ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)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 | |||
CA6 | - | - |
GRCh38 GRCh37 |
21 | 65 | |
CLSTN1 | - | - |
GRCh38 GRCh37 |
69 | 111 | |
CTNNBIP1 | - | - |
GRCh38 GRCh37 |
2 | 42 | |
ENO1 | - | - |
GRCh38 GRCh37 |
21 | 66 | |
ENO1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 45 |
GPR157 | - | - | - |
GRCh38 GRCh37 |
28 | 72 |
H6PD | - | - |
GRCh38 GRCh37 |
208 | 253 | |
LINC02606 | - | - | - | GRCh38 | - | 19 |
LNCTAM34A | - | - | - | GRCh38 | - | 18 |
LOC106783575 | - | - | - | GRCh38 | - | 17 |
There are 99 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) |
|
Dec 22, 2010 | RCV000137134.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024