ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1
Germline
Classification
(1)
Likely 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 | |||
PITX3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 65 | |
ACTR1A | - | - |
GRCh38 GRCh37 |
5 | 25 | |
ARL3 | - | - |
GRCh38 GRCh37 |
130 | 152 | |
AS3MT | - | - |
GRCh38 GRCh37 |
- | 37 | |
ATP5MK | - | - |
GRCh38 GRCh37 |
7 | 34 | |
BORCS7 | - | - |
GRCh38 GRCh37 |
- | 24 | |
C10orf95 | - | - | - |
GRCh38 GRCh37 |
- | 23 |
CALHM1 | - | - |
GRCh38 GRCh37 |
30 | 57 | |
CALHM2 | - | - |
GRCh38 GRCh37 |
30 | 57 | |
CALHM3 | - | - |
GRCh38 GRCh37 |
28 | 54 |
There are 22 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 5, 2017 | RCV000683260.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022