ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
CDK4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
552 | 1053 | |
AGAP2 | - | - |
GRCh38 GRCh37 |
44 | 86 | |
ARHGAP9 | - | - |
GRCh38 GRCh37 |
29 | 77 | |
ARHGEF25 | - | - |
GRCh38 GRCh37 |
39 | 53 | |
ATP23 | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 11 | |
AVIL | - | - |
GRCh38 GRCh37 |
75 | 116 | |
B4GALNT1 | - | - |
GRCh38 GRCh37 |
307 | 321 | |
CTDSP2 | - | - |
GRCh38 GRCh37 |
9 | 19 | |
CYP27B1 | - | - |
GRCh38 GRCh37 |
441 | 455 | |
DCTN2 | - | - |
GRCh38 GRCh37 |
10 | 27 |
There are 23 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jul 31, 2018 | RCV001006506.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023