ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10p12.1(chr10:25484473-26963308)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 | |||
ANKRD26 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1075 | 1153 | |
ABI1 | - | - |
GRCh38 GRCh37 |
17 | 37 | |
APBB1IP | - | - |
GRCh38 GRCh37 |
45 | 58 | |
FAM238A | - | - | - | GRCh38 | - | 3 |
FAM238B | - | - | - | GRCh38 | - | 3 |
FAM238C | - | - | - | GRCh38 | - | 4 |
GAD2 | - | - |
GRCh38 GRCh37 |
47 | 61 | |
GPR158 | - | - |
GRCh38 GRCh37 |
51 | 91 | |
LINC00836 | - | - | - | GRCh38 | - | 4 |
LINC03028 | - | - | - | GRCh38 | - | 3 |
There are 30 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053518.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024