ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)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 | |||
GABRA1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
651 | 684 | |
GABRG2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
662 | 694 | |
ADAM19 | - | - |
GRCh38 GRCh37 |
53 | 73 | |
ADRA1B | - | - |
GRCh38 GRCh37 |
23 | 42 | |
ATP10B | - | - |
GRCh38 GRCh37 |
71 | 104 | |
C1QTNF2 | - | - |
GRCh38 GRCh37 |
22 | 47 | |
C5orf52 | - | - | - |
GRCh38 GRCh37 |
1 | 19 |
CCNG1 | - | - |
GRCh38 GRCh37 |
9 | 33 | |
CCNJL | - | - | - |
GRCh38 GRCh37 |
21 | 46 |
CLINT1 | - | - |
GRCh38 GRCh37 |
20 | 37 |
There are 271 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052144.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023