ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q23.3-24.1(chr11:119688645-122861792)x3
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 | |||
ARHGEF12 | - | - |
GRCh38 GRCh37 |
66 | 106 | |
BLID | - | - |
GRCh38 GRCh37 |
- | 56 | |
BSX | - | - |
GRCh38 GRCh37 |
17 | 66 | |
CRTAM | - | - |
GRCh38 GRCh37 |
20 | 72 | |
GRIK4 | - | - |
GRCh38 GRCh37 |
54 | 124 | |
JHY | - | - |
GRCh38 GRCh37 |
5 | 56 | |
MIR100 | - | - |
GRCh38 GRCh37 |
- | 47 | |
MIR125B1 | - | - |
GRCh38 GRCh37 |
- | 47 | |
MIRLET7A2 | - | - |
GRCh38 GRCh37 |
- | 47 | |
OAF | - | - | - |
GRCh38 GRCh37 |
18 | 57 |
There are 8 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 21, 2022 | RCV003484853.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024