| FGFR3基因变异 | 来源 | 例数 | 男/女 (例) | ACMG致病性评级及依据 |
|---|---|---|---|---|
| 软骨发育不全 | 52 | 26/22* | ||
| c.1138G>A(p. Gly380Arg) | 新发 | 50 | 25/21* | P(PS1+PS3+PS4+PM1+PP3+PP4) |
| 母亲 | 2 | 1/1 | ||
| 软骨发育不良 | 24 | 12/12 | ||
| c.1620C>G(p. Asn540Lys) | 新发 | 11 | 4/7 | P(PS1+PS3+PS4+PM1+PM2+PP3) |
| 母亲 | 1 | 1/0 | ||
| c.1620C>A(p. Asn540Lys) | 新发 | 7 | 4/3 | P(PS1+PS3+PS4+PM1+PM2+PP3) |
| c.791C>T(p. Thr264Met)$ | 母亲 | 1 | 1/0 | P(PS1+PM1+PM2+PP3+PP5) |
| c.833A>G(p. Tyr278Cys) | 新发 | 1 | 0/1 | LP(PM1+PM2+PP3+PP5) |
| c.1127T>A(p. Ile376Asn) | 母亲 | 1 | 1/0 | LP(PM1+PM2+PP3+PP5) |
| c.1612A>G(p. Ile538Val) | 母亲 | 1 | 0/1 | LP(PM1+PM2+PP3+PP5) |
| c.1619A>G(p. Asn540Ser) | 父亲 | 1 | 1/0 | P(PS1+PM1+PM2+PP3+PP5) |
| 严重软骨发育不全伴发育迟缓和黑棘皮病 | 2 | 0/2 | ||
| c.1948A>C(p. Lys650Gln) | 新发 | 1 | 0/1 | P(PS1+PM1+PM2+PM6+PP3+PP5) |
| c.1949A>C(p. Lys650Thr) | 新发 | 1 | 0/1 | P(PS1+PS2+PM1+PM2+PP3+PP5) |
| 致死性侏儒症 | 9 | NA# | ||
| c.742C>T(p. Arg248Cys) | 新发 | 6 | NA# | P(PS1+PS3+PS4+PM1+PM2+PP3) |
| c.1118A>G(p. Tyr373Cys) | 新发 | 1 | NA# | P(PS1+PS3+PS4+PM1+PM2+PP3) |
| c.1948A>G(p. Lys650Glu) | 新发 | 1 | NA# | P(PS1+PS3+PS4+PM1+PM2+PP3) |
| c.2421A>G(p. *807Trpext*101) | 新发 | 1 | NA# | P(PS1+PM2+PM4+PP3+PP5) |
| Muenke综合征 | 1 | 0/1 | ||
| c.749C>G(p. Pro250Arg) | 新发 | 1 | 0/1 | P(PS1+PS3+PM1+PM2+PP3) |
| Crouzon综合征伴黑棘皮病 | 1 | 0/1 | ||
| c.1172C>A(p. Ala391Glu) | 新发 | 1 | 1/0 | P(PS1+PM1+PM2+PP3+PP5) |
| 泪-耳-牙-指(趾)综合征/Levy-Hollister综合征 | 1 | 0/1 | ||
| c.1537G>A(p. Asp513Asn) | 父亲 | 1 | 0/1 | VUS(PM1+PM2+PP3) |
| 临床未确诊& | 5 | 2/3 | ||
| c.402C>G(p. Asp134Glu)ω | 父亲 | 1 | 0/1 | VUS(PM2+BP4) |
| c.1078G>A(p. Glu360Lys) | 父亲 | 1 | 1/0 | VUS(PM2) |
| c.1135T>C(p. Tyr379His)@ | 母亲 | 1 | 0/1 | LP(PM1+PM2+PP3+PP5) |
| c.1663G>T(p. Val555Leu)ψ | 母亲 | 1 | 0/1 | LP(PM1+PM2+PM5+PP3) |
| c.2005C>G(p. Arg669Gly)ζ | 新发 | 1 | 1/0 | VUS(PM1+PM2+PP3) |
