All 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.

391 entries on 4 pages. Showing entries 1 - 100.
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Effect     

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     
+?/. 15 c.? r.? p.? - likely pathogenic g.? - c.2115G>A (Trp705Ter) - NPHS2_000000 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 13 c.? r.? p.? - pathogenic g.? - c.1787G>A (Arg596Gln) - NPHS2_000000 - 0 - - Germline - - - 0 - LOVD
?/. 16 c.? r.? p.? - VUS g.? - c.2294G>A (Arg765His) - NPHS2_000000 - 0 - rs780724170 Germline - - - 0 - LOVD
-?/. - 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
-/. - c.-45110G>A r.(?) p.(=) - benign g.156785617G>A g.156815825G>A NTRK1(NM_001007792.1):c.-5G>A, SH2D2A(NM_001161441.1):c.123+181C>T, SH2D2A(NM_001161441.2):c.123+181C>T - SH2D2A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-45110G>A r.(?) p.(=) - benign g.156785617G>A g.156815825G>A NTRK1(NM_001007792.1):c.-5G>A, SH2D2A(NM_001161441.1):c.123+181C>T, SH2D2A(NM_001161441.2):c.123+181C>T - SH2D2A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - 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
?/. - 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 - - - 0 - VKGL-NL_AMC
-?/. - 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
?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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 c.-78A>G r.(=) p.(=) - VUS g.156830649A>G g.156860857A>G - - NTRK1_000176 - - - - Germline - - - 0 - Andreas Laner
-/. - c.1501+35GT[15] r.(=) p.(=) - benign g.156845523_156845528del - 129 bp - NTRK1_000074 D1S506 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Miura 2000 - - Germline no 38/106 chromosomes - 0 - Johan den Dunnen
-/. - c.1501+35GT[16] r.(=) p.(=) - benign g.156845525_156845528del - 131 bp - NTRK1_000075 D1S506 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Miura 2000 - - Germline no 9/106 chromosomes - 0 - Johan den Dunnen
-/. - c.1501+35GT[17] r.(=) p.(=) - benign g.156845527_156845528del - 133 bp - NTRK1_000076 D1S506 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Miura 2000 - - Germline no 3/106 chromosomes - 0 - Johan den Dunnen
-/. - c.1501+35GT[18] r.(=) p.(=) - benign g.156845493_156845528= - 135 bp / = - NTRK1_000077 D1S506 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Miura 2000 - - Germline no 4/106 chromosomes - 0 - Johan den Dunnen
-/. - c.1501+35GT[19] r.(=) p.(=) - benign g.156845527_156845528dup - 137 bp - NTRK1_000078 D1S506 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Miura 2000 - - Germline no 40/106 chromosomes - 0 - Johan den Dunnen
-/. - c.1501+35GT[20] r.(=) p.(=) - benign g.156845525_156845528dup - 139 bp - NTRK1_000079 D1S506 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Miura 2000 - - Germline no 12/106 chromosomes - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_AMC
-?/. - c.16C>T r.(?) p.(Arg6Trp) - likely benign g.156830742C>T - NTRK1(NM_002529.3):c.16C>T (p.R6W) - NTRK1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.25C>T r.(?) p.(Gln9Ter) - pathogenic g.156830751C>T g.156860959C>T NTRK1(NM_002529.3):c.25C>T (p.Q9*) - NTRK1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.25C>T r.(?) p.(Gln9*) - pathogenic g.156830751C>T g.156860959C>T 109C>T - NTRK1_000178 - PubMed: Mardy 1999, OMIM:var0005 - - Germline yes - - 0 - Peikuan Cong
-/. 1 c.53G>A r.(?) p.(Gly18Glu) - benign g.156830779G>A g.156860987G>A - - NTRK1_000008 - - - rs1007211 Germline - - - 0 - Andreas Laner
-/. - c.53G>A r.(?) p.(Gly18Glu) - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.53G>A r.(?) p.(Gly18Glu) - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.53G>A r.(?) p.(Gly18Glu) - benign g.156830779G>A g.156860987G>A - - NTRK1_000008 - PubMed: Verpoorten 2005 - rs1007211 Germline no - - 0 - Johan den Dunnen
-?/. - c.53G>A r.(?) p.(Gly18Glu) - 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.117C>T r.(?) p.(Ala39=) - 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 - - - 0 - VKGL-NL_AMC
-?/. - c.117C>T r.(?) p.(Ala39=) - 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
?/. - 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
+/. - c.200del r.(?) p.(Asn67Thrfs*2) - pathogenic g.156830926del g.156861134del 284delA - NTRK1_000205 - PubMed: Mardy 1999 - - Germline yes - - 0 - Peikuan Cong
+/. - c.207_208del r.(?) p.(Glu70Alafs*16) - pathogenic (recessive) g.156830933_156830934del g.156861141_156861142del 207_208deTG - NTRK1_000210 - PubMed: Suriu 2009 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.207_208del r.(?) p.(Glu70Alafs*16) - pathogenic (recessive) g.156830933_156830934del g.156861141_156861142del 207_208deTG - NTRK1_000210 - PubMed: Suriu 2009 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_AMC
-?/. - 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
?/. 1i c.212+59A>C r.(=) p.(=) - VUS g.156830997A>C g.156861205A>C - - NTRK1_000167 - - - - Germline - - - 0 - Andreas Laner
-?/. - 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
?/. - c.236T>A r.(?) p.(Leu79Gln) - VUS g.156834169T>A g.156864377T>A - - NTRK1_000013 - - - rs139140006 Germline - - - 0 - Johan den Dunnen
?/. - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.239A>G r.(?) p.(Gln80Arg) - VUS g.156834172A>G g.156864380A>G - - NTRK1_000006 - - - rs55891455 Germline - - - 0 - Johan den Dunnen
?/. - c.253C>A r.(?) p.(Arg85Ser) - VUS g.156834186C>A g.156864394C>A NTRK1(NM_002529.3):c.253C>A (p.R85S) - NTRK1_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.253C>A r.(?) p.(Arg85Ser) - VUS g.156834186C>A g.156864394C>A 337C>A (Arg85Ser) - NTRK1_000181 - PubMed: Mardy 1999, OMIM:var0006 - - Germline yes - - 0 - Peikuan Cong
?/. - c.254G>A r.(?) p.(Arg85His) - VUS g.156834187G>A g.156864395G>A - - NTRK1_000029 - - - rs79678945 Germline - - - 0 - Johan den Dunnen
?/. - c.265G>A r.(?) p.(Gly89Ser) - VUS g.156834198G>A g.156864406G>A - - NTRK1_000052 - - - rs2274496 Germline - - - 0 - Johan den Dunnen
?/. - c.271G>C r.(?) p.(Gly91Arg) - VUS g.156834204G>C g.156864412G>C - - NTRK1_000056 - - - rs149646444 Germline - - - 0 - Johan den Dunnen
+/. 2 c.274dup r.(?) p.(Glu92Glyfs*81) - pathogenic g.156834207dup g.156864415dup - - NTRK1_000168 - - - - Germline - - - 0 - Andreas Laner
+/. - c.278T>C r.(?) p.(Leu93Pro) - pathogenic g.156834211T>C g.156864419T>C NTRK1(NM_002529.3):c.278T>C (p.L93P) - NTRK1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.278T>C r.(?) p.(Leu93Pro) - pathogenic g.156834211T>C g.156864419T>C 362T>C - NTRK1_000047 not in 64 control chromosomes PubMed: Miura 2000 - - Germline yes - - 0 - Johan den Dunnen
-?/. - 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
+/. - c.287+2dup r.spl p.? - pathogenic g.156834222dup g.156864430dup - - NTRK1_000048 not in 460 control chromosomes PubMed: Lee 2009 - - Germline yes - - 0 - Peikuan Cong
+/. - c.287+2dup r.spl? p.? - pathogenic g.156834222dup g.156864430dup NTRK1(NM_002529.3):c.287+2_287+3insT - NTRK1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.287+7G>T r.(?) p.(=) ACMG VUS g.156834227G>T - - - NTRK1_000244 - - - - Germline - - - 0 - Anju Shukla
+/. - c.287+7G>T r.spl p.(=) ACMG pathogenic g.156834227G>T - - - NTRK1_000244 - - - - Germline - - - 0 - Anju Shukla
-/. 2i c.287+49G>T r.(=) p.(=) - benign g.156834269G>T g.156864477G>T - - NTRK1_000068 - - - rs1800878 Germline - - - 0 - Andreas Laner
-/. - c.287+49G>T r.(=) p.(=) - benign g.156834269G>T g.156864477G>T IVS2+49G/T - NTRK1_000068 - PubMed: Miura 2000 - rs1800878 Germline no 5/106 chromosomes - 0 - Johan den Dunnen
-/. - c.287+49G>T r.(?) p.(=) - benign g.156834269G>T g.156864477G>T - - NTRK1_000068 - PubMed: Verpoorten 2005 - rs1800878 Germline no - - 0 - Johan den Dunnen
-/. - c.287+49G>T r.(=) p.(=) - benign g.156834269G>T g.156864477G>T - - NTRK1_000068 - PubMed: Lipska 2009 - rs1800878 Germline no - - 0 - Johan den Dunnen
-/. - 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 - 0 - Johan den Dunnen
-/. - c.287+144G>A r.(=) p.(=) - benign g.156834364G>A g.156864572G>A - - NTRK1_000086 - PubMed: Verpoorten 2005 - - Germline no - - 0 - Johan den Dunnen
-/. - 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
?/. - 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
-?/. - 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
-?/. - 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
-?/. - 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
?/. - c.326A>G r.(?) p.(Asp109Gly) - VUS g.156834558A>G g.156864766A>G - - NTRK1_000058 - - - rs141592864 Germline - - - 0 - Johan den Dunnen
+?/. - c.329C>A r.(?) p.(Ala110Asp) - likely pathogenic g.156834561C>A g.156864769C>A - - NTRK1_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.354_359+3del r.spl p.? - pathogenic (recessive) g.156834586_156834594del g.156864794_156864802del 354_359+3delGTCGCCTGT - NTRK1_000049 - PubMed: Tuysuz 2008 - - Germline yes - - 0 - Peikuan Cong
+/. - c.354_359+3del r.spl p.? - pathogenic g.156834586_156834594del g.156864794_156864802del 354_359+3delTCGCCTGAA - NTRK1_000049 description delTCGCCTGAA not corect PubMed: Rotthier 2009 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.359+5G>T r.spl? p.? - pathogenic g.156834596G>T g.156864804G>T NTRK1(NM_002529.3):c.359+5G>T - NTRK1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.359+5G>T r.spl? p.? - likely pathogenic g.156834596G>T g.156864804G>T NTRK1(NM_002529.3):c.359+5G>T - NTRK1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.359+5G>T r.[288_359del,213_359del] p.[Thr97_Leu120del,Tyr72_Leu120del] - pathogenic g.156834596G>T g.156864804G>T - - NTRK1_000085 - PubMed: Verpoorten 2005, PubMed: Rotthier 2009 - - Germline yes - - 0 - Peikuan Cong
?/. - 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
+/. - c.391_392del r.(?) p.(Ser131Leufs*41) - pathogenic g.156836733_156836734del g.156866941_156866942del 475-476delTC - NTRK1_000206 not in 64 control chromosomes PubMed: Miura 2000 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.391_392del r.(?) p.(Ser131Leufs*41) - pathogenic g.156836733_156836734del g.156866941_156866942del 475-476delTC - NTRK1_000206 - PubMed: Indo 2001 - - Germline yes - - 0 - Peikuan Cong
+/. 4 c.404_405del r.(?) p.(Val135AlafsTer37) - pathogenic g.156836746_156836747del g.156866954_156866955del c.404_405delTG - NTRK1_000245 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
-/. 4i c.428+12C>A r.(=) p.(=) - benign g.156836782C>A g.156866990C>A - - NTRK1_000096 - PubMed: Lipska 2009 - - Germline no - - 0 - Johan den Dunnen
-/. - c.428+12C>A r.(=) p.(=) - benign g.156836782C>A - NTRK1(NM_002529.3):c.428+12C>A - NTRK1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 4i c.428+47C>T r.(=) p.(=) - benign g.156836817C>T g.156867025C>T - - NTRK1_000097 - PubMed: Lipska 2009 - - Germline no - - 0 - Johan den Dunnen
-/. 4i c.428+68T>C r.(=) p.(=) - benign g.156836838T>C g.156867046T>C - - NTRK1_000170 - - - rs2274497 Germline - - - 0 - Andreas Laner
-/. 4i c.428+197A>G r.(=) p.(=) - benign g.156836967A>G g.156867175A>G - - NTRK1_000171 - - - rs11264577 Germline - - - 0 - Andreas Laner
-/. 4i c.429-49T>C r.(=) p.(=) - benign g.156837847T>C g.156868055T>C - - NTRK1_000172 - - - rs16837724 Germline - - - 0 - Andreas Laner
?/. - c.429-1G>C r.spl? p.? - VUS g.156837895G>C g.156868103G>C NTRK1(NM_002529.3):c.429-1G>C - NTRK1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 4i c.429-1G>C r.spl p.? - pathogenic g.156837895G>C g.156868103G>C IVS4-1G>C - NTRK1_000151 exon skipped in in vitro splicing PubMed: Mardy 1999, OMIM:var0006 - - Germline yes - MvaI- 0 - Peikuan Cong
?/. - c.437C>T r.(?) p.(Ser146Leu) - VUS g.156837904C>T g.156868112C>T - - NTRK1_000134 - - - rs41267427 Germline - 0.002/2 - 0 - Johan den Dunnen
?/. - c.437C>T r.(?) p.(Ser146Leu) - VUS g.156837904C>T - NTRK1(NM_001012331.1):c.437C>T (p.S146L) - NTRK1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.446C>A r.(?) p.(Pro149His) - VUS g.156837913C>A g.156868121C>A - - NTRK1_000119 - - - rs144609655 Germline - - - 0 - Johan den Dunnen
?/. - c.469C>T r.(?) p.(Arg157Cys) - VUS g.156837936C>T g.156868144C>T - - NTRK1_000115 - - - rs141629165 Germline - - - 0 - Johan den Dunnen
?/. - c.470G>A r.(?) p.(Arg157His) - VUS g.156837937G>A g.156868145G>A - - NTRK1_000112 - - - rs141021604 Germline - - - 0 - Johan den Dunnen
?/. - 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 - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.482G>A r.(?) p.(Arg161His) - VUS g.156837949G>A g.156868157G>A NTRK1(NM_002529.3):c.482G>A (p.R161H) - NTRK1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.482G>A r.(?) p.(Arg161His) - benign g.156837949G>A g.156868157G>A - - NTRK1_000098 - PubMed: Lipska 2009 - rs150271893 Germline no - - 0 - Peikuan Cong
+/. - 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 - - - 0 - VKGL-NL_VUmc
+/. - c.490G>T r.(?) p.(Glu164Ter) - pathogenic g.156837957G>T g.156868165G>T NTRK1(NM_002529.3):c.490G>T (p.E164*) - NTRK1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.490G>T r.(?) p.(Glu164*) - pathogenic g.156837957G>T g.156868165G>T 574G>T - NTRK1_000051 not in 64 control chromosomes PubMed: Miura 2000 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.496G>T r.(?) 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.496G>T r.(?) p.(Gly166*) - pathogenic g.156837963G>T g.156868171G>T - - NTRK1_000094 - PubMed: Tuysuz 2008 - - Germline yes - - 0 - Peikuan Cong
-/. - c.505G>A r.(?) p.(Gly169Arg) - benign g.156837972G>A g.156868180G>A - - NTRK1_000099 - PubMed: Lipska 2009 - - Germline no - - 0 - Peikuan Cong
+/. - c.526C>T r.(?) p.(Gln176*) ACMG pathogenic g.156837993C>T g.156868201C>T - - NTRK1_000053 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano
+/. - c.526C>T r.(?) p.(Gln176Ter) - pathogenic g.156837993C>T g.156868201C>T NTRK1(NM_002529.3):c.526C>T (p.Q176*) - NTRK1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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