ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1
Germline
Classification
(1)
Likely 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 | |||
LOC112903838 | - | - | - | GRCh38 | - | 15 |
LOC123038189 | - | - | - | GRCh38 | - | 14 |
LOC123038190 | - | - | - | GRCh38 | - | 15 |
LOC126806819 | - | - | - | GRCh38 | - | 14 |
LOC126806820 | - | - | - | GRCh38 | - | 19 |
LOC129937631 | - | - | - | GRCh38 | - | 14 |
LOC129937632 | - | - | - | GRCh38 | - | 15 |
LOC129937633 | - | - | - | GRCh38 | - | 15 |
LOC129937634 | - | - | - | GRCh38 | - | 14 |
MSL2 | - | - |
GRCh38 GRCh37 |
30 | 53 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 8, 2018 | RCV000680251.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023