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 |
882 | 1030 | |
CCDC171 | - | - | - |
GRCh38 GRCh37 |
114 | 212 |
CER1 | - | - |
GRCh38 GRCh37 |
19 | 125 | |
LURAP1L | - | - |
GRCh38 GRCh37 |
15 | 154 | |
MPDZ | - | - |
GRCh38 GRCh37 |
1672 | 1794 | |
NFIB | - | - |
GRCh38 GRCh37 |
115 | 241 | |
PSIP1 | - | - |
GRCh38 GRCh37 |
23 | 131 | |
PTPRD | - | - |
GRCh38 GRCh37 |
178 | 362 | |
SNAPC3 | - | - |
GRCh38 GRCh37 |
28 | 136 | |
TTC39B | - | - |
GRCh38 GRCh37 |
68 | 172 |
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