ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)
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 | |||
ADNP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
684 | 701 | |
GNAS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
932 | 1088 | |
KCNQ2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2143 | 2274 | |
SALL4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
375 | 388 | |
EEF1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
503 | 664 | |
ABHD16B | - | - |
GRCh38 GRCh37 |
- | 107 | |
ADNP-AS1 | - | - | - | GRCh38 | - | 129 |
ADRM1 | - | - |
GRCh38 GRCh37 |
23 | 50 | |
ANKRD60 | - | - | - |
GRCh38 GRCh37 |
- | 17 |
APCDD1L | - | - | - |
GRCh38 GRCh37 |
52 | 72 |
There are 627 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
20q13.13qter duplication
|
Pathogenic (1) |
|
Nov 20, 2022 | RCV004555205.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024