Unique variants in the RET gene

Information The variants shown are described using the NM_020975.4 transcript reference sequence.

179 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/? 1 ? c.-37G>C r.(?) p.(=) - VUS g.43572670G>C g.43077222G>C - - RET_000023 - Human Mutation humu-2012-0537.R1 (in press) - - Germline - - - - - Man Ting So
?/. 1 - c.47T>C r.(?) p.(Leu16Pro) - VUS g.43572753T>C - RET(NM_020975.6):c.47T>C (p.L16P) - RET_000362 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.56_58del r.(?) p.(Leu19del) - likely benign g.43572762_43572764del g.43077314_43077316del RET(NM_020975.6):c.56_58delTGC (p.L19del) - RET_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.95C>T r.(?) p.(Ser32Leu) - likely pathogenic g.43595928C>T - - - RET_000334 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.135= r.(=) p.(Ala45=) - benign, likely benign g.43595968A>G g.43100520A>G RET(NM_020975.4):c.135A>G (p.A45=), RET(NM_020975.6):c.135A>G (p.A45=) - RET_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/., -?/. 4 - c.166C>A r.(?) p.(Leu56Met) - benign, likely benign g.43595999C>A g.43100551C>A RET(NM_020630.4):c.166C>A (p.(Leu56Met)), RET(NM_020975.6):c.166C>A (p.L56M) - RET_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.196T>A r.(?) p.(Phe66Ile) - VUS g.43596029T>A - RET(NM_020975.6):c.196T>A (p.F66I) - RET_000357 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.200G>A r.(?) p.(Arg67His) - likely benign g.43596033G>A g.43100585G>A RET(NM_020975.6):c.200G>A (p.R67H) - RET_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
+?/. 1 - c.277G>A r.(?) p.(Gly93Ser) - likely pathogenic g.43596110G>A - RET(NM_020975.6):c.277G>A (p.G93S) - RET_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 3 - c.337+9G>A r.(=) p.(=) - benign g.43596179G>A g.43100731G>A RET(NM_020975.4):c.337+9G>A, RET(NM_020975.6):c.337+9G>A - RET_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.341G>A r.(?) p.(Arg114His) - benign g.43597793G>A g.43102345G>A - - RET_000283 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76397662 Germline - 6/2795 individuals - - - Mohammed Faruq
-/. 4 - c.375C>A r.(?) p.(Val125=) - benign g.43597827C>A g.43102379C>A RET(NM_020630.4):c.375C>A (p.(Val125=)), RET(NM_020975.6):c.375C>A (p.V125=) - RET_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.405C>T r.(?) p.(=) - likely benign g.43597857C>T - RET(NM_020630.4):c.405C>T (p.(Gly135=)) - RET_000349 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.448_450del r.(?) p.(Phe150del) - VUS g.43597900_43597902del g.43102452_43102454del RET(NM_020975.6):c.448_450delTTC (p.F150del) - RET_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.468C>T r.(?) p.(=) - likely benign g.43597920C>T - - - RET_000350 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.528T>G r.(?) p.(Ile176Met) - VUS g.43597980T>G - RET(NM_020975.6):c.528T>G (p.I176M) - RET_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.539G>A r.(?) p.(Arg180Gln) - VUS g.43597991G>A g.43102543G>A RET(NM_020975.4):c.539G>A (p.R180Q) - RET_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.549C>T r.(?) p.(Gly183=) - VUS g.43598001C>T - RET(NM_020975.4):c.549C>T (p.G183=) - RET_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.597C>T r.(?) p.(Asn199=) - likely benign g.43598049C>T - RET(NM_020975.4):c.597C>T (p.N199=) - RET_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.625+10G>A r.(=) p.(=) - likely benign g.43598087G>A g.43102639G>A RET(NM_020975.6):c.625+10G>A - RET_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.626-72_626-71del r.(=) p.(=) - VUS g.43600328_43600329del g.43104880_43104881del - - RET_000119 - - - rs66654736 Germline - - - - - Andreas Laner
+?/. 1 - c.626-9G>A r.(=) p.(=) - likely pathogenic g.43600391G>A - - - RET_000317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.692G>A r.(?) p.(Arg231His) - likely pathogenic g.43600466G>A - RET(NM_020975.6):c.692G>A (p.R231H) - RET_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.703G>A r.(?) p.(Glu235Lys) - VUS g.43600477G>A - RET(NM_020975.6):c.703G>A (p.E235K) - RET_000323 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.722C>T r.(?) p.(Ala241Val) - likely benign g.43600496C>T - - - RET_000293 - - - rs1178140696 CLASSIFICATION record - - - - - MobiDetails
-/., -?/. 2 - c.785T>C r.(?) p.(Val262Ala) - benign, likely benign g.43600559T>C g.43105111T>C RET(NM_020975.4):c.785T>C (p.V262A), RET(NM_020975.6):c.785T>C (p.(Val262Ala)) - RET_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 1 - c.807G>A r.(?) p.(Ala269=) - likely benign g.43600581G>A - RET(NM_020975.6):c.807G>A (p.A269=) - RET_000312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/., ?/. 3 - c.833C>A r.(?) p.(Thr278Asn) - benign, likely benign, VUS g.43600607C>A g.43105159C>A RET(NM_020975.4):c.833C>A (p.T278N) - RET_000232 classification based on frequency in 305 unrelated individuals, VKGL data sharing initiative Nederland PubMed: Le 2019 - - CLASSIFICATION record, Germline - frequency 0.014 - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/., ?/. 2 - c.874G>A r.(?) p.(Val292Met) - VUS g.43601830G>A g.43106382G>A - - RET_000284 conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India) PubMed: Jiang 2022, PubMed: Narang 2020, Journal: Narang 2020 - rs34682185 Germline, Germline/De novo (untested) - 7/2794 individuals, >1/309 cases - - - Johan den Dunnen, Mohammed Faruq
?/. 1 - c.907G>A r.(?) p.(Val303Met) - VUS g.43601863G>A - RET(NM_020975.6):c.907G>A (p.V303M) - RET_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.921del r.(?) p.(Glu309Serfs*3) - pathogenic g.43601877del - RET(NM_020975.4):c.921delA (p.E309Sfs*3) - RET_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/? 2 5 c.938G>A r.(?) p.(Arg313Gln) - likely benign, VUS g.43601894G>A g.43106446G>A RET(NM_020975.6):c.938G>A (p.(Arg313Gln)) - RET_000021 VKGL data sharing initiative Nederland Human Mutation humu-2012-0537.R1 (in press) - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Leiden, Man Ting So
+?/. 1 - c.989G>A r.(?) p.(Arg330Gln) - likely pathogenic g.43601945G>A g.43106497G>A RET(NM_020975.6):c.989G>A (p.R330Q) - RET_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1008C>T r.(?) p.(=) - likely benign g.43601964C>T - RET(NM_020975.6):c.1008C>T (p.N336=) - RET_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1017G>A r.(?) p.(Ser339=) - likely benign g.43601973G>A - RET(NM_020975.4):c.1017G>A (p.S339=) - RET_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1030G>A r.(?) p.(Gly344Ser) - likely benign g.43601986G>A g.43106538G>A RET(NM_020975.4):c.1030G>A (p.G344S) - RET_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1042C>T r.(?) p.(Arg348Trp) - likely pathogenic g.43601998C>T - RET(NM_020975.6):c.1042C>T (p.R348W) - RET_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? 1 5i c.1063+9G>A r.(spl?) p.(=) - VUS g.43602028G>A g.43106580G>A - - RET_000024 - Human Mutation humu-2012-0537.R1 (in press) - - Unknown - - - - - Man Ting So
?/. 2 - c.1083C>A r.(?) p.(Asn361Lys) - VUS g.43604498C>A - RET(NM_020975.4):c.1083C>A (p.(Asn361Lys)), RET(NM_020975.6):c.1083C>A (p.N361K) - RET_000313 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.1118C>T r.(?) p.(Ala373Val) - likely benign g.43604533C>T - RET(NM_020975.4):c.1118C>T (p.A373V) - RET_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1182C>T r.(?) p.(=) - likely benign g.43604597C>T - RET(NM_020975.6):c.1182C>T (p.N394=) - RET_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1196C>T r.(?) p.(Pro399Leu) - pathogenic g.43604611C>T - RET(NM_020975.6):c.1196C>T (p.P399L) - RET_000333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 4 - c.1264-5C>T r.spl? p.? - benign g.43606650C>T g.43111202C>T 1 more item - RET_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.1266C>G r.(?) p.(Ile422Met) - VUS g.43606657C>G g.43111209C>G RET(NM_020975.6):c.1266C>G (p.I422M) - RET_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 4 - c.1296A>G r.(?) p.(Ala432=) - benign g.43606687A>G g.43111239A>G RET(NM_020975.4):c.1296A>G (p.A432=), RET(NM_020975.6):c.1296A>G (p.A432=) - RET_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.1372dup r.(1372dup) p.(Ala458GlyfsTer12) - pathogenic g.43606763dup g.43111315dup - - RET_000361 - - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
-/., -?/. 2 - c.1465G>A r.(?) p.(Asp489Asn) - benign, likely benign g.43606856G>A g.43111408G>A RET(NM_020975.4):c.1465G>A (p.D489N), RET(NM_020975.6):c.1465G>A (p.D489N) - RET_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.1514A>T r.(?) p.(Glu505Val) - VUS g.43606905A>T - RET(NM_020975.6):c.1514A>T (p.E505V) - RET_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1522+20A>T r.(=) p.(=) - VUS g.43606933A>T - RET(NM_020630.4):c.1522+20A>T (p.(=)) - RET_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1549C>G r.(?) p.Leu517Val ACMG VUS g.43607573C>G g.43112125C>G - - RET_000260 - - - rs764616982 Germline - - - - - Andreas Laner
?/. 1 - c.1591T>A r.(?) p.(Cys531Ser) - VUS g.43607615T>A - RET(NM_020975.6):c.1591T>A (p.(Cys531Ser)) - RET_000335 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1596C>T r.(?) p.(Gly532=) - likely benign g.43607620C>T g.43112172C>T RET(NM_020975.6):c.1596C>T (p.G532=) - RET_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1597G>A r.(?) p.(Gly533Ser) - VUS g.43607621G>A - RET(NM_020975.6):c.1597G>A (p.G533S) - RET_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1666_1668del r.(?) p.(Ser556del) - VUS g.43608318_43608320del g.43112870_43112872del RET(NM_020975.4):c.1666_1668delTCC (p.S556del) - RET_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., -?/. 2 - c.1699G>A r.(?) p.(Asp567Asn) - likely benign, VUS g.43608351G>A g.43112903G>A RET(NM_020975.4):c.1699G>A (p.D567N) - RET_000287 VKGL data sharing initiative Nederland PubMed: Heidet 2017 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
-?/. 1 - c.1701C>T r.(?) p.(Asp567=) - likely benign g.43608353C>T - RET(NM_020975.6):c.1701C>T (p.D567=) - RET_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1711G>A r.(1711g>a) p.(Asp571Asn) ACMG pathogenic (recessive) g.43608363G>A g.43112915G>A - - RET_000288 - - - rs750958377 Germline yes - - - - A. Arteche-López
?/. 1 - c.1727A>C r.(?) p.(Gln576Pro) - VUS g.43608379A>C g.43112931A>C RET(NM_020975.6):c.1727A>C (p.Q576P) - RET_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.1752C>G r.(?) p.(Asp584Glu) - likely pathogenic g.43608404C>G - RET(NM_020975.6):c.1752C>G (p.D584E) - RET_000319 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1756C>T r.(?) p.(Leu586Phe) - VUS g.43608408C>T - RET(NM_020975.6):c.1756C>T (p.L586F) - RET_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1759C>T r.(?) p.(Arg587Trp) - VUS g.43608411C>T - RET(NM_020975.6):c.1759C>T (p.R587W) - RET_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1759+1G>A r.spl? p.? - pathogenic g.43608412G>A - RET(NM_020975.6):c.1759+1G>A - RET_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1799G>A r.(?) p.(Arg600Gln) - VUS g.43609043G>A - RET(NM_020975.6):c.1799G>A (p.R600Q) - RET_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1814G>T r.(?) p.(Gly605Val) - VUS g.43609058G>T g.43113610G>T RET(NM_020975.6):c.1814G>T (p.G605V) - RET_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., ?/? 2 10 c.1825T>C r.(?) p.(Cys609Arg) - pathogenic, VUS g.43609069T>C g.43113621T>C - - RET_000001 - PubMed: Frank-Raue et al 2011 - - Germline, Unknown - - - - - Andreas Laner
?/? 1 10 c.1825T>G r.(?) p.(Cys609Gly) - VUS g.43609069T>G g.43113621T>G - - RET_000002 - PubMed: Frank-Raue et al 2011 - - Unknown - - - - - LOVD
?/? 1 10 c.1826G>A r.(?) p.(Cys609Tyr) - VUS g.43609070G>A g.43113622G>A - - RET_000003 - PubMed: Frank-Raue et al 2011 - - Unknown - - - - - LOVD
?/? 1 10 c.1826G>C r.(?) p.(Cys609Ser) - VUS g.43609070G>C g.43113622G>C - - RET_000004 - PubMed: Frank-Raue et al 2011 - - Unknown - - - - - LOVD
?/? 1 10 c.1826G>T r.(?) p.(Cys609Phe) - VUS g.43609070G>T g.43113622G>T - - RET_000005 - PubMed: Frank-Raue et al 2011 - - Unknown - - - - - LOVD
+/., ?/? 6 10 c.1832G>A r.(?) p.(Cys611Tyr) ACMG pathogenic, VUS g.43609076G>A g.43113628G>A RET(NM_020975.4):c.1832G>A (p.C611Y) - RET_000006 ACMG grading: PS3,PM2,PM5,PP3, VKGL data sharing initiative Nederland PubMed: Frank-Raue et al 2011, 1 more item - rs377767397 CLASSIFICATION record, Germline, Unknown - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/? 2 10 c.1832G>T r.(?) p.(Cys611Phe) - VUS g.43609076G>T g.43113628G>T - - RET_000008 - PubMed: Frank-Raue et al 2011 - - Unknown - - - - - LOVD
+/. 1 - c.1832_1833delinsAT r.(?) p.(Cys611Tyr) - pathogenic g.43609076_43609077delinsAT - - - RET_000358 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 10 c.1833C>G r.(?) p.(Cys611Trp) - VUS g.43609077C>G g.43113629C>G - - RET_000007 - PubMed: Frank-Raue et al 2011 - - Unknown - - - - - LOVD
+/., ?/? 2 10 c.1852T>A r.(?) p.(Cys618Ser) - pathogenic, VUS g.43609096T>A g.43113648T>A RET(NM_020975.4):c.1852T>A (p.C618S) - RET_000009 VKGL data sharing initiative Nederland PubMed: Frank-Raue et al 2011 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Utrecht
+/., ?/? 2 10 c.1852T>C r.(?) p.(Cys618Arg) - pathogenic, VUS g.43609096T>C g.43113648T>C - - RET_000010 - PubMed: Frank-Raue et al 2011 - - Germline, Unknown - - - - - Andreas Laner
?/? 1 10 c.1852T>G r.(?) p.(Cys618Gly) - VUS g.43609096T>G g.43113648T>G - - RET_000011 - PubMed: Frank-Raue et al 2011 - - Unknown - - - - - LOVD
?/? 1 10 c.1853G>A r.(?) p.(Cys618Tyr) - VUS g.43609097G>A g.43113649G>A - - RET_000013 - PubMed: Frank-Raue et al 2011 - - Unknown - - - - - LOVD
+/., ?/? 4 10 c.1853G>C r.(?) p.(Cys618Ser) - pathogenic, VUS g.43609097G>C g.43113649G>C RET(NM_020975.4):c.1853G>C (p.C618S) - RET_000012 VKGL data sharing initiative Nederland PubMed: Frank-Raue et al 2011 - - CLASSIFICATION record, Germline, Unknown - - - - - Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/? 1 10 c.1853G>T r.(?) p.(Cys618Phe) - VUS g.43609097G>T g.43113649G>T - - RET_000014 - PubMed: Frank-Raue et al 2011 - - Unknown - - - - - LOVD
+/., ?/? 2 10 c.1858T>C r.(?) p.(Cys620Arg) - pathogenic, VUS g.43609102T>C g.43113654T>C RET(NM_020975.4):c.1858T>C (p.C620R) - RET_000015 VKGL data sharing initiative Nederland PubMed: Frank-Raue et al 2011 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Utrecht
?/? 1 10 c.1858T>G r.(?) p.(Cys620Gly) - VUS g.43609102T>G g.43113654T>G - - RET_000016 - PubMed: Frank-Raue et al 2011 - - Unknown - - - - - LOVD
?/? 1 10 c.1859G>A r.(?) p.(Cys620Tyr) - VUS g.43609103G>A g.43113655G>A - - RET_000017 - PubMed: Frank-Raue et al 2011 - - Unknown - - - - - LOVD
?/? 1 10 c.1859G>C r.(?) p.(Cys620Ser) - VUS g.43609103G>C g.43113655G>C - - RET_000018 - PubMed: Frank-Raue et al 2011 - - Unknown - - - - - LOVD
+/., ?/? 4 10 c.1859G>T r.(?) p.(Cys620Phe) - pathogenic, VUS g.43609103G>T g.43113655G>T RET(NM_020975.4):c.1859G>T (p.C620F) - RET_000020 VKGL data sharing initiative Nederland PubMed: Frank-Raue et al 2011 - - CLASSIFICATION record, Germline, Unknown - - - - - Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.1860C>A r.(?) p.(Cys620Ter) - pathogenic g.43609104C>A g.43113656C>A RET(NM_020975.6):c.1860C>A (p.C620*) - RET_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/., ?/? 2 10 c.1860C>G r.(?) p.(Cys620Trp) - VUS g.43609104C>G g.43113656C>G RET(NM_020975.4):c.1860C>G (p.C620W) - RET_000019 VKGL data sharing initiative Nederland PubMed: Frank-Raue et al 2011 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1861G>A r.(?) p.(Glu621Lys) - VUS g.43609105G>A - - - RET_000356 - - - rs1228204486 Unknown - - - - - MobiDetails
?/. 1 - c.1878G>A r.(?) p.(Gln626=) - VUS g.43609122G>A - - - RET_000360 - - - rs147692872 Unknown - - - - - MobiDetails
+/. 1 10i c.1879+1G>T r.spl p.? ACMG pathogenic g.43609124G>T g.43113676G>T - - RET_000322 main disease-related variant PubMed: Stray-Pedersen 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1879+13C>T r.(=) p.(=) - likely benign g.43609136C>T - RET(NM_020975.4):c.1879+13C>T - RET_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1879+17C>T r.(=) p.(=) - likely benign g.43609140C>T - RET(NM_020975.4):c.1879+17C>T - RET_000351 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., +?/. 5 - c.1891G>T r.(?) p.(Asp631Tyr) - likely pathogenic (dominant), pathogenic g.43609939G>T g.43114491G>T - - RET_000110 - PubMed: Kim 2021 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Andreas Laner
-?/. 2 - c.1893C>T r.(?) p.(Asp631=) - likely benign g.43609941C>T g.43114493C>T RET(NM_020975.4):c.1893C>T (p.D631=) - RET_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 2 - c.1894G>A r.(?) p.(Glu632Lys) - VUS g.43609942G>A - RET(NM_020975.6):c.1894G>A (p.(Glu632Lys)) - RET_000336 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/. 1 - c.1900T>A r.(?) p.(Cys634Ser) - pathogenic g.43609948T>A g.43114500T>A - - RET_000112 - - - - Germline - - - - - Andreas Laner
+/. 5 - c.1900T>C r.(?) p.(Cys634Arg) - pathogenic, pathogenic (dominant) g.43609948T>C g.43114500T>C RET(NM_020975.4):c.1900T>C (p.C634R) - RET_000111 VKGL data sharing initiative Nederland PubMed: Kim 2021 - - CLASSIFICATION record, Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.1900T>G r.(?) p.(Cys634Gly) - pathogenic g.43609948T>G g.43114500T>G RET(NM_020975.4):c.1900T>G (p.C634G) - RET_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 6 - c.1901G>A r.(?) p.(Cys634Tyr) - pathogenic, pathogenic (dominant) g.43609949G>A g.43114501G>A RET(NM_020975.4):c.1901G>A (p.C634Y), RET(NM_020975.6):c.1901G>A (p.C634Y) - RET_000114 VKGL data sharing initiative Nederland PubMed: Kim 2021 - - CLASSIFICATION record, Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.1901G>C r.(?) p.(Cys634Ser) - pathogenic g.43609949G>C g.43114501G>C RET(NM_020975.4):c.1901G>C (p.C634S) - RET_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1901G>T r.(?) p.(Cys634Phe) - pathogenic g.43609949G>T g.43114501G>T - - RET_000113 - - - - Germline - - - - - Andreas Laner
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