ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.3(chr17:1368601-1589181)x3
Germline
Classification
(1)
Pathogenic
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 | |||
PITPNA | No evidence available | No evidence available |
GRCh38 GRCh37 |
8 | 114 | |
YWHAE | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
69 | 209 | |
CRK | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 130 | |
INPP5K | - | - |
GRCh38 GRCh37 |
102 | 212 | |
LOC112529892 | - | - | - |
GRCh38 GRCh38 |
- | 48 |
LOC129390819 | - | - | - | GRCh38 | - | 40 |
LOC130059877 | - | - | - | GRCh38 | - | 45 |
LOC130059878 | - | - | - | GRCh38 | - | 44 |
LOC130059879 | - | - | - | GRCh38 | - | 46 |
LOC130059880 | - | - | - | GRCh38 | - | 44 |
There are 13 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050827.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024