ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q34.1(chr4:174309939-174880610)x1
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 | |||
CEP44 | - | - |
GRCh38 GRCh37 |
23 | 95 | |
GLRA3 | - | - |
GRCh38 GRCh37 |
18 | 97 | |
HPGD | - | - |
GRCh38 GRCh37 |
173 | 245 | |
LOC101928551 | - | - | - | GRCh38 | - | 30 |
LOC114004384 | - | - | - | GRCh38 | - | 30 |
LOC123493241 | - | - | - | GRCh38 | - | 31 |
LOC129389249 | - | - | - | GRCh38 | - | 31 |
LOC129993400 | - | - | - | GRCh38 | - | 30 |
LOC129993401 | - | - | - | GRCh38 | - | 30 |
MIR4276 | - | - | GRCh38 | - | 30 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Nov 4, 2011 | RCV000137931.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024