ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1
Germline
Classification
(1)
Pathogenic
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 | |||
TCF12 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
325 | 346 | |
DMXL2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1428 | 1505 | |
ADAM10 | - | - |
GRCh38 GRCh37 |
63 | 88 | |
ALDH1A2 | - | - |
GRCh38 GRCh37 |
52 | 74 | |
ALDH1A2-AS1 | - | - | - | GRCh38 | - | 8 |
AP4E1 | - | - |
GRCh38 GRCh37 |
513 | 547 | |
AQP9 | - | - |
GRCh38 GRCh37 |
14 | 33 | |
ARPP19 | - | - |
GRCh38 GRCh37 |
1 | 22 | |
ATOSA | - | - |
GRCh38 GRCh37 |
14 | 33 | |
BCL2L10 | - | - |
GRCh38 GRCh37 |
8 | 40 |
There are 279 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051621.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023