ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p11.2(chr2:85401388-85615492)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 | |||
ELMOD3 | - | - |
GRCh38 GRCh38 GRCh37 |
152 | 171 | |
RETSAT | - | - |
GRCh38 GRCh38 GRCh37 |
54 | 72 | |
TCF7L1 | - | - |
GRCh38 GRCh38 GRCh37 |
48 | 66 | |
TGOLN2 | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 50 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 2, 2019 | RCV001005291.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022