ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q21(chr6:110419878-111698827)x1
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 | |||
AMD1 | - | - |
GRCh38 GRCh37 |
7 | 40 | |
CDC40 | - | - |
GRCh38 GRCh37 |
16 | 42 | |
CDK19 | - | - |
GRCh38 GRCh37 |
38 | 71 | |
DDO | - | - |
GRCh38 GRCh37 |
29 | 55 | |
GTF3C6 | - | - |
GRCh38 GRCh37 |
6 | 32 | |
METTL24 | - | - | - |
GRCh38 GRCh37 |
23 | 48 |
MFSD4B | - | - |
GRCh38 GRCh37 |
6 | 33 | |
REV3L | - | - |
GRCh38 GRCh37 |
240 | 271 | |
RPF2 | - | - |
GRCh38 GRCh37 |
23 | 48 | |
SLC16A10 | - | - |
GRCh38 GRCh37 |
27 | 58 |
There are 2 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) |
|
Dec 21, 2017 | RCV000682707.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022