ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3
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 | |||
CDKN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1235 | 1386 | |
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 | |
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
860 | 1007 | |
ACER2 | - | - |
GRCh38 GRCh37 |
19 | 115 | |
ADAMTSL1 | - | - |
GRCh38 GRCh37 |
160 | 260 | |
BNC2 | - | - |
GRCh38 GRCh37 |
122 | 284 | |
BNC2-AS1 | - | - | - | GRCh38 | - | 44 |
C9orf72 | - | - |
GRCh38 GRCh37 |
95 | 177 | |
CAAP1 | - | - | - |
GRCh38 GRCh37 |
25 | 100 |
There are 235 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37 , NCBI36 , GRCh38) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053749.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024