ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3
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 |
1246 | 1398 | |
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 | 250 | |
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
862 | 1009 | |
ACER2 | - | - |
GRCh38 GRCh37 |
19 | 115 | |
ADAMTSL1 | - | - |
GRCh38 GRCh37 |
161 | 261 | |
BNC2 | - | - |
GRCh38 GRCh37 |
123 | 285 | |
BRD10 | - | - | - |
GRCh38 GRCh37 |
155 | 288 |
C9orf72 | - | - |
GRCh38 GRCh37 |
95 | 177 | |
CAAP1 | - | - | - |
GRCh38 GRCh37 |
25 | 100 |
There are 61 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) |
|
Apr 19, 2015 | RCV000510425.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024