ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q35.1(chr5:169309260-169816053)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 | |||
DOCK2 | - | - |
GRCh38 GRCh37 |
962 | 1056 | |
LOC126807589 | - | - | - | GRCh38 | - | 27 |
LOC129995218 | - | - | - | GRCh38 | - | 6 |
LOC129995219 | - | - | - | GRCh38 | - | 12 |
LOC129995220 | - | - | - | GRCh38 | - | 6 |
LOC129995221 | - | - | - | GRCh38 | - | 6 |
LOC129995222 | - | - | - | GRCh38 | - | 6 |
LOC129995223 | - | - | - | GRCh38 | - | 6 |
LOC129995224 | - | - | - | GRCh38 | - | 6 |
LOC129995225 | - | - | - | GRCh38 | - | 6 |
There are 6 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) |
|
Feb 6, 2013 | RCV000141554.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024