ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q22.1(chr7:101130561-101255628)x3
Germline
Classification
(1)
Benign
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 | |||
AP1S1 | - | - |
GRCh38 GRCh37 |
56 | 162 | |
CLDN15 | - | - |
GRCh38 GRCh37 |
13 | 37 | |
FIS1 | - | - |
GRCh38 GRCh37 |
12 | 37 | |
LOC113687177 | - | - | - | GRCh38 | - | 16 |
LOC120807605 | - | - | - | GRCh38 | - | 7 |
LOC123956191 | - | - | - | GRCh38 | - | 7 |
LOC126860125 | - | - | - | GRCh38 | - | 76 |
LOC129998997 | - | - | - | GRCh38 | - | 7 |
LOC129998998 | - | - | - | GRCh38 | - | 7 |
LOC129998999 | - | - | - | GRCh38 | - | 9 |
There are 15 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign (1) |
|
Jan 30, 2010 | RCV000136835.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024