ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1
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 | |||
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 | |
ANKRD42 | - | - |
GRCh38 GRCh37 |
28 | 46 | |
CCDC81 | - | - | - |
GRCh38 GRCh37 |
41 | 67 |
CCDC83 | - | - | - |
GRCh38 GRCh37 |
22 | 51 |
CCDC89 | - | - | - |
GRCh38 GRCh37 |
27 | 52 |
CCDC90B | - | - | - |
GRCh38 GRCh37 |
21 | 38 |
CREBZF | - | - |
GRCh38 GRCh37 |
8 | 45 | |
CTSC | - | - |
GRCh38 GRCh37 |
424 | 505 |
There are 15 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) |
|
May 10, 2022 | RCV002474501.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022