ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)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 | |||
GRB10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
40 | 55 | |
ABCA13 | - | - |
GRCh38 GRCh37 |
300 | 329 | |
ADCY1 | - | - |
GRCh38 GRCh37 |
260 | 293 | |
C7orf57 | - | - | - |
GRCh38 GRCh37 |
4 | 24 |
CCDC201 | - | - | - | GRCh38 | - | 7 |
CCM2 | - | - |
GRCh38 GRCh37 |
292 | 344 | |
CDC14C | - | - | - | GRCh38 | 1 | 8 |
COBL | - | - |
GRCh38 GRCh37 |
86 | 102 | |
DDC | - | - |
GRCh38 GRCh37 |
454 | 570 | |
DDC-AS1 | - | - | - | GRCh38 | - | 104 |
There are 192 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) |
|
Jan 5, 2011 | RCV000134973.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023