ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)
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 |
3204 | 4962 | |
UBN2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
95 | 154 | |
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 | |
AGBL3 | - | - |
GRCh38 GRCh37 |
47 | 96 | |
AHCYL2 | - | - |
GRCh38 GRCh37 |
21 | 58 | |
AKR1B1 | - | - |
GRCh38 GRCh37 |
14 | 53 | |
AKR1B10 | - | - |
GRCh38 GRCh37 |
19 | 53 | |
AKR1B15 | - | - |
GRCh38 GRCh37 |
27 | 61 |
There are 80 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) |
|
Mar 1, 2022 | RCV002053727.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022