ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)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 | |||
CDK4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
558 | 1066 | |
AGAP2 | - | - |
GRCh38 GRCh37 |
49 | 91 | |
AGAP2-AS1 | - | - | - | GRCh38 | - | 19 |
ARHGAP9 | - | - |
GRCh38 GRCh37 |
34 | 83 | |
ARHGEF25 | - | - |
GRCh38 GRCh37 |
45 | 59 | |
ATP23 | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 11 | |
AVIL | - | - |
GRCh38 GRCh37 |
85 | 127 | |
B4GALNT1 | - | - |
GRCh38 GRCh37 |
310 | 324 | |
CTDSP2 | - | - |
GRCh38 GRCh37 |
12 | 22 | |
CYP27B1 | - | - |
GRCh38 GRCh37 |
447 | 461 |
There are 154 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052814.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024