ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q13.1(chr11:65520831-65695349)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 | |||
EHBP1L1 | - | - |
GRCh38 GRCh37 |
112 | 127 | |
FAM89B | - | - |
GRCh38 GRCh37 |
9 | 26 | |
KCNK7 | - | - |
GRCh38 GRCh37 |
21 | 36 | |
LOC121832793 | - | - | - | GRCh38 | - | 158 |
LOC124500670 | - | - | - | GRCh38 | - | 2 |
LOC130006026 | - | - | - | GRCh38 | - | 6 |
LOC130006027 | - | - | - | GRCh38 | - | 45 |
LOC130006028 | - | - | - | GRCh38 | - | 14 |
LOC130006029 | - | - | - | GRCh38 | - | 50 |
LOC130006030 | - | - | - | GRCh38 | - | 38 |
There are 37 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 30, 2011 | RCV000141174.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023