ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q11.2(chr14:20127290-21376436)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 | |||
OR5AU1 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
19 | 57 |
SUPT16H | No evidence available | No evidence available |
GRCh38 GRCh37 |
73 | 129 | |
ANG | - | - |
GRCh38 GRCh37 |
8 | 123 | |
APEX1 | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 47 | |
ARHGEF40 | - | - |
GRCh38 GRCh37 |
97 | 145 | |
CCNB1IP1 | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 27 | |
EDDM3A | - | - |
GRCh38 GRCh37 |
13 | 41 | |
EDDM3B | - | - |
GRCh38 GRCh37 |
7 | 35 | |
EGILA | - | - | - | GRCh38 | - | 90 |
HNRNPC | - | - |
GRCh38 GRCh37 |
12 | 59 |
There are 111 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053804.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023