ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q25-26(chr4:111069785-116691879)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 | |||
ANK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2586 | 3157 | |
ALPK1 | - | - |
GRCh38 GRCh37 |
619 | 637 | |
AP1AR | - | - |
GRCh38 GRCh37 |
11 | 33 | |
AP1AR-DT | - | - | - | GRCh38 | - | 8 |
ARSJ | - | - |
GRCh38 GRCh37 |
36 | 55 | |
CAMK2D | - | - |
GRCh38 GRCh37 |
19 | 36 | |
FAM241A | - | - | - |
GRCh38 GRCh37 |
1 | 19 |
LARP7 | - | - |
GRCh38 GRCh37 |
116 | 287 | |
LINC02945 | - | - | - | GRCh38 | - | 4 |
LOC105377366 | - | - | - | GRCh38 | - | 4 |
There are 77 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Jan 5, 2011 | RCV000134955.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024