ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)
Germline
Classification
(1)
Likely pathogenic
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 | |||
BICDL1 | - | - |
GRCh38 GRCh37 |
2 | 13 | |
CCDC60 | - | - | - |
GRCh38 GRCh37 |
2 | 53 |
CIT | - | - |
GRCh38 GRCh37 |
563 | 587 | |
COQ5 | - | - |
GRCh38 GRCh37 |
33 | 48 | |
COX6A1 | - | - |
GRCh38 GRCh37 |
98 | 112 | |
DYNLL1 | - | - |
GRCh38 GRCh37 |
- | 14 | |
GATC | - | - |
GRCh38 GRCh37 |
7 | 31 | |
GCN1 | - | - |
GRCh38 GRCh37 |
141 | 154 | |
HSPB8 | - | - |
GRCh38 GRCh37 |
238 | 249 | |
MSI1 | - | - |
GRCh38 GRCh37 |
13 | 26 |
There are 16 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 1, 2022 | RCV002053027.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022