ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q22.31(chr15:64673133-65273595)x3
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 | |||
ANKDD1A | - | - | - |
GRCh38 GRCh37 |
44 | 63 |
OAZ2 | - | - |
GRCh38 GRCh37 |
- | 15 | |
PCLAF | - | - |
GRCh38 GRCh37 |
6 | 19 | |
PIF1 | - | - |
GRCh38 GRCh37 |
79 | 94 | |
PLEKHO2 | - | - | - |
GRCh38 GRCh37 |
46 | 61 |
RBPMS2 | - | - |
GRCh38 GRCh37 |
18 | 33 | |
SPG21 | - | - |
GRCh38 GRCh37 |
151 | 170 | |
TRIP4 | - | - |
GRCh38 GRCh37 |
230 | 263 | |
ZNF609 | - | - |
GRCh38 GRCh37 |
92 | 106 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240068.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022