ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3
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 | |||
GNAS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
753 | 870 | |
KCNQ2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2118 | 2249 | |
EEF1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
493 | 654 | |
ABHD16B | - | - |
GRCh38 GRCh37 |
- | 98 | |
ADRM1 | - | - |
GRCh38 GRCh37 |
21 | 48 | |
ANKRD60 | - | - | - |
GRCh38 GRCh37 |
- | 17 |
APCDD1L | - | - | - |
GRCh38 GRCh37 |
45 | 65 |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
37 | 108 | |
ARFRP1 | - | - |
GRCh38 GRCh37 |
15 | 71 | |
ATP5F1E | - | - |
GRCh38 GRCh37 |
- | 55 |
There are 79 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) |
|
Oct 11, 2018 | RCV001007098.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023