ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p14.1(chr7:41084766-42566517)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 |
1099 | 1128 | |
INHBA | - | - |
GRCh38 GRCh37 |
8 | 38 | |
INHBA-AS1 | - | - | - | GRCh38 | - | 13 |
LINC01449 | - | - | - | GRCh38 | - | 11 |
LOC110120590 | - | - | - | GRCh38 | - | 10 |
LOC110121030 | - | - | - | GRCh38 | - | 10 |
LOC110121152 | - | - | - | GRCh38 | - | 11 |
LOC121740679 | - | - | - | GRCh38 | - | 11 |
LOC123956137 | - | - | - | GRCh38 | - | 9 |
LOC126860012 | - | - | - | GRCh38 | - | 11 |
There are 12 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) |
|
Oct 19, 2010 | RCV000135844.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023