ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1
Germline
Classification
(1)
Likely 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 | |||
GDF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
254 | 370 | |
AGAP9 | - | - | - |
GRCh38 GRCh37 |
- | 110 |
ANTXRL | - | - | - | GRCh38 | - | 54 |
ANXA8 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 114 | |
ANXA8L1 | - | - | - |
GRCh38 GRCh37 |
10 | 119 |
ARHGAP22 | - | - |
GRCh38 GRCh37 |
69 | 156 | |
ARHGAP22-IT1 | - | - | - | GRCh38 | - | 21 |
C10orf53 | - | - | - |
GRCh38 GRCh37 |
2 | 87 |
C10orf71 | - | - | - |
GRCh38 GRCh37 |
22 | 108 |
C10orf71-AS1 | - | - | - | GRCh38 | - | 22 |
There are 104 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 24, 2012 | RCV000139346.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024