ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)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 | |||
BAG3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1091 | 1127 | |
EMX2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
15 | 63 | |
TCF7L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
127 | 159 | |
ABLIM1 | - | - |
GRCh38 GRCh37 |
38 | 70 | |
ABRAXAS2 | - | - |
GRCh38 GRCh37 |
11 | 70 | |
ACADSB | - | - |
GRCh38 GRCh37 |
302 | 358 | |
ACSL5 | - | - |
GRCh38 GRCh37 |
24 | 58 | |
ADAM12 | - | - |
GRCh38 GRCh37 |
41 | 113 | |
ADAM8 | - | - |
GRCh38 GRCh37 |
62 | 174 | |
ADGRA1 | - | - |
GRCh38 GRCh37 |
31 | 144 |
There are 671 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 | RCV000051218.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023