ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)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 | |
ADNP-AS1 | - | - | - | GRCh38 | - | 127 |
ATP9A | - | - |
GRCh38 GRCh37 |
39 | 54 | |
BCAS4 | - | - |
GRCh38 GRCh37 |
11 | 31 | |
DPM1 | - | - |
GRCh38 GRCh37 |
69 | 271 | |
KCNG1 | - | - |
GRCh38 GRCh37 |
14 | 27 | |
LINC01429 | - | - | - | GRCh38 | - | 5 |
LINC01524 | - | - | - | GRCh38 | 1 | 5 |
LOC112694721 | - | - | - | GRCh38 | - | 6 |
There are 55 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 21, 2011 | RCV000137265.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023