ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)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 | |||
BAZ1B | - | - |
GRCh38 GRCh37 |
112 | 280 | |
BCL7B | - | - |
GRCh38 GRCh37 |
9 | 168 | |
CALN1 | - | - |
GRCh38 GRCh37 |
16 | 59 | |
FKBP6 | - | - |
GRCh38 GRCh37 |
29 | 192 | |
FZD9 | - | - |
GRCh38 GRCh37 |
13 | 181 | |
GALNT17 | - | - |
GRCh38 GRCh37 |
34 | 65 | |
LOC106029311 | - | - | - | GRCh38 | - | 25 |
LOC113748406 | - | - | - | GRCh38 | - | 12 |
LOC121175345 | - | - | - | GRCh38 | - | 68 |
LOC123956159 | - | - | - | GRCh38 | - | 78 |
There are 41 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
|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000135816.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024