ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q23.1(chr16:74688486-75377736)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 | |||
BCAR1 | - | - |
GRCh38 GRCh38 GRCh37 |
111 | 158 | |
CFDP1 | - | - |
GRCh38 GRCh37 |
24 | 75 | |
CTRB1 | - | - |
GRCh38 GRCh38 GRCh37 |
31 | 76 | |
CTRB2 | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 65 | |
FA2H | - | - |
GRCh38 GRCh37 |
289 | 415 | |
LDHD | - | - |
GRCh38 GRCh37 |
49 | 94 | |
LOC100506281 | - | - | - |
GRCh38 GRCh38 |
- | 18 |
LOC108254672 | - | - | - | GRCh38 | - | 16 |
LOC112486207 | - | - | - | GRCh38 | - | 18 |
LOC121847991 | - | - | - | GRCh38 | - | 17 |
There are 50 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 16, 2013 | RCV000141922.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024