ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.3(chr2:17019-283213)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 | |||
ACP1 | - | - |
GRCh38 GRCh37 |
13 | 74 | |
ALKAL2 | - | - |
GRCh38 GRCh37 |
13 | 74 | |
FAM110C | - | - |
GRCh38 GRCh37 |
41 | 91 | |
LOC126806091 | - | - | - | GRCh38 | 1 | 37 |
LOC126806092 | - | - | - | GRCh38 | 1 | 38 |
LOC129388814 | - | - | - | GRCh38 | - | 33 |
LOC129388815 | - | - | - | GRCh38 | - | 32 |
LOC129932973 | - | - | - | GRCh38 | - | 31 |
LOC129932974 | - | - | - | GRCh38 | - | 31 |
LOC129932975 | - | - | - | GRCh38 | - | 33 |
There is 1 more gene 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) |
|
Aug 13, 2012 | RCV000143069.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024