ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3
Germline
Classification
(1)
Likely 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 | |||
GNAS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
749 | 862 | |
KCNQ2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2095 | 2214 | |
EEF1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
491 | 645 | |
ABHD16B | - | - |
GRCh38 GRCh37 |
- | 94 | |
ADRM1 | - | - |
GRCh38 GRCh37 |
21 | 46 | |
ANKRD60 | - | - | - |
GRCh38 GRCh37 |
- | 16 |
APCDD1L | - | - | - |
GRCh38 GRCh37 |
45 | 63 |
APCDD1L-DT | - | - | - | GRCh38 | - | 6 |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
37 | 106 | |
ARFRP1 | - | - |
GRCh38 GRCh37 |
15 | 66 |
There are 545 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 9, 2013 | RCV000143584.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024