ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p15.5(chr11:196855-2116185)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 | |
HRAS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
9 | 712 | |
ANO9 | - | - |
GRCh38 GRCh37 |
37 | 93 | |
AP2A2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
34 | 80 | |
B4GALNT4 | - | - |
GRCh38 GRCh37 |
63 | 112 | |
BET1L | - | - |
GRCh38 GRCh37 |
5 | 25 | |
BRSK2 | - | - |
GRCh38 GRCh38 GRCh37 |
181 | 221 | |
CD151 | - | - |
GRCh38 GRCh37 |
153 | 200 | |
CDHR5 | - | - |
GRCh38 GRCh38 GRCh37 |
77 | 122 | |
CEND1 | - | - |
GRCh38 GRCh37 |
15 | 59 |
There are 196 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 13, 2012 | RCV000142923.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023