ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3
Germline
Classification
(1)
Likely 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 | |||
ASXL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
969 | 990 | |
GDF5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
186 | 406 | |
AAR2 | - | - |
GRCh38 GRCh37 |
18 | 27 | |
ACSS2 | - | - |
GRCh38 GRCh37 |
33 | 69 | |
ACTL10 | - | - | - |
GRCh38 GRCh37 |
- | 30 |
AHCY | - | - |
GRCh38 GRCh37 |
270 | 298 | |
ASIP | - | - |
GRCh38 GRCh37 |
- | 27 | |
BCL2L1 | - | - |
GRCh38 GRCh37 |
6 | 33 | |
BPIFA1 | - | - |
GRCh38 GRCh37 |
15 | 28 | |
BPIFA2 | - | - | - |
GRCh38 GRCh37 |
14 | 28 |
There are 90 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 28, 2021 | RCV002475651.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022