ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q21.2-22.1(chr2:133457177-138188195)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 | |||
ACMSD | - | - |
GRCh38 GRCh37 |
18 | 47 | |
CCNT2 | - | - |
GRCh38 GRCh37 |
32 | 48 | |
CXCR4 | - | - |
GRCh38 GRCh37 |
167 | 187 | |
DARS1 | - | - |
GRCh38 GRCh37 |
180 | 210 | |
LCT | - | - |
GRCh38 GRCh37 |
682 | 793 | |
MAP3K19 | - | - | - |
GRCh38 GRCh37 |
63 | 78 |
MCM6 | - | - |
GRCh38 GRCh37 |
71 | 89 | |
MGAT5 | - | - |
GRCh38 GRCh37 |
22 | 39 | |
MIR128-1 | - | - |
GRCh38 GRCh37 |
- | 14 | |
NCKAP5 | - | - |
GRCh38 GRCh37 |
180 | 202 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 6, 2018 | RCV000846930.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022