ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p12.2(chr16:21751992-22546976)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 |
24 | 152 | |
EEF2K | - | - |
GRCh38 GRCh38 GRCh37 |
62 | 187 | |
MOSMO | - | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 127 |
NPIPB4 | - | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 96 |
NPIPB5 | - | - | - |
GRCh38 GRCh38 GRCh37 |
65 | 112 |
OTOA | - | - |
GRCh38 GRCh38 GRCh37 |
660 | 778 | |
PDZD9 | - | - | - |
GRCh38 GRCh38 GRCh37 |
10 | 234 |
POLR3E | - | - |
GRCh38 GRCh38 GRCh37 |
44 | 168 | |
SDR42E2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 126 |
UQCRC2 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 250 |
There is 1 more gene 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 13, 2021 | RCV001801192.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024