ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q25.1(chr17:73843095-74670538)x3
Germline
Classification
(1)
Benign
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 | |||
BTBD17 | - | - | - |
GRCh38 GRCh37 |
54 | 76 |
CD300A | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 40 | |
CD300C | - | - |
GRCh38 GRCh38 GRCh37 |
16 | 38 | |
CD300E | - | - |
GRCh38 GRCh37 |
- | 33 | |
CD300H | - | - |
GRCh38 GRCh38 |
- | 10 | |
CD300LB | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 37 | |
CD300LD | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 33 | |
CD300LD-AS1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 28 |
DNAI2 | - | - |
GRCh38 GRCh37 |
797 | 819 | |
GPR142 | - | - |
GRCh38 GRCh37 |
44 | 66 |
There are 34 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 |
---|---|---|---|---|
Benign (1) |
|
Aug 12, 2011 | RCV000053594.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023