ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3
Germline
Classification
(1)
Likely benign
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 | |||
FLNC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3113 | 4821 | |
AHCYL2 | - | - |
GRCh38 GRCh37 |
13 | 47 | |
ATP6V1F | - | - |
GRCh38 GRCh37 |
4 | 34 | |
CALU | - | - |
GRCh38 GRCh37 |
11 | 71 | |
CCDC136 | - | - |
GRCh38 GRCh37 |
59 | 87 | |
FLNC-AS1 | - | - | - | GRCh38 | - | 1661 |
GARIN1A | - | - |
GRCh38 GRCh37 |
5 | 34 | |
GARIN1B | - | - |
GRCh38 GRCh37 |
6 | 34 | |
HILPDA | - | - |
GRCh38 GRCh37 |
- | 32 | |
HILPDA-AS1 | - | - | - | GRCh38 | - | 12 |
There are 98 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 |
---|---|---|---|---|
Likely benign (1) |
|
Oct 21, 2014 | RCV000142106.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023