ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_178257518)_(179914668_?)del
Germline
Classification
(1)
Pathogenic
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 |
11779 | 31303 | |
AGPS | - | - |
GRCh38 GRCh37 |
655 | 775 | |
CCDC141 | - | - |
GRCh38 GRCh37 |
310 | 359 | |
FKBP7 | - | - |
GRCh38 GRCh37 |
16 | 52 | |
IFT70A | - | - |
GRCh38 GRCh37 |
33 | 63 | |
IFT70B | - | - |
GRCh38 GRCh37 |
47 | 79 | |
OSBPL6 | - | - |
GRCh38 GRCh37 |
45 | 77 | |
PDE11A | - | - |
GRCh38 GRCh37 |
138 | 212 | |
PJVK | - | - |
GRCh38 GRCh37 |
247 | 288 | |
PLEKHA3 | - | - |
GRCh38 GRCh37 |
7 | 45 |
There are 2 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 2, 2023 | RCV004583757.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024