ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | 495 | |
DLG2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
76 | 113 | |
TMEM135 | No evidence available | No evidence available |
GRCh38 GRCh37 |
28 | 49 | |
CCDC81 | - | - | - |
GRCh38 GRCh37 |
41 | 67 |
CCDC83 | - | - | - |
GRCh38 GRCh37 |
22 | 51 |
CCDC89 | - | - | - |
GRCh38 GRCh37 |
27 | 52 |
CHORDC1 | - | - |
GRCh38 GRCh38 GRCh37 |
16 | 41 | |
CREBZF | - | - |
GRCh38 GRCh37 |
8 | 45 | |
CTSC | - | - |
GRCh38 GRCh37 |
423 | 504 | |
EED | - | - |
GRCh38 GRCh37 |
113 | 140 |
There are 21 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) |
|
Nov 24, 2018 | RCV001006426.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023