ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3
Germline
Classification
(1)
Likely 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 |
1106 | 1142 | |
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 | |
ACSL5 | - | - |
GRCh38 GRCh37 |
31 | 68 | |
ADD3 | - | - |
GRCh38 GRCh37 |
180 | 210 | |
ADRA2A | - | - |
GRCh38 GRCh37 |
34 | 63 | |
ADRB1 | - | - |
GRCh38 GRCh37 |
35 | 64 | |
AFAP1L2 | - | - |
GRCh38 GRCh37 |
68 | 136 |
There are 62 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV003986891.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024