ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q13.13(chr12:53583828-53922629)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 | |||
AAAS | - | - |
GRCh38 GRCh38 GRCh37 |
469 | 490 | |
AMHR2 | - | - |
GRCh38 GRCh37 |
111 | 125 | |
ATF7 | - | - |
GRCh38 GRCh37 |
- | 14 | |
ESPL1 | - | - |
GRCh38 GRCh38 GRCh37 |
117 | 129 | |
ITGB7 | - | - |
GRCh38 GRCh37 |
15 | 59 | |
MAP3K12 | - | - |
GRCh38 GRCh37 |
31 | 49 | |
MFSD5 | - | - |
GRCh38 GRCh37 |
34 | 47 | |
MYG1 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 19 | |
NPFF | - | - |
GRCh38 GRCh37 |
- | 25 | |
PCBP2 | - | - |
GRCh38 GRCh37 |
- | 14 |
There are 7 more genes 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 13, 2023 | RCV003484869.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024