ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p15.5(chr11:2149352-2467542)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 | |||
KCNQ1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1720 | 2663 | |
IGF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
6 | 194 | |
INS | No evidence available | No evidence available |
GRCh38 GRCh37 |
12 | 201 | |
ASCL2 | - | - |
GRCh38 GRCh37 |
15 | 54 | |
C11orf21 | - | - |
GRCh38 GRCh37 |
3 | 52 | |
CD81 | - | - |
GRCh38 GRCh37 |
210 | 274 | |
CD81-AS1 | - | - | - | GRCh38 | - | 27 |
INS-IGF2 | - | - | - |
GRCh38 GRCh37 |
- | 329 |
LOC106799843 | - | - | - | GRCh38 | - | 13 |
LOC109623489 | - | - | - | GRCh38 | - | 17 |
There are 20 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) |
|
Apr 14, 2011 | RCV000137405.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024