Unique variants in the NTRK1 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_002529.3 transcript reference sequence.

224 entries on 3 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     
+/., +?/., ?/. 3 13, 15, 16 c.? r.? p.? - likely pathogenic, pathogenic, VUS g.? - c.1787G>A (Arg596Gln), c.2115G>A (Trp705Ter), c.2294G>A (Arg765His) - NPHS2_000000 - 0, PubMed: Ganapathy 2019 - rs780724170 Germline - - - - - Johan den Dunnen
-?/. 1 - c.-45114A>G r.(?) p.(=) - likely benign g.156785613A>G g.156815821A>G NTRK1(NM_001007792.1):c.-9A>G - NTRK1_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.-45110G>A r.(?) p.(=) - benign g.156785617G>A g.156815825G>A 1 more item - SH2D2A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.-45081G>T r.(?) p.(=) - likely benign g.156785646G>T g.156815854G>T NTRK1(NM_001007792.1):c.9+16G>T - NTRK1_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.-18767C>T r.(?) p.(=) - VUS g.156811960C>T g.156842168C>T NTRK1(NM_001007792.1):c.97C>T (p.R33W) - INSRR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-14392C>T r.(?) p.(=) - likely benign g.156816335C>T g.156846543C>T INSRR(NM_014215.3):c.1786G>A (p.V596I) - NTRK1_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-9582G>A r.(?) p.(=) - VUS g.156821145G>A - INSRR(NM_014215.3):c.1166C>T (p.A389V) - NTRK1_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-8972C>T r.(?) p.(=) - likely benign g.156821755C>T g.156851963C>T INSRR(NM_014215.3):c.866G>A (p.R289H) - INSRR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-8895C>T r.(?) p.(=) - likely benign g.156821832C>T g.156852040C>T - - NTRK1_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 _1 c.-78A>G r.(=) p.(=) - VUS g.156830649A>G g.156860857A>G - - NTRK1_000176 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.1501+35GT[15] r.(=) p.(=) - benign g.156845523_156845528del - 129 bp - NTRK1_000074 1 more item PubMed: Miura 2000 - - Germline no 38/106 chromosomes - - - Johan den Dunnen
-/. 1 - c.1501+35GT[16] r.(=) p.(=) - benign g.156845525_156845528del - 131 bp - NTRK1_000075 1 more item PubMed: Miura 2000 - - Germline no 9/106 chromosomes - - - Johan den Dunnen
-/. 1 - c.1501+35GT[17] r.(=) p.(=) - benign g.156845527_156845528del - 133 bp - NTRK1_000076 1 more item PubMed: Miura 2000 - - Germline no 3/106 chromosomes - - - Johan den Dunnen
-/. 1 - c.1501+35GT[18] r.(=) p.(=) - benign g.156845493_156845528= - 135 bp / = - NTRK1_000077 1 more item PubMed: Miura 2000 - - Germline no 4/106 chromosomes - - - Johan den Dunnen
-/. 1 - c.1501+35GT[19] r.(=) p.(=) - benign g.156845527_156845528dup - 137 bp - NTRK1_000078 1 more item PubMed: Miura 2000 - - Germline no 40/106 chromosomes - - - Johan den Dunnen
-/. 1 - c.1501+35GT[20] r.(=) p.(=) - benign g.156845525_156845528dup - 139 bp - NTRK1_000079 1 more item PubMed: Miura 2000 - - Germline no 12/106 chromosomes - - - Johan den Dunnen
-?/. 2 - c.16C>T r.(?) p.(Arg6Trp) - likely benign g.156830742C>T g.156860950C>T NTRK1(NM_002529.3):c.16C>T (p.R6W) - NTRK1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 2 - c.25C>T r.(?) p.(Gln9*), p.(Gln9Ter) - pathogenic g.156830751C>T g.156860959C>T 109C>T, NTRK1(NM_002529.3):c.25C>T (p.Q9*) - NTRK1_000178 VKGL data sharing initiative Nederland PubMed: Mardy 1999, OMIM:var0005 - - CLASSIFICATION record, Germline yes - - - - Peikuan Cong, VKGL-NL_AMC
-/., -?/. 5 1 c.53G>A r.(?) p.(Gly18Glu) - benign, likely benign g.156830779G>A g.156860987G>A NTRK1(NM_001012331.1):c.53G>A (p.(Gly18Glu)), NTRK1(NM_002529.3):c.53G>A (p.G18E) - NTRK1_000008 VKGL data sharing initiative Nederland PubMed: Verpoorten 2005 - rs1007211 CLASSIFICATION record, Germline no - - - - Johan den Dunnen, Andreas Laner, VKGL-NL_Leiden, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 2 - c.117C>T r.(?) p.(Ala39=) - benign, likely benign g.156830843C>T g.156861051C>T NTRK1(NM_002529.3):c.117C>T (p.A39=) - NTRK1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.185T>C r.(?) p.(Leu62Pro) - VUS g.156830911T>C g.156861119T>C NTRK1(NM_002529.3):c.185T>C (p.L62P) - NTRK1_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.200del r.(?) p.(Asn67Thrfs*2) - pathogenic g.156830926del g.156861134del 284delA - NTRK1_000205 - PubMed: Mardy 1999 - - Germline yes - - - - Peikuan Cong
+/. 2 - c.207_208del r.(?) p.(Glu70Alafs*16) - pathogenic (recessive) g.156830933_156830934del g.156861141_156861142del 207_208deTG - NTRK1_000210 - PubMed: Suriu 2009 - - Germline, Germline/De novo (untested) yes - - - - Johan den Dunnen
-?/. 2 - c.212+10C>T r.(=) p.(=) - likely benign g.156830948C>T g.156861156C>T NTRK1(NM_002529.3):c.212+10C>T - NTRK1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 1i c.212+59A>C r.(=) p.(=) - VUS g.156830997A>C g.156861205A>C - - NTRK1_000167 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.219C>T r.(?) p.(Ile73=) - likely benign g.156834152C>T g.156864360C>T NTRK1(NM_002529.3):c.219C>T (p.I73=) - NTRK1_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.236T>A r.(?) p.(Leu79Gln) - VUS g.156834169T>A g.156864377T>A - - NTRK1_000013 - - - rs139140006 Germline - - - - - Johan den Dunnen
?/. 2 - c.239A>G r.(?) p.(Gln80Arg) - VUS g.156834172A>G g.156864380A>G NTRK1(NM_002529.3):c.239A>G (p.Q80R) - NTRK1_000006 VKGL data sharing initiative Nederland - - rs55891455 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
?/. 2 - c.253C>A r.(?) p.(Arg85Ser) - VUS g.156834186C>A g.156864394C>A 337C>A (Arg85Ser), NTRK1(NM_002529.3):c.253C>A (p.R85S) - NTRK1_000181 VKGL data sharing initiative Nederland PubMed: Mardy 1999, OMIM:var0006 - - CLASSIFICATION record, Germline yes - - - - Peikuan Cong, VKGL-NL_AMC
?/. 1 - c.254G>A r.(?) p.(Arg85His) - VUS g.156834187G>A g.156864395G>A - - NTRK1_000029 - - - rs79678945 Germline - - - - - Johan den Dunnen
?/. 1 - c.265G>A r.(?) p.(Gly89Ser) - VUS g.156834198G>A g.156864406G>A - - NTRK1_000052 - - - rs2274496 Germline - - - - - Johan den Dunnen
?/. 1 - c.271G>C r.(?) p.(Gly91Arg) - VUS g.156834204G>C g.156864412G>C - - NTRK1_000056 - - - rs149646444 Germline - - - - - Johan den Dunnen
+/. 1 2 c.274dup r.(?) p.(Glu92Glyfs*81) - pathogenic g.156834207dup g.156864415dup - - NTRK1_000168 - - - - Germline - - - - - Andreas Laner
+/. 2 - c.278T>C r.(?) p.(Leu93Pro) - pathogenic g.156834211T>C g.156864419T>C 362T>C, NTRK1(NM_002529.3):c.278T>C (p.L93P) - NTRK1_000047 not in 64 control chromosomes, VKGL data sharing initiative Nederland PubMed: Miura 2000 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_AMC
-?/. 1 - c.279G>A r.(?) p.(Leu93=) - likely benign g.156834212G>A - NTRK1(NM_002529.3):c.279G>A (p.L93=) - NTRK1_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 - c.287+2dup r.spl, r.spl? p.? - pathogenic g.156834222dup g.156864430dup NTRK1(NM_002529.3):c.287+2_287+3insT - NTRK1_000048 not in 460 control chromosomes, VKGL data sharing initiative Nederland PubMed: Lee 2009 - - CLASSIFICATION record, Germline yes - - - - Peikuan Cong, VKGL-NL_AMC
+/., +?/. 2 - c.287+7G>T r.(?), r.spl p.(=) ACMG pathogenic, VUS g.156834227G>T - - - NTRK1_000244 - - - - Germline - - - - - Anju Shukla
-/. 4 2i c.287+49G>T r.(=), r.(?) p.(=) - benign g.156834269G>T g.156864477G>T IVS2+49G/T - NTRK1_000068 - PubMed: Lipska 2009, PubMed: Miura 2000, PubMed: Verpoorten 2005 - rs1800878 Germline no 5/106 chromosomes - - - Johan den Dunnen, Andreas Laner
-/. 1 - c.287+84G>A r.(=) p.(=) - benign g.156834304G>A g.156864512G>A IVS2+84G/A - NTRK1_000069 - PubMed: Miura 2000 - - Germline no 2/106 chromosomes - - - Johan den Dunnen
-/. 1 - c.287+144G>A r.(=) p.(=) - benign g.156834364G>A g.156864572G>A - - NTRK1_000086 - PubMed: Verpoorten 2005 - - Germline no - - - - Johan den Dunnen
-/. 1 - c.288-8C>T r.(=) p.(=) - benign g.156834512C>T g.156864720C>T NTRK1(NM_002529.3):c.288-8C>T - NTRK1_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.295G>A r.(?) p.(Val99Met) - VUS g.156834527G>A g.156864735G>A NTRK1(NM_002529.3):c.295G>A (p.V99M) - NTRK1_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.315C>T r.(?) p.(Phe105=) - likely benign g.156834547C>T g.156864755C>T NTRK1(NM_002529.3):c.315C>T (p.F105=) - NTRK1_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.321G>C r.(?) p.(Ala107=) - likely benign g.156834553G>C g.156864761G>C NTRK1(NM_002529.3):c.321G>C (p.A107=) - NTRK1_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.321G>T r.(?) p.(Ala107=) - likely benign g.156834553G>T - NTRK1(NM_002529.3):c.321G>T (p.A107=) - NTRK1_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.326A>G r.(?) p.(Asp109Gly) - VUS g.156834558A>G g.156864766A>G - - NTRK1_000058 - - - rs141592864 Germline - - - - - Johan den Dunnen
+?/. 1 - c.329C>A r.(?) p.(Ala110Asp) - likely pathogenic g.156834561C>A g.156864769C>A - - NTRK1_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 - c.354_359+3del r.spl p.? - pathogenic, pathogenic (recessive) g.156834586_156834594del g.156864794_156864802del 354_359+3delGTCGCCTGT, 354_359+3delTCGCCTGAA - NTRK1_000049 description delTCGCCTGAA not corect PubMed: Rotthier 2009, PubMed: Tuysuz 2008 - - Germline yes - - - - Johan den Dunnen, Peikuan Cong
+/., +?/. 3 - c.359+5G>T r.spl?, r.[288_359del,213_359del] p.?, p.[Thr97_Leu120del,Tyr72_Leu120del] - likely pathogenic, pathogenic g.156834596G>T g.156864804G>T NTRK1(NM_002529.3):c.359+5G>T - NTRK1_000085 VKGL data sharing initiative Nederland PubMed: Verpoorten 2005, PubMed: Rotthier 2009 - - CLASSIFICATION record, Germline yes - - - - Peikuan Cong, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.360-4G>A r.spl? p.? - VUS g.156836698G>A g.156866906G>A NTRK1(NM_002529.3):c.360-4G>A - NTRK1_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 - c.391_392del r.(?) p.(Ser131Leufs*41) - pathogenic g.156836733_156836734del g.156866941_156866942del 475-476delTC - NTRK1_000206 not in 64 control chromosomes PubMed: Indo 2001, PubMed: Miura 2000 - - Germline yes - - - - Johan den Dunnen, Peikuan Cong
+/. 1 4 c.404_405del r.(?) p.(Val135AlafsTer37) - pathogenic g.156836746_156836747del g.156866954_156866955del c.404_405delTG - NTRK1_000245 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-/. 2 4i c.428+12C>A r.(=) p.(=) - benign g.156836782C>A g.156866990C>A NTRK1(NM_002529.3):c.428+12C>A - NTRK1_000096 VKGL data sharing initiative Nederland PubMed: Lipska 2009 - - CLASSIFICATION record, Germline no - - - - Johan den Dunnen, VKGL-NL_AMC
-/. 1 4i c.428+47C>T r.(=) p.(=) - benign g.156836817C>T g.156867025C>T - - NTRK1_000097 - PubMed: Lipska 2009 - - Germline no - - - - Johan den Dunnen
-/. 1 4i c.428+68T>C r.(=) p.(=) - benign g.156836838T>C g.156867046T>C - - NTRK1_000170 - - - rs2274497 Germline - - - - - Andreas Laner
-/. 1 4i c.428+197A>G r.(=) p.(=) - benign g.156836967A>G g.156867175A>G - - NTRK1_000171 - - - rs11264577 Germline - - - - - Andreas Laner
-/. 1 4i c.429-49T>C r.(=) p.(=) - benign g.156837847T>C g.156868055T>C - - NTRK1_000172 - - - rs16837724 Germline - - - - - Andreas Laner
+/., ?/. 2 4i c.429-1G>C r.spl, r.spl? p.? - pathogenic, VUS g.156837895G>C g.156868103G>C IVS4-1G>C, NTRK1(NM_002529.3):c.429-1G>C - NTRK1_000151 exon skipped in in vitro splicing, VKGL data sharing initiative Nederland PubMed: Mardy 1999, OMIM:var0006 - - CLASSIFICATION record, Germline yes - MvaI- - - Peikuan Cong, VKGL-NL_AMC
?/. 2 - c.437C>T r.(?) p.(Ser146Leu) - VUS g.156837904C>T g.156868112C>T NTRK1(NM_001012331.1):c.437C>T (p.S146L) - NTRK1_000134 VKGL data sharing initiative Nederland - - rs41267427 CLASSIFICATION record, Germline - 0.002/2 - - - Johan den Dunnen, VKGL-NL_Groningen
?/. 1 - c.446C>A r.(?) p.(Pro149His) - VUS g.156837913C>A g.156868121C>A - - NTRK1_000119 - - - rs144609655 Germline - - - - - Johan den Dunnen
?/. 1 - c.469C>T r.(?) p.(Arg157Cys) - VUS g.156837936C>T g.156868144C>T - - NTRK1_000115 - - - rs141629165 Germline - - - - - Johan den Dunnen
?/. 2 - c.470G>A r.(?) p.(Arg157His) - VUS g.156837937G>A g.156868145G>A NTRK1(NM_002529.3):c.470G>A (p.R157H) - NTRK1_000112 VKGL data sharing initiative Nederland - - rs141021604 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
-/., ?/. 2 - c.482G>A r.(?) p.(Arg161His) - benign, VUS g.156837949G>A g.156868157G>A NTRK1(NM_002529.3):c.482G>A (p.R161H) - NTRK1_000098 VKGL data sharing initiative Nederland PubMed: Lipska 2009 - rs150271893 CLASSIFICATION record, Germline no - - - - Peikuan Cong, VKGL-NL_AMC
+/. 1 - c.485G>A r.(?) p.(Trp162Ter) - pathogenic g.156837952G>A g.156868160G>A NTRK1(NM_002529.3):c.485G>A (p.W162*) - NTRK1_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 2 - c.490G>T r.(?) p.(Glu164*), p.(Glu164Ter) - pathogenic g.156837957G>T g.156868165G>T 574G>T, NTRK1(NM_002529.3):c.490G>T (p.E164*) - NTRK1_000051 not in 64 control chromosomes, VKGL data sharing initiative Nederland PubMed: Miura 2000 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 - c.496G>T r.(?) p.(Gly166*), p.(Gly166Ter) - pathogenic g.156837963G>T g.156868171G>T NTRK1(NM_002529.3):c.496G>T (p.G166*) - NTRK1_000094 VKGL data sharing initiative Nederland PubMed: Tuysuz 2008 - - CLASSIFICATION record, Germline yes - - - - Peikuan Cong, VKGL-NL_AMC
-/. 1 - c.505G>A r.(?) p.(Gly169Arg) - benign g.156837972G>A g.156868180G>A - - NTRK1_000099 - PubMed: Lipska 2009 - - Germline no - - - - Peikuan Cong
+/. 4 - c.526C>T r.(?) p.(Gln176*), p.(Gln176Ter) ACMG pathogenic g.156837993C>T g.156868201C>T 610C>T, NTRK1(NM_002529.3):c.526C>T (p.Q176*) - NTRK1_000053 VKGL data sharing initiative Nederland PubMed: Indo 2001, PubMed: Trujillano 2017 - - CLASSIFICATION record, Germline yes - PstI- - - Peikuan Cong, Daniel Trujillano, VKGL-NL_AMC
+/. 1 - c.543del r.(?) p.(Leu183Trpfs*14) - pathogenic g.156838010del g.156868218del 543delG - NTRK1_000054 - PubMed: Verpoorten 2005, PubMed: Rotthier 2009 - - Germline yes - - - - Peikuan Cong
-?/. 1 - c.549G>T r.(?) p.(Leu183=) - likely benign g.156838016G>T - NTRK1(NM_002529.3):c.549G>T (p.L183=) - NTRK1_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.570C>G r.(?) p.(Ser190Arg) - VUS g.156838037C>G g.156868245C>G - - NTRK1_000108 - - - rs138608619 Germline - - - - - Johan den Dunnen
+/., +?/. 3 5i c.574+1G>A r.(=), r.spl, r.spl? p.(=), p.? - likely pathogenic, pathogenic g.156838042G>A g.156868250G>A IVS5+1G>A, NTRK1(NM_002529.3):c.574+1G>A - NTRK1_000080 VKGL data sharing initiative Nederland PubMed: Bodzioch 2000 - - CLASSIFICATION record, Germline yes - - - - Peikuan Cong, Andreas Laner, VKGL-NL_AMC
+/. 1 5i c.574+1G>C r.420_574del p.? - pathogenic (recessive) g.156838042G>C g.156868250G>C - - NTRK1_000212 - PubMed: Sarasola 2011 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.574+7G>T r.(=) p.(=) - likely benign g.156838048G>T g.156868256G>T NTRK1(NM_001007792.1):c.484+7G>T (p.(=)) - NTRK1_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.574+100T>C r.(=) p.(=) - benign g.156838141T>C g.156868349T>C IVS5+100C/T - NTRK1_000070 - PubMed: Miura 2000, PubMed: Verpoorten 2005 - rs1800879 Germline no 97/106 chromosomes - - - Johan den Dunnen
?/. 1 - c.611C>T r.(?) p.(Ser204Leu) - VUS g.156838333C>T g.156868541C>T - - NTRK1_000125 - - - rs148324672 Germline - - - - - Johan den Dunnen
?/. 1 - c.628G>A r.(?) p.(Asp210Asn) - VUS g.156838350G>A - NTRK1(NM_002529.3):c.628G>A (p.D210N) - NTRK1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.632T>A r.(?) p.(Val211Glu) - likely pathogenic g.156844701_156844702del g.156874909_156874910del NTRK1(NM_002529.3):c.632T>A(p.V211E)/c.1253_1254delTC(p.S419Gfs*80) - NTRK1_000248 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 159 - - - LOVD
+/. 3 - c.638T>C r.(?) p.(Leu213Pro) - pathogenic g.156838360T>C g.156868568T>C 722T>C, NTRK1(NM_002529.3):c.638T>C (p.L213P) - NTRK1_000183 VKGL data sharing initiative Nederland PubMed: Bonkowsky 2001, PubMed: Mardy 1999 - - CLASSIFICATION record, Germline yes - - - - Peikuan Cong, VKGL-NL_AMC
-?/., ?/. 2 - c.710C>T r.(?) p.(Thr237Met) - likely benign, VUS g.156838432C>T g.156868640C>T NTRK1(NM_002529.3):c.710C>T (p.T237M) - NTRK1_000141 VKGL data sharing initiative Nederland - - rs55909005 CLASSIFICATION record, Germline - 0.011/8 - - - Johan den Dunnen, VKGL-NL_AMC
-?/. 1 - c.711G>A r.(?) p.(Thr237=) - likely benign g.156838433G>A - NTRK1(NM_002529.3):c.711G>A (p.T237=) - NTRK1_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.713T>G r.(?) p.(Val238Gly) - VUS g.156838435T>G g.156868643T>G - - NTRK1_000143 - - - rs56000394 Germline - - - - - Johan den Dunnen
+/. 2 - c.717+1G>C r.spl, r.spl? p.? - pathogenic g.156838440G>C g.156868648G>C IVS6+1G>C, NTRK1(NM_002529.3):c.717+1G>C - NTRK1_000084 VKGL data sharing initiative Nederland PubMed: Indo 2001 - - CLASSIFICATION record, Germline yes - - - - Peikuan Cong, VKGL-NL_AMC
-/. 1 6i c.717+31A>G r.(=) p.(=) - benign g.156838470A>G g.156868678A>G - - NTRK1_000100 - PubMed: Lipska 2009 - - Germline no - - - - Johan den Dunnen
+/. 2 - c.722dup r.(?) p.(Gly242Trpfs*16), p.(Gly242TrpfsTer16) - pathogenic g.156841419dup g.156871627dup 722_723insC, NTRK1(NM_002529.3):c.722dupC (p.G242Wfs*16) - NTRK1_000090 VKGL data sharing initiative Nederland PubMed: Huehne 2008 - - CLASSIFICATION record, Germline yes - - - - Peikuan Cong, VKGL-NL_AMC
?/. 1 - c.778A>G r.(?) p.(Arg260Gly) - VUS g.156841475A>G g.156871683A>G - - NTRK1_000133 - - - rs35116695 Germline - - - - - Johan den Dunnen
?/. 1 - c.808G>A r.(?) p.(Asp270Asn) - VUS g.156841505G>A g.156871713G>A - - NTRK1_000123 - - - rs145222195 Germline - - - - - Johan den Dunnen
?/. 1 - c.817C>T r.(?) p.(Arg273Trp) - VUS g.156841514C>T g.156871722C>T - - NTRK1_000130 - - - rs151334385 Germline - - - - - Johan den Dunnen
?/. 1 - c.824A>C r.(?) p.(Glu275Ala) - VUS g.156841521A>C g.156871729A>C - - NTRK1_000107 - - - rs138533001 Germline - - - - - Johan den Dunnen
?/. 1 - c.829T>G r.(?) p.(Ser277Ala) - VUS g.156841526T>G g.156871734T>G NTRK1(NM_002529.3):c.829T>G (p.S277A) - NTRK1_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 7i c.850+1G>A r.spl, r.spl? p.? - pathogenic g.156841548G>A g.156871756G>A IVS7+1G>A, NTRK1(NM_002529.3):c.850+1G>A - NTRK1_000184 exon skipped in in vitro splicing and activated site c.429-41, VKGL data sharing initiative Nederland PubMed: Mardy 1999 - - CLASSIFICATION record, Germline yes - - - - Peikuan Cong, VKGL-NL_AMC
-/. 1 7i c.850+127G>A r.(=) p.(=) - benign g.156841674G>A g.156871882G>A - - NTRK1_000173 - - - rs1410082 Germline - - - - - Andreas Laner
+/., +?/. 10 7i c.851-33T>A r.(=), r.(?), r.spl p.(=), p.(?) - likely pathogenic, pathogenic g.156843392T>A g.156873600T>A 935-33T>A, NTRK1(NM_002529.3):c.851-33T>A, 1 more item - NTRK1_000067 not in 64 control chromosomes; in vitro exon trap shows r.850_851ins851-137_851-1{851-33t>a}, 1 more item PubMed: Lee 2009, PubMed: Miura 2000, OMIM:var0007, PubMed: Sun 2018 - - CLASSIFICATION record, Germline, Germline/De novo (untested) ?, yes 245 - - - Johan den Dunnen, Peikuan Cong, VKGL-NL_AMC
?/. 1 7i c.851-2A>G r.(=) p.(=) - VUS g.156843423A>G g.156873631A>G - - NTRK1_000174 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.854C>T r.(?) p.(Pro285Leu) - VUS g.156843428C>T g.156873636C>T - - NTRK1_000114 - - - rs141483265 Germline - - - - - Johan den Dunnen
-?/., ?/. 4 - c.865C>A r.(?) p.(Gln289Lys) - likely benign, VUS g.156843439C>A g.156873647C>A NTRK1(NM_002529.3):c.865C>A (p.Q289K) - NTRK1_000104 VKGL data sharing initiative Nederland - - rs137979116 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.875C>T r.(?) p.(Thr292Met) - likely benign g.156843449C>T g.156873657C>T NTRK1(NM_002529.3):c.875C>T (p.T292M) - NTRK1_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.924_930del r.(?) p.(Gln308Hisfs*160) - pathogenic g.156843498_156843504del g.156873706_156873712del 1008_1014delGCCGGCA - NTRK1_000057 - PubMed: Mardy 1999 - - Germline yes - - - - Peikuan Cong
?/. 2 - c.940C>T r.(?) p.(Arg314Cys) - VUS g.156843514C>T g.156873722C>T - - NTRK1_000105 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137994522 Germline - 5/2790 individuals - - - Johan den Dunnen, Mohammed Faruq
?/. 1 - c.953A>G r.(?) p.(Asn318Ser) - VUS g.156843527A>G g.156873735A>G NTRK1(NM_001007792.1):c.863A>G (p.(Asn288Ser)) - NTRK1_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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