Full data view for gene FGFR2

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

228 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-12023610_*88560dup - - Unknown - pathogenic g.123150811_135380935dup - - - ACADSB_000015 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
-?/. - c.-74G>A r.(?) p.(=) Unknown - likely benign g.123353405C>T g.121593891C>T - - FGFR2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.17G>C r.(?) p.(Arg6Pro) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.23T>G r.(?) p.(Ile8Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.43A>G r.(?) p.(Met15Val) Unknown - likely benign g.123353289T>C - FGFR2(NM_000141.4):c.43A>G (p.(Met15Val)) - FGFR2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.101A>T r.(?) p.(Glu34Val) Unknown - VUS g.123353231T>A - FGFR2(NM_022970.3):c.101A>T (p.E34V) - FGFR2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.101A>T r.(?) p.(Glu34Val) Unknown - VUS g.123353231T>A - FGFR2(NM_022970.3):c.101A>T (p.E34V) - FGFR2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.109+10T>G r.(=) p.(=) Unknown - benign g.123353213A>C g.121593699A>C FGFR2(NM_022970.3):c.109+10T>G - FGFR2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109+10T>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.110-26G>A r.(=) p.(=) Unknown - benign g.123325244C>T g.121565730C>T FGFR2(NM_000141.4):c.110-26G>A - FGFR2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.110-16_110-15del r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.144A>C r.(?) p.(Glu48Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159G>A r.(?) p.(Ala53=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.170C>T r.(?) p.(Ser57Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.170C>T r.(?) p.(Ser57Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.170C>T r.(?) p.(Ser57Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.181C>T r.(?) p.(Arg61Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.199G>A r.(?) p.(Ala67Thr) Unknown - VUS g.123325129C>T - FGFR2(NM_000141.4):c.199G>A (p.A67T) - FGFR2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293C>T r.(?) p.(Thr98Met) Unknown - association g.123325035G>A g.121565521G>A FGFR2 c.293C>T, p.T98M - chr10_005663 risk factor PubMed: Peng 2016 - - Unknown ? 1/103 cases - 0 - DNA SEQ-NG, SEQ - next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study OFC ? PubMed: Peng 2016 - - - Taiwan Taiwanese - 0 - - 1 LOVD
-/. - c.294G>A r.(?) p.(Thr98=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.294G>A r.(?) p.(Thr98=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.294G>A r.(?) p.(Thr98=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.310C>T r.(?) p.(Leu104Phe) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.314A>G r.(?) p.(Tyr105Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.314A>G r.(?) p.(Tyr105Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.334T>C r.(?) p.(Tyr112His) Paternal (confirmed) ACMG pathogenic g.123324994T>G - - - FGFR2_000145 - - - - Germline yes - - - - DNA SEQ - - Pfeiffer - - - F yes Saudi Arabia - - - - - 1 Malak Alghamdi
-/. - c.377-29A>G r.(=) p.(=) Unknown - benign g.123324122T>C g.121564608T>C FGFR2(NM_000141.4):c.377-29A>G - FGFR2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.454+3A>G r.spl? p.? Unknown - likely benign g.123324013T>C - FGFR2(NM_022970.3):c.454+3A>G - FGFR2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.454+14C>T r.(=) p.(=) Unknown - benign g.123324002G>A g.121564488G>A FGFR2(NM_000141.4):c.454+14C>T - FGFR2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.455-6A>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540A>C r.(?) p.(Pro180=) Unknown - likely benign g.123310888T>G - FGFR2(NM_022970.3):c.540A>C (p.P180=) - FGFR2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.557T>C r.(?) p.(Met186Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.557T>C r.(?) p.(Met186Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.557T>C r.(?) p.(Met186Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.621C>G r.(?) p.(Tyr207Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.629G>A r.(?) p.(Arg210Gln) Paternal (confirmed) ACMG likely pathogenic (dominant) g.123298225C>T - - - FGFR2_000148 Variant not previously reported in public databases nor literature - - - Germline no - - 0 - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing LADD APEC-Patient 4 unpublished Familial case, father (unaffected heterozygous carrier) M no Mexico - - 0 - none 1 Miriam Erandi Reyna-Fabián
-/. - c.696A>G r.(?) p.(Val232=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.696A>G r.(?) p.(Val232=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.749-112G>A r.(=) p.(=) Unknown - benign g.123279795C>T g.121520281C>T - - FGFR2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.749-27T>C r.(=) p.(=) Unknown - benign g.123279710A>G g.121520196A>G FGFR2(NM_000141.4):c.749-27T>C - FGFR2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.755C>G r.(?) p.(Ser252Trp) Unknown - pathogenic g.123279677G>C g.121520163G>C - - FGFR2_000001 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - De novo - - - 0 - DNA SEQ - - Apert - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no - - - 0 - - 1 Karen E. Heath
+/. - c.755C>G r.(?) p.(Ser252Trp) Unknown - pathogenic g.123279677G>C g.121520163G>C FGFR2(NM_000141.4):c.755C>G (p.S252W, p.(Ser252Trp)) - FGFR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.755C>G r.(?) p.(Ser252Trp) Unknown - pathogenic (dominant) g.123279677G>C g.121520163G>C - - FGFR2_000001 - - - rs79184941 De novo - - - 0 - DNA SEQ-NG - - Apert - - - M ? Sri Lanka - - 0 - - 1 Isabel Filges
+/. - c.755C>G r.(?) p.(Ser252Trp) Unknown - pathogenic g.123279677G>C g.121520163G>C FGFR2(NM_000141.4):c.755C>G (p.S252W, p.(Ser252Trp)) - FGFR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.755C>G r.(?) p.Ser252Trp Unknown ACMG pathogenic g.123279677G>C g.121520163G>C - - FGFR2_000001 ACMG grading: PM2,PS2,PP1,PS3; reported in Wilkie 1995. Nat Genet 9: 165; Anderson 1998. Hum Mol Genet 7: 1475; Slaney 1996. Am J Hum Genet 58: 923 - - rs79184941 Germline - - - 0 - DNA SEQ-NG-S - - - - - - M - - - - 0 - - 1 Andreas Laner
+/. - c.755C>G r.(?) p.(Ser252Trp) Unknown - pathogenic g.123279677G>C g.121520163G>C FGFR2(NM_000141.4):c.755C>G (p.S252W, p.(Ser252Trp)) - FGFR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.755C>G r.(?) p.(Ser252Trp) Unknown ACMG pathogenic g.123279677G>C - - - FGFR2_000001 - - - - De novo yes - - - - RNA SEQ - - Apert - - - F yes Saudi Arabia - - - - - 1 Malak Alghamdi
+/. - c.755C>T r.(?) p.(Ser252Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.756G>A r.(?) p.(Ser252=) Unknown - likely benign g.123279676C>T - FGFR2(NM_022970.3):c.756G>A (p.S252=) - FGFR2_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.758C>G r.(?) p.(Pro253Arg) Unknown - pathogenic g.123279674G>C g.121520160G>C - - FGFR2_000002 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - De novo - - - 0 - DNA SEQ - - Apert - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - 1 Karen E. Heath
+/. - c.758C>G r.(?) p.(Pro253Arg) Unknown - 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 - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.758C>G r.(?) p.(Pro253Arg) Unknown - 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.758C>G r.(?) p.(Pro253Arg) Unknown ACMG pathogenic g.123279674G>C - - - FGFR2_000002 - - - - De novo yes - - - - RNA SEQ - - Apert - - - M no Saudi Arabia - - - - - 1 Malak Alghamdi
+/. - c.758C>G r.(?) p.(Pro253Arg) Unknown ACMG pathogenic g.123279674G>C - - - FGFR2_000002 - - - - Germline yes - - - - RNA SEQ - - Apert - - - M no Saudi Arabia - - - - - 1 Malak Alghamdi
+/. - c.758C>G r.(?) p.(Pro253Arg) Unknown - pathogenic g.123279674G>C - FGFR2(NM_000141.4):c.758C>G (p.P253R, p.(Pro253Arg)) - FGFR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.758C>T r.(?) p.(Pro253Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.759T>G r.(?) p.(Pro253=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.799T>C r.(?) p.(Ser267Pro) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.803C>T r.(?) p.(Thr268Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.812G>T r.(?) p.(Gly271Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 7 c.826T>G r.(?) p.(Phe276Val) Unknown - likely pathogenic g.123279606A>C g.121520092A>C - - FGFR2_000003 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - DNA SEQ - - Pfeiffer - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - 1 Karen E. Heath
+?/. 7 c.826T>G r.(?) p.(Phe276Val) Unknown - likely pathogenic g.123279606A>C g.121520092A>C - - FGFR2_000003 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - DNA SEQ - - Pfeiffer - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - 1 Karen E. Heath
+/. - c.826T>G r.(?) p.(Phe276Val) Unknown - pathogenic g.123279606A>C g.121520092A>C FGFR2(NM_000141.4):c.826T>G (p.F276V) - FGFR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.826T>G r.(?) p.(Phe276Val) Unknown - pathogenic g.123279606A>C g.121520092A>C FGFR2(NM_000141.4):c.826T>G (p.F276V) - FGFR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.833G>A r.(?) p.(Cys278Tyr) Unknown - pathogenic g.123279599C>T - FGFR2(NM_022970.3):c.833G>A (p.C278Y) - FGFR2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.833G>T r.(?) p.(Cys278Phe) Unknown - likely pathogenic g.123279599C>A g.121520085C>A - - FGFR2_000004 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - DNA SEQ - - Crouzon - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - 1 Karen E. Heath
+?/. - c.833G>T r.(?) p.(Cys278Phe) Unknown - likely pathogenic g.123279599C>A g.121520085C>A - - FGFR2_000004 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - DNA SEQ - - Crouzon - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F - Spain - - 0 - - 1 Karen E. Heath
+?/. - c.833G>T r.(?) p.(Cys278Phe) Unknown - likely pathogenic g.123279599C>A g.121520085C>A - - FGFR2_000004 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - DNA SEQ - - Crouzon - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M - Spain - - 0 - - 1 Karen E. Heath
+?/. - c.833G>T r.(?) p.(Cys278Phe) Unknown - likely pathogenic g.123279599C>A g.121520085C>A - - FGFR2_000004 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Germline yes - - 0 - DNA SEQ - - Pfeiffer - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - 1 Karen E. Heath
+/. - c.833G>T r.(?) p.(Cys278Phe) Unknown - pathogenic g.123279599C>A g.121520085C>A FGFR2(NM_000141.4):c.833G>T (p.C278F) - FGFR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 7 c.865_873del r.(?) p.(Gln289_Ile291del) Unknown - likely pathogenic g.123279559_1232795687del - - - FGFR2_000005 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - De novo - - - 0 - DNA SEQ - - Pfeiffer - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F - Spain - - 0 - - 1 Karen E. Heath
+/. - c.866A>C r.(?) p.(Gln289Pro) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.868T>C r.(?) p.(Trp290Arg) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.868T>C r.(?) p.(Trp290Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.868T>G r.(?) p.(Trp290Gly) Unknown - likely pathogenic g.123279564A>C g.121520050A>C 868C>T - FGFR2_000006 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - DNA SEQ - - Crouzon - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - ? no Spain - - 0 - - 1 Karen E. Heath
+/. - c.868T>G r.(?) p.(Trp290Gly) Unknown - pathogenic g.123279564A>C g.121520050A>C FGFR2(NM_000141.4):c.868T>G (p.W290G) - FGFR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 7 c.870G>C r.(?) p.(Trp290Cys) Unknown - likely pathogenic g.123279562C>G g.121520048C>G - - FGFR2_000007 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - DNA SEQ - - Pfeiffer - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - ? no Spain - - 0 - - 1 Karen E. Heath
+/. - c.870G>C r.(?) p.(Trp290Cys) Unknown - pathogenic g.123279562C>G g.121520048C>G FGFR2(NM_000141.4):c.870G>C (p.W290C) - FGFR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.870G>C r.(?) p.(Trp290Cys) Unknown - pathogenic (dominant) g.123279562C>G g.121520048C>G NM_000141.4:c.870G>C:p.(Trp290Cys) - FGFR2_000007 - PubMed: Maddirevula 2018 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia DG08RC00033 PubMed: Maddirevula 2018 isolated case M no - Arab - 0 - - 1 LOVD
+/. - c.870G>T r.(?) p.(Trp290Cys) Unknown - pathogenic g.123279562C>A g.121520048C>A - - FGFR2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.874A>G r.(?) p.(Lys292Glu) Unknown - likely pathogenic g.123279558T>C g.121520044T>C - - FGFR2_000008 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - DNA SEQ - - Crouzon - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - 1 Karen E. Heath
-/. - c.883G>C r.(?) p.(Glu295Gln) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.892G>A r.(?) p.(Gly298Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.911A>G r.(?) p.(Asp304Gly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.939+1154C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.939+1203C>T r.(=) p.(=) Unknown - likely benign g.123278290G>A - FGFR2(NM_022970.3):c.993C>T (p.T331=) - FGFR2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.939+1245T>C r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.940-4C>G r.spl? p.? Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7i c.940-2A>G r.spl? p.? Unknown - pathogenic g.123276979T>C g.121517465T>C - - FGFR2_000009 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - DNA SEQ - - Pfeiffer - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - 1 Karen E. Heath
+/. - c.940-2A>G r.spl? p.? Unknown - pathogenic g.123276979T>C g.121517465T>C FGFR2(NM_000141.4):c.940-2A>G - FGFR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.940-2A>G r.spl? p.? Unknown - pathogenic g.123276979T>C - FGFR2(NM_000141.4):c.940-2A>G - FGFR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7i c.940-1G>A r.spl? p.? Unknown - pathogenic g.123276978C>T g.121517464C>T - - FGFR2_000010 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - DNA SEQ - - Pfeiffer - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - 1 Karen E. Heath
-?/. - c.942C>T r.(?) p.(Ala314=) Unknown - likely benign g.123276975G>A - FGFR2(NM_000141.4):c.942C>T (p.A314=) - FGFR2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.943G>T r.(?) p.(Ala315Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.943G>T r.(?) p.(Ala315Ser) Unknown - pathogenic g.123276974C>A - FGFR2(NM_000141.4):c.943G>T (p.A315S) - FGFR2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 8 c.979C>G r.(?) p.(Leu327Val) Unknown - likely pathogenic g.123276938G>C g.121517424G>C - - FGFR2_000011 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Germline yes - - 0 - DNA SEQ - - Pfeiffer - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F - Spain - - 0 - - 1 Karen E. Heath
-?/. - c.1002T>C r.(?) p.(Phe334=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1007A>G r.(?) p.(Asp336Gly) Unknown - likely pathogenic g.123276910T>C g.121517396T>C - - FGFR2_000026 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - DNA SEQ - - MNKES - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - 1 Karen E. Heath
+?/. 8 c.1009G>C r.(?) p.(Ala337Pro) Unknown - likely pathogenic g.123276908C>G g.121517394C>G - - FGFR2_000022 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - DNA SEQ - - Crouzon - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - 1 Karen E. Heath
+/. - c.1012G>C r.(?) p.(Gly338Arg) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »