ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)
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 | |||
GNAS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
750 | 864 | |
KCNQ2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2097 | 2217 | |
EEF1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
491 | 646 | |
ADRM1 | - | - |
GRCh38 GRCh37 |
21 | 47 | |
ANKRD60 | - | - | - |
GRCh38 GRCh37 |
- | 17 |
APCDD1L | - | - | - |
GRCh38 GRCh37 |
45 | 64 |
ARFGAP1 | - | - |
GRCh38 GRCh37 |
37 | 107 | |
ATP5F1E | - | - |
GRCh38 GRCh37 |
- | 54 | |
AURKA | - | - |
GRCh38 GRCh37 |
8 | 31 | |
BHLHE23 | - | - |
GRCh38 GRCh37 |
6 | 56 |
There are 78 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 1, 2018 | RCV000767669.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023