ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q12(chr4:57067953-57957651)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 | |||
AASDH | - | - |
GRCh38 GRCh37 |
70 | 93 | |
ARL9 | - | - |
GRCh38 GRCh37 |
9 | 30 | |
CRACD | - | - |
GRCh38 GRCh37 |
88 | 115 | |
HOPX | - | - |
GRCh38 GRCh37 |
14 | 35 | |
IGFBP7 | - | - |
GRCh38 GRCh37 |
13 | 49 | |
NOA1 | - | - |
GRCh38 GRCh37 |
57 | 81 | |
PAICS | - | - |
GRCh38 GRCh37 |
10 | 36 | |
POLR2B | - | - |
GRCh38 GRCh37 |
19 | 43 | |
PPAT | - | - |
GRCh38 GRCh37 |
10 | 33 | |
REST | - | - |
GRCh38 GRCh37 |
609 | 632 |
There are 3 more genes 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) |
|
Jan 30, 2019 | RCV001005548.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022