Unique variants in the TTN gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
TTN exon inclusion table.
Information The variants shown are described using the transcript reference sequence.

6554 entries on 66 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 18 c.(2927_2928)G>A r.(=) p.(Trp976Arg) - likely benign g.(179647705_179647706)C>T - - - TTN_000000 1 more item PubMed: Herman 2012 - - Germline - - - - - Johan den Dunnen
?/. 1 ? c.? r.? p.? - VUS g.? - - - TTN_000000 - - - - Unknown - - - - - Johan den Dunnen
+?/., ?/. 25 275, 311 c.? r.(?), r.? p.(?), p.?, p.A20503T, p.A31667T, p.D4272Y, p.D5004G, p.E16358X, p.F260981, p.G4492D, p.I14677T, 13 more items - likely pathogenic, VUS g.179438175dup, g.? g.178573448dup 102537_102540dupAGTC, 12818G>T (D4272Y), 13475G>A (G4492D), 15011A>G (D5004G), 21 more items - SNRNP200_000007, TTN_000000 no second variant 0, PubMed: Ganapathy 2019, PubMed: Nallamilli 2018 ClinVar-RCV000642697.1 - Germline - - - - - Johan den Dunnen, Madhuri Hegde
-?/. 1 - c.-14+5G>C r.(?) p.(=) - likely benign g.179671934C>G g.178807207C>G - - TTN_006076 - - - - Germline/De novo (untested) - - - - - Mireille Cossee
-/. 1 43i c.10115-1712_10115-1677AC[16_18] r.(=) p.(=) - benign g.179625576_179625611GT[16_18] - 10115AC(16_18) - TTN_000525 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 93i c.26762-39_26762-10TTTGT[5_9] r.(=) p.(=) - benign g.179578109_179578138ACAAA[5_9] - - - TTN_000017 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 111i c.30598+153_30599-162A[11_12] r.(=) p.(=) - benign g.179566092_179566102T[11_12] - - - TTN_000018 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 128i c.32312-540_32312-516A[22_25] r.(=) p.(=) - benign g.179550841_179550865T[22_25] - 32354-540A(22_25) - TTN_000526 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 147i c.34292-74_34292-49AT[13_16] r.(=) p.(=) - benign g.179542063_179542088TA[13_16] - 34333+260AT(13_16) - TTN_000527 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 216i c.40222+3TA[11_15] r.(=) p.(=) - benign g.179511788TA[11_15] g.178647061TA[11_15] - - TTN_000000 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 217i c.40298-116TA[21_23] r.(=) p.(=) - benign g.179510873TA[21_23] g.178646146TA[21_23] - - TTN_006068 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 225i c.40927+179AT[22_26] r.(=) p.(=) - benign g.179501917AT[22_26] g.178637190AT[22_26] - - TTN_006069 sequence comparison - - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.64473T>R r.(?) p.(Tyr21491*) - likely pathogenic g.179449998A>Y - Q8WZ42-11:Y18923* - TTN_003881 - PubMed: Marston 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.26C>T r.(?) p.(Thr9Met) - VUS g.179669344G>A g.178804617G>A TTN(NM_001267550.1):c.26C>T (p.T9M) - TTN_005873 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.33G>A r.(?) p.(Pro11=) - benign, likely benign g.179669337C>T g.178804610C>T TTN(NM_001267550.1):c.33G>A (p.P11=) - TTN_003556 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.43G>A r.(?) p.(Val15Ile) - VUS g.179669327C>T g.178804600C>T NM_133378.4:c.43G>A - TTN_003880 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.46G>A r.(?) p.(Val16Met) - VUS g.179669324C>T - TTN(NM_001267550.1):c.46G>A (p.V16M) - TTN_006793 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.66C>T r.(?) p.(Thr22=) - likely benign g.179669304G>A g.178804577G>A TTN(NM_001267550.1):c.66C>T (p.T22=) - TTN_005413 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.71C>G r.(?) p.(Thr24Ser) - VUS g.179669299G>C - - - TTN_006261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.71C>T r.(?) p.(Thr24Ile) - VUS g.179669299G>A g.178804572G>A TTN(NM_001267550.1):c.71C>T (p.T24I) - TTN_005412 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 2i c.91+5G>A r.(spl?) p.(?) - VUS g.179669274C>T g.178804547C>T IVS2+5G>A - TTN_000120 - PubMed: Greenman 2007 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.92-21T>C r.(=) p.(=) - benign g.179667089A>G g.178802362A>G TTN(NM_001267550.1):c.92-21T>C - TTN_003555 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.156C>G r.(?) p.(Pro52=) - benign g.179667004G>C g.178802277G>C TTN(NM_001267550.1):c.156C>G (p.P52=) - TTN_005411 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., ?/. 2 - c.156C>T r.(?) p.(=), p.(Pro52=) - benign, VUS g.179667004G>A g.178802277G>A 156C>T (P52=), TTN(NM_001267550.1):c.156C>T (p.P52=) - TTN_003554 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_AMC
+/., +?/. 2 3 c.160G>A r.(?) p.(Val54Met), p.Val54Met - NA, pathogenic g.179667000C>T g.178802273C>T G>A Val54Met - TTN_000008 expression cloning, Y2H 0.40 reduced TCAP binding, 1 more item PubMed: Itoh-Satoh 2002, PubMed: Itoh-Satoh 2002, OMIM:var0008 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
?/. 4 - c.177C>A r.(?) p.(Ser59Arg) - VUS g.179666983G>T g.178802256G>T 177C>A (S59R), TTN(NM_001267550.1):c.177C>A (p.S59R) - TTN_003879 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.177C>T r.(?) p.(Ser59=) - likely benign g.179666983G>A g.178802256G>A - - TTN_005410 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 7 3 c.178G>T r.(?) p.(Asp60Tyr) - benign, likely benign g.179666982C>A g.178802255C>A 1 more item - TTN_000447 73 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Greenman 2007, PubMed: Narang 2020, Journal: Narang 2020 - rs35683768 CLASSIFICATION record, Germline - 73/2795 individuals - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
-?/. 1 - c.180T>C r.(?) p.(Asp60=) - likely benign g.179666980A>G g.178802253A>G TTN(NM_001267550.1):c.180T>C (p.D60=) - TTN_003553 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.186C>T r.(?) p.(=) - VUS g.179666974G>A g.178802247G>A 186C>T (R62R) - TTN_003878 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.187G>A r.(?) p.(Ala63Thr) - VUS g.179666973C>T g.178802246C>T - - TTN_006079 - PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.197C>T r.(?) p.(Thr66Met) - likely benign g.179666963G>A g.178802236G>A - - TTN_005872 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.198G>A r.(?) p.(Thr66=) - benign g.179666962C>T - TTN(NM_001267550.1):c.198G>A (p.T66=) - TTN_006792 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.204C>T r.(?) p.(Pro68=) - VUS g.179666956G>A g.178802229G>A TTN(NM_001256850.1):c.204C>T (p.(=)) - TTN_005409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.227G>C r.(?) p.(Gly76Ala) - likely benign g.179666933C>G g.178802206C>G - - TTN_005408 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.230G>A r.(?) p.(Arg77Gln) - VUS g.179666930C>T g.178802203C>T TTN(NM_001267550.1):c.230G>A (p.R77Q) - TTN_005407 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.245C>A r.(?) p.(Ala82Asp) - VUS g.179666915G>T g.178802188G>T - - TTN_003586 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.261del r.(?) p.(Gln88LysfsTer10) - VUS g.179666899del - TTN(NM_001267550.1):c.261delA (p.Q88Kfs*10) - TTN_003552 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 - c.266C>G r.(?) p.(Ala89Gly) - VUS g.179666894G>C g.178802167G>C TTN(NM_001267550.1):c.266C>G (p.A89G) - TTN_005406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.289G>A r.(?) p.(Val97Met) - VUS g.179666871C>T g.178802144C>T TTN(NM_001267550.1):c.289G>A (p.V97M) - TTN_003551 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.295+12G>A r.(=) p.(=) - benign g.179666853C>T g.178802126C>T TTN(NM_001267550.1):c.295+12G>A - TTN_005871 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/., ?/? 6 3i c.296-14T>C r.(=), r.(?) p.(=) - benign, likely benign, VUS g.179665423A>G g.178800696A>G TTN(NM_001267550.1):c.296-14T>C, TTN(NM_133432.3):c.296-14T>C - TTN_000632 VKGL data sharing initiative Nederland PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - CLASSIFICATION record, Unknown ? - - - - Terry Vrijenhoek, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.314A>C r.(?) p.(Asn105Thr) - VUS g.179665391T>G g.178800664T>G TTN(NM_001267550.1):c.314A>C (p.N105T) - TTN_005405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 4 c.325C>T r.(?) p.(Arg109*) - likely pathogenic g.179665380G>A g.178800653G>A - - TTN_000716 - PubMed: Roberts 2015, Journal: Roberts 2015 - - Germline - 1/667 controls - - - Johan den Dunnen
?/. 3 4 c.343G>A r.(?) p.(Val115Met) - VUS g.179665362C>T g.178800635C>T NM_003319.4:343G>A (V115M), 1 more item - TTN_000134 VKGL data sharing initiative Nederland PubMed: Greenman 2007 - - CLASSIFICATION record, Somatic - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.415C>T r.(?) p.(Arg139Trp) - VUS g.179665290G>A g.178800563G>A - - TTN_005870 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/., ?/. 5 4 c.426C>T r.(?) p.(=), p.(Ala142=) - benign, likely benign, VUS g.179665279G>A g.178800552G>A NM_003319.4:426C>T (A142A), TTN(NM_001267550.1):c.426C>T (p.A142=) - TTN_000232 VKGL data sharing initiative Nederland PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 2 - c.437G>A r.(?) p.(Ser146Asn) - VUS g.179665268C>T g.178800541C>T TTN(NM_001267550.1):c.437G>A (p.S146N) - TTN_003550 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.468C>T r.(?) p.(Gly156=) - benign g.179665237G>A - TTN(NM_001267550.1):c.468C>T (p.G156=) - TTN_006584 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.516G>A r.(?) p.(Gly172=) - likely benign g.179665189C>T g.178800462C>T TTN(NM_001267550.1):c.516G>A (p.G172=) - TTN_003549 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.542G>A r.(?) p.(Ser181Asn) - benign, likely benign g.179665163C>T g.178800436C>T TTN(NM_001267550.1):c.542G>A (p.S181N) - TTN_003548 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.560C>T r.(?) p.(Ser187Leu) - VUS g.179665145G>A g.178800418G>A TTN(NM_001267550.1):c.560C>T (p.S187L) - TTN_006045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.583+5G>A r.spl? p.? - likely benign g.179665117C>T g.178800390C>T TTN(NM_001256850.1):c.583+5G>A (p.(=)) - TTN_005404 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
-/. 1 - c.583+15T>C r.(=) p.(=) - benign g.179665107A>G g.178800380A>G TTN(NM_001267550.1):c.583+15T>C - TTN_003547 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.583+17G>C r.(=) p.(=) - likely benign g.179665105C>G g.178800378C>G TTN(NM_001267550.1):c.583+17G>C - TTN_003546 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.593_595del r.(?) p.(Glu198del) - VUS g.179664633_179664635del g.178799906_178799908del TTN(NM_001256850.1):c.593_595del (p.?), TTN(NM_001267550.1):c.593_595delAAG (p.E198del) - TTN_003545 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.617C>A r.(?) p.(Thr206Lys) - VUS g.179664604G>T g.178799877G>T TTN(NM_001267550.1):c.617C>A (p.T206K) - TTN_003544 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.626C>T r.(?) p.(Ser209Leu) - VUS g.179664595G>A - TTN(NM_001267550.1):c.626C>T (p.S209L) - TTN_006791 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.627G>A r.(?) p.(Ser209=) - likely benign g.179664594C>T - TTN(NM_133432.3):c.627G>A (p.S209=) - TTN_006260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.654A>G r.(?) p.(Gln218=) - benign g.179664567T>C g.178799840T>C TTN(NM_001267550.1):c.654A>G (p.Q218=) - TTN_003543 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.654_655delinsG r.(?) p.(Thr219ProfsTer23) - likely pathogenic g.179664566_179664567delinsC g.178799839_178799840delinsC TTN(NM_001267550.1):c.654_655delAAinsG (p.T219Pfs*23) - TTN_003542 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.659G>A r.(?) p.(Arg220Gln) - VUS g.179664562C>T g.178799835C>T TTN(NM_001267550.1):c.659G>A (p.R220Q) - TTN_003541 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.669+17T>C r.(=) p.(=) - benign g.179664535A>G g.178799808A>G TTN(NM_001267550.1):c.669+17T>C - TTN_005869 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.680C>T r.(?) p.(Ala227Val) - VUS g.179664448G>A g.178799721G>A TTN(NM_001267550.1):c.680C>T (p.A227V) - TTN_003540 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.687T>C r.(?) p.(Phe229=) - likely benign g.179664441A>G g.178799714A>G TTN(NM_001267550.1):c.687T>C (p.F229=), TTN(NM_133432.3):c.687T>C (p.F229=) - TTN_003539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/., ?/. 2 - c.687T>G r.(?) p.(Phe229Leu) - likely benign, VUS g.179664441A>C g.178799714A>C TTN(NM_001267550.1):c.687T>G (p.F229L) - TTN_005403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 2 - c.732C>T r.(?) p.(Ala244=) - likely benign g.179664396G>A g.178799669G>A TTN(NM_001267550.1):c.732C>T (p.A244=) - TTN_005868 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.752A>G r.(?) p.(His251Arg) - VUS g.179664376T>C g.178799649T>C TTN(NM_001256850.1):c.752A>G (p.(His251Arg)) - TTN_003538 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 6 c.755A>G r.(?) p.(Lys252Arg) - VUS g.179664373T>C g.178799646T>C NM_003319:c.A755G - TTN_000782 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - Johan den Dunnen
?/. 1 6 c.765_776del r.(?) p.(Arg256_Pro259del) - VUS g.179664357_179664368del g.178799630_178799641del NM_003319.4:765_776delCAGGATTCCTCC (R256_K260K) - TTN_000202 - PubMed: Greenman 2007 - - Somatic - - - - - Johan den Dunnen
?/., ?/? 2 6 c.776C>T r.(?) p.(Pro259Leu) - VUS g.179664352G>A g.178799625G>A TTN(NM_001267550.1):c.776C>T (p.P259L) - TTN_000631 VKGL data sharing initiative Nederland PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - CLASSIFICATION record, Unknown ? - - - - Terry Vrijenhoek, VKGL-NL_Rotterdam
-?/. 1 - c.777G>A r.(?) p.(Pro259=) - likely benign g.179664351C>T g.178799624C>T TTN(NM_001267550.1):c.777G>A (p.P259=) - TTN_003537 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/-?, ?/. 4 6 c.835C>T r.(?) p.(Arg279Trp) - VUS g.179664293G>A g.178799566G>A TTN(NM_001267550.1):c.835C>T (p.R279W) - TTN_000594 VKGL data sharing initiative Nederland PubMed: van Spaendonck-Zwarts 2014 - - CLASSIFICATION record, Germline yes - - - - Claire Chauveau, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.849A>G r.(?) p.(Pro283=) - likely benign g.179664279T>C - TTN(NM_001267550.1):c.849A>G (p.P283=) - TTN_006259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.914+1G>C r.spl p.? - likely pathogenic g.179664213C>G g.178799486C>G - - TTN_006060 - - - - Germline - - - - - Marco Savarese
-?/., ?/. 2 - c.919G>A r.(?) p.(Val307Met) - likely benign, VUS g.179659975C>T g.178795248C>T TTN(NM_001267550.1):c.919G>A (p.V307M) - TTN_005401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.947C>A r.(?) p.(Ser316Tyr) - VUS g.179659947G>T g.178795220G>T TTN(NM_001267550.1):c.947C>A (p.S316Y) - TTN_005400 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.947C>G r.(?) p.(Ser316Cys) - VUS g.179659947G>C g.178795220G>C TTN(NM_001267550.1):c.947C>G (p.S316C) - TTN_005867 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.966G>T r.(?) p.(Arg322Ser) - likely benign g.179659928C>A g.178795201C>A - - TTN_005866 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.970C>T r.(?) p.(Pro324Ser) - benign g.179659924G>A g.178795197G>A TTN(NM_001267550.1):c.970C>T (p.P324S) - TTN_003535 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 4 7 c.982C>T r.(?) p.(Arg328Cys) - benign g.179659912G>A g.178795185G>A TTN(NM_001267550.1):c.982C>T (p.R328C) - TTN_000029 in cases and controls, VKGL data sharing initiative Nederland PubMed: Greenman 2007, PubMed: Itoh-Satoh 2002 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 2 - c.983G>A r.(?) p.(Arg328His) - VUS g.179659911C>T g.178795184C>T TTN(NM_001267550.1):c.983G>A (p.R328H) - TTN_005399 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.997T>A r.(?) p.(Ser333Thr) - VUS g.179659897A>T g.178795170A>T TTN(NM_001267550.1):c.997T>A (p.S333T) - TTN_003534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1002C>T r.(?) p.(Thr334=) - likely benign g.179659892G>A g.178795165G>A TTN(NM_001267550.1):c.1002C>T (p.T334=) - TTN_005398 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.1003G>A r.(?) p.(Val335Met) - benign g.179659891C>T g.178795164C>T TTN(NM_001267550.1):c.1003G>A (p.V335M) - TTN_003533 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1008C>T r.(?) p.(Ala336=) - likely benign g.179659886G>A g.178795159G>A - - TTN_005865 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 4 - c.1050C>T r.(?) p.(Tyr350=) - benign, likely benign g.179659844G>A g.178795117G>A TTN(NM_001267550.1):c.1050C>T (p.Y350=), TTN(NM_133432.3):c.1050C>T (p.Y350=) - TTN_003532 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 2 - c.1068G>A r.(?) p.(Glu356=) - benign, likely benign g.179659826C>T g.178795099C>T TTN(NM_001267550.1):c.1068G>A (p.E356=) - TTN_003531 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/., ?/. 8 7 c.1079G>C r.(?) p.(Arg360Thr) - benign, likely benign, VUS g.179659815C>G g.178795088C>G NM_003319.4:1079G>C (R360T), 1 more item - TTN_000248 1 homozygous; Clinindb (India), 92 heterozygous; Clinindb (India), 1 more item PubMed: Greenman 2007, PubMed: Narang 2020, Journal: Narang 2020 - rs56128843 CLASSIFICATION record, Germline - 1/2789 individuals, 92/2789 individuals - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
-/., -?/. 3 - c.1089G>A r.(?) p.(Thr363=) - benign, likely benign g.179659805C>T g.178795078C>T TTN(NM_001267550.1):c.1089G>A (p.T363=) - TTN_003530 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
-?/., ?/. 3 - c.1099T>C r.(?) p.(Ser367Pro) - likely benign, VUS g.179659795A>G g.178795068A>G TTN(NM_001267550.1):c.1099T>C (p.S367P), TTN(NM_133432.3):c.1099T>C (p.S367P) - TTN_003529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.1109T>A r.(?) p.(Ile370Asn) - VUS g.179659785A>T g.178795058A>T - - TTN_005397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1136G>C r.(?) p.(Arg379Thr) - VUS g.179659758C>G g.178795031C>G TTN(NM_001267550.1):c.1136G>C (p.R379T) - TTN_006044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/., ?/. 5 7 c.1137A>G r.(?) p.(=), p.(Arg379=) - benign, likely benign, VUS g.179659757T>C g.178795030T>C NM_003319.4:1137A>G (R379R), TTN(NM_001267550.1):c.1137A>G (p.R379=) - TTN_000230 VKGL data sharing initiative Nederland PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.1161C>T r.(?) p.(Thr387=) - likely benign g.179659733G>A g.178795006G>A - - TTN_005396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.1168G>A r.(?) p.(Gly390Ser) - VUS g.179659726C>T g.178794999C>T TTN(NM_001267550.1):c.1168G>A (p.G390S), TTN(NM_133432.3):c.1168G>A (p.G390S) - TTN_003528 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.1173T>C r.(?) p.(Ala391=) - likely benign g.179659721A>G g.178794994A>G TTN(NM_133432.3):c.1173T>C (p.A391=) - TTN_005395 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1182T>G r.(?) p.(Ala394=) - likely benign g.179659712A>C g.178794985A>C TTN(NM_001267550.1):c.1182T>G (p.A394=) - TTN_006043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1182_1185inv r.(?) p.(=) - VUS g.179659709_179659712inv g.178794982_178794985inv TTN(NM_001267550.1):c.1182_1185delTGCCinsGGCA (p.A394_A395=) - TTN_003527 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1185C>A r.(?) p.(Ala395=) - likely benign g.179659709G>T g.178794982G>T TTN(NM_001267550.1):c.1185C>A (p.A395=) - TTN_006042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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