ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)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 | |||
FLNC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3113 | 4821 | |
CADPS2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 142 | |
AASS | - | - |
GRCh38 GRCh37 |
180 | 205 | |
ARF5 | - | - |
GRCh38 GRCh37 |
4 | 31 | |
ASB15 | - | - |
GRCh38 GRCh37 |
12 | 46 | |
ASB15-AS1 | - | - | - | GRCh38 | - | 17 |
ATP6V1F | - | - |
GRCh38 GRCh37 |
4 | 34 | |
CALU | - | - |
GRCh38 GRCh37 |
11 | 71 | |
CCDC136 | - | - |
GRCh38 GRCh37 |
59 | 87 | |
FEZF1 | - | - |
GRCh38 GRCh37 |
48 | 111 |
There are 155 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 13, 2010 | RCV000142521.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023