ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)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 | |||
GNAI1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
63 | 81 | |
GTF2I | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 177 | |
GTF2IRD1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
119 | 286 | |
GTF2IRD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 78 | |
NCF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
4 | 116 | |
APTR | - | - | GRCh38 | - | 27 | |
CACNA2D1 | - | - |
GRCh38 GRCh37 |
823 | 904 | |
CACNA2D1-AS1 | - | - | - | GRCh38 | - | 60 |
CASTOR2 | - | - |
GRCh38 GRCh37 |
- | 32 | |
CCDC146 | - | - |
GRCh38 GRCh37 |
52 | 83 |
There are 186 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) |
|
Feb 4, 2013 | RCV000142381.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023