ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3
Germline
Classification
(1)
Likely pathogenic
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 | |||
AADACL3 | - | - | - |
GRCh38 GRCh37 |
18 | 65 |
AADACL4 | - | - | - |
GRCh38 GRCh37 |
37 | 85 |
CFAP107 | - | - | - |
GRCh38 GRCh37 |
3 | 47 |
HNRNPCL1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 60 |
HNRNPCL2 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
15 | 48 |
HNRNPCL3 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 22 |
HNRNPCL4 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 17 |
KAZN | - | - |
GRCh38 GRCh37 |
27 | 70 | |
LINC01784 | - | - | - |
GRCh38 GRCh38 |
- | 23 |
LOC126805620 | - | - | - | GRCh38 | - | 22 |
There are 41 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
|
Likely pathogenic (1) |
|
Mar 9, 2012 | RCV000138029.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024