ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_178095513)_(179914668_?)del
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11725 | 31212 | |
AGPS | - | - |
GRCh38 GRCh37 |
653 | 772 | |
CCDC141 | - | - |
GRCh38 GRCh37 |
309 | 357 | |
FKBP7 | - | - |
GRCh38 GRCh37 |
16 | 48 | |
IFT70A | - | - | - |
GRCh38 GRCh37 |
33 | 62 |
IFT70B | - | - | - |
GRCh38 GRCh37 |
47 | 78 |
NFE2L2 | - | - |
GRCh38 GRCh37 |
270 | 322 | |
OSBPL6 | - | - |
GRCh38 GRCh37 |
45 | 76 | |
PDE11A | - | - |
GRCh38 GRCh37 |
138 | 211 | |
PJVK | - | - |
GRCh38 GRCh37 |
247 | 284 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 1, 2022 | RCV003113300.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023