ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q13.4(chr11:73574925-74133379)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 | |||
C2CD3 | - | - |
GRCh38 GRCh37 |
859 | 927 | |
COA4 | - | - |
GRCh38 GRCh37 |
4 | 27 | |
DNAJB13 | - | - |
GRCh38 GRCh37 |
155 | 182 | |
FAM168A | - | - |
GRCh38 GRCh37 |
7 | 25 | |
LOC116216151 | - | - | - | GRCh38 | - | 5 |
LOC124500688 | - | - | - | GRCh38 | - | 6 |
LOC126861261 | - | - | - | GRCh38 | - | 11 |
LOC126861262 | - | - | - | GRCh38 | - | 39 |
LOC129390310 | - | - | - | GRCh38 | - | 5 |
LOC130006392 | - | - | - | GRCh38 | - | 4 |
There are 24 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) |
|
May 30, 2010 | RCV000134027.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024