ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)
Germline
Classification
(1)
Likely 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 | |||
ELN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
808 | 1123 | |
GTF2I | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 173 | |
GTF2IRD1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
108 | 274 | |
GTF2IRD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 77 | |
LIMK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
68 | 231 | |
NCF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
4 | 108 | |
ABHD11 | - | - | - |
GRCh38 GRCh37 |
21 | 179 |
ABHD11-AS1 | - | - |
GRCh38 GRCh37 |
- | 157 | |
APTR | - | - | GRCh38 | - | 24 | |
BAZ1B | - | - |
GRCh38 GRCh37 |
84 | 247 |
There are 277 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 4, 2013 | RCV000143454.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023