ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p13.2(chr1:113192038-113703255)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 | |||
MOV10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
55 | 77 | |
CAPZA1 | - | - |
GRCh38 GRCh37 |
20 | 42 | |
LRIG2 | - | - |
GRCh38 GRCh37 |
108 | 133 | |
PPM1J | - | - |
GRCh38 GRCh37 |
35 | 71 | |
RHOC | - | - |
GRCh38 GRCh37 |
8 | 33 | |
SLC16A1 | - | - |
GRCh38 GRCh38 GRCh37 |
270 | 321 | |
TAFA3 | - | - |
GRCh38 GRCh37 |
22 | 48 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 31, 2023 | RCV003484028.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024