ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.23(chr7:74068087-75068321)x3
Germline
Classification
(1)
Likely benign
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 | |||
ELN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
810 | 1126 | |
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 | |
LIMK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
74 | 238 | |
NCF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
4 | 117 | |
CASTOR2 | - | - |
GRCh38 GRCh37 |
- | 32 | |
CLIP2 | - | - |
GRCh38 GRCh37 |
83 | 249 | |
EIF4H | - | - |
GRCh38 GRCh37 |
3 | 166 | |
ELN-AS1 | - | - | - | GRCh38 | - | 223 |
There are 66 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 |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Sep 9, 2013 | RCV000141316.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024