ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3
Germline
Classification
(1)
Likely 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 |
1285 | 1387 | |
HNRNPC | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
16 | 66 | |
MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3637 | 4914 | |
SUPT16H | No evidence available | No evidence available |
GRCh38 GRCh37 |
94 | 155 | |
ABHD4 | - | - |
GRCh38 GRCh37 |
21 | 46 | |
ACIN1 | - | - |
GRCh38 GRCh37 |
77 | 110 | |
AJUBA | - | - |
GRCh38 GRCh37 |
28 | 50 | |
BCL2L2 | - | - |
GRCh38 GRCh37 |
- | 31 | |
BCL2L2-PABPN1 | - | - | - |
GRCh38 GRCh37 |
- | 103 |
C14orf119 | - | - | - |
GRCh38 GRCh37 |
- | 22 |
There are 39 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 1, 2019 | RCV000856644.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024