ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1
Germline
Classification
(1)
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 | |||
H19 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 88 | |
AP2A2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
41 | 81 | |
BRSK2 | - | - |
GRCh38 GRCh38 GRCh37 |
196 | 234 | |
CD151 | - | - |
GRCh38 GRCh37 |
153 | 190 | |
CEND1 | - | - |
GRCh38 GRCh37 |
19 | 59 | |
CHID1 | - | - |
GRCh38 GRCh37 |
20 | 59 | |
CRACR2B | - | - |
GRCh38 GRCh37 |
24 | 62 | |
CTSD | - | - |
GRCh38 GRCh37 |
614 | 791 | |
DUSP8 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
35 | 74 | |
FAM99A | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 11 |
There are 107 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
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052645.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024