Full data view for 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.

16063 entries on 161 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-14+5G>C r.(?) p.(=) Unknown - likely benign g.179671934C>G g.178807207C>G - - TTN_006076 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CNM - - - F ? France - - - - - 1 Mireille Cossee
?/. - c.-13-5T>G r.(?) p.(?) Unknown - VUS g.179669387A>C - - - TTN_007986 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 43i c.10115-1712_10115-1677AC[16_18] r.(=) p.(=) Unknown - benign g.179625576_179625611GT[16_18] - 10115AC(16_18) - TTN_000525 sequence comparison - - - Germline - - - - - DNA SEQ - - Healthy/Control - - GenBank - - - - - - - - 1 Johan den Dunnen
-/. 93i c.26762-39_26762-10TTTGT[5_9] r.(=) p.(=) Parent #1 - benign g.179578109_179578138ACAAA[5_9] - - - TTN_000017 sequence comparison - - - Germline - - - - - DNA SEQ - - Healthy/Control - - GenBank - - - - - - - - 1 Johan den Dunnen
-/. 111i c.30598+153_30599-162A[11_12] r.(=) p.(=) Parent #1 - benign g.179566092_179566102T[11_12] - - - TTN_000018 sequence comparison - - - Germline - - - - - DNA SEQ - - Healthy/Control - - GenBank - - - - - - - - 1 Johan den Dunnen
-/. 128i c.32312-540_32312-516A[22_25] r.(=) p.(=) Unknown - benign g.179550841_179550865T[22_25] - 32354-540A(22_25) - TTN_000526 sequence comparison - - - Germline - - - - - DNA SEQ - - Healthy/Control - - GenBank - - - - - - - - 1 Johan den Dunnen
-/. 147i c.34292-74_34292-49AT[13_16] r.(=) p.(=) Unknown - benign g.179542063_179542088TA[13_16] - 34333+260AT(13_16) - TTN_000527 sequence comparison - - - Germline - - - - - DNA SEQ - - Healthy/Control - - GenBank - - - - - - - - 1 Johan den Dunnen
-/. 216i c.40222+3TA[11_15] r.(=) p.(=) Parent #1 - benign g.179511788TA[11_15] g.178647061TA[11_15] - - TTN_000000 sequence comparison - - - Germline - - - - - DNA SEQ - - Healthy/Control controls - GenBank - - - - - - - - 1 Johan den Dunnen
-/. 217i c.40298-116TA[21_23] r.(=) p.(=) Parent #1 - benign g.179510873TA[21_23] g.178646146TA[21_23] - - TTN_006068 sequence comparison - - - Germline - - - - - DNA SEQ - - Healthy/Control controls - - - - - - - - - - 1 Johan den Dunnen
-/. 225i c.40927+179AT[22_26] r.(=) p.(=) Parent #1 - benign g.179501917AT[22_26] g.178637190AT[22_26] - - TTN_006069 sequence comparison - - - Germline - - - - - DNA SEQ - - Healthy/Control controls - - - - - - - - - - 1 Johan den Dunnen
?/. ? c.? r.? p.? Parent #2 - VUS g.? - - - TTN_000000 - - - - Unknown - - - - - DNA SEQ - - LGMD - PubMed: Udd 2005, PubMed: Evila 2014 - ? no Finland - - - - - 1 Johan den Dunnen
?/. - c.? r.(?) p.P21133L Parent #1 - VUS g.? - 63398C>T (P21133L) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.M30508I Parent #1 - VUS g.? - 91524G>A (M30508I) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.A31667T Parent #1 - VUS g.? - 94999G>A (A31667T) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.(?) Parent #1 - VUS g.? - 102537_102540dupAGTC - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.N6780K Parent #1 - VUS g.? - 20340T>A (N6780K) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.K31451R Parent #1 - VUS g.? - 94352A>G (K31451R) - TTN_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.P7130S Parent #1 - VUS g.? - 21388C>T (P7130S) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.R32085H Parent #1 - VUS g.? - 96254 (R32085H) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.I14677T Parent #1 - VUS g.? - 44030T>C (I14677T) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.? r.(?) p.E16358X Parent #1 - likely pathogenic g.? - 49072G>T (E16358X) - TTN_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.A20503T Parent #1 - VUS g.? - 61507G>A (A20503T) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.R14197Q Parent #1 - VUS g.? - 42590G>A (R14197Q) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.Q5640H Parent #1 - VUS g.? - 16920A>T (Q5640H) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.Y14291H Parent #1 - VUS g.? - 42871T>C (Y14291H) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.P17479P Parent #1 - VUS g.? - 52437T>A (P17479P) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.F260981 Parent #1 - VUS g.? - 78292T>A (F260981) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.D4272Y Parent #1 - VUS g.? - 12818G>T (D4272Y) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.G4492D Parent #1 - VUS g.? - 13475G>A (G4492D) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.L17001Q Parent #1 - VUS g.? - 51002T>A (L17001Q) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.L5059M Parent #1 - VUS g.? - 15175C>A (L5059M) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.S25442P Parent #1 - VUS g.? - 76324T>C (S25442P) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.(?) Parent #1 - VUS g.? - 25725_25726 (?) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.? r.(?) p.D5004G Parent #1 - VUS g.? - 15011A>G (D5004G) - TTN_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 275 c.? r.? p.? Parent #1 - likely pathogenic g.179438175dup g.178573448dup c.72686dupC (Ser24230IlefsTer8) - TTN_000000 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2684 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. 311 c.? r.? p.? Parent #2 - VUS g.? - c.99683A>C (Glu33228Ala) - SNRNP200_000007 - - ClinVar-RCV000642697.1 - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2684 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.8C>A r.(?) p.(Thr3Asn) Unknown - VUS g.179669362G>T - TTN(NM_001267550.2):c.8C>A (p.T3N) - TTN_008627 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.26C>T r.(?) p.(Thr9Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.33G>A r.(?) p.(Pro11=) Unknown - benign g.179669337C>T g.178804610C>T TTN(NM_001267550.1):c.33G>A (p.(Pro11=)), TTN(NM_001267550.2):c.33G>A (p.P11=) - TTN_003556 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33G>A r.(?) p.(Pro11=) Unknown - likely benign g.179669337C>T g.178804610C>T TTN(NM_001267550.1):c.33G>A (p.(Pro11=)), TTN(NM_001267550.2):c.33G>A (p.P11=) - TTN_003556 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33G>A r.(?) p.(Pro11=) Unknown - likely benign g.179669337C>T g.178804610C>T TTN(NM_001267550.1):c.33G>A (p.(Pro11=)), TTN(NM_001267550.2):c.33G>A (p.P11=) - TTN_003556 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.33G>A r.(?) p.(Pro11=) Unknown - VUS g.179669337C>T - TTN(NM_001267550.1):c.33G>A (p.(Pro11=)), TTN(NM_001267550.2):c.33G>A (p.P11=) - TTN_003556 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.43G>A r.(?) p.(Val15Ile) Parent #1 - VUS g.179669327C>T g.178804600C>T NM_133378.4:c.43G>A - TTN_003880 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.46G>A r.(?) p.(Val16Met) Unknown - VUS g.179669324C>T - TTN(NM_001267550.2):c.46G>A (p.V16M) - TTN_006793 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.56A>G r.(?) p.(Glu19Gly) Unknown - VUS g.179669314T>C - TTN(NM_001267550.2):c.56A>G (p.E19G) - TTN_007603 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66C>T r.(?) p.(Thr22=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66C>T r.(?) p.(Thr22=) Unknown - likely benign g.179669304G>A - TTN(NM_001267550.1):c.66C>T (p.T22=) - TTN_005413 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67G>A r.(?) p.(Ala23Thr) Unknown - VUS g.179669303C>T - TTN(NM_001267550.2):c.67G>A (p.A23T) - TTN_007602 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67G>A r.(?) p.(Ala23Thr) Unknown - VUS g.179669303C>T - TTN(NM_001267550.2):c.67G>A (p.A23T) - TTN_007602 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.71C>G r.(?) p.(Thr24Ser) Unknown - VUS g.179669299G>C - - - TTN_006261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.71C>T r.(?) p.(Thr24Ile) Unknown - VUS g.179669299G>A g.178804572G>A TTN(NM_001267550.1):c.71C>T (p.T24I), TTN(NM_001267550.2):c.71C>T (p.T24I) - TTN_005412 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.71C>T r.(?) p.(Thr24Ile) Unknown - VUS g.179669299G>A g.178804572G>A TTN(NM_001267550.1):c.71C>T (p.T24I), TTN(NM_001267550.2):c.71C>T (p.T24I) - TTN_005412 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.89G>A r.(?) p.(Ser30Asn) Unknown - VUS g.179669281C>T - TTN(NM_001267550.1):c.89G>A (p.(Ser30Asn)) - TTN_008524 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.91+5G>A r.(spl?) p.(?) Parent #1 - VUS g.179669274C>T g.178804547C>T IVS2+5G>A - TTN_000120 - PubMed: Greenman 2007 - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
-/. - c.92-21T>C r.(=) p.(=) Unknown - benign g.179667089A>G g.178802362A>G TTN(NM_001267550.2):c.92-21T>C - TTN_003555 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.117G>A r.(?) p.(Trp39Ter) Parent #1 ACMG likely pathogenic (recessive) g.179667043C>T g.178802316C>T - - TTN_007694 ACMG PVS1 PM2 PubMed: Cavdarli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD D65 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients F - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.117G>A r.(?) p.(Trp39*) Parent #1 ACMG likely pathogenic (recessive) g.179667043C>T g.178802316C>T NM_001256850.2:c.117G>A - TTN_007694 ACMG PVS1 PM2 PubMed: Cavdarli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD D65 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) F - Turkey - - - - - 1 Johan den Dunnen
-/. - c.156C>G r.(?) p.(Pro52=) Unknown - benign g.179667004G>C g.178802277G>C TTN(NM_001267550.2):c.156C>G (p.P52=) - TTN_005411 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.156C>T r.(?) p.(Pro52=) Unknown - benign g.179667004G>A g.178802277G>A TTN(NM_001267550.2):c.156C>T (p.P52=) - TTN_003554 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.156C>T r.(?) p.(=) Parent #1 - VUS g.179667004G>A g.178802277G>A 156C>T (P52=) - TTN_003554 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 3 c.160G>A r.(?) p.(Val54Met) Paternal (confirmed) - pathogenic g.179667000C>T g.178802273C>T G>A Val54Met - TTN_000008 not in 520 control chromosomes; change decreases affinity for TCAP PubMed: Itoh-Satoh 2002, OMIM:var0008 - - Germline - - - - - DNA SEQ - - CMD - - father died of CMD F - Japan - >19y - - - 2 Johan den Dunnen
+?/. 3 c.160G>A r.(?) p.Val54Met Unknown - NA g.179667000C>T g.178802273C>T - - TTN_000008 expression cloning, Y2H 0.40 reduced TCAP binding PubMed: Itoh-Satoh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.177C>A r.(?) p.(Ser59Arg) Parent #1 - VUS g.179666983G>T g.178802256G>T 177C>A (S59R) - TTN_003879 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.177C>A r.(?) p.(Ser59Arg) Unknown - VUS g.179666983G>T g.178802256G>T TTN(NM_001256850.1):c.177C>A (p.(Ser59Arg)), TTN(NM_001267550.1):c.177C>A (p.S59R), TTN(NM_001267550.2):c.177C>A (p.S59R) - TTN_003879 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.177C>A r.(?) p.(Ser59Arg) Unknown - VUS g.179666983G>T g.178802256G>T TTN(NM_001256850.1):c.177C>A (p.(Ser59Arg)), TTN(NM_001267550.1):c.177C>A (p.S59R), TTN(NM_001267550.2):c.177C>A (p.S59R) - TTN_003879 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.177C>A r.(?) p.(Ser59Arg) Unknown - VUS g.179666983G>T g.178802256G>T TTN(NM_001256850.1):c.177C>A (p.(Ser59Arg)), TTN(NM_001267550.1):c.177C>A (p.S59R), TTN(NM_001267550.2):c.177C>A (p.S59R) - TTN_003879 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.177C>A r.(?) p.(Ser59Arg) Unknown - VUS g.179666983G>T - TTN(NM_001256850.1):c.177C>A (p.(Ser59Arg)), TTN(NM_001267550.1):c.177C>A (p.S59R), TTN(NM_001267550.2):c.177C>A (p.S59R) - TTN_003879 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.177C>A r.(?) p.(Ser59Arg) Unknown - VUS g.179666983G>T - TTN(NM_001256850.1):c.177C>A (p.(Ser59Arg)), TTN(NM_001267550.1):c.177C>A (p.S59R), TTN(NM_001267550.2):c.177C>A (p.S59R) - TTN_003879 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.177C>T r.(?) p.(Ser59=) Unknown - likely benign g.179666983G>A g.178802256G>A - - TTN_005410 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.178G>T r.(?) p.(Asp60Tyr) Unknown - likely benign g.179666982C>A g.178802255C>A - - TTN_000447 - PubMed: Greenman 2007 - - Germline - - - - - DNA SEQ - - cancer - - - - - - - - - - - 3 Johan den Dunnen
-/. - c.178G>T r.(?) p.(Asp60Tyr) Unknown - benign g.179666982C>A g.178802255C>A TTN(NM_001256850.1):c.178G>T (p.(Asp60Tyr)), TTN(NM_001267550.1):c.178G>T (p.D60Y), TTN(NM_001267550.2):c.178G>T (p.D60Y), TTN(NM_133432.3):c.178G>... - TTN_000447 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.178G>T r.(?) p.(Asp60Tyr) Unknown - benign g.179666982C>A g.178802255C>A TTN(NM_001256850.1):c.178G>T (p.(Asp60Tyr)), TTN(NM_001267550.1):c.178G>T (p.D60Y), TTN(NM_001267550.2):c.178G>T (p.D60Y), TTN(NM_133432.3):c.178G>... - TTN_000447 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.178G>T r.(?) p.(Asp60Tyr) Unknown - benign g.179666982C>A g.178802255C>A TTN(NM_001256850.1):c.178G>T (p.(Asp60Tyr)), TTN(NM_001267550.1):c.178G>T (p.D60Y), TTN(NM_001267550.2):c.178G>T (p.D60Y), TTN(NM_133432.3):c.178G>... - TTN_000447 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.178G>T r.(?) p.(Asp60Tyr) Unknown - likely benign g.179666982C>A g.178802255C>A TTN(NM_001256850.1):c.178G>T (p.(Asp60Tyr)), TTN(NM_001267550.1):c.178G>T (p.D60Y), TTN(NM_001267550.2):c.178G>T (p.D60Y), TTN(NM_133432.3):c.178G>... - TTN_000447 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.178G>T r.(?) p.(Asp60Tyr) Unknown - benign g.179666982C>A g.178802255C>A TTN(NM_001256850.1):c.178G>T (p.(Asp60Tyr)), TTN(NM_001267550.1):c.178G>T (p.D60Y), TTN(NM_001267550.2):c.178G>T (p.D60Y), TTN(NM_133432.3):c.178G>... - TTN_000447 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.178G>T r.(?) p.(Asp60Tyr) Parent #1 - likely benign g.179666982C>A g.178802255C>A - - TTN_000447 73 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35683768 Germline - 73/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 73 Mohammed Faruq
-?/. - c.180T>C r.(?) p.(Asp60=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.186C>T r.(?) p.(=) Parent #1 - VUS g.179666974G>A g.178802247G>A 186C>T (R62R) - TTN_003878 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.187G>A r.(?) p.(Ala63Thr) Unknown - VUS g.179666973C>T g.178802246C>T - - TTN_006079 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P94 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
-?/. - c.197C>T r.(?) p.(Thr66Met) Unknown - likely benign g.179666963G>A g.178802236G>A - - TTN_005872 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.198G>A r.(?) p.(Thr66=) Unknown - benign g.179666962C>T - TTN(NM_001267550.2):c.198G>A (p.T66=) - TTN_006792 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.204C>T r.(?) p.(Pro68=) Unknown - VUS g.179666956G>A g.178802229G>A TTN(NM_001256850.1):c.204C>T (p.(Pro68=)) - TTN_005409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.207C>T r.(?) p.(=) Unknown - benign g.179666953G>A - TTN(NM_001267550.2):c.207C>T (p.A69=) - TTN_008251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.210G>A r.(?) p.(=) Unknown - likely benign g.179666950C>T - TTN(NM_001267550.2):c.210G>A (p.V70=) - TTN_008872 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.227G>C r.(?) p.(Gly76Ala) Unknown - VUS g.179666933C>G - TTN(NM_001256850.1):c.227G>C (p.(Gly76Ala)) - TTN_005408 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.230G>A r.(?) p.(Arg77Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245C>A r.(?) p.(Ala82Asp) Unknown - VUS g.179666915G>T g.178802188G>T - - TTN_003586 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.261del r.(?) p.(Gln88LysfsTer10) Unknown - VUS g.179666899del - TTN(NM_001267550.1):c.261delA (p.Q88Kfs*10) - TTN_003552 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.266C>G r.(?) p.(Ala89Gly) Unknown - VUS g.179666894G>C g.178802167G>C TTN(NM_001267550.1):c.266C>G (p.(Ala89Gly)), TTN(NM_001267550.2):c.266C>G (p.A89G) - TTN_005406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.266C>G r.(?) p.(Ala89Gly) Unknown - VUS g.179666894G>C g.178802167G>C TTN(NM_001267550.1):c.266C>G (p.(Ala89Gly)), TTN(NM_001267550.2):c.266C>G (p.A89G) - TTN_005406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.266C>G r.(?) p.(Ala89Gly) Unknown - likely benign g.179666894G>C - TTN(NM_001267550.1):c.266C>G (p.(Ala89Gly)), TTN(NM_001267550.2):c.266C>G (p.A89G) - TTN_005406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.289G>A r.(?) p.(Val97Met) Unknown - VUS g.179666871C>T g.178802144C>T TTN(NM_001267550.1):c.289G>A (p.V97M), TTN(NM_001267550.2):c.289G>A (p.V97M) - TTN_003551 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.289G>A r.(?) p.(Val97Met) Unknown - benign g.179666871C>T - TTN(NM_001267550.1):c.289G>A (p.V97M), TTN(NM_001267550.2):c.289G>A (p.V97M) - TTN_003551 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.295+12G>A r.(=) p.(=) Unknown - benign g.179666853C>T g.178802126C>T TTN(NM_001267550.2):c.295+12G>A - TTN_005871 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3i c.296-14T>C r.(?) p.(=) Parent #1 - VUS g.179665423A>G g.178800696A>G - - TTN_000632 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - Unknown ? - - - - DNA SEQ, SEQ-NG leukocyte - CMH - - - ? ? Netherlands white - - - - 1 Terry Vrijenhoek
-/. - c.296-14T>C r.(=) p.(=) Unknown - benign g.179665423A>G g.178800696A>G TTN(NM_001256850.1):c.296-14T>C (p.(=)), TTN(NM_001267550.1):c.296-14T>C, TTN(NM_001267550.2):c.296-14T>C, TTN(NM_133432.3):c.296-14T>C - TTN_000632 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.296-14T>C r.(=) p.(=) Unknown - likely benign g.179665423A>G g.178800696A>G TTN(NM_001256850.1):c.296-14T>C (p.(=)), TTN(NM_001267550.1):c.296-14T>C, TTN(NM_001267550.2):c.296-14T>C, TTN(NM_133432.3):c.296-14T>C - TTN_000632 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.296-14T>C r.(=) p.(=) Unknown - benign g.179665423A>G g.178800696A>G TTN(NM_001256850.1):c.296-14T>C (p.(=)), TTN(NM_001267550.1):c.296-14T>C, TTN(NM_001267550.2):c.296-14T>C, TTN(NM_133432.3):c.296-14T>C - TTN_000632 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.296-14T>C r.(=) p.(=) Unknown - benign g.179665423A>G g.178800696A>G TTN(NM_001256850.1):c.296-14T>C (p.(=)), TTN(NM_001267550.1):c.296-14T>C, TTN(NM_001267550.2):c.296-14T>C, TTN(NM_133432.3):c.296-14T>C - TTN_000632 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.296-14T>C r.(=) p.(=) Unknown - benign g.179665423A>G g.178800696A>G TTN(NM_001256850.1):c.296-14T>C (p.(=)), TTN(NM_001267550.1):c.296-14T>C, TTN(NM_001267550.2):c.296-14T>C, TTN(NM_133432.3):c.296-14T>C - TTN_000632 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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