ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
958 | 1027 | |
EGR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
399 | 423 | |
A1CF | - | - |
GRCh38 GRCh37 |
28 | 48 | |
ADO | - | - |
GRCh38 GRCh37 |
11 | 31 | |
AGAP6 | - | - | - |
GRCh38 GRCh37 |
- | 122 |
ANK3 | - | - |
GRCh38 GRCh37 |
1174 | 1225 | |
ARID5B | - | - |
GRCh38 GRCh37 |
64 | 93 | |
ASAH2 | - | - |
GRCh38 GRCh37 |
15 | 51 | |
ASAH2B | - | - |
GRCh38 GRCh37 |
4 | 25 | |
ATOH7 | - | - |
GRCh38 GRCh37 |
97 | 152 |
There are 43 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) |
|
Apr 14, 2023 | RCV003483092.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024