ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)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 | |||
PAX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
430 | 451 | |
TCF7L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
126 | 158 | |
BTRC | No evidence available | No evidence available |
GRCh38 GRCh37 |
62 | 114 | |
FBXW4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
64 | 132 | |
LBX1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
13 | 47 | |
PITX3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 63 | |
POLL | No evidence available | No evidence available |
GRCh38 GRCh37 |
45 | 91 | |
SHOC2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
493 | 531 | |
ABCC2 | - | - |
GRCh38 GRCh37 |
924 | 1084 | |
ABLIM1 | - | - |
GRCh38 GRCh37 |
38 | 70 |
There are 813 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050747.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023