ClinVar Miner

List of variants in gene FGFR2 reported as pathogenic by Invitae

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) rs121918492 0.00001
NM_000141.5(FGFR2):c.1075G>A (p.Val359Ile) rs1274989878 0.00001
NC_000010.10:g.(?_123276813)_(123276997_?)del
NM_000141.5(FGFR2):c.1009G>C (p.Ala337Pro) rs387906676
NM_000141.5(FGFR2):c.1012G>A (p.Gly338Arg) rs1057519043
NM_000141.5(FGFR2):c.1012G>C (p.Gly338Arg) rs1057519043
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His) rs121918489
NM_000141.5(FGFR2):c.1019A>G (p.Tyr340Cys) rs1554928884
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro) rs121918495
NM_000141.5(FGFR2):c.1023_1024delinsAG (p.Cys342Gly)
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) rs121918488
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly) rs121918488
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) rs121918487
NM_000141.5(FGFR2):c.1025G>T (p.Cys342Phe) rs121918487
NM_000141.5(FGFR2):c.1026C>G (p.Cys342Trp) rs121918496
NM_000141.5(FGFR2):c.1030G>C (p.Ala344Pro) rs2134256250
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys) rs121918490
NM_000141.5(FGFR2):c.1061C>T (p.Ser354Phe) rs121918490
NM_000141.5(FGFR2):c.1070T>C (p.Leu357Ser) rs2134254345
NM_000141.5(FGFR2):c.1083A>T (p.Pro361=)
NM_000141.5(FGFR2):c.1084+1G>A
NM_000141.5(FGFR2):c.1084+2T>C
NM_000141.5(FGFR2):c.1084+3A>G rs879253721
NM_000141.5(FGFR2):c.1084G>T (p.Ala362Ser)
NM_000141.5(FGFR2):c.1115C>G (p.Ser372Cys) rs121913477
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr) rs121918508
NM_000141.5(FGFR2):c.1977G>C (p.Lys659Asn) rs1589722765
NM_000141.5(FGFR2):c.1977G>T (p.Lys659Asn) rs1589722765
NM_000141.5(FGFR2):c.1988G>A (p.Gly663Glu)
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_000141.5(FGFR2):c.826T>G (p.Phe276Val) rs1057519036
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_000141.5(FGFR2):c.833_834delinsTT (p.Cys278Phe) rs1057519037
NM_000141.5(FGFR2):c.834C>G (p.Cys278Trp) rs1554930790
NM_000141.5(FGFR2):c.863T>A (p.Ile288Asn) rs1850289942
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_000141.5(FGFR2):c.868T>A (p.Trp290Arg)
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg) rs121918501
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.940-1G>A rs879253719
NM_000141.5(FGFR2):c.940-1G>T rs879253719
NM_000141.5(FGFR2):c.940-2A>C rs1057519041
NM_000141.5(FGFR2):c.940-2A>G rs1057519041
NM_000141.5(FGFR2):c.940G>T (p.Ala314Ser) rs1358919643
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
NM_000141.5(FGFR2):c.958A>G (p.Thr320Ala) rs2134260022
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala) rs121918510
NM_000141.5(FGFR2):c.962A>T (p.Asp321Val) rs121918510
NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys) rs121918493

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