ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)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 |
3009 | 3135 | |
HOXD13 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
120 | 152 | |
NCKAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
99 | 126 | |
TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11726 | 31215 | |
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 | |
ATF2 | - | - |
GRCh38 GRCh37 |
21 | 55 | |
ATP5MC3 | - | - |
GRCh38 GRCh37 |
18 | 52 | |
CALCRL | - | - |
GRCh38 GRCh37 |
1 | 49 |
There are 299 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 | RCV000136861.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024