ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)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 |
763 | 881 | |
KCNQ2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2132 | 2263 | |
EEF1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
497 | 658 | |
ABHD16B | - | - |
GRCh38 GRCh37 |
- | 107 | |
ADRM1 | - | - |
GRCh38 GRCh37 |
23 | 50 | |
ANKRD60 | - | - | - |
GRCh38 GRCh37 |
- | 17 |
APCDD1L | - | - | - |
GRCh38 GRCh37 |
52 | 72 |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
38 | 109 | |
ARFRP1 | - | - |
GRCh38 GRCh37 |
17 | 73 | |
ATP5F1E | - | - |
GRCh38 GRCh37 |
- | 55 |
There are 108 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) |
|
Aug 13, 2015 | RCV000511980.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024