ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)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 | |||
ASXL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1015 | 1037 | |
ABHD12 | - | - |
GRCh38 GRCh37 |
379 | 569 | |
ACSS1 | - | - |
GRCh38 GRCh37 |
42 | 64 | |
APMAP | - | - |
GRCh38 GRCh37 |
35 | 56 | |
BANF2 | - | - | - |
GRCh38 GRCh37 |
2 | 25 |
BCL2L1 | - | - |
GRCh38 GRCh37 |
6 | 35 | |
BPIFB2 | - | - |
GRCh38 GRCh37 |
29 | 48 | |
C20orf203 | - | - | - |
GRCh38 GRCh37 |
3 | 20 |
CCM2L | - | - | - |
GRCh38 GRCh37 |
36 | 56 |
CD93 | - | - |
GRCh38 GRCh37 |
61 | 83 |
There are 81 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240436.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024