ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p23.2(chr2:28557445-29437643)x3
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 | |||
ALK | No evidence available | No evidence available |
GRCh38 GRCh37 |
5119 | 5159 | |
CLIP4 | - | - | - |
GRCh38 GRCh37 |
39 | 68 |
LOC100505774 | - | - | - | GRCh38 | - | 8 |
LOC108281152 | - | - | - | GRCh38 | - | 7 |
LOC112840923 | - | - | - | GRCh38 | - | 7 |
LOC121725086 | - | - | - | GRCh38 | - | 7 |
LOC122756682 | - | - | - | GRCh38 | - | 7 |
LOC122756683 | - | - | - | GRCh38 | - | 11 |
LOC129388837 | - | - | - | GRCh38 | - | 8 |
LOC129933397 | - | - | - | GRCh38 | - | 7 |
There are 29 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
|
Uncertain significance (1) |
|
Apr 16, 2013 | RCV000143354.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024