ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1
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 | |||
ACOT8 | - | - |
GRCh38 GRCh37 |
23 | 31 | |
ADA | - | - |
GRCh38 GRCh37 |
521 | 673 | |
ARFGEF2 | - | - |
GRCh38 GRCh37 |
669 | 695 | |
B4GALT5 | - | - |
GRCh38 GRCh37 |
14 | 24 | |
CCN5 | - | - |
GRCh38 GRCh37 |
- | 28 | |
CD40 | - | - |
GRCh38 GRCh37 |
234 | 266 | |
CDH22 | - | - |
GRCh38 GRCh37 |
42 | 49 | |
CSE1L | - | - |
GRCh38 GRCh37 |
28 | 41 | |
CTSA | - | - |
GRCh38 GRCh37 |
520 | 555 | |
DBNDD2 | - | - |
GRCh38 GRCh37 |
- | 29 |
There are 71 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 14, 2021 | RCV001801198.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023