ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)
Germline
Classification
(1)
Likely 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 | |||
FZD4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
75 | 492 | |
DLG2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
66 | 103 | |
TMEM135 | No evidence available | No evidence available |
GRCh38 GRCh37 |
25 | 46 | |
C11orf54 | - | - |
GRCh38 GRCh37 |
- | 23 | |
CCDC81 | - | - | - |
GRCh38 GRCh37 |
29 | 55 |
CCDC83 | - | - | - |
GRCh38 GRCh37 |
15 | 44 |
CCDC89 | - | - | - |
GRCh38 GRCh37 |
20 | 45 |
CEP295 | - | - |
GRCh38 GRCh37 |
139 | 162 | |
CHORDC1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 38 | |
CREBZF | - | - |
GRCh38 GRCh37 |
5 | 36 |
There are 31 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 1, 2022 | RCV002052942.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023