ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1
Germline
Classification
(1)
Uncertain significance
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 |
1128 | 1164 | |
EMX2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
16 | 67 | |
CACUL1 | - | - |
GRCh38 GRCh37 |
16 | 48 | |
CASC2 | - | - |
GRCh38 GRCh37 |
- | 31 | |
DENND10 | - | - | - |
GRCh38 GRCh37 |
17 | 54 |
EIF3A | - | - |
GRCh38 GRCh37 |
82 | 117 | |
EMX2OS | - | - |
GRCh38 GRCh37 |
- | 51 | |
FAM204A | - | - | - |
GRCh38 GRCh37 |
12 | 45 |
GRK5 | - | - |
GRCh38 GRCh37 |
45 | 84 | |
INPP5F | - | - |
GRCh38 GRCh37 |
63 | 103 |
There are 14 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 27, 2020 | RCV001801230.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 17, 2023