ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3
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 | |
TBX20 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
533 | 554 | |
CAMK2B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
698 | 726 | |
EGFR | No evidence available | No evidence available |
GRCh38 GRCh37 |
2652 | 2999 | |
GRB10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
40 | 53 | |
ABCA13 | - | - |
GRCh38 GRCh37 |
298 | 325 | |
ADCY1 | - | - |
GRCh38 GRCh37 |
256 | 288 | |
AEBP1 | - | - |
GRCh38 GRCh37 |
504 | 532 | |
AMPH | - | - |
GRCh38 GRCh37 |
33 | 57 |
There are 628 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 | RCV000053532.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023