ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
CFAP61 | - | - |
GRCh38 GRCh37 |
89 | 120 | |
CFAP61-AS1 | - | - | - | GRCh38 | - | 9 |
CRNKL1 | - | - |
GRCh38 GRCh37 |
30 | 61 | |
DTD1 | - | - |
GRCh38 GRCh37 |
12 | 38 | |
DTD1-AS1 | - | - | - | GRCh38 | - | 10 |
DZANK1 | - | - | - |
GRCh38 GRCh37 |
42 | 70 |
INSM1 | - | - |
GRCh38 GRCh37 |
33 | 60 | |
KAT14 | - | - |
GRCh38 GRCh37 |
7 | 41 | |
KIZ | - | - |
GRCh38 GRCh37 |
301 | 463 | |
KIZ-AS1 | - | - | - | GRCh38 | - | 87 |
There are 109 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 30, 2009 | RCV000135439.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024