ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.13-36.12(chr1:19809419-20418333)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 | |||
CAPZB | - | - |
GRCh38 GRCh37 |
7 | 33 | |
HTR6 | - | - |
GRCh38 GRCh37 |
36 | 60 | |
MICOS10 | - | - |
GRCh38 GRCh37 |
- | 33 | |
MICOS10-NBL1 | - | - | - |
GRCh38 GRCh37 |
- | 45 |
NBL1 | - | - |
GRCh38 GRCh37 |
- | 37 | |
OTUD3 | - | - |
GRCh38 GRCh37 |
17 | 44 | |
PLA2G2A | - | - |
GRCh38 GRCh37 |
15 | 37 | |
PLA2G2E | - | - |
GRCh38 GRCh37 |
13 | 35 | |
PLA2G5 | - | - |
GRCh38 GRCh37 |
112 | 133 | |
RNF186 | - | - |
GRCh38 GRCh37 |
- | 53 |
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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000239783.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022