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 |
1111 | 1147 | |
EMX2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
16 | 67 | |
TCF7L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
136 | 168 | |
ABLIM1 | - | - |
GRCh38 GRCh37 |
53 | 85 | |
ADRB1 | - | - |
GRCh38 GRCh37 |
35 | 64 | |
AFAP1L2 | - | - |
GRCh38 GRCh37 |
68 | 136 | |
ATRNL1 | - | - |
GRCh38 GRCh37 |
78 | 116 | |
CACUL1 | - | - |
GRCh38 GRCh37 |
13 | 45 | |
CASC2 | - | - |
GRCh38 GRCh37 |
- | 31 | |
CASP7 | - | - |
GRCh38 GRCh37 |
20 | 54 |
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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
May 12, 2011 | RCV000137511.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024