ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3
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 | |||
ADNP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
654 | 669 | |
GNAS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
746 | 859 | |
KCNQ2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2095 | 2214 | |
SALL4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
343 | 355 | |
EEF1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
491 | 645 | |
ABHD16B | - | - |
GRCh38 GRCh37 |
- | 78 | |
ACOT8 | - | - |
GRCh38 GRCh37 |
18 | 26 | |
ADNP-AS1 | - | - | - | GRCh38 | - | 127 |
ADRM1 | - | - |
GRCh38 GRCh37 |
17 | 42 | |
ANKRD60 | - | - | - |
GRCh38 GRCh37 |
- | 16 |
There are 1016 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053035.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023