ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q12.2-12.3(chr13:28669064-31367407)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
ALOX5AP | - | - |
GRCh38 GRCh37 |
10 | 56 | |
FLT1 | - | - |
GRCh38 GRCh37 |
85 | 134 | |
FLT3 | - | - |
GRCh38 GRCh37 |
212 | 254 | |
HMGB1 | - | - |
GRCh38 GRCh37 |
21 | 65 | |
KATNAL1 | - | - |
GRCh38 GRCh37 |
22 | 60 | |
LINC00427 | - | - | - |
GRCh38 GRCh37 |
- | 40 |
MTUS2 | - | - |
GRCh38 GRCh37 |
33 | 83 | |
PAN3 | - | - |
GRCh38 GRCh37 |
33 | 78 | |
POMP | - | - |
GRCh38 GRCh37 |
109 | 149 | |
SLC46A3 | - | - |
GRCh38 GRCh37 |
29 | 68 |
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 |
---|---|---|---|---|
13q12.2q12.3 deletion
|
Likely pathogenic (1) |
|
Jan 11, 2021 | RCV001579311.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023