All variants in the FGFR3 gene

Information The variants shown are described using the NM_000142.4 transcript reference sequence.

274 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. - c.-1723743_*1566648del r.0? p.0? - pathogenic g.71552_3375637del - - - IDUA_000000 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.-103+7G>T r.(=) p.(=) - likely benign g.1795199G>T g.1793472G>T FGFR3(NM_000142.4):c.-103+7G>T (p.(=)) - FGFR3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-102-7C>T r.(=) p.(=) - likely benign g.1795553C>T g.1793826C>T FGFR3(NM_000142.4):c.-102-7C>T - FGFR3_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-102-3T>C r.spl? p.? - likely benign g.1795557T>C g.1793830T>C FGFR3(NM_000142.4):c.-102-3T>C (p.(=)) - FGFR3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c. 1138G>A r.(?) p.(Gly380Arg) - pathogenic g.1806119G>A - - - FGFR3_000056 - - - - Germline - - - - - Sha Hong
-?/. - c.75G>A r.(?) p.(Leu25=) - likely benign g.1795736G>A - FGFR3(NM_001163213.1):c.75G>A (p.L25=) - FGFR3_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.87G>C r.(?) p.(Gln29His) - VUS g.1795748G>C g.1794021G>C FGFR3(NM_000142.4):c.87G>C (p.(Gln29His)) - FGFR3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.109+26G>A r.(=) p.(=) - benign g.1795796G>A g.1794069G>A FGFR3(NM_000142.4):c.109+26G>A - FGFR3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.110-67C>T r.(=) p.(=) - likely benign g.1800914C>T g.1799187C>T - - FGFR3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.159C>T r.(?) p.(Ser53=) - likely benign g.1801030C>T g.1799303C>T - - FGFR3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.184C>T r.(?) p.(Pro62Ser) - likely benign g.1801055C>T g.1799328C>T FGFR3(NM_000142.4):c.184C>T (p.(Pro62Ser)) - FGFR3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.193G>A r.(?) p.(Gly65Arg) - likely benign g.1801064G>A g.1799337G>A FGFR3(NM_000142.4):c.193G>A (p.G65R) - FGFR3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.201T>C r.(?) p.(Gly67=) - likely benign g.1801072T>C g.1799345T>C - - FGFR3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.212C>T r.(?) p.(Pro71Leu) - likely benign g.1801083C>T g.1799356C>T FGFR3(NM_000142.4):c.212C>T (p.P71L) - FGFR3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.234C>G r.(?) p.(Gly78=) - likely benign g.1801105C>G g.1799378C>G - - FGFR3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.244G>A r.(?) p.(Val82Met) - VUS g.1801115G>A g.1799388G>A - - FGFR3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.251C>T r.(?) p.(Ser84Leu) - pathogenic g.1801122C>T g.1799395C>T - - FGFR3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.252G>A r.(?) p.(Ser84=) - likely benign g.1801123G>A g.1799396G>A - - FGFR3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.277C>T r.(?) p.(Arg93Trp) - VUS g.1801148C>T g.1799421C>T FGFR3(NM_000142.4):c.277C>T (p.(Arg93Trp)) - FGFR3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.277C>T r.(?) p.(Arg93Trp) - VUS g.1801148C>T g.1799421C>T FGFR3(NM_000142.4):c.277C>T (p.(Arg93Trp)) - FGFR3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.348C>T r.(?) p.(Arg116=) - benign g.1801219C>T g.1799492C>T FGFR3(NM_000142.4):c.348C>T (p.R116=, p.(=)) - FGFR3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.348C>T r.(?) p.(Arg116=) - benign g.1801219C>T g.1799492C>T FGFR3(NM_000142.4):c.348C>T (p.R116=, p.(=)) - FGFR3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.348C>T r.(?) p.(Arg116=) - likely benign g.1801219C>T g.1799492C>T FGFR3(NM_000142.4):c.348C>T (p.R116=, p.(=)) - FGFR3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.379G>A r.(?) p.(Asp127Asn) - VUS g.1801250G>A g.1799523G>A - - FGFR3_000097 - - - - Germline - - - 0 - Anshuman Sewda
-?/. - c.379+37C>T r.(=) p.(=) - likely benign g.1801287C>T g.1799560C>T - - FGFR3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.393G>A r.(?) p.(Ser131=) - likely benign g.1801487G>A g.1799760G>A FGFR3(NM_000142.4):c.393G>A (p.(=), p.S131=), FGFR3(NM_001163213.1):c.393G>A (p.S131=) - FGFR3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.393G>A r.(?) p.(Ser131=) - likely benign g.1801487G>A g.1799760G>A FGFR3(NM_000142.4):c.393G>A (p.(=), p.S131=), FGFR3(NM_001163213.1):c.393G>A (p.S131=) - FGFR3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.393G>A r.(?) p.(Ser131=) - likely benign g.1801487G>A g.1799760G>A FGFR3(NM_000142.4):c.393G>A (p.(=), p.S131=), FGFR3(NM_001163213.1):c.393G>A (p.S131=) - FGFR3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.393G>A r.(?) p.(Ser131=) - likely benign g.1801487G>A g.1799760G>A FGFR3(NM_000142.4):c.393G>A (p.(=), p.S131=), FGFR3(NM_001163213.1):c.393G>A (p.S131=) - FGFR3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.408C>T r.(?) p.(Asp136=) - likely benign g.1801502C>T - FGFR3(NM_001163213.1):c.408C>T (p.D136=) - FGFR3_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.411G>C r.(?) p.(Gly137=) - likely benign g.1801505G>C g.1799778G>C - - FGFR3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.417C>T r.(?) p.(Asp139=) - benign g.1801511C>T g.1799784C>T FGFR3(NM_000142.4):c.417C>T (p.D139=, p.(=)) - FGFR3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.417C>T r.(?) p.(Asp139=) - benign g.1801511C>T g.1799784C>T FGFR3(NM_000142.4):c.417C>T (p.D139=, p.(=)) - FGFR3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.417C>T r.(?) p.(Asp139=) - benign g.1801511C>T g.1799784C>T FGFR3(NM_000142.4):c.417C>T (p.D139=, p.(=)) - FGFR3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.445+2_445+5del r.spl? p.? - pathogenic g.1801541_1801544del - FGFR3(NM_001163213.1):c.444_445+2delAGGT - FGFR3_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.445+3A>G r.spl? p.? - benign g.1801542A>G g.1799815A>G FGFR3(NM_000142.4):c.445+3A>G (, p.?), FGFR3(NM_001163213.1):c.445+3A>G - FGFR3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.445+3A>G r.spl? p.? - benign g.1801542A>G g.1799815A>G FGFR3(NM_000142.4):c.445+3A>G (, p.?), FGFR3(NM_001163213.1):c.445+3A>G - FGFR3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.445+3A>G r.spl? p.? - likely benign g.1801542A>G g.1799815A>G FGFR3(NM_000142.4):c.445+3A>G (, p.?), FGFR3(NM_001163213.1):c.445+3A>G - FGFR3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.445+3A>G r.spl? p.? - likely benign g.1801542A>G g.1799815A>G FGFR3(NM_000142.4):c.445+3A>G (, p.?), FGFR3(NM_001163213.1):c.445+3A>G - FGFR3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.445+3A>G r.spl? p.? - benign g.1801542A>G g.1799815A>G - - FGFR3_000028 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3135868 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. - c.445+31C>G r.(=) p.(=) - likely benign g.1801570C>G g.1799843C>G - - FGFR3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.473G>A r.(?) p.(Arg158Gln) - VUS g.1803121G>A g.1801394G>A FGFR3(NM_000142.4):c.473G>A (p.(Arg158Gln)) - FGFR3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.490C>G r.(?) p.(Leu164Val) - likely benign g.1803138C>G g.1801411C>G FGFR3(NM_000142.4):c.490C>G (p.L164V, p.(Leu164Val)) - FGFR3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.490C>G r.(?) p.(Leu164Val) - likely benign g.1803138C>G g.1801411C>G FGFR3(NM_000142.4):c.490C>G (p.L164V, p.(Leu164Val)) - FGFR3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.514G>A r.(?) p.(Val172Ile) - likely benign g.1803162G>A g.1801435G>A FGFR3(NM_000142.4):c.514G>A (p.(Val172Ile), p.V172I) - FGFR3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.514G>A r.(?) p.(Val172Ile) - likely benign g.1803162G>A g.1801435G>A FGFR3(NM_000142.4):c.514G>A (p.(Val172Ile), p.V172I) - FGFR3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.514G>A r.(?) p.(Val172Ile) - likely benign g.1803162G>A g.1801435G>A FGFR3(NM_000142.4):c.514G>A (p.(Val172Ile), p.V172I) - FGFR3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.588C>T r.(?) p.(Arg196=) - benign g.1803236C>T g.1801509C>T FGFR3(NM_000142.4):c.588C>T (p.R196=, p.(=)), FGFR3(NM_001163213.1):c.588C>T (p.R196=) - FGFR3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.588C>T r.(?) p.(Arg196=) - benign g.1803236C>T g.1801509C>T FGFR3(NM_000142.4):c.588C>T (p.R196=, p.(=)), FGFR3(NM_001163213.1):c.588C>T (p.R196=) - FGFR3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.588C>T r.(?) p.(Arg196=) - benign g.1803236C>T g.1801509C>T FGFR3(NM_000142.4):c.588C>T (p.R196=, p.(=)), FGFR3(NM_001163213.1):c.588C>T (p.R196=) - FGFR3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.588C>T r.(?) p.(Arg196=) - likely benign g.1803236C>T g.1801509C>T FGFR3(NM_000142.4):c.588C>T (p.R196=, p.(=)), FGFR3(NM_001163213.1):c.588C>T (p.R196=) - FGFR3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.588C>T r.(?) p.(Arg196=) - benign g.1803236C>T g.1801509C>T - - FGFR3_000032 71 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2305180 Germline - 71/2793 individuals - 0 - Mohammed Faruq
-/. - c.588C>T r.(=) p.(=) - benign g.1803236C>T g.1801509C>T - - FGFR3_000032 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2305180 Germline - 1/2793 individuals - 0 - Mohammed Faruq
-/. - c.603T>C r.(?) p.(Ile201=) - benign g.1803251T>C g.1801524T>C FGFR3(NM_000142.4):c.603T>C (p.I201=, p.(=)), FGFR3(NM_001163213.1):c.603T>C (p.I201=) - FGFR3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.603T>C r.(?) p.(Ile201=) - benign g.1803251T>C g.1801524T>C FGFR3(NM_000142.4):c.603T>C (p.I201=, p.(=)), FGFR3(NM_001163213.1):c.603T>C (p.I201=) - FGFR3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.603T>C r.(?) p.(Ile201=) - benign g.1803251T>C g.1801524T>C FGFR3(NM_000142.4):c.603T>C (p.I201=, p.(=)), FGFR3(NM_001163213.1):c.603T>C (p.I201=) - FGFR3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.603T>C r.(=) p.(=) - benign g.1803251T>C g.1801524T>C - - FGFR3_000117 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2305181 Germline - 1/2794 individuals - 0 - Mohammed Faruq
-?/. - c.615+8C>G r.(=) p.(=) - likely benign g.1803271C>G g.1801544C>G FGFR3(NM_000142.4):c.615+8C>G (p.(=), ) - FGFR3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.615+8C>G r.(=) p.(=) - likely benign g.1803271C>G g.1801544C>G FGFR3(NM_000142.4):c.615+8C>G (p.(=), ) - FGFR3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.615+8C>G r.(=) p.(=) - benign g.1803271C>G g.1801544C>G FGFR3(NM_000142.4):c.615+8C>G (p.(=), ) - FGFR3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.615+16T>G r.(=) p.(=) - likely benign g.1803279T>G g.1801552T>G FGFR3(NM_001163213.1):c.615+16T>G - FGFR3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.616-40T>C r.(=) p.(=) - benign g.1803307T>C g.1801580T>C - - FGFR3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.616-30G>A r.(=) p.(=) - likely benign g.1803317G>A g.1801590G>A - - FGFR3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.654G>C r.(?) p.(Val218=) - likely benign g.1803385G>C g.1801658G>C FGFR3(NM_000142.4):c.654G>C (p.(=)) - FGFR3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.663G>A r.(?) p.(Ser221=) - benign g.1803394G>A g.1801667G>A FGFR3(NM_000142.4):c.663G>A (p.S221=), FGFR3(NM_001163213.1):c.663G>A (p.S221=) - FGFR3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.663G>A r.(?) p.(Ser221=) - likely benign g.1803394G>A g.1801667G>A FGFR3(NM_000142.4):c.663G>A (p.S221=), FGFR3(NM_001163213.1):c.663G>A (p.S221=) - FGFR3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.663G>A r.(?) p.(Ser221=) - likely benign g.1803394G>A g.1801667G>A FGFR3(NM_000142.4):c.663G>A (p.S221=), FGFR3(NM_001163213.1):c.663G>A (p.S221=) - FGFR3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.673A>C r.(?) p.(Asn225His) - VUS g.1803404A>C g.1801677A>C FGFR3(NM_000142.4):c.673A>C (p.(Asn225His)) - FGFR3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.678C>T r.(?) p.(Tyr226=) - benign g.1803409C>T g.1801682C>T FGFR3(NM_000142.4):c.678C>T (p.(=)), FGFR3(NM_001163213.1):c.678C>T (p.Y226=) - FGFR3_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.678C>T r.(?) p.(Tyr226=) - likely benign g.1803409C>T - FGFR3(NM_000142.4):c.678C>T (p.(=)), FGFR3(NM_001163213.1):c.678C>T (p.Y226=) - FGFR3_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.739+16C>T r.(=) p.(=) - likely benign g.1803486C>T g.1801759C>T FGFR3(NM_000142.4):c.739+16C>T - FGFR3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.740-18C>T r.(=) p.(=) - likely benign g.1803544C>T g.1801817C>T FGFR3(NM_000142.4):c.740-18C>T - FGFR3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.742C>T r.(?) p.(Arg248Cys) - pathogenic g.1803564C>T g.1801837C>T - - FGFR3_000018 - - - - Germline - - - 0 - Andreas Laner
+/. - c.742C>T r.(?) p.(Arg248Cys) - pathogenic g.1803564C>T g.1801837C>T FGFR3(NM_000142.4):c.742C>T (p.R248C) - FGFR3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.742C>T r.(?) p.(Arg248Cys) - pathogenic g.1803564C>T g.1801837C>T FGFR3(NM_000142.4):c.742C>T (p.R248C) - FGFR3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.742C>T r.(?) p.(Arg248Cys) - pathogenic (dominant) g.1803564C>T g.1801837C>T NM_000142.4:c.742C>T:p.(Arg248Cys) - FGFR3_000018 - PubMed: Maddirevula 2018 - - De novo - - - 0 - -
+/. - c.742C>T r.(?) p.(Arg248Cys) ACMG pathogenic (dominant) g.1803564C>T g.1801837C>T - - FGFR3_000018 ACMG PS2, PS4 PubMed: Tang 2021 - - De novo - - - 0 - Johan den Dunnen
+/. - c.746C>G r.(?) p.(Ser249Cys) - pathogenic g.1803568C>G g.1801841C>G FGFR3(NM_000142.4):c.746C>G (p.S249C) - FGFR3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.746C>G r.(?) p.(Ser249Cys) - pathogenic g.1803568C>G g.1801841C>G FGFR3(NM_000142.4):c.746C>G (p.S249C) - FGFR3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 7 c.749C>G r.(?) p.(Pro250Arg) - pathogenic g.1803571C>G g.1801844C>G 749G>C - FGFR3_000003 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - De novo - - - 0 - Karen E. Heath
+/. 7 c.749C>G r.(?) p.(Pro250Arg) - pathogenic g.1803571C>G g.1801844C>G - - FGFR3_000003 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - Karen E. Heath
+/. - c.749C>G r.(?) p.(Pro250Arg) - pathogenic g.1803571C>G g.1801844C>G - - FGFR3_000003 - - - rs4647924 Germline - - - 0 - Andreas Laner
+/. - c.749C>G r.(?) p.(Pro250Arg) - pathogenic g.1803571C>G g.1801844C>G FGFR3(NM_000142.4):c.749C>G (p.P250R), FGFR3(NM_001163213.1):c.749C>G (p.P250R) - FGFR3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.749C>G r.(?) p.(Pro250Arg) - pathogenic g.1803571C>G g.1801844C>G FGFR3(NM_000142.4):c.749C>G (p.P250R), FGFR3(NM_001163213.1):c.749C>G (p.P250R) - FGFR3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.749C>G r.(?) p.(Pro250Arg) - pathogenic g.1803571C>G - FGFR3(NM_000142.4):c.749C>G (p.P250R), FGFR3(NM_001163213.1):c.749C>G (p.P250R) - FGFR3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.749C>T r.(?) p.(Pro250Leu) - VUS g.1803571C>T - FGFR3(NM_001163213.1):c.749C>T (p.P250L) - FGFR3_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.753C>G r.(?) p.(His251Gln) - VUS g.1803575C>G g.1801848C>G FGFR3(NM_000142.4):c.753C>G (p.H251Q) - FGFR3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.807C>T r.(?) p.(Ser269=) - benign g.1803629C>T g.1801902C>T FGFR3(NM_000142.4):c.807C>T (p.S269=) - FGFR3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.870C>T r.(?) p.(His290=) - likely benign g.1803692C>T g.1801965C>T FGFR3(NM_001163213.1):c.870C>T (p.H290=) - FGFR3_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.870C>T r.(?) p.(His290=) - likely benign g.1803692C>T g.1801965C>T FGFR3(NM_001163213.1):c.870C>T (p.H290=) - FGFR3_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.882T>C r.(?) p.(Asn294=) - benign g.1803704T>C g.1801977T>C FGFR3(NM_000142.4):c.882T>C (p.N294=), FGFR3(NM_001163213.1):c.882T>C (p.N294=) - FGFR3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.882T>C r.(?) p.(Asn294=) - benign g.1803704T>C g.1801977T>C FGFR3(NM_000142.4):c.882T>C (p.N294=), FGFR3(NM_001163213.1):c.882T>C (p.N294=) - FGFR3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.882T>C r.(?) p.(Asn294=) - benign g.1803704T>C g.1801977T>C FGFR3(NM_000142.4):c.882T>C (p.N294=), FGFR3(NM_001163213.1):c.882T>C (p.N294=) - FGFR3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.882T>C r.(?) p.(Asn294=) - benign g.1803704T>C g.1801977T>C FGFR3(NM_000142.4):c.882T>C (p.N294=), FGFR3(NM_001163213.1):c.882T>C (p.N294=) - FGFR3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.915C>T r.(?) p.(Tyr305=) - likely benign g.1803737C>T g.1802010C>T FGFR3(NM_000142.4):c.915C>T (p.Y305=) - FGFR3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.915C>T r.(?) p.(Tyr305=) - likely benign g.1803737C>T g.1802010C>T FGFR3(NM_000142.4):c.915C>T (p.Y305=) - FGFR3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.931-745C>T r.(=) p.(=) - VUS g.1804674C>T g.1802947C>T FGFR3(NM_001163213.1):c.964C>T (p.R322C) - FGFR3_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.931-722G>A r.(=) p.(=) - likely benign g.1804697G>A - FGFR3(NM_001163213.1):c.987G>A (p.S329=) - FGFR3_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.931-646G>A r.(=) p.(=) - VUS g.1804773G>A g.1803046G>A FGFR3(NM_001163213.1):c.1063G>A (p.(Val355Ile)) - FGFR3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.931-634C>T r.(=) p.(=) - VUS g.1804785C>T g.1803058C>T - - FGFR3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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