ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)
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 | |||
TBX5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
675 | 693 | |
CFAP73 | - | - | - |
GRCh38 GRCh37 |
16 | 39 |
DDX54 | - | - |
GRCh38 GRCh37 |
88 | 114 | |
DTX1 | - | - |
GRCh38 GRCh37 |
35 | 43 | |
IQCD | - | - | - |
GRCh38 GRCh37 |
19 | 29 |
LHX5 | - | - |
GRCh38 GRCh37 |
19 | 27 | |
OAS2 | - | - |
GRCh38 GRCh37 |
37 | 56 | |
PLBD2 | - | - | - |
GRCh38 GRCh37 |
23 | 40 |
RASAL1 | - | - |
GRCh38 GRCh37 |
79 | 86 | |
RBM19 | - | - |
GRCh38 GRCh37 |
70 | 77 |
There are 5 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) |
|
Mar 1, 2022 | RCV002053019.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022