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 |
3193 | 4942 | |
CADPS2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
95 | 185 | |
AASS | - | - |
GRCh38 GRCh37 |
200 | 225 | |
ARF5 | - | - |
GRCh38 GRCh37 |
5 | 32 | |
ASB15 | - | - |
GRCh38 GRCh37 |
29 | 69 | |
ASB15-AS1 | - | - | - | GRCh38 | - | 23 |
ATP6V1F | - | - |
GRCh38 GRCh37 |
7 | 40 | |
CALU | - | - |
GRCh38 GRCh37 |
14 | 76 | |
CCDC136 | - | - |
GRCh38 GRCh37 |
88 | 117 | |
FEZF1 | - | - |
GRCh38 GRCh37 |
52 | 121 |
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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Dec 13, 2010 | RCV000142521.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024