ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q35.1(chr5:170226622-171028731)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 | |||
C5orf58 | - | - | - |
GRCh38 GRCh37 |
2 | 30 |
GABRP | - | - |
GRCh38 GRCh37 |
30 | 51 | |
KCNIP1 | - | - |
GRCh38 GRCh37 |
7 | 51 | |
KCNIP1-AS1 | - | - | - | GRCh38 | - | 6 |
KCNIP1-OT1 | - | - | - | GRCh38 | - | 6 |
KCNMB1 | - | - |
GRCh38 GRCh37 |
- | 43 | |
LCP2 | - | - |
GRCh38 GRCh37 |
39 | 68 | |
LINC01366 | - | - | - | GRCh38 | - | 6 |
LOC100128059 | - | - | - |
GRCh38 GRCh37 |
- | 24 |
LOC121099713 | - | - | - | GRCh38 | - | 6 |
There are 14 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) |
|
Oct 10, 2011 | RCV000137321.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024