ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q21.3(chr15:55772371-57880518)x1
Germline
Classification
(1)
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 |
355 | 377 | |
CGNL1 | - | - |
GRCh38 GRCh37 |
172 | 191 | |
DNAAF4 | - | - |
GRCh38 GRCh37 |
21 | 313 | |
MNS1 | - | - |
GRCh38 GRCh37 |
5 | 71 | |
NEDD4 | - | - |
GRCh38 GRCh37 |
113 | 131 | |
PRTG | - | - |
GRCh38 GRCh37 |
66 | 91 | |
PYGO1 | - | - |
GRCh38 GRCh37 |
20 | 46 | |
RFX7 | - | - |
GRCh38 GRCh37 |
146 | 164 | |
TEX9 | - | - | - |
GRCh38 GRCh37 |
20 | 86 |
ZNF280D | - | - | - |
GRCh38 GRCh37 |
53 | 70 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 1, 2021 | RCV001827704.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 17, 2022