ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.1(chr4:7336953-8620214)x3
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 | |||
ABLIM2 | - | - |
GRCh38 GRCh37 |
67 | 142 | |
ACOX3 | - | - |
GRCh38 GRCh37 |
100 | 183 | |
AFAP1 | - | - |
GRCh38 GRCh37 |
48 | 156 | |
CPZ | - | - |
GRCh38 GRCh37 |
162 | 246 | |
GPR78 | - | - |
GRCh38 GRCh37 |
52 | 134 | |
HTRA3 | - | - |
GRCh38 GRCh37 |
35 | 112 | |
MIR95 | - | - |
GRCh38 GRCh37 |
- | 75 | |
PSAPL1 | - | - | - |
GRCh38 GRCh37 |
- | 146 |
SH3TC1 | - | - | - |
GRCh38 GRCh37 |
185 | 264 |
SORCS2 | - | - |
GRCh38 GRCh37 |
120 | 273 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 19, 2018 | RCV000846952.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022