ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.33(chr22:50893448-51060012)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 | |||
ADM2 | - | - |
GRCh38 GRCh37 |
17 | 171 | |
CHKB | - | - |
GRCh38 GRCh37 |
3 | 541 | |
CPT1B | - | - |
GRCh38 GRCh37 |
- | 230 | |
KLHDC7B | - | - | - |
GRCh38 GRCh37 |
28 | 201 |
LMF2 | - | - | - |
GRCh38 GRCh37 |
96 | 250 |
MAPK8IP2 | - | - |
GRCh38 GRCh37 |
27 | 182 | |
MIOX | - | - |
GRCh38 GRCh37 |
27 | 181 | |
NCAPH2 | - | - |
GRCh38 GRCh37 |
48 | 559 | |
ODF3B | - | - | - |
GRCh38 GRCh37 |
1 | 56 |
SBF1 | - | - |
GRCh38 GRCh37 |
1757 | 1908 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 29, 2018 | RCV001007195.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022