ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)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 | 43 | |
AFG2A | - | - |
GRCh38 GRCh37 |
760 | 790 | |
ANKRD50 | - | - |
GRCh38 GRCh37 |
62 | 89 | |
ANXA5 | - | - |
GRCh38 GRCh37 |
25 | 58 | |
BBS12 | - | - |
GRCh38 GRCh37 |
736 | 763 | |
BBS7 | - | - |
GRCh38 GRCh37 |
689 | 731 | |
BLTP1 | - | - |
GRCh38 GRCh37 |
485 | 510 | |
C4orf3 | - | - | - |
GRCh38 GRCh37 |
- | 28 |
CCNA2 | - | - |
GRCh38 GRCh37 |
15 | 58 |
There are 32 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) |
|
Nov 9, 2017 | RCV000682448.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023