Unique variants in the FGFR3 gene

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

164 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
./. 1 - c.-1723743_*1566648del r.0? p.0? - pathogenic g.71552_3375637del - - - IDUA_000000 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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
+/. 1 - c. 1138G>A r.(?) p.(Gly380Arg) - pathogenic g.1806119G>A - - - FGFR3_000056 - - - - Germline - - - - - Sha Hong
-?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Leiden
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
?/. 1 - c.244G>A r.(?) p.(Val82Met) - VUS g.1801115G>A g.1799388G>A - - FGFR3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - 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
-?/. 1 - c.252G>A r.(?) p.(Ser84=) - likely benign g.1801123G>A g.1799396G>A - - FGFR3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - 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, VKGL-NL_Nijmegen
-/., -?/. 3 - c.348C>T r.(?) p.(Arg116=) - benign, 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, VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.379G>A r.(?) p.(Asp127Asn) - VUS g.1801250G>A g.1799523G>A - - FGFR3_000097 - - - - Germline - - - - - Anshuman Sewda
-?/. 1 - 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
-?/. 4 - 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, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - 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
-?/. 1 - 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
-/. 3 - 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, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - 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
-/., -?/. 5 - c.445+3A>G r.spl? p.? - benign, 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 1 homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs3135868 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
-?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Leiden
-?/. 2 - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 3 - 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, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/., -?/. 6 - c.588C>T r.(=), r.(?) p.(=), p.(Arg196=) - benign, 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 1 homozygous; Clinindb (India), 71 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs2305180 CLASSIFICATION record, Germline - 1/2793 individuals, 71/2793 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC, Mohammed Faruq
-/. 4 - c.603T>C r.(=), r.(?) p.(=), 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 1 homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs2305181 CLASSIFICATION record, Germline - 1/2794 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC, Mohammed Faruq
-/., -?/. 3 - c.615+8C>G r.(=) p.(=) - benign, 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, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - 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 - - - - - VKGL-NL_Groningen
-/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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
-/., -?/. 3 - c.663G>A r.(?) p.(Ser221=) - benign, 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, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - 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 - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.678C>T r.(?) p.(Tyr226=) - benign, likely 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, VKGL-NL_Rotterdam
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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 - - - - - VKGL-NL_VUmc
+/. 5 - c.742C>T r.(?) p.(Arg248Cys) ACMG pathogenic, pathogenic (dominant) g.1803564C>T g.1801837C>T FGFR3(NM_000142.4):c.742C>T (p.R248C), NM_000142.4:c.742C>T:p.(Arg248Cys) - FGFR3_000018 ACMG PS2, PS4, VKGL data sharing initiative Nederland PubMed: Maddirevula 2018, PubMed: Tang 2021 - - CLASSIFICATION record, De novo, Germline - - - - - Johan den Dunnen, Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 2 - 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_Rotterdam, VKGL-NL_Nijmegen
+/. 6 7 c.749C>G r.(?) p.(Pro250Arg) - pathogenic g.1803571C>G g.1801844C>G 749G>C, FGFR3(NM_000142.4):c.749C>G (p.P250R), FGFR3(NM_001163213.1):c.749C>G (p.P250R) - FGFR3_000003, FGFR3_000019 VKGL data sharing initiative Nederland PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - rs4647924 CLASSIFICATION record, De novo, Germline, Unknown - - - - - Karen E. Heath, Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - 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, VKGL-NL_Utrecht
-/. 4 - 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_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 2 - 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_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - 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
-?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.931-634C>T r.(=) p.(=) - VUS g.1804785C>T g.1803058C>T - - FGFR3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.931-31G>A r.(=) p.(=) - likely benign, VUS g.1805388G>A g.1803661G>A - - FGFR3_000010 VKGL data sharing initiative Nederland - - rs3135884 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Nijmegen
-?/. 1 - c.931-20G>A r.(=) p.(=) - likely benign g.1805399G>A g.1803672G>A - - FGFR3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.955A>G r.(?) p.(Lys319Glu) - likely benign g.1805443A>G g.1803716A>G FGFR3(NM_000142.4):c.955A>G (p.K319E) - FGFR3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.985G>A r.(?) p.(Val329Ile) - VUS g.1805473G>A g.1803746G>A FGFR3(NM_000142.4):c.985G>A (p.V329I) - FGFR3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.990C>T r.(?) p.(Thr330=) - likely benign g.1805478C>T g.1803751C>T FGFR3(NM_000142.4):c.990C>T (p.(=)) - FGFR3_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 8 c.1000G>A r.(?) p.(Ala334Thr) - likely pathogenic g.1805488G>A g.1803761G>A - - FGFR3_000004 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Germline yes - - - - Karen E. Heath
-/., -?/. 4 - c.1014C>T r.(?) p.(Thr338=) - benign, likely benign g.1805502C>T g.1803775C>T FGFR3(NM_000142.4):c.1014C>T (p.(=), p.T338=), FGFR3(NM_001354809.1):c.1014C>T (p.T338=) - FGFR3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.1039T>C r.(?) p.(Phe347Leu) - likely benign g.1805527T>C g.1803800T>C FGFR3(NM_000142.4):c.1039T>C (p.(Phe347Leu)) - FGFR3_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1055C>T r.(?) p.(Ala352Val) - VUS g.1805543C>T g.1803816C>T - - FGFR3_000011 - - - - Germline - - - - - Andreas Laner
-/., -?/. 5 - c.1075+5C>T r.spl? p.? - benign, likely benign g.1805568C>T g.1803841C>T FGFR3(NM_000142.4):c.1075+5C>T (, p.?) - FGFR3_000048 71 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs3135885 CLASSIFICATION record, Germline - 71/2794 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc, Mohammed Faruq
-/. 2 - c.1075+30G>C r.(=) p.(=) - benign g.1805593G>C g.1803866G>C FGFR3(NM_000142.4):c.1075+30G>C - FGFR3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.1076-40G>C r.(=) p.(=) - likely benign g.1806017G>C g.1804290G>C - - FGFR3_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1076-34del r.(=) p.(=) - benign g.1806023del g.1804296del - - FGFR3_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1076-33C>G r.(=) p.(=) - likely benign g.1806024C>G g.1804297C>G - - FGFR3_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1076-24G>T r.(=) p.(=) - benign g.1806033G>T g.1804306G>T FGFR3(NM_000142.4):c.1076-24G>T - FGFR3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.1076-17C>T r.(=) p.(=) - benign, likely benign g.1806040C>T g.1804313C>T FGFR3(NM_000142.4):c.1076-17C>T (, p.(=)) - FGFR3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/., -?/. 3 - c.1076-16G>A r.(=) p.(=) - benign, likely benign g.1806041G>A g.1804314G>A FGFR3(NM_000142.4):c.1076-16G>A (p.(=)) - FGFR3_000012 VKGL data sharing initiative Nederland - - rs3135889 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Leiden, VKGL-NL_Nijmegen
-/., -?/. 4 - c.1076-13C>T r.(=) p.(=) - benign, likely benign g.1806044C>T g.1804317C>T FGFR3(NM_000142.4):c.1076-13C>T (, p.(=)) - FGFR3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1106C>G r.(?) p.(Ala369Gly) - likely benign g.1806087C>G g.1804360C>G FGFR3(NM_000142.4):c.1106C>G (p.A369G) - FGFR3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1108G>A r.(?) p.(Gly370Ser) - likely benign g.1806089G>A g.1804362G>A - - FGFR3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1108G>T r.(?) p.(Gly370Cys) - pathogenic g.1806089G>T g.1804362G>T - - FGFR3_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 - c.1111A>T r.(?) p.(Ser371Cys) - pathogenic g.1806092A>T g.1804365A>T FGFR3(NM_000142.4):c.1111A>T (p.S371C) - FGFR3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 1 - c.1118A>G r.(?) p.(Tyr373Cys) - pathogenic g.1806099A>G g.1804372A>G FGFR3(NM_000142.4):c.1118A>G (p.Y373C) - FGFR3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1130T>G r.(?) p.(Leu377Arg) - VUS g.1806111T>G g.1804384T>G - - FGFR3_000165 no interpretation available; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs267606809 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. 1 - c.1135T>A r.(?) p.(Tyr379Asn) - VUS g.1806116T>A g.1804389T>A FGFR3(NM_000142.4):c.1135T>A (p.Y379N) - FGFR3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/. 9 - c.1138G>A r.(?) p.(Gly380Arg) ACMG pathogenic, pathogenic (dominant), VUS g.1806119G>A g.1804392G>A FGFR3(NM_000142.4):c.1138G>A (p.G380R), NM_000142.4:c.1138G>A:p.(Gly380Arg) - FGFR3_000056 ACMG PS2, PS4, VKGL data sharing initiative Nederland, 1 more item PubMed: Maddirevula 2018, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Tang 2021 - rs28931614 CLASSIFICATION record, De novo, Germline - 1/2795 individuals - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, Mohammed Faruq
+/. 1 - c.1138G>C r.(?) p.(Gly380Arg) - pathogenic g.1806119G>C g.1804392G>C FGFR3(NM_000142.4):c.1138G>C (p.G380R) - FGFR3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1150T>C r.(?) p.(Phe384Leu) - likely benign g.1806131T>C g.1804404T>C FGFR3(NM_000142.4):c.1150T>C (p.(Phe384Leu)), FGFR3(NM_001163213.1):c.1156T>C (p.F386L) - FGFR3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.1165G>C r.(?) p.(Val389Leu) - likely benign g.1806146G>C g.1804419G>C FGFR3(NM_000142.4):c.1165G>C (p.V389L) - FGFR3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 7 9 c.1172C>A r.(?) p.(Ala391Glu) - likely pathogenic, pathogenic, pathogenic (dominant) g.1806153C>A g.1804426C>A FGFR3(NM_000142.4):c.1172C>A (p.A391E), NM_000142.4:c.1172C>A:p.(Ala391Glu) - FGFR3_000005 VKGL data sharing initiative Nederland PubMed: Maddirevula 2018, PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - CLASSIFICATION record, De novo, Unknown - - - - - Karen E. Heath, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1181C>T r.(?) p.(Thr394Met) - likely benign g.1806162C>T g.1804435C>T FGFR3(NM_000142.4):c.1181C>T (p.(Thr394Met)) - FGFR3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1227C>T r.(?) p.(Pro409=) - VUS g.1806208C>T g.1804481C>T FGFR3(NM_000142.4):c.1227C>T (p.(=)) - FGFR3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1238A>G r.(?) p.(Lys413Arg) - VUS g.1806219A>G g.1804492A>G FGFR3(NM_000142.4):c.1238A>G (p.K413R) - FGFR3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1266+25C>T r.(=) p.(=) - likely benign g.1806272C>T g.1804545C>T FGFR3(NM_000142.4):c.1266+25C>T - FGFR3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.1266+64C>T r.(=) p.(=) - VUS g.1806311C>T g.1804584C>T - - FGFR3_000014 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.1266+134C>T r.(=) p.(=) - likely benign g.1806381C>T g.1804654C>T - - FGFR3_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1267-32C>T r.(=) p.(=) - benign g.1806519C>T g.1804792C>T - - FGFR3_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1280C>T r.(?) p.(Ser427Phe) - VUS g.1806564C>T g.1804837C>T FGFR3(NM_000142.4):c.1280C>T (p.S427F) - FGFR3_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.1345C>T r.(?) p.(Pro449Ser) - benign, likely benign g.1806629C>T g.1804902C>T FGFR3(NM_000142.4):c.1345C>T (p.(Pro449Ser)) - FGFR3_000063 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs61735104 CLASSIFICATION record, Germline - 2/2789 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
-/., -?/. 3 - c.1349C>T r.(?) p.(Thr450Met) - benign, likely benign g.1806633C>T g.1804906C>T FGFR3(NM_000142.4):c.1349C>T (p.(Thr450Met), p.T450M) - FGFR3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.1371C>T r.(?) p.(Leu457=) - likely benign g.1806655C>T g.1804928C>T FGFR3(NM_000142.4):c.1371C>T (p.L457=) - FGFR3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1379C>T r.(?) p.(Pro460Leu) - VUS g.1806663C>T - FGFR3(NM_000142.4):c.1379C>T (p.P460L) - FGFR3_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1413-40C>T r.(=) p.(=) - VUS g.1807042C>T g.1805315C>T - - FGFR3_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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