Full data view for gene FGFR1

Information The variants shown are described using the NM_023110.2 transcript reference sequence.

395 entries on 4 pages. Showing entries 1 - 100.
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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.-699C>T r.(?) p.(=) Unknown - benign g.38326109G>A g.38468591G>A - - FGFR1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-636C>T r.(?) p.(=) Unknown - benign g.38326046G>A g.38468528G>A - - FGFR1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-385G>A r.(?) p.(=) Unknown - benign g.38325795C>T g.38468277C>T - - FGFR1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-358C>T r.(?) p.(=) Unknown - likely benign g.38325768G>A g.38468250G>A - - FGFR1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-89+173C>T r.(=) p.(=) Unknown - benign g.38325326G>A g.38467808G>A - - FGFR1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-88-3729T>G r.(=) p.(=) Unknown - VUS g.38318781A>C - FGFR1(NM_001174067.1):c.-149-8T>G (p.?) - FGFR1_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-88-3566dup r.(=) p.(=) Unknown - VUS g.38318619dup - FGFR1(NM_001174067.1):c.7dupG (p.A3Gfs*27) - FGFR1_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-33G>A r.(?) p.(=) Unknown - likely benign g.38314997C>T - FGFR1(NM_023110.2):c.-33G>A (p.(=)) - FGFR1_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2G>T r.(?) p.(?) Unknown - VUS g.38314966C>A - - - FGFR1_000298 - - - rs2151348395 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.-1G>A r.(=) p.(=) Parent #1 - likely pathogenic g.38314965C>T g.38457447C>T - - FGFR1_000247 - MORL Deafness Variation Database, PubMed: Marcos 2014 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Marcos 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. _1_1i c.-3614_-89+1_-88-1)del r.0? p.0? Maternal (confirmed) - pathogenic g.(?_38320713)_(38329024_?)del - - - FGFR1_000009 deleted region contains critical promoter elements for FGFR1 expression - - - Germline yes - - - - DNA arrayCGH Blood - HH2;KAL2 - - - M ? Japan Japanese - - - - 1 Kohnosuke Ohtaka
?/. - c.? r.(?) p.(Arg91Trp) Unknown - VUS g.? - - - RP1_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K162 PubMed: Heidet 2017 affected patient, 1st degree relative and uncle/aunt/cousin - - France - - - - - 3 Johan den Dunnen
+/+ 2 c.11G>A r.(?) p.(Trp4*) Parent #1 - pathogenic g.38314954C>T g.38457436C>T - - FGFR1_000246 - MORL Deafness Variation Database, PubMed: Laitinen 2011, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Laitinen 2011, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.12G>A r.(?) p.(Trp4*) Parent #1 - pathogenic g.38314953C>T g.38457435C>T - - FGFR1_000245 - MORL Deafness Variation Database, PubMed: Dodé 2009 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Dodé 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.17G>A r.(?) p.(Cys6Tyr) Unknown - VUS g.38314948C>T - - - FGFR1_000305 - - - rs2151346848 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.27del r.(?) p.(Trp10Glyfs*93) Parent #1 - pathogenic g.38314938del g.38457420del - - FGFR1_000244 - MORL Deafness Variation Database, PubMed: Qin 2014 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Qin 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.47C>G r.(?) p.(Ala16Gly) Parent #1 - likely pathogenic g.38314918G>C g.38457400G>C - - FGFR1_000243 - MORL Deafness Variation Database, PubMed: Dodé 2009 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Dodé 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.47C>T r.(?) p.(Ala16Val) Unknown - likely benign g.38314918G>A - FGFR1(NM_023110.3):c.47C>T (p.(Ala16Val)) - FGFR1_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66G>C r.(?) p.(Arg22Ser) Unknown - likely benign g.38314899C>G g.38457381C>G FGFR1(NM_023110.2):c.66G>C (p.(Arg22Ser)), FGFR1(NM_023110.3):c.66G>C (p.R22S) - FGFR1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66G>C r.(?) p.(Arg22Ser) Unknown - likely benign g.38314899C>G - FGFR1(NM_023110.2):c.66G>C (p.(Arg22Ser)), FGFR1(NM_023110.3):c.66G>C (p.R22S) - FGFR1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75G>A r.(?) p.(Pro25=) Unknown - likely benign g.38314890C>T g.38457372C>T FGFR1(NM_023110.2):c.75G>A (p.P25=), FGFR1(NM_023110.3):c.75G>A (p.P25=) - FGFR1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75G>A r.(?) p.(Pro25=) Unknown - benign g.38314890C>T - FGFR1(NM_023110.2):c.75G>A (p.P25=), FGFR1(NM_023110.3):c.75G>A (p.P25=) - FGFR1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.91+1G>A r.spl? p.? Unknown - pathogenic g.38314873C>T g.38457355C>T - - FGFR1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2i c.91+2T>A r.spl? p.? Parent #1 - pathogenic g.38314872A>T g.38457354A>T - - FGFR1_000242 - MORL Deafness Variation Database, PubMed: Laitinen 2012 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Laitinen 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.92-10361G>A r.(=) p.(=) Unknown - likely benign g.38297827C>T - FGFR1(NM_001174064.1):c.64G>A (p.(Glu22Lys)) - FGFR1_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.92-10346G>A r.(=) p.(=) Unknown - benign g.38297812C>T - FGFR1(NM_023110.3):c.92-10346G>A - FGFR1_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.94C>G r.(?) p.(Gln32Glu) Unknown - VUS g.38287464G>C - FGFR1(NM_023110.3):c.94C>G (p.(Gln32Glu)) - FGFR1_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.103G>A r.(?) p.(Gly35Arg) Maternal (confirmed) - likely pathogenic (dominant) g.38287455C>T g.38429937C>T - - FGFR1_000285 - PubMed: Yao 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam1 PubMed: Yao 2023 2-generation family, affected mother/son F;M - China - - - - - 2 Johan den Dunnen
+/+ 3 c.142G>A r.(?) p.(Gly48Ser) Parent #1 - pathogenic g.38287416C>T g.38429898C>T - - FGFR1_000241 - MORL Deafness Variation Database, PubMed: Laitinen 2011, PubMed: Balasubramanian 1993, PubMed: Trarbach 2006, PubMed: Rajith 2013, PubMed: Hero 2015 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Laitinen 2011, PubMed: Balasubramanian 1993, PubMed: Trarbach 2006, PubMed: Rajith 2013, PubMed: Hero 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.160C>T r.(?) p.(Arg54Cys) Unknown - VUS g.38287398G>A - FGFR1(NM_023110.3):c.160C>T (p.(Arg54Cys)) - FGFR1_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.165_171del r.(?) p.(Arg56Glyfs*45) Parent #1 - pathogenic g.38287391_38287397del g.38429873_38429879del - - FGFR1_000240 - MORL Deafness Variation Database, PubMed: Shaw 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Shaw 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.173G>A r.(?) p.(Arg58Gln) Unknown - VUS g.38287385C>T - FGFR1(NM_023110.3):c.173G>A (p.R58Q) - FGFR1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.177C>T r.(?) p.(Asp59=) Unknown - benign g.38287381G>A - FGFR1(NM_023110.3):c.177C>T (p.D59=) - FGFR1_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.203_217dup r.(?) p.(Arg68_Gln72dup) Parent #1 - likely pathogenic g.38287343_38287357dup g.38429825_38429839dup - - FGFR1_000238 - MORL Deafness Variation Database, PubMed: Shaw 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Shaw 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.208G>A r.(208g>a) p.(Gly70Arg) Unknown - pathogenic (dominant) g.38287350C>T g.38429832C>T - - FGFR1_000256 - - - - Germline - - - - - RNA - - - - - - - - - - - - - - - - -
+/+ 3 c.208G>C r.(?) p.(Gly70Arg) Parent #1 - pathogenic g.38287350C>G g.38429832C>G - - FGFR1_000239 - MORL Deafness Variation Database, PubMed: Marcos 2014 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Marcos 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.211G>A r.(211g>a) p.(Val71Met) Unknown - pathogenic (dominant) g.38287347C>T g.38429829C>T - - FGFR1_000257 - - - - Germline - - - - - RNA - - - - - - - - - - - - - - - - -
?/. - c.212T>G r.(?) p.(Val71Gly) Unknown - VUS g.38287346A>C - - - FGFR1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.231C>G r.(?) p.(Asn77Lys) Parent #1 - likely pathogenic g.38287327G>C g.38429809G>C - - FGFR1_000237 - MORL Deafness Variation Database, PubMed: Dodé 2009, PubMed: Rajith 2013 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Dodé 2009, PubMed: Rajith 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.232C>T r.(?) p.(Arg78Cys) Unknown - pathogenic g.38287326G>A g.38429808G>A - - FGFR1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.232C>T r.(?) p.(Arg78Cys) Parent #1 - pathogenic g.38287326G>A g.38429808G>A - - FGFR1_000051 - MORL Deafness Variation Database, PubMed: Pitteloud 2006, PubMed: Rajith 2013, PubMed: Miraoui 2013 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Pitteloud 2006, PubMed: Rajith 2013, PubMed: Miraoui 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.246_247del r.(?) p.(Glu84Glyfs*26) Parent #1 - pathogenic g.38287311_38287312del g.38429793_38429794del - - FGFR1_000236 - MORL Deafness Variation Database, PubMed: Shaw 2011, PubMed: Entrala-Bernal 2014, PubMed: Marcos 2014 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Shaw 2011, PubMed: Entrala-Bernal 2014, PubMed: Marcos 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.286T>C r.(?) p.(Ser96Pro) Parent #1 - pathogenic g.38287272A>G g.38429754A>G - - FGFR1_000235 - MORL Deafness Variation Database, PubMed: Vizeneux 2013 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Vizeneux 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.287C>G r.(?) p.(Ser96Cys) Unknown - likely pathogenic g.38287271G>C - - - FGFR1_000304 - - - rs2150958177 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.289G>A r.(?) p.(Gly97Ser) Unknown - pathogenic g.38287269C>T g.38429751C>T - - FGFR1_000006 - - - - Germline/De novo (untested) - - - - - DNA PCR Peripheral Blood Leukocyte - HH2;KAL2 - - - M - Japan - - - - - 1 Kohnosuke Ohtaka
+/. - c.289G>A r.(?) p.(Gly97Ser) Unknown - pathogenic g.38287269C>T g.38429751C>T - - FGFR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.289G>A r.(?) p.(Gly97Ser) Parent #1 - likely pathogenic g.38287269C>T g.38429751C>T - - FGFR1_000006 - MORL Deafness Variation Database, PubMed: Dodé 2009 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Dodé 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.289G>C r.(289g>c) p.(Gly97Arg) Unknown - pathogenic (dominant) g.38287269C>G g.38429751C>G - - FGFR1_000258 - - - - Germline - - - - - RNA - - - - - - - - - - - - - - - - -
+/+ 3 c.290G>A r.(?) p.(Gly97Asp) Parent #1 - pathogenic g.38287268C>T g.38429750C>T - - FGFR1_000234 - MORL Deafness Variation Database, PubMed: Dodé 2003, PubMed: Rajith 2013 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Dodé 2003, PubMed: Rajith 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.296A>G r.(?) p.(Tyr99Cys) Parent #1 - pathogenic g.38287262T>C g.38429744T>C - - FGFR1_000233 - MORL Deafness Variation Database, PubMed: Zhu 2015, PubMed: Dodé 2003, PubMed: Rajith 2013, PubMed: Miraoui 2013, PubMed: Raivio 2009, PubMed: Sykiotis 2010 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Zhu 2015, PubMed: Dodé 2003, PubMed: Rajith 2013, PubMed: Miraoui 2013, PubMed: Raivio 2009, PubMed: Sykiotis 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.296A>G r.(?) p.(Tyr99Cys) Unknown - pathogenic g.38287262T>C - - - FGFR1_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.296A>G r.(?) p.(Tyr99Cys) Unknown ACMG pathogenic (dominant) g.38287262T>C g.38429744T>C - - FGFR1_000233 - PubMed: Graziani 2024 - - Germline no - - - - DNA SEQ-NG-I fetal sample - HPE - PubMed: Graziani 2024 2-generation family, 2 affected (2M), unaffected heterozygous carrier parent M no - - - - - - 2 Ludovico Graziani
+?/+? 3 c.301T>G r.(?) p.(Cys101Gly) Parent #1 - likely pathogenic g.38287257A>C g.38429739A>C - - FGFR1_000232 - MORL Deafness Variation Database, PubMed: Quaynor 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Quaynor 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.302G>T r.(?) p.(Cys101Phe) Parent #1 - pathogenic g.38287256C>A g.38429738C>A - - FGFR1_000231 - MORL Deafness Variation Database, PubMed: Dodé 2007, PubMed: Rajith 2013 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Dodé 2007, PubMed: Rajith 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.303C>A r.(?) p.(Cys101*) Parent #1 - pathogenic g.38287255G>T g.38429737G>T - - FGFR1_000229 - MORL Deafness Variation Database, PubMed: Marcos 2014 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Marcos 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.303C>T r.(?) p.(Cys101=) Unknown - benign g.38287255G>A - FGFR1(NM_023110.3):c.303C>T (p.C101=) - FGFR1_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.303_304insCC r.(?) p.(Val102Profs*2) Parent #1 - pathogenic g.38287255_38287256insGG g.38429737_38429738insGG - - FGFR1_000230 - MORL Deafness Variation Database, PubMed: Dodé 2003 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Dodé 2003 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.319T>A r.(?) p.(Ser107Thr) Parent #1 - pathogenic g.38287239A>T g.38429721A>T - - FGFR1_000228 - MORL Deafness Variation Database, PubMed: Izumi 2014 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Izumi 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.320C>A r.(?) p.(Ser107*) Parent #1 - pathogenic g.38287238G>T g.38429720G>T - - FGFR1_000227 - MORL Deafness Variation Database, PubMed: Sato 2004, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Sato 2004, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.320C>T r.(?) p.(Ser107Leu) Unknown - benign g.38287238G>A g.38429720G>A FGFR1(NM_001174063.1):c.320C>T (p.(Ser107Leu)), FGFR1(NM_001174064.2):c.296C>T (p.S99L) - FGFR1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.320C>T r.(?) p.(Ser107Leu) Unknown - likely benign g.38287238G>A - FGFR1(NM_001174063.1):c.320C>T (p.(Ser107Leu)), FGFR1(NM_001174064.2):c.296C>T (p.S99L) - FGFR1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.326dup r.(?) p.(Ser109Argfs*2) Parent #1 - pathogenic g.38287232dup g.38429714dup - - FGFR1_000226 - MORL Deafness Variation Database, PubMed: Dodé 2009 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Dodé 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.327del r.(?) p.(Ser109Argfs*43) Parent #1 - pathogenic g.38287231del g.38429713del - - FGFR1_000225 - MORL Deafness Variation Database, PubMed: Dodé 2009 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Dodé 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.345C>T r.(?) p.(Ser115=) Unknown - benign g.38287213G>A g.38429695G>A FGFR1(NM_001174064.2):c.321C>T (p.S107=) - FGFR1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.345C>T r.(?) p.(Ser115=) Unknown - benign g.38287213G>A g.38429695G>A FGFR1(NM_001174064.2):c.321C>T (p.S107=) - FGFR1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.346G>A r.(?) p.(Val116Ile) Parent #1 - pathogenic g.38287212C>T g.38429694C>T - - FGFR1_000224 - MORL Deafness Variation Database, PubMed: Marcos 2014 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Marcos 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.346G>A r.(?) p.(Val116Ile) Unknown - likely benign g.38287212C>T - FGFR1(NM_001174064.1):c.322G>A (p.V108I) - FGFR1_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.347T>G r.(?) p.(Val116Gly) Parent #1 - likely pathogenic g.38287211A>C g.38429693A>C - - FGFR1_000223 - MORL Deafness Variation Database, PubMed: Dodé 2009 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Dodé 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.350A>G r.(?) p.(Asn117Ser) Parent #1 - pathogenic g.38287208T>C g.38429690T>C - - FGFR1_000222 - MORL Deafness Variation Database, PubMed: Raivio 2009, PubMed: Miraoui 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Raivio 2009, PubMed: Miraoui 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.359-2A>G r.spl? p.? Unknown - VUS g.38285955T>C - FGFR1(NM_023110.3):c.359-2A>G - FGFR1_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.386A>C r.(?) p.(Asp129Ala) Unknown - VUS g.38285926T>G g.38428408T>G FGFR1(NM_001174063.1):c.386A>C (p.(Asp129Ala)), FGFR1(NM_023110.2):c.386A>C (p.D129A) - FGFR1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.386A>C r.(?) p.(Asp129Ala) Parent #1 - pathogenic g.38285926T>G g.38428408T>G - - FGFR1_000024 - MORL Deafness Variation Database, PubMed: Albuisson 2005, PubMed: Rajith 2013 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Albuisson 2005, PubMed: Rajith 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.386A>C r.(?) p.(Asp129Ala) Unknown - VUS g.38285926T>G - FGFR1(NM_001174063.1):c.386A>C (p.(Asp129Ala)), FGFR1(NM_023110.2):c.386A>C (p.D129A) - FGFR1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.390_398dup r.(?) p.(Asp131_Asp133dup) Unknown - VUS g.38285925_38285933dup - FGFR1(NM_023110.2):c.390_398dupTGATGATGA (p.(Asp131_Asp133dup)) - FGFR1_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.396_398del r.(?) p.(Asp133del) Unknown - likely benign g.38285931_38285933del g.38428413_38428415del FGFR1(NM_001174064.2):c.372_374delTGA (p.D125del) - FGFR1_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.396_398dup r.(?) p.(Asp133dup) Unknown - likely benign g.38285931_38285933dup - FGFR1(NM_023110.3):c.396_398dupTGA (p.D133dup) - FGFR1_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.407C>A r.(?) p.(Ser136*) Parent #1 - pathogenic g.38285905G>T g.38428387G>T - - FGFR1_000221 - MORL Deafness Variation Database, PubMed: Marcos 2014 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Marcos 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.412G>T r.(?) p.(Glu138*) Parent #1 - pathogenic g.38285900C>A g.38428382C>A - - FGFR1_000220 - MORL Deafness Variation Database, PubMed: Marcos 2014 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Marcos 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.416A>G r.(?) p.(Lys139Arg) Parent #1 - pathogenic g.38285896T>C g.38428378T>C - - FGFR1_000219 - MORL Deafness Variation Database, PubMed: Marcos 2014 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Marcos 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.418G>T r.(?) p.(Glu140*) Parent #1 - pathogenic g.38285894C>A g.38428376C>A - - FGFR1_000218 - MORL Deafness Variation Database, PubMed: Marcos 2014 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Marcos 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 4 c.422C>G r.(?) p.(Thr141Arg) Parent #1 - likely pathogenic g.38285890G>C g.38428372G>C - - FGFR1_000217 - MORL Deafness Variation Database, PubMed: Costa-Barbosa 2013 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Costa-Barbosa 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.424_427del r.(?) p.(Asp142Thrfs*9) Parent #1 - pathogenic g.38285886_38285889del g.38428368_38428371del - - FGFR1_000216 - MORL Deafness Variation Database, PubMed: Dodé 2009 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Dodé 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.443G>A r.(?) p.(Arg148His) Parent #1 - pathogenic g.38285869C>T g.38428351C>T - - FGFR1_000215 - MORL Deafness Variation Database, PubMed: Balasubramanian 1993, PubMed: Laitinen 2011, PubMed: Vizeneux 2013 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Balasubramanian 1993, PubMed: Laitinen 2011, PubMed: Vizeneux 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.443G>A r.(?) p.(Arg148His) Unknown - VUS g.38285869C>T - FGFR1(NM_023110.2):c.443G>A (p.(Arg148His)) - FGFR1_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445A>G r.(?) p.(Met149Val) Unknown - VUS g.38285867T>C - FGFR1(NM_023110.3):c.445A>G (p.M149V) - FGFR1_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.449-9C>G r.(=) p.(=) Unknown - benign g.38285620G>C g.38428102G>C FGFR1(NM_001174064.1):c.425-9C>G, FGFR1(NM_001174064.2):c.425-9C>G, FGFR1(NM_023110.2):c.449-9C>G - FGFR1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.449-9C>G r.(=) p.(=) Unknown - benign g.38285620G>C g.38428102G>C FGFR1(NM_001174064.1):c.425-9C>G, FGFR1(NM_001174064.2):c.425-9C>G, FGFR1(NM_023110.2):c.449-9C>G - FGFR1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.449-9C>G r.(=) p.(=) Unknown - likely benign g.38285620G>C g.38428102G>C FGFR1(NM_001174064.1):c.425-9C>G, FGFR1(NM_001174064.2):c.425-9C>G, FGFR1(NM_023110.2):c.449-9C>G - FGFR1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.449-9C>G r.(=) p.(=) Unknown - likely benign g.38285620G>C - FGFR1(NM_001174064.1):c.425-9C>G, FGFR1(NM_001174064.2):c.425-9C>G, FGFR1(NM_023110.2):c.449-9C>G - FGFR1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.449-6G>A r.(=) p.(=) Unknown - likely pathogenic g.38285617C>T - - - FGFR1_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.479del r.(?) p.(Lys160Argfs*15) Unknown - pathogenic g.38285584del g.38428066del 479delA - FGFR1_000267 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - HH2;KAL2 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/+ 5 c.482T>C r.(?) p.(Met161Thr) Parent #1 - pathogenic g.38285578A>G g.38428060A>G - - FGFR1_000214 - MORL Deafness Variation Database, PubMed: Jarzabek 2012 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Jarzabek 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.494T>C r.(?) p.(Leu165Ser) Parent #1 - pathogenic g.38285566A>G g.38428048A>G - - FGFR1_000213 - MORL Deafness Variation Database, PubMed: Simonis 2013, PubMed: Solomon 1993, PubMed: Vilain 2009 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Simonis 2013, PubMed: Solomon 1993, PubMed: Vilain 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.499G>T r.(?) p.(Ala167Ser) Parent #1 - pathogenic g.38285561C>A g.38428043C>A - - FGFR1_000212 - MORL Deafness Variation Database, PubMed: Dodé 2003, PubMed: Rajith 2013, PubMed: Thurman 2012 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Dodé 2003, PubMed: Rajith 2013, PubMed: Thurman 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.506C>T r.(?) p.(Pro169Leu) Parent #1 - pathogenic g.38285554G>A g.38428036G>A - - FGFR1_000211 - MORL Deafness Variation Database, PubMed: Shaw 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Shaw 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.521T>C r.(?) p.(Val174Ala) Parent #1 - pathogenic g.38285539A>G g.38428021A>G - - FGFR1_000210 - MORL Deafness Variation Database, PubMed: Marcos 2014 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Marcos 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.533G>C r.(?) p.(Cys178Ser) Parent #1 - pathogenic g.38285527C>G g.38428009C>G - - FGFR1_000209 - MORL Deafness Variation Database, PubMed: Zenaty 2006, PubMed: Rajith 2013 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Zenaty 2006, PubMed: Rajith 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.565C>T r.(?) p.(Arg189Cys) Parent #1 - pathogenic g.38285495G>A g.38427977G>A - - FGFR1_000208 - MORL Deafness Variation Database, PubMed: Balasubramanian 1993, PubMed: Laitinen 2011 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Balasubramanian 1993, PubMed: Laitinen 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.570G>A r.(?) p.(Trp190*) Parent #1 - pathogenic g.38285490C>T g.38427972C>T - - FGFR1_000207 - MORL Deafness Variation Database, PubMed: Doknic 2012 - - SUMMARY record - - - - - DNA ? - - KS - PubMed: Doknic 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.572T>C r.(?) p.(Leu191Ser) Parent #1 - pathogenic g.38285488A>G g.38427970A>G - - FGFR1_000206 - MORL Deafness Variation Database, PubMed: Simonis 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Simonis 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
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