ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)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 | |||
FOXP2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
351 | 388 | |
IMMP2L | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
30 | 114 | |
MET | No evidence available | No evidence available |
GRCh38 GRCh37 |
3653 | 3702 | |
ASZ1 | - | - |
GRCh38 GRCh37 |
28 | 58 | |
BMT2 | - | - |
GRCh38 GRCh37 |
1 | 29 | |
CAPZA2 | - | - |
GRCh38 GRCh37 |
15 | 48 | |
CAV1 | - | - |
GRCh38 GRCh37 |
107 | 157 | |
CAV2 | - | - |
GRCh38 GRCh37 |
13 | 43 | |
CFTR | - | - |
GRCh38 GRCh37 |
3704 | 5025 | |
CTTNBP2 | - | - |
GRCh38 GRCh37 |
113 | 140 |
There are 26 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) |
|
Jul 28, 2017 | RCV000846765.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022