ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p15-14(chr2:63311999-67309291)x1
Germline
Classification
(1)
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 | |||
ACTR2 | - | - |
GRCh38 GRCh37 |
8 | 25 | |
AFTPH | - | - |
GRCh38 GRCh37 |
53 | 67 | |
AFTPH-DT | - | - | - | GRCh38 | - | 3 |
CEP68 | - | - |
GRCh38 GRCh37 |
83 | 98 | |
HCNR606 | - | - | - | GRCh38 | - | 7 |
HCNR617 | - | - | - | GRCh38 | - | 6 |
HHC2:065915 | - | - | - | GRCh38 | - | - |
HHC2:065944 | - | - | - | GRCh38 | - | - |
HHC2:066104 | - | - | - | GRCh38 | - | - |
HHC2:066522 | - | - | - | GRCh38 | - | - |
There are 165 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054054.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 25, 2023