ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4p12-11(chr4:47383124-48851860)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 | |||
ATP10D | - | - |
GRCh38 GRCh37 |
84 | 107 | |
CNGA1 | - | - |
GRCh38 GRCh37 |
13 | 497 | |
COMMD8 | - | - |
GRCh38 GRCh37 |
7 | 35 | |
CORIN | - | - |
GRCh38 GRCh37 |
125 | 151 | |
FRYL | - | - |
GRCh38 GRCh37 |
168 | 187 | |
GABRB1 | - | - |
GRCh38 GRCh37 |
345 | 369 | |
LOC101927157 | - | - | - | GRCh38 | - | 465 |
LOC101927179 | - | - | - | GRCh38 | - | 50 |
LOC110121309 | - | - | - | GRCh38 | - | 6 |
LOC116158486 | - | - | - | GRCh38 | - | 6 |
There are 49 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Sep 21, 2012 | RCV000138576.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024