ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1
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 | |||
GCH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
446 | 544 | |
BMP4 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
206 | 231 | |
ABHD12B | - | - | - |
GRCh38 GRCh37 |
32 | 47 |
ATG14 | - | - |
GRCh38 GRCh37 |
- | 51 | |
ATL1 | - | - |
GRCh38 GRCh37 |
556 | 592 | |
CDKN3 | - | - |
GRCh38 GRCh37 |
3 | 21 | |
CGRRF1 | - | - |
GRCh38 GRCh37 |
15 | 32 | |
CNIH1 | - | - |
GRCh38 GRCh37 |
4 | 22 | |
DDHD1 | - | - |
GRCh38 GRCh37 |
450 | 482 | |
DDHD1-DT | - | - | - | GRCh38 | - | 7 |
There are 209 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051519.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023