ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)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 |
621 | 797 | |
ANKRD44 | - | - | - |
GRCh38 GRCh37 |
51 | 90 |
AOX1 | - | - |
GRCh38 GRCh37 |
56 | 92 | |
BOLL | - | - |
GRCh38 GRCh37 |
12 | 48 | |
BZW1 | - | - |
GRCh38 GRCh37 |
18 | 51 | |
C2orf66 | - | - | - |
GRCh38 GRCh37 |
- | 35 |
C2orf69 | - | - |
GRCh38 GRCh37 |
16 | 52 | |
CCDC150 | - | - | - |
GRCh38 GRCh37 |
58 | 101 |
CFLAR | - | - |
GRCh38 GRCh37 |
10 | 49 | |
CLK1 | - | - |
GRCh38 GRCh37 |
24 | 61 |
There are 26 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 24, 2018 | RCV000682162.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022