Unique variants in the FGFR2 gene

Information The variants shown are described using the NM_000141.4 transcript reference sequence.

145 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.-12023610_*88560dup - - - pathogenic g.123150811_135380935dup - - - ACADSB_000015 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.-74G>A r.(?) p.(=) - likely benign g.123353405C>T g.121593891C>T - - FGFR2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.17G>C r.(?) p.(Arg6Pro) - benign g.123353315C>G g.121593801C>G FGFR2(NM_000141.4):c.17G>C (p.R6P) - FGFR2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.23T>G r.(?) p.(Ile8Ser) - likely benign g.123353309A>C g.121593795A>C FGFR2(NM_000141.4):c.23T>G (p.I8S) - FGFR2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.43A>G r.(?) p.(Met15Val) - likely benign g.123353289T>C - FGFR2(NM_000141.4):c.43A>G (p.(Met15Val)) - FGFR2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.101A>T r.(?) p.(Glu34Val) - VUS g.123353231T>A - FGFR2(NM_022970.3):c.101A>T (p.E34V) - FGFR2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/., -?/. 2 - c.109+10T>G r.(=) p.(=) - benign, likely benign g.123353213A>C g.121593699A>C FGFR2(NM_022970.3):c.109+10T>G - FGFR2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.110-26G>A r.(=) p.(=) - benign g.123325244C>T g.121565730C>T FGFR2(NM_000141.4):c.110-26G>A - FGFR2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.110-16_110-15del r.(=) p.(=) - benign g.123325239_123325240del g.121565725_121565726del FGFR2(NM_000141.4):c.110-16_110-15delTC - FGFR2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.144A>C r.(?) p.(Glu48Asp) - likely benign g.123325184T>G g.121565670T>G FGFR2(NM_022970.3):c.144A>C (p.E48D) - FGFR2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.159G>A r.(?) p.(Ala53=) - likely benign g.123325169C>T g.121565655C>T FGFR2(NM_000141.4):c.159G>A (p.A53=) - FGFR2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.170C>T r.(?) p.(Ser57Leu) - benign, likely benign g.123325158G>A g.121565644G>A FGFR2(NM_000141.4):c.170C>T (p.(Ser57Leu), p.S57L), FGFR2(NM_022970.3):c.170C>T (p.S57L) - FGFR2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.181C>T r.(?) p.(Arg61Cys) - VUS g.123325147G>A g.121565633G>A FGFR2(NM_000141.4):c.181C>T (p.R61C) - FGFR2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.199G>A r.(?) p.(Ala67Thr) - VUS g.123325129C>T - FGFR2(NM_000141.4):c.199G>A (p.A67T) - FGFR2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.293C>T r.(?) p.(Thr98Met) - association g.123325035G>A g.121565521G>A FGFR2 c.293C>T, p.T98M - chr10_005663 risk factor PubMed: Peng 2016 - - Unknown ? 1/103 cases - - - LOVD
-/., -?/. 3 - c.294G>A r.(?) p.(Thr98=) - benign, likely benign g.123325034C>T g.121565520C>T FGFR2(NM_000141.4):c.294G>A (p.T98=) - FGFR2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.310C>T r.(?) p.(Leu104Phe) - likely benign g.123325018G>A g.121565504G>A FGFR2(NM_000141.4):c.310C>T (p.L104F) - FGFR2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.314A>G r.(?) p.(Tyr105Cys) - pathogenic g.123325014T>C g.121565500T>C FGFR2(NM_000141.4):c.314A>G (p.Y105C) - FGFR2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - c.334T>C r.(?) p.(Tyr112His) ACMG pathogenic g.123324994T>G - - - FGFR2_000145 - - - - Germline yes - - - - Malak Alghamdi
-/. 1 - c.377-29A>G r.(=) p.(=) - benign g.123324122T>C g.121564608T>C FGFR2(NM_000141.4):c.377-29A>G - FGFR2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.454+3A>G r.spl? p.? - likely benign g.123324013T>C - FGFR2(NM_022970.3):c.454+3A>G - FGFR2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.454+14C>T r.(=) p.(=) - benign g.123324002G>A g.121564488G>A FGFR2(NM_000141.4):c.454+14C>T - FGFR2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.455-6A>T r.(=) p.(=) - likely benign g.123310979T>A g.121551465T>A FGFR2(NM_000141.4):c.455-6A>T (p.(=)) - FGFR2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.540A>C r.(?) p.(Pro180=) - likely benign g.123310888T>G - FGFR2(NM_022970.3):c.540A>C (p.P180=) - FGFR2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.557T>C r.(?) p.(Met186Thr) - benign, likely benign g.123310871A>G g.121551357A>G FGFR2(NM_000141.4):c.557T>C (p.M186T), FGFR2(NM_022970.3):c.557T>C (p.M186T) - FGFR2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.621C>G r.(?) p.(Tyr207Ter) - VUS g.123310807G>C g.121551293G>C FGFR2(NM_022970.3):c.621C>G (p.Y207*) - FGFR2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 6 c.629G>A r.(?) p.(Arg210Gln) ACMG likely pathogenic (dominant) g.123298225C>T - - - FGFR2_000148 Variant not previously reported in public databases nor literature - - - Germline no - - - - Miriam Erandi Reyna-Fabián
-/. 2 - c.696A>G r.(?) p.(Val232=) - benign g.123298158T>C g.121538644T>C FGFR2(NM_022970.3):c.696A>G (p.V232=) - FGFR2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.749-112G>A r.(=) p.(=) - benign g.123279795C>T g.121520281C>T - - FGFR2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.749-27T>C r.(=) p.(=) - benign g.123279710A>G g.121520196A>G FGFR2(NM_000141.4):c.749-27T>C - FGFR2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 7 7 c.755C>G r.(?) p.(Ser252Trp), p.Ser252Trp ACMG pathogenic, pathogenic (dominant) g.123279677G>C g.121520163G>C FGFR2(NM_000141.4):c.755C>G (p.S252W, p.(Ser252Trp)) - FGFR2_000001 VKGL data sharing initiative Nederland, 1 more item PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - rs79184941 CLASSIFICATION record, De novo, Germline yes - - - - Karen E. Heath, Andreas Laner, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Isabel Filges, Malak Alghamdi
+/. 1 - c.755C>T r.(?) p.(Ser252Leu) - pathogenic g.123279677G>A g.121520163G>A FGFR2(NM_000141.4):c.755C>T (p.S252L) - FGFR2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.756G>A r.(?) p.(Ser252=) - likely benign g.123279676C>T - FGFR2(NM_022970.3):c.756G>A (p.S252=) - FGFR2_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 6 7 c.758C>G r.(?) p.(Pro253Arg) ACMG pathogenic g.123279674G>C g.121520160G>C FGFR2(NM_000141.4):c.758C>G (p.P253R, p.(Pro253Arg)) - FGFR2_000002 VKGL data sharing initiative Nederland PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - CLASSIFICATION record, De novo, Germline yes - - - - Karen E. Heath, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Malak Alghamdi
?/. 1 - c.758C>T r.(?) p.(Pro253Leu) - VUS g.123279674G>A g.121520160G>A FGFR2(NM_000141.4):c.758C>T (p.P253L) - FGFR2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.759T>G r.(?) p.(Pro253=) - benign g.123279673A>C g.121520159A>C FGFR2(NM_000141.4):c.759T>G (p.P253=) - FGFR2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.799T>C r.(?) p.(Ser267Pro) - pathogenic g.123279633A>G g.121520119A>G FGFR2(NM_000141.4):c.799T>C (p.S267P) - FGFR2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.803C>T r.(?) p.(Thr268Ile) - likely benign g.123279629G>A g.121520115G>A FGFR2(NM_000141.4):c.803C>T (p.T268I) - FGFR2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.812G>T r.(?) p.(Gly271Val) - pathogenic g.123279620C>A g.121520106C>A FGFR2(NM_000141.4):c.812G>T (p.G271V) - FGFR2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 4 7 c.826T>G r.(?) p.(Phe276Val) - likely pathogenic, pathogenic g.123279606A>C g.121520092A>C FGFR2(NM_000141.4):c.826T>G (p.F276V) - FGFR2_000003 VKGL data sharing initiative Nederland PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - CLASSIFICATION record, Unknown - - - - - Karen E. Heath, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - c.833G>A r.(?) p.(Cys278Tyr) - pathogenic g.123279599C>T - FGFR2(NM_022970.3):c.833G>A (p.C278Y) - FGFR2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., +?/. 5 7 c.833G>T r.(?) p.(Cys278Phe) - likely pathogenic, pathogenic g.123279599C>A g.121520085C>A FGFR2(NM_000141.4):c.833G>T (p.C278F) - FGFR2_000004 VKGL data sharing initiative Nederland PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - CLASSIFICATION record, Germline, Unknown yes - - - - Karen E. Heath, VKGL-NL_Rotterdam
+?/. 1 7 c.865_873del r.(?) p.(Gln289_Ile291del) - likely pathogenic g.123279559_1232795687del - - - FGFR2_000005 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - De novo - - - - - Karen E. Heath
+/. 1 - c.866A>C r.(?) p.(Gln289Pro) - pathogenic g.123279566T>G g.121520052T>G FGFR2(NM_000141.4):c.866A>C (p.Q289P) - FGFR2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.868T>C r.(?) p.(Trp290Arg) - pathogenic g.123279564A>G g.121520050A>G FGFR2(NM_000141.4):c.868T>C (p.W290R) - FGFR2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/., +?/. 2 7 c.868T>G r.(?) p.(Trp290Gly) - likely pathogenic, pathogenic g.123279564A>C g.121520050A>C 868C>T, FGFR2(NM_000141.4):c.868T>G (p.W290G) - FGFR2_000006 VKGL data sharing initiative Nederland PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - CLASSIFICATION record, Unknown - - - - - Karen E. Heath, VKGL-NL_Rotterdam
+/., +?/. 3 7 c.870G>C r.(?) p.(Trp290Cys) - likely pathogenic, pathogenic, pathogenic (dominant) g.123279562C>G g.121520048C>G FGFR2(NM_000141.4):c.870G>C (p.W290C), NM_000141.4:c.870G>C:p.(Trp290Cys) - FGFR2_000007 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
+/. 1 - c.870G>T r.(?) p.(Trp290Cys) - pathogenic g.123279562C>A g.121520048C>A - - FGFR2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 7 c.874A>G r.(?) p.(Lys292Glu) - likely pathogenic g.123279558T>C g.121520044T>C - - FGFR2_000008 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - - - Karen E. Heath
-/. 1 - c.883G>C r.(?) p.(Glu295Gln) - benign g.123279549C>G g.121520035C>G FGFR2(NM_000141.4):c.883G>C (p.E295Q) - FGFR2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.892G>A r.(?) p.(Gly298Ser) - VUS g.123279540C>T g.121520026C>T FGFR2(NM_000141.4):c.892G>A (p.(Gly298Ser)) - FGFR2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.911A>G r.(?) p.(Asp304Gly) - VUS g.123279521T>C g.121520007T>C FGFR2(NM_000141.4):c.911A>G (p.D304G) - FGFR2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.939+1154C>T r.(=) p.(=) - likely benign g.123278339G>A g.121518825G>A FGFR2(NM_022970.3):c.944C>T (p.S315L) - FGFR2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.939+1203C>T r.(=) p.(=) - likely benign g.123278290G>A - FGFR2(NM_022970.3):c.993C>T (p.T331=) - FGFR2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.939+1245T>C r.(=) p.(=) - likely benign g.123278248A>G g.121518734A>G FGFR2(NM_022970.3):c.1035T>C (p.Y345=) - FGFR2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.940-4C>G r.spl? p.? - likely benign g.123276981G>C g.121517467G>C FGFR2(NM_000141.4):c.940-4C>G - FGFR2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 7i c.940-2A>G r.spl? p.? - pathogenic g.123276979T>C g.121517465T>C FGFR2(NM_000141.4):c.940-2A>G - FGFR2_000009 VKGL data sharing initiative Nederland PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - CLASSIFICATION record, Unknown - - - - - Karen E. Heath, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 7i c.940-1G>A r.spl? p.? - pathogenic g.123276978C>T g.121517464C>T - - FGFR2_000010 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - - - Karen E. Heath
-?/. 1 - c.942C>T r.(?) p.(Ala314=) - likely benign g.123276975G>A - FGFR2(NM_000141.4):c.942C>T (p.A314=) - FGFR2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.943G>T r.(?) p.(Ala315Ser) - pathogenic g.123276974C>A g.121517460C>A FGFR2(NM_000141.4):c.943G>T (p.A315S) - FGFR2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/? 1 8 c.979C>G r.(?) p.(Leu327Val) - likely pathogenic g.123276938G>C g.121517424G>C - - FGFR2_000011 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Germline yes - - - - Karen E. Heath
-?/. 1 - c.1002T>C r.(?) p.(Phe334=) - likely benign g.123276915A>G g.121517401A>G FGFR2(NM_000141.4):c.1002T>C (p.F334=) - FGFR2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 8 c.1007A>G r.(?) p.(Asp336Gly) - likely pathogenic g.123276910T>C g.121517396T>C - - FGFR2_000026 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - - - Karen E. Heath
+?/. 1 8 c.1009G>C r.(?) p.(Ala337Pro) - likely pathogenic g.123276908C>G g.121517394C>G - - FGFR2_000022 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - - - Karen E. Heath
+/. 1 - c.1012G>C r.(?) p.(Gly338Arg) - pathogenic g.123276905C>G g.121517391C>G FGFR2(NM_000141.4):c.1012G>C (p.G338R) - FGFR2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1018T>A r.(?) p.(Tyr340Asn) - pathogenic g.123276899A>T g.121517385A>T FGFR2(NM_000141.4):c.1018T>A (p.Y340N) - FGFR2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.1018T>C r.(?) p.(Tyr340His) - pathogenic g.123276899A>G g.121517385A>G FGFR2(NM_000141.4):c.1018T>C (p.Y340H) - FGFR2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - c.1019A>C r.(?) p.(Tyr340Ser) - pathogenic g.123276898T>G g.121517384T>G FGFR2(NM_000141.4):c.1019A>C (p.Y340S) - FGFR2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 5 8 c.1019A>G r.(?) p.(Tyr340Cys) - likely pathogenic, pathogenic g.123276898T>C g.121517384T>C FGFR2(NM_000141.4):c.1019A>G (p.Y340C) - FGFR2_000016 VKGL data sharing initiative Nederland PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - CLASSIFICATION record, Unknown - - - - - Karen E. Heath, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/. 1 8 c.1021A>C r.(?) p.(Thr341Pro) - likely pathogenic g.123276896T>G g.121517382T>G - - FGFR2_000015 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - - - Karen E. Heath
+?/. 1 8 c.1024T>A r.(?) p.(Cys342Ser) - likely pathogenic g.123276893A>T g.121517379A>T - - FGFR2_000018 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - - - Karen E. Heath
+/., +?/. 4 8 c.1024T>C r.(?) p.(Cys342Arg) - likely pathogenic, pathogenic g.123276893A>G g.121517379A>G FGFR2(NM_000141.4):c.1024T>C (p.C342R) - FGFR2_000017 VKGL data sharing initiative Nederland PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - CLASSIFICATION record, Unknown - - - - - Karen E. Heath, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/. 2 8 c.1024T>G r.(?) p.(Cys342Gly) - likely pathogenic g.123276893A>C g.121517379A>C - - FGFR2_000014 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - - - Karen E. Heath
+/., +?/. 14 8 c.1025G>A r.(?) p.(Cys342Tyr) ACMG likely pathogenic, pathogenic, pathogenic (dominant) g.123276892C>T g.121517378C>T FGFR2(NM_000141.4):c.1025G>A (p.C342Y) - FGFR2_000012 ACMG: Class 5 (PS1, PS3, PS4, PM1, PM2_SUP, PP1), VKGL data sharing initiative Nederland PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015, 1 more item ClinVar-0000132630 - CLASSIFICATION record, Germline, Unknown yes - - - - Karen E. Heath, Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 2 - c.1025G>C r.(?) p.(Cys342Ser) - pathogenic g.123276892C>G g.121517378C>G FGFR2(NM_000141.4):c.1025G>C (p.C342S) - FGFR2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - c.1025G>T r.(?) p.(Cys342Phe) - pathogenic g.123276892C>A g.121517378C>A FGFR2(NM_000141.4):c.1025G>T (p.C342F) - FGFR2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 3 8 c.1026C>G r.(?) p.(Cys342Trp) - likely pathogenic, pathogenic g.123276891G>C g.121517377G>C FGFR2(NM_000141.4):c.1026C>G (p.C342W) - FGFR2_000023 VKGL data sharing initiative Nederland PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - CLASSIFICATION record, Unknown - - - - - Karen E. Heath, VKGL-NL_Rotterdam
-?/. 1 - c.1029G>A r.(?) p.(Leu343=) - likely benign g.123276888C>T g.121517374C>T FGFR2(NM_000141.4):c.1029G>A (p.L343=) - FGFR2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 8 c.1032G>A r.(?), r.spl? p.(Ala344=) - pathogenic g.123276885C>T g.121517371C>T FGFR2(NM_000141.4):c.1032G>A (p.A344=) - FGFR2_000027 shown experimentally to affect splicing (Li 1995: Nat.Genet. PMID 7773284), 1 more item PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - CLASSIFICATION record, Unknown - - - - - Karen E. Heath, VKGL-NL_Rotterdam, VKGL-NL_VUmc
+?/. 1 8 c.1040C>G r.(?) p.(Ser347Cys) - likely pathogenic g.123276877G>C g.121517363G>C - - FGFR2_000021 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - - - Karen E. Heath
+/., +?/. 4 8 c.1052C>G r.(?) p.(Ser351Cys) - likely pathogenic, pathogenic g.123276865G>C g.121517351G>C FGFR2(NM_000141.4):c.1052C>G (p.S351C) - FGFR2_000020 VKGL data sharing initiative Nederland PubMed: Lefebvre 2021, PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - CLASSIFICATION record, Germline/De novo (untested), Unknown - - - - - Johan den Dunnen, Karen E. Heath, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/., +?/. 2 8 c.1061C>G r.(?) p.(Ser354Cys) - likely pathogenic, pathogenic g.123276856G>C g.121517342G>C FGFR2(NM_000141.4):c.1061C>G (p.S354C) - FGFR2_000019 VKGL data sharing initiative Nederland PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - CLASSIFICATION record, Unknown - - - - - Karen E. Heath, VKGL-NL_Rotterdam
?/. 1 - c.1069T>G r.(?) p.(Leu357Val) - VUS g.123276848A>C g.121517334A>C FGFR2(NM_000141.4):c.1069T>G (p.L357V) - FGFR2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/? 2 8 c.1070T>C r.(?) p.(Leu357Ser) ACMG likely pathogenic, pathogenic g.123276847A>G g.121517333A>G - - FGFR2_000025 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Germline yes - - - - Karen E. Heath, Malak Alghamdi
+/. 1 - c.1083A>T r.(?) p.(Pro361=) - pathogenic g.123276834T>A g.121517320T>A FGFR2(NM_000141.4):c.1083A>T (p.P361=) - FGFR2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1084G>A r.(?) p.(Ala362Thr) - pathogenic g.123276833C>T g.121517319C>T FGFR2(NM_000141.4):c.1084G>A (p.A362T) - FGFR2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 1 8i c.1084+2T>C r.spl? p.? - likely pathogenic g.123276831A>G g.121517317A>G - - FGFR2_000024 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Germline yes - - - - Karen E. Heath
+/. 1 - c.1084+2_1084+4delinsG r.spl? p.? - pathogenic g.123276829_123276831delinsC g.121517315_121517317delinsC FGFR2(NM_000141.4):c.1084+2_1084+4delTATinsG - FGFR2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1084+3A>G r.spl? p.? - pathogenic g.123276830T>C g.121517316T>C FGFR2(NM_000141.4):c.1084+3A>G - FGFR2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.1084+8C>T r.(=) p.(=) - benign, likely benign g.123276825G>A g.121517311G>A FGFR2(NM_000141.4):c.1084+8C>T (, p.(=)) - FGFR2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.1085-3T>C r.spl? p.? - likely benign g.123274836A>G g.121515322A>G FGFR2(NM_000141.4):c.1085-3T>C - FGFR2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1103A>T r.(?) p.(Glu368Val) - VUS g.123274815T>A g.121515301T>A FGFR2(NM_000141.4):c.1103A>T (p.E368V) - FGFR2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 3 9 c.1124A>G r.(?) p.(Tyr375Cys) - likely pathogenic, pathogenic g.123274794T>C g.121515280T>C - - FGFR2_000013 VKGL data sharing initiative Nederland PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - CLASSIFICATION record, De novo - - - - - Karen E. Heath, VKGL-NL_Nijmegen
+/. 1 - c.1141T>G r.(?) p.(Tyr381Asp) ACMG pathogenic (dominant) g.123274777A>C g.121515263A>C - - FGFR2_000116 likely de novo PubMed: Helbig 2016 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. 1 - c.1144T>C r.(?) p.(Cys382Arg) - likely pathogenic g.123274774A>G - - - FGFR2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1274G>A r.(?) p.(Arg425Gln) - benign g.123274644C>T g.121515130C>T FGFR2(NM_000141.4):c.1274G>A (p.R425Q) - FGFR2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1288-31T>G r.(=) p.(=) - likely benign g.123263486A>C g.121503972A>C - - FGFR2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1288-23G>C r.(=) p.(=) - likely benign g.123263478C>G g.121503964C>G - - FGFR2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.1348C>T r.(?) p.(Arg450Cys) - likely benign, VUS g.123263395G>A g.121503881G>A FGFR2(NM_000141.4):c.1348C>T (p.R450C) - FGFR2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.1361C>T r.(?) p.(Thr454Met) - likely benign g.123263382G>A - FGFR2(NM_000141.4):c.1361C>T (p.(Thr454Met)) - FGFR2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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