ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
APTR | - | - | GRCh38 | - | 27 | |
CCDC146 | - | - |
GRCh38 GRCh37 |
52 | 83 | |
DDX3ILA1 | - | - | - | GRCh38 | - | 8 |
DTX2 | - | - |
GRCh38 GRCh38 GRCh37 |
59 | 87 | |
FGL2 | - | - |
GRCh38 GRCh37 |
- | 29 | |
GSAP | - | - |
GRCh38 GRCh37 |
49 | 71 | |
LINC03009 | - | - | - |
GRCh38 GRCh38 |
- | 34 |
LOC101927243 | - | - | - | GRCh38 | - | 11 |
LOC108228209 | - | - | - |
GRCh38 GRCh38 |
- | 21 |
LOC123956172 | - | - | - | GRCh38 | - | 11 |
There are 37 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 10, 2011 | RCV000137450.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024