ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.2(chr19:41304025-41928997)x3
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 | |||
AXL | - | - |
GRCh38 GRCh37 |
206 | 213 | |
B9D2 | - | - |
GRCh38 GRCh37 |
69 | 79 | |
BCKDHA | - | - |
GRCh38 GRCh37 |
738 | 748 | |
CCDC97 | - | - | - |
GRCh38 GRCh37 |
32 | 39 |
CYP2A13 | - | - |
GRCh38 GRCh37 |
50 | 59 | |
CYP2A6 | - | - |
GRCh38 GRCh37 |
31 | 48 | |
CYP2A7 | - | - |
GRCh38 GRCh37 |
53 | 67 | |
CYP2B6 | - | - |
GRCh38 GRCh37 |
61 | 72 | |
CYP2F1 | - | - |
GRCh38 GRCh37 |
46 | 54 | |
CYP2S1 | - | - |
GRCh38 GRCh37 |
39 | 46 |
There are 5 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) |
|
Mar 18, 2019 | RCV001007048.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022