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 |
3161 | 3291 | |
HOXD13 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
135 | 167 | |
NCKAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
136 | 163 | |
TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12130 | 32694 | |
DLX1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
13 | 36 | |
DLX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
31 | 53 | |
EVX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
55 | 85 | |
HOXD9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
38 | 69 | |
SLC25A12 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
494 | 520 | |
AGPS | - | - |
GRCh38 GRCh37 |
661 | 782 |
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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Oct 14, 2010 | RCV000136850.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024