ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)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 | |||
COL3A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2994 | 3119 | |
HOXD13 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
116 | 148 | |
NCKAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
92 | 119 | |
TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11689 | 31012 | |
DLX1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
6 | 29 | |
DLX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
14 | 36 | |
EVX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
33 | 62 | |
HOXD9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
21 | 52 | |
SLC25A12 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
480 | 506 | |
AGPS | - | - |
GRCh38 GRCh37 |
650 | 768 |
There are 409 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) |
|
Oct 14, 2010 | RCV000136850.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023