ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677)
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 | |||
AK3 | - | - |
GRCh38 GRCh37 |
21 | 194 | |
CD274 | - | - |
GRCh38 GRCh37 |
9 | 168 | |
CDC37L1 | - | - |
GRCh38 GRCh37 |
18 | 191 | |
ERMP1 | - | - |
GRCh38 GRCh37 |
48 | 205 | |
GLDC | - | - |
GRCh38 GRCh37 |
2421 | 2620 | |
GLIS3 | - | - |
GRCh38 GRCh37 |
502 | 727 | |
IL33 | - | - |
GRCh38 GRCh37 |
22 | 174 | |
INSL4 | - | - |
GRCh38 GRCh37 |
12 | 175 | |
INSL6 | - | - |
GRCh38 GRCh37 |
26 | 556 | |
JAK2 | - | - |
GRCh38 GRCh37 |
8 | 543 |
There are 17 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 15, 2021 | RCV001352644.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023