Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
TTN
Normalized c.HGVS
c.100244C>T, c.10099C>T, c.101479C>T, c.102451G>C, c.104458G>A and 45 more
Normalized p.HGVS
p.(Ala14844Thr), p.(Ala28745Gly), p.(Ala4875Gly), p.(Ala743Val), p.(Arg15470Cys) and 43 more
Matching records
2605
PM3-positive records
64
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| TTN |
NM_001267550.2:c.51377A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.31426 + 1G > C; splice donor
context: Confirmed in trans
|
39277846
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.
Human molecular genetics, 2024
|
Main article | |
| TTN |
NM_001267550.2:c.95234T>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.29024C > A; p.Ser9675*
context: Confirmed in trans
|
39277846
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.
Human molecular genetics, 2024
|
Main article | |
| TTN |
NM_001267550.2:c.8687C>T
|
Phase-confirmed PM3 evidence
Needs review
|
PM3 evidence identified; partner variant not structured
context: Confirmed in trans
|
32927679
State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.
International journal of molecular sciences, 2020
|
Main article | |
| TTN |
NM_001267550.2:c.106919T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.91476T>A; Tyr30492Ter
context: Compound heterozygous candidate
|
41749372
A comprehensive framework for the interpretation of TTN missense variants.
Genome medicine, 2026
|
Main article | |
| TTN |
NM_001267550.2:c.8687C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41569083
A titin missense variant drives atrial electrical remodeling and is associated with atrial fibrillation.
eLife, 2026
|
Main article | |
| TTN |
NM_001267550.2:c.106925G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40361203
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.
Human genomics, 2025
|
Main article | |
| TTN |
NM_001267550.2:c.64681G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40361203
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.
Human genomics, 2025
|
Main article | |
| TTN |
NM_001267550.2:c.70982C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.100825C>T; p.(Arg33609*); premature stop
context: Compound heterozygous candidate
|
39063061
Undetected Neuromuscular Disease in Patients after Heart Transplantation.
International journal of molecular sciences, 2024
|
Main article | |
| TTN |
NM_001267550.2:c.12845T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.100540A>T; c.15113T>A; c.16064T>A; +43 more
context: Compound heterozygous candidate
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| TTN |
NM_001267550.2:c.34670C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.13282+46025C>T; c.13657+46025C>T; c.13858+46025C>T; +2 more
context: Compound heterozygous candidate
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| TTN |
NM_001267550.2:c.75833G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.77167C>T; p.(Arg25723Cys)
context: Confirmed in trans
|
36338958
Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing.
Frontiers in genetics, 2022
|
Main article | |
| TTN |
NM_001267550.2:c.13700A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6874C>T; p.Arg2292*
context: Compound heterozygous candidate
|
35815343
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Human mutation, 2022
|
Main article | |
| TTN |
NM_001267550.2:c.7315C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.7552C>T; p.Gln2518*
context: Compound heterozygous candidate
|
35815343
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Human mutation, 2022
|
Main article | |
| TTN |
NM_001267550.2:c.8687C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
33831308
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.
Circulation. Genomic and precision medicine, 2021
|
Supplementary material | |
| TTN |
NM_001267550.2:c.48399C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.16147C > T; p.Arg5308*
context: Compound heterozygous candidate
|
33449170
Making sense of missense variants in TTN-related congenital myopathies.
Acta neuropathologica, 2021
|
Main article | |
| TTN |
NM_001267550.2:c.8687C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
|
32466575
Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design.
Journal of cardiovascular development and disease, 2020
|
Main article | |
| TTN |
NM_001267550.2:c.66769+4_66769+7del
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with c.22789_22790delAT; p.Met7597fs
context: Compound heterozygous candidate
|
32153140
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Annals of clinical and translational neurology, 2020
|
Supplementary material | |
| TTN |
NM_001267550.2:c.26144G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.T5737A; F1913I; F1959I
context: Compound heterozygous candidate
|
32066673
Novel genetic susceptibility loci identified by family based whole exome sequencing in Han Chinese schizophrenia patients.
Translational psychiatry, 2020
|
Supplementary material | |
| TTN |
NM_001267550.2:c.49396G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.G2092A; c.G22412A; c.G43297A; +5 more
context: Compound heterozygous candidate
|
32066673
Novel genetic susceptibility loci identified by family based whole exome sequencing in Han Chinese schizophrenia patients.
Translational psychiatry, 2020
|
Supplementary material | |
| TTN |
NM_001267550.2:c.54148C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.C58456A; c.C58831A; c.C59032A; +21 more
context: Compound heterozygous candidate
|
32066673
Novel genetic susceptibility loci identified by family based whole exome sequencing in Han Chinese schizophrenia patients.
Translational psychiatry, 2020
|
Supplementary material | |