ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p12.2(chr16:21931248-22431357)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 | |||
CDR2 | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 154 | |
EEF2K | - | - |
GRCh38 GRCh38 GRCh37 |
67 | 192 | |
MOSMO | - | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 127 |
PDZD9 | - | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 238 |
POLR3E | - | - |
GRCh38 GRCh38 GRCh37 |
50 | 174 | |
SDR42E2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 126 |
UQCRC2 | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 254 | |
VWA3A | - | - | - |
GRCh38 GRCh38 GRCh37 |
80 | 205 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 17, 2022 | RCV002474590.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023