ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3
Germline
Classification
(1)
Likely 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 |
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 | |
ADRB1 | - | - |
GRCh38 GRCh37 |
30 | 59 | |
AFAP1L2 | - | - |
GRCh38 GRCh37 |
53 | 121 | |
ATRNL1 | - | - |
GRCh38 GRCh37 |
58 | 96 | |
CACUL1 | - | - |
GRCh38 GRCh37 |
9 | 41 | |
CASC2 | - | - |
GRCh38 GRCh37 |
- | 31 | |
CASP7 | - | - |
GRCh38 GRCh37 |
19 | 52 |
There are 240 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
May 12, 2011 | RCV000137511.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023