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Recognized gene
TTN
Normalized c.HGVS
c.*913C>A, c.-217G>A, c.100117G>A, c.100163G>A, c.100244C>T and 44 more
Normalized p.HGVS
p.(=), p.(Ala33764Gly), p.(Ala34109Thr), p.(Arg33466Cys), p.(Arg33609Gln) and 43 more
Matching records
2599
PM3-positive records
33
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.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.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.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.51377A>G
|
Phase-unconfirmed biallelic 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.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.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.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.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.49814T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.75391delG; p.V25131Lfs*16; delG
context: Compound heterozygous candidate
|
30858397
Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.
Scientific reports, 2019
|
Main article | |
| TTN |
NM_001267550.2:c.91721A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.76373delC; p.Pro25458Glnfs*9
context: Compound heterozygous candidate
|
30858397
Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.
Scientific reports, 2019
|
Main article | |
| TTN |
NM_001267550.2:c.54380G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.76116dupT; p.N25372fs
context: Compound heterozygous candidate
|
29961767
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019
|
Main article | |
| TTN |
NM_001267550.2:c.81038G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.78095_78098delGAAA; p.R26032fs; frameshift deletion
context: Compound heterozygous candidate
|
29961767
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019
|
Main article | |
| TTN |
NM_001267550.2:c.39819_39820delinsTT
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with NM_005246830.1:c.25647; K8865N; p.K8548N
context: Compound heterozygous candidate
|
30477169
Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability.
International journal of environmental research and public health, 2018
|
Main article | |
| TTN |
NM_001267550.2:c.74063G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
29761117
Genomic analysis identifies masqueraders of full-term cerebral palsy.
Annals of clinical and translational neurology, 2018
|
Supplementary material | |
| TTN |
NM_001267550.2:c.79885G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
29761117
Genomic analysis identifies masqueraders of full-term cerebral palsy.
Annals of clinical and translational neurology, 2018
|
Supplementary material | |
| TTN |
NM_001267550.2:c.23854G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.26380T>G; c.80209T>A; p.C26737S; +1 more
context: Compound heterozygous candidate
|
29581464
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Scientific reports, 2018
|
Supplementary material | |
| TTN |
NM_001267550.2:c.104575C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.68770G>A; p.A22924T
context: Compound heterozygous candidate
|
29263846
Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.
NPJ genomic medicine, 2017
|
Main article | |