ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)
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 |
1258 | 1410 | |
ELAVL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
21 | 96 | |
MTAP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
164 | 251 | |
PAX5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
154 | 259 | |
ACER2 | - | - |
GRCh38 GRCh37 |
23 | 119 | |
ACO1 | - | - |
GRCh38 GRCh37 |
57 | 123 | |
ADAMTSL1 | - | - |
GRCh38 GRCh37 |
180 | 283 | |
ALDH1B1 | - | - |
GRCh38 GRCh37 |
64 | 134 | |
ANKRD18A | - | - |
GRCh38 GRCh37 |
71 | 137 | |
ANKRD18B | - | - |
GRCh38 GRCh37 |
1 | 73 |
There are 682 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Apr 2, 2013 | RCV000140448.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024