ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q23.2(chr17:61331901-61424019)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
TBX2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
91 | 116 | |
BCAS3 | - | - |
GRCh38 GRCh37 |
61 | 117 | |
LINC02875 | - | - | - |
GRCh38 GRCh37 |
2 | 27 |
LOC101927855 | - | - | - | GRCh38 | - | 6 |
LOC109280161 | - | - | - | GRCh38 | - | 6 |
LOC121603768 | - | - | - | GRCh38 | - | 6 |
LOC125177525 | - | - | - | GRCh38 | - | 6 |
LOC130061355 | - | - | - | GRCh38 | - | 6 |
LOC130061356 | - | - | - | GRCh38 | - | 6 |
LOC130061357 | - | - | - | GRCh38 | - | 6 |
There are 3 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 27, 2013 | RCV000140882.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024