ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)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 | |||
IGF2R | No evidence available | No evidence available |
GRCh38 GRCh37 |
150 | 179 | |
ACAT2 | - | - |
GRCh38 GRCh37 |
26 | 58 | |
AIRN | - | - |
GRCh38 GRCh37 |
- | 23 | |
DYNLT1 | - | - |
GRCh38 GRCh37 |
7 | 34 | |
EZR | - | - |
GRCh38 GRCh37 |
65 | 98 | |
EZR-AS1 | - | - | - | GRCh38 | - | 12 |
FNDC1 | - | - |
GRCh38 GRCh37 |
174 | 203 | |
FNDC1-AS1 | - | - | - | GRCh38 | - | 15 |
FNDC1-IT1 | - | - | - | GRCh38 | - | 11 |
LINC02529 | - | - | - | GRCh38 | - | 11 |
There are 107 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
|
Uncertain significance (1) |
|
Oct 22, 2013 | RCV000143618.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024