ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)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 | |||
ASTN2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
164 | 936 | |
ABITRAM | - | - |
GRCh38 GRCh37 |
10 | 59 | |
ACTL7A | - | - |
GRCh38 GRCh37 |
39 | 79 | |
ACTL7B | - | - |
GRCh38 GRCh37 |
35 | 74 | |
AKNA | - | - |
GRCh38 GRCh37 |
121 | 172 | |
ALAD | - | - |
GRCh38 GRCh37 |
179 | 223 | |
AMBP | - | - |
GRCh38 GRCh37 |
34 | 70 | |
ASTN2-AS1 | - | - | - | GRCh38 | - | 12 |
ATP6V1G1 | - | - |
GRCh38 GRCh37 |
7 | 46 | |
BSPRY | - | - |
GRCh38 GRCh37 |
33 | 74 |
There are 369 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Mar 4, 2013 | RCV000140794.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024