ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.3(chr17:1145231-1499243)x1
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 | |
BHLHA9 | - | - |
GRCh38 GRCh37 |
60 | 187 | |
CRK | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 130 | |
INPP5K | - | - |
GRCh38 GRCh37 |
101 | 211 | |
MYO1C | - | - |
GRCh38 GRCh37 |
256 | 375 | |
SLC43A2 | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 147 | |
TRARG1 | - | - |
GRCh38 GRCh37 |
18 | 155 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 11, 2021 | RCV001795837.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023