ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q31.1(chr7:109594999-113885203)x3
Germline
Classification
(1)
Likely 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 | |
BMT2 | - | - |
GRCh38 GRCh37 |
1 | 29 | |
DOCK4 | - | - |
GRCh38 GRCh37 |
113 | 178 | |
GPR85 | - | - |
GRCh38 GRCh37 |
24 | 50 | |
IFRD1 | - | - |
GRCh38 GRCh37 |
44 | 77 | |
LRRN3 | - | - |
GRCh38 GRCh37 |
- | 67 | |
LSMEM1 | - | - | - |
GRCh38 GRCh37 |
5 | 37 |
PPP1R3A | - | - |
GRCh38 GRCh37 |
106 | 134 | |
TMEM168 | - | - | - |
GRCh38 GRCh37 |
39 | 68 |
There is 1 more gene 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 21, 2019 | RCV001005995.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022