ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1
Germline
Classification
(1)
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 | |||
GS1-204I12.4 | - | - | - | GRCh38 | - | 9 |
HMCN1 | - | - |
GRCh38 GRCh37 |
2906 | 2978 | |
IVNS1ABP | - | - |
GRCh38 GRCh37 |
32 | 56 | |
LINC01350 | - | - | - | GRCh38 | - | 10 |
LINC01633 | - | - | - | GRCh38 | - | 10 |
LOC113939981 | - | - | - | GRCh38 | - | 9 |
LOC122149328 | - | - | - | GRCh38 | - | 10 |
LOC122149329 | - | - | - | GRCh38 | - | 10 |
LOC126805950 | - | - | - | GRCh38 | - | 10 |
LOC126805951 | - | - | - | GRCh38 | - | 10 |
There are 36 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
|
Pathogenic (1) |
|
Mar 30, 2010 | RCV000133938.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024