ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1
Germline
Classification
(1)
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 | |||
ADNP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
654 | 669 | |
SALL4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
343 | 355 | |
ARFGEF2 | - | - |
GRCh38 GRCh37 |
657 | 683 | |
ATP9A | - | - |
GRCh38 GRCh37 |
39 | 54 | |
B4GALT5 | - | - |
GRCh38 GRCh37 |
12 | 22 | |
BCAS4 | - | - |
GRCh38 GRCh37 |
11 | 31 | |
CEBPB | - | - |
GRCh38 GRCh37 |
- | 24 | |
CSE1L | - | - |
GRCh38 GRCh37 |
20 | 33 | |
DDX27 | - | - |
GRCh38 GRCh37 |
28 | 43 | |
DPM1 | - | - |
GRCh38 GRCh37 |
69 | 271 |
There are 20 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 12, 2013 | RCV000511555.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022