ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)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 |
925 | 1080 | |
ADRM1 | - | - |
GRCh38 GRCh37 |
23 | 50 | |
ANKRD60 | - | - | - |
GRCh38 GRCh37 |
- | 17 |
APCDD1L | - | - | - |
GRCh38 GRCh37 |
52 | 72 |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
38 | 109 | |
ATP5F1E | - | - |
GRCh38 GRCh37 |
- | 55 | |
BHLHE23 | - | - |
GRCh38 GRCh37 |
7 | 58 | |
BIRC7 | - | - |
GRCh38 GRCh37 |
26 | 92 | |
BMP7 | - | - |
GRCh38 GRCh37 |
93 | 116 | |
CABLES2 | - | - |
GRCh38 GRCh37 |
37 | 78 |
There are 60 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) |
|
Nov 27, 2018 | RCV001007097.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023