ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.3(chr17:525-1450120)x1
Germline
Classification
(1)
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 | |||
ABR | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
54 | 183 | |
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 | |
DOC2B | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 79 | |
GEMIN4 | - | - |
GRCh38 GRCh37 |
183 | 291 | |
GLOD4 | - | - | - |
GRCh38 GRCh37 |
21 | 132 |
INPP5K | - | - |
GRCh38 GRCh37 |
100 | 210 | |
LIAT1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 115 |
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 5, 2019 | RCV001259323.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023