ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)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 | |||
CDKN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1235 | 1386 | |
DMRT1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
76 | 293 | |
ELAVL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
20 | 95 | |
MTAP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
163 | 249 | |
PAX5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
152 | 255 | |
DMRT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
133 | 322 | |
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
860 | 1007 | |
KANK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
797 | 1133 | |
SMARCA2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1143 | 1316 | |
ACER2 | - | - |
GRCh38 GRCh37 |
19 | 115 |
There are 205 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) |
|
Aug 30, 2017 | RCV000683175.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023