ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q23.2(chr12:101953283-102683945)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
CHPT1 | - | - |
GRCh38 GRCh37 |
18 | 39 | |
DRAM1 | - | - |
GRCh38 GRCh37 |
13 | 24 | |
GNPTAB | - | - |
GRCh38 GRCh37 |
1560 | 1581 | |
MYBPC1 | - | - |
GRCh38 GRCh37 |
325 | 375 | |
NUP37 | - | - |
GRCh38 GRCh37 |
28 | 41 | |
PARPBP | - | - |
GRCh38 GRCh37 |
39 | 58 | |
PMCH | - | - |
GRCh38 GRCh37 |
3 | 21 | |
SYCP3 | - | - |
GRCh38 GRCh37 |
35 | 54 | |
WASHC3 | - | - | - |
GRCh38 GRCh37 |
8 | 20 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 3, 2019 | RCV001006527.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022