ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1
Germline
Classification
(1)
Uncertain significance
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 |
103 | 267 | |
CALN1 | - | - |
GRCh38 GRCh37 |
15 | 58 | |
FKBP6 | - | - |
GRCh38 GRCh37 |
28 | 189 | |
FZD9 | - | - |
GRCh38 GRCh37 |
13 | 178 | |
GALNT17 | - | - |
GRCh38 GRCh37 |
31 | 62 | |
LOC106029311 | - | - | - | GRCh38 | - | 24 |
LOC113748406 | - | - | - | GRCh38 | - | 12 |
LOC123956159 | - | - | - | GRCh38 | - | 75 |
LOC126860070 | - | - | - | GRCh38 | - | 17 |
LOC126860071 | - | - | - | GRCh38 | - | 19 |
There are 26 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 23, 2012 | RCV000143344.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024