All variants in the TTN-AS1 gene

Information The variants shown are described using the NR_038272.1 transcript reference sequence.

6271 entries on 63 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     
-?/. - n.219+3370G>T r.(?) - - likely benign g.179391733G>T g.178527006G>T TTN(NM_001267550.2):c.*6C>A - TTN_001035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - n.219+3370G>T r.(?) - - benign g.179391733G>T g.178527006G>T TTN(NM_001267550.2):c.*6C>A - TTN_001035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.219+3391A>G r.(?) - - benign g.179391754A>G g.178527027A>G TTN(NM_001256850.1):c.103038T>C (p.(=)), TTN(NM_001267550.1):c.107961T>C (p.H35987=), TTN(NM_001267550.2):c.107961T>C (p.H35987=), TTN(NM_133432.3)... - TTN_001036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.219+3391A>G r.(?) - - likely benign g.179391754A>G g.178527027A>G TTN(NM_001256850.1):c.103038T>C (p.(=)), TTN(NM_001267550.1):c.107961T>C (p.H35987=), TTN(NM_001267550.2):c.107961T>C (p.H35987=), TTN(NM_133432.3)... - TTN_001036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - n.219+3391A>G r.(?) - - likely benign g.179391754A>G g.178527027A>G TTN(NM_001256850.1):c.103038T>C (p.(=)), TTN(NM_001267550.1):c.107961T>C (p.H35987=), TTN(NM_001267550.2):c.107961T>C (p.H35987=), TTN(NM_133432.3)... - TTN_001036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - n.219+3391A>G r.(?) - - likely benign g.179391754A>G g.178527027A>G TTN(NM_001256850.1):c.103038T>C (p.(=)), TTN(NM_001267550.1):c.107961T>C (p.H35987=), TTN(NM_001267550.2):c.107961T>C (p.H35987=), TTN(NM_133432.3)... - TTN_001036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - n.219+3391A>G r.(?) - - benign g.179391754A>G g.178527027A>G TTN(NM_001256850.1):c.103038T>C (p.(=)), TTN(NM_001267550.1):c.107961T>C (p.H35987=), TTN(NM_001267550.2):c.107961T>C (p.H35987=), TTN(NM_133432.3)... - TTN_001036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - n.219+3391A>G r.(?) - - likely benign g.179391754A>G - TTN(NM_001256850.1):c.103038T>C (p.(=)), TTN(NM_001267550.1):c.107961T>C (p.H35987=), TTN(NM_001267550.2):c.107961T>C (p.H35987=), TTN(NM_133432.3)... - TTN_001036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.219+3395A>T r.(?) - - VUS g.179391758A>T g.178527031A>T TTN(NM_001267550.2):c.107957T>A (p.I35986K) - TTN_001037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.219+3401A>G r.(?) - - VUS g.179391764A>G g.178527037A>G TTN(NM_001267550.1):c.107951T>C (p.V35984A) - TTN_001038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - n.219+3437C>A r.(?) - - likely benign g.179391800C>A g.178527073C>A TTN(NM_001256850.1):c.102992G>T (p.(Ser34331Ile)) - TTN_003889 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.219+3441G>C r.(?) - - VUS g.179391804G>C g.178527077G>C TTN(NM_001267550.1):c.107911C>G (p.L35971V) - TTN_001039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.219+3456del r.(?) - - VUS g.179391819del g.178527092del TTN(NM_001267550.2):c.107897delG (p.G35966Vfs*6) - TTN_003890 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.219+3472G>A r.(?) - - likely benign g.179391835G>A g.178527108G>A TTN(NM_001267550.1):c.107880C>T (p.D35960=) - TTN_005430 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.219+3477T>C r.(?) - - VUS g.179391840T>C - - - TTN_007279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - n.219+3488G>T r.(?) - - VUS g.179391851G>T g.178527124G>T - - TTN_005431 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - n.219+3494A>C r.(?) - - VUS g.179391857A>C - TTN(NM_001267550.2):c.107858T>G (p.L35953R) - TTN_007280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - n.219+3512A>C r.(?) - - VUS g.179391875A>C - TTN(NM_001267550.2):c.107840T>G (p.I35947S) - TTN_006832 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.219+3520C>T r.(?) - - benign g.179391883C>T - TTN(NM_001267550.2):c.107832G>A (p.R35944=) - TTN_006080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.219+3526C>T r.(?) - - likely benign g.179391889C>T g.178527162C>T TTN(NM_001267550.1):c.107826G>A (p.Q35942=) - TTN_001040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.219+3539_219+3540del r.(?) - - VUS g.179391902_179391903del - TTN(NM_001267550.1):c.107814_107815delCA (p.H35938Qfs*10) - TTN_006262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.219+3539_219+3540del r.(?) - - VUS g.179391902_179391903del - TTN(NM_001267550.1):c.107814_107815delCA (p.H35938Qfs*10) - TTN_006262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - n.219+3572T>G r.(?) - - VUS g.179391935T>G g.178527208T>G - - TTN_005432 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - n.219+3573C>T r.(?) - - VUS g.179391936C>T - TTN(NM_001267550.1):c.107779G>A (p.E35927K) - TTN_003891 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - n.219+3584T>G r.(?) - - VUS g.179391947T>G g.178527220T>G TTN(NM_001267550.1):c.107768A>C (p.E35923A) - TTN_003892 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - n.219+3586A>G r.(?) - - likely benign g.179391949A>G g.178527222A>G TTN(NM_001267550.1):c.107766T>C (p.G35922=), TTN(NM_001267550.2):c.107766T>C (p.G35922=) - TTN_001041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - n.219+3586A>G r.(?) - - likely benign g.179391949A>G g.178527222A>G TTN(NM_001267550.1):c.107766T>C (p.G35922=), TTN(NM_001267550.2):c.107766T>C (p.G35922=) - TTN_001041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - n.219+3586A>G r.(?) - - benign g.179391949A>G - TTN(NM_001267550.1):c.107766T>C (p.G35922=), TTN(NM_001267550.2):c.107766T>C (p.G35922=) - TTN_001041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.219+3597C>T r.(?) - - VUS g.179391960C>T g.178527233C>T TTN(NM_001267550.2):c.107755G>A (p.A35919T) - TTN_001042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.219+3599C>T r.(?) - - VUS g.179391962C>T - TTN(NM_001267550.1):c.107753G>A (p.(Cys35918Tyr)) - TTN_008274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - n.219+3615C>A r.(?) - - likely benign g.179391978C>A - TTN(NM_001267550.1):c.107737G>T (p.V35913F) - TTN_006869 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.219+3623del r.(?) - - VUS g.179391986del g.178527259del TTN(NM_001267550.2):c.107730delA (p.G35911Afs*4) - TTN_003893 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - n.219+3629A>G r.(?) - - VUS g.179391992A>G g.178527265A>G TTN(NM_001256850.1):c.102800T>C (p.(Ile34267Thr)), TTN(NM_001267550.1):c.107723T>C (p.I35908T), TTN(NM_001267550.2):c.107723T>C (p.I35908T) - TTN_001043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.219+3629A>G r.(?) - - VUS g.179391992A>G g.178527265A>G TTN(NM_001256850.1):c.102800T>C (p.(Ile34267Thr)), TTN(NM_001267550.1):c.107723T>C (p.I35908T), TTN(NM_001267550.2):c.107723T>C (p.I35908T) - TTN_001043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - n.219+3629A>G r.(?) - - VUS g.179391992A>G g.178527265A>G TTN(NM_001256850.1):c.102800T>C (p.(Ile34267Thr)), TTN(NM_001267550.1):c.107723T>C (p.I35908T), TTN(NM_001267550.2):c.107723T>C (p.I35908T) - TTN_001043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.219+3629A>G r.(?) - - VUS g.179391992A>G g.178527265A>G TTN(NM_001256850.1):c.102800T>C (p.(Ile34267Thr)), TTN(NM_001267550.1):c.107723T>C (p.I35908T), TTN(NM_001267550.2):c.107723T>C (p.I35908T) - TTN_001043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.219+3629A>G r.(?) - - VUS g.179391992A>G - TTN(NM_001256850.1):c.102800T>C (p.(Ile34267Thr)), TTN(NM_001267550.1):c.107723T>C (p.I35908T), TTN(NM_001267550.2):c.107723T>C (p.I35908T) - TTN_001043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - n.219+3631G>T r.(?) - - VUS g.179391994G>T g.178527267G>T TTN(NM_001267550.2):c.107721C>A (p.S35907R) - TTN_001044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.219+3652T>C r.(?) - - benign g.179392015T>C g.178527288T>C TTN(NM_001256850.1):c.102777A>G (p.(Glu34259=)), TTN(NM_001267550.1):c.107700A>G (p.E35900=), TTN(NM_001267550.2):c.107700A>G (p.E35900=) - TTN_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.219+3652T>C r.(?) - - likely benign g.179392015T>C g.178527288T>C TTN(NM_001256850.1):c.102777A>G (p.(Glu34259=)), TTN(NM_001267550.1):c.107700A>G (p.E35900=), TTN(NM_001267550.2):c.107700A>G (p.E35900=) - TTN_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - n.219+3652T>C r.(?) - - likely benign g.179392015T>C g.178527288T>C TTN(NM_001256850.1):c.102777A>G (p.(Glu34259=)), TTN(NM_001267550.1):c.107700A>G (p.E35900=), TTN(NM_001267550.2):c.107700A>G (p.E35900=) - TTN_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - n.219+3652T>C r.(?) - - benign g.179392015T>C g.178527288T>C TTN(NM_001256850.1):c.102777A>G (p.(Glu34259=)), TTN(NM_001267550.1):c.107700A>G (p.E35900=), TTN(NM_001267550.2):c.107700A>G (p.E35900=) - TTN_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - n.219+3652T>C r.(?) - - likely benign g.179392015T>C - TTN(NM_001256850.1):c.102777A>G (p.(Glu34259=)), TTN(NM_001267550.1):c.107700A>G (p.E35900=), TTN(NM_001267550.2):c.107700A>G (p.E35900=) - TTN_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.219+3656A>G r.(?) - - VUS g.179392019A>G - TTN(NM_001267550.2):c.107696T>C (p.I35899T) - TTN_007606 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - n.219+3664C>T r.(?) - - likely benign g.179392027C>T - - - TTN_006081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - n.219+3665G>A r.(?) - - VUS g.179392028G>A g.178527301G>A TTN(NM_001267550.2):c.107687C>T (p.P35896L) - TTN_001045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.219+3696del r.(?) - - benign g.179392059del g.178527332del TTN(NM_001267550.2):c.107681-18delT - TTN_001046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.219+3819C>T r.(?) - - VUS g.179392182C>T - TTN(NM_001267550.2):c.107671G>A (p.G35891S) - TTN_008275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - n.219+3849C>A r.(?) - - VUS g.179392212C>A g.178527485C>A TTN(NM_001267550.1):c.107641G>T (p.E35881*), TTN(NM_001267550.2):c.107641G>T (p.E35881*) - TTN_001047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - n.219+3849C>A r.(?) - - likely pathogenic g.179392212C>A - TTN(NM_001267550.1):c.107641G>T (p.E35881*), TTN(NM_001267550.2):c.107641G>T (p.E35881*) - TTN_001047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.219+3860A>G r.(?) - - VUS g.179392223A>G g.178527496A>G - - TTN_003894 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - n.219+3874C>T r.(?) - - likely benign g.179392237C>T g.178527510C>T - - TTN_003895 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - n.219+3885T>C r.(?) - - VUS g.179392248T>C - TTN(NM_001267550.1):c.107605A>G (p.S35869G), TTN(NM_001267550.2):c.107605A>G (p.S35869G) - TTN_006870 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - n.219+3885T>C r.(?) - - benign g.179392248T>C - TTN(NM_001267550.1):c.107605A>G (p.S35869G), TTN(NM_001267550.2):c.107605A>G (p.S35869G) - TTN_006870 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.219+3897C>T r.(?) - - VUS g.179392260C>T g.178527533C>T TTN(NM_001267550.1):c.107593G>A (p.E35865K), TTN(NM_001267550.2):c.107593G>A (p.E35865K) - TTN_001048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.219+3897C>T r.(?) - - VUS g.179392260C>T g.178527533C>T TTN(NM_001267550.1):c.107593G>A (p.E35865K), TTN(NM_001267550.2):c.107593G>A (p.E35865K) - TTN_001048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.219+3897C>T r.(?) - - VUS g.179392260C>T g.178527533C>T TTN(NM_001267550.1):c.107593G>A (p.E35865K), TTN(NM_001267550.2):c.107593G>A (p.E35865K) - TTN_001048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - n.219+3913C>T r.(?) - - likely benign g.179392276C>T g.178527549C>T - - TTN_003896 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - n.219+3914A>G r.(?) - - benign g.179392277A>G g.178527550A>G TTN(NM_001256850.1):c.102653T>C (p.(Met34218Thr)), TTN(NM_001267550.1):c.107576T>C (p.M35859T), TTN(NM_001267550.2):c.107576T>C (p.M35859T), TTN(N...) - TTN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.219+3914A>G r.(?) - - likely benign g.179392277A>G g.178527550A>G TTN(NM_001256850.1):c.102653T>C (p.(Met34218Thr)), TTN(NM_001267550.1):c.107576T>C (p.M35859T), TTN(NM_001267550.2):c.107576T>C (p.M35859T), TTN(N...) - TTN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.219+3914A>G r.(?) - - VUS g.179392277A>G g.178527550A>G TTN(NM_001256850.1):c.102653T>C (p.(Met34218Thr)), TTN(NM_001267550.1):c.107576T>C (p.M35859T), TTN(NM_001267550.2):c.107576T>C (p.M35859T), TTN(N...) - TTN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - n.219+3914A>G r.(?) - - likely benign g.179392277A>G g.178527550A>G TTN(NM_001256850.1):c.102653T>C (p.(Met34218Thr)), TTN(NM_001267550.1):c.107576T>C (p.M35859T), TTN(NM_001267550.2):c.107576T>C (p.M35859T), TTN(N...) - TTN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - n.219+3937C>A r.(?) - - VUS g.179392300C>A g.178527573C>A TTN(NM_001267550.1):c.107553G>T (p.M35851I) - TTN_001049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - n.219+3971G>C r.(?) - - likely benign g.179392334G>C g.178527607G>C - - TTN_003897 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - n.219+3978T>C r.(?) - - VUS g.179392341T>C g.178527614T>C TTN(NM_001267550.1):c.107512A>G (p.S35838G), TTN(NM_001267550.2):c.107512A>G (p.S35838G) - TTN_001050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.219+3978T>C r.(?) - - likely benign g.179392341T>C g.178527614T>C TTN(NM_001267550.1):c.107512A>G (p.S35838G), TTN(NM_001267550.2):c.107512A>G (p.S35838G) - TTN_001050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - n.219+3978T>C r.(?) - - VUS g.179392341T>C - TTN(NM_001267550.1):c.107512A>G (p.S35838G), TTN(NM_001267550.2):c.107512A>G (p.S35838G) - TTN_001050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - n.219+3993dup r.(?) - - likely pathogenic g.179392356dup g.178527629dup TTN(NM_001267550.2):c.107497dupA (p.S35833Kfs*9) - TTN_003898 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - n.219+4040G>A r.(?) - - VUS g.179392403G>A g.178527676G>A TTN(NM_001267550.2):c.107450C>T (p.S35817L) - TTN_001052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.219+4040G>A r.(?) - - VUS g.179392403G>A - TTN(NM_001267550.2):c.107450C>T (p.S35817L) - TTN_001052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - n.219+4093G>A r.(?) - - benign g.179392456G>A g.178527729G>A TTN(NM_001267550.1):c.107397C>T (p.S35799=), TTN(NM_001267550.2):c.107397C>T (p.S35799=), TTN(NM_133432.3):c.80577C>T (p.S26859=) - TTN_001053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.219+4093G>A r.(?) - - likely benign g.179392456G>A g.178527729G>A TTN(NM_001267550.1):c.107397C>T (p.S35799=), TTN(NM_001267550.2):c.107397C>T (p.S35799=), TTN(NM_133432.3):c.80577C>T (p.S26859=) - TTN_001053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - n.219+4093G>A r.(?) - - likely benign g.179392456G>A g.178527729G>A TTN(NM_001267550.1):c.107397C>T (p.S35799=), TTN(NM_001267550.2):c.107397C>T (p.S35799=), TTN(NM_133432.3):c.80577C>T (p.S26859=) - TTN_001053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - n.219+4093G>A r.(?) - - likely benign g.179392456G>A g.178527729G>A TTN(NM_001267550.1):c.107397C>T (p.S35799=), TTN(NM_001267550.2):c.107397C>T (p.S35799=), TTN(NM_133432.3):c.80577C>T (p.S26859=) - TTN_001053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - n.219+4093G>A r.(?) - - benign g.179392456G>A g.178527729G>A TTN(NM_001267550.1):c.107397C>T (p.S35799=), TTN(NM_001267550.2):c.107397C>T (p.S35799=), TTN(NM_133432.3):c.80577C>T (p.S26859=) - TTN_001053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - n.219+4098G>T r.(?) - - VUS g.179392461G>T - - - TTN_006871 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - n.219+4106A>G r.(?) - - VUS g.179392469A>G g.178527742A>G TTN(NM_001256850.1):c.102461T>C (p.(Val34154Ala)), TTN(NM_001267550.2):c.107384T>C (p.V35795A) - TTN_001054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.219+4106A>G r.(?) - - VUS g.179392469A>G - TTN(NM_001256850.1):c.102461T>C (p.(Val34154Ala)), TTN(NM_001267550.2):c.107384T>C (p.V35795A) - TTN_001054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.219+4624G>A r.(?) - - benign g.179392987G>A g.178528260G>A TTN(NM_001267550.1):c.107377+14C>T, TTN(NM_001267550.2):c.107377+14C>T - TTN_001055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - n.219+4624G>A r.(?) - - benign g.179392987G>A g.178528260G>A TTN(NM_001267550.1):c.107377+14C>T, TTN(NM_001267550.2):c.107377+14C>T - TTN_001055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.219+4633C>T r.(?) - - VUS g.179392996C>T - TTN(NM_001267550.2):c.107377+5G>A - TTN_007796 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - n.219+4637C>T r.(?) - - likely pathogenic g.179393000C>T g.178528273C>T TTN(NM_001267550.2):c.107377+1G>A - TTN_000734 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - n.219+4677G>A r.(?) - - VUS g.179393040G>A g.178528313G>A TTN(NM_001256850.1):c.102415C>T (p.(Arg34139Cys)), TTN(NM_001267550.2):c.107338C>T (p.R35780C) - TTN_003899 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.219+4677G>A r.(?) - - VUS g.179393040G>A - TTN(NM_001256850.1):c.102415C>T (p.(Arg34139Cys)), TTN(NM_001267550.2):c.107338C>T (p.R35780C) - TTN_003899 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - n.219+4695T>C r.(?) - - likely benign g.179393058T>C - - - TTN_007862 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - n.219+4711G>C r.(?) - - VUS g.179393074G>C g.178528347G>C TTN(NM_001256850.1):c.102381C>G (p.(Asp34127Glu)) - TTN_003900 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.219+4713C>T r.(?) - - VUS g.179393076C>T g.178528349C>T TTN(NM_001267550.1):c.107302G>A (p.D35768N) - TTN_001056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - n.219+4748A>G r.(?) - - benign g.179393111A>G g.178528384A>G TTN(NM_001256850.1):c.102344T>C (p.(Val34115Ala)), TTN(NM_001267550.1):c.107267T>C (p.V35756A), TTN(NM_001267550.2):c.107267T>C (p.V35756A) - TTN_000399 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.219+4748A>G r.(?) - - benign g.179393111A>G g.178528384A>G TTN(NM_001256850.1):c.102344T>C (p.(Val34115Ala)), TTN(NM_001267550.1):c.107267T>C (p.V35756A), TTN(NM_001267550.2):c.107267T>C (p.V35756A) - TTN_000399 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - n.219+4748A>G r.(?) - - benign g.179393111A>G g.178528384A>G TTN(NM_001256850.1):c.102344T>C (p.(Val34115Ala)), TTN(NM_001267550.1):c.107267T>C (p.V35756A), TTN(NM_001267550.2):c.107267T>C (p.V35756A) - TTN_000399 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - n.219+4748A>G - - - likely benign g.179393111A>G g.178528384A>G - - TTN_000399 244 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16866378 Germline - 244/2795 individuals - - - Mohammed Faruq
-?/. - n.219+4748A>G - - - likely benign g.179393111A>G g.178528384A>G - - TTN_000399 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16866378 Germline - 7/2795 individuals - - - Mohammed Faruq
?/. - n.219+4760C>T r.(=) - - VUS g.179393123C>T g.178528396C>T - - TTN_005902 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs760107623 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. - n.219+4761G>A r.(?) - - likely benign g.179393124G>A g.178528397G>A TTN(NM_001267550.1):c.107254C>T (p.R35752C), TTN(NM_001267550.2):c.107254C>T (p.R35752C) - TTN_001057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - n.219+4761G>A r.(?) - - likely benign g.179393124G>A g.178528397G>A TTN(NM_001267550.1):c.107254C>T (p.R35752C), TTN(NM_001267550.2):c.107254C>T (p.R35752C) - TTN_001057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.219+4761G>A r.(?) - - likely benign g.179393124G>A g.178528397G>A TTN(NM_001267550.1):c.107254C>T (p.R35752C), TTN(NM_001267550.2):c.107254C>T (p.R35752C) - TTN_001057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.219+4785T>C r.(?) - - VUS g.179393148T>C g.178528421T>C TTN(NM_001267550.1):c.107230A>G (p.I35744V) - TTN_001058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.219+4915C>T r.(?) - - VUS g.179393278C>T - TTN(NM_001267550.2):c.107200G>A (p.E35734K) - TTN_008276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - n.219+4951_219+4955del r.(?) - - likely pathogenic g.179393314_179393318del g.178528587_178528591del TTN(NM_001267550.1):c.107163_107167del (p.(Phe35721LeufsTer2)) - TTN_003901 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - n.219+4951_219+4955del - - ACMG pathogenic (recessive) g.179393314_179393318del g.178528587_178528591del NM_001256850.2:c.102240_102244del - TTN_003901 ACMG PVS1 PM2 PP5 PubMed: Cavdarli 2023 - rs794727544 Germline - - - - - Johan den Dunnen
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