ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)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 |
1119 | 1155 | |
EBF3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
229 | 331 | |
EMX2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
16 | 67 | |
TCF7L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
143 | 175 | |
SHOC2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
507 | 545 | |
ABLIM1 | - | - |
GRCh38 GRCh37 |
63 | 95 | |
ABRAXAS2 | - | - |
GRCh38 GRCh37 |
25 | 85 | |
ACADSB | - | - |
GRCh38 GRCh37 |
304 | 363 | |
ACSL5 | - | - |
GRCh38 GRCh37 |
36 | 76 | |
ADAM12 | - | - |
GRCh38 GRCh37 |
62 | 135 |
There are 794 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) |
|
May 27, 2010 | RCV000133688.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024