ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.13(chr1:17700973-18335637)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 | |||
ACTL8 | - | - | - |
GRCh38 GRCh37 |
20 | 44 |
IGSF21 | - | - | - |
GRCh38 GRCh37 |
37 | 64 |
IGSF21-AS1 | - | - | - | GRCh38 | - | 8 |
LINC01654 | - | - | - | GRCh38 | - | 8 |
LOC120893115 | - | - | - | GRCh38 | - | 8 |
LOC121677387 | - | - | - | GRCh38 | - | 7 |
LOC126805636 | - | - | - | GRCh38 | - | 8 |
LOC126805637 | - | - | - | GRCh38 | - | 8 |
LOC126805638 | - | - | - | GRCh38 | - | 8 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 9, 2013 | RCV000142051.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024