ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3
Germline
Classification
(1)
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 | |||
BAG3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1111 | 1147 | |
EBF3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
224 | 326 | |
EMX2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
16 | 67 | |
TCF7L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
136 | 168 | |
SHOC2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
502 | 540 | |
ABLIM1 | - | - |
GRCh38 GRCh37 |
53 | 85 | |
ABRAXAS2 | - | - |
GRCh38 GRCh37 |
24 | 84 | |
ACADSB | - | - |
GRCh38 GRCh37 |
303 | 362 | |
ACSL5 | - | - |
GRCh38 GRCh37 |
31 | 68 | |
ADAM12 | - | - |
GRCh38 GRCh37 |
55 | 128 |
There are 143 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) |
|
Aug 15, 2014 | RCV000510813.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024