ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)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 |
3108 | 4816 | |
CPA4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
23 | 50 | |
KLF14 | No evidence available | No evidence available |
GRCh38 GRCh37 |
21 | 54 | |
MEST | No evidence available | No evidence available |
GRCh38 GRCh37 |
11 | 42 | |
AHCYL2 | - | - |
GRCh38 GRCh37 |
13 | 48 | |
ARF5 | - | - |
GRCh38 GRCh37 |
4 | 32 | |
ATP6V1F | - | - |
GRCh38 GRCh37 |
4 | 35 | |
CALU | - | - |
GRCh38 GRCh37 |
11 | 72 | |
CCDC136 | - | - |
GRCh38 GRCh37 |
59 | 88 | |
CEP41 | - | - |
GRCh38 GRCh37 |
426 | 456 |
There are 334 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) |
|
Jan 14, 2011 | RCV000142552.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023