ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)
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 | |||
BANF2 | - | - | - |
GRCh38 GRCh37 |
2 | 25 |
BFSP1 | - | - |
GRCh38 GRCh37 |
183 | 204 | |
BTBD3 | - | - |
GRCh38 GRCh37 |
10 | 45 | |
DSTN | - | - |
GRCh38 GRCh37 |
6 | 27 | |
DTD1 | - | - |
GRCh38 GRCh37 |
13 | 39 | |
DZANK1 | - | - |
GRCh38 GRCh37 |
46 | 75 | |
ESF1 | - | - |
GRCh38 GRCh37 |
48 | 85 | |
FLRT3 | - | - |
GRCh38 GRCh37 |
- | 97 | |
ISM1 | - | - |
GRCh38 GRCh37 |
2 | 83 | |
KAT14 | - | - |
GRCh38 GRCh37 |
7 | 42 |
There are 21 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) |
|
Nov 1, 2018 | RCV000767743.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024