ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
CAMTA2 | - | - |
GRCh38 GRCh37 |
71 | 112 | |
CAMTA2-AS1 | - | - | - | GRCh38 | - | 26 |
ENO3 | - | - |
GRCh38 GRCh37 |
323 | 358 | |
GP1BA | - | - |
GRCh38 GRCh37 |
159 | 213 | |
INCA1 | - | - |
GRCh38 GRCh37 |
6 | 49 | |
KIF1C | - | - |
GRCh38 GRCh37 |
505 | 644 | |
KIF1C-AS1 | - | - | - | GRCh38 | - | 26 |
LOC112529915 | - | - | - | GRCh38 | - | 14 |
LOC126862471 | - | - | - | GRCh38 | - | 22 |
LOC126862472 | - | - | - | GRCh38 | - | 62 |
There are 40 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 16, 2014 | RCV000141706.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024