ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1
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 | |||
HOXD13 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
120 | 152 | |
EVX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
40 | 69 | |
HOXD9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
27 | 58 | |
AGPS | - | - |
GRCh38 GRCh37 |
653 | 772 | |
HNRNPA3 | - | - |
GRCh38 GRCh37 |
3 | 33 | |
HOXD1 | - | - |
GRCh38 GRCh37 |
21 | 49 | |
HOXD10 | - | - |
GRCh38 GRCh37 |
76 | 106 | |
HOXD11 | - | - |
GRCh38 GRCh37 |
30 | 62 | |
HOXD12 | - | - |
GRCh38 GRCh37 |
24 | 56 | |
HOXD3 | - | - |
GRCh38 GRCh37 |
27 | 62 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 26, 2017 | RCV000849015.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022