ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.3(chr17:1041555-1576875)x3
Germline
Classification
(1)
not provided
no classification 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 |
34 | 160 | |
PITPNA | No evidence available | No evidence available |
GRCh38 GRCh37 |
3 | 106 | |
YWHAE | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
68 | 205 | |
BHLHA9 | - | - |
GRCh38 GRCh37 |
53 | 177 | |
CRK | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 121 | |
INPP5K | - | - |
GRCh38 GRCh37 |
86 | 193 | |
MYO1C | - | - |
GRCh38 GRCh37 |
229 | 345 | |
PRPF8 | - | - |
GRCh38 GRCh38 GRCh37 |
1329 | 1420 | |
RILP | - | - |
GRCh38 GRCh38 GRCh37 |
17 | 112 | |
SCARF1 | - | - |
GRCh38 GRCh38 GRCh37 |
48 | 143 |
There are 2 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 |
---|---|---|---|---|
not provided (1) |
|
- | RCV001825202.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023