ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4
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 | |||
HNRNPK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
156 | 267 | |
ABHD17B | - | - |
GRCh38 GRCh37 |
8 | 52 | |
AGTPBP1 | - | - |
GRCh38 GRCh37 |
92 | 134 | |
ALDH1A1 | - | - |
GRCh38 GRCh37 |
28 | 69 | |
ANXA1 | - | - |
GRCh38 GRCh37 |
39 | 80 | |
APBA1 | - | - |
GRCh38 GRCh38 GRCh37 |
45 | 93 | |
BANCR | - | - |
GRCh38 GRCh37 |
- | 54 | |
C9orf153 | - | - | - |
GRCh38 GRCh37 |
- | 29 |
C9orf40 | - | - | - |
GRCh38 GRCh37 |
- | 41 |
C9orf57 | - | - | - |
GRCh38 GRCh37 |
1 | 43 |
There are 66 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Feb 24, 2015 | RCV000512280.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024