ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
SLC2A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1050 | 1091 | |
HIVEP3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
95 | 109 | |
ARTN | - | - |
GRCh38 GRCh37 |
15 | 37 | |
ATP6V0B | - | - |
GRCh38 GRCh37 |
6 | 23 | |
B4GALT2 | - | - |
GRCh38 GRCh37 |
29 | 46 | |
C1orf210 | - | - |
GRCh38 GRCh37 |
1 | 15 | |
C1orf50 | - | - | - |
GRCh38 GRCh37 |
1 | 17 |
CCDC24 | - | - | - |
GRCh38 GRCh37 |
22 | 39 |
CCDC30 | - | - | - |
GRCh38 GRCh37 |
43 | 271 |
CDC20 | - | - |
GRCh38 GRCh37 |
46 | 60 |
There are 245 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050706.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024