ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q33(chr7:133230189-137972605)x1
Germline
Classification
(1)
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 | |||
AGBL3 | - | - |
GRCh38 GRCh37 |
47 | 96 | |
AKR1B1 | - | - |
GRCh38 GRCh37 |
14 | 53 | |
AKR1B10 | - | - |
GRCh38 GRCh37 |
19 | 53 | |
AKR1B15 | - | - |
GRCh38 GRCh37 |
27 | 61 | |
AKR1D1 | - | - |
GRCh38 GRCh37 |
206 | 253 | |
BPGM | - | - |
GRCh38 GRCh37 |
29 | 63 | |
CALD1 | - | - |
GRCh38 GRCh37 |
48 | 84 | |
CHRM2 | - | - |
GRCh38 GRCh37 |
12 | 231 | |
CNOT4 | - | - |
GRCh38 GRCh37 |
25 | 61 | |
CREB3L2 | - | - |
GRCh38 GRCh37 |
33 | 83 |
There are 16 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 16, 2018 | RCV000682906.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022