ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q21.3(chr15:57518653-58974175)x3
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 | |||
TCF12 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
335 | 357 | |
ADAM10 | - | - |
GRCh38 GRCh37 |
70 | 95 | |
ALDH1A2 | - | - |
GRCh38 GRCh37 |
58 | 80 | |
AQP9 | - | - |
GRCh38 GRCh37 |
19 | 38 | |
CGNL1 | - | - |
GRCh38 GRCh37 |
156 | 175 | |
LIPC | - | - |
GRCh38 GRCh37 |
259 | 282 | |
MYZAP | - | - |
GRCh38 GRCh37 |
- | 45 | |
POLR2M | - | - |
GRCh38 GRCh37 |
- | 62 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 21, 2014 | RCV000511567.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024