ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3
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 | |||
BAG3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1122 | 1158 | |
EMX2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
16 | 67 | |
TCF7L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
146 | 178 | |
BTRC | No evidence available | No evidence available |
GRCh38 GRCh37 |
73 | 132 | |
FBXW4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
71 | 150 | |
PITX3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 73 | |
POLL | No evidence available | No evidence available |
GRCh38 GRCh37 |
60 | 113 | |
SHOC2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
511 | 549 | |
ABLIM1 | - | - |
GRCh38 GRCh37 |
63 | 95 | |
ABRAXAS2 | - | - |
GRCh38 GRCh37 |
25 | 85 |
There are 193 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240457.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023