ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3
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 | |||
ANKRD30A | - | - |
GRCh38 GRCh37 |
90 | 104 | |
CCDC7 | - | - |
GRCh38 GRCh37 |
39 | 57 | |
CCNY | - | - |
GRCh38 GRCh37 |
16 | 34 | |
CCNY-AS1 | - | - | - | GRCh38 | - | 4 |
CREM | - | - |
GRCh38 GRCh37 |
14 | 37 | |
CUL2 | - | - |
GRCh38 GRCh37 |
33 | 56 | |
EPC1 | - | - |
GRCh38 GRCh37 |
30 | 46 | |
EPC1-AS1 | - | - | - | GRCh38 | - | 3 |
FZD8 | - | - |
GRCh38 GRCh37 |
35 | 64 | |
GJD4 | - | - |
GRCh38 GRCh37 |
37 | 55 |
There are 111 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jul 30, 2009 | RCV000135414.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024