ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1
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 | |||
GLI3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1131 | 1160 | |
CDK13 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
688 | 813 | |
TBX20 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
558 | 579 | |
CAMK2B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
708 | 737 | |
AEBP1 | - | - |
GRCh38 GRCh37 |
507 | 536 | |
AMPH | - | - |
GRCh38 GRCh37 |
51 | 75 | |
ANLN | - | - |
GRCh38 GRCh37 |
414 | 443 | |
AOAH | - | - |
GRCh38 GRCh37 |
48 | 69 | |
BBS9 | - | - |
GRCh38 GRCh37 |
1058 | 1094 | |
BLVRA | - | - |
GRCh38 GRCh37 |
49 | 75 |
There are 46 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000446955.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024