ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)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 | |||
GDF5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
186 | 406 | |
AAR2 | - | - |
GRCh38 GRCh37 |
18 | 27 | |
ACSS2 | - | - |
GRCh38 GRCh37 |
33 | 69 | |
ACTL10 | - | - | - |
GRCh38 GRCh37 |
- | 30 |
AHCY | - | - |
GRCh38 GRCh37 |
270 | 298 | |
ASIP | - | - |
GRCh38 GRCh37 |
- | 27 | |
C20orf144 | - | - | - |
GRCh38 GRCh37 |
- | 19 |
C20orf173 | - | - | - |
GRCh38 GRCh37 |
1 | 13 |
CBFA2T2 | - | - |
GRCh38 GRCh37 |
26 | 42 | |
CEP250 | - | - |
GRCh38 GRCh37 |
1070 | 1428 |
There are 206 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 30, 2009 | RCV000135440.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023