ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3
Germline
Classification
(1)
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 | |||
ALG3 | - | - |
GRCh38 GRCh37 |
197 | 245 | |
CAMK2N2 | - | - |
GRCh38 GRCh37 |
- | 46 | |
CHRD | - | - |
GRCh38 GRCh37 |
69 | 111 | |
CLCN2 | - | - |
GRCh38 GRCh37 |
437 | 485 | |
ECE2 | - | - |
GRCh38 GRCh37 |
- | 113 | |
EEF1AKMT4 | - | - | - | GRCh38 | - | 35 |
EEF1AKMT4-ECE2 | - | - | - | GRCh38 | - | 91 |
EIF4G1 | - | - |
GRCh38 GRCh37 |
133 | 178 | |
EPHB3 | - | - |
GRCh38 GRCh37 |
43 | 84 | |
FAM131A | - | - | - |
GRCh38 GRCh37 |
19 | 64 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051737.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023