ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1
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 | |||
ADAMTS9 | - | - |
GRCh38 GRCh37 |
246 | 321 | |
ADAMTS9-AS1 | - | - | - | GRCh38 | - | 19 |
ADAMTS9-AS2 | - | - | - | GRCh38 | 1 | 25 |
ATXN7 | - | - |
GRCh38 GRCh37 |
71 | 109 | |
C3orf49 | - | - | - | GRCh38 | - | 16 |
CADPS | - | - |
GRCh38 GRCh37 |
80 | 95 | |
CEP15 | - | - | - |
GRCh38 GRCh37 |
1 | 9 |
FEZF2 | - | - |
GRCh38 GRCh37 |
16 | 30 | |
KBTBD8 | - | - |
GRCh38 GRCh37 |
16 | 28 | |
LINC00698 | - | - | - | GRCh38 | - | 5 |
There are 97 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) |
|
Aug 12, 2011 | RCV000050774.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023