| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Achondroplasia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epidermal nevus +31 more | |
| | | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +17 more | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | FGFR3-related CATSHL syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Connective tissue disorder +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Craniosynostosis syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Thanatophoric dysplasia type 1 +3 more | |
| | | Single nucleotide variant (stop lost +2 more) | not provided | |
| | | Copy number loss | 4p partial monosomy syndrome | |
| | JAKMIP1, KIAA0232
+90 more | Copy number loss | 4p partial monosomy syndrome | |
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