ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3
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 | |||
GCH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
442 | 540 | |
BMP4 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
205 | 230 | |
ABHD12B | - | - | - |
GRCh38 GRCh37 |
26 | 41 |
ARF6 | - | - |
GRCh38 GRCh37 |
2 | 14 | |
ATG14 | - | - |
GRCh38 GRCh37 |
- | 45 | |
ATL1 | - | - |
GRCh38 GRCh37 |
550 | 586 | |
C14orf28 | - | - | - |
GRCh38 GRCh37 |
- | 25 |
CDKL1 | - | - |
GRCh38 GRCh37 |
13 | 25 | |
CDKN3 | - | - |
GRCh38 GRCh37 |
3 | 21 | |
CGRRF1 | - | - |
GRCh38 GRCh37 |
13 | 30 |
There are 386 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
|
Likely pathogenic (1) |
|
Nov 26, 2012 | RCV000140717.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024