ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4p15.32-15.2(chr4:17041381-22524915)x1
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 | |||
ADGRA3 | - | - |
GRCh38 GRCh37 |
930 | 967 | |
CLRN2 | - | - |
GRCh38 GRCh37 |
21 | 71 | |
DCAF16 | - | - |
GRCh38 GRCh37 |
15 | 65 | |
FAM184B | - | - |
GRCh38 GRCh37 |
63 | 126 | |
KCNIP4 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 55 | |
KCNIP4-IT1 | - | - | - | GRCh38 | - | 12 |
LAP3 | - | - |
GRCh38 GRCh37 |
10 | 76 | |
LCORL | - | - |
GRCh38 GRCh37 |
19 | 73 | |
LINC02493 | - | - | - | GRCh38 | - | 21 |
LOC100505912 | - | - | - | GRCh38 | - | 12 |
There are 52 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 12, 2011 | RCV000139200.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024