ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1
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 | |||
CCDC60 | - | - | - |
GRCh38 GRCh37 |
2 | 53 |
FBXO21 | - | - |
GRCh38 GRCh37 |
25 | 43 | |
FBXW8 | - | - |
GRCh38 GRCh37 |
29 | 64 | |
HRK | - | - |
GRCh38 GRCh37 |
7 | 26 | |
HSPB8 | - | - |
GRCh38 GRCh37 |
238 | 249 | |
KSR2 | - | - |
GRCh38 GRCh37 |
184 | 199 | |
MAP1LC3B2 | - | - |
GRCh38 GRCh37 |
9 | 26 | |
NOS1 | - | - |
GRCh38 GRCh37 |
135 | 158 | |
PEBP1 | - | - |
GRCh38 GRCh37 |
7 | 22 | |
PRKAB1 | - | - |
GRCh38 GRCh37 |
9 | 22 |
There are 10 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) |
|
- | RCV003987000.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024