ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1
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 | |||
DMRT1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
77 | 297 | |
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 | |
ADAMTSL1 | - | - |
GRCh38 GRCh37 |
161 | 261 | |
AK3 | - | - |
GRCh38 GRCh37 |
21 | 194 | |
BNC2 | - | - |
GRCh38 GRCh37 |
123 | 285 | |
BNC2-AS1 | - | - | - | GRCh38 | - | 44 |
BRD10 | - | - | - |
GRCh38 GRCh37 |
155 | 288 |
There are 284 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052860.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024