ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4
Germline
Classification
(1)
Likely 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 |
1246 | 1398 | |
DMRT1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
77 | 297 | |
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 | |
PAX5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
153 | 258 | |
DMRT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
133 | 323 | |
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
862 | 1009 | |
KANK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
799 | 1141 | |
SMARCA2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1151 | 1325 | |
ACER2 | - | - |
GRCh38 GRCh37 |
19 | 115 |
There are 193 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 |
---|---|---|---|---|
Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus
|
Likely pathogenic (1) |
|
Dec 19, 2016 | RCV000677299.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023