ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.22(chr1:9378480-10317912)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 | |||
CLSTN1 | - | - |
GRCh38 GRCh37 |
69 | 111 | |
CTNNBIP1 | - | - |
GRCh38 GRCh37 |
2 | 42 | |
KIF1B | - | - |
GRCh38 GRCh37 |
2822 | 3112 | |
LINC02606 | - | - | - | GRCh38 | - | 19 |
LOC106783575 | - | - | - | GRCh38 | - | 17 |
LOC112590825 | - | - | - | GRCh38 | - | 17 |
LOC120883622 | - | - | - | GRCh38 | - | 21 |
LOC121967070 | - | - | - | GRCh38 | - | 16 |
LOC121967071 | - | - | - | GRCh38 | - | 16 |
LOC121967072 | - | - | - | GRCh38 | - | 16 |
There are 61 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 27, 2013 | RCV000141821.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024