ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.3(chr17:858365-1690452)x3
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 |
48 | 174 | |
PITPNA | No evidence available | No evidence available |
GRCh38 GRCh37 |
6 | 109 | |
YWHAE | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
69 | 206 | |
BHLHA9 | - | - |
GRCh38 GRCh37 |
57 | 181 | |
CRK | - | - |
GRCh38 GRCh38 GRCh37 |
12 | 124 | |
INPP5K | - | - |
GRCh38 GRCh37 |
95 | 202 | |
MIR22 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 84 | |
MYO1C | - | - |
GRCh38 GRCh37 |
242 | 358 | |
NXN | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
202 | 325 | |
PRPF8 | - | - |
GRCh38 GRCh38 GRCh37 |
1333 | 1424 |
There are 10 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) |
|
Mar 1, 2021 | RCV001832935.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023