ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)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 | |
RALGAPB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
70 | 76 | |
L3MBTL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
60 | 66 | |
MAFB | No evidence available | No evidence available |
GRCh38 GRCh37 |
171 | 180 | |
NNAT | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 9 | |
AAR2 | - | - |
GRCh38 GRCh37 |
18 | 27 | |
ACOT8 | - | - |
GRCh38 GRCh37 |
23 | 31 | |
ACTR5 | - | - |
GRCh38 GRCh37 |
33 | 40 | |
ADA | - | - |
GRCh38 GRCh37 |
521 | 673 | |
ADIG | - | - |
GRCh38 GRCh37 |
9 | 15 |
There are 560 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) |
|
Dec 17, 2012 | RCV000140816.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024