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 |
826 | 1146 | |
GTF2I | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 182 | |
GTF2IRD1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
127 | 296 | |
LIMK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
80 | 246 | |
ABHD11 | - | - | - |
GRCh38 GRCh37 |
32 | 193 |
ABHD11-AS1 | - | - |
GRCh38 GRCh37 |
- | 160 | |
BAZ1B | - | - |
GRCh38 GRCh37 |
110 | 277 | |
BCL7B | - | - |
GRCh38 GRCh37 |
9 | 168 | |
BUD23 | - | - |
GRCh38 GRCh37 |
31 | 190 | |
CLDN3 | - | - |
GRCh38 GRCh37 |
9 | 172 |
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 |
---|---|---|---|---|
See cases
|
Pathogenic (2) |
|
Aug 12, 2011 | RCV000148080.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024