ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q11.21(chr10:42395216-43234240)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 | |||
RET | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3446 | 3566 | |
BMS1 | - | - |
GRCh38 GRCh37 |
104 | 122 | |
CSGALNACT2 | - | - |
GRCh38 GRCh37 |
24 | 43 | |
CSGALNACT2-DT | - | - | - | GRCh38 | - | 7 |
LINC00839 | - | - | - | GRCh38 | - | 6 |
LINC01264 | - | - | - | GRCh38 | - | 6 |
LINC01518 | - | - | - | GRCh38 | - | 6 |
LINC02623 | - | - | - | GRCh38 | - | 5 |
LINC02632 | - | - | - | GRCh38 | - | 6 |
LOC105378269 | - | - | - | GRCh38 | - | 6 |
There are 33 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) |
|
Dec 22, 2010 | RCV000137126.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023