ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)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 | |||
GLI3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1099 | 1128 | |
CDK13 | Some evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
662 | 782 | |
CAMK2B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
698 | 726 | |
ADCY1 | - | - |
GRCh38 GRCh37 |
256 | 288 | |
AEBP1 | - | - |
GRCh38 GRCh37 |
504 | 532 | |
BLVRA | - | - |
GRCh38 GRCh37 |
44 | 69 | |
C7orf25 | - | - | - |
GRCh38 GRCh37 |
3 | 31 |
CCM2 | - | - |
GRCh38 GRCh37 |
293 | 344 | |
CDK13-DT | - | - | - | GRCh38 | - | 11 |
COA1 | - | - |
GRCh38 GRCh37 |
7 | 38 |
There are 204 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053132.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023