ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p15.1(chr11:17905089-19674505)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 | |||
CSRP3 | - | - |
GRCh38 GRCh37 |
414 | 451 | |
CSRP3-AS1 | - | - | - | GRCh38 | - | 81 |
E2F8 | - | - |
GRCh38 GRCh37 |
- | 72 | |
GTF2H1 | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 44 | |
HPS5 | - | - |
GRCh38 GRCh38 GRCh37 |
951 | 1000 | |
IGSF22 | - | - | - |
GRCh38 GRCh37 |
5 | 105 |
IGSF22-AS1 | - | - | - | GRCh38 | - | 109 |
LDHA | - | - |
GRCh38 GRCh38 GRCh37 |
201 | 220 | |
LDHAL6A | - | - |
GRCh38 GRCh37 |
15 | 33 | |
LDHC | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 37 |
There are 78 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052646.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023