ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)
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 | |||
CHD8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1232 | 1328 | |
MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3604 | 4861 | |
OR5AU1 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
19 | 57 |
SUPT16H | No evidence available | No evidence available |
GRCh38 GRCh37 |
74 | 130 | |
ABHD4 | - | - |
GRCh38 GRCh37 |
17 | 42 | |
ACIN1 | - | - |
GRCh38 GRCh37 |
64 | 96 | |
ADCY4 | - | - |
GRCh38 GRCh38 GRCh37 |
59 | 82 | |
AJUBA | - | - |
GRCh38 GRCh37 |
22 | 44 | |
ANG | - | - |
GRCh38 GRCh37 |
8 | 123 | |
AP1G2 | - | - |
GRCh38 GRCh37 |
2 | 81 |
There are 144 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767822.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023