ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
3196 | 4950 | |
CPA4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
32 | 58 | |
KLF14 | No evidence available | No evidence available |
GRCh38 GRCh37 |
31 | 63 | |
MEST | No evidence available | No evidence available |
GRCh38 GRCh37 |
15 | 45 | |
AHCYL2 | - | - |
GRCh38 GRCh37 |
21 | 58 | |
ATP6V1F | - | - |
GRCh38 GRCh37 |
7 | 40 | |
CALU | - | - |
GRCh38 GRCh37 |
14 | 76 | |
CCDC136 | - | - |
GRCh38 GRCh37 |
88 | 117 | |
CEP41 | - | - |
GRCh38 GRCh37 |
433 | 462 | |
CHCHD3 | - | - |
GRCh38 GRCh37 |
14 | 52 |
There are 225 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) |
|
Aug 12, 2011 | RCV000051072.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024