ClinVar Genomic variation as it relates to human health
NC_000006.11:g.(?_158532398)_(162868359_?)del
Germline
Classification
(2)
Pathogenic
criteria provided, single submitter
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 | |
AGPAT4 | - | - |
GRCh38 GRCh37 |
10 | 45 | |
AIRN | - | - |
GRCh38 GRCh37 |
- | 23 | |
DYNLT1 | - | - |
GRCh38 GRCh37 |
7 | 34 | |
EZR | - | - |
GRCh38 GRCh37 |
65 | 98 | |
FNDC1 | - | - |
GRCh38 GRCh37 |
174 | 203 | |
GTF2H5 | - | - |
GRCh38 GRCh37 |
61 | 91 | |
LINC02901 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
LPA | - | - |
GRCh38 GRCh37 |
137 | 171 |
There are 18 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV003122912.4 | |
Pathogenic (1) |
|
Jul 29, 2022 | RCV003122911.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023