ClinVar Genomic variation as it relates to human health
NC_000012.11:g.113120652_115362584del
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 | |||
TBX3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
467 | 591 | |
TBX5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
689 | 708 | |
RPH3A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
51 | 59 | |
CFAP73 | - | - | - |
GRCh38 GRCh37 |
19 | 43 |
DDX54 | - | - |
GRCh38 GRCh37 |
98 | 125 | |
DTX1 | - | - |
GRCh38 GRCh37 |
41 | 49 | |
IQCD | - | - | - |
GRCh38 GRCh37 |
24 | 34 |
LHX5 | - | - |
GRCh38 GRCh37 |
23 | 31 | |
OAS1 | - | - |
GRCh38 GRCh37 |
254 | 295 | |
OAS2 | - | - |
GRCh38 GRCh37 |
43 | 62 |
There are 9 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) |
|
Apr 29, 2021 | RCV001844324.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024