ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)
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 |
977 | 999 | |
ABHD12 | - | - |
GRCh38 GRCh37 |
377 | 563 | |
ACSS1 | - | - |
GRCh38 GRCh37 |
34 | 56 | |
APMAP | - | - |
GRCh38 GRCh37 |
30 | 51 | |
BCL2L1 | - | - |
GRCh38 GRCh37 |
6 | 34 | |
BPIFA2 | - | - | - |
GRCh38 GRCh37 |
14 | 30 |
BPIFA3 | - | - | - |
GRCh38 GRCh37 |
13 | 38 |
BPIFB2 | - | - |
GRCh38 GRCh37 |
27 | 46 | |
BPIFB3 | - | - |
GRCh38 GRCh37 |
27 | 44 | |
BPIFB4 | - | - |
GRCh38 GRCh37 |
36 | 52 |
There are 42 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) |
|
Mar 1, 2022 | RCV002052707.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022