ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)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 |
335 | 357 | |
ADAM10 | - | - |
GRCh38 GRCh37 |
70 | 95 | |
ALDH1A2 | - | - |
GRCh38 GRCh37 |
58 | 80 | |
ANXA2 | - | - |
GRCh38 GRCh37 |
8 | 27 | |
AQP9 | - | - |
GRCh38 GRCh37 |
19 | 38 | |
BNIP2 | - | - |
GRCh38 GRCh37 |
22 | 41 | |
CCNB2 | - | - |
GRCh38 GRCh37 |
27 | 44 | |
CCPG1 | - | - |
GRCh38 GRCh37 |
- | 92 | |
CGNL1 | - | - |
GRCh38 GRCh37 |
156 | 175 | |
DNAAF4 | - | - |
GRCh38 GRCh37 |
19 | 307 |
There are 27 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 1, 2023 | RCV003483234.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024