ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p15.5(chr11:1436158-2321134)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 | |||
H19 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 89 | |
IGF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 187 | |
INS | No evidence available | No evidence available |
GRCh38 GRCh37 |
12 | 200 | |
ASCL2 | - | - |
GRCh38 GRCh37 |
15 | 54 | |
BRSK2 | - | - |
GRCh38 GRCh38 GRCh37 |
205 | 244 | |
C11orf21 | - | - |
GRCh38 GRCh37 |
3 | 52 | |
CTSD | - | - |
GRCh38 GRCh37 |
614 | 792 | |
DUSP8 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
42 | 82 | |
IFITM10 | - | - |
GRCh38 GRCh38 GRCh37 |
25 | 66 | |
IGF2-AS | - | - |
GRCh38 GRCh37 |
- | 50 |
There are 14 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 19, 2019 | RCV001259591.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024