ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)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 | |||
ABHD18 | - | - | - |
GRCh38 GRCh37 |
16 | 61 |
ADAD1 | - | - |
GRCh38 GRCh37 |
19 | 42 | |
AFG2A | - | - |
GRCh38 GRCh37 |
760 | 787 | |
ANKRD50 | - | - |
GRCh38 GRCh37 |
62 | 89 | |
ANXA5 | - | - |
GRCh38 GRCh37 |
25 | 57 | |
BBS12 | - | - |
GRCh38 GRCh37 |
726 | 752 | |
BBS7 | - | - |
GRCh38 GRCh37 |
672 | 712 | |
BBS7-DT | - | - | - | GRCh38 | - | 7 |
BLTP1 | - | - |
GRCh38 GRCh37 |
485 | 509 | |
C4orf3 | - | - |
GRCh38 GRCh37 |
- | 28 |
There are 246 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) |
|
Jan 28, 2013 | RCV000143207.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024