Full data view for gene VHL

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

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
-?/-? - c.-36C>G r.(=) p.(=) Parent #2 g.10183496C>G - VHL_000019 rs1349047110 - Germline - - - - DNA SEQ-NG-I 1 CMM3, ENC - F Eleusis - Greek no - 1 Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) Parent #2 g.(10188276_10191524)_(10191593_?)del Franke et al (2009) VHL_000037 - Deletion extending 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - VHL exon 3 deletion - - DNA SEQ 1 BBT, PanLes, RenLes - F Heraklion, Crete - Greek no - 4 Despoina Kalfakakou
+/+ 1 c.(?) r.(?) p.(?) Parent #2 g.(10183453_10183569)_(10183988_10187800)del - VHL_000038 - HGVS description is probe-based. Germline - VHL exon 1 deletion - - DNA MLPA 1 BBT, HMGM, PanLes, RCC, RenLes - F Volos - Greek no - 2 Despoina Kalfakakou
+/+ 1 c.(?) r.(?) p.(?) Maternal (confirmed) g.(10183453_10183569)_(10183988_10187800)del - VHL_000038 - HGVS description is probe-based. Germline - VHL exon 1 deletion - - DNA MLPA 0 HMGM - F - - - no - 1 Despoina Kalfakakou
+/+ - c.264 G>C r.(?) p.(Trp88Cys) Paternal (confirmed) g.10183795G>C Rechsteiner et al (2011), Gläsker et al (1999) VHL_000024 rs869025622 - Germline ? - - - DNA SEQ 0 - - F - - Greek no - 3 Despoina Kalfakakou
+/+ - c.294 C>A r.(?) p.(Tyr98*) Maternal (inferred) g.10183825C>A - VHL_000033 rs1559426115 - Germline ? - - - DNA SEQ 1 BBT - M Messenia - Greek no - 3 Despoina Kalfakakou
+/+ - c.337 C>T r.(?) p.(Arg113*) Maternal (inferred) g.10183868C>T Zbar et al (1996) VHL_000034 rs5030810 - Germline ? - - - DNA SEQ 1 BBT - F Kozani Athens Greek no - 1 Despoina Kalfakakou
-?/-? - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - DNA SEQ-NG-I 1 - - F Elassona, Larisa - Greek no - 2 Despoina Kalfakakou
-?/-? - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Boeotia Greek no - 1 Despoina Kalfakakou
-?/-? - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 3 Despoina Kalfakakou
-?/-? - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina - Greek no - 1 Despoina Kalfakakou
-?/-? - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Skopelos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Gjirokaster Greek no - 1 Despoina Kalfakakou
-?/-? - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - DNA SEQ-NG-I 1 - - F Stavros, Lamia Lamia Greek no - 1 Despoina Kalfakakou
-?/-? - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Italy - Italian no - 1 Despoina Kalfakakou
-?/-? - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Patra Livadeia Greek no - 1 Despoina Kalfakakou
-?/-? - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lechaina, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - Greek - - 1 Stevi Xera
?/? - c.104C>A r.(?) p.(Ala35Asp) Parent #2 g.10183635C>A - VHL_000023 rs587780536 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Nafpaktos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.114C>T r.(=) p.(=) Parent #2 g.10183645C>T - VHL_000013 rs417164 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Drama Elis Greek no - 1 Despoina Kalfakakou
-?/-? - c.114C>T r.(=) p.(=) Parent #2 g.10183645C>T - VHL_000013 rs417164 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
?/? - c.181C>G r.(?) p.(Pro61Ala) Parent #2 g.10183712C>G - VHL_000003  rs113612866 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Crete Katouna, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
?/? - c.181C>G r.(?) p.(Pro61Ala) Parent #2 g.10183712C>G - VHL_000003  rs113612866 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Meramvellou, Crete - Greek no - 1 Despoina Kalfakakou
-?/-? - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Poros - Greek no - 1 Despoina Kalfakakou
-?/-? - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Giannitsa Nymfaio, Florina Greek no - 1 Despoina Kalfakakou
-?/-? - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Santorini - Greek no - 1 Despoina Kalfakakou
-?/-? - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - DNA SEQ-NG-I 1 RCC - M Karditsa - Greek no - 1 Despoina Kalfakakou
-?/-? - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - DNA SEQ-NG-I 1 CMM3, PNCA2, TRC - M Andronianos, Euboea Dendra, Euboea Greek no - 1 Despoina Kalfakakou
-?/-? - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Northern Epirus Karkinagri, Icaria Greek no - 1 Despoina Kalfakakou
-?/-? - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Athens Phthiotis Greek no - 1 Despoina Kalfakakou
-?/-? - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Eora, Xanthi, Pomaks - Greek no - 1 Despoina Kalfakakou
+/+ - c.207_208del r.(?) p.(Glu70Alafs*61) Paternal (confirmed) g.10183738_10183739del - VHL_000036 - - Germline ? - - - DNA SEQ 1 Les, PanLes, RCC, RenLes - M Drepano, Nafplion - Greek no - 15 Despoina Kalfakakou
+/+ - c.207_208del r.(?) p.(Glu70Alafs*61) Paternal (confirmed) g.10183738_10183739del - VHL_000036 - - Germline ? - - - DNA SEQ 0 BBT, RenLes - F Drepano, Nafplion - Greek no - 14 Despoina Kalfakakou
+/+ - c.227_229del r.(?) p.(Phe76del) Parent #2 g.10183758_10183760del Ong et al (2007) VHL_000035 rs5030648 - Germline ? - - - DNA SEQ 1 - - F - - Greek no - 1 Despoina Kalfakakou
+/+ - c.227_229del r.(?) p.(Phe76del) Maternal (inferred) g.10183758_10183760del Ong et al (2007) VHL_000035 rs5030648 - Germline - - - - DNA SEQ 1 BBT, PanLes, RenLes - M Heraklion, Crete Chania, Crete Greek no - 1 Despoina Kalfakakou
+/+ - c.233A>C r.(?) p.(Asn78Thr) Paternal (inferred) g.10183764A>C Qi et al (2013) VHL_000025 rs5030804 - Germline ? - - - DNA SEQ 1 HMGM, RCC - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.258C>G r.(=) p.(=) Parent #2 g.10183789C>G - VHL_000005 rs781063331 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Trikala - Greek no - 1 Despoina Kalfakakou
?/? - c.258C>G r.(=) p.(=) Parent #2 g.10183789C>G - VHL_000005 rs781063331 - Germline - - - - DNA SEQ-NG-I 1 - - F Ilia Amarynthos, Euboea Greek no - 1 Despoina Kalfakakou
+/+ - c.259del r.(?) p.(Val87Tyrfs*72) Parent #2 g.10183790del - VHL_000029 - - Germline ? - - - DNA SEQ 1 BBT - F Farsala - Greek no - 4 Despoina Kalfakakou
./. - c.280G>A r.(?) p.(Glu94Lys) Parent #2 g.10183811G>A - VHL_000039 rs5030829 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thebes - - - - 1 Stevi Xera
-?/-? - c.297A>C r.(=) p.(=) Parent #2 g.10183828A>C - VHL_000016  rs774753107 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki Kavala Greek no - 1 Despoina Kalfakakou
+/+ - c.332G>A r.(?) p.(Ser111Asn) Maternal (inferred) g.10183863G>A Ong et al (2007) VHL_000030 rs869025631 - Germline ? - - - DNA SEQ 1 HMGM, RenLes, SCT - F Amaliada Canada Greek no - 5 Despoina Kalfakakou
?/? - c.340+24G>A r.(=) p.(=) Parent #2 g.10183895G>A - VHL_000006 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Crete Ermioni Greek no - 1 Despoina Kalfakakou
?/? - c.341-15T>C r.(=) p.(=) Parent #2 g.10188183T>C - VHL_000014 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agia, Rethymno Perama, Rethymno Greek no - 1 Despoina Kalfakakou
-?/-? - c.341-5G>A r.spl? p.? Parent #2 g.10188193G>A - VHL_000015 rs372340900 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Germany Ierapetra Greek no - 1 Despoina Kalfakakou
-?/-? - c.345C>T r.(=) p.(=) Parent #2 g.10188202C>T - VHL_000007  rs864622646 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.345C>T r.(=) p.(=) Parent #2 g.10188202C>T - VHL_000007  rs864622646 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama - Greek no - 1 Despoina Kalfakakou
+/+ - c.350G>A r.(?) p.(Trp117*) Maternal (confirmed) g.10188207G>A - VHL_000027 rs1559428056 - Germline ? - - - DNA SEQ 1 BBT, PanLes, SCT - F Kalampaki, Drama Nikisiani, Kavala Greek no - 10 Despoina Kalfakakou
+/+ - c.350G>A r.(?) p.(Trp117*) Maternal (confirmed) g.10188207G>A - VHL_000027 rs1559428056 - Germline ? - - - DNA SEQ 0 BBT, PanLes - F Kalampaki, Drama Nikisiani, Kavala Greek no - 9 Despoina Kalfakakou
+/+ - c.350G>A r.(?) p.(Trp117*) Parent #2 g.10188207G>A - VHL_000027 rs1559428056 - Germline ? - - - DNA SEQ 0 BBT, HMGM, PanLes, Pheo - F Nikisiani, Drama - Greek no - 9 Despoina Kalfakakou
+/+ - c.350G>A r.(?) p.(Trp117*) Maternal (confirmed) g.10188207G>A - VHL_000027 rs1559428056 - Germline ? - - - DNA SEQ 0 Healthy/Control - F - - Greek no - 9 Despoina Kalfakakou
+/+ - c.350G>A r.(?) p.(Trp117*) Maternal (confirmed) g.10188207G>A - VHL_000027 rs1559428056 - Germline ? - - - DNA SEQ 0 BBT - M - - Greek no - 9 Despoina Kalfakakou
+/+ - c.350G>A r.(?) p.(Trp117*) Maternal (confirmed) g.10188207G>A - VHL_000027 rs1559428056 - Germline ? - - - DNA SEQ 0 Healthy/Control - M - - Greek no - 9 Despoina Kalfakakou
+/+ - c.350G>A r.(?) p.(Trp117*) Parent #2 g.10188207G>A - VHL_000027 rs1559428056 - Germline ? - - - DNA SEQ 0 Healthy/Control - F Nikisiani, Kavala Kavala Greek no - 9 Despoina Kalfakakou
+/+ - c.350G>A r.(?) p.(Trp117*) Parent #2 g.10188207G>A - VHL_000027 rs1559428056 - Germline ? - - - DNA SEQ 0 Healthy/Control - M Nikisiani, Kavala Kavala Greek no - 9 Despoina Kalfakakou
+/+ - c.350G>A r.(?) p.(Trp117*) Parent #2 g.10188207G>A - VHL_000027 rs1559428056 - Germline - - - - DNA SEQ 0 RCC - M Nikisiani, Kavala - Greek no - 9 Despoina Kalfakakou
+/+ - c.353T>C r.(?) p.(Leu118Pro) Maternal (inferred) g.10188210T>C Ong et al (2007) VHL_000028 rs5030830 - Germline ? - - - DNA SEQ 1 BBT - M - - Greek no - 1 Despoina Kalfakakou
?/? - c.373C>T r.(?) p.(His125Tyr) Parent #2 g.10188230C>T - VHL_000022  rs375401722 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Karditsa Greek no - 1 Despoina Kalfakakou
-?/-? - c.375C>T r.(=) p.(=) Parent #2 g.10188232C>T - VHL_000018 rs863224372 - Germline - - - - DNA SEQ-NG-I 1 TRC - F Monacho - German no - 1 Despoina Kalfakakou
-?/-? - c.463+8C>T r.(=) p.(=) Parent #2 g.10188328C>T - VHL_000008 rs5030834 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Greeks of Australia - Greek no - 1 Despoina Kalfakakou
+/+ - c.551T>C r.(?) p.(Leu184Pro) Parent #2 g.10191558T>C Zbar et al (1996) VHL_000026 rs1064793878 - Germline ? - - - DNA SEQ 1 RCC - F - - Greek no - 2 Despoina Kalfakakou
+/+ - c.551T>C r.(?) p.(Leu184Pro) Parent #2 g.10191558T>C Zbar et al (1996) VHL_000026 rs1064793878 - Germline ? - - - DNA SEQ 0 HMGM - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.552C>T r.(=) p.(=) Parent #2 g.10191559C>T - VHL_000009 rs779157605 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Amaliada - Greek no - 1 Despoina Kalfakakou
+/+ - c.556G>T r.(?) p.(Glu186*) Paternal (inferred) g.10191563G>T Zbar et al (1996) VHL_000032 rs367545984 - Germline ? - - - DNA SEQ 1 ADNM, Pheo, RCC - M Pontokomi, Kozani Kordelio, Thessaloniki Greek no - 2 Despoina Kalfakakou
+/+ - c.563T>G r.(?) p.(Leu188Arg) Maternal (inferred) g.10191570T>G Leonardi et al (2011) VHL_000031 rs1559429824 - Germline ? - - - DNA SEQ 1 RCC, SCT - M Serres Veria Greek no - 2 Despoina Kalfakakou
?/? - c.575C>G r.(?) p.(Pro192Arg) Parent #2 g.10191582C>G - VHL_000020 rs902694906 - Germline - - - - DNA SEQ-NG-I 1 BBT, PGL2 - F Gytheio, Laconia Chosiario, Laconia Greek no - 5 Despoina Kalfakakou
?/? - c.575C>G r.(?) p.(Pro192Arg) Parent #2 g.10191582C>G - VHL_000020 rs902694906 - Germline ? - - - DNA SEQ 0 Healthy/Control - F Chosiario, Laconia Koufovouno, Didymoteicho Greek no - 4 Despoina Kalfakakou
?/? - c.575C>G r.(?) p.(Pro192Arg) Parent #2 g.10191582C>G - VHL_000020 rs902694906 - Germline ? - - - DNA SEQ 0 Healthy/Control - F Koufovouno, Didymoteicho - Greek no - 4 Despoina Kalfakakou
?/? - c.588A>G r.(=) p.(=) Parent #2 g.10191595A>G - VHL_000021 - - Germline - - - - DNA SEQ-NG-I 1 BBT, PGL2 - F Gytheio, Laconia Chosiario, Laconia Greek no - 5 Despoina Kalfakakou
?/? - c.628C>T r.(?) p.(Arg210Trp) Parent #2 g.10191635C>T - VHL_000012 rs774380450 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Andros Athens Greek no - 1 Despoina Kalfakakou
?/? - c.629G>A r.(?) p.(Arg210Gln) Parent #2 g.10191636G>A - VHL_000010 rs138780791 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F England - Greek no - 1 Despoina Kalfakakou
-?/-? - c.631A>C r.(?) p.(Met211Leu) Parent #2 g.10191638A>C - VHL_000011 rs200019083 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chios Corfu Greek no - 1 Despoina Kalfakakou
?/? - c.*22C>G r.(=) p.(=) Parent #2 g.10191671C>G - VHL_000017 - - Germline - - - - DNA SEQ-NG-I 1 - - F Kastoria Egypt Greek no - 1 Despoina Kalfakakou
?/? - c.*47A>G r.(=) p.(=) Parent #2 g.10191696A>G - VHL_000002 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, NHL - F Kavala Eleftheroupoli Greek no - 1 Despoina Kalfakakou
Legend