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 |
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 | 116 | |
ABHD11 | - | - | - |
GRCh38 GRCh37 |
28 | 187 |
ABHD11-AS1 | - | - |
GRCh38 GRCh37 |
- | 158 | |
APTR | - | - | GRCh38 | - | 27 | |
BAZ1B | - | - |
GRCh38 GRCh37 |
103 | 267 |
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 | RCV000143454.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024