ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q33.1(chr2:201674160-202308811)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 | |||
ALS2 | - | - |
GRCh38 GRCh37 |
1009 | 1053 | |
CDK15 | - | - |
GRCh38 GRCh37 |
23 | 58 | |
FZD7 | - | - |
GRCh38 GRCh37 |
28 | 60 | |
KIAA2012 | - | - | - | GRCh38 | 1 | 14 |
KIAA2012-AS1 | - | - | - | GRCh38 | - | 13 |
LOC120977019 | - | - | - | GRCh38 | - | 14 |
LOC122861278 | - | - | - | GRCh38 | - | 14 |
LOC126806472 | - | - | - | GRCh38 | - | 14 |
LOC129388982 | - | - | - | GRCh38 | - | 15 |
LOC129935418 | - | - | - | GRCh38 | - | 15 |
There are 17 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 18, 2010 | RCV000134147.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024