ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p24.1-22.3(chr9:8595338-15622555)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 | |||
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
860 | 1007 | |
CCDC171 | - | - | - |
GRCh38 GRCh37 |
97 | 195 |
CER1 | - | - |
GRCh38 GRCh37 |
16 | 122 | |
LURAP1L | - | - |
GRCh38 GRCh37 |
11 | 150 | |
MPDZ | - | - |
GRCh38 GRCh37 |
1650 | 1772 | |
NFIB | - | - |
GRCh38 GRCh37 |
112 | 238 | |
PSIP1 | - | - |
GRCh38 GRCh37 |
23 | 131 | |
PTPRD | - | - |
GRCh38 GRCh37 |
172 | 355 | |
SNAPC3 | - | - |
GRCh38 GRCh37 |
25 | 133 | |
TTC39B | - | - |
GRCh38 GRCh37 |
63 | 167 |
There are 2 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 9, 2022 | RCV003483054.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024