ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3
Germline
Classification
(2)
Pathogenic
criteria provided, multiple submitters, no conflicts
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 | |
LIMK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
74 | 238 | |
ABHD11 | - | - | - |
GRCh38 GRCh37 |
28 | 187 |
ABHD11-AS1 | - | - |
GRCh38 GRCh37 |
- | 158 | |
BAZ1B | - | - |
GRCh38 GRCh37 |
103 | 267 | |
BCL7B | - | - |
GRCh38 GRCh37 |
9 | 166 | |
BUD23 | - | - |
GRCh38 GRCh37 |
25 | 182 | |
CLDN3 | - | - |
GRCh38 GRCh37 |
7 | 168 |
There are 119 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 (2) |
|
Aug 12, 2011 | RCV000148080.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023