ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
DPF2 | - | - |
GRCh38 GRCh37 |
175 | 188 | |
EHBP1L1 | - | - |
GRCh38 GRCh37 |
124 | 139 | |
ENEMAL | - | - | - | GRCh38 | - | 1 |
FAM89B | - | - |
GRCh38 GRCh37 |
9 | 26 | |
FRMD8 | - | - |
GRCh38 GRCh37 |
38 | 84 | |
KCNK7 | - | - |
GRCh38 GRCh37 |
23 | 38 | |
LINC02736 | - | - | - | GRCh38 | - | 1 |
LOC108251793 | - | - | - | GRCh38 | - | 1 |
LOC108281135 | - | - | - | GRCh38 | - | 1 |
LOC108281161 | - | - | - | GRCh38 | - | 1 |
There are 72 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Apr 30, 2011 | RCV000141334.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023