ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ADAMTS18 | - | - |
GRCh38 GRCh37 |
1087 | 1200 | |
ADAT1 | - | - |
GRCh38 GRCh37 |
42 | 87 | |
BCAR1 | - | - |
GRCh38 GRCh38 GRCh37 |
123 | 170 | |
CFDP1 | - | - |
GRCh38 GRCh37 |
27 | 78 | |
CHST5 | - | - |
GRCh38 GRCh37 |
36 | 89 | |
CHST6 | - | - |
GRCh38 GRCh37 |
296 | 347 | |
CLEC18B | - | - |
GRCh38 GRCh37 |
31 | 75 | |
CLEC3A | - | - |
GRCh38 GRCh37 |
5 | 76 | |
CNTNAP4 | - | - |
GRCh38 GRCh37 |
50 | 93 | |
CTRB1 | - | - |
GRCh38 GRCh38 GRCh37 |
32 | 77 |
There are 21 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 9, 2021 | RCV002475774.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022