ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p21(chr2:43676810-45016061)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 | |||
SIX3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
190 | 216 | |
ABCG5 | - | - |
GRCh38 GRCh37 |
177 | 705 | |
ABCG8 | - | - |
GRCh38 GRCh37 |
705 | 768 | |
CAMKMT | - | - |
GRCh38 GRCh37 |
21 | 53 | |
DYNC2LI1 | - | - |
GRCh38 GRCh37 |
166 | 654 | |
LINC01833 | - | - | - | GRCh38 | - | 8 |
LOC110120598 | - | - | - | GRCh38 | - | 7 |
LOC110120696 | - | - | - | GRCh38 | - | 6 |
LOC121725090 | - | - | - | GRCh38 | - | 6 |
LOC122757929 | - | - | - | GRCh38 | - | 6 |
There are 26 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 | RCV000137089.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024