Full data view for gene RET

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

214 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-13G>A r.(=) p.(=) Parent #2 g.43572694G>A - RET_000047 - - - - DNA SEQ-NG-I 1 OVCA - F Zagoria, Ioannina Vissani, Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.-13G>A r.(=) p.(=) Parent #2 g.43572694G>A - RET_000047 - - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki Serres Greek no - 1 Despoina Kalfakakou
./. - c.-13G>A r.(=) p.(=) Parent #2 g.43572694G>A - RET_000047 - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Gytheio Greek no - 1 Despoina Kalfakakou
./. - c.20G>A r.(?) p.(Gly7Asp) Parent #2 g.43572726G>A - RET_000035 - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki Costantinople Greek no - 1 Despoina Kalfakakou
./. - c.20G>C r.(?) p.(Gly7Ala) Parent #2 g.43572726G>C - RET_000100 - - - - DNA SEQ-NG-I 1 BrCa - F Evraiki, Chios Volos Greek no - 1 Despoina Kalfakakou
./. - c.73+30G>A r.(=) p.(=) Parent #2 g.43572809G>A - RET_000060 - - - - DNA SEQ-NG-I 1 BrCa - F Arachnaio, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.74-50G>C r.(=) p.(=) Parent #2 g.43595857G>C - RET_000080 - - - - DNA SEQ-NG-I 1 PGL2 - F Rhodes - Greek no - 4 Despoina Kalfakakou
./. - c.79T>C r.(=) p.(=) Parent #2 g.43595912T>C - RET_000078 - - - - DNA SEQ-NG-I 1 CAL, NF - F Uzbekistan Georgia Greek no - 2 Despoina Kalfakakou
./. - c.166C>A r.(?) p.(Leu56Met) Parent #2 g.43595999C>A - RET_000039 - - - - DNA SEQ-NG-I 1 Polyposis - M Almiros, Volos - Greek no - 3 Despoina Kalfakakou
./. - c.166C>A r.(?) p.(Leu56Met) Parent #2 g.43595999C>A - RET_000039 - - - - DNA SEQ-NG-I 1 BrCa - F Mani Kymi, Evia Greek no - 1 Despoina Kalfakakou
./. - c.166C>A r.(?) p.(Leu56Met) Parent #2 g.43595999C>A - RET_000039 - - - - DNA SEQ-NG-I 1 CAL, Schw - F Zakynthos Syros Greek no - 3 Despoina Kalfakakou
./. - c.166C>A r.(?) p.(Leu56Met) Parent #2 g.43595999C>A - RET_000039 - - - - DNA SEQ-NG-I 1 CAL, Schw - F Zakynthos Syros Greek no - 3 Despoina Kalfakakou
./. - c.200G>A r.(?) p.(Arg67His) Parent #2 g.43596033G>A - RET_000099 - - - - DNA SEQ-NG-I 1 BrCa - F Samos Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.220G>A r.(?) p.(Gly74Ser) Parent #2 g.43596053G>A - RET_000038 - - - - DNA SEQ-NG-I 1 ColPol, Polyposis - M Trikala, Thessaly - Greek no - 3 Despoina Kalfakakou
./. - c.224C>T r.(?) p.(Thr75Met) Parent #2 g.43596057C>T - RET_000068 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.224C>T r.(?) p.(Thr75Met) Parent #2 g.43596057C>T - RET_000068 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus/ Kilkis - Greek no - 1 Despoina Kalfakakou
./. - c.224C>T r.(?) p.(Thr75Met) Parent #2 g.43596057C>T - RET_000068 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Drama & Pontus Evros Greek no - 1 Despoina Kalfakakou
./. - c.304G>A r.(?) p.(Asp102Asn) Parent #2 g.43596137G>A - RET_000036 - - - - DNA SEQ-NG-I 1 BrCa - F Nea Koutali, Lemnos Kallithea, Lemnos Greek no - 3 Despoina Kalfakakou
./. - c.304G>A r.(?) p.(Asp102Asn) Parent #2 g.43596137G>A - RET_000036 - - - - DNA SEQ-NG-I 1 BrCa - F Salcea, Suceava, Romania - Romanian no - 1 Despoina Kalfakakou
./. - c.337+34C>T r.(=) p.(=) Parent #2 g.43596204C>T - RET_000055 - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.337+34C>T r.(=) p.(=) Parent #2 g.43596204C>T - RET_000055 - - - - DNA SEQ-NG-I 1 BrCa - F Amyntaio - Greek no - 1 Despoina Kalfakakou
./. - c.337+34C>T r.(=) p.(=) Parent #2 g.43596204C>T - RET_000055 - - - - DNA SEQ-NG-I 1 OVCA - F Drama Samos Greek no - 1 Despoina Kalfakakou
./. - c.337+41A>C r.(=) p.(=) Parent #2 g.43596211A>C - RET_000098 - - - - DNA SEQ-NG-I 1 OVCA - F Daras, Messini - Greek no - 1 Despoina Kalfakakou
./. - c.341G>A r.(?) p.(Arg114His) Parent #2 g.43597793G>A - RET_000053 rs76397662 - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi Attica Region Region Greek no - 1 Despoina Kalfakakou
./. - c.452A>G r.(?) p.(Asn151Ser) Parent #2 g.43597904A>G - RET_000064 - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Izmir Greek no - 1 Despoina Kalfakakou
./. - c.468C>T r.(=) p.(=) Parent #2 g.43597920C>T - RET_000091 - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
./. - c.597C>T r.(=) p.(=) Parent #2 g.43598049C>T - RET_000023 rs55810667 - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.597C>T r.(=) p.(=) Parent #2 g.43598049C>T - RET_000023 rs55810667 - - - DNA SEQ-NG-I 1 OVCA - F Corinth - Greek no - 1 Despoina Kalfakakou
./. - c.597C>T r.(=) p.(=) Parent #2 g.43598049C>T - RET_000023 rs55810667 - - - DNA SEQ-NG-I 1 BrCa - F Agrinio Karpenisi Greek no - 1 Despoina Kalfakakou
./. - c.626-41G>A r.(=) p.(=) Parent #2 g.43600359G>A - RET_000008 - - - - DNA SEQ-NG-I 1 BrCa, ENC - F Asia Minor Sparti Greek no - 1 Despoina Kalfakakou
./. - c.626-41G>A r.(=) p.(=) Parent #2 g.43600359G>A - RET_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Kavala - Greek no - 1 Despoina Kalfakakou
./. - c.626-41G>A r.(=) p.(=) Parent #2 g.43600359G>A - RET_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Lemnos - Greek no - 1 Despoina Kalfakakou
./. - c.626-41G>A r.(=) p.(=) Parent #2 g.43600359G>A - RET_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.626-41G>A r.(=) p.(=) Parent #2 g.43600359G>A - RET_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
./. - c.626-41G>A r.(=) p.(=) Parent #2 g.43600359G>A - RET_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Corfu - Greek no - 1 Despoina Kalfakakou
./. - c.626-41G>A r.(=) p.(=) Parent #2 g.43600359G>A - RET_000008 - - - - DNA SEQ-NG-I 1 PrCa - M Gymno, Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.626-41G>A r.(=) p.(=) Parent #2 g.43600359G>A - RET_000008 - - - - DNA SEQ-NG-I 1 OVCA - F Symi Alexandria, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.626-41G>A r.(=) p.(=) Parent #2 g.43600359G>A - RET_000008 - - - - DNA SEQ-NG-I 1 OVCA - F İzmir, Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.626-21C>T r.(=) p.(=) Parent #2 g.43600379C>T - RET_000079 - - - - DNA SEQ-NG-I 1 BrainCa - M Kavala Paphos, Cyprus Greek no - 1 Despoina Kalfakakou
./. - c.628G>A r.(?) p.(Glu210Lys) Parent #2 g.43600402G>A - RET_000089 - - - - DNA SEQ-NG-I 1 OVCA - F Samos - Greek no - 1 Despoina Kalfakakou
./. - c.628G>A r.(?) p.(Glu210Lys) Parent #2 g.43600402G>A - RET_000089 - - - - DNA SEQ-NG-I 1 OVCA - F Galatista, Halkidiki - Greek no - 1 Despoina Kalfakakou
./. - c.731C>T r.(?) p.(Thr244Ile) Parent #2 g.43600505C>T - RET_000083 - - - - DNA SEQ-NG-I 1 BrCa, MXM - F Edessa Edessa Greek no - 3 Despoina Kalfakakou
./. - c.785T>C r.(?) p.(Val262Ala) Parent #2 g.43600559T>C - RET_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.785T>C r.(?) p.(Val262Ala) Parent #2 g.43600559T>C - RET_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus - Cypriot no - 1 Despoina Kalfakakou
./. - c.785T>C r.(?) p.(Val262Ala) Parent #2 g.43600559T>C - RET_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.785T>C r.(?) p.(Val262Ala) Parent #2 g.43600559T>C - RET_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.785T>C r.(?) p.(Val262Ala) Parent #2 g.43600559T>C - RET_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Ierapetra Samos Greek no - 1 Despoina Kalfakakou
./. - c.785T>C r.(?) p.(Val262Ala) Parent #2 g.43600559T>C - RET_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Nafpaktos - Greek no - 1 Despoina Kalfakakou
./. - c.785T>C r.(?) p.(Val262Ala) Parent #2 g.43600559T>C - RET_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion Thera Greek no - 1 Despoina Kalfakakou
./. - c.785T>C r.(?) p.(Val262Ala) Parent #2 g.43600559T>C - RET_000006 - - - - DNA SEQ-NG-I 1 MNGM - M Kefalonia Cyprus Greek no - 1 Despoina Kalfakakou
./. - c.785T>C r.(?) p.(Val262Ala) Parent #2 g.43600559T>C - RET_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Crete İzmir Greek no - 1 Despoina Kalfakakou
./. - c.834C>T r.(=) p.(=) Parent #2 g.43600608C>T - RET_000107 rs41306550 - - - DNA SEQ-NG-I 1 BrCa - F Serres Arta Greek no - 1 Despoina Kalfakakou
./. - c.868-9A>G r.(=) p.(=) Parent #2 g.43601815A>G - RET_000086 - - - - DNA SEQ-NG-I 1 BrCa - F Katerini Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.874G>A r.(?) p.(Val292Met) Parent #2 g.43601830G>A - RET_000095 rs34682185 - - - DNA SEQ-NG-I 1 BrCa - F Samos Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.957C>A r.(=) p.(=) Parent #2 g.43601913C>A - RET_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.961G>A r.(?) p.(Gly321Arg) Parent #2 g.43601917G>A - RET_000050 - - - - DNA SEQ-NG-I 1 BrCa - F Pandrosos, Rodhope Sappes, Rodhope Greek no - 1 Despoina Kalfakakou
./. - c.1013C>T r.(?) p.(Thr338Ile) Parent #2 g.43601969C>T - RET_000034 - - - - DNA SEQ-NG-I 1 CRC - M Stasimo, Messenia - Greek no - 1 Despoina Kalfakakou
./. - c.1013C>T r.(?) p.(Thr338Ile) Parent #2 g.43601969C>T - RET_000034 - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.1017G>A r.(=) p.(=) Parent #2 g.43601973G>A - RET_000096 - - - - DNA SEQ-NG-I 1 BrCa, CMM2 - F Germany United Kingdom NGE no - 1 Despoina Kalfakakou
./. - c.1050C>T r.(=) p.(=) Parent #2 g.43602006C>T - RET_000075 - - - - DNA SEQ-NG-I 1 SIC - F Pontus Sürmene, Pontus Greek no - 1 Despoina Kalfakakou
./. - c.1051G>A r.(?) p.(Val351Ile) Parent #2 g.43602007G>A - RET_000070 - - - - DNA SEQ-NG-I 1 CUP, GaPol - F Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.1063+9G>A r.(=) p.(=) Parent #2 g.43602028G>A - RET_000025 - - - - DNA SEQ-NG-I 1 BrCa - F Ampelonas, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.1063+37C>T r.(=) p.(=) Parent #2 g.43602056C>T - RET_000094 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Gytheio Greek no - 1 Despoina Kalfakakou
./. - c.1063+47G>A r.(=) p.(=) Parent #2 g.43602066G>A - RET_000052 - - - - DNA SEQ-NG-I 1 OVCA - F Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.1063+47G>A r.(=) p.(=) Parent #2 g.43602066G>A - RET_000052 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Mitilini - Greek no - 1 Despoina Kalfakakou
./. - c.1063+47G>A r.(=) p.(=) Parent #2 g.43602066G>A - RET_000052 - - - - DNA SEQ-NG-I 1 BrCa - F Vavouri, Thesprotia - Greek no - 4 Despoina Kalfakakou
./. - c.1063+47G>A r.(=) p.(=) Parent #2 g.43602066G>A - RET_000052 - - - - DNA SEQ-NG-I 1 BrCa - F Andros USA Greek no - 4 Despoina Kalfakakou
./. - c.1063+47G>A r.(=) p.(=) Parent #2 g.43602066G>A - RET_000052 - - - - DNA SEQ-NG-I 1 NDL - F Megalochori, Lesvos Africa-UK-Sweden Greek no - 1 Despoina Kalfakakou
./. - c.1063+47G>A r.(=) p.(=) Parent #2 g.43602066G>A - RET_000052 - - - - DNA SEQ-NG-I 1 PrCa - M Thasos - Greek no - 1 Despoina Kalfakakou
./. - c.1063+47G>A r.(=) p.(=) Parent #2 g.43602066G>A - RET_000052 - - - - DNA SEQ-NG-I 1 BrainCa - M Kavala Paphos, Cyprus Greek no - 1 Despoina Kalfakakou
./. - c.1063+47G>A r.(=) p.(=) Parent #2 g.43602066G>A - RET_000052 - - - - DNA SEQ-NG-I 1 BrCa - F Volos Palaiovracha, Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.1063+47G>A r.(=) p.(=) Parent #2 g.43602066G>A - RET_000052 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.1064-22A>G r.(=) p.(=) Parent #2 g.43604457A>G - RET_000097 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.1095G>A r.(=) p.(=) Parent #2 g.43604510G>A - RET_000045 - - - - DNA SEQ-NG-I 1 ColPol - M Kalamata Sparti Greek no - 1 Despoina Kalfakakou
./. - c.1118C>T r.(?) p.(Ala373Val) Parent #2 g.43604533C>T - RET_000026 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Thessaloniki Kavala Greek no - 1 Despoina Kalfakakou
./. - c.1158G>A r.(=) p.(=) Parent #2 g.43604573G>A - RET_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Veroia Greek no - 1 Despoina Kalfakakou
./. - c.1158G>A r.(=) p.(=) Parent #2 g.43604573G>A - RET_000027 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Ioannina Karditsa Greek no - 2 Despoina Kalfakakou
./. - c.1158G>A r.(=) p.(=) Parent #2 g.43604573G>A - RET_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion, Crete & Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.1258G>A r.(?) p.(Ala420Thr) Parent #2 g.43604673G>A - RET_000065 - - - - DNA SEQ-NG-I 1 BrCa - F Athanasions Diakos, Phthiotis Athens Greek no - 1 Despoina Kalfakakou
./. - c.1258G>A r.(?) p.(Ala420Thr) Parent #2 g.43604673G>A - RET_000065 - - - - DNA SEQ-NG-I 1 OVCA - F Athens Phthiotis Greek no - 1 Despoina Kalfakakou
./. - c.1263+30_1263+37del r.(=) p.(=) Parent #2 g.43604708_43604715del - RET_000074 - - - - DNA SEQ-NG-I 1 CMM3, ENC - F Eleusis - Greek no - 1 Despoina Kalfakakou
./. - c.1263+47G>C r.(=) p.(=) Parent #2 g.43604725G>C - RET_000108 - - - - DNA SEQ-NG-I 1 BrCa - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.1264-43C>T r.(=) p.(=) Parent #2 g.43606612C>T - RET_000076 - - - - DNA SEQ-NG-I 1 PrCa - M Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.1264-15C>T r.(=) p.(=) Parent #2 g.43606640C>T - RET_000058 - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Serifos Greek no - 1 Despoina Kalfakakou
./. - c.1264-15C>T r.(=) p.(=) Parent #2 g.43606640C>T - RET_000058 - - - - DNA SEQ-NG-I 1 Healthy/Control - - - - - - - 1 Despoina Kalfakakou
./. - c.1264-4C>T r.spl? p.? Parent #2 g.43606651C>T - RET_000028 - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.1264-4C>T r.spl? p.? Parent #2 g.43606651C>T - RET_000028 - - - - DNA SEQ-NG-I 1 BrCa - F Eastern Trace Eastern Rumelia Greek no - 1 Despoina Kalfakakou
./. - c.1266C>T r.(=) p.(=) Parent #2 g.43606657C>T - RET_000102 - - - - DNA SEQ-NG-I 1 OVCA - F Agios Nikolaos, Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.1308C>T r.(=) p.(=) Parent #2 g.43606699C>T - RET_000101 - - - - DNA SEQ-NG-I 1 BrCa - F Ageliana, Rethymn Livadia, Rethymn Greek no - 1 Despoina Kalfakakou
./. - c.1311C>T r.(=) p.(=) Parent #2 g.43606702C>T - RET_000049 - - - - DNA SEQ-NG-I 1 BrCa - F Italy Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.1386G>A r.(=) p.(=) Parent #2 g.43606777G>A - RET_000041 - - - - DNA SEQ-NG-I 1 BrCa - F Xylagani, Rodhope - Greek no - 1 Despoina Kalfakakou
./. - c.1432T>C r.(?) p.(Cys478Arg) Parent #2 g.43606823T>C - RET_000104 - - - - DNA SEQ-NG-I 1 OVCA - F Galatista, Halkidiki - Greek no - 1 Despoina Kalfakakou
./. - c.1465G>A r.(?) p.(Asp489Asn) Parent #2 g.43606856G>A - RET_000046 rs9282834 - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta Athens Greek no - 1 Despoina Kalfakakou
./. - c.1465G>A r.(?) p.(Asp489Asn) Parent #2 g.43606856G>A - RET_000046 rs9282834 - - - DNA SEQ-NG-I 1 OVCA - F Philippines - Greek no - 1 Despoina Kalfakakou
./. - c.1530C>T r.(=) p.(=) Parent #2 g.43607554C>T - RET_000088 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1573C>G r.(?) p.(Arg525Gly) Parent #2 g.43607597C>G - RET_000062 - - - - DNA SEQ-NG-I 1 BrCa - F Serres Mytilene Greek no - 1 Despoina Kalfakakou
./. - c.1574G>A r.(?) p.(Arg525Gln) Parent #2 g.43607598G>A - RET_000042 - - - - DNA SEQ-NG-I 1 Healthy/Control - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1597G>T r.(?) p.(Gly533Cys) Parent #2 g.43607621G>T - RET_000073 rs75873440 - - - DNA SEQ-NG-I 1 BrainCa - M Piraeus Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.1648+47C>T r.(=) p.(=) Parent #2 g.43607719C>T - RET_000092 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion Sitia Greek no - 1 Despoina Kalfakakou
./. - c.1684A>T r.(?) p.(Thr562Ser) Parent #2 g.43608336A>T - RET_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
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