ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)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 |
1105 | 1141 | |
EMX2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
16 | 66 | |
ABRAXAS2 | - | - |
GRCh38 GRCh37 |
24 | 84 | |
ACADSB | - | - |
GRCh38 GRCh37 |
302 | 359 | |
ADAM12 | - | - |
GRCh38 GRCh37 |
55 | 128 | |
ADAM8 | - | - |
GRCh38 GRCh37 |
93 | 206 | |
ADGRA1 | - | - |
GRCh38 GRCh37 |
45 | 159 | |
ARMS2 | - | - |
GRCh38 GRCh37 |
29 | 89 | |
ATE1 | - | - |
GRCh38 GRCh37 |
37 | 84 | |
BCCIP | - | - |
GRCh38 GRCh37 |
13 | 274 |
There are 102 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 20, 2019 | RCV001537903.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023