ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)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 | |||
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 | |
ARSJ | - | - |
GRCh38 GRCh37 |
36 | 55 | |
BBS12 | - | - |
GRCh38 GRCh37 |
726 | 752 | |
BBS7 | - | - |
GRCh38 GRCh37 |
672 | 712 | |
BLTP1 | - | - |
GRCh38 GRCh37 |
485 | 509 | |
C4orf3 | - | - | - |
GRCh38 GRCh37 |
- | 28 |
There are 40 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 15, 2020 | RCV001795851.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023