ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1
Germline
Classification
(1)
Pathogenic
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 | |||
SATB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
638 | 816 | |
ANKRD44 | - | - | - |
GRCh38 GRCh37 |
56 | 95 |
ANKRD44-AS1 | - | - | - | GRCh38 | - | 13 |
ANKRD44-IT1 | - | - | - | GRCh38 | - | 13 |
BOLL | - | - |
GRCh38 GRCh37 |
14 | 50 | |
COQ10B | - | - |
GRCh38 GRCh37 |
12 | 48 | |
FTCDNL1 | - | - |
GRCh38 GRCh37 |
1 | 34 | |
HSPD1 | - | - |
GRCh38 GRCh37 |
271 | 315 | |
HSPE1 | - | - |
GRCh38 GRCh37 |
- | 41 | |
HSPE1-MOB4 | - | - | - | GRCh38 | - | 21 |
There are 61 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 27, 2010 | RCV000142513.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024