ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.23(chr7:76322093-76473764)x1
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 | |||
DTX2 | - | - |
GRCh38 GRCh38 GRCh37 |
64 | 92 | |
FPASL | - | - | - | GRCh38 | - | 14 |
LOC113748414 | - | - | - | GRCh38 | - | 14 |
LOC123956171 | - | - | - | GRCh38 | - | 14 |
LOC129998698 | - | - | - | GRCh38 | - | 23 |
LOC129998699 | - | - | - | GRCh38 | - | 14 |
LOC129998700 | - | - | - | GRCh38 | - | 16 |
SSC4D | - | - |
GRCh38 GRCh37 |
10 | 63 | |
YWHAG | - | - |
GRCh38 GRCh37 |
181 | 220 | |
ZP3 | - | - |
GRCh38 GRCh37 |
64 | 110 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign (1) |
|
Oct 1, 2010 | RCV000141576.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024