ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p11.2(chr11:43769957-44952669)
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 | |||
ALX4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
278 | 296 | |
EXT2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
731 | 829 | |
ACCS | - | - |
GRCh38 GRCh37 |
33 | 54 | |
ACCSL | - | - | - |
GRCh38 GRCh37 |
37 | 58 |
ALKBH3 | - | - |
GRCh38 GRCh37 |
17 | 38 | |
C11orf96 | - | - | - |
GRCh38 GRCh37 |
- | 20 |
CD82 | - | - |
GRCh38 GRCh37 |
17 | 40 | |
HSD17B12 | - | - |
GRCh38 GRCh37 |
21 | 41 | |
TSPAN18 | - | - |
GRCh38 GRCh37 |
25 | 45 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV002280641.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 03, 2022