| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|---|---|---|---|
| FGFR3 G65R | insufficiently evaluated not reviewed, f=0.001 | unknown | var-GS18942-1100-36-ASM | |
| FGFR3 S84L | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| FGFR3 S130F | insufficiently evaluated not reviewed | unknown | ||
| FGFR3 R248C | insufficiently evaluated pathogenic | unknown |
(338 web hits) | |
| FGFR3 S249C | insufficiently evaluated pathogenic | unknown |
(295 web hits) | |
| FGFR3 P250R | insufficiently evaluated pathogenic | unknown |
(350 web hits) | |
| FGFR3 L259Shift | insufficiently evaluated not reviewed | unknown | ||
| FGFR3 Y278C | insufficiently evaluated pathogenic | unknown |
(9 web hits) | |
| FGFR3 S279C | insufficiently evaluated pathogenic | unknown |
(10 web hits) | |
| FGFR3 E322K | insufficiently evaluated pathogenic | unknown |
(6 web hits) | |
| FGFR3 S329L | insufficiently evaluated not reviewed | unknown | CGI sample GS01173-DNA_H06 from PGP sample 91708424 | |
| FGFR3 P337S | insufficiently evaluated not reviewed | unknown | ||
| FGFR3 G370C | insufficiently evaluated pathogenic | unknown |
(81 web hits) | |
| FGFR3 S371C | insufficiently evaluated pathogenic | unknown |
(47 web hits) | |
| FGFR3 Y373C | insufficiently evaluated pathogenic | unknown |
(195 web hits) | |
| FGFR3 G375C | insufficiently evaluated pathogenic | unknown |
(132 web hits) | |
| FGFR3 A391E | insufficiently evaluated pathogenic | unknown |
(57 web hits) | |
| FGFR3 P449S | insufficiently evaluated not reviewed, f=0.008 | unknown | ||
| FGFR3 P451S | insufficiently evaluated not reviewed, f=0.003 | unknown | CGI sample GS00253-DNA_C01_200_37 | |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 | ||||
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 | ||||
| FGFR3 D513N | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| FGFR3 I538V | insufficiently evaluated pathogenic | unknown |
(39 web hits) | |
| FGFR3 N540S | insufficiently evaluated pathogenic | unknown |
(29 web hits) | |
| FGFR3 N540T | insufficiently evaluated pathogenic | unknown |
(30 web hits) | |
| FGFR3 R621H | insufficiently evaluated pathogenic | unknown |
(30 web hits) | |
| FGFR3 K650Q | insufficiently evaluated pathogenic | unknown |
(57 web hits) | |
| FGFR3 K650E | insufficiently evaluated pathogenic | unknown |
(444 web hits) | |
| FGFR3 K650M | insufficiently evaluated pathogenic | unknown |
(150 web hits) | |
| FGFR3 K652Q | insufficiently evaluated pathogenic | unknown |
(16 web hits) | |
| Page: 1 2 3 Total results: 28 | ||||