ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3
Germline
Classification
(1)
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 |
817 | 1137 | |
GTF2I | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 179 | |
GTF2IRD1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
119 | 288 | |
LIMK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
76 | 242 | |
NCF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
4 | 117 | |
ABHD11 | - | - | - |
GRCh38 GRCh37 |
28 | 189 |
ABHD11-AS1 | - | - |
GRCh38 GRCh37 |
- | 160 | |
BAZ1B | - | - |
GRCh38 GRCh37 |
103 | 269 | |
BCL7B | - | - |
GRCh38 GRCh37 |
9 | 168 | |
BUD23 | - | - |
GRCh38 GRCh37 |
25 | 184 |
There are 123 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 (1) |
|
Jul 16, 2012 | RCV000139121.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024