ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)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 |
3163 | 4888 | |
CADPS2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
86 | 170 | |
AASS | - | - |
GRCh38 GRCh37 |
192 | 217 | |
AHCYL2 | - | - |
GRCh38 GRCh37 |
17 | 51 | |
ARF5 | - | - |
GRCh38 GRCh37 |
5 | 32 | |
ASB15 | - | - |
GRCh38 GRCh37 |
25 | 65 | |
ATP6V1F | - | - |
GRCh38 GRCh37 |
5 | 35 | |
CALU | - | - |
GRCh38 GRCh37 |
13 | 73 | |
CCDC136 | - | - |
GRCh38 GRCh37 |
78 | 106 | |
FEZF1 | - | - |
GRCh38 GRCh37 |
49 | 116 |
There are 38 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 10, 2017 | RCV000847911.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022