ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868)
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 | |||
BTRC | No evidence available | No evidence available |
GRCh38 GRCh37 |
61 | 113 | |
FBXW4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
64 | 132 | |
LBX1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
13 | 47 | |
POLL | No evidence available | No evidence available |
GRCh38 GRCh37 |
45 | 91 | |
DPCD | - | - |
GRCh38 GRCh37 |
7 | 57 | |
FGF8 | - | - |
GRCh38 GRCh37 |
90 | 111 | |
KAZALD1 | - | - |
GRCh38 GRCh37 |
26 | 43 | |
NPM3 | - | - |
GRCh38 GRCh37 |
10 | 28 | |
OGA | - | - |
GRCh38 GRCh37 |
12 | 30 | |
TLX1 | - | - |
GRCh38 GRCh37 |
- | 34 |
There is 1 more gene 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) |
|
Nov 1, 2018 | RCV000767666.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022