ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3
Germline
Classification
(1)
Likely 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 | |||
PAX5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
152 | 255 | |
ACO1 | - | - |
GRCh38 GRCh37 |
55 | 121 | |
ALDH1B1 | - | - |
GRCh38 GRCh37 |
62 | 131 | |
ANKRD18A | - | - |
GRCh38 GRCh37 |
65 | 130 | |
ANKRD18B | - | - |
GRCh38 GRCh37 |
1 | 71 | |
APTX | - | - |
GRCh38 GRCh37 |
285 | 353 | |
AQP3 | - | - |
GRCh38 GRCh37 |
9 | 81 | |
AQP7 | - | - |
GRCh38 GRCh37 |
5 | 80 | |
ARHGEF39 | - | - | - |
GRCh38 GRCh37 |
24 | 115 |
ARID3C | - | - | - |
GRCh38 GRCh37 |
24 | 99 |
There are 427 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
|
Likely pathogenic (1) |
|
Mar 18, 2014 | RCV000142317.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024