ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p16.1(chr2:55588867-56935857)
Germline
Classification
(1)
Uncertain significance
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 | |||
CCDC85A | - | - | - |
GRCh38 GRCh37 |
36 | 60 |
CCDC88A | - | - |
GRCh38 GRCh37 |
966 | 988 | |
CFAP36 | - | - | - |
GRCh38 GRCh37 |
17 | 32 |
EFEMP1 | - | - |
GRCh38 GRCh37 |
363 | 380 | |
MIR216A | - | - |
GRCh38 GRCh37 |
- | 15 | |
MIR217 | - | - |
GRCh38 GRCh37 |
- | 15 | |
PNPT1 | - | - |
GRCh38 GRCh37 |
805 | 861 | |
PPP4R3B | - | - |
GRCh38 GRCh37 |
36 | 52 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002052759.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022