ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)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 |
731 | 829 | |
PHF21A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
235 | 253 | |
ACCS | - | - |
GRCh38 GRCh37 |
33 | 54 | |
ACCSL | - | - | - |
GRCh38 GRCh37 |
37 | 58 |
ALKBH3 | - | - |
GRCh38 GRCh37 |
17 | 38 | |
ALKBH3-AS1 | - | - | - | GRCh38 | - | 10 |
AMBRA1 | - | - |
GRCh38 GRCh37 |
65 | 98 | |
API5 | - | - |
GRCh38 GRCh37 |
8 | 23 | |
ARHGAP1 | - | - |
GRCh38 GRCh37 |
29 | 53 |
There are 216 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 | RCV000052679.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023