ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q12(chr17:39036037-39694679)x3
Germline
Classification
(1)
Likely benign
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 | |||
ARL5C | - | - | - |
GRCh38 GRCh37 |
6 | 15 |
CACNB1 | - | - |
GRCh38 GRCh37 |
30 | 41 | |
CDK12 | - | - |
GRCh38 GRCh37 |
99 | 134 | |
ERBB2 | - | - |
GRCh38 GRCh37 |
678 | 692 | |
FBXL20 | - | - |
GRCh38 GRCh37 |
11 | 25 | |
LOC110120913 | - | - | - | GRCh38 | - | 4 |
LOC110121446 | - | - | - | GRCh38 | - | 6 |
LOC121587590 | - | - | - | GRCh38 | - | 4 |
LOC125177467 | - | - | - | GRCh38 | - | 5 |
LOC126862552 | - | - | - | GRCh38 | - | 3 |
There are 42 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
|
Likely benign (1) |
|
Apr 4, 2013 | RCV000140753.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024