ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1
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 | |||
ADNP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
689 | 706 | |
B4GALT5 | - | - |
GRCh38 GRCh37 |
17 | 27 | |
BCAS4 | - | - |
GRCh38 GRCh37 |
14 | 39 | |
CEBPB | - | - |
GRCh38 GRCh37 |
- | 33 | |
CSE1L | - | - |
GRCh38 GRCh37 |
32 | 45 | |
DDX27 | - | - |
GRCh38 GRCh37 |
43 | 58 | |
DPM1 | - | - |
GRCh38 GRCh37 |
70 | 278 | |
KCNB1 | - | - |
GRCh38 GRCh37 |
728 | 743 | |
KCNG1 | - | - |
GRCh38 GRCh37 |
21 | 35 | |
MOCS3 | - | - |
GRCh38 GRCh37 |
244 | 260 |
There are 14 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Mar 25, 2014 | RCV000167570.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023