ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q13.31(chr22:43841416-44192863)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
LOC114004363 | - | - | - | GRCh38 | - | 20 |
LOC121627950 | - | - | - | GRCh38 | - | 23 |
LOC126863162 | - | - | - | GRCh38 | - | 20 |
LOC130067638 | - | - | - | GRCh38 | - | 22 |
LOC130067639 | - | - | - | GRCh38 | - | 22 |
LOC130067640 | - | - | - | GRCh38 | - | 22 |
LOC130067641 | - | - | - | GRCh38 | - | 22 |
LOC130067642 | - | - | - | GRCh38 | - | 22 |
LOC130067643 | - | - | - | GRCh38 | - | 22 |
LOC130067644 | - | - | - | GRCh38 | - | 22 |
There are 19 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052857.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023