ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)
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 | |
TCF7L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
134 | 166 | |
SHOC2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
501 | 538 | |
ABLIM1 | - | - |
GRCh38 GRCh37 |
53 | 85 | |
ABRAXAS2 | - | - |
GRCh38 GRCh37 |
24 | 84 | |
ACADSB | - | - |
GRCh38 GRCh37 |
302 | 359 | |
ACSL5 | - | - |
GRCh38 GRCh37 |
31 | 68 | |
ADAM12 | - | - |
GRCh38 GRCh37 |
55 | 128 | |
ADAM8 | - | - |
GRCh38 GRCh37 |
93 | 206 |
There are 138 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) |
|
Mar 1, 2022 | RCV002052891.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023