ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3
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 | |||
GDF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
254 | 370 | |
AGAP6 | - | - | - |
GRCh38 GRCh37 |
- | 121 |
ARHGAP22 | - | - |
GRCh38 GRCh37 |
69 | 156 | |
C10orf53 | - | - | - |
GRCh38 GRCh37 |
2 | 87 |
C10orf71 | - | - | - |
GRCh38 GRCh37 |
22 | 108 |
CHAT | - | - |
GRCh38 GRCh37 |
950 | 1283 | |
DRGX | - | - |
GRCh38 GRCh37 |
1 | 87 | |
ERCC6 | - | - |
GRCh38 GRCh37 |
1520 | 1929 | |
FAM170B | - | - | - |
GRCh38 GRCh37 |
- | 112 |
FAM25C | - | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 81 |
There are 17 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 30, 2019 | RCV001537904.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023