ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1
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 | |||
CDKN1C | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1191 | 1225 | |
KCNQ1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1696 | 2580 | |
KCNQ1OT1 | Little evidence for dosage pathogenicity | Some evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1 | 653 | |
H19 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 87 | |
IGF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 175 | |
INS | No evidence available | No evidence available |
GRCh38 GRCh37 |
12 | 199 | |
OSBPL5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
72 | 102 | |
PHLDA2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
10 | 40 | |
SLC22A18 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
40 | 74 | |
ASCL2 | - | - |
GRCh38 GRCh37 |
9 | 46 |
There are 75 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 16, 2018 | RCV000137066.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023