ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.33(chr1:917483-1072906)x3
Germline
Classification
(1)
Benign
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 | |||
AGRN | - | - |
GRCh38 GRCh37 |
2079 | 2353 | |
HES4 | - | - |
GRCh38 GRCh37 |
9 | 167 | |
ISG15 | - | - |
GRCh38 GRCh37 |
136 | 278 | |
KLHL17 | - | - |
GRCh38 GRCh37 |
74 | 212 | |
LINC02593 | - | - | - | GRCh38 | - | 68 |
LOC100288175 | - | - | - | GRCh38 | - | 74 |
LOC105378948 | - | - | - | GRCh38 | - | 74 |
LOC106783496 | - | - | - | GRCh38 | - | 74 |
LOC107985728 | - | - | - | GRCh38 | - | 68 |
LOC126805576 | - | - | - | GRCh38 | - | 128 |
There are 27 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
|
Benign (1) |
|
Apr 30, 2011 | RCV000140048.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023