ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p11.2(chr11:44136593-46121139)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 | |||
ALX4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
278 | 296 | |
EXT2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
730 | 828 | |
PHF21A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
235 | 253 | |
CD82 | - | - |
GRCh38 GRCh37 |
17 | 40 | |
CD82-AS1 | - | - | - | GRCh38 | - | 12 |
CHST1 | - | - |
GRCh38 GRCh37 |
11 | 25 | |
CRY2 | - | - |
GRCh38 GRCh37 |
27 | 51 | |
FREY1 | - | - | - |
GRCh38 GRCh37 |
3 | 21 |
LARGE2 | - | - |
GRCh38 GRCh37 |
9 | 25 | |
LINC02685 | - | - | - | GRCh38 | - | 6 |
There are 70 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 12, 2011 | RCV000052681.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024