ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)
Germline
Classification
(1)
Likely pathogenic
criteria provided, single submitter
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 | |||
ABHD11 | - | - | - |
GRCh38 GRCh37 |
21 | 179 |
ABHD11-AS1 | - | - |
GRCh38 GRCh37 |
- | 157 | |
BAZ1B | - | - |
GRCh38 GRCh37 |
84 | 247 | |
BCL7B | - | - |
GRCh38 GRCh37 |
7 | 163 | |
BUD23 | - | - |
GRCh38 GRCh37 |
7 | 163 | |
CALN1 | - | - |
GRCh38 GRCh37 |
13 | 56 | |
CLDN3 | - | - |
GRCh38 GRCh37 |
2 | 162 | |
CLDN4 | - | - |
GRCh38 GRCh37 |
9 | 169 | |
DNAJC30 | - | - |
GRCh38 GRCh37 |
14 | 178 | |
FKBP6 | - | - |
GRCh38 GRCh37 |
25 | 185 |
There are 12 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 15, 2021 | RCV001352633.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022