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 |
2816 | 2950 | |
HOXD13 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
116 | 154 | |
NCKAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
92 | 123 | |
TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11660 | 30937 | |
EVX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
33 | 66 | |
HOXD9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
21 | 58 | |
AGPS | - | - |
GRCh38 GRCh37 |
650 | 772 | |
ATF2 | - | - |
GRCh38 GRCh37 |
20 | 58 | |
ATP5MC3 | - | - |
GRCh38 GRCh37 |
11 | 49 | |
CALCRL | - | - |
GRCh38 GRCh37 |
1 | 50 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 14, 2010 | RCV000136861.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023