microsatellite (inframe_deletion) | Saldino-Mainzer syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Asphyxiating thoracic dystrophy 1 +1 more | |
| | ABCG5, DYNC2LI1 (E334* +1 more) | Single nucleotide variant (nonsense +1 more) | Asphyxiating thoracic dystrophy 1 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
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