ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3
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 | |||
GABRA1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
651 | 684 | |
GABRG2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
663 | 695 | |
TLX3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
10 | 27 | |
ADAM19 | - | - |
GRCh38 GRCh37 |
70 | 90 | |
ADRA1B | - | - |
GRCh38 GRCh37 |
31 | 50 | |
ATP10B | - | - |
GRCh38 GRCh37 |
95 | 129 | |
C1QTNF2 | - | - |
GRCh38 GRCh37 |
31 | 56 | |
C5orf52 | - | - | - |
GRCh38 GRCh37 |
1 | 19 |
C5orf58 | - | - | - |
GRCh38 GRCh37 |
1 | 28 |
CCNG1 | - | - |
GRCh38 GRCh37 |
12 | 37 |
There are 43 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 20, 2017 | RCV000845588.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023