ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1
Germline
Classification
(1)
Pathogenic
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 | |
ATF7-NPFF | - | - | - | GRCh38 | - | 18 |
ATP5MC2 | - | - |
GRCh38 GRCh37 |
11 | 22 | |
CALCOCO1 | - | - | - |
GRCh38 GRCh37 |
44 | 57 |
CSAD | - | - |
GRCh38 GRCh37 |
38 | 49 | |
ESPL1 | - | - |
GRCh38 GRCh38 GRCh37 |
117 | 129 | |
IGFBP6 | - | - |
GRCh38 GRCh37 |
20 | 36 | |
ITGB7 | - | - |
GRCh38 GRCh37 |
15 | 59 |
There are 66 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052811.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024