ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q22.31-22.32(chr9:93574616-95115422)x4
Germline
Classification
(1)
Uncertain significance
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 | |||
PHF2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
95 | 130 | |
AOPEP | - | - |
GRCh38 GRCh37 |
24 | 1345 | |
BARX1 | - | - |
GRCh38 GRCh37 |
13 | 47 | |
BARX1-DT | - | - | - | GRCh38 | - | 15 |
FANCC | - | - |
GRCh38 GRCh37 |
632 | 1957 | |
FBP1 | - | - |
GRCh38 GRCh37 |
313 | 352 | |
FBP2 | - | - |
GRCh38 GRCh37 |
11 | 62 | |
LINC02603 | - | - | - | GRCh38 | - | 15 |
LOC100132077 | - | - | - | GRCh38 | - | 15 |
LOC101928014 | - | - | - | GRCh38 | - | 15 |
There are 68 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 3, 2012 | RCV000138068.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024