ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)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 | |||
CTNNA3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
983 | 1057 | |
EGR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
401 | 425 | |
A1CF | - | - |
GRCh38 GRCh37 |
29 | 49 | |
ADO | - | - |
GRCh38 GRCh37 |
12 | 32 | |
AGAP6 | - | - | - |
GRCh38 GRCh37 |
- | 126 |
ANK3 | - | - |
GRCh38 GRCh37 |
1235 | 1287 | |
ARID5B | - | - |
GRCh38 GRCh37 |
72 | 102 | |
ASAH2 | - | - |
GRCh38 GRCh37 |
15 | 51 | |
ASAH2B | - | - |
GRCh38 GRCh37 |
5 | 26 | |
BICC1 | - | - |
GRCh38 GRCh37 |
238 | 272 |
There are 42 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 10, 2019 | RCV001006319.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022