Unique variants in gene TTN

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.

3601 entries on 37 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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) g.(179647705_179647706)C>T - - - TTN_000000 - PubMed: Herman 2012 - - Germline - - - - - Johan den Dunnen
-/. 1 43i c.10115-1712AC[(16_18)] - r.(?) p.(=) g.179625611GT([16_18)] - 10115AC(16_18) - TTN_000525 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 61i c.17740+64A[(10_11)] - r.(=) p.(=) g.179595588T[(10_11)] - 17740+64A(10_11) - TTN_000016 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 93i c.26762-40TTTTG[(5_9)] - r.(=) p.(=) g.delCAAAA[(5_9)] - - - TTN_000017 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 111i c.30598+153A[(11_12)] - r.(=) p.(=) g.179566102T[(11_12)] - - - TTN_000018 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 128i c.32312-540A[(22_25)] - r.(=) p.(=) g.179550865T[(22_25)] - 32354-540A(22_25) - TTN_000526 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 20i c.3380+283AC[(12_13)] - r.(=) p.(=) g.179646656GT[(12_13)] - - - TTN_000013 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 147i c.34292-74AT[(13_16)] - r.(=) p.(=) g.179542088TA[(13_16)] - 34333+260AT(13_16) - TTN_000527 sequence comparison - - - Germline - - - - - Johan den Dunnen
-/. 1 37i c.8902+14TA[(8_9)] - r.(=) p.(=) g.179634392TA[(8_9)] - - - TTN_000014 sequence comparison - - - Germline - - - - - Johan den Dunnen
?/. 1 ? c.? - r.? p.? g.? - - - TTN_000000 - - - - Unknown - - - - - Johan den Dunnen
-/., -?/. 2 - c.33G>A benign, likely benign r.(=) p.(=) g.179669337C>T - TTN:c.33G>A (=) - TTN_003556 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
?/. 1 2i c.91+5G>A - r.(spl?) p.(?) g.179669274C>T g.178804547C>T IVS2+5G>A - TTN_000120 - PubMed: Greenman 2007 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.92-21T>C benign r.(=) p.(=) g.179667089A>G - TTN:c.92-21T>C - TTN_003555 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.156C>T benign r.(=) p.(=) g.179667004G>A - TTN:c.156C>T (=) - TTN_003554 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/., +/. 2 3 c.160G>A - -, r.(?) p.Val54Met, p.(Val54Met) 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 - - In vitro (cloned), Germline - - - - - Johan den Dunnen
-/., -?/. 4 3 c.178G>T benign r.(?) p.(Asp60Tyr) g.179666982C>A g.178802255C>A TTN:c.178G>T (D60Y) - TTN_000447 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, Johan den Dunnen, VKGL-NL_Utrecht
-?/. 2 - c.180T>C likely benign r.(=) p.(=) g.179666980A>G - TTN:NM_001256850.1:c.180T>C, NM_001267550.1:c.180T>C, …, TTN:c.180T>C (=) - TTN_003553 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.245C>A VUS r.(?) p.(Ala82Asp) g.179666915G>T - TTN:NM_133378.4:c.245C>A (Ala82Asp) - TTN_003586 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.261del VUS r.(?) p.(Gln88Lysfs*10) g.179666899del - TTN:c.261delA (Q88Kfs*10) - TTN_003552 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.289G>A VUS r.(?) p.(Val97Met) g.179666871C>T - TTN:c.289G>A (V97M) - TTN_003551 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/., ?/? 5 3i c.296-14T>C benign, likely benign r.(=), r.(?) p.(=) g.179665423A>G g.178800696A>G TTN:c.296-14T>C - TTN_000632 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - CLASSIFICATION record, Unknown ? - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_AMC, Terry Vrijenhoek
+?/. 1 4 c.325C>T - r.(?) p.(Arg109*) g.179665380G>A g.178800653G>A - - TTN_000716 - PubMed: Roberts 2015, Journal: Roberts 2015 - - Germline - 1/667 controls - - - Johan den Dunnen
?/. 2 4 c.343G>A VUS r.(?) p.(Val115Met) g.179665362C>T g.178800635C>T TTN:c.343G>A (V115M), NM_003319.4:343G>A (V115M) - TTN_000134 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Somatic - - - - - VKGL-NL_Rotterdam, Johan den Dunnen
?/., -?/., -/. 4 4 c.426C>T likely benign, benign r.(?), r.(=) p.(=) g.179665279G>A g.178800552G>A NM_003319.4:426C>T (A142A), TTN:c.426C>T (=) - TTN_000232 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Groningen
?/. 1 - c.437G>A VUS r.(?) p.(Ser146Asn) g.179665268C>T - TTN:c.437G>A (S146N) - TTN_003550 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.516G>A likely benign r.(=) p.(=) g.179665189C>T - TTN:c.516G>A (=) - TTN_003549 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.542G>A benign, likely benign r.(?) p.(Ser181Asn) g.179665163C>T - TTN:c.542G>A (S181N) - TTN_003548 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Groningen
-/. 1 - c.583+15T>C benign r.(=) p.(=) g.179665107A>G - TTN:c.583+15T>C - TTN_003547 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.583+17G>C likely benign r.(=) p.(=) g.179665105C>G - TTN:c.583+17G>C - TTN_003546 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.593_595del likely benign, VUS r.(?) p.(Glu198del) g.179664626_179664628del - TTN:NM_001256850.1:c.593_595del, NM_001267550.1:c.593_595del, …, TTN:c.593_595delAAG (E198del) - TTN_003545 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 2 - c.617C>A VUS r.(?) p.(Thr206Lys) g.179664604G>T - TTN:NM_001256850.1:c.617C>A, NM_001267550.1:c.617C>A, …, TTN:c.617C>A (T206K) - TTN_003544 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 1 - c.654A>G benign r.(=) p.(=) g.179664567T>C - TTN:c.654A>G (=) - TTN_003543 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.654_655delinsG likely pathogenic r.(?) p.(Thr219Profs*23) g.179664566_179664567delinsC - TTN:c.654_655delAAinsG (T219Pfs*23) - TTN_003542 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.659G>A VUS r.(?) p.(Arg220Gln) g.179664562C>T - TTN:c.659G>A (R220Q) - TTN_003541 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.680C>T VUS r.(?) p.(Ala227Val) g.179664448G>A - TTN:c.680C>T (A227V) - TTN_003540 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.687T>C likely benign r.(=) p.(=) g.179664441A>G - TTN:c.687T>C (=) - TTN_003539 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
?/. 1 - c.752A>G VUS r.(?) p.(His251Arg) g.179664376T>C - TTN:NM_001256850.1:c.752A>G, NM_001267550.1:c.752A>G, … - TTN_003538 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 6 c.755A>G - r.(?) p.(Lys252Arg) 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) g.179664352_179664363del g.178799625_178799636del NM_003319.4:765_776delCAGGATTCCTCC (R256_K260K) - TTN_000202 - PubMed: Greenman 2007 - - Somatic - - - - - Johan den Dunnen
?/., ?/? 2 6 c.776C>T VUS r.(?) p.(Pro259Leu) g.179664352G>A g.178799625G>A TTN:c.776C>T (P259L) - TTN_000631 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - CLASSIFICATION record, Unknown ? - - - - VKGL-NL_Rotterdam, Terry Vrijenhoek
-?/. 1 - c.777G>A likely benign r.(=) p.(=) g.179664351C>T - TTN:c.777G>A (=) - TTN_003537 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/-?, ?/. 3 6 c.835C>T VUS r.(?) p.(Arg279Trp) g.179664293G>A g.178799566G>A TTN:c.835C>T (R279W) - TTN_000594 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: van Spaendonck-Zwarts 2014 - - Germline, CLASSIFICATION record yes - - - - Claire Chauveau, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.910G>A VUS r.(?) p.(Val304Ile) g.179664218C>T - TTN:NM_001256850.1:c.910G>A, NM_001267550.1:c.910G>A, … - TTN_003536 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.970C>T benign r.(?) p.(Pro324Ser) g.179659924G>A - TTN:c.970C>T (P324S) - TTN_003535 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 2 7 c.982C>T - r.(?) p.(Arg328Cys) g.179659912G>A g.178795185G>A - - TTN_000029 in cases and controls PubMed: Greenman 2007, PubMed: Itoh-Satoh 2002 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.997T>A VUS r.(?) p.(Ser333Thr) g.179659897A>T - TTN:c.997T>A (S333T) - TTN_003534 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1003G>A benign r.(?) p.(Val335Met) g.179659891C>T - TTN:c.1003G>A (V335M) - TTN_003533 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/. 2 - c.1050C>T benign, likely benign r.(=) p.(=) g.179659844G>A - TTN:c.1050C>T (=) - TTN_003532 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.1068G>A benign r.(=) p.(=) g.179659826C>T - TTN:c.1068G>A (=) - TTN_003531 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 7 c.1079G>C - r.(?) p.(Arg360Thr) g.179659815C>G g.178795088C>G NM_003319.4:1079G>C (R360T) - TTN_000248 - PubMed: Greenman 2007 - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.1089G>A benign, likely benign r.(=) p.(=) g.179659805C>T - TTN:c.1089G>A (=) - TTN_003530 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
?/. 1 - c.1099T>C VUS r.(?) p.(Ser367Pro) g.179659795A>G - TTN:c.1099T>C (S367P) - TTN_003529 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 7 c.1137A>G - r.(?) p.(=) g.179659757T>C g.178795030T>C NM_003319.4:1137A>G (R379R) - TTN_000230 - PubMed: Greenman 2007 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1168G>A VUS r.(?) p.(Gly390Ser) g.179659726C>T - TTN:c.1168G>A (G390S) - TTN_003528 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1182_1185inv VUS r.(=) p.(=) g.179659709_179659712inv - TTN:c.1182_1185delTGCCinsGGCA (=) - TTN_003527 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1213G>A benign r.(?) p.(Ala405Thr) g.179659681C>T - TTN:c.1213G>A (A405T) - TTN_003526 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 7 c.1221G>A - r.(?) p.(Glu407=) g.179659673C>T g.178794946C>T NM_003319.4:1221G>A (E407E) - TTN_000401 - PubMed: Greenman 2007 - - Germline - - - - - Johan den Dunnen
?/., +?/. 2 7i c.1245+3A>G VUS r.spl? p.? g.179659646T>C g.178794919T>C TTN:NM_001256850.1:c.1245+3A>G, NM_001267550.1:c.1245+3A>G, … - TTN_000715 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Roberts 2015, Journal: Roberts 2015 - - CLASSIFICATION record, Germline - 1/1623 individuals - - - VKGL-NL_Leiden, Johan den Dunnen
-?/. 2 - c.1245+20G>T likely benign r.(=) p.(=) g.179659629C>A - TTN:c.1245+20G>T - TTN_003525 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
-?/. 1 7i c.1246-49C>G - r.(?) p.(=) g.179659327G>C g.178794600G>C 179659327G>C - TTN_000584 present in controls PubMed: Pfeffer 2012 - - Germline yes - - - - Claire Chauveau
-?/., -/. 4 - c.1246-16G>A likely benign, benign r.(=) p.(=) g.179659294C>T - TTN:NM_001256850.1:c.1246-16G>A, NM_001267550.1:c.1246-16G>A, …, TTN:c.1246-16G>A - TTN_003524 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_Groningen
?/. 1 7i c.1246-3delT - r.(spl?) p.(=) g.179659281delA g.178794554delA chr2:g.179659281delA - TTN_000052 - PubMed: Herman 2012 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1292C>T VUS r.(?) p.(Ala431Val) g.179659232G>A - TTN:c.1292C>T (A431V) - TTN_003523 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.1297G>A VUS r.(?) p.(Val433Ile) g.179659227C>T - TTN:c.1297G>A (V433I) - TTN_003522 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.1324G>A VUS r.(?) p.(Val442Met) g.179659200C>T - TTN:c.1324G>A (V442M) - TTN_003521 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1333G>A VUS r.(?) p.(Ala445Thr) g.179659191C>T - TTN:c.1333G>A (A445T) - TTN_003520 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.1365G>A benign r.(=) p.(=) g.179659159C>T - TTN:c.1365G>A (=) - TTN_003519 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 8i c.1398+4C>T - r.(spl?), r.spl? p.(?), p.? g.179659122G>A g.178794395G>A NM_133437:c.C1398+4T - TTN_000569 - PubMed: Lopes 2013, PubMed: Lopes 2013, Journal: Lopes 2013 - - Unknown, Germline - 1/223 cases HCM - - - Claire Chauveau, Johan den Dunnen
-/. 2 - c.1398+8C>T benign r.(=) p.(=) g.179659118G>A - TTN:c.1398+8C>T - TTN_003518 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/., -?/. 3 - c.1398+16C>T benign, likely benign r.(=) p.(=) g.179659110G>A - TTN:c.1398+16C>T - TTN_003517 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen, VKGL-NL_Rotterdam
-/. 1 - c.1413G>A benign r.(=) p.(=) g.179658254C>T - TTN:c.1413G>A (=) - TTN_003516 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1419G>A benign r.(=) p.(=) g.179658248C>T - TTN:c.1419G>A (=) - TTN_003515 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1426G>A VUS r.(?) p.(Val476Ile) g.179658241C>T - TTN:c.1426G>A (V476I) - TTN_003514 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1442T>A VUS r.(?) p.(Val481Glu) g.179658225A>T - TTN:c.1442T>A (V481E) - TTN_003513 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1447G>A VUS r.(?) p.(Ala483Thr) g.179658220C>T - TTN:c.1447G>A (A483T) - TTN_003512 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1449C>T likely benign r.(=) p.(=) g.179658218G>A - TTN:c.1449C>T (A483=) - TTN_003511 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/. 6 9 c.1492G>A likely benign, benign r.(?) p.(Val498Ile) g.179658175C>T g.178793448C>T TTN:NM_001256850.1:c.1492G>A, NM_001267550.1:c.1492G>A, …, TTN:c.1492G>A (V498I) - TTN_000509 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/., -/. 2 - c.1537-4G>A likely benign, benign r.spl? p.? g.179656928C>T - TTN:c.1537-4G>A - TTN_003510 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
-?/., -/. 2 - c.1560A>G likely benign, benign r.(=) p.(=) g.179656901T>C - TTN:c.1560A>G (=) - TTN_003509 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.1690G>A VUS r.(?) p.(Ala564Thr) g.179655545C>T - TTN:c.1690G>A (A564T) - TTN_003508 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1709C>T benign r.(?) p.(Ala570Val) g.179655526G>A - TTN:c.1709C>T (A570V) - TTN_003507 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1727_1731del likely benign r.(?) p.(Lys576Argfs*22) g.179655504_179655508del - TTN:c.1727_1731delAACTA (K576Rfs*22) - TTN_003506 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 2 - c.1800+1G>A likely pathogenic r.spl? p.? g.179655434C>T - TTN:NM_001256850.1:c.1800+1G>A, NM_001267550.1:c.1800+1G>A, …, TTN:c.1800+1G>A - TTN_003505 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.1815T>C likely benign r.(=) p.(=) g.179654828A>G - TTN:c.1815T>C (=) - TTN_003504 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1822A>G VUS r.(?) p.(Thr608Ala) g.179654821T>C - TTN:c.1822A>G (T608A) - TTN_003503 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1854C>G likely benign r.(=) p.(=) g.179654789G>C - TTN:c.1854C>G (=) - TTN_003502 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.1920G>A benign, likely benign r.(=) p.(=) g.179654723C>T - TTN:c.1920G>A (=) - TTN_003501 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-/., -?/. 4 - c.1938+10G>C benign, likely benign r.(=) p.(=) g.179654695C>G - TTN:c.1938+10G>C - TTN_003500 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Utrecht, VKGL-NL_Groningen
-?/. 1 - c.1943G>C likely benign r.(?) p.(Arg648Thr) g.179654220C>G - TTN:NM_001256850.1:c.1943G>C, NM_001267550.1:c.1943G>C, … - TTN_003499 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2061A>G likely benign r.(=) p.(=) g.179654102T>C - TTN:c.2061A>G (=) - TTN_003498 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2151C>T likely benign r.(=) p.(=) g.179650794G>A - TTN:c.2151C>T (P717=) - TTN_003497 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 14 c.2218C>A - r.(?) p.(Arg740Ser) g.179650727G>T g.178786000G>T NM_003319:c.C2080A - TTN_000955 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - Johan den Dunnen
+/. 2 14 c.2219G>T - r.(?) p.Arg740Leu, p.(Arg740Leu) g.179650726C>A g.178785999C>A G>T Arg740Leu - TTN_000001 expression cloning, YTH reduced alpha-actinin binding, not in 520 normal chromosomes; ex14 Z-repeat 7 PubMed: Satoh 1999, PubMed: Satoh 1999, OMIM:var0001 - - In vitro (cloned), Germline - - - - - Johan den Dunnen
?/. 1 14 c.2226C>A - r.(?) p.(=) g.179650719G>T g.178785992G>T (S696S) - TTN_000329 - PubMed: Greenman 2007 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.2226C>T likely benign r.(=) p.(=) g.179650719G>A - TTN:c.2226C>T (=) - TTN_003496 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 14 c.2228C>T - r.(?) p.(Ala743Val), p.Ala743Val g.179650717G>A g.178785990G>A G>C Ala743Val - TTN_000007 not in 520 control chromosomes, expression cloning, YTH 0.40 reduced alpha-actinin binding PubMed: Itoh-Satoh 2002, OMIM:var0007, PubMed: Itoh-Satoh 2002 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
-?/. 1 - c.2229C>T likely benign r.(=) p.(=) g.179650716G>A - TTN:c.2229C>T (=) - TTN_003495 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.2230G>A VUS r.(?) p.(Ala744Thr) g.179650715C>T - TTN:c.2230G>A (A744T) - TTN_003494 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 5 14 c.2244G>A benign r.(=), r.(?) p.(=), p.(Glu748=) g.179650701C>T g.178785974C>T TTN:c.2244G>A (=), NM_003319.4:2106G>A (E702E) - TTN_000496 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007, PubMed: Pfeffer 2012 - rs6715406 CLASSIFICATION record, Germline yes - - - - VKGL-NL_Rotterdam, Johan den Dunnen, VKGL-NL_AMC, VKGL-NL_Groningen
?/. 1 - c.2267A>G VUS r.(?) p.(Glu756Gly) g.179650678T>C - TTN:c.2267A>G (E756G) - TTN_003493 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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