ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.1(chr2:8397352-9440634)x4
Germline
Classification
(1)
Uncertain significance
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 | |||
ASAP2 | - | - |
GRCh38 GRCh37 |
66 | 94 | |
CPSF3 | - | - |
GRCh38 GRCh37 |
21 | 47 | |
ID2 | - | - |
GRCh38 GRCh37 |
10 | 35 | |
ID2-AS1 | - | - | - | GRCh38 | - | 13 |
ITGB1BP1 | - | - |
GRCh38 GRCh37 |
9 | 32 | |
KIDINS220 | - | - |
GRCh38 GRCh37 |
939 | 963 | |
LINC01814 | - | - | - | GRCh38 | - | 13 |
LOC105373414 | - | - | - | GRCh38 | - | 13 |
LOC110121131 | - | - | - | GRCh38 | - | 13 |
LOC112841600 | - | - | - | GRCh38 | - | 13 |
There are 41 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jul 18, 2014 | RCV000139899.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024