ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1
Germline
Classification
(1)
Likely 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 | |||
ABCC5 | - | - |
GRCh38 GRCh37 |
64 | 106 | |
ABCC5-AS1 | - | - | - | GRCh38 | - | 19 |
ABCF3 | - | - |
GRCh38 GRCh37 |
37 | 83 | |
ALG3 | - | - |
GRCh38 GRCh37 |
202 | 251 | |
AP2M1 | - | - |
GRCh38 GRCh37 |
209 | 269 | |
CAMK2N2 | - | - |
GRCh38 GRCh37 |
- | 47 | |
CHRD | - | - |
GRCh38 GRCh37 |
85 | 128 | |
CLCN2 | - | - |
GRCh38 GRCh37 |
453 | 503 | |
DVL3 | - | - |
GRCh38 GRCh37 |
322 | 365 | |
ECE2 | - | - |
GRCh38 GRCh37 |
- | 124 |
There are 77 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
|
Likely pathogenic (1) |
|
Sep 27, 2013 | RCV000143297.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024