ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(2); Benign(1)
Uncertain significance(2); Benign(1)
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 | |||
BTBD17 | - | - | - |
GRCh38 GRCh37 |
78 | 100 |
CD300A | - | - |
GRCh38 GRCh38 GRCh37 |
22 | 44 | |
CD300C | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 40 | |
CD300E | - | - |
GRCh38 GRCh37 |
- | 33 | |
CD300H | - | - |
GRCh38 GRCh38 |
- | 10 | |
CD300LB | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 37 | |
CD300LD | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 34 | |
CD300LD-AS1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 29 |
DNAI2 | - | - |
GRCh38 GRCh37 |
805 | 827 | |
GPR142 | - | - |
GRCh38 GRCh37 |
54 | 76 |
There are 33 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
|
Conflicting interpretations of pathogenicity (3) |
|
Sep 18, 2013 | RCV000050454.12 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024