ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)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 |
123 | 155 | |
DLX1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
11 | 34 | |
DLX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
20 | 42 | |
EVX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
48 | 78 | |
HOXD9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
28 | 59 | |
SLC25A12 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
488 | 514 | |
AGPS | - | - |
GRCh38 GRCh37 |
658 | 778 | |
ATF2 | - | - |
GRCh38 GRCh37 |
26 | 60 | |
ATP5MC3 | - | - |
GRCh38 GRCh37 |
18 | 52 | |
CDCA7 | - | - |
GRCh38 GRCh37 |
224 | 249 |
There are 206 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jun 18, 2012 | RCV000139646.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024